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	NSWES979	WT	HH	HZ	NC
chr1	1244464	1244464	C	T	exonic	C1QTNF12	.	nonsynonymous SNV	C1QTNF12:NM_001014980:exon2:c.G211A:p.A71T	.	417	1103	2	0	0	2	0.000905797	.	.	.	3643798	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.196	0.258779963812	7.7e-05	.	1.705e-05	0.0001	0	0	0	1.564e-05	0	0	2.59e-05	4	154602	rs148998510	7.262e-05	7.251e-05	7.362e-05	7.161e-05	0.0005	6.123e-05	5.708e-05	0.0001	7.55e-05	0	0	0	7.559e-05	0	0.0005	8.907e-05	1.658e-05	0	3.943e-05	4.594e-05	1.286e-05	6.721e-05	0.0002	1.716e-05	1.13e-05	1.973e-05	1.125e-05	2.41e-05	0	0	0	0	0	0	5.886e-05	0	0.0002	0.061	0.37118	T	0.141	0.33442	T	1.0	0.90584	D	0.983	0.75793	D	0.000384	0.44960	D	0.087452	0.523505	0.31917	D	.	.	.	0.93	0.44065	T	-1.46	0.35792	N	0.559	0.58373	-0.4374	0.70817	T	0.232	0.59782	T	10	0.6227639	0.68072	D	0.25878	0.89421	D	0.196	0.47777	.	.	0.435808882951	0.43200	0.3705487506600801	0.36968	0.408270968002	0.41671	0.662700235844	0.61796	T	0.028147	0.20454	T	-0.129934	0.31506	T	-0.241027	0.50699	T	0.869970321655273	0.51988	D	0.70393	0.31399	T	0.06948601	0.15226	0.12135122	0.29279	0.06948601	0.15226	0.12135122	0.29278	-5.894	0.45384	T	.	.	0.202	0.42692	B	.	.	4.023069	0.59433	24.1	0.9986633664832858	0.94457	0.79105	0.39136	D	AEFDBHCI	0.349792	0.44346	N	0.434838680910671	0.63350	4.566872	0.316711539407272	0.56520	3.815583	0.999999393208918	0.74766	0.700653	0.57754	0	0.633656	0.55848	0	0.717052	0.78885	0	0.604944	0.38103	0	.	.	3.8	3.8	0.42887	0.962000	0.28877	7.414000	0.58665	0.592000	0.32167	0.282000	0.25160	1.000000	0.68203	0.015000	0.10482	0.0:1.0:0.0:0.0	11.438	0.49325	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	0.000504	0.000000	0.001362	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	809.33	34	chr1	1244464	.	C	T	809.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.653;DP=709;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.45;ReadPosRankSum=-0.854;SOR=0.653	GT:AD:DP:GQ:PL	0/1:34,31:65:99:823,0,849	18	0	1	0
chr1	1334233	1334235	CTC	-	exonic	TAS1R3	.	nonframeshift deletion	TAS1R3:NM_152228:exon6:c.2328_2330del:p.S777del	.	384	1132	6	0	0	6	0.00264317	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0013	.	0.0015	0	0.0004	0	0.0016	0.0023	0	0.0013	0.0001921	5	26028	rs531899606	0.0015	0.0015	0.0015	0.0015	0.0018	0.0014	0.0014	0.0017	0.0017	0.0003	0.0004	0.0003	0	0.0009	0.0009	0.0018	0.0008	0.0007	0.0012	0.0012	0.0013	0.0010	0.0019	0.0010	0.0010	0.0016	0.0015	0.0002	0.0154	0.0003	0.0006	0	0.0014	0	0.0018	0.0005	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002016	0.000000	0.004087	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	2700.29	42	chr1	1334232	.	TCTC	T	2700.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.34;DP=992;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.88;ReadPosRankSum=1.3;SOR=0.675	GT:AD:DP:GQ:PL	0/1:89,71:160:99:2714,0,3523	18	0	1	0
chr1	1419158	1419158	G	A	exonic	ANKRD65	.	nonsynonymous SNV	ANKRD65:NM_001145210:exon4:c.C1142T:p.A381V	.	419	1053	49	1	0	51	0.0236439	.	.	.	2805485	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.029	.	.	0.00399361	0.0098	0.0009	0	0.0020	0	0.0089	0.0152	0.0132	0.0014295	221	154602	rs185838741	0.0032	0.0030	0.0029	0.0035	0.0152	0.0031	0.0031	0.0126	0.0116	0.0004	0.0050	0.0111	8.462e-05	0.0002	0.0152	0.0026	0.0044	0.0096	0.0026	0.0026	0.0025	0.0028	0.0089	0.0024	0.0023	0.0068	0.0060	0.0006	0.0022	0.0043	0.0124	0.0004	0	0.0136	0.0030	0.0047	0.0089	1.0	0.00964	T	0.565	0.08961	T	0.001	0.07471	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	-0.37	0.68892	T	0.21	0.04776	N	0.051	0.02272	-1.0608	0.11557	T	0.073	0.29675	T	9	0.002860576	0.00046	T	.	.	.	0.029	0.06676	.	.	0.0401082797425	0.02173	0.2554336714957737	0.25457	.	.	0.436058402061	0.30039	T	0.002318	0.01710	T	-0.638598	0.00085	T	-0.683114	0.06795	T	0.000585412339857197	0.00005	T	0.272373	0.04609	T	0.01873701	0.00396	0.031370908	0.01718	0.01873701	0.00396	0.031370908	0.01717	-3.897	0.22258	T	.	.	0.085	0.10256	B	.;.	.;.	-0.576677	0.01637	0.114	0.5647402424843313	0.05560	0.01396	0.04737	N	AEFDBCI	0.032353	0.03640	N	-1.71344732906075	0.00795	0.03435849	-1.82266737138785	0.00689	0.0306899	0.999999114923721	0.74766	0.646311	0.45356	0	0.655437	0.61614	1	0.645312	0.48771	0	0.613276	0.41899	0	.	.	3.36	-6.72	0.01591	-3.435000	0.00524	-2.759000	0.03391	-0.361000	0.05505	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.1274:0.1153:0.5451:0.2123	2.814	0.05116	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	1	0	0.013648	0.012821	0.000000	0.004425	0.000000	0.062500	0.006250	0.065789	0.02632	1072.33	33	chr1	1419158	.	G	A	1072.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.085;DP=1053;ExcessHet=0;FS=0.712;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.57;ReadPosRankSum=0.029;SOR=0.722	GT:AD:DP:GQ:PL	0/1:64,48:112:99:1086,0,1543	18	0	1	0
chr1	2641471	2641471	G	A	exonic	TTC34	.	nonsynonymous SNV	TTC34:NM_001242672:exon8:c.C3137T:p.T1046M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.0389425734676	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1363859935	1.59e-05	1.642e-05	1.427e-05	1.758e-05	2.525e-05	1.041e-05	8.89e-06	1.211e-05	9.84e-06	0	0	0	0	0	0	1.854e-05	0	2.525e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000501	0.43931	U	0.146061	1	0.08975	N	2.545	0.74286	M	.	.	.	.	.	.	.	.	-1.0301	0.20422	T	0.087	0.33634	T	8	0.10485488	0.19351	T	0.038943	0.58523	D	0.050	0.13987	0.397	0.42426	0.200317383148	0.19677	0.16526052469899755	0.16446	.	.	0.50736951828	0.39855	T	0.01479	0.12528	T	-0.304885	0.08206	T	-0.558272	0.16540	T	0.19173926115036	0.19947	T	0.59614	0.22137	T	0.023785116	0.01148	0.06066849	0.11591	0.023785116	0.01148	0.06066849	0.11591	-4.786	0.34428	T	.	.	0.072	0.05188	B	.;.	.;.	1.308910	0.17120	12.97	0.99433135622983926	0.64374	0.04533	0.10166	N	AEFDBHCI	0.064125	0.12433	N	-0.815137269264646	0.12923	0.6331644	-0.980516784360225	0.10224	0.5135269	0.999996192890876	0.74766	0.62174	0.39705	0	0.550933	0.16991	0	0.491614	0.08109	1	0.562822	0.20929	0	.	.	3.54	0.125	0.14020	-0.265000	0.08671	0.415000	0.18155	-0.125000	0.13442	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.1191:0.0:0.4854:0.3955	4.108	0.09516	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	800.33	34	chr1	2641471	.	G	A	800.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.166;DP=707;ExcessHet=0;FS=0.865;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.53;ReadPosRankSum=0.219;SOR=0.834	GT:AD:DP:GQ:PL	0/1:41,35:76:99:814,0,1002	18	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	0.05263	8136.83	130	chr1	7830093	.	C	T	8136.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.2;DP=2287;ExcessHet=0.119;FS=1.773;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.71;ReadPosRankSum=1.06;SOR=0.582	GT:AD:DP:GQ:PL	0/1:152,137:289:99:3767,0,4264	17	0	2	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	.	.	.	.	.	.	.	.	0.3438	775.38	34	chr1	7933282	.	T	C	775.38	.	AC=11;AF=0.344;AN=32;BaseQRankSum=-1.376;DP=684;ExcessHet=9.6465;FS=107.214;InbreedingCoeff=-0.4822;MLEAC=12;MLEAF=0.375;MQ=60;MQRankSum=0;QD=1.79;ReadPosRankSum=0.717;SOR=9.203	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:15,6:21:36:.:.:36,0,273:.	5	0	11	3
chr1	9601210	9601210	G	A	exonic	TMEM201	.	nonsynonymous SNV	TMEM201:NM_001010866:exon5:c.G712A:p.G238R,TMEM201:NM_001130924:exon5:c.G712A:p.G238R	.	408	1110	4	0	0	4	0.00179856	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.00577101822452	0.0002	.	2.494e-05	0.0002	0	0	0	1.516e-05	0	0	1.94e-05	3	154602	rs140164574	1.438e-05	1.505e-05	1.09e-05	1.79e-05	0.0002	9.24e-06	7.84e-06	9.9e-06	6.42e-06	5.975e-05	0	0	0	3.855e-05	0.0002	1.349e-05	1.657e-05	0	1.971e-05	1.97e-05	1.284e-05	2.689e-05	4.824e-05	5.24e-06	2.45e-06	7.99e-06	2.99e-06	4.824e-05	0	0	0	0	0	0	0	0.0005	0	0.256	0.21801	T	0.076	0.42614	T	0.6	0.39325	P	0.116	0.31939	B	0.354884	0.13758	N	0.683960	1	0.08975	N	0.345	0.11182	N	.	.	.	-0.3	0.13035	N	0.185	0.20129	-0.9898	0.32652	T	0.038	0.16246	T	9	0.059018105	0.07030	T	0.005771	0.14982	T	0.136	0.36778	0.386	0.40624	0.134007934775	0.12933	0.6053182688498677	0.60462	0.313395540334	0.33629	0.300272077322	0.10441	T	0.003693	0.03101	T	-0.222885	0.17600	T	-0.321267	0.42436	T	0.0159682985395193	0.00379	T	0.540046	0.18281	T	0.031149263	0.02903	0.03349881	0.02255	0.031149263	0.02903	0.03349881	0.02255	-4.366	0.29092	T	.	.	0.094	0.15654	B	.;.	.;.	1.539692	0.19747	14.42	0.91769660016639087	0.21071	0.14960	0.18674	N	AEFDBCI	0.080059	0.16180	N	-1.02767561257547	0.08033	0.3752269	-1.15027134758559	0.06762	0.3266478	0.971623785105145	0.29302	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	4.98	-3.54	0.04356	0.419000	0.20967	2.155000	0.30939	-0.106000	0.15538	0.050000	0.21411	0.141000	0.23092	0.002000	0.04165	0.3538:0.1168:0.5294:0.0	7.857	0.28653	774	0.48577	.;Transmembrane protein 201, 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	.	.	.	.	.	.	.	.	0.02632	1659.33	33	chr1	9601210	.	G	A	1659.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.63;DP=784;ExcessHet=0;FS=7.249;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.85;ReadPosRankSum=0.527;SOR=1.012	GT:AD:DP:GQ:PL	0/1:90,63:153:99:1673,0,2288	18	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	.	.	.	.	.	.	.	.	0.3158	12694.9	247	chr1	10326244	.	G	C	12694.9	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-6.862;DP=3403;ExcessHet=11.1788;FS=253.081;InbreedingCoeff=-0.4616;MLEAC=12;MLEAF=0.316;MQ=60;MQRankSum=0;QD=4.93;ReadPosRankSum=1.26;SOR=13.474	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:131,80:211:99:0|1:10326244_G_C:1818,0,4430:10326244	7	0	12	0
chr1	10660197	10660197	G	A	exonic	CASZ1	.	nonsynonymous SNV	CASZ1:NM_001079843:exon6:c.C845T:p.T282M,CASZ1:NM_017766:exon6:c.C845T:p.T282M	.	422	1056	40	4	0	48	0.0222222	.	.	.	718055	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.058	.	0.0059	0.00519169	0.0082	0.0015	0.0026	0.0004	0.0067	0.0100	0.0056	0.0135	0.0074837	1157	154602	rs61736951	0.0072	0.0072	0.0068	0.0076	0.0191	0.0071	0.0071	0.0162	0.0151	0.0019	0.0034	0.0160	0.0007	0.0055	0.0191	0.0069	0.0080	0.0150	0.0056	0.0056	0.0051	0.0061	0.0129	0.0053	0.0051	0.0103	0.0094	0.0012	0.0022	0.0059	0.0159	0.0006	0.0047	0.0136	0.0075	0.0090	0.0129	0.189	0.21224	T	0.107	0.37730	T	0.994	0.66517	D	0.669	0.53077	P	0.190046	0.16871	N	0.601187	0.996524	0.22987	N	0.345	0.11182	N	.	.	.	-0.63	0.19720	N	0.255	0.38129	-1.0558	0.12829	T	0.073	0.29675	T	9	0.004262656	0.00085	T	.	.	.	0.058	0.16647	.	.	0.117191471859	0.11215	0.11922760581229094	0.11849	.	.	0.504599630833	0.39469	T	0.201332	0.55919	T	-0.471224	0.00835	T	-0.43798	0.29036	T	0.0267151649434157	0.01504	T	0.822018	0.48145	T	0.041268017	0.06047	0.05852582	0.10829	0.043633867	0.06834	0.05852582	0.10828	-4.584	0.32184	T	.	.	0.086	0.15475	B	.;.	.;.	3.062232	0.41128	21.3	0.99763478845760645	0.85254	0.87686	0.47309	D	AEFBI	0.337971	0.43559	N	0.187735215576894	0.50610	3.249349	0.183295668271457	0.48932	3.102669	0.999283082583387	0.39007	0.646311	0.45356	0	0.653731	0.59785	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	4.38	4.38	0.52019	4.139000	0.57788	6.578000	0.55988	0.618000	0.50648	0.976000	0.34826	1.000000	0.68203	0.214000	0.22296	0.0:0.161:0.839:0.0	13.121	0.58746	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	0	0	1	0	0.014602	0.010101	0.009511	0.011765	0.050000	0.017241	0.024390	0.018939	0.05263	2430.83	34	chr1	10660197	.	G	A	2430.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.81;DP=866;ExcessHet=0.119;FS=1.201;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.22;ReadPosRankSum=0.79;SOR=0.566	GT:AD:DP:GQ:PL	0/1:42,47:89:99:1322,0,1152	17	0	2	0
chr1	13318598	13318598	G	A	exonic	PRAMEF15	.	nonsynonymous SNV	PRAMEF15:NM_001098376:exon2:c.G191A:p.R64H	.	405	1091	26	0	0	26	0.0117754	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.0369774697323	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1472959485	0.0003	0.0067	0.0003	0.0003	0.0013	0.0003	0.0003	0.0007	0.0006	0.0005	0.0002	0.0002	0.0009	9.573e-05	0.0013	0.0003	0.0003	0.0005	0.0003	0.0025	0.0002	0.0003	0.0006	0.0002	0.0002	0.0002	0.0002	0.0004	0.0035	6.657e-05	0	0.0006	0.0002	0	0.0002	0.0005	0.0004	0.525	0.07140	T	0.575	0.08654	T	.	.	.	.	.	.	0.074092	0.02283	N	1.881130	1	0.08975	N	.	.	.	2.79	0.11189	T	-0.55	0.16799	N	0.044	0.01658	-1.0293	0.20681	T	0.015	0.05946	T	8	0.023069829	0.00593	T	0.001222	0.01608	T	.	.	.	.	0.0297737177859	0.01360	0.23243132047722803	0.23158	.	.	0.456076145172	0.32774	T	.	.	.	-0.42041	0.01700	T	-0.841667	0.01074	T	0.0221624638565028	0.00927	T	0.152485	0.01303	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.16973	B	.	.	-0.306877	0.02587	0.318	0.3247514774469345	0.01884	0.00112	0.00708	N	AEFI	0.021848	0.01021	N	-1.54749839839041	0.01549	0.06767291	-1.73690248014379	0.00983	0.04406507	1.1847666085279E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.15	-2.29	0.06419	-0.600000	0.05789	-8.133000	0.01022	-3.802000	0.00059	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	0.2401:0.3173:0.2441:0.1984	0.434	0.00444	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	110.33	64	chr1	13318598	.	G	A	110.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.33;DP=1030;ExcessHet=0;FS=26.225;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=37.22;MQRankSum=-2.018;QD=0.43;ReadPosRankSum=-2.505;SOR=2.745	GT:AD:DP:GQ:PL	0/1:226,29:255:99:124,0,5805	18	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	.	.	.	.	.	.	.	.	0.1471	301.37	169	chr1	15559540	.	G	C	301.37	.	AC=5;AF=0.147;AN=34;BaseQRankSum=-4.195;DP=1968;ExcessHet=1.3;FS=220.707;InbreedingCoeff=-0.1892;MLEAC=5;MLEAF=0.147;MQ=60;MQRankSum=0;QD=0.43;ReadPosRankSum=1.25;SOR=11.019	GT:AD:DP:GQ:PL	0/1:83,22:105:92:92,0,1934	12	0	5	2
chr1	16563946	16563946	C	T	exonic	NBPF1	.	unknown	UNKNOWN	.	400	294	827	1	0	829	0.585039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1105	.	0.2789	0.2174	0.2967	0.1361	0.3057	0.2989	0.2631	0.2918	0.0008473	131	154602	rs3863779	0.0001	0.0001	0.0003	0	0.0012	0	0	.	.	0	0	0	.	0	0	0	0	0.0012	0	0.0026	0	0	.	0	0	.	.	0	.	0	0	.	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.336496	0.271084	0.351499	0.376068	0.277778	0.344828	0.297297	0.384000	0.4737	51491.3	662	chr1	16563946	.	C	T	51491.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.392;DP=11359;ExcessHet=38.2876;FS=1.376;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=59.03;MQRankSum=-9.117;QD=4.97;ReadPosRankSum=0.26;SOR=0.583	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:179,225:404:99:.:.:6450,0,4684:.	1	0	18	0
chr1	16563989	16563989	G	C	exonic	NBPF1	.	unknown	UNKNOWN	.	391	314	816	1	0	818	0.565698	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3891	0.2879	0.4120	0.2492	0.4146	0.4143	0.3885	0.3951	0.0044437	687	154602	rs12117084	0	0.0002	0	0	.	0	0	.	.	0	0	0	.	0	0	0	0	0	0.0016	0.0027	0.0029	0	0.0030	0	0	.	.	0	.	0	0	.	0	0	0.0030	0	0	.	.	.	0.03	0.54159	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.353	0.39457	.	.	.	.	.	.	.	0.0024681687	0.00037	T	.	.	.	.	.	.	.	.	.	0.02352237282194909	0.02304	.	.	0.575379014015	0.49435	T	.	.	.	-0.455599	0.01046	T	-0.892213	0.00559	T	.	.	.	0.687031	0.29593	T	.	.	.	.	.	.	.	.	-3.451	0.15752	T	.	.	0.172	0.37820	B	.	.	0.069283	0.04780	1.396	0.1972110124842818	0.00678	0.00975	0.03723	N	AEFDBCIJ	0.029075	0.02679	N	.	.	.	.	.	.	7.36511087105358E-4	0.07723	0.383005	0.05895	0	0.332388	0.05802	1	0.457825	0.06646	0	0.467017	0.07116	0	.	.	0.566	0.566	0.16501	-0.694000	0.05217	-10.261000	0.00721	-1.511000	0.01016	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	497	0.76227	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.358989	0.280488	0.387978	0.366379	0.277778	0.379310	0.324138	0.412000	0.4737	58952.3	662	chr1	16563989	.	G	C	58952.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.668;DP=14939;ExcessHet=38.2876;FS=0;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=59.58;MQRankSum=-4.89;QD=4.25;ReadPosRankSum=-0.231;SOR=0.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:316,233:549:99:.:.:5589,0,9289:.	1	0	18	0
chr1	16563991	16563991	T	C	exonic	NBPF1	.	unknown	UNKNOWN	.	383	1126	13	0	0	13	0.00573951	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs3863781	0	1.983e-05	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1616.33	662	chr1	16563991	.	T	C	1616.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.24;DP=14379;ExcessHet=0;FS=10.414;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.06;MQRankSum=-21.87;QD=2.9;ReadPosRankSum=-0.837;SOR=1.768	GT:AD:DP:GQ:PL	0/1:482,75:557:99:1630,0,19908	18	0	1	0
chr1	16563992	16563992	C	A	exonic	NBPF1	.	unknown	UNKNOWN	.	383	1126	13	0	0	13	0.00573951	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00307741360861	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs3863782	0	2.139e-05	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	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.16168	.	.	.	.	.	.	.	0.11837649	0.22378	T	0.003077	0.06666	T	.	.	.	.	0.491729458163	0.48807	0.016383950542376322	0.01594	.	.	0.511291742325	0.40403	T	.	.	.	-0.501672	0.00560	T	-0.958394	0.00237	T	.	.	.	0.550145	0.18957	T	.	.	.	.	.	.	.	.	-2.997	0.10149	T	.	.	0.052	0.00220	B	.	.	-0.660805	0.01414	0.083	0.30337347858734137	0.01654	0.00106	0.00678	N	AEFDBCIJ	0.012013	0.00120	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	-1.931000	0.01647	-12.166000	0.00545	-0.473000	0.05086	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	.	.	.	.	.	.	.	.	0.02632	1676.33	662	chr1	16563992	.	C	A	1676.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=8.34;DP=14381;ExcessHet=0;FS=12.091;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.12;MQRankSum=-21.78;QD=3.03;ReadPosRankSum=-0.673;SOR=1.738	GT:AD:DP:GQ:PL	0/1:477,77:554:99:1690,0,16614	18	0	1	0
chr1	16564005	16564005	G	A	exonic	NBPF1	.	unknown	UNKNOWN	.	385	1131	6	0	0	6	0.0026455	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00348268277819	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs3981558	0	1.846e-05	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	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.01911	.	.	.	.	.	.	.	0.05718124	0.06529	T	0.003483	0.07878	T	.	.	.	.	0.0138822411134	0.00435	0.005009461664648705	0.00472	.	.	0.567959308624	0.48388	T	.	.	.	-0.525271	0.00410	T	-0.992292	0.00154	T	.	.	.	0.510449	0.16283	T	.	.	.	.	.	.	.	.	-4.047	0.24504	T	.	.	0.069	0.03266	B	.	.	-0.969870	0.00815	0.027	0.33696564739189572	0.02021	0.00193	0.01117	N	AEFDBHCIJ	0.018569	0.00573	N	.	.	.	.	.	.	0.00174573892706999	0.08839	0.383005	0.05895	0	0.063085	0.00849	2	0.457825	0.06646	0	0.467017	0.07116	0	.	.	0.566	-0.771	0.10448	-2.074000	0.01463	-4.208000	0.02281	-2.599000	0.00235	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1257.33	662	chr1	16564005	.	G	A	1257.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=10.3;DP=14419;ExcessHet=0;FS=8.452;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.99;MQRankSum=-21.42;QD=2.16;ReadPosRankSum=-1.182;SOR=1.479	GT:AD:DP:GQ:PL	0/1:502,81:583:99:1271,0,14465	18	0	1	0
chr1	16564144	16564144	C	T	exonic	NBPF1	.	unknown	UNKNOWN	.	396	90	1031	5	0	1041	0.85258	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4583	0.3425	0.4588	0.4722	0.4820	0.4666	0.4640	0.4780	0.0474489	1235	26028	rs1043750	0.0010	0.0018	0.0014	0.0006	0.0011	0.0005	0.0004	0.0006	0.0004	0	0	0	.	0.0027	0	0.0011	0.0016	0	0	0.0038	0	0	.	0	0	.	.	.	.	0	.	.	0	.	0	.	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.428814	0.400000	0.425272	0.420168	0.375000	0.439655	0.440559	0.455645	0.5	93987.4	684	chr1	16564144	.	C	T	93987.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.71;DP=11427;ExcessHet=48.2876;FS=0.565;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=53.33;MQRankSum=-18.63;QD=8.46;ReadPosRankSum=0.533;SOR=0.791	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:356,147:503:99:0|1:16564103_T_A:3311,0,12184:16564103	0	0	19	0
chr1	16564149	16564149	C	T	exonic	NBPF1	.	unknown	UNKNOWN	.	397	86	1030	9	0	1048	0.859016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4934	0.4863	0.4979	0.4883	0.4979	0.4937	0.49	0.4947	0.0530967	1382	26028	rs2992339	0.0004	0.0011	0.0002	0.0006	0.0006	0.0001	8.492e-05	0.0002	0.0001	0	0	0	.	0	0	0.0006	0	0	0	0.0048	0	0	.	0	0	.	.	.	.	0	.	.	.	.	0	.	0	.	.	.	0.027	0.57587	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.14196	.	.	.	.	.	.	.	0.0017973781	0.00024	T	.	.	.	.	.	.	.	.	.	0.0179163774864188	0.01745	.	.	0.506860494614	0.39783	T	.	.	.	-0.443409	0.01235	T	-0.874703	0.00699	T	.	.	.	0.69743	0.33655	T	.	.	.	.	.	.	.	.	-6.206	0.47972	T	.	.	0.161	0.35519	B	.;.	.;.	1.213019	0.16064	12.29	0.62062331923232983	0.06867	0.00721	0.03037	N	AEFBCI	0.018716	0.00589	N	.	.	.	.	.	.	7.30078675238498E-5	0.04552	0.109238	0.02860	1	0.063085	0.00849	2	0.155693	0.03940	1	0.195052	0.04227	1	.	.	0.566	-0.824	0.10266	0.108000	0.15232	-3.220000	0.02960	0.312000	0.19173	0.030000	0.20431	0.000000	0.08366	0.016000	0.10718	.	.	.	497	0.76227	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.483089	0.444444	0.491848	0.487395	0.375000	0.500000	0.478873	0.492000	0.5	96026.4	662	chr1	16564149	.	C	T	96026.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=0.096;DP=10999;ExcessHet=48.2876;FS=0;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=53.16;MQRankSum=6.94;QD=8.93;ReadPosRankSum=-0.939;SOR=0.695	GT:AD:DP:GQ:PL	0/1:305,181:486:99:4645,0,9997	0	0	19	0
chr1	16564186	16564186	C	G	exonic	NBPF1	.	unknown	UNKNOWN	.	373	1100	49	0	0	49	0.0217875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0087	0.0025	0.0043	0	0.0106	0.0127	0.01	0.0034	0.0072444	1120	154602	rs200760413	0	2.379e-05	0	0	.	0	0	.	.	0	0	0	.	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.69154	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334	0.37509	.	.	.	.	.	.	.	0.007929355	0.00180	T	.	.	.	.	.	.	.	0.0884992946249	0.08302	0.07312084663879208	0.07249	.	.	0.449560642242	0.31884	T	.	.	.	-0.456395	0.01035	T	-0.535872	0.18705	T	.	.	.	0.973753	0.92190	D	.	.	.	.	.	.	.	.	-6.486	0.50178	T	.	.	0.619	0.69641	P	.;.	.;.	1.785020	0.22693	15.72	0.44714069370902609	0.03458	0.00541	0.02492	N	AEFBCI	0.039570	0.05765	N	.	.	.	.	.	.	2.85478778828593E-4	0.06355	0.071217	0.01513	1	0.046471	0.00084	3	0.066767	0.01867	0	0.123	0.03924	1	.	.	0.566	-1.13	0.09274	-0.422000	0.07110	-7.525000	0.01138	0.312000	0.19173	0.005000	0.17040	0.000000	0.08366	0.015000	0.10482	.	.	.	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	0.036976	0.054945	0.042120	0.024793	0.000000	0.025862	0.026846	0.015873	0.07895	3394.79	120	chr1	16564186	.	C	G	3394.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=2.41;DP=4142;ExcessHet=0.3672;FS=1.765;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=51.95;MQRankSum=3.73;QD=2.98;ReadPosRankSum=2.19;SOR=0.845	GT:AD:DP:GQ:PL	0/1:216,103:319:99:2546,0,6550	16	0	3	0
chr1	16567194	16567194	C	T	exonic	NBPF1	.	unknown	UNKNOWN	.	320	1198	4	0	0	4	0.00166667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00201606055448	.	.	0.0015	0.0002	0.0010	0	0.0017	0.0021	0.0022	0.0006	3.84e-05	1	26028	rs201227350	1.521e-05	9.119e-05	4.614e-06	2.464e-05	4.432e-05	6.32e-06	5.06e-06	7.35e-06	2.75e-06	0	0	0	0	0	0	1.432e-05	3.826e-05	4.432e-05	0.0002	0.0008	0.0001	0.0002	0.0004	9.886e-05	8.248e-05	0.0002	0.0002	0.0004	0	0.0003	0	0	0	0	1.69e-05	0	0	.	.	.	0.073	0.43531	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.13055	.	.	.	.	.	.	.	0.026126415	0.00787	T	0.002016	0.03642	T	.	.	.	.	0.0482279557977	0.04254	0.0176024254427243	0.01715	.	.	0.494684576988	0.38088	T	.	.	.	-0.115579	0.33850	T	-0.403797	0.32943	T	.	.	.	0.524448	0.19565	T	.	.	.	.	.	.	.	.	-4.296	0.28121	T	.	.	0.184	0.40015	B	.;.	.;.	1.724927	0.21960	15.42	0.34755023133612578	0.02143	0.03879	0.09247	N	AEFDBHCI	0.027977	0.02381	N	.	.	.	.	.	.	0.475729541921844	0.20744	0.383005	0.05895	0	0.127614	0.03486	1	0.457825	0.06646	0	0.393	0.06807	0	.	.	.	.	.	0.142000	0.15917	-7.866000	0.01071	0.193000	0.17869	0.001000	0.13787	0.000000	0.08366	0.004000	0.06068	.	.	.	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	0.009004	0.035354	0.004076	0.008197	0.000000	0.000000	0.000000	0.000000	0.05263	1509.83	169	chr1	16567194	.	C	T	1509.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.54;DP=4028;ExcessHet=0.119;FS=21.137;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=56.86;MQRankSum=-16.71;QD=1.57;ReadPosRankSum=-2.761;SOR=2.038	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:445,65:510:99:0|1:16567194_C_T:1322,0,18249:16567194	17	0	2	0
chr1	16567196	16567196	C	A	exonic	NBPF1	.	unknown	UNKNOWN	.	321	1196	5	0	0	5	0.00208594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00170016907422	.	.	0.0015	0.0002	0.0010	0	0.0017	0.0021	0.0022	0.0007	3.84e-05	1	26028	rs4098127	1.514e-05	9.171e-05	9.186e-06	2.045e-05	2.216e-05	6.29e-06	4.05e-06	6.21e-06	3.79e-06	0	0	0	0	0	0	1.78e-05	3.811e-05	2.216e-05	0.0001	0.0008	0.0001	0.0001	0.0004	8.06e-05	6.639e-05	0.0002	0.0001	0.0003	0	0.0004	0	0	0	0	1.688e-05	0	0	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.157	0.16308	.	.	.	.	.	.	.	0.020040601	0.00456	T	0.002	0.02830	T	.	.	.	.	0.242244723065	0.23846	0.017449181371216604	0.01699	.	.	0.515456080437	0.40988	T	.	.	.	-0.574816	0.00207	T	-1.06346	0.00053	T	.	.	.	0.754824	0.37774	T	.	.	.	.	.	.	.	.	1.678	0.00070	T	.	.	0.052	0.00452	B	.;.	.;.	-0.308216	0.02582	0.317	0.42360340498844201	0.03117	0.00419	0.02071	N	AEFDBHCI	0.013538	0.00184	N	.	.	.	.	.	.	0.991563087142619	0.32531	0.383005	0.05895	0	0.127614	0.03486	1	0.457825	0.06646	0	0.393	0.06807	0	.	.	.	.	.	-1.391000	0.02631	-8.709000	0.00926	-0.880000	0.02471	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	.	.	.	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	0.005826	0.020202	0.002717	0.008197	0.000000	0.000000	0.000000	0.000000	0.05263	1537.83	169	chr1	16567196	.	C	A	1537.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=4.43;DP=4034;ExcessHet=0.119;FS=21.18;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=56.98;MQRankSum=-16.71;QD=1.6;ReadPosRankSum=-2.299;SOR=2.062	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:445,66:511:99:0|1:16567194_C_T:1350,0,18246:16567194	17	0	2	0
chr1	16574538	16574538	T	G	exonic	NBPF1	.	unknown	UNKNOWN	.	378	1133	11	0	0	11	0.00483092	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00255537321776	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1205899729	2.131e-05	7.116e-05	2.599e-05	1.658e-05	0.0005	1.527e-05	1.331e-05	8.062e-05	3.378e-05	0	2.238e-05	0.0005	0	0	0.0005	7.223e-06	8.326e-05	1.162e-05	6.68e-06	1.317e-05	1.304e-05	0	6.659e-05	0	0	.	.	0	0	6.659e-05	0	0	0	0	0	0	0	.	.	.	0.236	0.30339	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.162	0.17002	.	.	.	.	.	.	.	0.07845396	0.12504	T	0.002555	0.05121	T	.	.	.	.	0.0551355673512	0.04727	0.004757327794659995	0.00448	.	.	0.50318467617	0.39271	T	.	.	.	-0.510013	0.00502	T	-0.970375	0.00205	T	.	.	.	0.762924	0.38892	T	.	.	.	.	.	.	.	.	-2.71	0.07387	T	.	.	0.162	0.36791	B	.;.	.;.	-0.252310	0.02833	0.395	0.24866931884223301	0.01120	0.00223	0.01258	N	AEFI	0.040347	0.05989	N	.	.	.	.	.	.	7.51105256592444E-5	0.04552	0.360735	0.05675	0	0.346384	0.05893	0	0.292756	0.05521	0	0.370666	0.05837	0	.	.	0.626	-1.06	0.09491	-0.510000	0.06411	-0.782000	0.07450	-1.750000	0.00690	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	442	0.79946	.;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	.	.	.	.	.	.	.	.	0.02632	3732.33	143	chr1	16574538	.	T	G	3732.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.783;DP=2529;ExcessHet=0;FS=5.188;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=33.18;MQRankSum=0.1;QD=8.72;ReadPosRankSum=0.55;SOR=0.772	GT:AD:DP:GQ:PL	0/1:270,158:428:99:3746,0,7185	18	0	1	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	0.3947	6040.85	31	chr1	16579293	.	A	G	6040.85	.	AC=15;AF=0.395;AN=38;BaseQRankSum=1.77;DP=1318;ExcessHet=20.8569;FS=134.742;InbreedingCoeff=-0.6523;MLEAC=15;MLEAF=0.395;MQ=36.18;MQRankSum=0.737;QD=5.79;ReadPosRankSum=-1.129;SOR=6.448	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:49,16:65:99:0|1:16579293_A_G:524,0,2001:16579293	4	0	15	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	0.3947	6040.85	31	chr1	16579294	.	T	C	6040.85	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-5.638;DP=1314;ExcessHet=20.8569;FS=134.742;InbreedingCoeff=-0.6523;MLEAC=15;MLEAF=0.395;MQ=36.15;MQRankSum=0.737;QD=5.79;ReadPosRankSum=-1.044;SOR=6.448	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:49,16:65:99:0|1:16579293_A_G:524,0,2001:16579293	4	0	15	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	0.3421	3927.26	26	chr1	16579305	.	G	A	3927.26	.	AC=13;AF=0.342;AN=38;BaseQRankSum=3.46;DP=1255;ExcessHet=13.8672;FS=130.665;InbreedingCoeff=-0.52;MLEAC=13;MLEAF=0.342;MQ=36.03;MQRankSum=0.61;QD=4.49;ReadPosRankSum=-0.348;SOR=6.491	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:49,12:61:99:0|1:16579305_G_A:350,0,2001:16579305	6	0	13	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	0.2895	1867.3	26	chr1	16579308	.	G	C	1867.3	.	AC=11;AF=0.289;AN=38;BaseQRankSum=0.811;DP=1250;ExcessHet=8.9063;FS=99.423;InbreedingCoeff=-0.4082;MLEAC=11;MLEAF=0.289;MQ=35.97;MQRankSum=0.588;QD=2.62;ReadPosRankSum=-0.44;SOR=7.204	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:52,12:64:99:0|1:16579305_G_A:341,0,2102:16579305	8	0	11	0
chr1	16587780	16587780	C	A	exonic	NBPF1	.	unknown	UNKNOWN	.	390	1128	4	0	0	4	0.00176991	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00546598309976	.	.	0.0001	0	8.646e-05	0	0.0002	0.0002	0	6.058e-05	3.84e-05	1	26028	rs770461959	2.054e-06	6.43e-05	2.724e-06	1.376e-06	0.0002	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0.0002	0	1.657e-05	1.16e-05	3.945e-05	0.0004	1.287e-05	6.724e-05	7.369e-05	1.716e-05	1.13e-05	2.852e-05	1.862e-05	0	0	0	0.0003	0	0	0	7.369e-05	0	0	.	.	.	0.004	0.76473	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	0.24634	.	.	.	.	.	.	.	0.111156285	0.20804	T	0.005466	0.14045	T	.	.	.	.	0.364926071151	0.36103	0.04522220431681719	0.04466	.	.	0.557098805904	0.46858	T	.	.	.	-0.0659451	0.41974	T	-0.332502	0.41190	T	.	.	.	0.906409	0.67021	D	.	.	.	.	.	.	.	.	-9.658	0.71839	D	.	.	0.196	0.41723	B	.;.	.;.	2.400569	0.30838	18.56	0.53403291675194176	0.04933	0.00501	0.02358	N	AEFBI	0.034368	0.04245	N	.	.	.	.	.	.	0.796372306263757	0.24107	0.145562	0.03210	1	0.156256	0.03748	2	0.121787	0.03316	0	0.221052	0.04502	0	.	.	0.338	0.338	0.15214	0.884000	0.27851	-7.037000	0.01246	0.446000	0.21189	0.521000	0.27119	0.000000	0.08366	0.007000	0.07825	.	.	.	451	0.79296	.;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	0.001148	0.000000	0.000000	0.000000	0.000000	0.000000	0.003546	0.000000	0.02632	162.33	734	chr1	16587780	.	C	A	162.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.635;DP=11681;ExcessHet=0;FS=7.902;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=51.87;MQRankSum=-10.12;QD=0.41;ReadPosRankSum=0.386;SOR=1.24	GT:AD:DP:GQ:PL	0/1:343,49:392:99:176,0,9734	18	0	1	0
chr1	16591991	16591991	C	T	exonic	NBPF1	.	unknown	UNKNOWN	.	383	1060	79	0	0	79	0.0359254	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0043	0.0129792	0.0297	0.0079	0.0171	0.0005	0.0368	0.0429	0.0268	0.0118	0.0239389	3701	154602	rs199564458	0.0002	0.0002	0.0002	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	0.0002	2.238e-05	3.831e-05	0	0	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0002	0.0004	0	0	0	0	0	0	0.0002	0	0	.	.	.	0.197	0.27855	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.258	0.29197	.	.	.	.	.	.	.	0.003590405	0.00065	T	.	.	.	.	.	.	.	.	.	0.05074882340970097	0.05016	.	.	0.617227673531	0.55337	T	.	.	.	-0.342333	0.05228	T	-0.729514	0.04349	T	.	.	.	0.806819	0.45619	T	.	.	.	.	.	.	.	.	-7.512	0.57695	D	.	.	0.081	0.08465	B	.;.	.;.	-0.110497	0.03581	0.696	0.68576904222900414	0.08701	0.00301	0.01603	N	AEFDBHCIJ	0.037390	0.05136	N	.	.	.	.	.	.	0.99999989870109	0.74766	0.205481	0.04072	1	0.188433	0.04229	0	0.216804	0.04610	0	0.364879	0.05822	1	.	.	0.566	-1.13	0.09274	-3.599000	0.00468	-6.832000	0.01295	-4.637000	0.00024	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	452	0.79239	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.044824	0.040816	0.053134	0.066116	0.050000	0.051724	0.040625	0.027344	0.1316	8656.37	608	chr1	16591991	.	C	T	8656.37	.	AC=5;AF=0.132;AN=38;BaseQRankSum=1.82;DP=8027;ExcessHet=1.3;FS=0;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=56.13;MQRankSum=-1.205;QD=2.61;ReadPosRankSum=-1.032;SOR=0.694	GT:AD:DP:GQ:PL	0/1:486,226:712:99:5190,0,12130	14	0	5	0
chr1	16757526	16757526	C	G	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon14:c.G1900C:p.A634P	.	384	766	370	1	1	373	0.195378	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.404	.	.	.	0.1053	0.0655	0.1365	0.0133	0.1064	0.1147	0.0930	0.1251	0.0830326	12837	154602	rs2446543	6.846e-06	7.593e-05	8.174e-06	5.505e-06	3.482e-05	3.46e-06	2.52e-06	9.25e-06	4.56e-06	2.99e-05	0	0	0	0	0	5.4e-06	0	3.482e-05	2.629e-05	0.0002	3.858e-05	1.344e-05	6.547e-05	8.14e-06	5.14e-06	1.172e-05	6.25e-06	0	0	6.547e-05	0	0	0	0	4.416e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2368	10174.8	362	chr1	16757526	.	C	G	10174.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-1.788;DP=7182;ExcessHet=5.3738;FS=0;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=40.73;MQRankSum=-1.674;QD=3.1;ReadPosRankSum=0.131;SOR=0.642	GT:AD:DP:GQ:PL	0/1:221,106:327:99:2441,0,6392	10	0	9	0
chr1	16757769	16757769	A	G	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon13:c.T1753C:p.W585R	.	328	1192	2	0	0	2	0.000838223	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.501	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1208009967	0.0001	0.0003	8.881e-05	0.0002	0.0006	0.0001	9.59e-05	0.0004	0.0004	0.0002	0.0001	0	0	4.867e-05	0.0006	8.973e-05	0.0002	0.0006	0.0005	0.0015	0.0005	0.0005	0.0014	0.0004	0.0004	0.0006	0.0004	0.0003	0	0.0004	0.0003	0	0.0010	0	0.0006	0	0.0014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	610.33	726	chr1	16757769	.	A	G	610.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.616;DP=7434;ExcessHet=0;FS=6.472;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=50.95;MQRankSum=-10.54;QD=1.25;ReadPosRankSum=0.599;SOR=0.559	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:418,70:488:99:0|1:16757769_A_G:624,0,13627:16757769	18	0	1	0
chr1	16758880	16758880	T	C	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon10:c.A1316G:p.D439G	.	361	1134	27	0	0	27	0.0117647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	.	.	.	0.0089	0.0319	0.0046	0	0.0093	0.0088	0.0080	0.0046	0.0001921	5	26028	rs28695262	0.0002	0.0015	0.0003	0.0002	0.0045	0.0002	0.0002	0.0039	0.0037	0.0045	0.0002	0.0002	0	0	0.0003	0.0001	0.0003	0.0002	0.0014	0.0035	0.0015	0.0014	0.0042	0.0013	0.0012	0.0036	0.0034	0.0042	0	0.0006	0	0	0.0004	0	0.0006	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	.	.	.	.	.	.	.	.	0.02632	1264.33	50	chr1	16758880	.	T	C	1264.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.91;DP=3330;ExcessHet=0;FS=24.137;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=48.16;MQRankSum=-4.381;QD=3.32;ReadPosRankSum=-1.012;SOR=1.781	GT:AD:DP:GQ:PL	0/1:306,75:381:99:1278,0,9095	18	0	1	0
chr1	16758952	16758952	G	A	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon10:c.C1244T:p.P415L	.	333	1136	53	0	0	53	0.0227957	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	.	.	.	0.0252	0.0141	0.0169	0	0.0352	0.0336	0.0278	0.0134	0.0211511	3270	154602	rs202225848	0.0008	0.0071	0.0008	0.0008	0.0009	0.0008	0.0007	0.0009	0.0009	0.0003	0.0003	0.0004	0	0.0003	0.0005	0.0009	0.0006	0.0007	0.0021	0.0095	0.0020	0.0022	0.0031	0.0019	0.0018	0.0024	0.0021	0.0006	0.0023	0.0031	0.0024	0	0.0047	0	0.0025	0.0025	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	.	.	.	.	.	.	.	.	0.05556	3589.58	412	chr1	16758952	.	G	A	3589.58	.	AC=2;AF=0.056;AN=36;BaseQRankSum=0.07;DP=10167;ExcessHet=0.119;FS=5.322;InbreedingCoeff=-0.0704;MLEAC=2;MLEAF=0.056;MQ=50.32;MQRankSum=-4.417;QD=3.36;ReadPosRankSum=1.48;SOR=1.198	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:362,156:518:99:.:.:3149,0,12440:.	16	0	2	1
chr1	16759377	16759377	A	G	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon8:c.T949C:p.W317R	.	399	1097	25	1	0	27	0.0121567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	.	.	.	0.0065	0.0094	0.0043	0.0021	0.0065	0.0062	0.0037	0.0104	0.000461	12	26028	rs1806514	0.0001	0.0022	9.6e-05	0.0001	0.0004	9.186e-05	8.712e-05	0.0002	0.0002	0.0004	6.771e-05	7.747e-05	0.0002	7.612e-05	0.0002	9.597e-05	0.0002	8.16e-05	0.0007	0.0055	0.0007	0.0007	0.0010	0.0006	0.0005	0.0008	0.0007	0.0010	0.0012	0.0009	0	0	0.0006	0	0.0005	0.0010	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	.	.	.	.	.	.	.	.	0.05263	634.83	144	chr1	16759377	.	A	G	634.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.66;DP=3034;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=49.38;MQRankSum=-6.601;QD=2.05;ReadPosRankSum=-1.176;SOR=0.64	GT:AD:DP:GQ:PL	0/1:119,25:144:99:332,0,3314	17	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6579	11605.2	33	chr1	16759590	.	G	GC	11605.2	.	AC=25;AF=0.658;AN=38;BaseQRankSum=4.81;DP=1524;ExcessHet=5.6906;FS=11.534;InbreedingCoeff=-0.2845;MLEAC=25;MLEAF=0.658;MQ=44.88;MQRankSum=-2.822;QD=9.07;ReadPosRankSum=-3.116;SOR=0.816	GT:AD:DP:GQ:PL	1/1:0,25:25:75:880,75,0	1	7	11	0
chr1	16760442	16760442	G	T	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon4:c.C387A:p.N129K	.	382	1064	76	0	0	76	0.0344828	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.281	.	.	.	0.0106	0.0089	0.0060	0	0.0183	0.0138	0.0126	0.0040	3.84e-05	1	26028	rs772310681	0.0016	0.0086	0.0017	0.0015	0.0027	0.0015	0.0015	0.0017	0.0017	0.0004	0.0002	0.0007	0	0.0028	0.0027	0.0018	0.0011	0.0005	0.0009	0.0060	0.0009	0.0009	0.0012	0.0008	0.0007	0.0010	0.0009	0.0003	0	0.0008	0.0009	0	0.0017	0	0.0012	0.0020	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	2398.79	158	chr1	16760442	.	G	T	2398.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.524;DP=3653;ExcessHet=0.3672;FS=2.875;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=42.76;MQRankSum=-0.462;QD=3.56;ReadPosRankSum=-0.505;SOR=1.197	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:144,48:192:99:0|1:16760442_G_T:1547,0,5853:16760442	16	0	3	0
chr1	16760445	16760446	AC	-	exonic	MST1L	.	frameshift deletion	MST1L:NM_001271733:exon4:c.383_384del:p.R128Qfs*3	.	382	1066	74	0	0	74	0.0335449	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0107	0.0089	0.0060	0	0.0183	0.0139	0.0127	0.0041	0.001191	31	26028	rs748266310	0.0014	0.0085	0.0015	0.0013	0.0023	0.0013	0.0013	0.0015	0.0015	0.0003	0.0002	0.0007	0	0.0027	0.0023	0.0016	0.0010	0.0005	0.0008	0.0060	0.0008	0.0009	0.0011	0.0007	0.0007	0.0009	0.0008	0.0003	0	0.0009	0.0009	0	0.0015	0	0.0011	0.0010	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	2353.75	158	chr1	16760444	.	TAC	T	2353.75	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.742;DP=3685;ExcessHet=0.3672;FS=5.613;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=43.11;MQRankSum=-0.727;QD=3.42;ReadPosRankSum=-0.201;SOR=1.23	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:149,48:197:99:0|1:16760442_G_T:1532,0,6013:16760442	16	0	3	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	.	.	.	.	.	.	.	.	0.2632	6194.53	158	chr1	16760446	.	C	T	6194.53	.	AC=10;AF=0.263;AN=38;BaseQRankSum=2.09;DP=4206;ExcessHet=6.9875;FS=15.967;InbreedingCoeff=-0.3571;MLEAC=10;MLEAF=0.263;MQ=44.64;MQRankSum=-0.667;QD=2.69;ReadPosRankSum=0.492;SOR=1.882	GT:AD:DP:GQ:PL	0/1:80,68:196:99:1810,0,2242	9	0	10	0
chr1	16760848	16760848	G	C	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon3:c.C241G:p.H81D	.	321	1179	22	0	0	22	0.0092437	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	.	.	.	0.0022	0.0031	0.0012	0	0.0029	0.0027	0.0011	0.0013	0.0023609	365	154602	rs186420363	6.955e-05	0.0005	6.712e-05	7.2e-05	0.0007	5.818e-05	5.427e-05	0.0005	0.0004	0.0007	2.291e-05	0	0	1.894e-05	0	4.791e-05	5.004e-05	0.0002	0.0002	0.0014	0.0002	0.0002	0.0006	0.0002	0.0001	0.0004	0.0004	0.0006	0	6.575e-05	0.0006	0	0.0002	0	2.955e-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	.	.	.	.	.	.	.	.	0.07895	3896.79	315	chr1	16760848	.	G	C	3896.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.661;DP=9024;ExcessHet=0.3672;FS=3.522;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=57.61;MQRankSum=-10.22;QD=2.48;ReadPosRankSum=0.785;SOR=1.108	GT:AD:DP:GQ:PL	0/1:357,156:513:99:3443,0,10768	16	0	3	0
chr1	18918458	18918458	C	G	exonic	IFFO2	.	nonsynonymous SNV	IFFO2:NM_001136265:exon4:c.G867C:p.K289N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.413	0.0987002507574	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1475140329	1.419e-06	2.052e-06	2.805e-06	0	1.844e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.844e-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	0.031	0.45039	D	0.346	0.17696	T	0.988	0.62325	D	0.613	0.51171	P	0.000106	0.50451	D	0.200575	0.999233	0.46406	D	2.14	0.59869	M	-1.97	0.85173	D	-2.91	0.60982	D	0.429	0.46835	0.142	0.84920	D	0.573	0.84549	D	10	0.4285938	0.57340	T	0.099	0.76985	D	0.413	0.72404	0.456	0.52102	0.922567126442	0.92178	0.801065137185806	0.80060	1.80411115478	0.91699	0.844749987125	0.88819	D	0.137293	0.47015	T	-0.0252901	0.48096	T	-0.274104	0.47403	T	0.949003212611583	0.63018	D	0.976602	0.91883	D	0.60837525	0.73141	0.29877147	0.55911	0.60837525	0.73142	0.29877147	0.55910	-12.512	0.87255	D	.	.	0.978	0.90737	P	.	.	3.872617	0.56234	23.7	0.99820143434753239	0.90326	0.85181	0.44292	D	AEFDBHCI	0.411150	0.48174	N	0.390391373002397	0.60901	4.284334	0.388775871793518	0.60872	4.279861	0.999999882887717	0.74766	0.758104	0.99027	0	0.724815	0.89359	0	0.691618	0.62860	0	0.714379	0.83352	0	.	.	5.28	4.37	0.51830	1.882000	0.39283	2.066000	0.30419	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.9209:0.0:0.0791	12.928	0.57668	940	0.13648	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	.	.	.	.	.	.	.	.	0.02632	112.36	36	chr1	18918458	.	C	G	112.36	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.97;DP=1211;ExcessHet=0;FS=126.029;InbreedingCoeff=-0.0291;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.96;ReadPosRankSum=0.652;SOR=6.735	GT:AD:DP:GQ:PL	0/1:89,28:117:99:126,0,1745	18	0	1	0
chr1	20687482	20687482	G	A	exonic	KIF17	.	nonsynonymous SNV	KIF17:NM_001122819:exon8:c.C1844T:p.P615L,KIF17:NM_001287212:exon8:c.C1544T:p.P515L,KIF17:NM_020816:exon8:c.C1844T:p.P615L	.	390	1130	2	0	0	2	0.000884173	.	.	.	2831978	not_provided	MedGen:C3661900	no_assertion_criteria_provided	Uncertain_significance	.	.	.	.	.	.	.	.	0.332	0.0401550087944	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1158816257	9.578e-06	9.577e-06	8.168e-06	1.1e-05	3.478e-05	5.56e-06	4.35e-06	9.24e-06	4.56e-06	0	0	0	2.519e-05	0	0	8.993e-06	0	3.478e-05	1.314e-05	1.313e-05	2.57e-05	0	6.547e-05	2.18e-06	8.2e-07	.	.	0	0	6.547e-05	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.176	0.29843	T	1.0	0.90584	D	0.977	0.73820	D	0.425285	0.12819	U	0.585685	0.99875	0.45389	D	1.1	0.28011	L	-0.56	0.71187	T	-2.0	0.46146	N	0.626	0.66959	-0.1711	0.78401	T	0.469	0.79546	T	10	0.68780684	0.71669	D	0.040155	0.59218	D	0.332	0.65424	0.386	0.40624	0.863687763449	0.86236	0.35689205709592076	0.35603	0.212277476401	0.23727	0.377702593803	0.21930	T	0.02359	0.17979	T	0.0152741	0.53744	T	-0.046708	0.67247	D	0.548565451403183	0.34424	D	0.858514	0.54939	D	0.10962763	0.25919	0.18766001	0.42011	0.10962763	0.25918	0.18766001	0.42010	-3.731	0.19776	T	.	.	0.471	0.63214	A	.;.;.	.;.;.	3.967806	0.58246	24.0	0.99888079286665565	0.96281	0.89699	0.50332	D	AEFBI	0.289401	0.40106	N	0.362510063431277	0.59404	4.119461	0.33053025403612	0.57339	3.899494	0.999944416411925	0.47345	0.695654	0.57023	0	0.59043	0.45803	0	0.723109	0.80598	0	0.567339	0.31927	0	.	.	4.84	4.84	0.62125	4.059000	0.57184	7.659000	0.64126	0.676000	0.76740	0.987000	0.36337	1.000000	0.68203	0.015000	0.10482	0.0:0.0:1.0:0.0	13.650	0.61777	776	0.48302	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1709.33	45	chr1	20687482	.	G	A	1709.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.4;DP=753;ExcessHet=0;FS=16.567;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.86;ReadPosRankSum=0.291;SOR=0.158	GT:AD:DP:GQ:PL	0/1:59,56:115:99:1723,0,1639	18	0	1	0
chr1	25566960	25566960	G	A	exonic	LDLRAP1	.	nonsynonymous SNV	LDLRAP1:NM_015627:exon9:c.G895A:p.G299S	Hypercholesterolemia, familial, autosomal recessive	1	1516	4	1	0	6	0.00197498	.	.	.	1824745	Cardiovascular_phenotype	MedGen:CN230736	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.028	0.00703812821521	.	.	5.961e-05	0	0	0	0	4.646e-05	0	0.0002	4.53e-05	7	154602	rs756172640	4.175e-05	4.173e-05	3.269e-05	5.09e-05	0.0002	3.312e-05	3.002e-05	0.0002	0.0001	0	0	0	0	0	0.0002	3.327e-05	3.312e-05	0.0002	5.252e-05	5.249e-05	1.285e-05	9.399e-05	0.0008	2.555e-05	1.829e-05	0.0003	0.0002	0	0	6.535e-05	0	0	0	0	4.41e-05	0	0.0008	0.683	0.04391	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.531277	0.11636	N	0.807036	1	0.08975	N	1.39	0.34934	L	0.62	0.53302	T	0.06	0.06253	N	0.07	0.04307	-1.0012	0.29574	T	0.079	0.31284	T	10	0.031261176	0.01259	T	0.007038	0.18649	T	0.028	0.06331	0.286	0.24440	0.359763055319	0.35592	0.11973908957432713	0.11900	0.198008946488	0.22175	0.248510450125	0.03613	T	0.179569	0.53061	T	-0.488592	0.00661	T	-0.643413	0.09422	T	0.0131098721176386	0.00230	T	0.668933	0.27772	T	0.01685972	0.00227	0.026326882	0.00716	0.01685972	0.00227	0.026326882	0.00716	-2.703	0.07329	T	.	.	0.065	0.02012	B	.	.	0.335555	0.07092	3.666	0.79830141748910932	0.12920	0.08518	0.14436	N	AEFDBHCI	0.074603	0.14957	N	-1.09352835940422	0.06761	0.3122002	-1.06470596063008	0.08403	0.41303	0.999994831324286	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.779548	0.98927	0	0.727631	0.95156	0	.	.	5.54	1.51	0.22094	0.357000	0.19935	0.154000	0.15327	-0.227000	0.07798	0.000000	0.06391	0.001000	0.17328	0.340000	0.25432	0.2882:0.268:0.4438:0.0	5.513	0.16182	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	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	702.33	33	chr1	25566960	.	G	A	702.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.025;DP=666;ExcessHet=0;FS=2.471;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.63;ReadPosRankSum=-0.876;SOR=0.531	GT:AD:DP:GQ:PL	0/1:19,29:48:99:716,0,424	18	0	1	0
chr1	26282380	26282382	ACT	0	exonic	UBXN11	.	.	.	.	398	787	290	46	1	383	0.195297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4615	1020.95	37	chr1	26282380	.	ACT	*	1020.95	.	AC=12;AF=0.462;AN=26;BaseQRankSum=0.818;DP=1059;ExcessHet=0.0278;FS=14.798;InbreedingCoeff=0.1363;MLEAC=15;MLEAF=0.577;MQ=60;MQRankSum=0;QD=1.79;ReadPosRankSum=0.069;SOR=0.19	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,89:89:99:1|1:26282278_C_T:3859,267,0:26282278	5	4	4	6
chr1	26282383	26282405	GGGGCCGGGACCGGGACCGGGAC	0	exonic	UBXN11	.	.	.	.	382	803	290	46	1	383	0.192153	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	993.49	37	chr1	26282383	.	GGGGCCGGGACCGGGACCGGGAC	*	993.49	.	AC=12;AF=0.429;AN=28;BaseQRankSum=0.041;DP=1069;ExcessHet=0.0278;FS=15.846;InbreedingCoeff=0.1828;MLEAC=14;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.71;ReadPosRankSum=-0.087;SOR=0.188	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,89:89:99:1|1:26282278_C_T:3859,267,0:26282278	6	4	4	5
chr1	26282386	26282392	GCCGGGA	0	exonic	UBXN11	.	.	.	.	476	531	212	27	276	542	0.200301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4062	7050.5	37	chr1	26282386	.	GCCGGGA	*	7050.5	.	AC=13;AF=0.406;AN=32;BaseQRankSum=0.405;DP=1110;ExcessHet=0.1862;FS=10.987;InbreedingCoeff=0.0738;MLEAC=14;MLEAF=0.438;MQ=60;MQRankSum=0;QD=8.38;ReadPosRankSum=1.39;SOR=0.236	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,89:89:99:1|1:26282278_C_T:3859,267,0:26282278	7	4	5	3
chr1	30950129	30950129	T	C	exonic	PUM1	.	nonsynonymous SNV	PUM1:NM_001020658:exon17:c.A2854G:p.I952V	.	432	1072	17	1	0	19	0.0087841	0.2044	0.386	.	2330725	PUM1-related_disorder|not_provided|Inborn_genetic_diseases	.|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.115	0.00648079709676	0.0015	0.00159744	0.0018	0.0006	0.0004	0	0.0026	0.0016	0.0011	0.0053	0.0017464	270	154602	rs146226392	0.0022	0.0022	0.0021	0.0023	0.0048	0.0021	0.0021	0.0045	0.0043	0.0006	0.0002	0.0028	0	0.0028	0.0033	0.0021	0.0020	0.0048	0.0015	0.0016	0.0016	0.0015	0.0037	0.0014	0.0013	0.0024	0.0020	0.0004	0	0.0003	0.0014	0.0002	0.0037	0.0034	0.0022	0.0005	0.0037	0.048	0.41096	D	0.335	0.22426	T	0.794	0.44757	P	0.406	0.44683	B	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	2.56	0.13673	T	-0.12	0.09135	N	0.406	0.45047	-0.8005	0.55115	T	0.220	0.58306	T	10	0.008738935	0.00198	T	0.006481	0.17072	T	0.115	0.32236	.	.	0.253981072376	0.25009	0.43349379434496876	0.43266	0.94141016562	0.72219	0.800033688545	0.81968	T	.	.	.	-0.491766	0.00636	T	-0.478898	0.24562	T	0.0158499845269969	0.00372	T	0.935206	0.76795	D	.	.	.	.	.	.	.	.	-6.86	0.53543	T	.	.	0.163	0.47869	B	.;.;.;.;.	.;.;.;.;.	4.001011	0.58953	24.0	0.99614163822304869	0.74992	0.97769	0.77000	D	AEFBI	0.717234	0.66882	D	0.64073511389563	0.75770	6.365108	0.648192337306219	0.78475	6.884009	0.999764620529313	0.42728	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.26	5.26	0.73479	6.167000	0.71757	5.175000	0.47843	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	15.355	0.74137	946	0.12043	Pumilio homology domain|Pumilio, RNA binding domain;.;.;Pumilio homology domain|Pumilio, RNA binding domain;Pumilio homology domain|Pumilio, RNA binding 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	0.002518	0.000000	0.000000	0.000000	0.000000	0.008621	0.012195	0.003788	0.02632	1498.33	42	chr1	30950129	.	T	C	1498.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.028;DP=763;ExcessHet=0;FS=0.633;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.1;ReadPosRankSum=0.19;SOR=0.633	GT:AD:DP:GQ:PL	0/1:73,62:135:99:1512,0,1943	18	0	1	0
chr1	31433100	31433100	G	A	exonic	SERINC2	.	nonsynonymous SNV	SERINC2:NM_001199037:exon9:c.G1159A:p.G387S,SERINC2:NM_018565:exon9:c.G1159A:p.G387S,SERINC2:NM_178865:exon9:c.G1147A:p.G383S,SERINC2:NM_001199038:exon10:c.G1174A:p.G392S,SERINC2:NM_001199039:exon10:c.G982A:p.G328S	.	.	.	.	.	.	.	.	.	.	.	2756293	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.077	0.00580370762457	0.0002	.	0.0001	0.0003	0.0002	0	0	0.0002	0	0	0.0001229	19	154602	rs139258648	0.0002	0.0002	0.0002	0.0002	0.0005	0.0001	0.0001	0.0001	0.0001	0.0001	6.709e-05	0.0004	2.519e-05	1.888e-05	0.0005	0.0002	0.0003	2.319e-05	0.0001	0.0001	0.0001	0.0001	0.0002	8.17e-05	6.725e-05	9.045e-05	7.01e-05	7.242e-05	0	6.551e-05	0.0009	0.0002	0	0	0.0002	0	0	0.113	0.28772	T	0.119	0.36101	T	.	.	.	.	.	.	0.001927	0.37643	N	0.255793	0.999867	0.50061	D	2.285	0.65182	M	2.56	0.13673	T	-3.76	0.71519	D	0.269	0.30461	-1.0621	0.11239	T	0.027	0.11485	T	10	0.11856571	0.22418	T	0.005804	0.15072	T	0.077	0.22490	.	.	0.144782658237	0.14088	0.7290678967909441	0.72851	0.134925717983	0.15200	0.349360466003	0.17828	T	0.022915	0.17585	T	-0.455196	0.01052	T	-0.612199	0.11807	T	0.179050028324127	0.19175	T	0.915808	0.69967	D	0.05044727	0.09115	0.12748903	0.30689	0.05044727	0.09114	0.12748903	0.30688	-5.517	0.42545	T	.	.	0.075	0.10062	B	.;.;.;.	.;.;.;.	1.770638	0.22515	15.65	0.99313520427835045	0.59092	0.48731	0.28273	N	AEFDGBCI	0.637158	0.61604	D	-0.356854781223742	0.27021	1.479276	-0.390359605734874	0.25282	1.389484	0.999414640880003	0.39577	0.706298	0.61202	0	0.670034	0.63936	0	0.688494	0.62686	0	0.613276	0.41899	0	.	.	4.45	2.5	0.29355	1.207000	0.31938	1.833000	0.29130	0.642000	0.52262	0.866000	0.30720	0.970000	0.29701	0.234000	0.22842	0.0927:0.0:0.5669:0.3404	5.849	0.17934	363	0.84772	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1700.33	40	chr1	31433100	.	G	A	1700.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.24;DP=849;ExcessHet=0;FS=0.696;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.05;ReadPosRankSum=0.573;SOR=0.808	GT:AD:DP:GQ:PL	0/1:61,60:121:99:1714,0,1484	18	0	1	0
chr1	32868303	32868303	G	A	exonic	FNDC5	.	nonsynonymous SNV	FNDC5:NM_001171940:exon3:c.C296T:p.T99M,FNDC5:NM_001171941:exon3:c.C71T:p.T24M,FNDC5:NM_153756:exon3:c.C296T:p.T99M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.893	0.0298973156328	.	.	8.239e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs754092673	1.231e-05	1.231e-05	1.225e-05	1.238e-05	2.987e-05	7.7e-06	6.35e-06	8.52e-06	6.89e-06	2.987e-05	0	0	0	0	0	1.439e-05	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.79402	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	1.965	0.53209	M	.	.	.	.	.	.	0.899	0.90363	-0.1479	0.78967	T	0.409	0.75775	T	9	0.9549825	0.94854	D	0.029897	0.52319	D	0.893	0.96947	.	.	0.493628743246	0.48995	0.6798292325625584	0.67921	.	.	0.877519845963	0.93625	D	0.255414	0.72774	T	0.360855	0.87320	D	0.377421	0.91340	D	0.930347860475047	0.59499	D	0.918608	0.70896	D	0.4956101	0.66836	0.34283602	0.60004	0.4956101	0.66837	0.34283602	0.60003	-6.649	0.65530	T	.	.	0.440	0.61685	A	.;.;.;.	.;.;.;.	5.040055	0.83879	28.2	0.99921656537439407	0.98787	0.98357	0.81958	D	AEFGBI	0.892402	0.82930	D	0.759992945745434	0.83556	8.047896	0.711443853783765	0.83248	7.972154	0.999999999851475	0.74766	0.580535	0.33130	0	0.632674	0.54651	1	0.576033	0.28219	0	0.542086	0.14980	0	.	.	4.67	4.67	0.58089	9.242000	0.94535	9.920000	0.82497	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.485000	0.28678	0.0:0.0:1.0:0.0	16.945	0.86099	371	0.84287	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	.	.	.	.	.	.	.	.	0.02632	1109.33	34	chr1	32868303	.	G	A	1109.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.62;DP=743;ExcessHet=0;FS=1.606;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.77;ReadPosRankSum=-0.267;SOR=0.856	GT:AD:DP:GQ:PL	0/1:59,44:103:99:1123,0,1331	18	0	1	0
chr1	36100236	36100236	C	T	exonic	COL8A2	.	nonsynonymous SNV	COL8A2:NM_005202:exon3:c.G7A:p.G3R	Corneal dystrophy, Fuchs endothelial, 1, Autosomal dominant;Corneal dystrophy, posterior polymorphous 2	0	1493	28	1	0	30	0.00994695	.	.	.	1550119	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.298	.	0.0032	0.00219649	0.007	0.0012	0.0035	0	0.0073	0.0099	0.0152	0.0057	0.0029495	456	154602	rs115156902	0.0055	0.0054	0.0054	0.0056	0.0061	0.0054	0.0054	0.0060	0.0059	0.0007	0.0021	0.0049	0	0.0039	0.0060	0.0061	0.0052	0.0050	0.0034	0.0034	0.0038	0.0031	0.0049	0.0032	0.0031	0.0044	0.0043	0.0013	0	0.0035	0.0063	0.0002	0.0024	0.0068	0.0049	0.0057	0.0046	0.0	0.91255	D	0.048	0.48594	D	0.077	0.24313	B	0.043	0.24256	B	.	.	.	.	1	0.81001	D	1.39	0.34934	L	-3.08	0.92560	D	-2.47	0.53898	N	0.233	0.26233	-0.2288	0.76919	T	0.483	0.80285	T	9	0.007133037	0.00162	T	.	.	.	0.298	0.61843	0.09	0.01023	0.573349579966	0.57003	0.671669233633394	0.67104	0.361323223472	0.37790	0.452545940876	0.32292	T	0.134602	0.46595	T	-0.230093	0.16636	T	-0.0953277	0.63757	T	0.0558326456528416	0.06496	T	0.315368	0.06236	T	0.21383123	0.43773	0.3183397	0.57803	0.22951621	0.45690	0.41117516	0.65356	-3.454	0.15794	T	.	.	0.156	0.34514	B	.;.	.;.	1.936650	0.24595	16.46	0.99387951809272912	0.62202	0.79450	0.39371	D	ALL	0.286864	0.39915	N	-0.470565837871518	0.23049	1.23502	-0.38407193466779	0.25471	1.400964	0.999999999997474	0.74766	0.696267	0.57585	0	0.615948	0.52940	0	0.691665	0.62940	0	0.599892	0.37169	0	.	.	4.61	2.66	0.30672	2.152000	0.41897	0.830000	0.21939	0.549000	0.26987	0.999000	0.42656	0.998000	0.33993	0.086000	0.17578	0.3491:0.6509:0.0:0.0	10.610	0.44603	184	0.92813	.;.	C1orf216	Muscle_Skeletal	AGO4	Testis	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006129	0.005155	0.005450	0.009091	0.000000	0.017857	0.000000	0.007576	0.05263	1297.83	28	chr1	36100236	.	C	T	1297.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.888;DP=566;ExcessHet=0.119;FS=4.661;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=15.09;ReadPosRankSum=0.881;SOR=0.314	GT:AD:DP:GQ:PL	0/1:21,24:45:99:665,0,562	17	0	2	0
chr1	36308160	36308160	C	G	exonic	SH3D21	.	nonsynonymous SNV	SH3D21:NM_024676:exon5:c.C257G:p.P86R,SH3D21:NM_001162530:exon8:c.C590G:p.P197R	.	414	1079	27	2	0	31	0.0141617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.00993666005988	0.0057	0.00199681	0.0052	0.0005	0.0025	0	0.0054	0.0059	0.0055	0.0065	0.0013389	207	154602	rs76695875	0.0046	0.0044	0.0044	0.0047	0.0067	0.0045	0.0044	0.0057	0.0055	0.0004	0.0014	0.0068	2.798e-05	0.0022	0.0067	0.0049	0.0046	0.0062	0.0029	0.0029	0.0033	0.0025	0.0058	0.0027	0.0026	0.0041	0.0037	0.0011	0	0.0018	0.0084	0.0002	0.0015	0.0034	0.0042	0.0033	0.0058	0.003	0.68238	D	0.013	0.63109	D	0.994	0.66517	D	0.854	0.60866	P	0.146926	0.18097	U	0.509628	1	0.81001	D	.	.	.	2.9	0.10101	T	-3.83	0.72120	D	0.582	0.61002	-1.0868	0.06084	T	0.050	0.21182	T	10	0.009480596	0.00214	T	0.009937	0.25878	T	0.156	0.40720	.	.	0.539478914628	0.53600	0.48378686536910653	0.48298	0.405877712896	0.41475	0.518329381943	0.41391	T	.	.	.	-0.344608	0.05075	T	-0.266691	0.48154	T	0.0124233849397936	0.00204	T	0.933007	0.75759	D	.	.	.	.	.	.	.	.	-9.139	0.68587	D	.	.	0.228	0.46049	B	.;.	.;.	4.039143	0.59786	24.1	0.99840426847059882	0.92057	0.78089	0.38476	D	AEFDBI	0.163636	0.28993	N	0.524277252940655	0.68531	5.229837	0.501612177123755	0.68099	5.173562	0.999998091427557	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.731467	0.93227	0	0.727631	0.95156	0	.	.	5.02	5.02	0.66742	1.910000	0.39557	6.002000	0.52504	0.596000	0.33519	0.959000	0.33545	1.000000	0.68203	0.947000	0.49155	0.0:1.0:0.0:0.0	14.188	0.65160	126	0.94940	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003333	0.005319	0.000000	0.004167	0.000000	0.000000	0.000000	0.010638	0.05263	1557.83	34	chr1	36308160	.	C	G	1557.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.878;DP=898;ExcessHet=0.119;FS=0.638;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.13;ReadPosRankSum=0.402;SOR=0.61	GT:AD:DP:GQ:PL	0/1:41,30:71:99:757,0,1106	17	0	2	0
chr1	37689694	37689694	G	T	exonic	C1orf109	.	nonsynonymous SNV	C1orf109:NM_001303030:exon2:c.C373A:p.L125I,C1orf109:NM_001303031:exon2:c.C376A:p.L126I,C1orf109:NM_001350755:exon2:c.C376A:p.L126I,C1orf109:NM_001350756:exon2:c.C373A:p.L125I,C1orf109:NM_001350760:exon2:c.C187A:p.L63I,C1orf109:NM_001350761:exon2:c.C187A:p.L63I,C1orf109:NM_001350764:exon2:c.C187A:p.L63I,C1orf109:NM_001350769:exon2:c.C187A:p.L63I,C1orf109:NM_001350770:exon2:c.C187A:p.L63I,C1orf109:NM_001350771:exon2:c.C187A:p.L63I,C1orf109:NM_017850:exon2:c.C187A:p.L63I,C1orf109:NM_001350757:exon3:c.C376A:p.L126I,C1orf109:NM_001350759:exon3:c.C373A:p.L125I,C1orf109:NM_001350766:exon3:c.C187A:p.L63I,C1orf109:NM_001350768:exon3:c.C187A:p.L63I,C1orf109:NM_001350758:exon4:c.C373A:p.L125I,C1orf109:NM_001350762:exon4:c.C187A:p.L63I,C1orf109:NM_001350763:exon4:c.C187A:p.L63I,C1orf109:NM_001350765:exon4:c.C187A:p.L63I,C1orf109:NM_001350767:exon4:c.C187A:p.L63I	.	426	1086	10	0	0	10	0.00458295	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.014531740578	0.0009	0.00199681	0.0020	9.72e-05	0.0004	0	0.0009	0.0012	0.0011	0.0090	0.0017335	268	154602	rs145196420	0.0012	0.0012	0.0009	0.0015	0.0093	0.0012	0.0011	0.0087	0.0085	8.962e-05	0.0004	0.0005	0	0.0005	0.0029	0.0007	0.0012	0.0093	0.0009	0.0009	0.0008	0.0010	0.0087	0.0008	0.0007	0.0066	0.0059	0.0001	0	0.0003	0.0003	0	0.0018	0	0.0009	0.0014	0.0087	0.012	0.54683	D	0.023	0.57104	D	1.0	0.90584	D	0.988	0.77976	D	0.000012	0.62929	N	0.116284	0.994932	0.42476	D	2.89	0.83701	M	.	.	.	-1.43	0.35194	N	0.5	0.53269	0.024	0.82723	D	0.515	0.81850	D	9	0.0071386695	0.00162	T	0.014532	0.34707	T	0.149	0.39377	.	.	0.328222422547	0.32431	0.30546283441545663	0.30459	1.197488769	0.80448	.	.	.	0.103677	0.48692	T	-0.171793	0.24963	T	-0.0122967	0.69534	D	0.0818137000941954	0.10218	T	0.777022	0.40965	T	0.27409002	0.50476	0.1920946	0.42704	0.27409002	0.50475	0.1920946	0.42703	-4.661	0.32929	T	.	.	0.204	0.48968	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.857460	0.79449	27.1	0.99190539962035773	0.54965	0.89046	0.49281	D	ALL	0.542961	0.55848	D	0.54221507741215	0.69608	5.381381	0.429792933178142	0.63429	4.576486	1.0	0.98316	0.660085	0.49399	0	0.516746	0.08562	0	0.662677	0.59975	0	0.665054	0.64577	0	.	.	5.96	5.96	0.96695	4.938000	0.63220	11.872000	0.98601	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.333000	0.25271	0.0:0.0:1.0:0.0	19.193	0.93663	880	0.29376	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.015152	0.001359	0.002924	0.000000	0.000000	0.000000	0.007576	0.02632	756.33	42	chr1	37689694	.	G	T	756.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.029;DP=724;ExcessHet=0;FS=1.925;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.95;ReadPosRankSum=-2.923;SOR=0.976	GT:AD:DP:GQ:PL	0/1:46,30:76:99:770,0,1272	18	0	1	0
chr1	38018559	38018559	G	C	exonic	UTP11	.	nonsynonymous SNV	UTP11:NM_016037:exon4:c.G324C:p.K108N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.490	0.0167503973626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0022	0.0007	0.0006	0.0007	0.0006	0.0006	0.0007	0.0007	0.0006	4.502e-05	0.0002	5.069e-05	0	0.0002	0.0007	0.0005	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.011	0.64786	D	0.999	0.77913	D	0.972	0.72692	D	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	3.19	0.88972	M	.	.	.	-4.29	0.76414	D	0.835	0.83066	-0.2270	0.76966	T	0.449	0.78378	T	9	0.83418137	0.82576	D	0.01675	0.38152	T	0.490	0.77720	0.658	0.79585	0.617871938043	0.61477	0.7476237047205977	0.74708	0.921248380214	0.71459	0.757096290588	0.75498	T	0.412309	0.76651	T	0.0450001	0.57697	T	-0.173137	0.57156	T	0.995210707187653	0.87030	D	0.915408	0.69775	D	0.9537454	0.96647	0.87148213	0.92969	0.9537454	0.96648	0.87148213	0.92969	-9.692	0.72047	D	.	.	0.956	0.87520	P	.	.	3.385722	0.46848	22.4	0.99798773293668863	0.88372	0.86532	0.45832	D	AEFBI	0.315619	0.42014	N	0.307375534586297	0.56526	3.817	0.217027884145324	0.50791	3.267573	0.186501081710576	0.17944	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.07	2.22	0.27116	0.341000	0.19652	2.649000	0.33803	-0.102000	0.15922	0.995000	0.38783	1.000000	0.68203	0.994000	0.71098	0.729:0.0:0.271:0.0	9.297	0.36983	409	0.82198	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.06667	532.47	67	chr1	38018559	.	G	C	532.47	.	AC=2;AF=0.067;AN=30;BaseQRankSum=-0.46;DP=1141;ExcessHet=0.119;FS=189.283;InbreedingCoeff=-0.1256;MLEAC=2;MLEAF=0.067;MQ=60;MQRankSum=0;QD=2.51;ReadPosRankSum=2.31;SOR=7.7	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:56,23:79:99:0|1:38018559_G_C:506,0,2109:38018559	13	0	2	4
chr1	38018561	38018564	GGGT	-	exonic	UTP11	.	frameshift deletion	UTP11:NM_016037:exon4:c.326_329del:p.R109Mfs*10	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.578e-05	6.777e-05	2.184e-05	9.651e-06	3e-05	1.051e-05	8.78e-06	1.217e-05	1.033e-05	3e-05	0	0	0	0	0	1.894e-05	1.66e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	492.29	39	chr1	38018560	.	AGGGT	A	492.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.255;DP=1311;ExcessHet=0;FS=83.496;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.23;ReadPosRankSum=2.03;SOR=6.357	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:56,23:79:99:0|1:38018559_G_C:506,0,2109:38018559	18	0	1	0
chr1	38018564	38018564	-	CCCC	exonic	UTP11	.	frameshift insertion	UTP11:NM_016037:exon4:c.329_330insCCCC:p.A111Pfs*5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	495.29	39	chr1	38018564	.	T	TCCCC	495.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.842;DP=835;ExcessHet=0;FS=85.2;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.35;ReadPosRankSum=2.17;SOR=6.356	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,23:78:99:0|1:38018559_G_C:509,0,2093:38018559	18	0	1	0
chr1	40089411	40089411	G	A	exonic	PPT1	.	nonsynonymous SNV	PPT1:NM_001142604:exon2:c.C226T:p.R76C,PPT1:NM_000310:exon5:c.C535T:p.R179C,PPT1:NM_001363695:exon5:c.C535T:p.R179C	Ceroid lipofuscinosis, neuronal, 1, Autosomal recessive	0	1513	9	0	0	9	0.0029654	0.0012	0.052	YES	201112	Inborn_genetic_diseases|not_specified|not_provided|Neuronal_ceroid_lipofuscinosis_1	MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.476	0.115381275146	.	0.000199681	0.0004	0	8.64e-05	0	0	2.997e-05	0.0011	0.0028	0.0003363	52	154602	rs560471003	0.0002	0.0002	0.0001	0.0003	0.0026	0.0002	0.0002	0.0023	0.0022	8.971e-05	2.236e-05	0	0	0	0.0003	3.331e-05	0.0003	0.0026	9.211e-05	9.194e-05	3.859e-05	0.0001	0.0019	5.534e-05	4.37e-05	0.0010	0.0007	4.824e-05	0	0	0	0	0	0	4.412e-05	0	0.0019	0.105	0.29823	T	0.114	0.36765	T	0.004	0.27501	B	0.013	0.23361	B	0.000044	0.53742	N	0.161600	0.998451	0.48716	D	2.775	0.80997	M	-4.47	0.97583	D	-2.06	0.47175	N	0.401	0.44187	0.445	0.89763	D	0.831	0.94334	D	10	0.034352362	0.01641	T	0.115381	0.79455	D	0.476	0.76816	0.728	0.86198	0.924967611476	0.92420	0.40286737174546733	0.40202	0.169627693308	0.19127	0.321532934904	0.13654	T	0.915705	0.98450	D	-0.169241	0.25350	T	-0.0211165	0.68956	D	0.133909633272528	0.15738	T	0.925307	0.74113	D	0.20373228	0.42461	0.122635044	0.29579	0.22203802	0.44794	0.14668322	0.34740	-7.481	0.63344	T	.	.	0.211	0.46859	B	.;.;.;.;.;.	.;.;.;.;.;.	3.623372	0.51284	23.1	0.98835853143225871	0.47035	0.97596	0.75790	D	AEFGBI	0.741440	0.68537	D	-0.0665121054854407	0.38867	2.283142	0.0182757777617196	0.40565	2.422851	0.80652638986651	0.24279	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.82	2.91	0.32903	4.986000	0.63577	4.352000	0.43091	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.903000	0.43903	0.1733:0.1617:0.6649:0.0	5.764	0.17482	349	0.85513	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.000000	0.02632	1404.33	42	chr1	40089411	.	G	A	1404.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.84;DP=804;ExcessHet=0;FS=3.521;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=-0.313;SOR=1.044	GT:AD:DP:GQ:PL	0/1:54,57:111:99:1418,0,1155	18	0	1	0
chr1	41382210	41382211	CA	-	exonic	FOXO6	.	frameshift deletion	FOXO6:NM_001291281:exon3:c.1009_1010del:p.Q337Gfs*39	.	632	828	31	5	26	67	0.0241603	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	.	.	.	.	.	.	.	0.00073	19	26028	rs373524987	0.0043	0.0026	0.0045	0.0042	0.0067	0.0042	0.0042	0.0046	0.0041	0.0037	0.0031	0.0057	0.0067	0	0.0037	0.0043	0.0050	0.0039	4.089e-05	0.0013	5.307e-05	2.803e-05	4.548e-05	1.768e-05	1.164e-05	1.207e-05	6.35e-06	0	0	0	0	0	0.0004	0	4.548e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	432.58	8	chr1	41382209	.	CCA	C	432.58	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.21;DP=301;ExcessHet=0.7564;FS=23.127;InbreedingCoeff=-0.1385;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.42;ReadPosRankSum=0.21;SOR=5.11	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:3,1:4:33:0|1:41382209_CCA_C:33,0,123:41382209	17	0	2	0
chr1	41382211	41382211	A	0	exonic	FOXO6	.	.	.	.	1155	328	31	5	3	44	0.0588235	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	197.34	19	chr1	41382211	.	A	*	197.34	.	AC=2;AF=0.2;AN=10;BaseQRankSum=1.38;DP=293;ExcessHet=0.5552;FS=21.312;InbreedingCoeff=-0.2235;MLEAC=4;MLEAF=0.4;MQ=60;MQRankSum=0;QD=8.97;ReadPosRankSum=1.38;SOR=4.975	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:3,1:4:33:0|1:41382209_CCA_C:33,0,123:41382209	3	0	2	14
chr1	42556241	42556241	G	T	exonic	CCDC30	.	stopgain	CCDC30:NM_001080850:exon6:c.G511T:p.E171X	.	408	1113	1	0	0	1	0.000449035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016243	0.28027	N	0.374979	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.167	0.17691	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.554516	0.95935	D	0.558747	0.95874	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive;Recessive	High;High;High	7.458782	0.96538	36	0.99597125772115735	0.73983	0.84313	0.43395	D	AEFBI	0.124745	0.24094	N	0.679020026050972	0.78257	6.835416	0.436976582631321	0.63885	4.631412	0.0111538492386209	0.12139	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.65	4.74	0.59717	1.826000	0.38730	3.906000	0.40380	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.450000	0.27895	0.0903:0.0:0.9097:0.0	10.299	0.42820	727	0.54702	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	596.33	34	chr1	42556241	.	G	T	596.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.537;DP=683;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.46;ReadPosRankSum=-1.456;SOR=0.804	GT:AD:DP:GQ:PL	0/1:32,25:57:99:610,0,822	18	0	1	0
chr1	43992321	43992321	A	G	exonic	CCDC24	.	nonsynonymous SNV	CCDC24:NM_001349128:exon2:c.A236G:p.D79G,CCDC24:NM_001349127:exon3:c.A236G:p.D79G,CCDC24:NM_152499:exon3:c.A236G:p.D79G	.	423	1094	5	0	0	5	0.00227998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.174	0.0229091223943	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.006	0.70582	D	0.944	0.53183	P	0.714	0.54635	P	0.000652	0.42656	D	0.148983	0.965659	0.81001	D	2.52	0.73523	M	.	.	.	-5.25	0.84035	D	0.546	0.57263	-0.5797	0.65629	T	0.276	0.64814	T	9	0.43063152	0.57466	T	0.022909	0.45838	T	0.174	0.44019	0.202	0.11659	0.144782658237	0.14088	0.5023864789593879	0.50160	0.0624827852539	0.06950	0.507915735245	0.39931	T	0.161155	0.50530	T	0.0286526	0.55544	T	-0.196619	0.54967	T	0.924184441566467	0.58523	D	0.637636	0.25136	T	0.35819387	0.57698	0.3893189	0.63754	0.35819387	0.57698	0.3893189	0.63754	-3.819	0.21089	T	.	.	0.264	0.49826	B	.	.	3.701432	0.52790	23.3	0.99690208605273711	0.79909	0.73382	0.35896	D	AEFDGBCI	0.488976	0.52707	N	0.308216641920333	0.56570	3.821827	0.249030262972475	0.52594	3.433273	0.999998373415426	0.74766	0.652421	0.48094	0	0.552344	0.17405	0	0.64067	0.45733	0	0.56751	0.32155	0	.	.	5.12	3.97	0.45241	1.308000	0.33133	6.070000	0.53248	0.665000	0.62972	0.208000	0.24400	1.000000	0.68203	0.133000	0.19684	0.6673:0.0:0.0:0.3326	7.862	0.28676	320	0.86992	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1490.33	34	chr1	43992321	.	A	G	1490.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.51;DP=819;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.52;ReadPosRankSum=-0.458;SOR=0.748	GT:AD:DP:GQ:PL	0/1:63,56:119:99:1504,0,1629	18	0	1	0
chr1	43995943	43995943	G	A	exonic	CCDC24	.	nonsynonymous SNV	CCDC24:NM_001349129:exon7:c.G305A:p.R102Q,CCDC24:NM_001349128:exon8:c.G743A:p.R248Q,CCDC24:NM_001349127:exon9:c.G703A:p.G235S,CCDC24:NM_152499:exon9:c.G707A:p.R236Q	.	420	1057	43	2	0	47	0.0217492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	.	0.0005	0.00399361	0.0032	0.0004	0.0003	0.0003	0	0.0010	0.0088	0.0182	0.0027425	424	154602	rs142384645	0.0018	0.0018	0.0012	0.0024	0.0182	0.0017	0.0017	0.0175	0.0172	0.0004	0.0004	0.0010	0.0002	5.62e-05	0.0153	0.0007	0.0025	0.0182	0.0011	0.0011	0.0008	0.0014	0.0172	0.0010	0.0009	0.0142	0.0131	9.621e-05	0	0.0008	0.0023	0.0004	0	0.0204	0.0007	0.0033	0.0172	0.662	0.04671	T	0.429	0.13752	T	0.003	0.11197	B	0.001	0.04355	B	0.320142	0.04069	N	1.550060	1	0.08975	N	-1.1	0.00987	N	.	.	.	0.13	0.05503	N	0.032	0.00825	-1.0559	0.12803	T	0.029	0.12409	T	9	0.001950413	0.00027	T	.	.	.	0.008	0.00669	.	.	0.0954503805726	0.09146	0.07001160870663188	0.06938	0.0444665148545	0.04800	0.235512048006	0.02400	T	6.65E-4	0.00291	T	-0.773633	0.00012	T	-0.869767	0.00744	T	0.000264297947003674	0.00002	T	0.620638	0.23835	T	0.022738144	0.00958	0.025527406	0.00600	0.022738144	0.00958	0.025527406	0.00600	-3.716	0.19555	T	.	.	0.063	0.01555	B	.	.	-0.148397	0.03363	0.598	0.7658612605579761	0.11527	0.01631	0.05259	N	AEFBCI	0.083598	0.16937	N	-1.65262587755734	0.01024	0.04440356	-1.69864411206519	0.01143	0.05141937	0.999789365406696	0.43007	0.634777	0.41761	0	0.588015	0.36545	0	0.643519	0.47002	0	0.567892	0.33627	0	.	.	4.5	-7.55	0.01185	-1.475000	0.02441	-0.405000	0.09385	-0.196000	0.09079	0.000000	0.06391	0.000000	0.08366	0.124000	0.19330	0.1656:0.1152:0.4911:0.228	1.925	0.03114	318	0.87072	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.000000	0.010870	0.029240	0.050000	0.000000	0.009146	0.015152	0.05263	4793.83	190	chr1	43995943	.	G	A	4793.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=4.29;DP=930;ExcessHet=0.119;FS=14.815;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.8;ReadPosRankSum=1.2;SOR=1.302	GT:AD:DP:GQ:PL	0/1:55,79:134:99:2402,0,1357	17	0	2	0
chr1	45568525	45568525	C	T	exonic	AKR1A1	.	nonsynonymous SNV	AKR1A1:NM_153326:exon6:c.C593T:p.A198V,AKR1A1:NM_001202413:exon7:c.C593T:p.A198V,AKR1A1:NM_006066:exon7:c.C593T:p.A198V,AKR1A1:NM_001202414:exon8:c.C593T:p.A198V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.0146534981302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.40319	D	0.116	0.36497	T	0.785	0.44430	P	0.08	0.28873	B	0.000094	0.51296	D	0.202384	0.999868	0.50061	D	1.53	0.38800	L	1.47	0.31987	T	-1.58	0.38151	N	0.533	0.56145	-1.0412	0.16951	T	0.058	0.24204	T	10	0.46083897	0.59274	T	0.014653	0.34905	T	0.112	0.31546	0.446	0.50466	0.639104523021	0.63613	0.556317568097008	0.55558	0.0692720124102	0.07753	0.546603679657	0.45378	T	0.256093	0.62696	T	-0.0778914	0.40056	T	-0.349662	0.39243	T	0.797301232814789	0.46170	D	0.758824	0.38273	T	0.35858336	0.57728	0.2880627	0.54821	0.35858336	0.57728	0.2880627	0.54820	-7.124	0.54933	T	.	.	0.123	0.27161	B	.;.;.	.;.;.	2.794923	0.36749	20.3	0.99687041562039103	0.79641	0.96321	0.68567	D	AEFDBHCI	0.891676	0.82786	D	0.227917672115673	0.52555	3.429032	0.287927149866461	0.54833	3.647302	0.999860024406825	0.44398	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.75	3.76	0.42368	4.816000	0.62333	4.758000	0.44698	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.644000	0.32530	0.1328:0.7395:0.1277:0.0	12.494	0.55256	200	0.92234	NADP-dependent oxidoreductase domain|NADP-dependent oxidoreductase domain;NADP-dependent oxidoreductase domain|NADP-dependent oxidoreductase domain;NADP-dependent oxidoreductase domain|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	.	.	.	.	.	.	.	.	0.02632	864.33	38	chr1	45568525	.	C	T	864.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.106;DP=725;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.68;ReadPosRankSum=-1.823;SOR=0.602	GT:AD:DP:GQ:PL	0/1:38,36:74:99:878,0,1063	18	0	1	0
chr1	46278118	46278118	C	A	exonic	RAD54L	.	nonsynonymous SNV	RAD54L:NM_001370766:exon18:c.C1540A:p.P514T,RAD54L:NM_003579:exon18:c.C2080A:p.P694T,RAD54L:NM_001142548:exon19:c.C2080A:p.P694T	Adenocarcinoma, colonic, somatic (3);Lymphoma, non-Hodgkin, somatic	0	1513	9	0	0	9	0.0029654	.	.	.	2447856	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.272	0.0288458244489	.	.	4.201e-05	0	0	0	0	0	0	0.0003	3.23e-05	5	154602	.	1.574e-05	1.573e-05	6.807e-06	2.476e-05	0.0003	1.048e-05	8.75e-06	0.0002	0.0001	0	0	0	0	0	0	8.993e-07	0	0.0003	0	6.566e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.006	0.61437	D	0.029	0.54541	D	0.013	0.16609	B	0.004	0.10090	B	0.000060	0.53742	D	0.168441	0.999999	0.58761	D	2.405	0.69568	M	-0.87	0.74583	T	-5.09	0.82961	D	0.176	0.18920	-0.3401	0.73841	T	0.395	0.74800	T	10	0.14288548	0.27134	T	0.028846	0.51459	D	0.272	0.58758	0.19	0.10039	0.837877059833	0.83633	0.38956006309667657	0.38871	0.147929018755	0.16687	0.323596417904	0.13966	T	0.492699	0.81655	T	-0.262282	0.12634	T	-0.304008	0.44300	T	0.270507655963563	0.23769	T	0.90421	0.66396	D	0.51673156	0.68071	0.38485014	0.63416	0.51673156	0.68072	0.38485014	0.63416	-8.616	0.65195	D	.	.	0.081	0.08081	B	.;.	.;.	2.398842	0.30815	18.55	0.98467446113376067	0.41814	0.92367	0.55547	D	AEFDBHCI	0.141080	0.26316	N	0.0187865697409218	0.42710	2.578521	0.132570310210368	0.46225	2.871973	0.999807336873412	0.43304	0.67177	0.52595	0	0.702456	0.74545	0	0.697927	0.64325	0	0.636168	0.56350	0	.	.	5.16	4.21	0.48984	0.974000	0.29033	0.681000	0.20681	0.599000	0.40250	0.912000	0.31733	0.343000	0.24433	0.969000	0.54022	0.0:0.8638:0.1362:0.0	17.196	0.86775	101	0.95833	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1549.33	33	chr1	46278118	.	C	A	1549.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.03;DP=777;ExcessHet=0;FS=2.216;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=0.076;SOR=0.521	GT:AD:DP:GQ:PL	0/1:91,54:145:99:1563,0,2608	18	0	1	0
chr1	70953784	70953784	T	A	exonic	PTGER3	.	nonsynonymous SNV	PTGER3:NM_198716:exon3:c.A1083T:p.R361S,PTGER3:NM_198718:exon3:c.A1083T:p.R361S	.	476	1045	1	0	0	1	0.00047824	.	.	.	3588702	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.028	0.00282946185309	.	.	6.668e-05	0	0	0	0	0	0	0.0003	6.5e-06	1	154602	rs761024899	3.571e-05	3.288e-05	4.254e-05	2.879e-05	0.0002	2.722e-05	2.43e-05	2.872e-05	2.515e-05	0	4.486e-05	0	0	0	0.0002	3.864e-05	1.895e-05	5.827e-05	3.943e-05	3.94e-05	2.57e-05	5.38e-05	7.349e-05	1.715e-05	1.129e-05	2.846e-05	1.858e-05	2.414e-05	0	0	0	0	0	0	7.349e-05	0	0	0.822	0.10659	T	0.11	0.37310	T	0.0	0.02946	B	0.0	0.01387	B	0.006750	0.01139	N	3.104910	1	0.08975	N	.	.	.	1.21	0.37230	T	1.03	0.01712	N	0.233	0.26233	-1.0571	0.12491	T	0.012	0.04463	T	10	0.050581157	0.04812	T	0.002829	0.05927	T	0.028	0.06331	0.495	0.58363	0.285775778912	0.28195	0.2875824544131249	0.28671	0.805347081922	0.66429	0.404647171497	0.25715	T	.	.	.	-0.457519	0.01018	T	-0.646662	0.09189	T	0.0223883904985133	0.00953	T	0.343166	0.07474	T	.	.	.	.	.	.	.	.	-3.175	0.12177	T	.	.	0.279	0.51227	B	.;.	.;.	-0.968672	0.00817	0.027	0.75720764065502433	0.11184	0.02019	0.06066	N	AEFI	0.082602	0.16727	N	-1.55543481494492	0.01503	0.06562808	-1.65946932178018	0.01328	0.05991403	0.308851078896083	0.19266	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.1	-6.2	0.01894	-0.971000	0.03916	-0.781000	0.07454	0.502000	0.22824	0.000000	0.06391	0.000000	0.08366	0.194000	0.21720	0.1332:0.3877:0.2707:0.2084	2.469	0.04281	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	.	.	.	.	.	.	.	.	0.02632	1203.33	34	chr1	70953784	.	T	A	1203.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.43;DP=703;ExcessHet=0;FS=0.935;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.96;ReadPosRankSum=-2.035;SOR=0.563	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:35,32:67:99:0|1:70953784_T_A:1217,0,1373:70953784	18	0	1	0
chr1	70953785	70953785	C	A	exonic	PTGER3	.	nonsynonymous SNV	PTGER3:NM_198716:exon3:c.G1082T:p.R361I,PTGER3:NM_198718:exon3:c.G1082T:p.R361I	.	475	1046	1	0	0	1	0.000477783	.	.	.	3588703	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.050	0.00320837384085	.	.	6.742e-05	0	0	0	0	0	0	0.0003	6.5e-06	1	154602	rs766481804	3.582e-05	3.631e-05	4.266e-05	2.887e-05	0.0002	2.731e-05	2.437e-05	2.879e-05	2.521e-05	0	4.518e-05	0	0	0	0.0002	3.874e-05	1.901e-05	5.863e-05	3.945e-05	3.941e-05	2.571e-05	5.383e-05	7.348e-05	1.716e-05	1.13e-05	2.846e-05	1.858e-05	2.417e-05	0	0	0	0	0	0	7.348e-05	0	0	0.281	0.15458	T	0.5	0.13872	T	0.0	0.02946	B	0.0	0.01387	B	0.006750	0.01139	N	3.104910	1	0.08975	N	.	.	.	1.34	0.34841	T	1.03	0.02007	N	0.334	0.37509	-1.0509	0.14147	T	0.016	0.06473	T	10	0.06693578	0.09255	T	0.003208	0.07057	T	0.050	0.13987	0.473	0.54859	0.476094503173	0.47238	0.2874344708767822	0.28656	1.229058174	0.81290	0.428138196468	0.28954	T	.	.	.	-0.340732	0.05337	T	-0.478906	0.24562	T	0.0457856374177882	0.04744	T	0.440756	0.12177	T	.	.	.	.	.	.	.	.	-2.695	0.07261	T	.	.	0.212	0.44095	B	.;.	.;.	0.272047	0.06494	2.975	0.63610335235741511	0.07269	0.02719	0.07379	N	AEFI	0.042576	0.06624	N	-1.15646201226999	0.05674	0.2592959	-1.18783164921082	0.06112	0.293219	2.96625899259919E-4	0.06406	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.1	-0.011	0.13318	0.196000	0.16979	0.396000	0.17945	0.454000	0.21428	0.001000	0.13787	0.000000	0.08366	0.200000	0.21896	0.2258:0.5128:0.0:0.2614	2.661	0.04720	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	.	.	.	.	.	.	.	.	0.02632	1203.33	34	chr1	70953785	.	C	A	1203.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.37;DP=703;ExcessHet=0;FS=0.935;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.96;ReadPosRankSum=-1.972;SOR=0.563	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:35,32:67:99:0|1:70953784_T_A:1217,0,1373:70953784	18	0	1	0
chr1	74463486	74463486	T	C	exonic	FPGT-TNNI3K;TNNI3K	.	nonsynonymous SNV	TNNI3K:NM_015978:exon21:c.T2057C:p.I686T,FPGT-TNNI3K:NM_001112808:exon23:c.T2360C:p.I787T,FPGT-TNNI3K:NM_001199327:exon23:c.T2360C:p.I787T	.	426	999	89	8	0	105	0.0499287	.	.	.	983822	not_specified|not_provided|TNNI3K-related_disorder|Atrial_conduction_disease	MedGen:CN169374|MedGen:C3661900|.|MONDO:MONDO:0014500,MedGen:C4015285,OMIM:616117,Orphanet:436242	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.612	.	0.0041	0.0209665	0.0169	0.0061	0.0302	0.0441	0.0219	0.0060	0.0220	0.0415	0.015058	2328	154602	rs3737564	0.0085	0.0085	0.0076	0.0095	0.0415	0.0084	0.0084	0.0398	0.0391	0.0061	0.0254	0.0086	0.0415	0.0209	0.0310	0.0034	0.0136	0.0386	0.0098	0.0098	0.0087	0.0109	0.0443	0.0094	0.0092	0.0394	0.0375	0.0060	0	0.0145	0.0101	0.0409	0.0220	0.0170	0.0042	0.0123	0.0443	0.677	0.78490	T	0.002	0.79402	D	0.684	0.41517	P	0.272	0.39956	B	0.000020	0.62929	D	0.116676	0.999935	0.52935	D	2.225	0.63025	M	-1.52	0.81987	D	1.58	0.67477	N	0.512	0.56403	0.007	0.82391	D	0.428	0.77088	T	10	0.008914053	0.00202	T	.	.	.	0.612	0.84826	.	.	.	.	0.6018879179360921	0.73885	0.0332647967301	0.03475	.	.	.	0.54971	0.84731	D	-0.123018	0.32630	T	0.0819324	0.75706	D	0.0199967337014551	0.00700	T	0.890111	0.62362	D	0.66958565	0.76410	0.6346558	0.78674	0.66958565	0.76412	0.6346558	0.78675	-8.973	0.67523	D	0.2936958081766033	0.39050	0.154	0.45883	B	.;.;.	.;.;.	3.562511	0.50129	22.9	0.99666196559818743	0.78266	0.97744	0.76819	D	AEFGBCIJ	0.860783	0.77871	D	0.518357775504104	0.68177	5.181282	0.592106041842497	0.74370	6.125954	0.999999998736648	0.74766	0.554377	0.28877	0	0.624306	0.53593	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.91	5.91	0.95240	7.443000	0.79636	3.381000	0.38003	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	16.002	0.80097	893	0.26510	Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain;.;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain	.	.	.	.	.	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	0.025680	0.015152	0.025815	0.014620	0.000000	0.025862	0.030488	0.041667	0.05263	5680.83	43	chr1	74463486	.	T	C	5680.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.372;DP=1081;ExcessHet=0.119;FS=1.724;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=59.98;MQRankSum=0;QD=12.19;ReadPosRankSum=0.057;SOR=0.579	GT:AD:DP:GQ:PL	0/1:116,126:242:99:3057,0,3168	17	0	2	0
chr1	74706358	74706358	C	T	exonic	CRYZ	.	nonsynonymous SNV	CRYZ:NM_001134759:exon7:c.G517A:p.E173K,CRYZ:NM_001130043:exon8:c.G826A:p.E276K,CRYZ:NM_001889:exon9:c.G928A:p.E310K,CRYZ:NM_001130042:exon10:c.G928A:p.E310K	.	437	1047	36	2	0	40	0.0187441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	.	0.0003	0.00379393	0.0028	9.664e-05	0.0005	0.0006	0	0.0006	0.0011	0.0179	0.002445	378	154602	rs149746412	0.0013	0.0014	0.0007	0.0020	0.0180	0.0013	0.0013	0.0173	0.0170	5.984e-05	0.0003	0.0014	0.0003	5.618e-05	0.0083	0.0002	0.0015	0.0180	0.0008	0.0009	0.0004	0.0013	0.0170	0.0007	0.0007	0.0140	0.0129	0.0001	0	0.0002	0.0009	0.0008	0	0.0068	0.0004	0.0024	0.0170	0.53	0.10909	T	0.701	0.05707	T	0.001	0.07471	B	0.001	0.04355	B	0.001396	0.39175	N	0.254298	0.998912	0.23718	N	0.505	0.13445	N	1.05	0.39990	T	-0.9	0.24244	N	0.097	0.15046	-0.9674	0.37733	T	0.021	0.08963	T	10	0.008682281	0.00197	T	.	.	.	0.036	0.09122	.	.	0.439870908748	0.43606	0.6728538042468933	0.67223	0.112942714915	0.12750	0.30759459734	0.11544	T	0.078006	0.35790	T	-0.543529	0.00319	T	-0.539238	0.18372	T	0.0046506914096409	0.00050	T	0.862114	0.59504	D	0.058851995	0.11889	0.062441003	0.12215	0.058851995	0.11888	0.062441003	0.12215	-7.303	0.58576	T	.	.	0.097	0.16756	B	.;.;.;.	.;.;.;.	1.152326	0.15405	11.83	0.86864422938112251	0.16825	0.43102	0.27024	N	AEFBI	0.073552	0.14716	N	-0.907138259915369	0.10674	0.5112207	-0.818598049181867	0.14045	0.7318515	0.172946808966609	0.17762	0.732398	0.92422	0	0.724815	0.89359	0	0.659464	0.59346	0	0.727631	0.95156	0	.	.	5.04	1.91	0.24841	1.368000	0.33820	1.957000	0.29917	-1.089000	0.01541	0.955000	0.33325	0.985000	0.30750	0.483000	0.28633	0.0:0.3499:0.4219:0.2281	10.032	0.41282	673	0.60677	.;Polyketide synthase, enoylreductase domain;Polyketide synthase, enoylreductase domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005035	0.000000	0.000000	0.011696	0.000000	0.008621	0.006098	0.015152	0.07895	3529.79	37	chr1	74706358	.	C	T	3529.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.264;DP=910;ExcessHet=0.3672;FS=1.343;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=11.46;ReadPosRankSum=0.42;SOR=0.749	GT:AD:DP:GQ:PL	0/1:46,51:97:99:1296,0,1132	16	0	3	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	.	.	.	.	.	.	.	.	0.3667	2786.57	79	chr1	85158757	.	C	G	2786.57	.	AC=11;AF=0.367;AN=30;BaseQRankSum=-0.484;DP=1521;ExcessHet=8.9063;FS=149.533;InbreedingCoeff=-0.52;MLEAC=13;MLEAF=0.433;MQ=60;MQRankSum=0;QD=3.54;ReadPosRankSum=0.467;SOR=10.041	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:54,25:86:99:.:.:368,0,1817:.	4	0	11	4
chr1	86499671	86499671	C	T	exonic	CLCA1	.	stopgain	CLCA1:NM_001285:exon14:c.C2371T:p.R791X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.711e-05	0	0	0	0	1.552e-05	0	6.27e-05	1.29e-05	2	154602	rs753192579	7.694e-06	9.579e-06	2.786e-06	1.264e-05	4.73e-05	4.13e-06	3.02e-06	1.604e-05	9.44e-06	0	2.313e-05	0	0	0	0	4.596e-06	1.689e-05	4.73e-05	1.315e-05	1.314e-05	0	2.691e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.095056	0.20142	N	0.471731	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.697	0.70175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.303389	0.83237	D	0.380789	0.91460	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive	High;High	8.330886	0.97437	37	0.98723033421355921	0.45230	0.35694	0.25361	N	AEFBCI	0.142983	0.26557	N	0.291890934713237	0.55736	3.737806	0.056161806610033	0.42370	2.561598	0.0155549774641724	0.12727	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.59	-4.05	0.03730	0.444000	0.21376	0.020000	0.13575	0.599000	0.40250	0.998000	0.41325	0.000000	0.08366	0.997000	0.79791	0.5308:0.2151:0.0999:0.1542	3.088	0.05904	751	0.51694	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2144.33	33	chr1	86499671	.	C	T	2144.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.37;DP=777;ExcessHet=0;FS=11.893;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.54;ReadPosRankSum=-0.783;SOR=1.616	GT:AD:DP:GQ:PL	0/1:65,73:138:99:2158,0,1619	18	0	1	0
chr1	89191383	89191383	T	C	exonic	GBP4	.	nonsynonymous SNV	GBP4:NM_052941:exon6:c.A794G:p.D265G	.	426	1081	15	0	0	15	0.00689022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.283	0.0432146992987	0.0003	0.000399361	0.0006	0.0002	8.637e-05	0	0	0.0005	0	0.0021	0.0004981	77	154602	rs201411513	0.0002	0.0002	0.0002	0.0003	0.0025	0.0002	0.0002	0.0023	0.0021	2.987e-05	0	0.0023	0	0	0.0007	4.406e-05	0.0003	0.0025	0.0001	0.0001	6.424e-05	0.0002	0.0029	9.736e-05	8.252e-05	0.0018	0.0014	0	0	0	0.0023	0	0	0	0	0	0.0029	0.011	0.55530	D	0.001	0.83351	D	0.02	0.18235	B	0.022	0.19653	B	0.291093	0.14767	N	0.663946	1	0.08975	N	2.205	0.62170	M	-1.12	0.77593	T	-3.51	0.68298	D	0.401	0.44187	-0.6891	0.60950	T	0.234	0.60099	T	10	0.017451495	0.00373	T	0.043215	0.60869	D	0.283	0.60100	.	.	0.814452550499	0.81271	0.5009065058856161	0.50012	0.162938723387	0.18388	0.349341213703	0.17825	T	0.34834	0.71634	T	-0.403078	0.02210	T	-0.357318	0.38363	T	0.0709536894361799	0.08784	T	0.336266	0.07184	T	0.23761347	0.46627	0.20071071	0.44015	0.23761347	0.46627	0.20071071	0.44014	-4.947	0.36259	T	.	.	0.075	0.05711	B	.	.	3.002746	0.40130	21.1	0.97972601104124046	0.37261	0.84173	0.43256	D	AEFHCI	0.376549	0.46065	N	-0.348469870573523	0.27328	1.498502	-0.337186150245	0.26909	1.489528	0.924106724571239	0.26767	0.615465	0.37627	0	0.633656	0.55848	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.28	4.14	0.47821	5.781000	0.68615	2.886000	0.35360	0.650000	0.52971	0.994000	0.38300	0.268000	0.24029	0.001000	0.02609	0.1517:0.0:0.0:0.8483	9.980	0.40980	480	0.77422	Guanylate-binding protein, N-terminal|GB1/RHD3-type guanine nucleotide-binding (G) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.007576	0.02632	2081.33	33	chr1	89191383	.	T	C	2081.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.35;DP=808;ExcessHet=0;FS=1.772;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.9;ReadPosRankSum=0.17;SOR=0.571	GT:AD:DP:GQ:PL	0/1:105,86:191:99:2095,0,2564	18	0	1	0
chr1	99884396	99884396	T	C	exonic	AGL	.	nonsynonymous SNV	AGL:NM_000028:exon19:c.T2491C:p.Y831H,AGL:NM_000642:exon19:c.T2491C:p.Y831H,AGL:NM_000643:exon19:c.T2491C:p.Y831H,AGL:NM_000644:exon19:c.T2491C:p.Y831H,AGL:NM_000646:exon19:c.T2443C:p.Y815H	Glycogen storage disease IIIa, Autosomal recessive;Glycogen storage disease IIIb, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	1488844	Glycogen_storage_disease_type_III	MONDO:MONDO:0009291,MedGen:C0017922,OMIM:232400,Orphanet:366	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.081	0.00911862377621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.401e-06	7.43e-05	1.397e-06	1.405e-06	1.848e-06	2.3e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.848e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.39097	T	0.473	0.12142	T	0.517	0.50474	P	0.109	0.47728	B	0.002293	0.36846	N	0.305907	0.99907	0.46009	D	2.045	0.56016	M	1.57	0.29342	T	-0.65	0.18877	N	0.272	0.33250	-1.1132	0.02809	T	0.049	0.20711	T	10	0.27782464	0.45351	T	0.009119	0.23988	T	0.081	0.23632	0.336	0.32491	0.479744053436	0.47606	0.606268470227836	0.60557	0.11555191635	0.13036	0.707347929478	0.68209	T	0.099441	0.40426	T	-0.125642	0.32204	T	-0.418252	0.31276	T	0.677078485488892	0.39656	D	0.937306	0.76420	D	0.20774648	0.42990	0.14135508	0.33665	0.20774648	0.42990	0.14135508	0.33664	-6.617	0.51183	T	0.20745740101029875	0.27728	0.195	0.49038	B	.;.;.;.;.	.;.;.;.;.	3.365396	0.46485	22.3	0.99621718597315734	0.75473	0.99680	0.98609	D	AEBI	0.860591	0.77848	D	0.379094507883598	0.60291	4.216405	0.481746564574198	0.66782	4.996979	0.999723963512748	0.42220	0.651	0.46895	0	0.708844	0.79440	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	5.8	5.8	0.92081	7.619000	0.82253	7.878000	0.72341	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	16.134	0.81276	855	0.34697	Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3947	4455.13	82	chr1	99884396	.	T	C	4455.13	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-4.146;DP=2242;ExcessHet=20.8569;FS=143.104;InbreedingCoeff=-0.6543;MLEAC=15;MLEAF=0.395;MQ=60;MQRankSum=0;QD=2.39;ReadPosRankSum=1.3;SOR=12.047	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:111,24:135:81:.:.:81,0,3619:.	4	0	15	0
chr1	99884400	99884400	T	C	exonic	AGL	.	nonsynonymous SNV	AGL:NM_000028:exon19:c.T2495C:p.I832T,AGL:NM_000642:exon19:c.T2495C:p.I832T,AGL:NM_000643:exon19:c.T2495C:p.I832T,AGL:NM_000644:exon19:c.T2495C:p.I832T,AGL:NM_000646:exon19:c.T2447C:p.I816T	Glycogen storage disease IIIa, Autosomal recessive;Glycogen storage disease IIIb, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.0122640309764	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.38e-06	6.716e-05	1.374e-06	1.386e-06	9.081e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	9.081e-07	1.668e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.27426	T	0.026	0.56640	D	0.0	0.21573	B	0.001	0.24526	B	0.000055	0.53742	D	0.164392	0.996604	0.43303	D	0.75	0.19020	N	1.65	0.27650	T	-0.36	0.13035	N	0.436	0.50327	-1.0535	0.13440	T	0.016	0.06711	T	10	0.188252	0.34372	T	0.012264	0.30673	T	0.153	0.40148	0.481	0.56142	0.347438807231	0.34349	0.6957915828848406	0.69520	0.0479730424621	0.05229	0.57926928997	0.49983	T	0.024605	0.18561	T	-0.114689	0.33995	T	-0.402519	0.33091	T	0.689807772636414	0.40239	D	0.921208	0.71446	D	0.15030582	0.34224	0.15235546	0.35850	0.15030582	0.34224	0.15235546	0.35849	-7.468	0.57385	T	0.12742211284755814	0.13043	0.196	0.46493	B	.;.;.;.;.	.;.;.;.;.	3.585879	0.50577	23.0	0.98956683015017666	0.49246	0.98949	0.89045	D	AEFBI	0.617707	0.60379	D	-0.259290584713923	0.30734	1.716485	0.0117534508968653	0.40260	2.399848	0.999723963512748	0.42220	0.651	0.46895	0	0.708844	0.79440	0	0.670488	0.60580	0	0.683762	0.67416	0	.	.	5.8	5.8	0.92081	5.882000	0.69458	7.878000	0.72341	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	16.134	0.81276	855	0.34697	Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2105	2128.93	50	chr1	99884400	.	T	C	2128.93	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-3.929;DP=2013;ExcessHet=4.0268;FS=140.901;InbreedingCoeff=-0.2737;MLEAC=8;MLEAF=0.211;MQ=60;MQRankSum=0;QD=2.14;ReadPosRankSum=1.54;SOR=11.374	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:107,34:141:99:.:.:242,0,2448:.	11	0	8	0
chr1	109508616	109508616	G	C	exonic	AMIGO1	.	nonsynonymous SNV	AMIGO1:NM_020703:exon2:c.C297G:p.N99K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00471979587979	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.402e-05	0.0008	2.459e-05	2.345e-05	0.0002	1.744e-05	1.544e-05	2.006e-05	1.747e-05	5.989e-05	0	0	0	0	0.0002	2.799e-05	1.66e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.50676	D	0.096	0.39340	T	0.375	0.34209	B	0.25	0.39011	B	0.023848	0.26367	N	0.283710	0.989351	0.40936	D	-0.805	0.01590	N	4.38	0.02255	T	-0.42	0.14193	N	0.251	0.32481	-0.9074	0.47168	T	0.002	0.00526	T	10	0.13895068	0.26423	T	0.00472	0.11753	T	0.048	0.13305	0.424	0.46857	0.303871581278	0.30001	0.3848348631254194	0.38398	1.20472787136	0.80666	0.608450233936	0.54097	T	0.010575	0.09538	T	-0.290714	0.09565	T	-0.655367	0.08582	T	0.544324159622192	0.34265	D	0.79742	0.44137	T	0.08433104	0.19514	0.09508742	0.22536	0.08433104	0.19513	0.09508742	0.22536	-4.691	0.33295	T	.	.	0.266	0.50527	B	.;.	.;.	1.875938	0.23830	16.17	0.98865697297219557	0.47545	0.82763	0.41947	D	AEFBCI	0.391245	0.46976	N	-0.506877925592794	0.21857	1.163021	-0.39326206815582	0.25196	1.384239	0.905472008325259	0.26205	0.676563	0.55306	0	0.610034	0.51514	0	0.673471	0.61138	0	0.579976	0.35079	0	.	.	4.99	1.09	0.19517	1.118000	0.30860	3.404000	0.38147	0.676000	0.76740	0.809000	0.29839	1.000000	0.68203	1.000000	0.97212	0.304:0.0:0.696:0.0	9.065	0.35621	615	0.66512	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2941	1618.97	110	chr1	109508616	.	G	C	1618.97	.	AC=10;AF=0.294;AN=34;BaseQRankSum=-3.579;DP=1667;ExcessHet=6.9875;FS=173.456;InbreedingCoeff=-0.4061;MLEAC=11;MLEAF=0.324;MQ=60;MQRankSum=0;QD=1.56;ReadPosRankSum=1.36;SOR=9.781	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,22:99:99:0|1:109508616_G_C:227,0,1691:109508616	7	0	10	2
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	70.16	37	chr1	109508617	.	T	C	70.16	.	AC=3;AF=0.083;AN=36;BaseQRankSum=-2.504;DP=1221;ExcessHet=0.3672;FS=66.503;InbreedingCoeff=-0.087;MLEAC=2;MLEAF=0.056;MQ=60;MQRankSum=0;QD=0.25;ReadPosRankSum=1.16;SOR=8.051	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:94,11:105:11:0|1:109508616_G_C:11,0,3736:109508616	15	0	3	1
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	.	.	.	.	.	.	.	.	0.07895	424.07	37	chr1	109508618	.	T	C	424.07	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-3.132;DP=1219;ExcessHet=0.3672;FS=176.537;InbreedingCoeff=-0.0834;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=1.52;ReadPosRankSum=1.2;SOR=7.657	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:94,11:105:11:0|1:109508616_G_C:11,0,3736:109508616	16	0	3	0
chr1	111765752	111765752	G	T	exonic	DDX20	.	nonsynonymous SNV	DDX20:NM_007204:exon11:c.G1328T:p.G443V	.	426	1091	4	1	0	6	0.00274223	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.240	0.0277632525971	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.382e-06	1.368e-06	0	2.782e-06	.	2.3e-07	9e-08	.	.	0	0	0	0	0	0	0	3.347e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.72154	D	0.043	0.66756	D	0.977	0.61118	D	0.58	0.61184	P	0.000068	0.52346	D	0.164208	1	0.81001	D	2.175	0.60977	M	1.3	0.35590	T	-2.82	0.96839	D	0.413	0.45331	-1.0923	0.05159	T	0.045	0.19356	T	10	0.37071455	0.53453	T	0.027763	0.50530	D	0.240	0.54500	0.431	0.48007	0.729403990745	0.72700	0.807453175797473	0.80700	0.427360445182	0.43082	0.440945237875	0.30706	T	0.148133	0.48654	T	-0.0420623	0.45642	T	-0.298196	0.44915	T	0.97036337852478	0.68922	D	0.767723	0.39623	T	0.17658396	0.38579	0.26093292	0.51864	0.17658396	0.38578	0.26093292	0.51863	-5.603	0.42820	T	.	.	0.126	0.50213	B	.;.	.;.	3.397359	0.47066	22.4	0.99489310344372994	0.67347	0.97582	0.75697	D	AEFBI	0.449305	0.50418	N	-0.0185979741559059	0.41013	2.445753	0.0238840528465154	0.40827	2.442773	0.912682418120334	0.26402	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.33	2.46	0.29032	3.658000	0.54221	4.507000	0.43632	-0.113000	0.14837	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.2851:0.0:0.7149:0.0	9.751	0.39640	886	0.28090	Helicase, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1236.33	34	chr1	111765752	.	G	T	1236.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.661;DP=715;ExcessHet=0;FS=0.854;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.08;ReadPosRankSum=-0.717;SOR=0.576	GT:AD:DP:GQ:PL	0/1:35,47:82:99:1250,0,886	18	0	1	0
chr1	112654579	112654579	G	A	exonic	CAPZA1	.	nonsynonymous SNV	CAPZA1:NM_006135:exon5:c.G334A:p.E112K	.	433	1087	2	0	0	2	0.000919118	.	.	.	2308406	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.081	0.00846460602704	7.7e-05	.	0.0002	0	0	0	0	0.0003	0.0011	0	0.0001358	21	154602	rs201525157	0.0001	0.0001	0.0001	0.0001	0.0009	0.0001	0.0001	0.0003	0.0002	0	2.236e-05	0.0052	0	0	0.0009	2.968e-05	0.0003	0	0.0002	0.0002	8.991e-05	0.0002	0.0005	0.0001	8.719e-05	0.0002	0.0002	0	0	0.0005	0.0035	0	0	0	5.879e-05	0	0	0.158	0.23905	T	0.529	0.10138	T	0.049	0.22227	B	0.057	0.26280	B	0.001402	0.39109	N	0.276256	0.990436	0.41159	D	2.085	0.57729	M	.	.	.	-1.58	0.38151	N	0.175	0.18784	-0.9243	0.44957	T	0.127	0.43380	T	9	0.007357806	0.00167	T	0.008465	0.22382	T	0.081	0.23632	.	.	0.355073828461	0.35122	0.26248187972857734	0.26161	0.294120371574	0.31833	0.448904901743	0.31794	T	0.070673	0.34018	T	-0.171871	0.24951	T	-0.401792	0.33176	T	0.0870286164622248	0.10862	T	0.874613	0.58533	D	0.19942418	0.41881	0.19271238	0.42801	0.19942418	0.41881	0.19271238	0.42800	-4.247	0.27427	T	.	.	0.199	0.42259	B	.	.	3.963186	0.58142	23.9	0.99767529556534751	0.85583	0.97886	0.77870	D	AEFGBI	0.858284	0.77578	D	-0.02678534983373	0.40646	2.417329	0.10825096517498	0.44970	2.768607	0.993913765846362	0.33408	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.57	4.57	0.55860	6.760000	0.74735	11.859000	0.98275	0.616000	0.49467	1.000000	0.71638	1.000000	0.68203	0.936000	0.47498	0.0:0.0:1.0:0.0	17.484	0.87576	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	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1815.33	33	chr1	112654579	.	G	A	1815.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.848;DP=750;ExcessHet=0;FS=0.665;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.29;ReadPosRankSum=-0.223;SOR=0.822	GT:AD:DP:GQ:PL	0/1:57,70:127:99:1829,0,1435	18	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	.	.	.	.	.	.	.	.	0.3684	2088.26	101	chr1	112913901	.	C	G	2088.26	.	AC=14;AF=0.368;AN=38;BaseQRankSum=-3.359;DP=1774;ExcessHet=17.0548;FS=69.726;InbreedingCoeff=-0.5826;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=1.57;ReadPosRankSum=1.26;SOR=10.398	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:62,15:77:80:.:.:80,0,1540:.	5	0	14	0
chr1	113900251	113900251	G	A	exonic	AP4B1	.	nonsynonymous SNV	AP4B1:NM_001308312:exon2:c.C263T:p.T88I,AP4B1:NM_001253852:exon5:c.C767T:p.T256I,AP4B1:NM_001253853:exon6:c.C470T:p.T157I,AP4B1:NM_006594:exon6:c.C767T:p.T256I	Spastic paraplegia 47, autosomal recessive, Autosomal recessive	0	1499	23	0	0	23	0.00761337	.	.	.	215180	not_specified|AP4B1-related_disorder|not_provided|Inborn_genetic_diseases|Hereditary_spastic_paraplegia|Hereditary_spastic_paraplegia_47	MedGen:CN169374|.|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|MONDO:MONDO:0013551,MedGen:C3279738,OMIM:614066,Orphanet:280763	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.176	0.0105542815335	0.0011	0.00119808	0.0013	0.0004	0.0020	0	0	0.0015	0	0.0018	0.001313	203	154602	rs143286419	0.0013	0.0013	0.0013	0.0014	0.0342	0.0013	0.0013	0.0303	0.0288	0.0015	0.0029	0.0019	0	1.876e-05	0.0342	0.0011	0.0023	0.0018	0.0014	0.0015	0.0012	0.0017	0.0039	0.0013	0.0012	0.0031	0.0028	0.0008	0	0.0039	0.0003	0	0	0.0204	0.0014	0.0038	0.0025	0.446	0.09101	T	0.518	0.10536	T	0.014	0.16867	B	0.02	0.19048	B	0.000374	0.45194	D	0.259697	0.997088	0.43619	D	-0.19	0.04217	N	2.13	0.19588	T	0.72	0.02518	N	0.781	0.77789	-1.0251	0.22050	T	0.016	0.06329	T	10	0.009812593	0.00220	T	0.010554	0.27217	T	0.176	0.44373	.	.	0.480647642424	0.47694	0.22572069538325795	0.22487	0.135383223776	0.15262	0.529147326946	0.42913	T	0.061945	0.34700	T	-0.438873	0.01313	T	-0.407802	0.32480	T	0.0253416822341745	0.01318	T	0.918208	0.72634	D	0.18973304	0.40527	0.16205072	0.37662	0.18973304	0.40527	0.16205072	0.37661	-10.398	0.76259	D	0.2050978328686585	0.27353	0.28	0.52841	B	.;.;.;.;.;.	.;.;.;.;.;.	3.086434	0.41541	21.4	0.89591819392506655	0.18929	0.92439	0.55715	D	AEFDBI	0.635662	0.61510	D	-0.186115556344549	0.33712	1.915728	0.0515450848008477	0.42146	2.544233	0.999999897504337	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.09	5.09	0.68647	5.954000	0.70017	11.750000	0.95386	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.860	0.92236	574	0.70151	Clathrin/coatomer adaptor, adaptin-like, N-terminal;Clathrin/coatomer adaptor, adaptin-like, N-terminal;Clathrin/coatomer adaptor, adaptin-like, N-terminal;Clathrin/coatomer adaptor, adaptin-like, N-terminal;Clathrin/coatomer adaptor, adaptin-like, N-terminal;Clathrin/coatomer adaptor, adaptin-like, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.026183	0.040404	0.021739	0.049708	0.000000	0.060345	0.018293	0.000000	0.02632	1517.33	33	chr1	113900251	.	G	A	1517.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.54;DP=750;ExcessHet=0;FS=2.313;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.14;ReadPosRankSum=-0.57;SOR=0.942	GT:AD:DP:GQ:PL	0/1:70,55:125:99:1531,0,1880	18	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	.	.	.	.	.	.	.	.	0.4211	6987.05	189	chr1	114732648	.	C	G	6987.05	.	AC=16;AF=0.421;AN=38;BaseQRankSum=-2.206;DP=2914;ExcessHet=25.4433;FS=278.375;InbreedingCoeff=-0.7273;MLEAC=16;MLEAF=0.421;MQ=60;MQRankSum=0;QD=3.01;ReadPosRankSum=1.01;SOR=12.498	GT:AD:DP:GQ:PL	0/1:72,55:137:99:463,0,955	3	0	16	0
chr1	119140608	119140608	A	C	exonic	WARS2	.	nonsynonymous SNV	WARS2:NM_001378228:exon1:c.T37G:p.W13G,WARS2:NM_001378229:exon1:c.T37G:p.W13G,WARS2:NM_001378231:exon1:c.T37G:p.W13G,WARS2:NM_015836:exon1:c.T37G:p.W13G,WARS2:NM_201263:exon1:c.T37G:p.W13G	.	423	1084	15	0	0	15	0.00687128	.	.	YES	434543	not_provided|Parkinsonism-dystonia_3,_childhood-onset|Inborn_genetic_diseases|WARS2-related_disorder|Neurodevelopmental_disorder,_mitochondrial,_with_abnormal_movements_and_lactic_acidosis,_with_or_without_seizures|Neurodevelopmental_disorder	MedGen:C3661900|MONDO:MONDO:0030676,MedGen:C5676913,OMIM:619738|MeSH:D030342,MedGen:C0950123|.|MONDO:MONDO:0060578,MedGen:C4540192,OMIM:617710,Orphanet:572798|MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.121	0.00555365232878	0.0027	0.00199681	0.0034	0.0006	0.0044	0	0.0006	0.0044	0.0011	0.0034	0.0033441	517	154602	rs139548132	0.0036	0.0036	0.0036	0.0037	0.0078	0.0036	0.0035	0.0060	0.0054	0.0005	0.0042	0.0012	0	0.0009	0.0078	0.0040	0.0040	0.0037	0.0031	0.0031	0.0032	0.0030	0.0049	0.0029	0.0028	0.0045	0.0043	0.0008	0.0044	0.0042	0.0023	0	0.0005	0.0068	0.0049	0.0047	0.0039	0.081	0.36113	T	0.016	0.60972	D	0.001	0.07471	B	0.001	0.04355	B	0.097744	0.20013	N	0.534882	0.96309	0.26039	N	2.14	0.59869	M	0.99	0.41750	T	-0.74	0.21860	N	0.427	0.46649	-1.0499	0.14425	T	0.028	0.12190	T	10	0.0043417513	0.00088	T	0.005554	0.14319	T	0.121	0.33580	.	.	0.251679625132	0.24793	0.6198794439575772	0.61920	0.740897167152	0.63259	0.338066577911	0.16147	T	0.114069	0.43160	T	-0.450553	0.01121	T	-0.417353	0.31380	T	0.0366873790085819	0.03100	T	0.632737	0.24712	T	0.1685499	0.37319	0.098846555	0.23579	0.07218971	0.16040	0.108971946	0.26256	-4.802	0.34615	T	.	.	0.109	0.21541	B	.;.	.;.	1.890003	0.24007	16.23	0.89472259208166782	0.18826	0.11826	0.16886	N	ALL	0.118447	0.23160	N	-0.553494044451047	0.20375	1.073573	-0.457345149565875	0.23340	1.272343	0.999999999999984	0.74766	0.441713	0.08003	0	0.504199	0.08210	0	0.52208	0.10781	0	0.273489	0.05413	2	.	.	6.04	0.718	0.17356	-0.145000	0.10248	2.378000	0.32469	0.756000	0.94297	0.473000	0.26745	1.000000	0.68203	0.865000	0.41091	0.3592:0.1819:0.1071:0.3518	0.681	0.00819	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	0.007049	0.000000	0.006793	0.002924	0.000000	0.000000	0.024390	0.003788	0.07895	3681.77	99	chr1	119140608	.	A	C	3681.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.973;DP=778;ExcessHet=0;FS=0;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=20.12;ReadPosRankSum=-1.525;SOR=0.708	GT:AD:DP:GQ:PL	0/1:45,39:84:99:950,0,1204	17	1	1	0
chr1	145872713	145872713	C	G	exonic	ANKRD35	.	nonsynonymous SNV	ANKRD35:NM_001280799:exon8:c.G1786C:p.A596P,ANKRD35:NM_144698:exon10:c.G2056C:p.A686P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.635e-05	0	1.376e-06	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	0.39575	D	0.122	0.35710	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	0.59037	T	-1.95	0.45222	N	0.526	0.55540	.	.	.	.	.	.	.	0.42498738	0.57114	T	.	.	.	.	.	.	.	.	.	0.8187195895967326	0.81828	.	.	.	.	.	0.082225	0.36779	T	.	.	.	.	.	.	.	.	.	0.812719	0.46458	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.743	0.77826	P	.;.	.;.	3.961182	0.58095	23.9	.	.	.	.	.	.	0.492730	0.52925	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.132000	0.41706	4.040000	0.41416	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	.	.	.	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2895	1581.67	33	chr1	145872713	.	C	G	1581.67	.	AC=11;AF=0.289;AN=38;BaseQRankSum=-3.79;DP=2324;ExcessHet=8.9063;FS=153.011;InbreedingCoeff=-0.4246;MLEAC=11;MLEAF=0.289;MQ=60;MQRankSum=0;QD=1.06;ReadPosRankSum=0.037;SOR=11.864	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:100,29:129:99:.:.:148,0,3169:.	8	0	11	0
chr1	145872714	145872714	C	G	exonic	ANKRD35	.	nonsynonymous SNV	ANKRD35:NM_001280799:exon8:c.G1785C:p.E595D,ANKRD35:NM_144698:exon10:c.G2055C:p.E685D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.069	0.43913	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	0.57419	T	-1.48	0.36189	N	0.138	0.13626	.	.	.	.	.	.	.	0.13870499	0.26377	T	.	.	.	.	.	.	.	.	.	0.4799690801717402	0.47916	.	.	.	.	.	0.054385	0.29709	T	.	.	.	.	.	.	.	.	.	0.768923	0.39853	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	0.42763	B	.;.	.;.	3.406129	0.47225	22.4	.	.	.	.	.	.	0.196541	0.32351	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.344000	0.19703	1.359000	0.25866	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.977000	0.56843	.	.	.	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2632	1091.56	162	chr1	145872714	.	C	G	1091.56	.	AC=10;AF=0.263;AN=38;BaseQRankSum=-4.472;DP=2468;ExcessHet=6.9875;FS=132.372;InbreedingCoeff=-0.388;MLEAC=10;MLEAF=0.263;MQ=60;MQRankSum=0;QD=0.8;ReadPosRankSum=0.29;SOR=11.634	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:100,16:124:75:.:.:75,0,3182:.	9	0	10	0
chr1	145873351	145873351	A	C	exonic	ANKRD35	.	nonsynonymous SNV	ANKRD35:NM_001280799:exon8:c.T1148G:p.V383G,ANKRD35:NM_144698:exon10:c.T1418G:p.V473G	.	424	1070	27	1	0	29	0.0133702	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.0014928455548	.	.	.	.	.	.	.	.	.	.	.	.	.	rs139983363	0.0008	0.0008	0.0007	0.0010	0.0057	0.0008	0.0008	0.0053	0.0051	8.961e-05	0.0011	0	0	0	0.0057	0.0005	0.0012	0.0057	0.0008	0.0008	0.0009	0.0008	0.0056	0.0007	0.0007	0.0040	0.0034	0.0001	0	0.0023	0	0	0	0.0136	0.0008	0.0009	0.0056	0.31	0.14017	T	0.062	0.45318	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.23	0.66652	T	-1.76	0.41618	N	0.054	0.04072	.	.	.	.	.	.	.	0.027429044	0.00890	T	.	.	.	.	.	.	.	.	.	0.5662869157022375	0.56556	.	.	.	.	.	0.00733	0.06742	T	.	.	.	.	.	.	.	.	.	0.454355	0.12956	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.13080	B	.;.	.;.	0.601642	0.09701	6.471	.	.	.	.	.	.	0.067918	0.13374	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.432000	0.21180	1.119000	0.24226	0.754000	0.88378	0.000000	0.06391	0.000000	0.08366	0.048000	0.15020	.	.	.	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	5596.83	35	chr1	145873351	.	A	C	5596.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.546;DP=2374;ExcessHet=0.119;FS=1.21;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.58;ReadPosRankSum=-0.27;SOR=0.775	GT:AD:DP:GQ:PL	0/1:89,128:217:99:3480,0,2198	17	0	2	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	.	.	.	.	.	.	.	.	0.2895	20288.3	149	chr1	149075685	.	C	A	20288.3	.	AC=11;AF=0.289;AN=38;BaseQRankSum=2.68;DP=7243;ExcessHet=8.9063;FS=9.436;InbreedingCoeff=-0.4084;MLEAC=11;MLEAF=0.289;MQ=47.06;MQRankSum=-6.736;QD=3.71;ReadPosRankSum=-1.169;SOR=1.49	GT:AD:DP:GQ:PL	0/1:372,69:441:99:816,0,10262	8	0	11	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	.	.	.	.	.	.	.	.	0.07895	461.79	33	chr1	149476000	.	C	A	461.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=5.29;DP=1346;ExcessHet=0.3672;FS=30.186;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=33.41;MQRankSum=-2.742;QD=0.93;ReadPosRankSum=-3.924;SOR=5.062	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:114,14:128:99:0|1:149475995_C_T:231,0,4703:149475995	16	0	3	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	.	.	.	.	.	.	.	.	0.1053	594.42	33	chr1	149476006	.	G	A	594.42	.	AC=4;AF=0.105;AN=38;BaseQRankSum=4.17;DP=1693;ExcessHet=0.7564;FS=21.221;InbreedingCoeff=-0.1173;MLEAC=4;MLEAF=0.105;MQ=33.16;MQRankSum=-2.731;QD=0.8;ReadPosRankSum=-3.525;SOR=3.548	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:119,14:133:99:0|1:149475995_C_T:216,0,4822:149475995	15	0	4	0
chr1	150553794	150553794	C	T	exonic	ADAMTSL4	.	nonsynonymous SNV	ADAMTSL4:NM_001288607:exon6:c.C803T:p.S268F,ADAMTSL4:NM_001288608:exon6:c.C803T:p.S268F,ADAMTSL4:NM_001378596:exon6:c.C803T:p.S268F,ADAMTSL4:NM_019032:exon6:c.C803T:p.S268F,ADAMTSL4:NM_025008:exon6:c.C803T:p.S268F	Ectopia lentis et pupillae, Autosomal recessive;Ectopia lentis, isolated, autosomal recessive, Autosomal recessive	0	1500	22	0	0	22	0.00727995	.	.	.	718192	Ectopia_lentis_2,_isolated,_autosomal_recessive|not_provided|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	.	.	.	.	.	.	.	.	0.029	.	0.0089	0.00339457	0.0085	0.0025	0.0046	0	0.0129	0.0119	0.01	0.0039	0.0084152	1301	154602	rs41317517	0.0099	0.0099	0.0101	0.0096	0.0111	0.0097	0.0097	0.0104	0.0103	0.0017	0.0068	0.0257	0	0.0113	0.0111	0.0105	0.0103	0.0044	0.0080	0.0080	0.0083	0.0076	0.0110	0.0076	0.0074	0.0100	0.0097	0.0023	0	0.0110	0.0276	0.0002	0.0082	0.0034	0.0106	0.0118	0.0035	0.082	0.33418	T	0.045	0.49390	D	0.002	0.12996	B	0.002	0.10090	B	.	.	.	.	1	0.08975	N	0.895	0.22405	L	-0.08	0.63911	T	-1.29	0.32387	N	0.197	0.21969	-0.9891	0.32828	T	0.064	0.26597	T	9	0.0032356381	0.00055	T	.	.	.	0.029	0.06676	.	.	0.613844073566	0.61072	0.4680251590189548	0.46721	0.133370945786	0.15016	0.353369951248	0.18417	T	0.004774	0.04184	T	-0.534227	0.00363	T	-0.529125	0.19374	T	0.00176258760224284	0.00018	T	0.586841	0.21439	T	0.052740633	0.09880	0.056939285	0.10265	0.049416497	0.08769	0.056939285	0.10264	-5.246	0.39406	T	0.2651501739486481	0.35751	0.080	0.20196	B	.;.;.;.	.;.;.;.	0.611437	0.09797	6.564	0.67427839698071568	0.08351	0.05423	0.11295	N	AEFDGBCI	0.042159	0.06505	N	-0.952574164664582	0.09635	0.4568694	-0.99449241703676	0.09908	0.4957493	0.99999957220898	0.74766	0.660377	0.49826	0	0.550933	0.16991	0	0.696353	0.63694	0	0.664235	0.64389	0	.	.	4.73	0.378	0.15435	0.247000	0.17953	0.344000	0.17410	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.0:0.5416:0.0:0.4584	7.329	0.25745	114	0.95383	.;.;.;.	.	.	.	.	rs41317517	Likely benign	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	0.010574	0.015152	0.013587	0.014620	0.000000	0.000000	0.009146	0.000000	0.05263	3713.83	41	chr1	150553794	.	C	T	3713.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.71;DP=1340;ExcessHet=0.119;FS=3.32;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.7;ReadPosRankSum=0.936;SOR=0.544	GT:AD:DP:GQ:PL	0/1:65,73:138:99:1986,0,1683	17	0	2	0
chr1	151763118	151763118	T	A	exonic	MRPL9	.	nonsynonymous SNV	MRPL9:NM_001300733:exon2:c.A182T:p.K61M,MRPL9:NM_031420:exon2:c.A182T:p.K61M	.	417	1100	5	0	0	5	0.00226757	.	.	.	3450396	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.167	0.0130243449479	0.0002	.	5.869e-05	0	0.0002	0	0	4.583e-05	0	0.0001	4.53e-05	7	154602	rs149861640	6.158e-05	6.156e-05	5.037e-05	7.289e-05	0.0014	5.095e-05	4.716e-05	0.0007	0.0005	0	0.0001	0	0	0	0.0014	4.857e-05	0.0001	0.0002	5.259e-05	5.254e-05	6.426e-05	4.037e-05	0.0002	2.558e-05	1.831e-05	4.766e-05	3.34e-05	0	0	0	0	0	0	0	0.0001	0	0.0002	0.015	0.52492	D	0.026	0.56640	D	0.974	0.57829	D	0.711	0.54536	P	0.003062	0.35480	N	0.270317	0.998969	0.81001	D	1.445	0.36358	L	1.35	0.34841	T	-1.87	0.43717	N	0.443	0.48227	-0.9758	0.35948	T	0.104	0.38243	T	10	0.3513127	0.51984	T	0.013024	0.32090	T	0.167	0.42761	.	.	0.442875378763	0.43908	0.6351475000353227	0.63448	1.55586283606	0.87969	0.500524759293	0.38901	T	0.044378	0.26799	T	-0.227764	0.16946	T	-0.309898	0.43669	T	0.457038789987564	0.31056	T	0.870713	0.57812	D	0.5449872	0.69676	0.45416573	0.68260	0.5449872	0.69677	0.45416573	0.68260	-6.456	0.49945	T	.	.	0.235	0.58750	B	.;.	.;.	4.816658	0.78413	26.9	0.99509206736800704	0.68499	0.78871	0.38980	D	ALL	0.677626	0.64226	D	0.550405242453032	0.70108	5.453163	0.540959818411614	0.70769	5.554363	0.999999999999996	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.504199	0.09095	0	0.56214	0.19341	0	.	.	4.84	4.84	0.62125	4.712000	0.61578	4.920000	0.46033	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	10.766	0.45494	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	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.009146	0.000000	0.02632	920.33	33	chr1	151763118	.	T	A	920.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.962;DP=729;ExcessHet=0;FS=0.867;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.65;ReadPosRankSum=1.29;SOR=0.518	GT:AD:DP:GQ:PL	0/1:46,33:79:99:934,0,1224	18	0	1	0
chr1	152214827	152214827	A	0	exonic	HRNR	.	.	.	.	441	898	8	0	175	183	0.00443459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	1290.07	114	chr1	152214827	.	A	*	1290.07	.	AC=10;AF=0.263;AN=38;BaseQRankSum=-2.362;DP=5607;ExcessHet=13.8672;FS=40.595;InbreedingCoeff=-0.5202;MLEAC=10;MLEAF=0.263;MQ=28.03;MQRankSum=2.54;QD=0.28;ReadPosRankSum=-5.241;SOR=10.182	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:334,38:372:99:1|0:152214800_C_T:490,0,13884:152214800	9	0	10	0
chr1	152214830	152214830	C	0	exonic	HRNR	.	.	.	.	441	924	156	0	1	157	0.0778443	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	637.96	114	chr1	152214830	.	C	*	637.96	.	AC=10;AF=0.263;AN=38;BaseQRankSum=0;DP=5543;ExcessHet=11.1788;FS=40.595;InbreedingCoeff=-0.4637;MLEAC=10;MLEAF=0.263;MQ=27.92;MQRankSum=1.43;QD=0.15;ReadPosRankSum=-5.927;SOR=10.041	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:334,38:372:99:1|0:152214800_C_T:490,0,13884:152214800	9	0	10	0
chr1	152215073	152215073	C	T	exonic	HRNR	.	nonsynonymous SNV	HRNR:NM_001009931:exon3:c.G6556A:p.G2186S	.	413	1058	51	0	0	51	0.0235348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	.	0.0002	.	0.0028	0.0009	0.0004	0.0003	0	0.0013	0.0015	0.0132	0.0017076	264	154602	rs369310118	0.0004	0.0016	0.0003	0.0005	0.0035	0.0004	0.0004	0.0031	0.0030	0.0002	6.77e-05	0.0013	2.521e-05	1.89e-05	0.0032	0.0002	0.0005	0.0035	0.0003	0.0006	0.0003	0.0004	0.0047	0.0003	0.0002	0.0032	0.0027	0.0001	0	6.704e-05	0.0003	0	0	0	0.0003	0.0015	0.0047	0.031	0.45039	D	0.29	0.21011	T	0.89	0.48942	P	0.082	0.29098	B	.	.	.	.	1	0.08975	N	1.955	0.52871	M	4.46	0.02102	T	-0.75	0.21003	N	0.217	0.24260	-0.8940	0.48577	T	0.002	0.00526	T	9	0.006400287	0.00145	T	.	.	.	0.079	0.23065	.	.	0.337868961071	0.33390	0.023821135414630563	0.02333	.	.	0.574209809303	0.49272	T	0.016079	0.13364	T	-0.629641	0.00096	T	-0.674462	0.07325	T	0.00560276802564981	0.00061	T	0.332567	0.07018	T	0.04420956	0.07027	0.047306728	0.06787	0.04420956	0.07027	0.047306728	0.06786	-9.429	0.70417	D	.	.	0.117	0.23848	B	.	.	0.827833	0.11993	8.550	0.82080008091088474	0.14008	0.00254	0.01397	N	AEFBI	0.034004	0.04137	N	-0.901208047052108	0.10814	0.5186456	-1.13080107986528	0.07117	0.3450171	1.00382679385416E-4	0.04910	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.41	-3.96	0.03833	-1.323000	0.02800	.	.	0.591000	0.32079	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.3675:0.1449:0.4876	5.364	0.15408	568	0.70638	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005870	0.000000	0.001359	0.016667	0.000000	0.008621	0.009259	0.015385	0.05263	4329.83	652	chr1	152215073	.	C	T	4329.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=4.28;DP=5863;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=30.8;MQRankSum=1.88;QD=2.91;ReadPosRankSum=2.43;SOR=0.791	GT:AD:DP:GQ:PL	0/1:702,135:837:99:1399,0,21822	17	0	2	0
chr1	152215888	152215888	C	T	exonic	HRNR	.	nonsynonymous SNV	HRNR:NM_001009931:exon3:c.G5741A:p.G1914E	.	354	1166	2	0	0	2	0.000856898	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.00626681732975	.	.	1.654e-05	0	0	0	0	0	0	0.0001	3.84e-05	1	26028	rs762489812	0	9.585e-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	0.152	0.24468	T	0.009	0.66756	D	0.994	0.66517	D	0.755	0.56206	P	.	.	.	.	1	0.08975	N	1.475	0.37068	L	4.75	0.01589	T	-1.65	0.39503	N	0.175	0.18784	-0.8376	0.52806	T	0.004	0.01365	T	9	0.2000534	0.36037	T	0.006267	0.16464	T	0.061	0.17616	0.33	0.31519	0.50024110626	0.49660	0.009804769972358504	0.00942	.	.	0.588122785091	0.51229	T	0.019959	0.15803	T	-0.239242	0.15447	T	-0.581431	0.14417	T	0.085346611388814	0.10656	T	0.230077	0.03096	T	0.047483604	0.08124	0.09568864	0.22706	0.047483604	0.08124	0.09568864	0.22705	-9.825	0.72857	D	.	.	0.207	0.43421	B	.	.	0.561956	0.09303	6.086	0.631231849483748	0.07141	0.05763	0.11694	N	AEFDBI	0.047846	0.08101	N	-0.617992606498837	0.18404	0.9552156	-0.809714962409545	0.14261	0.7442199	1.17919571328828E-4	0.05269	0.553676	0.25195	0	0.55458	0.17659	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	3.87	1.74	0.23636	0.380000	0.20331	.	.	0.499000	0.22661	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.5086:0.4914:0.0	10.795	0.45657	568	0.70638	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2641.33	118	chr1	152215888	.	C	T	2641.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.56;DP=21700;ExcessHet=0;FS=2.83;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=47.26;MQRankSum=-6.121;QD=1.15;ReadPosRankSum=1.88;SOR=1.075	GT:AD:DP:GQ:PL	0/1:1999,303:2302:99:2655,0,54275	18	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	0.02632	6005.33	408	chr1	152218574	.	C	T	6005.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.7;DP=4558;ExcessHet=0;FS=0.521;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.67;MQRankSum=1.73;QD=13.81;ReadPosRankSum=2.9;SOR=0.634	GT:AD:DP:GQ:PL	0/1:220,215:435:99:6019,0,5691	18	0	1	0
chr1	153563811	153563811	G	A	exonic	S100A2	.	stopgain	S100A2:NM_001366406:exon1:c.C67T:p.Q23X,S100A2:NM_005978:exon2:c.C67T:p.Q23X	.	428	1091	3	0	0	3	0.001373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	0.0001	0	0	0	0	0.0001	0	0.0002	0.0001035	16	154602	rs532172691	9.782e-05	9.782e-05	8.44e-05	0.0001	0.0016	8.443e-05	7.921e-05	0.0008	0.0006	5.974e-05	0.0007	0	0	0.0003	0.0016	5.306e-05	0.0002	0.0002	0.0003	0.0003	0.0002	0.0004	0.0027	0.0002	0.0002	0.0021	0.0019	0	0	0.0027	0	0	9.413e-05	0	5.881e-05	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	0.330627	0.14120	N	0.656229	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.776	0.77319	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0670805	0.41793	T	0.0516059	0.73689	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive;Recessive;Recessive;.	High;High;High;High;.	4.955604	0.81901	27.7	0.99277513730859002	0.57799	0.06675	0.12694	N	AEFDBCI	0.069939	0.13863	N	-0.0776897694623992	0.38371	2.246434	-0.433646352386349	0.24017	1.312832	0.999985075026472	0.51787	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.21	-3.4	0.04549	0.143000	0.15936	-0.703000	0.07785	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.852000	0.40310	0.0817:0.0:0.3138:0.6045	8.793	0.34019	789	0.46346	.;.;.;.;S100/CaBP-9k-type, calcium binding, subdomain|S100/CaBP-9k-type, calcium binding, subdomain|S-100	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1875.33	37	chr1	153563811	.	G	A	1875.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.536;DP=799;ExcessHet=0;FS=2.982;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=0.857;SOR=0.461	GT:AD:DP:GQ:PL	0/1:69,76:145:99:1889,0,1643	18	0	1	0
chr1	153760378	153760378	C	G	exonic	INTS3	.	nonsynonymous SNV	INTS3:NM_023015:exon12:c.C1305G:p.D435E,INTS3:NM_001324475:exon13:c.C1305G:p.D435E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.557	0.0101042060593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.109e-06	3.763e-05	5.452e-06	2.753e-06	5.404e-06	1.48e-06	9.7e-07	1.94e-06	1.28e-06	0	0	0	0	0	0	5.404e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.096	0.39340	T	0.99	0.63424	D	0.971	0.76916	D	0.000000	0.84330	D	0.000000	0.999453	0.47118	D	.	.	.	.	.	.	-3.57	0.68999	D	0.889	0.88798	-0.8647	0.50922	T	0.172	0.51484	T	9	0.8319566	0.82357	D	0.010104	0.26235	T	0.557	0.81774	.	.	0.721551216883	0.71909	0.6563577712550202	0.65571	2.15008403777	0.95306	0.843462109566	0.88622	D	.	.	.	0.223	0.76021	D	0.0819729	0.75709	D	0.98498809337616	0.76116	D	.	.	.	.	.	.	.	.	.	.	.	-3.456	0.16153	T	.	.	0.998	0.97160	P	.;.;.	.;.;.	3.646224	0.51727	23.1	0.99633933635678729	0.76203	0.93226	0.57654	D	AEFBI	0.403545	0.47719	N	0.0683850253580956	0.44993	2.763348	0.0345004263229141	0.41329	2.481153	0.733851878871199	0.23096	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.13	2.28	0.27583	0.899000	0.28049	2.750000	0.34528	-0.171000	0.11205	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.7504:0.0:0.2496	8.751	0.33774	123	0.95099	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2941	2195.52	180	chr1	153760378	.	C	G	2195.52	.	AC=10;AF=0.294;AN=34;BaseQRankSum=-3.183;DP=2532;ExcessHet=6.9875;FS=288.096;InbreedingCoeff=-0.4251;MLEAC=11;MLEAF=0.324;MQ=60;MQRankSum=0;QD=1.51;ReadPosRankSum=0.865;SOR=12.942	GT:AD:DP:GQ:PL	0/1:111,55:176:81:81,0,1530	7	0	10	2
chr1	153779973	153779973	G	A	exonic	SLC27A3	.	nonsynonymous SNV	SLC27A3:NM_001317929:exon10:c.G1918A:p.A640T,SLC27A3:NM_024330:exon10:c.G2023A:p.A675T	.	424	1085	13	0	0	13	0.00595511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	0.00717348276086	0.0010	0.000798722	0.0014	0.0007	0.0003	0.0001	0	0.0013	0.0037	0.0041	0.0011125	172	154602	rs35517522	0.0007	0.0007	0.0006	0.0008	0.0097	0.0007	0.0007	0.0077	0.0069	0.0008	0.0003	0.0064	2.52e-05	0	0.0097	0.0004	0.0013	0.0029	0.0007	0.0007	0.0007	0.0007	0.0021	0.0006	0.0006	0.0011	0.0009	0.0006	0	0.0005	0.0052	0.0002	0	0.0136	0.0005	0.0024	0.0021	0.194	0.34621	T	0.167	0.30729	T	.	.	.	.	.	.	0.045485	0.23532	N	0.431406	0.999991	0.08975	N	.	.	.	0.36	0.57880	T	-1.11	0.28703	N	0.194	0.21319	-1.0811	0.07137	T	0.044	0.18989	T	10	0.0065431893	0.00148	T	0.007173	0.19006	T	0.175	0.44197	.	.	0.229924730088	0.22615	0.3821649211926388	0.38131	0.244494998227	0.26952	0.391278922558	0.23850	T	0.033931	0.23116	T	-0.35473	0.04437	T	-0.285058	0.46283	T	0.0101353498206119	0.00137	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.09578	B	.;.;.	.;.;.	1.506426	0.19358	14.22	0.96584522577333298	0.30347	0.16455	0.19397	N	AEFBI	0.408782	0.48032	N	-0.628304427684883	0.18098	0.9368583	-0.6814737561286	0.17424	0.9264406	0.999904181925483	0.45458	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.526803	0.08958	0	.	.	4.36	2.34	0.28071	1.557000	0.35906	5.739000	0.49563	-0.182000	0.10109	0.006000	0.17386	1.000000	0.68203	0.003000	0.05239	0.1078:0.0:0.6866:0.2057	5.003	0.13617	72	0.96948	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006552	0.000000	0.006793	0.011696	0.000000	0.008621	0.009202	0.007576	0.02632	2064.33	35	chr1	153779973	.	G	A	2064.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.324;DP=812;ExcessHet=0;FS=2.113;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.85;ReadPosRankSum=0.34;SOR=0.911	GT:AD:DP:GQ:PL	0/1:63,86:149:99:2078,0,1464	18	0	1	0
chr1	156011822	156011822	G	C	exonic	SSR2	.	nonsynonymous SNV	SSR2:NM_003145:exon5:c.C429G:p.F143L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	0.18042830021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.568e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.91255	D	0.031	0.55341	D	0.984	0.60733	D	0.87	0.61806	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.79	0.81396	M	.	.	.	-5.39	0.85994	D	0.84	0.83576	-0.2573	0.76161	T	0.378	0.73580	T	9	0.9662193	0.96110	D	0.180428	0.85489	D	0.551	0.81427	0.936	0.99075	0.416446257289	0.41261	0.8283436009707257	0.82792	1.40670516952	0.85333	0.792496502399	0.80822	T	0.534141	0.83931	D	0.416006	0.90809	D	0.359788	0.90695	D	0.99421751499176	0.85377	D	0.939106	0.80601	D	0.76359487	0.81666	0.72925085	0.84003	0.76359487	0.81667	0.72925085	0.84004	-10.5	0.76847	D	.	.	1.000	0.99795	P	.;.;.	.;.;.	5.067605	0.84496	28.3	0.91990689601245867	0.21324	0.98329	0.81685	D	AEFGBI	0.901337	0.84791	D	0.542252554756067	0.69612	5.381701	0.583687799372267	0.73772	6.02523	0.999999999487927	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.55	5.55	0.83298	4.832000	0.62449	6.328000	0.55455	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	17.055	0.86406	196	0.92420	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.04545	1562.83	40	chr1	156011822	.	G	C	1562.83	.	AC=1;AF=0.045;AN=22;BaseQRankSum=-1.056;DP=1208;ExcessHet=2.0135;FS=209.49;InbreedingCoeff=-0.3623;MLEAC=1;MLEAF=0.045;MQ=60;MQRankSum=0;QD=3.02;ReadPosRankSum=0.591;SOR=9.657	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:47,18:65:99:0|1:156011822_G_C:244,0,1244:156011822	10	0	1	8
chr1	156651494	156651494	C	T	exonic	BCAN	.	nonsynonymous SNV	BCAN:NM_021948:exon7:c.C1102T:p.P368S,BCAN:NM_198427:exon7:c.C1102T:p.P368S	.	10	1488	22	0	2	24	0.00733823	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00201397073222	0.0011	0.00179712	0.0012	9.829e-05	0.0023	0	0	0.0015	0.0045	0.0007	0.0011125	172	154602	rs147928348	0.0009	0.0009	0.0009	0.0010	0.0059	0.0009	0.0009	0.0044	0.0038	0.0003	0.0016	0.0010	0	0.0002	0.0059	0.0010	0.0011	0.0008	0.0010	0.0010	0.0009	0.0011	0.0015	0.0008	0.0008	0.0012	0.0011	0.0003	0	0.0013	0.0012	0	0.0003	0	0.0015	0.0014	0.0012	0.407	0.31383	T	0.761	0.05470	T	0.013	0.26235	B	0.005	0.32635	B	0.013247	0.28902	N	0.217974	1	0.08975	N	1.745	0.45235	L	2.61	0.13095	T	0.35	0.03761	N	0.051	0.02272	-0.9750	0.36125	T	0.009	0.03448	T	10	0.004115522	0.00081	T	0.002014	0.03642	T	0.026	0.05648	.	.	0.253726318573	0.24972	0.5818805190346956	0.58117	0.0985141093162	0.11135	0.304689288139	0.11104	T	0.081451	0.36601	T	-0.644448	0.00078	T	-0.72856	0.04393	T	0.0114912724502996	0.00173	T	0.562944	0.19809	T	0.02627915	0.01664	0.026089821	0.00681	0.02627915	0.01664	0.026089821	0.00681	-4.805	0.34650	T	.	.	0.074	0.05188	B	.;.	.;.	0.721665	0.10909	7.578	0.80098141787209498	0.13044	0.04892	0.10638	N	AEFDGBCI	0.106578	0.21260	N	-0.779857269607172	0.13836	0.6845232	-0.835444297810683	0.13637	0.7085556	0.997868286997931	0.36124	0.736574	0.97449	0	0.547309	0.14657	0	0.732669	0.93749	0	0.530356	0.10902	0	.	.	2.13	1.2	0.20181	0.397000	0.20608	0.574000	0.19636	-0.266000	0.06809	0.001000	0.13787	0.036000	0.21445	0.212000	0.22240	0.2824:0.5501:0.0:0.1675	2.671	0.04752	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	0.005544	0.010101	0.004076	0.002924	0.000000	0.008621	0.006098	0.000000	0.02632	1170.33	33	chr1	156651494	.	C	T	1170.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.67;DP=693;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.25;ReadPosRankSum=-0.396;SOR=0.599	GT:AD:DP:GQ:PL	0/1:29,43:72:99:1184,0,836	18	0	1	0
chr1	156906700	156906700	C	T	exonic	PEAR1	.	nonsynonymous SNV	PEAR1:NM_001080471:exon6:c.C464T:p.S155L,PEAR1:NM_001353682:exon6:c.C272T:p.S91L,PEAR1:NM_001353683:exon7:c.C272T:p.S91L	.	402	1096	23	1	0	25	0.0112765	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.00650031980143	0.0015	0.000998403	0.0018	9.615e-05	0.0020	0.0001	0.0003	0.0021	0.0033	0.0027	0.0016559	256	154602	rs61744071	0.0015	0.0015	0.0013	0.0016	0.0302	0.0014	0.0014	0.0265	0.0251	0.0004	0.0021	0.0083	0.0001	0.0001	0.0302	0.0011	0.0028	0.0033	0.0014	0.0014	0.0014	0.0013	0.0044	0.0012	0.0011	0.0029	0.0024	0.0002	0	0.0019	0.0101	0	0.0005	0.0102	0.0014	0.0038	0.0044	1.0	0.25255	T	0.479	0.28669	T	0.04	0.21238	B	0.007	0.12992	B	0.037453	0.24401	N	0.296892	0.921522	0.27281	N	1.13	0.28900	L	1.58	0.29085	T	-0.58	0.17417	N	0.187	0.20793	-1.0542	0.13251	T	0.020	0.08360	T	10	0.006139666	0.00138	T	0.006	0.17129	T	0.077	0.22490	.	.	0.229264304666	0.22521	0.469269647403404	0.46845	0.152569649157	0.17211	0.346681594849	0.17432	T	0.004082	0.03492	T	-0.51999	0.00440	T	-0.517372	0.20561	T	0.0282936650746055	0.01731	T	0.776822	0.40920	T	0.16977288	0.37513	0.08238582	0.18798	0.16977288	0.37513	0.08238582	0.18797	-8.155	0.62121	D	.	.	0.084	0.15070	B	.;.;.	.;.;.	2.401364	0.30853	18.56	0.98484486086236189	0.42014	0.19146	0.20546	N	AEFGBI	0.112749	0.22273	N	-0.431160125728035	0.24383	1.316	-0.305742775347298	0.27913	1.552319	0.999997844131104	0.74766	0.722319	0.85440	0	0.59043	0.45803	0	0.602189	0.34648	0	0.735409	0.98432	0	.	.	4.81	4.81	0.61401	-0.614000	0.05699	2.741000	0.34462	0.599000	0.40250	0.000000	0.06391	1.000000	0.68203	0.920000	0.45560	0.0:1.0:0.0:0.0	15.405	0.74596	403	0.82567	Laminin EGF domain|EGF-like domain;.;Laminin EGF domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.026687	0.040404	0.021739	0.058480	0.000000	0.025862	0.024390	0.011364	0.02632	1105.33	39	chr1	156906700	.	C	T	1105.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.62;DP=768;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.05;ReadPosRankSum=3.01;SOR=0.701	GT:AD:DP:GQ:PL	0/1:64,46:110:99:1119,0,1515	18	0	1	0
chr1	158766427	158766427	G	A	exonic	OR6N1	.	nonsynonymous SNV	OR6N1:NM_001005185:exon1:c.C256T:p.L86F	.	423	1064	34	1	0	36	0.0166359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	.	0.0068	0.00359425	0.0090	0.0021	0.0034	0.0001	0.0150	0.0106	0.0077	0.0130	0.0084863	1312	154602	rs857828	0.0092	0.0092	0.0089	0.0094	0.0131	0.0090	0.0090	0.0125	0.0122	0.0012	0.0037	0.0181	0.0008	0.0146	0.0068	0.0092	0.0084	0.0131	0.0071	0.0071	0.0067	0.0076	0.0101	0.0068	0.0066	0.0086	0.0083	0.0022	0.0307	0.0027	0.0164	0	0.0168	0.0102	0.0092	0.0076	0.0101	0.088	0.32296	T	0.046	0.49120	D	0.989	0.62824	D	0.881	0.62579	P	0.000856	0.41440	D	0.000000	0.725006	0.29885	N	1.955	0.52871	M	2.85	0.10578	T	-2.8	0.59226	D	0.217	0.24260	-1.0842	0.06553	T	0.029	0.12234	T	10	0.0044329762	0.00091	T	.	.	.	0.104	0.29647	.	.	0.639181034743	0.63621	0.0798749193464939	0.07922	0.200968445806	0.22491	0.354848116636	0.18633	T	0.006121	0.05559	T	-0.548111	0.00299	T	-0.549069	0.17416	T	0.0269187531766479	0.01533	T	0.117088	0.00899	T	0.21584377	0.44027	0.22670516	0.47656	0.21584377	0.44027	0.22670516	0.47655	-6.688	0.51720	T	.	.	0.122	0.29339	B	.;.	.;.	2.714663	0.35491	19.91	0.99871495332326199	0.94902	0.31820	0.24433	N	AEFBI	0.174362	0.30149	N	0.247374379502351	0.53509	3.519439	0.212976483071852	0.50568	3.247356	5.0494702153726E-4	0.07176	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	-0.672000	0.05345	0.096000	0.14582	-0.120000	0.14102	0.000000	0.06391	0.000000	0.08366	0.228000	0.22680	0.0:0.1556:0.8444:0.0	13.726	0.62240	845	0.36510	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	0.005035	0.000000	0.002717	0.000000	0.050000	0.000000	0.009146	0.015152	0.02632	1855.33	47	chr1	158766427	.	G	A	1855.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.555;DP=982;ExcessHet=0;FS=5.429;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.72;ReadPosRankSum=-0.658;SOR=0.601	GT:AD:DP:GQ:PL	0/1:56,70:126:99:1869,0,1550	18	0	1	0
chr1	160750053	160750053	A	C	exonic	SLAMF7	.	nonsynonymous SNV	SLAMF7:NM_001282590:exon2:c.A288C:p.R96S,SLAMF7:NM_001282591:exon2:c.A288C:p.R96S,SLAMF7:NM_001282593:exon2:c.A288C:p.R96S,SLAMF7:NM_001282594:exon2:c.A288C:p.R96S,SLAMF7:NM_001282595:exon2:c.A207C:p.R69S,SLAMF7:NM_001282596:exon2:c.A288C:p.R96S,SLAMF7:NM_001282592:exon3:c.A609C:p.R203S,SLAMF7:NM_021181:exon3:c.A609C:p.R203S	.	423	1030	67	2	0	71	0.0333177	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	.	0.0036	0.023762	0.0155	0.0039	0.0080	0.0487	0.0168	0.0050	0.0165	0.0527	0.0139325	2154	154602	rs117009784	0.0082	0.0082	0.0068	0.0096	0.0536	0.0081	0.0080	0.0517	0.0511	0.0036	0.0084	0.0132	0.0536	0.0172	0.0290	0.0025	0.0097	0.0529	0.0085	0.0085	0.0070	0.0101	0.0531	0.0081	0.0080	0.0478	0.0457	0.0043	0.0033	0.0095	0.0144	0.0440	0.0163	0.0204	0.0035	0.0076	0.0531	0.823	0.04742	T	0.817	0.03863	T	0.0	0.02946	B	0.0	0.01387	B	0.167060	0.17487	N	0.602456	1	0.19486	N	-2.74	0.00028	N	2.19	0.18724	T	1.94	0.00756	N	0.21	0.23380	-0.9467	0.41532	T	0.003	0.00929	T	10	0.0028574467	0.00046	T	.	.	.	0.031	0.07369	0.566	0.68768	.	.	0.324813258575712	0.32394	0.178383138958	0.20072	0.290989935398	0.09067	T	0.002644	0.43587	T	-0.722179	0.00027	T	-0.768401	0.02821	T	0.00331738300803551	0.00035	T	0.0486951	0.00347	T	0.07594362	0.17144	0.04246686	0.05065	0.07594362	0.17144	0.04246686	0.05065	-0.005	0.00951	T	.	.	0.061	0.11845	B	.;.;.;.;.;.	.;.;.;.;.;.	0.793615	0.11639	8.226	0.29561523863360645	0.01574	0.00351	0.01809	N	AEFDGBHCI	0.043334	0.06838	N	-1.47543214926929	0.02024	0.08897147	-1.36352818858422	0.03648	0.1706476	0.999999749278389	0.74766	0.645754	0.44609	0	0.696144	0.67643	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.16	1.17	0.19998	-0.015000	0.12572	0.912000	0.22635	-0.175000	0.10903	0.169000	0.23921	0.753000	0.26565	0.220000	0.22462	0.314:0.4287:0.0:0.2573	3.261	0.06445	799	0.44747	Immunoglobulin-like domain;.;Immunoglobulin-like domain;Immunoglobulin-like domain;.;.	.	.	.	.	rs117009784	Likely benign	0	0	0	0	0	0	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	0.026316	0.050000	0.017241	0.024390	0.037879	0.02632	1228.33	33	chr1	160750053	.	A	C	1228.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.984;DP=689;ExcessHet=0;FS=2.328;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.06;ReadPosRankSum=1.5;SOR=0.386	GT:AD:DP:GQ:PL	0/1:22,46:68:99:1242,0,527	18	0	1	0
chr1	171536209	171536209	A	G	exonic	PRRC2C	.	nonsynonymous SNV	PRRC2C:NM_015172:exon14:c.A2218G:p.M740V	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.00774379245862	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.053e-06	2.052e-06	1.362e-06	2.751e-06	0.0003	5.5e-07	1.5e-07	6.094e-05	2.522e-05	0	0	0	0	0	0.0003	0	0	1.161e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.32929	T	0.419	0.14158	T	0.021	0.18474	B	0.013	0.16460	B	0.004316	0.33881	N	0.133611	0.998737	0.45356	D	1.79	0.46772	L	2.99	0.09262	T	-1.53	0.38540	N	0.411	0.45142	-1.0638	0.10831	T	0.014	0.05513	T	10	0.1765857	0.32650	T	0.007744	0.20536	T	0.070	0.20419	0.321	0.30064	0.110392049598	0.10638	0.3196012663072115	0.31873	0.190433303082	0.21362	0.679464459419	0.64191	T	0.037957	0.24667	T	-0.147934	0.28637	T	-0.450274	0.27666	T	0.68045699596405	0.39809	D	0.880112	0.61827	D	.	.	.	.	.	.	.	.	-8.329	0.63291	D	.	.	.	.	.	.;.;.	.;.;.	3.444059	0.47929	22.5	0.95885655510110746	0.28087	0.97938	0.78272	D	AEFBI	0.702728	0.65900	D	0.0819453461796388	0.45621	2.815615	0.259820977420382	0.53211	3.491097	0.327497458270122	0.19450	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.81	4.49	0.54177	7.026000	0.76192	5.335000	0.48329	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.9244:0.0:0.0756:0.0	12.404	0.54760	368	0.84463	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2206.33	37	chr1	171536209	.	A	G	2206.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.501;DP=802;ExcessHet=0;FS=2.75;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.83;ReadPosRankSum=0.715;SOR=0.948	GT:AD:DP:GQ:PL	0/1:85,87:172:99:2220,0,2248	18	0	1	0
chr1	175018501	175018501	G	A	exonic	MRPS14	.	stopgain	MRPS14:NM_022100:exon2:c.C121T:p.R41X	.	.	.	.	.	.	.	.	.	.	.	3798907	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	4.126e-05	0	0	0	0	6.005e-05	0.0011	0	4.53e-05	7	154602	rs200414977	8.899e-05	8.893e-05	8.991e-05	8.806e-05	7.376e-05	7.627e-05	7.172e-05	6.06e-05	5.569e-05	2.992e-05	2.258e-05	0.0011	2.522e-05	0	0	7.376e-05	0.0002	2.324e-05	6.577e-05	6.569e-05	0.0001	2.694e-05	8.823e-05	3.52e-05	2.619e-05	3.763e-05	2.576e-05	0	0	0	0.0012	0	0	0	8.823e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.477	0.51226	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.370773	0.88105	D	0.486496	0.94335	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	7.900447	0.96972	36	0.98259234292169007	0.39649	0.82684	0.41878	D	AEFBI	0.268551	0.38502	N	0.0591084477657783	0.44562	2.728037	-0.205313058571359	0.31344	1.773023	0.956295545815882	0.28239	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.67	-4.33	0.03423	1.227000	0.32179	2.784000	0.34753	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.996000	0.76049	0.0663:0.0741:0.2452:0.6144	7.944	0.29137	500	0.76024	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1562.33	34	chr1	175018501	.	G	A	1562.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.09;DP=799;ExcessHet=0;FS=0.601;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.01;ReadPosRankSum=0.374;SOR=0.624	GT:AD:DP:GQ:PL	0/1:91,65:156:99:1576,0,2307	18	0	1	0
chr1	175085490	175085490	G	T	exonic	TNN	.	nonsynonymous SNV	TNN:NM_022093:exon6:c.G1320T:p.R440S	.	427	1036	53	6	0	65	0.0304165	.	.	.	706885	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.084	.	0.0043	0.00858626	0.0097	0.0003	0.0058	0	0.0024	0.0073	0.0228	0.0346	0.0077295	1195	154602	rs6664276	0.0066	0.0067	0.0058	0.0075	0.0296	0.0065	0.0065	0.0286	0.0283	0.0007	0.0057	0.0080	2.523e-05	0.0014	0.0186	0.0054	0.0077	0.0296	0.0055	0.0055	0.0053	0.0057	0.0309	0.0052	0.0051	0.0269	0.0253	0.0008	0.0308	0.0087	0.0081	0	0.0015	0.0204	0.0063	0.0066	0.0309	0.956	0.02116	T	0.829	0.11968	T	0.59	0.39078	P	0.25	0.39011	B	0.005966	0.32369	N	0.336036	0.601732	0.32544	D	1.435	0.35949	L	1.63	0.28002	T	-0.98	0.25986	N	0.381	0.50598	-1.0141	0.25625	T	0.032	0.13635	T	10	0.0054251254	0.00119	T	.	.	.	0.084	0.24469	0.34	0.33141	0.317084106153	0.31322	0.45807528365645644	0.45725	0.186432944156	0.20951	0.327108561993	0.14498	T	0.001212	0.00709	T	-0.504897	0.00536	T	-0.475713	0.24904	T	0.00896777639948186	0.00112	T	0.548745	0.18852	T	0.09944625	0.23469	0.09248311	0.21797	0.09944625	0.23469	0.09248311	0.21796	-4.779	0.34345	T	.	.	0.282	0.52227	B	.;.;.	.;.;.	1.756838	0.22349	15.58	0.37462397471296272	0.02470	0.56796	0.30209	D	AEFBI	0.309139	0.41553	N	-0.725968913115918	0.15295	0.7695202	-0.628736688381513	0.18756	1.003365	0.00126639096779767	0.08390	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.76	2.91	0.32903	0.435000	0.21228	1.463000	0.26696	-0.127000	0.13314	0.382000	0.26022	1.000000	0.68203	0.874000	0.41677	0.1436:0.1333:0.7231:0.0	7.738	0.27988	556	0.71678	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	0.026210	0.000000	0.029891	0.020468	0.000000	0.068966	0.030675	0.026515	0.05263	3475.83	41	chr1	175085490	.	G	T	3475.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.73;DP=993;ExcessHet=0.119;FS=11.536;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.1;ReadPosRankSum=-1.836;SOR=1.026	GT:AD:DP:GQ:PL	0/1:72,81:153:99:2015,0,1974	17	0	2	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	0.02632	233.34	36	chr1	180941064	.	A	G	233.34	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0;DP=636;ExcessHet=0;FS=0;InbreedingCoeff=-0.0273;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.97;ReadPosRankSum=0.494;SOR=0.919	GT:AD:DP:GQ:PL	0/1:15,11:26:99:247,0,392	18	0	1	0
chr1	181755376	181755376	A	C	exonic	CACNA1E	.	nonsynonymous SNV	CACNA1E:NM_001205294:exon27:c.A3911C:p.K1304T,CACNA1E:NM_000721:exon28:c.A3968C:p.K1323T,CACNA1E:NM_001205293:exon28:c.A3968C:p.K1323T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.829	0.575358930402	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.50676	D	0.006	0.72224	D	0.999	0.77913	D	0.994	0.82059	D	0.000001	0.62929	D	0.097124	1	0.81001	D	1.395	0.35261	L	-3.98	0.96496	D	-5.54	0.86149	D	0.499	0.56231	1.041	0.97923	D	0.911	0.97053	D	10	0.68912774	0.71746	D	0.575359	0.96175	D	0.829	0.94579	0.451	0.51285	0.853503182074	0.85209	0.9718185694853211	0.97170	1.88409368239	0.92644	0.77986061573	0.78906	T	0.955312	0.99384	D	0.212944	0.75109	D	0.0681022	0.74784	D	0.991780936717987	0.82131	D	0.963804	0.86607	D	0.645231	0.75110	0.5376644	0.73282	0.645231	0.75111	0.5376644	0.73283	-11.138	0.80409	D	.	.	0.62	0.84845	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.639081	0.73833	26.1	0.9983108424146393	0.91284	0.96658	0.70254	D	AEFGBI	0.826251	0.74577	D	0.576940060704178	0.71736	5.696623	0.593286959409967	0.74456	6.140353	0.999992003654374	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.29	5.29	0.74430	5.987000	0.70248	11.248000	0.90647	0.754000	0.88378	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	14.885	0.70198	692	0.58729	.;.;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	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1059.33	38	chr1	181755376	.	A	C	1059.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.679;DP=713;ExcessHet=0;FS=4.106;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.46;ReadPosRankSum=-0.92;SOR=0.895	GT:AD:DP:GQ:PL	0/1:41,44:85:99:1073,0,1065	18	0	1	0
chr1	200663990	200663990	T	G	exonic	DDX59	.	nonsynonymous SNV	DDX59:NM_001320182:exon2:c.A901C:p.M301L,DDX59:NM_001031725:exon3:c.A901C:p.M301L,DDX59:NM_001320181:exon3:c.A901C:p.M301L,DDX59:NM_001349799:exon3:c.A901C:p.M301L,DDX59:NM_001349800:exon3:c.A901C:p.M301L,DDX59:NM_001349801:exon3:c.A901C:p.M301L,DDX59:NM_001349802:exon3:c.A901C:p.M301L,DDX59:NM_001349803:exon3:c.A901C:p.M301L,DDX59:NM_001349804:exon3:c.A901C:p.M301L	Orofaciodigital syndrome V, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.227	0.014241396887	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	0.32610	T	0.347	0.17640	T	0.022	0.18677	B	0.057	0.26280	B	0.000000	0.84330	N	0.035429	0.999999	0.58761	D	-1.12	0.00947	N	2.91	0.10008	T	-1.56	0.37759	N	0.279	0.31590	-0.9915	0.32218	T	0.011	0.04042	T	10	0.20532069	0.36754	T	0.014241	0.34223	T	0.227	0.52620	0.488	0.57257	0.441844919209	0.43804	0.622936475898087	0.62226	0.256238188023	0.28199	0.50328797102	0.39286	T	0.010638	0.09586	T	-0.134968	0.30696	T	-0.431649	0.29749	T	0.805423200130463	0.46727	D	0.772023	0.40277	T	0.33950758	0.56240	0.23029819	0.48128	0.33950758	0.56240	0.23029819	0.48127	-2.567	0.06257	T	0.2652294666856925	0.35761	0.275	0.50871	B	.;.	.;.	3.112866	0.41995	21.5	0.94211499975976598	0.24453	0.97786	0.77123	D	AEFBI	0.736030	0.68166	D	-0.487530441820676	0.22489	1.20117	-0.221986255498157	0.30748	1.734055	0.999999989838241	0.74766	0.706548	0.73137	0	0.662677	0.63036	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.75	4.61	0.56724	6.012000	0.70424	6.361000	0.55508	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.907000	0.44265	0.0:0.0:0.1344:0.8656	13.060	0.58412	672	0.60758	.;DEAD/DEAH box helicase domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-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	.	.	.	.	.	.	.	.	0.02632	857.33	34	chr1	200663990	.	T	G	857.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.169;DP=733;ExcessHet=0;FS=4.032;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.32;ReadPosRankSum=1.56;SOR=0.866	GT:AD:DP:GQ:PL	0/1:55,37:92:99:871,0,1523	18	0	1	0
chr1	201718545	201718545	C	T	exonic	NAV1	.	nonsynonymous SNV	NAV1:NM_020443:exon3:c.C1016T:p.S339L	.	432	1089	1	0	0	1	0.000458926	.	.	.	2756306	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.128	0.0178887112316	.	.	1.677e-05	0	0	0	0	3.061e-05	0	0	1.94e-05	3	154602	rs780189061	1.506e-05	1.505e-05	1.907e-05	1.101e-05	2.32e-05	9.86e-06	8.42e-06	1.093e-05	8.81e-06	0	0	0	0	0	0	1.709e-05	1.657e-05	2.32e-05	1.971e-05	1.97e-05	1.285e-05	2.69e-05	6.543e-05	5.24e-06	2.45e-06	.	.	2.412e-05	0	6.543e-05	0	0	0	0.0032	0	0	0	0.091	0.31834	T	0.222	0.31225	T	.	.	.	.	.	.	0.173737	0.17299	N	0.587434	0.834466	0.34968	D	-0.295	0.03650	N	0.94	0.43672	T	-1.58	0.44852	N	0.626	0.64052	-0.9778	0.35503	T	0.093	0.35309	T	10	0.2925087	0.46828	T	0.017889	0.39762	T	0.128	0.35103	0.164	0.06842	0.216943180021	0.21308	0.41386755013544774	0.41302	0.862274680542	0.69014	0.755126953125	0.75204	T	0.056791	0.30387	T	-0.148327	0.28573	T	-0.435352	0.29328	T	0.538237690925598	0.34039	D	0.909809	0.68064	D	0.10255602	0.24233	0.122055374	0.29445	0.10255602	0.24233	0.122055374	0.29445	-5.36	0.40533	T	.	.	0.116	0.23290	B	.;.	.;.	4.302420	0.65697	24.9	0.99179553367865336	0.54643	0.95197	0.63797	D	AEFDGBCI	0.471297	0.51690	N	-0.118556314399807	0.36584	2.116689	0.0356629403038343	0.41383	2.485371	0.999999999979332	0.74766	0.700653	0.57754	0	0.491513	0.07743	0	0.717052	0.78885	0	0.635551	0.53088	0	.	.	5.05	5.05	0.67566	5.300000	0.65515	5.651000	0.49183	0.599000	0.40250	0.998000	0.41325	0.890000	0.27818	0.382000	0.26379	0.0:1.0:0.0:0.0	18.197	0.89758	790	0.46189	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1410.33	39	chr1	201718545	.	C	T	1410.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.96;DP=797;ExcessHet=0;FS=8.731;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.95;ReadPosRankSum=-0.298;SOR=1.43	GT:AD:DP:GQ:PL	0/1:69,49:118:99:1424,0,1641	18	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	.	.	.	.	.	.	.	.	0.3947	3415.12	35	chr1	204444146	.	C	T	3415.12	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-4.545;DP=2707;ExcessHet=20.8569;FS=226.245;InbreedingCoeff=-0.6776;MLEAC=15;MLEAF=0.395;MQ=60;MQRankSum=0;QD=1.58;ReadPosRankSum=0.629;SOR=12.531	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:112,59:171:99:.:.:564,0,2329:.	4	0	15	0
chr1	204457055	204457055	C	A	exonic	PIK3C2B	.	nonsynonymous SNV	PIK3C2B:NM_001377334:exon10:c.G1729T:p.A577S,PIK3C2B:NM_001377335:exon12:c.G1729T:p.A577S,PIK3C2B:NM_002646:exon12:c.G1729T:p.A577S	.	428	1076	17	1	0	19	0.00875173	.	.	.	2815974	not_provided|PIK3C2B-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.092	.	0.0058	0.00339457	0.0104	0.0006	0.0114	0	0.0184	0.0192	0	0.0024	0.005401	835	154602	rs61762602	0.0073	0.0074	0.0075	0.0071	0.0082	0.0072	0.0072	0.0080	0.0080	0.0009	0.0044	0.0071	0	0.0088	0.0079	0.0082	0.0075	0.0022	0.0058	0.0058	0.0059	0.0058	0.0082	0.0055	0.0054	0.0077	0.0074	0.0013	0.0022	0.0078	0.0107	0	0.0079	0.0102	0.0082	0.0066	0.0033	0.759	0.03492	T	1.0	0.02555	T	0.0	0.16609	B	0.001	0.19653	B	0.553917	0.05385	N	1.242290	0.991997	0.23951	N	1.59	0.40313	L	0.9	0.45248	T	0.41	0.03407	N	0.326	0.36674	-1.0443	0.16030	T	0.044	0.18742	T	10	0.0054474175	0.00120	T	.	.	.	0.092	0.26621	.	.	0.331200485591	0.32731	0.2228740159941752	0.22202	0.313180073728	0.33613	0.499567329884	0.38767	T	0.031403	0.22025	T	-0.577101	0.00201	T	-0.592347	0.13463	T	0.00633779952525549	0.00070	T	0.532447	0.21082	T	0.03837733	0.05102	0.03928205	0.03985	0.03837733	0.05102	0.03928205	0.03984	-3.375	0.14722	T	.	.	0.088	0.12276	B	.;.	.;.	2.899083	0.38415	20.7	0.72102997173930505	0.09857	0.96027	0.67203	D	AEFDBIJ	0.368507	0.45558	N	-0.443746811418011	0.23953	1.289933	-0.229332177330784	0.30489	1.717187	0.999943843182665	0.47345	0.643511	0.44296	0	0.653731	0.59785	0	0.688494	0.62686	0	0.635551	0.53088	0	.	.	5.33	3.44	0.38486	2.581000	0.45742	2.190000	0.31200	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.958000	0.51230	0.0:0.8218:0.0:0.1782	8.704	0.33504	629	0.65079	.;.	.	.	.	.	rs61762602	Likely benign	0	0	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	0.008595	0.010204	0.006812	0.008772	0.000000	0.008772	0.024390	0.003817	0.02632	1719.33	54	chr1	204457055	.	C	A	1719.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.056;DP=906;ExcessHet=0;FS=0.604;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.78;ReadPosRankSum=0.715;SOR=0.75	GT:AD:DP:GQ:PL	0/1:76,70:146:99:1733,0,1934	18	0	1	0
chr1	205211450	205211450	C	T	exonic	DSTYK	.	nonsynonymous SNV	DSTYK:NM_015375:exon1:c.G86A:p.R29Q,DSTYK:NM_199462:exon1:c.G86A:p.R29Q	.	278	1240	3	1	0	5	0.00201207	.	.	.	75261	Congenital_anomalies_of_kidney_and_urinary_tract_1|not_specified|not_provided	Gene:100034704,MONDO:MONDO:0012561,MedGen:C1835826,OMIM:610805|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.384	0.689281990408	.	0.000798722	0.0010	0	0.0004	0	0	0.0012	0.0077	0.0017	0.0005951	92	154602	rs200780796	0.0007	0.0006	0.0006	0.0007	0.0017	0.0006	0.0006	0.0015	0.0014	0.0001	0.0008	0.0089	0	0	0.0017	0.0004	0.0009	0.0017	0.0007	0.0007	0.0006	0.0008	0.0021	0.0006	0.0006	0.0015	0.0013	9.62e-05	0	0.0021	0.0092	0	0	0	0.0005	0.0005	0.0008	0.45	0.09374	T	0.364	0.17115	T	0.998	0.73220	D	0.986	0.76916	D	0.000000	0.84330	D	0.000000	0.999974	0.53665	D	1.355	0.33814	L	-1.69	0.83072	D	-0.75	0.24676	N	0.556	0.81957	0.134	0.84769	D	0.610	0.86166	D	10	0.012831062	0.00274	T	0.689282	0.97439	D	0.384	0.70112	0.406	0.43902	0.82854224837	0.82691	0.5089995500452199	0.50821	0.623705127135	0.56599	0.886880040169	0.94866	D	0.012442	0.10938	T	-0.154096	0.27674	T	-0.00138888	0.70246	D	0.210075944662094	0.20957	T	0.879112	0.59504	D	0.45025098	0.64057	0.4489708	0.67923	0.37857646	0.59214	0.38503048	0.63429	-4.119	0.25848	T	.	.	0.260	0.49451	B	.;.	.;.	4.527918	0.71055	25.6	0.99902379961303411	0.97350	0.63219	0.32021	D	ALL	0.553080	0.56448	D	0.543073019713175	0.69661	5.388825	0.556095473171162	0.71820	5.713849	1.0	0.98316	0.024636	0.00146	3	0.218748	0.04544	0	0.239995	0.05000	1	0.249971	0.05119	0	.	.	5.24	5.24	0.72863	4.215000	0.58331	7.249000	0.57924	0.524000	0.24156	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:1.0:0.0:0.0	16.596	0.84648	420	0.81451	.;.	.	.	.	.	.	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	0.001014	0.000000	0.005435	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1392.33	40	chr1	205211450	.	C	T	1392.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.074;DP=743;ExcessHet=0;FS=2.321;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.51;ReadPosRankSum=-0.991;SOR=0.933	GT:AD:DP:GQ:PL	0/1:59,62:121:99:1406,0,1314	18	0	1	0
chr1	205419237	205419237	G	T	exonic	LEMD1	.	nonsynonymous SNV	LEMD1:NM_001001552:exon3:c.C198A:p.D66E,LEMD1:NM_001199050:exon3:c.C198A:p.D66E	.	429	1092	1	0	0	1	0.000457666	.	.	.	2397472	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.076	0.0122183968959	.	.	0.0001	9.61e-05	0	0	0	0.0002	0.0011	0	9.06e-05	14	154602	rs760767068	5.815e-05	5.814e-05	5.582e-05	6.051e-05	0.0005	4.81e-05	4.431e-05	0.0001	7.544e-05	0	0.0002	0.0004	0	0	0.0005	5.306e-05	6.624e-05	2.319e-05	5.912e-05	5.91e-05	2.569e-05	9.412e-05	0.0001	3.077e-05	2.21e-05	2.846e-05	1.858e-05	2.412e-05	0	0.0001	0.0003	0	0	0	7.349e-05	0	0	0.162	0.23541	T	0.058	0.46182	T	0.041	0.21357	B	0.026	0.24832	B	0.985067	0.08068	N	0.993248	1	0.08975	N	0.895	0.22405	L	0.72	0.58176	T	-1.98	0.45769	N	0.083	0.05929	-0.9821	0.34515	T	0.101	0.37366	T	10	0.03466314	0.01683	T	0.012218	0.30597	T	0.076	0.22200	0.19	0.10039	0.221019684889	0.21715	0.05961590987441836	0.05901	0.0270007444614	0.02760	0.284455627203	0.08122	T	0.015428	0.12940	T	-0.49142	0.00638	T	-0.688622	0.06469	T	0.0128154983108049	0.00218	T	0.49795	0.20917	T	0.05340486	0.10101	0.07478595	0.16396	0.05340486	0.10101	0.07478595	0.16396	-3.728	0.20223	T	.	.	0.191	0.41171	B	.;.;.;.	.;.;.;.	1.277229	0.16768	12.75	0.92922408411072566	0.22484	0.05078	0.10873	N	AEFBI	0.062964	0.12137	N	-0.790468423961063	0.13558	0.6687431	-0.798012036858835	0.14543	0.7604607	0.0269867885769923	0.13746	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.25	2.16	0.26663	0.070000	0.14440	1.368000	0.25934	0.676000	0.76740	0.000000	0.06391	0.016000	0.20520	0.147000	0.20199	0.091:0.1706:0.5619:0.1766	3.484	0.07178	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	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	638.33	35	chr1	205419237	.	G	T	638.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.724;DP=697;ExcessHet=0;FS=1.032;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.2;ReadPosRankSum=0.807;SOR=0.551	GT:AD:DP:GQ:PL	0/1:30,27:57:99:652,0,823	18	0	1	0
chr1	206937104	206937104	C	T	exonic	PIGR	.	nonsynonymous SNV	PIGR:NM_002644:exon4:c.G1036A:p.V346I	.	417	1073	30	2	0	34	0.0155963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.00933196404289	0.0043	0.00279553	0.0052	0.0016	0.0029	0.0002	0.0005	0.0074	0.0038	0.0045	0.0048318	747	154602	rs12748810	0.0052	0.0052	0.0051	0.0052	0.0107	0.0051	0.0050	0.0086	0.0078	0.0009	0.0038	0.0133	0.0001	0.0009	0.0107	0.0057	0.0052	0.0025	0.0040	0.0040	0.0041	0.0038	0.0059	0.0037	0.0036	0.0054	0.0052	0.0013	0.0319	0.0029	0.0118	0.0002	0.0005	0.0204	0.0059	0.0062	0.0021	0.172	0.22660	T	0.092	0.39954	T	0.959	0.55135	D	0.344	0.42549	B	0.000454	0.44317	N	0.098719	0.646236	0.32921	D	1.545	0.39105	L	2.3	0.16953	T	-0.58	0.17417	N	0.099	0.08088	-0.9996	0.30030	T	0.029	0.12409	T	10	0.005029261	0.00108	T	0.009332	0.24483	T	0.072	0.21020	.	.	0.189391138174	0.18552	0.4810212973730127	0.48022	0.426954359613	0.43058	0.376184433699	0.21714	T	0.174517	0.52377	T	-0.666129	0.00058	T	-0.724497	0.04581	T	0.0185711887291415	0.00572	T	0.661834	0.27067	T	0.091067985	0.21330	0.051946834	0.08461	0.091067985	0.21329	0.051946834	0.08461	-5.41	0.41016	T	.	.	0.082	0.08899	B	.	.	2.155181	0.27454	17.47	0.99591695879643904	0.73631	0.29423	0.23817	N	AEFBI	0.158394	0.28405	N	0.005644445633114	0.42111	2.531223	-0.0272485895640157	0.38489	2.268321	0.93774651646716	0.27311	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.52	4.61	0.56724	0.074000	0.14525	-0.668000	0.07948	0.599000	0.40250	0.028000	0.20300	0.000000	0.08366	0.750000	0.35786	0.0:0.8245:0.0:0.1755	8.417	0.31840	798	0.45050	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	0.012588	0.010101	0.006793	0.005848	0.000000	0.008621	0.027439	0.018939	0.05263	2038.83	45	chr1	206937104	.	C	T	2038.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.583;DP=886;ExcessHet=0.119;FS=4.947;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.58;ReadPosRankSum=2.17;SOR=0.41	GT:AD:DP:GQ:PL	0/1:47,35:82:99:920,0,1342	17	0	2	0
chr1	211576034	211576034	G	A	exonic	SLC30A1	.	nonsynonymous SNV	SLC30A1:NM_021194:exon2:c.C878T:p.A293V	.	436	1083	2	1	0	4	0.00184332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.183	0.00956383795225	.	.	.	.	.	.	.	.	.	.	.	.	.	rs750634962	4.791e-06	5.472e-06	1.362e-06	8.256e-06	0.0002	1.99e-06	1.28e-06	1.32e-06	9.6e-07	0	0	0	0	0	0.0002	4.498e-06	1.657e-05	0	6.571e-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	0.299	0.14546	T	0.295	0.20680	T	0.201	0.29693	B	0.089	0.29769	B	0.044550	0.23626	N	0.489631	0.96711	0.25863	N	0.345	0.11182	N	-0.08	0.63911	T	-0.28	0.11547	N	0.176	0.18920	-1.0136	0.25784	T	0.129	0.43767	T	10	0.10432905	0.19229	T	0.009564	0.25016	T	0.183	0.45592	.	.	0.24933006939	0.24537	0.2467274031715188	0.24586	0.681731674363	0.60068	0.348809659481	0.17748	T	0.212	0.57305	T	-0.029456	0.47496	T	-0.280088	0.46794	T	0.313452353585903	0.25555	T	0.675332	0.28377	T	0.045988683	0.07621	0.05424769	0.09294	0.045988683	0.07620	0.05424769	0.09293	-4.652	0.32818	T	.	.	0.087	0.11269	B	.	.	2.953498	0.39306	20.9	0.96877526958992943	0.31446	0.95023	0.63158	D	AEFDGBCI	0.472982	0.51786	N	-0.0481384439342829	0.39686	2.344342	0.10854931533317	0.44984	2.769852	0.999999631186355	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.731467	0.93227	0	0.638787	0.57140	0	.	.	5.44	3.56	0.39892	6.534000	0.73741	6.570000	0.55965	0.676000	0.76740	1.000000	0.71638	0.999000	0.35428	1.000000	0.97212	0.32:0.0:0.68:0.0	5.531	0.16275	814	0.42100	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1797.33	33	chr1	211576034	.	G	A	1797.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-5.397;DP=739;ExcessHet=0;FS=4.469;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.98;ReadPosRankSum=-1.748;SOR=0.844	GT:AD:DP:GQ:PL	0/1:52,68:120:99:1811,0,1593	18	0	1	0
chr1	220154029	220154029	G	C	exonic	RAB3GAP2	.	nonsynonymous SNV	RAB3GAP2:NM_012414:exon32:c.C3584G:p.T1195S	Martsolf syndrome, Autosomal recessive;Warburg micro syndrome 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.00874835817134	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.849e-07	5.199e-05	1.363e-06	0	9.003e-07	0	0	.	.	0	0	0	0	0	0	9.003e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	0.21066	T	0.709	0.05544	T	0.918	0.50838	P	0.243	0.38752	B	0.000001	0.62929	D	0.097802	0.989506	0.40966	D	1.965	0.53209	M	1.55	0.29866	T	-1.19	0.30346	N	0.147	0.14905	-1.1200	0.02331	T	0.056	0.23715	T	10	0.2658563	0.44086	T	0.008748	0.23099	T	0.141	0.37795	0.358	0.36060	0.223474106383	0.21959	0.16981700195601018	0.16901	0.592570687533	0.54640	0.739543437958	0.72906	T	0.027942	0.20352	T	-0.137119	0.30348	T	-0.434738	0.29399	T	0.899769723415375	0.55214	D	0.762924	0.38892	T	0.1383725	0.32004	0.21677402	0.46317	0.1383725	0.32004	0.21677402	0.46316	-2.787	0.08064	T	0.07926114128440298	0.03886	0.096	0.15475	B	.	.	3.368266	0.46533	22.3	0.99285218365232031	0.58043	0.98279	0.81205	D	AEFBI	0.720452	0.67101	D	0.402651685043986	0.61569	4.359683	0.526830799331264	0.69803	5.412558	0.999690459879266	0.41870	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.73	5.73	0.89730	6.424000	0.73282	11.862000	0.98348	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.260	0.98443	533	0.73433	Rab3GAP regulatory subunit, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2895	441.37	57	chr1	220154029	.	G	C	441.37	.	AC=11;AF=0.289;AN=38;BaseQRankSum=-2.586;DP=1759;ExcessHet=8.9063;FS=228.055;InbreedingCoeff=-0.3733;MLEAC=10;MLEAF=0.263;MQ=60;MQRankSum=0;QD=0.45;ReadPosRankSum=-0.074;SOR=12.31	GT:AD:DP:GQ:PL	0/1:52,29:87:84:84,0,531	8	0	11	0
chr1	225831806	225831806	C	T	exonic	EPHX1	.	nonsynonymous SNV	EPHX1:NM_000120:exon3:c.C211T:p.R71C,EPHX1:NM_001136018:exon3:c.C211T:p.R71C,EPHX1:NM_001291163:exon3:c.C211T:p.R71C,EPHX1:NM_001378427:exon3:c.C211T:p.R71C,EPHX1:NM_001378428:exon3:c.C184T:p.R62C,EPHX1:NM_001378429:exon3:c.C211T:p.R71C,EPHX1:NM_001378430:exon3:c.C211T:p.R71C,EPHX1:NM_001378431:exon3:c.C211T:p.R71C,EPHX1:NM_001378432:exon3:c.C211T:p.R71C,EPHX1:NM_001378426:exon4:c.C211T:p.R71C	Diphenylhydantoin toxicity (1);Hypercholanemia, familial	2	1514	5	1	0	7	0.00230643	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.346	0.214176623594	7.7e-05	.	0.0002	9.612e-05	0	0.0001	0	0.0003	0	0	0.0002199	34	154602	rs148240980	0.0003	0.0003	0.0002	0.0003	0.0003	0.0002	0.0002	0.0003	0.0003	2.987e-05	0.0001	0.0003	2.519e-05	3.744e-05	0.0002	0.0003	0.0002	5.797e-05	0.0001	0.0001	0.0002	9.42e-05	0.0002	9.153e-05	7.707e-05	0.0001	9.898e-05	4.826e-05	0	6.551e-05	0.0012	0	0	0	0.0002	0	0	0.0	0.91255	D	0.002	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.12	0.97420	H	3.42	0.05507	T	-6.96	0.93509	D	0.871	0.86833	-0.6766	0.61529	T	0.120	0.41821	T	10	0.7081895	0.72873	D	0.214177	0.87444	D	0.346	0.66769	.	.	0.611786747218	0.60866	0.8823373758572228	0.88201	0.897491480537	0.70508	0.434090971947	0.29768	T	0.451088	0.79195	T	-0.0195844	0.48914	T	0.0600332	0.74248	D	0.887440621852875	0.53793	D	0.970903	0.91743	D	0.79896	0.83838	0.4412409	0.67415	0.79896	0.83840	0.4412409	0.67415	-9.895	0.73280	D	.	.	0.228	0.53633	B	.;.;.;.;.	.;.;.;.;.	5.310542	0.89146	29.9	0.99930008885295207	0.99334	0.97598	0.75804	D	AEFDBI	0.871856	0.79345	D	0.764968967382165	0.83874	8.133622	0.593981375821115	0.74506	6.148798	0.999952925869385	0.48110	0.706548	0.73137	0	0.670034	0.63936	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.62	5.62	0.85714	3.780000	0.55092	7.385000	0.58477	0.526000	0.24426	0.998000	0.41325	1.000000	0.68203	0.670000	0.33251	0.2062:0.7938:0.0:0.0	15.106	0.71992	614	0.66605	Epoxide hydrolase, N-terminal;Epoxide hydrolase, N-terminal;Epoxide hydrolase, N-terminal;Epoxide hydrolase, N-terminal;Epoxide hydrolase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	921.33	33	chr1	225831806	.	C	T	921.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.52;DP=725;ExcessHet=0;FS=1.955;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.35;ReadPosRankSum=1.82;SOR=0.969	GT:AD:DP:GQ:PL	0/1:54,35:89:99:935,0,1420	18	0	1	0
chr1	228216481	228216481	G	A	exonic	OBSCN	.	nonsynonymous SNV	OBSCN:NM_001098623:exon7:c.G2156A:p.R719Q,OBSCN:NM_001271223:exon7:c.G2156A:p.R719Q,OBSCN:NM_052843:exon7:c.G2156A:p.R719Q	.	.	.	.	.	.	.	.	.	.	.	4001447	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.042	0.0247436965742	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs757234831	5.004e-06	6.156e-06	4.233e-06	5.795e-06	5.588e-05	2.08e-06	1.34e-06	9.26e-06	3.46e-06	0	5.588e-05	0	2.794e-05	0	0	1.852e-06	0	2.523e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.377	0.11298	T	0.27	0.23298	T	0.236	0.30770	B	0.014	0.20508	B	0.003397	0.35013	N	0.233435	1	0.81001	D	0.765	0.19305	N	3.55	0.04746	T	-0.44	0.19933	N	0.148	0.15046	-0.8344	0.53015	T	0.008	0.02842	T	10	0.07209024	0.10714	T	0.024744	0.47736	T	0.042	0.11227	.	.	0.273503213844	0.26977	0.20953119184750352	0.20869	0.133100499212	0.14989	0.399855792522	0.25048	T	0.020606	0.16197	T	-0.430301	0.01476	T	-0.728096	0.04413	T	0.0941590666770935	0.11702	T	0.714029	0.32612	T	0.03691661	0.04635	0.044990398	0.05953	0.03691661	0.04634	0.044990398	0.05953	-4.907	0.35814	T	.	.	0.083	0.08997	B	.;.;.;.;.	.;.;.;.;.	2.347707	0.30093	18.33	0.98501827004540521	0.42228	0.41738	0.26724	N	AEFDBI	0.142919	0.26548	N	-0.547966248832948	0.20548	1.083989	-0.422407272816071	0.24340	1.332375	0.999736776588853	0.42341	0.553676	0.25195	0	0.588015	0.36545	0	0.670488	0.60580	0	0.613276	0.41899	0	.	.	5.06	3.17	0.35510	1.392000	0.34095	0.660000	0.20495	0.618000	0.50648	0.736000	0.28985	0.001000	0.17328	0.956000	0.50813	0.1839:0.0:0.8161:0.0	8.295	0.31140	506	0.75555	.;Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1752.33	33	chr1	228216481	.	G	A	1752.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.43;DP=770;ExcessHet=0;FS=6.535;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.38;ReadPosRankSum=0.237;SOR=0.952	GT:AD:DP:GQ:PL	0/1:67,64:131:99:1766,0,1671	18	0	1	0
chr1	236017198	236017198	C	T	exonic	NID1	.	nonsynonymous SNV	NID1:NM_002508:exon10:c.G2204A:p.R735H	.	425	1034	60	3	0	66	0.0309278	.	.	.	696593	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.575	.	0.0035	0.00758786	0.0087	0.0014	0.0035	0.0003	0.0194	0.0075	0.0088	0.0220	0.0078654	1216	154602	rs140374909	0.0060	0.0060	0.0054	0.0066	0.0298	0.0059	0.0059	0.0262	0.0248	0.0016	0.0038	0.0204	0.0004	0.0201	0.0298	0.0041	0.0076	0.0211	0.0058	0.0059	0.0049	0.0068	0.0193	0.0055	0.0054	0.0162	0.0150	0.0013	0	0.0065	0.0204	0.0010	0.0193	0.0274	0.0050	0.0062	0.0193	0.065	0.36310	T	0.051	0.47828	T	0.562	0.38380	P	0.219	0.37734	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.94	0.23649	L	-3.04	0.92357	D	-4.0	0.74051	D	0.899	0.89912	0.218	0.86206	D	0.586	0.85136	D	10	0.02833268	0.00966	T	.	.	.	0.575	0.82799	.	.	0.877072477656	0.87587	0.5254772813322914	0.52471	0.862312818367	0.69017	0.457313537598	0.32942	T	0.474465	0.80590	T	-0.00145907	0.51454	T	0.240723	0.85180	D	0.0331431175979164	0.02495	T	0.853215	0.53849	D	0.27889568	0.50942	0.32720947	0.58620	0.27032858	0.50105	0.32720947	0.58620	-5.801	0.44583	T	0.3513368987681945	0.44852	0.073	0.04640	B	.	.	4.355198	0.66921	25.0	0.99925081920638503	0.99042	0.95391	0.64536	D	AEFBCI	0.942119	0.94628	D	0.369368960004452	0.59769	4.159	0.514997655487685	0.68997	5.298048	0.999999999999993	0.74766	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.93	5.93	0.95888	7.548000	0.81103	5.874000	0.50567	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	20.340	0.98759	464	0.78488	EGF-like calcium-binding domain|EGF-like calcium-binding, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.034778	0.015152	0.033967	0.047059	0.000000	0.034483	0.045732	0.018939	0.1053	5515.43	33	chr1	236017198	.	C	T	5515.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=1.22;DP=1025;ExcessHet=0.7564;FS=1.101;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=11.26;ReadPosRankSum=0.766;SOR=0.816	GT:AD:DP:GQ:PL	0/1:61,58:119:99:1501,0,1440	15	0	4	0
chr1	241996249	241996249	C	T	exonic	MAP1LC3C	.	nonsynonymous SNV	MAP1LC3C:NM_001004343:exon4:c.G358A:p.A120T	.	422	1099	1	0	0	1	0.000454752	.	.	.	3988584	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.126	0.00838823185212	.	.	.	.	.	.	.	.	.	.	.	.	.	rs867743099	4.72e-05	4.788e-05	4.628e-05	4.813e-05	0.0019	3.794e-05	3.476e-05	0.0011	0.0008	0	0	3.826e-05	0	0	0.0019	4.496e-05	4.967e-05	4.637e-05	3.943e-05	3.94e-05	6.424e-05	1.345e-05	7.237e-05	1.716e-05	1.13e-05	1.919e-05	1.032e-05	7.237e-05	0	0	0	0	0	0	4.41e-05	0	0	0.079	0.33753	T	0.061	0.45530	T	0.078	0.24389	B	0.297	0.40924	B	0.000001	0.84330	N	0.054505	0.999225	0.46379	D	2.54	0.74080	M	0.97	0.42502	T	-3.63	0.69714	D	0.429	0.46835	-0.9068	0.47238	T	0.150	0.47787	T	10	0.300067	0.47556	T	0.008388	0.22206	T	0.126	0.34673	.	.	0.492816438443	0.48917	0.5530296234506175	0.55228	1.10507444367	0.77870	0.419387638569	0.27753	T	0.08506	0.37418	T	-0.138756	0.30089	T	-0.373444	0.36486	T	0.942921102046967	0.61759	D	0.880112	0.59716	D	0.5461293	0.69740	0.39945197	0.64508	0.5461293	0.69741	0.39945197	0.64508	-8.633	0.65306	D	.	.	0.478	0.63585	A	.	.	3.238837	0.44204	21.9	0.99859060908590636	0.93729	0.88597	0.48599	D	AEFDBI	0.508187	0.53818	D	-0.00827810797705368	0.41481	2.481845	0.0260083848515434	0.40926	2.450358	0.999946786694921	0.47345	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	4.18	2.28	0.27583	4.261000	0.58639	-0.125000	0.11680	0.587000	0.30956	1.000000	0.71638	0.002000	0.18203	0.990000	0.65344	0.1573:0.7583:0.0:0.0844	8.137	0.30221	872	0.31118	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1230.33	33	chr1	241996249	.	C	T	1230.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.183;DP=724;ExcessHet=0;FS=1.686;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.95;ReadPosRankSum=-0.57;SOR=0.492	GT:AD:DP:GQ:PL	0/1:46,49:95:99:1244,0,1154	18	0	1	0
chr1	247329233	247329233	C	T	exonic	ZNF496	.	nonsynonymous SNV	ZNF496:NM_001329733:exon4:c.G346A:p.A116T,ZNF496:NM_032752:exon4:c.G346A:p.A116T	.	.	.	.	.	.	.	.	.	.	.	2301416	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.131	0.0028191179561	.	0.000199681	2.532e-05	0.0001	0	0	0	1.544e-05	0	6.064e-05	3.23e-05	5	154602	rs188968543	1.232e-05	1.231e-05	1.226e-05	1.238e-05	0.0003	7.7e-06	6.35e-06	6.092e-05	2.521e-05	5.974e-05	4.472e-05	0	0	0	0.0003	8.993e-06	1.656e-05	1.159e-05	1.97e-05	1.969e-05	2.57e-05	1.343e-05	7.217e-05	5.24e-06	2.45e-06	1.914e-05	1.03e-05	7.217e-05	0	0	0	0	0	0	0	0	0	0.069	0.35537	T	0.077	0.42436	T	1.0	0.90584	D	0.992	0.80445	D	0.009857	0.30173	N	0.154354	0.998923	0.21792	N	0.55	0.14455	N	3.67	0.04188	T	-0.54	0.16598	N	0.494	0.52740	-1.1162	0.02587	T	0.029	0.12541	T	10	0.15646783	0.29467	T	0.002819	0.05898	T	0.131	0.35738	.	.	0.232442253697	0.22838	0.48348503183573976	0.48268	1.27251452681	0.82317	0.661951303482	0.61689	T	0.104631	0.41436	T	-0.367063	0.03745	T	-0.58289	0.14288	T	0.312000052875808	0.25496	T	0.829517	0.49484	T	0.05997921	0.12254	0.07684429	0.17059	0.05997921	0.12253	0.07684429	0.17059	-6.435	0.49782	T	.	.	0.402	0.59711	A	.;.	.;.	3.529183	0.49512	22.8	0.99891337142934222	0.96513	0.22169	0.21655	N	AEFDBCI	0.073606	0.14728	N	0.0787000569687051	0.45470	2.803003	-0.0404320275666148	0.37908	2.225938	0.999999989418697	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.21	4.21	0.48984	0.687000	0.25088	.	.	0.599000	0.40250	0.013000	0.18845	0.999000	0.35428	0.938000	0.47775	0.0:1.0:0.0:0.0	12.272	0.54030	912	0.21483	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	.	.	.	.	.	.	.	.	0.02632	1584.33	36	chr1	247329233	.	C	T	1584.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.386;DP=781;ExcessHet=0;FS=1.495;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.54;ReadPosRankSum=-0.167;SOR=0.549	GT:AD:DP:GQ:PL	0/1:54,63:117:99:1598,0,1286	18	0	1	0
chr2	677342	677342	G	A	exonic	TMEM18	.	nonsynonymous SNV	TMEM18:NM_152834:exon1:c.C4T:p.P2S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	.	0.0018	0.00279553	0.0007	0.0079	0.0005	0	0	0	0	0	0.0006015	93	154602	rs113705272	0.0002	0.0002	0.0002	0.0002	0.0068	0.0002	0.0002	0.0061	0.0058	0.0068	0.0002	0	0	0	0.0005	1.259e-05	0.0010	3.496e-05	0.0020	0.0020	0.0019	0.0021	0.0071	0.0018	0.0018	0.0064	0.0062	0.0071	0	0.0003	0	0	0	0	2.94e-05	0.0019	0	0.099	0.30656	T	0.154	0.32040	T	0.035	0.20614	B	0.01	0.14941	B	0.198339	0.16665	N	0.606487	0.999961	0.18878	N	1.3	0.32576	L	.	.	.	-0.88	0.23808	N	0.282	0.31925	-1.0866	0.06120	T	0.043	0.18659	T	9	0.009626389	0.00217	T	.	.	.	0.026	0.05648	.	.	0.0138822411134	0.00435	.	.	0.148901881253	0.16790	0.683542430401	0.64778	T	0.018808	0.15099	T	-0.504988	0.00536	T	-0.494292	0.22943	T	0.0204603655562478	0.00746	T	0.578742	0.20864	T	0.041865155	0.06245	0.0659646	0.13445	0.041865155	0.06244	0.0659646	0.13444	-2.19	0.03992	T	.	.	0.163	0.35890	B	.	.	1.537414	0.19722	14.40	0.84790262934415017	0.15499	0.18110	0.20124	N	ALL	0.109687	0.21778	N	-0.634481682307644	0.17915	0.9259622	-0.600393903711217	0.19483	1.04551	0.999999999999988	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	3.43	0.552	0.16419	0.543000	0.22945	0.192000	0.15754	0.613000	0.49114	0.891000	0.31220	0.970000	0.29701	0.050000	0.15192	0.2417:0.2096:0.5487:0.0	3.621	0.07637	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	0.002028	0.000000	0.002717	0.005848	0.000000	0.008621	0.000000	0.000000	0.02632	1079.33	33	chr2	677342	.	G	A	1079.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.451;DP=791;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.85;ReadPosRankSum=-0.058;SOR=0.775	GT:AD:DP:GQ:PL	0/1:40,44:84:99:1093,0,1048	18	0	1	0
chr2	17516179	17516179	C	T	exonic	RAD51AP2	.	nonsynonymous SNV	RAD51AP2:NM_001099218:exon1:c.G2237A:p.R746Q,RAD51AP2:NM_001321233:exon5:c.G2210A:p.R737Q	.	437	1069	15	1	0	17	0.00788863	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	.	0.0002	0.000798722	0.0019	0.0001	0.0005	0	0.0003	0.0007	0.0033	0.0105	0.00163	252	154602	rs200773447	0.0011	0.0011	0.0007	0.0015	0.0117	0.0011	0.0010	0.0111	0.0109	2.989e-05	0.0007	0.0058	5.045e-05	5.638e-05	0.0089	0.0002	0.0015	0.0117	0.0006	0.0006	0.0004	0.0008	0.0087	0.0005	0.0005	0.0066	0.0059	4.81e-05	0	0.0012	0.0032	0	0.0002	0.0068	0.0003	0.0005	0.0087	0.632	0.05121	T	0.591	0.08189	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.895	0.01383	N	1.98	0.21865	T	0.79	0.01893	N	0.025	0.00485	-0.9490	0.41143	T	0.023	0.09604	T	9	0.0025319457	0.00038	T	.	.	.	0.012	0.01476	.	.	0.0551355673512	0.04727	0.028590898453410923	0.02809	0.0693334402013	0.07761	0.246480032802	0.03406	T	7.49E-4	0.00347	T	-0.663463	0.00060	T	-0.7164	0.04971	T	0.00516449866850072	0.00056	T	0.217878	0.02755	T	0.034361023	0.03840	0.06580975	0.13390	0.034361023	0.03840	0.06580975	0.13390	-2.718	0.07455	T	.	.	0.086	0.10787	B	.	.	0.467568	0.08370	5.125	0.33072046989265746	0.01951	0.00190	0.01102	N	AEFBI	0.025622	0.01787	N	-1.30129592362483	0.03661	0.1639218	-1.26842011852566	0.04864	0.2304515	0.0225252316555484	0.13437	0.446893	0.09132	0	0.491513	0.07743	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.25	1.84	0.24348	-0.451000	0.06869	-0.971000	0.06745	-0.108000	0.15293	0.000000	0.06391	0.000000	0.08366	0.618000	0.31844	0.0:0.3654:0.0:0.6346	7.759	0.28105	769	0.49307	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007049	0.000000	0.004076	0.002924	0.000000	0.008621	0.000000	0.026515	0.05263	4411.83	36	chr2	17516179	.	C	T	4411.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.38;DP=1462;ExcessHet=0.119;FS=0.833;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.37;ReadPosRankSum=0.882;SOR=0.628	GT:AD:DP:GQ:PL	0/1:87,86:173:99:2401,0,2241	17	0	2	0
chr2	23864893	23864893	T	C	exonic	ATAD2B	.	nonsynonymous SNV	ATAD2B:NM_001242338:exon11:c.A1220G:p.H407R,ATAD2B:NM_017552:exon11:c.A1220G:p.H407R,ATAD2B:NM_001354107:exon12:c.A1262G:p.H421R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.0116478170939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.077e-06	4.105e-06	4.129e-06	0	2.717e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.717e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.448	0.09048	T	0.527	0.10209	T	.	.	.	.	.	.	.	.	.	.	0.955574	0.37932	D	.	.	.	-3.53	0.94764	D	-1.58	0.38151	N	0.19	0.20793	-0.8923	0.48731	T	0.148	0.47344	T	9	0.17789313	0.32846	T	0.011648	0.29486	T	0.219	0.51417	0.331	0.31681	0.672754582956	0.66998	0.6648068104265349	0.66417	0.60285670828	0.55282	0.627035319805	0.56724	T	.	.	.	0.0664316	0.60411	T	-0.142352	0.59914	T	0.361597471305519	0.27471	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.11845	B	.	.	3.381871	0.46779	22.4	0.96857722296242954	0.31369	0.92978	0.57018	D	AEFBI	0.378817	0.46207	N	0.214845505970457	0.51920	3.369515	0.360670962237465	0.59152	4.090821	0.916302595852516	0.26509	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.84	5.84	0.93373	4.206000	0.58271	6.222000	0.55136	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.532	0.84210	788	0.46569	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	1906.46	28	chr2	23864893	.	T	C	1906.46	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-2.108;DP=1231;ExcessHet=31.086;FS=215.109;InbreedingCoeff=-0.7907;MLEAC=17;MLEAF=0.447;MQ=60;MQRankSum=0;QD=1.67;ReadPosRankSum=1.27;SOR=11.901	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:35,15:50:42:.:.:42,0,541:.	2	0	17	0
chr2	26318051	26318051	C	T	exonic	ADGRF3	.	stopgain	ADGRF3:NM_001145168:exon2:c.G251A:p.W84X	.	408	1104	9	1	0	11	0.00495719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	0.0012	0	0.0024	0	0	0.0001	0.0042	0.0031	0.000194	30	154602	rs372835378	0.0002	0.0002	0.0001	0.0003	0.0026	0.0002	0.0002	0.0023	0.0022	0	2.803e-05	0	0	2.029e-05	0.0009	2.41e-05	0.0002	0.0026	9.191e-05	9.186e-05	7.708e-05	0.0001	0.0023	5.523e-05	4.361e-05	0.0013	0.0010	0	0	0	0	0.0002	0	0	2.94e-05	0	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.02	0.00308	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.243396	0.14919	T	-0.127635	0.61169	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	0.335669	0.07097	3.667	0.96522272928220476	0.30119	0.00408	0.02030	N	AEFDGBI	0.031604	0.03414	N	-0.274643380820906	0.30130	1.677226	-0.712724760128822	0.16644	0.8814624	0.988105338177474	0.31419	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	0.927	-0.244	0.12388	-0.649000	0.05483	0.158000	0.15372	0.469000	0.21855	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.0:0.5745:0.4255:0.0	4.449	0.11031	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	0.002953	0.000000	0.000000	0.000000	0.000000	0.043478	0.000000	0.008621	0.05263	1823.83	37	chr2	26318051	.	C	T	1823.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.16;DP=737;ExcessHet=0.119;FS=1.291;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.16;ReadPosRankSum=-0.533;SOR=0.836	GT:AD:DP:GQ:PL	0/1:50,29:79:99:778,0,1323	17	0	2	0
chr2	26463516	26463516	G	A	exonic	OTOF	.	nonsynonymous SNV	OTOF:NM_194322:exon23:c.C3089T:p.T1030M,OTOF:NM_004802:exon24:c.C2858T:p.T953M,OTOF:NM_194323:exon24:c.C2858T:p.T953M,OTOF:NM_001287489:exon41:c.C5159T:p.T1720M,OTOF:NM_194248:exon41:c.C5159T:p.T1720M	Auditory neuropathy, autosomal recessive, 1, Autosomal recessive;Deafness, autosomal recessive 9, Autosomal recessive	0	1505	17	0	0	17	0.00561612	.	.	.	228942	Inborn_genetic_diseases|Autosomal_recessive_nonsyndromic_hearing_loss_9|not_provided|not_specified	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0010986,MedGen:C1832828,OMIM:601071,Orphanet:90636|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.553	0.191023354009	.	0.000998403	0.0009	0	0	0	0	0.0001	0.0022	0.0047	0.0004851	75	154602	rs375712326	0.0003	0.0003	0.0002	0.0005	0.0040	0.0003	0.0003	0.0037	0.0035	0	9.074e-05	3.853e-05	2.529e-05	1.893e-05	0.0017	9.19e-05	0.0004	0.0040	0.0002	0.0002	0.0001	0.0002	0.0033	0.0001	0.0001	0.0021	0.0017	2.405e-05	0	0	0	0.0002	0	0	0.0001	0.0005	0.0033	0.001	0.78490	D	0.001	0.83351	D	0.959	0.65571	D	0.707	0.54387	P	0.000000	0.84330	D	0.049718	0.999861	0.50061	D	0.69	0.16971	N	-2.09	0.86077	D	-1.97	0.45587	N	0.51	0.54147	0.378	0.88772	D	0.627	0.86891	D	10	0.013700038	0.00290	T	0.191023	0.86159	D	0.553	0.81544	.	.	0.979867883203	0.97964	0.6465091956220339	0.64585	0.434749923973	0.43605	0.582451164722	0.50430	T	0.232625	0.59923	T	-0.259339	0.12978	T	-0.14772	0.59444	T	0.0971321698461335	0.12038	T	0.949505	0.86724	D	0.3141298	0.54141	0.37541085	0.62685	0.26669618	0.49740	0.41974437	0.65959	-6.309	0.48793	T	0.1227720352436202	0.11807	0.070	0.04477	B	.;.;.;.;.;.	.;.;.;.;.;.	5.319129	0.89281	29.9	0.99918175233795203	0.98586	0.98220	0.80657	D	AEFBI	0.938769	0.93843	D	0.570993097284124	0.71370	5.64043	0.615567534571736	0.76071	6.423784	0.999999999999959	0.74766	0.600919	0.35232	0	0.588015	0.36545	0	0.640751	0.46059	0	0.562822	0.20929	0	.	.	5.11	5.11	0.69188	9.942000	0.98926	11.764000	0.95697	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:1.0:0.0	18.114	0.89476	416	0.81733	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005040	0.005051	0.001359	0.002924	0.000000	0.025862	0.000000	0.007576	0.02632	964.33	39	chr2	26463516	.	G	A	964.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.322;DP=718;ExcessHet=0;FS=0.818;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.35;ReadPosRankSum=1.29;SOR=0.853	GT:AD:DP:GQ:PL	0/1:45,40:85:99:978,0,1108	18	0	1	0
chr2	27082968	27082968	T	G	exonic	EMILIN1	.	nonsynonymous SNV	EMILIN1:NM_007046:exon4:c.T1397G:p.L466R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.0145527248737	.	.	2.18e-05	0	0	0	0	3.736e-05	0	0	1.29e-05	2	154602	rs754865997	6.289e-06	6.157e-06	5.539e-06	7.053e-06	2.54e-05	2.96e-06	2.14e-06	3.14e-06	2.27e-06	0	0	0	2.54e-05	0	0	7.297e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.361	0.11882	T	0.537	0.09863	T	0.004	0.12183	B	0.001	0.04355	B	0.892762	0.08676	N	0.943966	0.999995	0.08975	N	0.695	0.17993	N	-0.01	0.62762	T	0.05	0.06369	N	0.483	0.51761	-1.0213	0.23292	T	0.103	0.37869	T	10	0.08984539	0.15598	T	0.014553	0.34740	T	0.099	0.28413	0.444	0.50139	0.364730456448	0.36084	0.40837468384803355	0.40753	0.340679203976	0.36009	0.487867534161	0.37144	T	0.084504	0.37293	T	-0.239004	0.15475	T	-0.408632	0.32382	T	0.0241633094847202	0.01165	T	0.689031	0.29821	T	0.17845337	0.38865	0.13487443	0.32308	0.17845337	0.38865	0.13487443	0.32307	-1.373	0.01523	T	.	.	0.06	0.00934	B	.	.	1.299507	0.17012	12.90	0.85116739373915051	0.15695	0.04187	0.09689	N	AEFDBCI	0.043097	0.06770	N	-0.788638348662073	0.13605	0.6714619	-0.676086219107818	0.17558	0.9342134	0.99993137766601	0.46732	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	5.43	1.5	0.22029	-1.403000	0.02603	1.908000	0.29627	0.576000	0.29215	0.000000	0.06391	0.999000	0.35428	0.904000	0.43992	0.3365:0.0914:0.0:0.5722	3.737	0.08040	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	.	.	.	.	.	.	.	.	0.02632	659.33	34	chr2	27082968	.	T	G	659.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.861;DP=676;ExcessHet=0;FS=0.962;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.3;ReadPosRankSum=0.548;SOR=0.504	GT:AD:DP:GQ:PL	0/1:36,28:64:99:673,0,994	18	0	1	0
chr2	46369837	46369837	C	G	exonic	EPAS1	.	nonsynonymous SNV	EPAS1:NM_001430:exon7:c.C790G:p.L264V	Erythrocytosis, familial, 4	0	1512	10	0	0	10	0.00329598	.	.	.	1816783	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.296	0.0226182430945	.	.	5.824e-05	0	0	0	0	1.817e-05	0	0.0003	3.88e-05	6	154602	rs199738228	3.629e-05	3.694e-05	1.226e-05	6.059e-05	0.0006	2.831e-05	2.567e-05	0.0004	0.0004	0	0	0	2.519e-05	0	0.0003	0	1.657e-05	0.0006	2.626e-05	2.624e-05	0	5.372e-05	0.0006	8.14e-06	5.14e-06	0.0002	9.011e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0006	0.033	0.44358	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	1.77	0.45869	L	2.23	0.18083	T	-2.91	0.60982	D	0.811	0.80669	-1.1177	0.02482	T	0.072	0.29387	T	10	0.7183091	0.73493	D	0.022618	0.45526	T	0.296	0.61616	0.579	0.70476	0.490941945927	0.48727	0.4354340642456766	0.43460	0.617952798246	0.56210	0.668892264366	0.62679	T	0.452264	0.79266	T	-0.242952	0.14975	T	-0.256759	0.49146	T	0.471050143241882	0.31569	T	0.824517	0.48627	T	0.76149386	0.81541	0.43985766	0.67324	0.76149386	0.81543	0.43985766	0.67325	-8.47	0.64230	D	.	.	0.473	0.63329	A	.	.	3.726596	0.53285	23.3	0.9981355455049471	0.89708	0.93353	0.57990	D	AEFBCI	0.678826	0.64306	D	0.410977102389036	0.62025	4.411897	0.395222154906324	0.61268	4.324765	0.928123217823022	0.26916	0.706548	0.73137	0	0.547309	0.14657	0	0.618467	0.43123	0	0.714379	0.83352	0	.	.	5.65	3.53	0.39533	0.520000	0.22586	1.801000	0.28882	0.594000	0.32500	0.998000	0.41325	1.000000	0.68203	0.999000	0.91618	0.0:0.6708:0.0:0.3292	8.923	0.34783	892	0.26670	PAS fold-3|PAS domain|PAS domain|PAS domain|PAS domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2385.33	34	chr2	46369837	.	C	G	2385.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.267;DP=859;ExcessHet=0;FS=1.008;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.15;ReadPosRankSum=0.355;SOR=0.776	GT:AD:DP:GQ:PL	0/1:133,102:235:99:2399,0,3458	18	0	1	0
chr2	61842347	61842347	G	A	exonic	FAM161A	.	nonsynonymous SNV	FAM161A:NM_001201543:exon2:c.C197T:p.T66I,FAM161A:NM_032180:exon2:c.C197T:p.T66I	Retinitis pigmentosa 28	2	1463	52	5	0	62	0.0207497	.	.	.	177215	Retinitis_pigmentosa_28|not_specified|not_provided|Retinitis_pigmentosa	MONDO:MONDO:0011630,MedGen:C1419614,OMIM:606068,Orphanet:791|MedGen:CN169374|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	.	.	.	.	.	.	.	.	0.014	.	0.0046	0.00259585	0.0071	0.0006	0.0059	0.0008	0.0012	0.0085	0.0114	0.0095	0.0031953	494	154602	rs145199539	0.0046	0.0046	0.0043	0.0049	0.0102	0.0045	0.0045	0.0091	0.0089	0.0007	0.0027	0.0112	5.466e-05	0.0004	0.0102	0.0045	0.0061	0.0097	0.0040	0.0040	0.0039	0.0041	0.0101	0.0037	0.0036	0.0079	0.0071	0.0009	0.0011	0.0031	0.0135	0	0.0005	0.0374	0.0058	0.0066	0.0101	0.019	0.50132	D	0.062	0.45318	T	0.011	0.44504	B	0.008	0.37734	B	.	.	.	.	1	0.08975	N	1.39	0.34934	L	2.68	0.24285	T	-2.18	0.49187	N	0.078	0.05287	-1.0619	0.11288	T	0.022	0.09375	T	9	0.0030406117	0.00050	T	.	.	.	0.014	0.01968	.	.	0.363751660372	0.35992	0.14157861444279105	0.14080	0.0714086533322	0.07995	0.338148593903	0.16161	T	0.002975	0.02370	T	-0.530655	0.00381	T	-0.525631	0.19726	T	0.00501362561801803	0.00054	T	0.643236	0.25495	T	0.068116926	0.14811	0.09173052	0.21581	0.07244453	0.16115	0.099932946	0.23875	-3.236	0.12926	T	0.2690281736431292	0.36221	0.118	0.30868	B	.;.	.;.	1.544181	0.19798	14.44	0.98790717046779686	0.46285	0.36536	0.25555	N	AEFBI	0.076526	0.15397	N	-0.372894268626194	0.26438	1.442932	-0.288800390096853	0.28466	1.587427	2.3214731630198E-4	0.06095	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.43	2.64	0.30504	1.342000	0.33524	0.686000	0.20722	0.676000	0.76740	0.076000	0.22236	0.984000	0.30665	0.952000	0.50033	0.2517:0.0:0.5967:0.1516	4.634	0.11902	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	1	0	0	0	0	0	0	0.008665	0.005102	0.002747	0.000000	0.000000	0.017857	0.031056	0.003817	0.07895	2425.79	67	chr2	61842347	.	G	A	2425.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.545;DP=776;ExcessHet=0.3672;FS=1.17;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=12.13;ReadPosRankSum=-0.192;SOR=0.582	GT:AD:DP:GQ:PL	0/1:35,33:68:99:871,0,881	16	0	3	0
chr2	68945406	68945406	T	C	exonic	GKN2	.	nonsynonymous SNV	GKN2:NM_182536:exon6:c.A517G:p.I173V	.	431	1086	5	0	0	5	0.00229674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00491915443242	.	.	2.473e-05	9.701e-05	0	0	0	0	0	0.0001	1.94e-05	3	154602	rs749069078	2.535e-05	2.599e-05	1.5e-05	3.581e-05	0.0004	1.871e-05	1.633e-05	0.0003	0.0002	2.988e-05	0	0	0	0	0.0002	1.801e-06	3.32e-05	0.0004	2.629e-05	2.627e-05	2.57e-05	2.691e-05	0.0006	8.14e-06	5.14e-06	0.0002	8.992e-05	2.414e-05	0	0	0	0	0	0	0	0	0.0006	0.015	0.52492	D	0.0	0.92824	D	0.009	0.15093	B	0.018	0.18489	B	0.041158	0.23980	N	0.424108	1	0.81001	D	1.54	0.38927	L	0.79	0.49068	T	-0.84	0.22944	N	0.163	0.17140	-1.0410	0.17011	T	0.102	0.37644	T	10	0.07101056	0.10409	T	0.004919	0.12380	T	0.025	0.05312	0.478	0.55663	0.183819452728	0.17975	0.5845234697399282	0.58382	0.0178036153524	0.01746	0.443079471588	0.30998	T	0.003799	0.03212	T	-0.380367	0.03100	T	-0.483824	0.24040	T	0.0627312585711479	0.07592	T	0.564843	0.19943	T	0.065620184	0.14042	0.063445784	0.12568	0.065620184	0.14041	0.063445784	0.12568	-3.47	0.16014	T	.	.	0.106	0.19720	B	.	.	0.884057	0.12572	9.101	0.98496286437120184	0.42156	0.61935	0.31630	D	AEFBI	0.086583	0.17555	N	-0.373106665673531	0.26430	1.442448	-0.300379245609223	0.28086	1.563271	0.99958646031345	0.40607	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.48	0.377	0.15430	0.073000	0.14504	-0.258000	0.10450	0.665000	0.62972	0.992000	0.37556	0.263000	0.23997	0.826000	0.38927	0.0:0.2511:0.1584:0.5905	4.500	0.11271	886	0.28090	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.02632	382.33	33	chr2	68945406	.	T	C	382.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.368;DP=673;ExcessHet=0;FS=1.037;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.17;ReadPosRankSum=-0.491;SOR=0.923	GT:AD:DP:GQ:PL	0/1:41,21:62:99:396,0,980	18	0	1	0
chr2	74252252	74252252	C	T	exonic	SLC4A5	.	nonsynonymous SNV	SLC4A5:NM_021196:exon11:c.G1405A:p.G469R,SLC4A5:NM_133478:exon16:c.G1405A:p.G469R	.	417	1101	4	0	0	4	0.00181324	.	.	.	3211296	SLC4A5-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.358	0.628688771126	0.0002	0.00119808	0.0013	0.0001	0.0005	0	0	0.0003	0.0024	0.0077	0.001009	156	154602	rs142491962	0.0006	0.0006	0.0004	0.0009	0.0065	0.0006	0.0006	0.0061	0.0059	2.994e-05	0.0005	7.701e-05	7.588e-05	0	0.0014	0.0002	0.0008	0.0065	0.0003	0.0003	0.0003	0.0004	0.0068	0.0003	0.0002	0.0050	0.0044	7.224e-05	0	0.0001	0	0	0	0	0.0002	0.0009	0.0068	0.29	0.23360	T	0.068	0.45530	T	0.998	0.73220	D	0.866	0.68536	P	0.004959	0.33236	N	0.138350	0.999992	0.18878	N	0.55	0.14455	N	-5.06	0.98629	D	-0.85	0.23156	N	0.386	0.45615	0.722	0.93444	D	0.931	0.97719	D	10	0.009356618	0.00211	T	0.628689	0.96805	D	0.358	0.67872	0.37	0.38013	0.781510581047	0.77949	0.5879902588108937	0.58729	0.920462800593	0.71423	0.632985413074	0.57568	T	0.076817	0.35509	T	-0.194949	0.21536	T	-0.0493604	0.67066	D	0.0419302150721655	0.04043	T	0.921408	0.71494	D	0.13031532	0.30411	0.09011922	0.21114	0.13031532	0.30411	0.09011922	0.21113	-8.402	0.63778	D	.	.	0.237	0.50545	B	.;.;.;.;.;.	.;.;.;.;.;.	2.748800	0.36020	20.1	0.99691542547096901	0.79977	0.07022	0.13048	N	AEFBI	0.108893	0.21647	N	-0.113585061955255	0.36801	2.132124	-0.219462602300922	0.30838	1.739853	0.997153917230822	0.35326	0.638212	0.43195	0	0.670034	0.63936	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.29	5.29	0.74430	1.674000	0.37160	2.807000	0.34886	0.589000	0.31548	0.007000	0.17678	0.935000	0.28640	0.018000	0.11154	0.0:1.0:0.0:0.0	16.487	0.84031	621	0.65931	.;.;.;.;.;.	.	.	.	.	.	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	0.001036	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	1356.33	35	chr2	74252252	.	C	T	1356.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.81;DP=730;ExcessHet=0;FS=1.543;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.68;ReadPosRankSum=-1.187;SOR=0.552	GT:AD:DP:GQ:PL	0/1:57,50:107:99:1370,0,1479	18	0	1	0
chr2	74416088	74416088	C	T	exonic	C2orf81	.	nonsynonymous SNV	C2orf81:NM_001145054:exon2:c.G181A:p.D61N,C2orf81:NM_001316764:exon2:c.G172A:p.D58N	.	417	1033	69	3	0	75	0.0350304	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.170	.	0.0096	0.00579073	0.0162	0.0019	0.0149	0.0017	0.0055	0.0139	0.0146	0.0245	0.0034346	531	154602	rs61999261	0.0098	0.0094	0.0093	0.0103	0.0233	0.0097	0.0096	0.0224	0.0220	0.0013	0.0036	0.0223	5.664e-05	0.0016	0.0164	0.0097	0.0093	0.0233	0.0068	0.0068	0.0069	0.0067	0.0217	0.0065	0.0063	0.0184	0.0171	0.0017	0.0471	0.0037	0.0239	0	0.0015	0.0272	0.0095	0.0071	0.0217	0.007	0.59928	D	0.009	0.66756	D	0.999	0.77913	D	0.964	0.71005	D	0.015231	0.28305	N	0.169000	0.730451	0.81001	D	.	.	.	.	.	.	-3.34	0.66325	D	0.115	0.18239	-0.1785	0.78218	T	0.291	0.66259	T	9	0.0066019595	0.00149	T	.	.	.	0.170	0.43303	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.48828	0.00664	T	-0.456571	0.26973	T	0.0132588402567505	0.00237	T	0.819918	0.47908	T	0.1454031	0.33332	0.16703159	0.38556	0.1454031	0.33332	0.16703159	0.38555	-8.235	0.62660	D	.	.	0.272	0.56638	B	.;.;.;.	.;.;.;.	4.460103	0.69407	25.4	0.99842137099818384	0.92229	0.66605	0.33136	D	AEFDBCI	0.322372	0.42488	N	0.617773032868231	0.74299	6.109054	0.587038929016393	0.74008	6.064898	0.999999996186617	0.74766	0.608746	0.35421	0	0.627608	0.54475	0	0.603688	0.36954	0	0.63947	0.58350	0	.	.	4.99	4.99	0.65942	2.130000	0.41687	4.820000	0.45111	0.549000	0.26987	0.959000	0.33545	1.000000	0.68203	0.860000	0.40782	0.0:1.0:0.0:0.0	17.569	0.87828	532	0.73501	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.023810	0.010638	0.000000	0.012605	0.000000	0.000000	0.075269	0.023810	0.02632	1957.33	38	chr2	74416088	.	C	T	1957.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.249;DP=804;ExcessHet=0;FS=1.279;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=-1.202;SOR=0.554	GT:AD:DP:GQ:PL	0/1:77,75:152:99:1971,0,2126	18	0	1	0
chr2	74482155	74482155	C	A	exonic	CCDC142	.	nonsynonymous SNV	CCDC142:NM_001365575:exon1:c.G683T:p.R228L,CCDC142:NM_032779:exon1:c.G683T:p.R228L	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.506	0.372759537932	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.84e-07	0	1.376e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.014	0.62352	D	0.993	0.65571	D	0.902	0.64047	P	0.023769	0.26381	N	0.281727	0.506842	0.31680	N	2.05	0.56469	M	-1.9	0.84628	D	-3.55	0.68764	D	0.52	0.56317	0.357	0.88451	D	0.650	0.87788	D	10	0.74329495	0.75110	D	0.37276	0.92786	D	0.506	0.78724	0.45	0.51121	0.882986942167	0.88183	0.41730312027128497	0.41646	1.63092040909	0.89220	0.589915752411	0.51482	T	0.082566	0.36857	T	0.18438	0.72445	D	0.0270728	0.72088	D	0.976729273796082	0.71511	D	0.814719	0.46890	T	0.2817774	0.51219	0.34026957	0.59781	0.2817774	0.51219	0.34026957	0.59780	-3.103	0.11330	T	.	.	0.152	0.34227	B	.;.	.;.	4.025229	0.59480	24.1	0.9976381379179714	0.85254	0.50406	0.28655	D	ALL	0.283999	0.39697	N	0.504485776022766	0.67354	5.070537	0.441328031013534	0.64162	4.665146	0.999999979620124	0.74766	0.266657	0.04791	1	0.218748	0.04544	0	0.519653	0.09787	0	0.249971	0.05119	0	.	.	4.4	3.51	0.39297	1.113000	0.30798	0.782000	0.21490	0.599000	0.40250	1.000000	0.71638	0.997000	0.33255	0.671000	0.33280	0.0:0.8858:0.0:0.1142	7.542	0.26911	521	0.74284	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1680.33	34	chr2	74482155	.	C	A	1680.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=5.47;DP=783;ExcessHet=0;FS=3.003;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.51;ReadPosRankSum=-1.026;SOR=0.879	GT:AD:DP:GQ:PL	0/1:88,58:146:99:1694,0,2075	18	0	1	0
chr2	74532698	74532698	G	A	exonic	HTRA2	.	nonsynonymous SNV	HTRA2:NM_013247:exon7:c.G1195A:p.G399S	3-methylglutaconic aciduria, type VIII, Autosomal recessive	1	1493	26	2	0	30	0.00994695	.	.	.	19380	not_provided|Parkinson_disease_13,_autosomal_dominant,_susceptibility_to	MedGen:C3661900|MONDO:MONDO:0012466,MedGen:C1853202,OMIM:610297,Orphanet:2828	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.788	.	0.0034	0.00359425	0.0044	0.0006	0.0016	0	0.0002	0.0040	0.0044	0.0144	0.0040685	629	154602	rs72470545	0.0040	0.0040	0.0035	0.0044	0.0145	0.0039	0.0038	0.0138	0.0135	0.0007	0.0016	0.0033	5.038e-05	0.0001	0.0080	0.0037	0.0037	0.0145	0.0027	0.0027	0.0025	0.0028	0.0129	0.0024	0.0024	0.0103	0.0094	0.0007	0.0022	0.0019	0.0043	0	9.423e-05	0.0204	0.0038	0.0024	0.0129	0.02	0.49613	D	0.021	0.58089	D	0.986	0.61523	D	0.936	0.67150	D	0.000014	0.62929	D	0.113567	0.999998	0.81001	A	2.31	0.66127	M	-1.95	0.85003	D	-2.13	0.48354	N	0.304	0.34336	0.540	0.91096	D	0.629	0.86985	D	9	0.009953827	0.00223	T	.	.	.	0.788	0.92988	.	.	0.93517315524	0.93450	0.7741013277673383	0.77360	1.36314406624	0.84392	0.395702064037	0.24471	T	0.329495	0.69979	T	-0.107422	0.35194	T	0.0845964	0.75886	D	0.0282974163263637	0.01731	T	0.940906	0.77861	D	0.41837454	0.61984	0.33673406	0.59472	0.41891634	0.62019	0.38411376	0.63359	-8.881	0.66927	D	0.3577732525459057	0.45448	0.263	0.49797	B	.	.	4.882135	0.80076	27.2	0.99865328837292089	0.94366	0.93935	0.59619	D	AEFBHCI	0.871255	0.79257	D	0.625185260027072	0.74771	6.189748	0.564910731327461	0.72443	5.810319	0.99999999520885	0.74766	0.706548	0.73137	0	0.696144	0.67643	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.87	3.99	0.45527	4.924000	0.63118	10.013000	0.83102	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0932:0.0:0.9068:0.0	10.694	0.45085	189	0.92630	PDZ domain|PDZ domain|PDZ 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	0.007049	0.015152	0.001359	0.005848	0.000000	0.000000	0.003049	0.022727	0.02632	1850.33	33	chr2	74532698	.	G	A	1850.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.36;DP=762;ExcessHet=0;FS=0.707;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.42;ReadPosRankSum=1.21;SOR=0.773	GT:AD:DP:GQ:PL	0/1:57,63:120:99:1864,0,1570	18	0	1	0
chr2	84604372	84604372	T	G	exonic	DNAH6	.	nonsynonymous SNV	DNAH6:NM_001370:exon19:c.T2902G:p.L968V	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.389	0.113909208911	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	.	.	.	1.0	0.90584	D	0.991	0.79672	D	.	.	.	.	0.971653	0.25642	N	3.22	0.89398	M	-0.13	0.64818	T	-2.74	0.58248	D	0.471	0.50688	-0.5069	0.68399	T	0.405	0.75515	T	9	0.9050407	0.89868	D	0.113909	0.79257	D	0.389	0.70521	0.85	0.95202	0.605592448911	0.60243	0.45283112225144956	0.45201	0.456204352265	0.45275	0.485704362392	0.36844	T	0.231693	0.59808	T	0.075131	0.61466	D	-0.129856	0.60983	T	0.872982740402222	0.52285	D	0.935406	0.75832	D	0.23091853	0.45854	0.33780658	0.59566	0.23091853	0.45855	0.33780658	0.59566	-11.264	0.81086	D	.	.	0.442	0.61796	A	.;.	.;.	1.597127	0.20419	14.74	0.99464610267651066	0.65996	0.63564	0.32129	D	AEFI	0.144781	0.26783	N	-0.0976268394243894	0.37495	2.182303	-0.281336509459296	0.28712	1.603063	2.1921785181038E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.7	-1.48	0.08286	0.003000	0.12984	-0.142000	0.11507	-0.123000	0.13640	0.808000	0.29825	0.044000	0.21668	0.148000	0.20235	0.0:0.5559:0.0:0.4441	11.850	0.51684	808	0.43318	Dynein heavy chain, domain-2;Dynein heavy chain, domain-2	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1125.33	33	chr2	84604372	.	T	G	1125.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.453;DP=721;ExcessHet=0;FS=4.018;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.23;ReadPosRankSum=-2.853;SOR=0.382	GT:AD:DP:GQ:PL	0/1:49,43:92:99:1139,0,1300	18	0	1	0
chr2	94876587	94876587	C	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C580A:p.L194I,TEKT4:NM_144705:exon6:c.C1126A:p.L376I	.	432	641	448	0	1	449	0.25896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.0024401301091	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs74658435	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.207	0.29891	B	0.092	0.30031	B	0.004769	0.33407	N	0.246841	0.99495	0.23405	N	0.755	0.19153	N	4.47	0.02084	T	0.82	0.01813	N	0.154	0.15888	-0.8811	0.49673	T	0.003	0.01026	T	10	0.04464045	0.03444	T	0.00244	0.04813	T	0.085	0.24743	0.341	0.33302	0.0716867268079	0.06686	0.19181908011527898	0.19099	0.0456283365019	0.04953	0.691997289658	0.65993	T	0.022278	0.17204	T	-0.227197	0.17020	T	-0.564129	0.15990	T	0.118842300974592	0.14317	T	0.485551	0.14815	T	0.08219759	0.18923	0.12475681	0.30067	0.08219759	0.18923	0.12475681	0.30067	-2.689	0.07211	T	.	.	0.085	0.10014	B	.	.	0.349679	0.07231	3.825	0.6655202341939721	0.08092	0.00372	0.01892	N	AEFDGBI	0.024577	0.01544	N	-1.14107701514534	0.05928	0.2715614	-1.13613817439115	0.07019	0.3399133	3.91639178412095E-4	0.06820	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	2.43	1.05	0.19280	-0.335000	0.07917	2.530000	0.33163	0.302000	0.18967	0.001000	0.13787	1.000000	0.68203	0.052000	0.15357	0.3227:0.6773:0.0:0.0	7.455	0.26431	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3158	5735.91	312	chr2	94876587	.	C	A	5735.91	.	AC=12;AF=0.316;AN=38;BaseQRankSum=0.916;DP=3920;ExcessHet=11.1788;FS=8.574;InbreedingCoeff=-0.4693;MLEAC=12;MLEAF=0.316;MQ=58.28;MQRankSum=-15.51;QD=1.91;ReadPosRankSum=-3.532;SOR=1.638	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:230,48:278:99:0|1:94876587_C_A:1324,0,9371:94876587	7	0	12	0
chr2	94876618	94876618	C	G	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C611G:p.A204G,TEKT4:NM_144705:exon6:c.C1157G:p.A386G	.	432	224	865	0	1	866	0.658797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.223	0.00662812679854	.	.	.	.	.	.	.	.	.	.	0.0002781	43	154602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.026	0.55759	D	0.986	0.61523	D	0.919	0.65474	D	0.000066	0.52346	D	0.125962	0.999996	0.58761	D	3.695	0.94570	H	3.93	0.03435	T	-2.62	0.56301	D	0.22	0.24634	-1.1093	0.03130	T	0.045	0.19478	T	10	0.34525645	0.51502	T	0.006628	0.17501	T	0.223	0.52023	0.627	0.76254	0.325533332567	0.32158	0.46843450301837664	0.46762	0.206080854031	0.23033	0.606577515602	0.53832	T	0.278563	0.65122	T	-0.0817015	0.39437	T	-0.355135	0.38615	T	0.993828952312469	0.84790	D	0.723528	0.33695	T	0.19832417	0.41730	0.4733884	0.69475	0.19832417	0.41730	0.4733884	0.69476	-7.747	0.59334	D	.	.	0.123	0.25656	B	.	.	3.340079	0.46023	22.2	0.99465032145053101	0.65996	0.46731	0.27825	N	AEFDGBI	0.300572	0.40933	N	0.291003033652373	0.55691	3.733242	0.0724350553839575	0.43168	2.624199	0.878548229655452	0.25568	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	2.43	0.28797	3.467000	0.52842	4.098000	0.41847	0.302000	0.18967	0.053000	0.21524	0.999000	0.35428	0.607000	0.31564	0.0:1.0:0.0:0.0	10.548	0.44261	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3947	26792.8	425	chr2	94876618	.	C	G	26792.8	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-2.341;DP=5489;ExcessHet=20.8569;FS=1.497;InbreedingCoeff=-0.6522;MLEAC=15;MLEAF=0.395;MQ=57.4;MQRankSum=-17.98;QD=5.28;ReadPosRankSum=-2.883;SOR=0.85	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:278,101:379:99:0|1:94876587_C_A:3404,0,11369:94876587	4	0	15	0
chr2	94876632	94876632	C	T	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C625T:p.R209C,TEKT4:NM_144705:exon6:c.C1171T:p.R391C	.	431	192	898	1	0	900	0.700935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	0.00282003103799	.	.	0.0020	0.0044	0.0012	0.0058	0	0.0016	0.0025	0.0012	0.00073	19	26028	rs72817671	5.478e-06	9.577e-06	5.451e-06	5.507e-06	7.196e-06	2.36e-06	1.7e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.196e-06	0	0	2.629e-05	2.627e-05	1.285e-05	4.036e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0	0	0	2.94e-05	0	0.0002	0.078	0.33923	T	0.094	0.39645	T	0.048	0.22112	B	0.017	0.18140	B	0.104906	0.19681	N	0.502966	0.998961	0.45775	D	2.51	0.73131	M	4.19	0.02716	T	-4.17	0.75456	D	0.327	0.36779	-0.9567	0.39789	T	0.009	0.03315	T	10	0.010076523	0.00226	T	0.00282	0.05898	T	0.180	0.45073	.	.	0.280181792013	0.27631	0.3283832477789456	0.32751	0.0418521914883	0.04503	0.566292226315	0.48154	T	0.161975	0.50645	T	-0.0952065	0.37216	T	-0.374534	0.36360	T	0.0299758459612643	0.01985	T	0.763824	0.39073	T	0.11296644	0.26684	0.099358894	0.23720	0.11296644	0.26684	0.099358894	0.23719	-7.259	0.55903	T	.	.	0.087	0.11414	B	.	.	2.884469	0.38179	20.7	0.9739629417086707	0.33750	0.03769	0.09084	N	AEFDGBI	0.024782	0.01590	N	-0.521150392773251	0.21396	1.135229	-0.512733045882346	0.21807	1.181449	3.92921537291663E-4	0.06820	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	1.05	0.19280	0.158000	0.16239	-0.300000	0.10122	0.302000	0.18967	0.046000	0.21249	0.000000	0.08366	0.706000	0.34326	0.5496:0.4504:0.0:0.0	6.095	0.19238	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.015609	0.035354	0.004076	0.005848	0.000000	0.008621	0.033537	0.018939	0.4474	37055.9	473	chr2	94876632	.	C	T	37055.9	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-5.11;DP=6526;ExcessHet=31.086;FS=0;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=57.07;MQRankSum=-18.76;QD=5.89;ReadPosRankSum=-1.429;SOR=0.593	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:296,131:427:99:0|1:94876587_C_A:4558,0,11939:94876587	2	0	17	0
chr2	94876671	94876671	A	G	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.A664G:p.I222V,TEKT4:NM_144705:exon6:c.A1210G:p.I404V	.	425	183	912	2	0	916	0.714509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.00380674609401	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs142133592	3.422e-06	3.42e-06	4.086e-06	2.751e-06	3.597e-06	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.597e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.044	0.49663	D	0.967	0.56408	D	0.77	0.56828	P	0.000003	0.62929	D	0.059094	0.999993	0.58761	D	2.465	0.71551	M	3.8	0.03781	T	-0.93	0.24898	N	0.355	0.39659	-1.1543	0.00903	T	0.035	0.15030	T	10	0.2894683	0.46528	T	0.003807	0.08899	T	0.186	0.46104	.	.	0.0716867268079	0.06686	0.38576410498893454	0.38491	0.041304716601	0.04434	0.519737362862	0.41590	T	0.070106	0.33877	T	-0.102007	0.36092	T	-0.384302	0.35219	T	0.773092746734619	0.44626	D	0.518148	0.16784	T	0.11624111	0.27419	0.19920714	0.43791	0.11624111	0.27418	0.19920714	0.43790	-6.086	0.46993	T	.	.	0.080	0.07650	B	.	.	2.197892	0.28028	17.66	0.99758744490040718	0.84851	0.77619	0.38185	D	AEFDGBI	0.245424	0.36636	N	0.178097147237031	0.50149	3.207675	0.0117110839863197	0.40257	2.399706	0.274437957628434	0.18925	0.646311	0.45356	0	0.626922	0.53725	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	2.43	0.28797	2.475000	0.44821	2.894000	0.35409	0.373000	0.20310	0.967000	0.34061	1.000000	0.68203	0.500000	0.29017	1.0:0.0:0.0:0.0	8.354	0.31480	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	43084.9	563	chr2	94876671	.	A	G	43084.9	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-7.332;DP=7395;ExcessHet=31.086;FS=1.384;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=56.94;MQRankSum=-20.34;QD=5.94;ReadPosRankSum=4.74;SOR=0.584	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:322,147:469:99:0|1:94876671_A_G:5203,0,13029:94876671	2	0	17	0
chr2	94876674	94876674	G	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.G667A:p.A223T,TEKT4:NM_144705:exon6:c.G1213A:p.A405T	.	426	179	915	2	0	919	0.719655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	.	.	0.0115815	0.0037	0.0032	0.0047	0.0156	0.0008	0.0021	0.0047	0.0045	0.0058783	153	26028	rs75603622	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.30375	T	0.267	0.22561	T	0.003	0.11197	B	0.013	0.16460	B	0.039834	0.24126	N	0.433987	0.997095	0.22793	N	3.49	0.92661	M	4.15	0.02815	T	-1.68	0.40082	N	0.141	0.14054	-0.9396	0.42679	T	0.013	0.04985	T	10	0.0041491687	0.00082	T	.	.	.	0.156	0.40720	.	.	0.117506650769	0.11410	0.2704892680538193	0.26961	0.0299475133996	0.03088	0.393358677626	0.24142	T	0.056124	0.30199	T	-0.161562	0.26520	T	-0.469849	0.25532	T	0.0468978844343634	0.04948	T	0.689731	0.29897	T	0.042698704	0.06523	0.104346365	0.25059	0.042698704	0.06523	0.104346365	0.25058	-4.749	0.33991	T	.	.	0.081	0.08129	B	.	.	1.062693	0.14447	11.02	0.91920144370954304	0.21243	0.00957	0.03676	N	AEFDGBI	0.022506	0.01133	N	-1.17567910300973	0.05369	0.2445992	-1.31751710428587	0.04204	0.1977864	0.0017749666691999	0.08872	0.646311	0.45356	0	0.626922	0.53725	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	-2.21	0.06581	0.036000	0.13706	2.580000	0.33410	-0.673000	0.04287	0.001000	0.13787	0.571000	0.25572	0.394000	0.26647	0.1368:0.0:0.6998:0.1633	6.926	0.23596	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012588	0.025253	0.002717	0.011696	0.000000	0.000000	0.021341	0.018939	0.4474	46132.9	570	chr2	94876674	.	G	A	46132.9	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-7.405;DP=7437;ExcessHet=31.086;FS=0.657;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=56.92;MQRankSum=-20.34;QD=6.34;ReadPosRankSum=4.97;SOR=0.601	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:325,147:472:99:0|1:94876671_A_G:5194,0,13111:94876671	2	0	17	0
chr2	94876731	94876731	C	T	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C724T:p.R242C,TEKT4:NM_144705:exon6:c.C1270T:p.R424C	.	422	173	925	2	0	929	0.728627	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.0041459355799	.	0.000199681	0.0026	0.0055	0.0008	0.0029	0.0009	0.0031	0.0024	0.0009	0.0016136	42	26028	rs1052809	2.266e-05	4.721e-05	2.05e-05	2.484e-05	0.0002	1.616e-05	1.421e-05	7.131e-05	5.487e-05	5.977e-05	6.711e-05	0	0	0	0.0002	9.902e-06	8.287e-05	0.0001	6.572e-06	6.567e-06	0	1.345e-05	6.545e-05	0	0	.	.	0	0	6.545e-05	0	0	0	0	0	0	0	0.103	0.30097	T	0.066	0.44501	T	0.572	0.38625	P	0.148	0.34065	B	0.002019	0.37457	N	0.261531	0.999997	0.58761	D	1.775	0.45938	L	4.11	0.02916	T	-4.13	0.75139	D	0.316	0.35620	-0.8786	0.49872	T	0.010	0.03856	T	10	0.01365149	0.00289	T	0.004146	0.09931	T	0.132	0.35948	.	.	0.491455083755	0.48780	0.5777951626377072	0.57708	0.0586537782296	0.06507	0.432330518961	0.29528	T	0.138567	0.47212	T	-0.133279	0.30966	T	-0.429223	0.30023	T	0.0535928154404934	0.06120	T	0.627737	0.24333	T	0.19040447	0.40625	0.158895	0.37084	0.19040447	0.40624	0.158895	0.37084	-4.535	0.31344	T	.	.	0.086	0.10883	B	.	.	2.921119	0.38776	20.8	0.98416532006618407	0.41234	0.09068	0.14897	N	AEFDGBI	0.064399	0.12503	N	-0.384009387342546	0.26038	1.418045	-0.456280458516489	0.23371	1.274154	0.0109668901558148	0.12109	0.646311	0.45356	0	0.844039	0.99811	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	2.43	0.28797	1.541000	0.35732	0.966000	0.23025	0.302000	0.18967	0.091000	0.22601	0.000000	0.08366	0.392000	0.26603	0.0:1.0:0.0:0.0	10.548	0.44261	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.045317	0.136364	0.005435	0.035088	0.000000	0.043103	0.076220	0.030303	0.4211	17880.0	561	chr2	94876731	.	C	T	17880.0	.	AC=16;AF=0.421;AN=38;BaseQRankSum=-2.372;DP=6867;ExcessHet=25.4433;FS=3.492;InbreedingCoeff=-0.7272;MLEAC=16;MLEAF=0.421;MQ=57.57;MQRankSum=-19.85;QD=2.71;ReadPosRankSum=-1.021;SOR=1.026	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:323,93:416:99:.:.:1947,0,8272:.	3	0	16	0
chr2	94876737	94876737	C	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C730A:p.P244T,TEKT4:NM_144705:exon6:c.C1276A:p.P426T	.	420	623	478	1	0	480	0.2781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.305	0.00856323149497	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.49	0.72568	M	4.16	0.02791	T	-6.15	0.90178	D	0.449	0.48689	-1.1193	0.02376	T	0.028	0.11926	T	10	0.86077964	0.85296	D	0.008563	0.22631	T	0.305	0.62620	0.82	0.93328	0.439763647824	0.43599	0.7402352279972402	0.73968	0.238822044954	0.26437	0.431803226471	0.29455	T	0.211342	0.57208	T	-0.00288391	0.51258	T	-0.241919	0.50610	T	0.997360169887543	0.91383	D	0.868613	0.57103	D	0.468639	0.65206	0.43668678	0.67113	0.468639	0.65207	0.43668678	0.67113	-9.492	0.70809	D	.	.	0.247	0.48188	B	.	.	3.384766	0.46838	22.4	0.99756532367682871	0.84694	0.76429	0.37483	D	AEFDGBI	0.183688	0.31101	N	0.284556175349996	0.55366	3.700636	0.149238450167121	0.47101	2.945506	0.878548229655452	0.25568	0.646311	0.45356	0	0.844039	0.99811	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	2.43	0.28797	3.367000	0.52075	5.126000	0.47622	0.302000	0.18967	1.000000	0.71638	1.000000	0.68203	0.409000	0.26983	0.0:1.0:0.0:0.0	10.548	0.44261	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1842	5398.38	564	chr2	94876737	.	C	A	5398.38	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-3.203;DP=3835;ExcessHet=2.9153;FS=1.937;InbreedingCoeff=-0.2258;MLEAC=7;MLEAF=0.184;MQ=57.27;MQRankSum=-14.34;QD=1.77;ReadPosRankSum=-2.14;SOR=1.021	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:386,33:419:99:0|1:94876737_C_A:222,0,15931:94876737	12	0	7	0
chr2	94876740	94876740	A	C	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.A733C:p.T245P,TEKT4:NM_144705:exon6:c.A1279C:p.T427P	.	420	617	484	1	0	486	0.282558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.00171498663639	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.114	0.36765	T	0.125	0.26866	B	0.085	0.29395	B	0.131368	0.18625	N	0.557409	0.999999	0.08975	N	1.955	0.52871	M	4.2	0.02689	T	-3.07	0.63207	D	0.235	0.26475	-0.9960	0.31028	T	0.012	0.04558	T	10	0.1880475	0.34342	T	0.001715	0.02856	T	0.095	0.27398	0.692	0.82938	0.242825505644	0.23883	0.760572030042999	0.76005	0.0377657102004	0.04010	0.42577329278	0.28630	T	0.133664	0.46448	T	-0.179838	0.23760	T	-0.496102	0.22753	T	0.267470479011536	0.23639	T	0.608739	0.23025	T	0.12824208	0.29987	0.113306135	0.27344	0.12824208	0.29987	0.113306135	0.27344	-6.544	0.50625	T	.	.	0.070	0.03552	B	.	.	1.347397	0.17547	13.23	0.9830799806719418	0.40116	0.00645	0.02815	N	AEFDGBI	0.062337	0.11976	N	-0.575656789009934	0.19685	1.032239	-0.641925779952209	0.18420	0.9839579	4.74237286387209E-4	0.07095	0.646311	0.45356	0	0.844039	0.99811	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	1.2	0.20181	-0.628000	0.05611	0.633000	0.20247	0.373000	0.20310	0.000000	0.06391	0.002000	0.18203	0.392000	0.26603	0.5413:0.283:0.1757:0.0	2.624	0.04627	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1842	5526.38	560	chr2	94876740	.	A	C	5526.38	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-2.091;DP=3824;ExcessHet=2.9153;FS=1.93;InbreedingCoeff=-0.2258;MLEAC=7;MLEAF=0.184;MQ=57.4;MQRankSum=-14.25;QD=1.84;ReadPosRankSum=-2.05;SOR=0.992	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:375,33:408:99:0|1:94876737_C_A:255,0,15545:94876737	12	0	7	0
chr2	95855390	95855390	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5969G:p.N1990S	.	445	446	628	3	0	634	0.415465	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	.	.	.	0.4725	0.4791	0.4803	0.4672	0.4880	0.4733	0.4644	0.4563	0.0898263	2338	26028	rs5005871	6.166e-06	8.414e-05	8.18e-06	4.132e-06	1.162e-05	2.9e-06	2.1e-06	.	.	0	0	0	0	0.0002	0	0	0	1.162e-05	8.21e-05	0.0014	8.013e-05	8.417e-05	0.0001	4.669e-05	3.648e-05	4.891e-05	3.155e-05	0.0001	0	0.0001	0	0	0.0003	0	3.041e-05	0	0	0.015	0.52492	D	0.034	0.52727	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.56	0.13673	T	-1.08	0.28084	N	0.033	0.00882	-0.9453	0.41764	T	0.020	0.08266	T	7	0.002589792	0.00039	T	.	.	.	0.055	0.15663	.	.	.	.	0.012446412429317067	0.01203	.	.	.	.	.	0.01031	0.09320	T	-0.355653	0.04382	T	-0.748648	0.03539	T	0.0108537478151246	0.00155	T	0.411359	0.10665	T	0.03944852	0.05450	0.041137557	0.04607	0.03944852	0.05449	0.041137557	0.04607	-4.418	0.29800	T	.	.	0.294	0.52491	B	.	.	0.798647	0.11694	8.273	0.5612225942636786	0.05485	0.02449	0.06892	N	AEFI	0.055298	0.10127	N	-1.21497369849486	0.04782	0.2165626	-1.43546346583335	0.02904	0.1344849	0.00116623651718095	0.08293	0.656854	0.48797	0	0.653731	0.59785	0	0.565031	0.19037	0	0.699908	0.69081	0	.	.	2.64	-5.28	0.02543	0.547000	0.23007	-2.563000	0.03605	-0.638000	0.04459	0.451000	0.26573	0.000000	0.08366	0.008000	0.08271	0.3266:0.1273:0.3289:0.2173	0.771	0.00959	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	25429.3	297	chr2	95855390	.	T	C	25429.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=3.2;DP=4819;ExcessHet=48.2876;FS=21.823;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=55.65;MQRankSum=-11.56;QD=5.47;ReadPosRankSum=-6.798;SOR=2.121	GT:AD:DP:GQ:PL	0/1:198,84:282:99:1946,0,5638	0	0	19	0
chr2	95855549	95855549	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5810G:p.N1937S	.	442	278	792	10	0	812	0.593567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	.	.	0.4955	0.4792	0.5	0.4994	0.4998	0.4950	0.4987	0.4997	0.0874443	2276	26028	rs5005869	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	6.573e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.296	0.14694	T	0.507	0.10930	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.62	0.12988	T	-0.23	0.10656	N	0.021	0.00339	-0.9299	0.44153	T	0.011	0.04088	T	7	0.0016410053	0.00020	T	.	.	.	0.027	0.05988	.	.	.	.	0.0144060030913769	0.01397	.	.	.	.	.	0.002	0.01223	T	-0.411715	0.01936	T	-0.829176	0.01277	T	0.00502627076001595	0.00054	T	0.545645	0.18668	T	0.016608926	0.00209	0.02213417	0.00245	0.016608926	0.00209	0.02213417	0.00245	-4.21	0.26896	T	.	.	0.100	0.17060	B	.	.	-0.269215	0.02755	0.369	0.23312518342213173	0.00979	0.00866	0.03436	N	AEFI	0.023348	0.01289	N	-1.09098549269488	0.06808	0.3144812	-1.2104876692623	0.05741	0.2743807	9.86009276359309E-6	0.01202	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	-0.838	0.10218	0.492000	0.22144	-6.933000	0.01270	0.312000	0.19173	0.073000	0.22155	0.000000	0.08366	0.002000	0.04165	0.0:0.3513:0.0:0.6487	6.069	0.19105	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	60963.4	298	chr2	95855549	.	T	C	60963.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-4.128;DP=6596;ExcessHet=48.2876;FS=13.468;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=44.36;MQRankSum=-12.9;QD=9.49;ReadPosRankSum=0.896;SOR=1.314	GT:AD:DP:GQ:PL	0/1:195,186:381:99:4272,0,5376	0	0	19	0
chr2	95855576	95855576	A	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.T5783C:p.I1928T	.	453	483	584	2	0	588	0.378378	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	.	.	.	0.0351	0.0714	0.0215	0.0369	0.0035	0.0411	0.0420	0.0134	0.0472952	1231	26028	rs5005868	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0002	0.0003	0.0003	8.988e-05	0	0	0	0	0	0.0004	0.0001	0	0.0001	0.0001	0.0002	8.079e-05	0.0002	8.674e-05	7.264e-05	0.0001	9.902e-05	0.0001	0	0	0	0	0	0	0.0002	0	0	0.061	0.37118	T	0.076	0.42614	T	.	.	.	.	.	.	.	.	.	.	0.999854	0.20048	N	.	.	.	2.41	0.15492	T	-2.88	0.60507	D	0.111	0.09772	-1.0255	0.21919	T	0.039	0.16634	T	7	0.0018533468	0.00025	T	.	.	.	0.016	0.02506	.	.	.	.	0.019306205368593718	0.01884	.	.	.	.	.	0.00751	0.06912	T	-0.24663	0.14515	T	-0.592043	0.13489	T	0.0121704833066968	0.00195	T	0.355564	0.08068	T	0.13378952	0.31107	0.17544822	0.40011	0.13378952	0.31107	0.17544822	0.40010	-5.456	0.41455	T	.	.	0.137	0.29914	B	.	.	2.390189	0.30693	18.52	0.99376893328488414	0.61715	0.31313	0.24306	N	AEFI	0.047864	0.08107	N	-0.41657885139222	0.24888	1.347055	-0.520845466279587	0.21587	1.168515	1.17212494177188E-4	0.05269	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	2.11	0.26299	1.107000	0.30724	-0.057000	0.12472	0.351000	0.19951	0.797000	0.29682	0.000000	0.08366	0.192000	0.21661	1.0:0.0:0.0:0.0	8.115	0.30096	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	48661.4	222	chr2	95855576	.	A	G	48661.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-3.413;DP=5637;ExcessHet=48.2876;FS=28.241;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=46.08;MQRankSum=-12.28;QD=8.91;ReadPosRankSum=-3.201;SOR=1.955	GT:AD:DP:GQ:PL	0/1:194,128:322:99:3814,0,5595	0	0	19	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	.	.	.	.	.	.	.	.	0.3421	5066.16	228	chr2	95855586	.	T	C	5066.16	.	AC=13;AF=0.342;AN=38;BaseQRankSum=0.521;DP=5385;ExcessHet=13.8672;FS=16.143;InbreedingCoeff=-0.5518;MLEAC=13;MLEAF=0.342;MQ=47.07;MQRankSum=-6.648;QD=1.42;ReadPosRankSum=-2.146;SOR=2.347	GT:AD:DP:GQ:PL	0/1:266,55:321:99:742,0,10123	6	0	13	0
chr2	95855588	95855588	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5771G:p.Q1924R	.	449	591	480	2	0	484	0.290516	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	.	.	0.0306	0.0658	0.0188	0.0337	0.0028	0.0359	0.0324	0.0111	0.0379591	988	26028	rs5005867	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	0.22833	T	0.311	0.19660	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.4	0.15608	T	-2.4	0.52776	N	0.054	0.02559	-0.9776	0.35548	T	0.023	0.09968	T	7	0.004524857	0.00093	T	.	.	.	0.035	0.08770	.	.	.	.	0.014319341971499302	0.01388	.	.	.	.	.	0.034191	0.23222	T	-0.342862	0.05192	T	-0.730274	0.04316	T	0.0218009842485075	0.00887	T	0.374863	0.08927	T	0.052712794	0.09870	0.11261669	0.27173	0.052712794	0.09870	0.11261669	0.27172	-5.986	0.46163	T	.	.	0.14	0.30686	B	.	.	1.453026	0.18743	13.90	0.88078949201552847	0.17700	0.32438	0.24585	N	AEFI	0.045481	0.07443	N	-0.542064366665841	0.20732	1.095167	-0.636773118221108	0.18551	0.9915041	9.62839158373236E-6	0.01202	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	0.82	0.17932	2.106000	0.41459	0.119000	0.14890	-0.667000	0.04321	1.000000	0.71638	0.000000	0.08366	0.084000	0.17470	0.0:0.1714:0.2923:0.5363	2.541	0.04438	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	36166.4	226	chr2	95855588	.	T	C	36166.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-3.66;DP=5339;ExcessHet=48.2876;FS=33.512;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=47.33;MQRankSum=-11.31;QD=6.95;ReadPosRankSum=-3.814;SOR=2.254	GT:AD:DP:GQ:PL	0/1:205,111:316:99:3124,0,5969	0	0	19	0
chr2	95859895	95859895	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.A4960G:p.T1654A	.	951	467	84	20	0	124	0.117202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	.	.	0.4444	0.4790	0.4373	0.4517	0.4253	0.4197	0.4345	0.4715	0.0150223	391	26028	rs75198192	4.293e-06	9.85e-05	5.648e-06	2.901e-06	2.806e-05	1.54e-06	1.02e-06	.	.	0	2.806e-05	0	0	4.058e-05	0	0	5.178e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.35165	T	0.222	0.25748	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999981	0.18198	N	.	.	.	2.33	0.16492	T	-0.27	0.11366	N	0.03	0.00717	-0.9918	0.32141	T	0.020	0.08593	T	9	0.0021876395	0.00032	T	.	.	.	0.035	0.08770	.	.	.	.	0.004573925157677656	0.00430	.	.	0.524144649506	0.42211	T	0.007589	0.06987	T	-0.275691	0.11129	T	-0.633787	0.10130	T	0.00243692789656227	0.00025	T	0.119888	0.00926	T	0.026656736	0.01750	0.04326469	0.05342	0.026656736	0.01750	0.04326469	0.05342	-4.496	0.30836	T	.	.	0.118	0.24260	B	.	.	1.595165	0.20400	14.73	0.67616785214816144	0.08408	0.26935	0.23135	N	AEFI	0.048105	0.08173	N	-0.927352117069161	0.10206	0.4865986	-0.909991846583639	0.11858	0.6066753	7.95608252575671E-5	0.04552	0.632932	0.41330	0	0.666794	0.63253	0	0.657636	0.52715	0	0.755437	0.99637	0	.	.	1.85	1.85	0.24418	0.945000	0.28654	2.286000	0.31928	-0.387000	0.05364	0.808000	0.29825	0.078000	0.22336	0.001000	0.02609	0.0:0.0:0.0:1.0	7.648	0.27501	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3421	4805.56	85	chr2	95859895	.	T	C	4805.56	.	AC=13;AF=0.342;AN=38;BaseQRankSum=0.153;DP=1801;ExcessHet=13.8672;FS=0;InbreedingCoeff=-0.5223;MLEAC=13;MLEAF=0.342;MQ=58.06;MQRankSum=-0.944;QD=3.74;ReadPosRankSum=0.717;SOR=0.594	GT:AD:DP:GQ:PL	0/1:79,25:104:99:674,0,3222	6	0	13	0
chr2	95859969	95859969	-	T	exonic	ANKRD36C	.	frameshift insertion	ANKRD36C:NM_001310154:exon82:c.4885_4886insA:p.L1629Hfs*4	.	952	362	155	53	0	261	0.264975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4228	0.4631	0.4656	0.4778	0.3159	0.4147	0.4099	0.4349	0.0494083	1286	26028	rs111957693	5.008e-06	5.814e-05	5.648e-06	4.351e-06	.	2.08e-06	1.34e-06	.	.	0	0	0	0	0.0001	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	29493.3	133	chr2	95859969	.	A	AT	29493.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.426;DP=2924;ExcessHet=48.2876;FS=5.557;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.87;MQRankSum=-8.967;QD=10.26;ReadPosRankSum=0.47;SOR=0.821	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:109,57:166:99:0|1:95859969_A_AT:2037,0,4385:95859969	0	0	19	0
chr2	95859970	95859970	G	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.C4885A:p.L1629M	.	957	355	157	53	0	263	0.270298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	.	.	.	0.4545	0.4802	0.4743	0.4840	0.3659	0.4484	0.4515	0.4666	0.0009221	24	26028	rs77057279	9.318e-06	0.0001	7.073e-06	1.162e-05	.	5.2e-06	4.01e-06	.	.	0	0	0	0	0.0003	0	0	0	0	0	2.631e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.911	0.02361	T	0.243	0.24193	T	0.053	0.22573	B	0.021	0.19346	B	.	.	.	.	0.994063	0.23594	N	.	.	.	2.42	0.15376	T	1.44	0.00794	N	0.079	0.05414	-0.9807	0.34840	T	0.008	0.02801	T	9	0.0015536547	0.00018	T	.	.	.	0.028	0.06331	.	.	.	.	0.0034729447233706272	0.00324	.	.	0.598522663116	0.52695	T	0.002815	0.02207	T	-0.296982	0.08946	T	-0.664371	0.07975	T	0.000298728606434334	0.00002	T	0.227477	0.03026	T	0.060971648	0.12573	0.043196924	0.05321	0.060971648	0.12573	0.043196924	0.05321	-3.51	0.16572	T	.	.	0.079	0.07224	B	.	.	-0.617261	0.01525	0.098	0.057558437599456599	0.00015	0.02138	0.06301	N	AEFI	0.027961	0.02376	N	-1.81372414748207	0.00512	0.02205084	-1.77419214230889	0.00845	0.0377715	9.60209616443048E-5	0.04910	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	-3.7	0.04150	-1.387000	0.02641	-5.763000	0.01604	-0.394000	0.05329	0.245000	0.24799	0.000000	0.08366	0.008000	0.08271	0.2827:0.0:0.3453:0.372	3.712	0.07953	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	29433.3	135	chr2	95859970	.	G	T	29433.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-0.157;DP=2921;ExcessHet=48.2876;FS=5.557;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.87;MQRankSum=-9.055;QD=10.21;ReadPosRankSum=0.274;SOR=0.832	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:109,57:166:99:0|1:95859969_A_AT:2037,0,4385:95859969	0	0	19	0
chr2	95859975	95859975	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.G4880A:p.R1627Q	.	957	354	158	53	0	264	0.271605	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	.	.	.	0.4301	0.4670	0.4743	0.4733	0.3036	0.4236	0.4062	0.4476	0.00073	19	26028	rs77757712	2.22e-05	6.841e-05	2.827e-05	1.597e-05	8.413e-05	1.591e-05	1.386e-05	2.23e-05	1.218e-05	3.172e-05	8.413e-05	0	0	6.31e-05	0	1.855e-05	1.726e-05	3.789e-05	1.316e-05	1.971e-05	1.286e-05	1.348e-05	6.563e-05	2.19e-06	8.2e-07	.	.	0	0	6.563e-05	0	0	0	0	1.471e-05	0	0	0.162	0.23541	T	0.485	0.11725	T	0.055	0.22733	B	0.007	0.12992	B	.	.	.	.	0.999977	0.18612	N	.	.	.	2.42	0.15376	T	-0.1	0.08495	N	0.04	0.01347	-0.9474	0.41414	T	0.010	0.03492	T	9	0.0016048849	0.00019	T	.	.	.	0.036	0.09122	.	.	.	.	0.007547077727271438	0.00720	.	.	0.508793115616	0.40052	T	0.002443	0.01836	T	-0.329346	0.06161	T	-0.710859	0.05250	T	0.00527709899755481	0.00057	T	0.480052	0.14488	T	0.032344773	0.03241	0.03586384	0.02919	0.032344773	0.03241	0.03586384	0.02918	-4.415	0.29759	T	.	.	0.069	0.03231	B	.	.	0.983069	0.13607	10.14	0.66913885358475289	0.08199	0.01513	0.05000	N	AEFI	0.023495	0.01318	N	-1.4910599935179	0.01913	0.08394092	-1.36789013472358	0.03599	0.1682304	1.02737162787131E-5	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	0.634	0.16889	0.827000	0.27075	-0.579000	0.08386	-0.398000	0.05312	0.991000	0.37257	0.000000	0.08366	0.005000	0.06747	0.0:0.1617:0.0:0.8383	5.605	0.16657	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	29033.3	133	chr2	95859975	.	C	T	29033.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-0.208;DP=2893;ExcessHet=48.2876;FS=5.618;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.84;MQRankSum=-9;QD=10.11;ReadPosRankSum=0.168;SOR=0.908	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:111,57:168:99:0|1:95859969_A_AT:2039,0,4441:95859969	0	0	19	0
chr2	95859988	95859988	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.A4867G:p.R1623G	.	946	377	143	56	0	255	0.252725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	.	.	.	0.3985	0.4181	0.4615	0.4624	0.2601	0.3839	0.3829	0.4293	0.0005763	15	26028	rs78585559	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.44029	D	0.037	0.51737	D	0.618	0.39878	P	0.296	0.40883	B	.	.	.	.	1	0.08975	P	.	.	.	2.35	0.16217	T	-2.17	0.49018	N	0.036	0.01068	-1.0403	0.17223	T	0.022	0.09284	T	8	0.0021658242	0.00031	T	.	.	.	0.031	0.07369	.	.	.	.	0.01648333609809802	0.01603	.	.	0.464800566435	0.33968	T	0.014368	0.12243	T	-0.283116	0.10340	T	-0.644453	0.09348	T	0.0103390599998185	0.00141	T	0.690331	0.29972	T	0.11867667	0.27957	0.10622412	0.25550	0.11867667	0.27957	0.10622412	0.25549	-4.221	0.27055	T	.	.	0.167	0.36712	B	.	.	1.395340	0.18086	13.54	0.66348352263891242	0.08032	0.01091	0.04015	N	AEFI	0.037962	0.05300	N	-0.829849498643622	0.12552	0.6125249	-0.95288899799542	0.10856	0.5494909	1.69149918813486E-5	0.02871	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	1.85	0.24418	-0.401000	0.07293	-0.372000	0.09600	0.443000	0.21123	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.2013:0.0:0.7987	3.593	0.07545	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	26746.3	132	chr2	95859988	.	T	C	26746.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=0.252;DP=2861;ExcessHet=48.2876;FS=6.76;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.72;MQRankSum=-8.913;QD=9.48;ReadPosRankSum=-0.496;SOR=1.161	GT:AD:DP:GQ:PL	0/1:117,54:171:99:1876,0,3081	0	0	19	0
chr2	95860002	95860002	T	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.A4853T:p.H1618L	.	945	422	104	51	0	206	0.19619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	.	.	.	0.2918	0.3574	0.4353	0.4062	0.1258	0.3207	0.2719	0.2565	0.0003842	10	26028	rs76379993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.73	0.05165	T	0.898	0.49442	P	0.775	0.57058	P	.	.	.	.	1	0.08975	P	.	.	.	2.2	0.18570	T	-7.35	0.94620	D	0.157	0.16308	-0.9983	0.30395	T	0.066	0.27087	T	8	0.0024163425	0.00036	T	.	.	.	0.098	0.28162	.	.	.	.	0.011885642134936694	0.01148	.	.	0.603820681572	0.53443	T	0.17093	0.51885	T	-0.130986	0.31337	T	-0.425929	0.30399	T	0.0896707485037565	0.11179	T	0.667933	0.27701	T	0.5114563	0.67764	0.4059057	0.64978	0.5114563	0.67765	0.4059057	0.64978	-5.063	0.37516	T	.	.	0.223	0.45409	B	.	.	1.545032	0.19810	14.45	0.68803435199818186	0.08772	0.02181	0.06385	N	AEFI	0.047683	0.08056	N	-0.541266882709805	0.20758	1.096673	-0.816850501380551	0.14087	0.7342697	9.81280304122205E-6	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	-0.873	0.10096	1.014000	0.29553	0.760000	0.21307	0.443000	0.21123	0.026000	0.20160	0.002000	0.18203	0.026000	0.12556	0.2602:0.3442:0.0:0.3955	2.065	0.03383	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	18752.3	122	chr2	95860002	.	T	A	18752.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.06;DP=2730;ExcessHet=48.2876;FS=6.113;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.68;MQRankSum=-8.443;QD=6.95;ReadPosRankSum=-0.759;SOR=1.204	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:129,43:172:99:.:.:777,0,5063:.	0	0	19	0
chr2	95860007	95860007	A	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.T4848A:p.D1616E	.	965	351	153	53	0	259	0.269511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	.	.	.	0.3716	0.3968	0.4638	0.4468	0.1996	0.3624	0.3348	0.3997	0.000461	12	26028	rs77658288	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	0.42199	D	0.887	0.03161	T	0.886	0.48745	P	0.685	0.53610	P	.	.	.	.	1	0.08975	P	.	.	.	2.36	0.16089	T	0.87	0.01688	N	0.018	0.00252	-1.0311	0.20099	T	0.037	0.16116	T	8	0.0017204583	0.00022	T	.	.	.	0.058	0.16647	0.102	0.01589	.	.	0.0016336715894167176	0.00151	.	.	0.627778291702	0.56830	T	0.00182	0.01242	T	-0.339353	0.05432	T	-0.725233	0.04547	T	0.0127801602154166	0.00217	T	0.50325	0.15827	T	0.05346143	0.10121	0.066788726	0.13731	0.05346143	0.10121	0.066788726	0.13730	-4.052	0.24579	T	.	.	0.276	0.50970	B	.	.	0.679021	0.10477	7.192	0.92075444711269228	0.21422	0.00300	0.01598	N	AEFI	0.017840	0.00496	N	-0.631580650889932	0.18000	0.9310604	-0.811362641984672	0.14221	0.7419123	9.14715249298931E-6	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	0.608	0.16746	-0.101000	0.10943	-4.154000	0.02312	0.333000	0.19617	0.036000	0.20778	0.000000	0.08366	0.028000	0.12845	0.5619:0.0:0.0:0.4381	4.768	0.12514	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	23267.3	119	chr2	95860007	.	A	T	23267.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.68;DP=2659;ExcessHet=48.2876;FS=7.204;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.65;MQRankSum=-8.406;QD=8.8;ReadPosRankSum=-1.07;SOR=1.213	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:120,49:169:99:.:.:1696,0,4816:.	0	0	19	0
chr2	95860020	95860020	G	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.C4835T:p.T1612I	.	975	346	149	52	0	253	0.267725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	.	.	.	0.3429	0.4093	0.4357	0.4212	0.1584	0.3445	0.2982	0.3516	0.0003842	10	26028	rs78780931	7.168e-07	5.473e-06	1.415e-06	0	9.285e-07	0	0	.	.	0	0	0	0	0	0	9.285e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999979	0.18612	P	.	.	.	2.38	0.15843	T	3.02	0.00138	N	0.054	0.02559	-0.9370	0.43088	T	0.010	0.03627	T	8	0.0017494261	0.00022	T	.	.	.	0.071	0.20720	.	.	.	.	0.0033875092255602627	0.00316	.	.	0.597990691662	0.52621	T	2.31E-4	0.00048	T	-0.282657	0.10387	T	-0.643793	0.09394	T	0.00465201252591891	0.00050	T	0.257674	0.04066	T	0.036191136	0.04406	0.044979855	0.05950	0.036191136	0.04405	0.044979855	0.05949	-0.577	0.00632	T	.	.	0.124	0.26042	B	.	.	0.379084	0.07510	4.156	0.096937678722497284	0.00105	0.00352	0.01813	N	AEFI	0.013252	0.00170	N	-1.41969246255212	0.02466	0.1089284	-1.29164163050699	0.04543	0.2145151	1.02751695127801E-5	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	0.635	0.16895	2.080000	0.41211	-0.435000	0.09196	-1.105000	0.01501	0.995000	0.38783	0.000000	0.08366	0.000000	0.00833	0.8383:0.0:0.1617:0.0	5.605	0.16657	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	20158.3	113	chr2	95860020	.	G	A	20158.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=0.619;DP=2471;ExcessHet=48.2876;FS=6.268;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.59;MQRankSum=-8.166;QD=8.31;ReadPosRankSum=-1.454;SOR=1.226	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:116,40:156:99:0|1:95860020_G_A:1330,0,4669:95860020	0	0	19	0
chr2	95860023	95860023	A	C	exonic	ANKRD36C	.	stopgain	ANKRD36C:NM_001310154:exon82:c.T4832G:p.L1611X	.	975	348	147	52	0	251	0.265048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3459	0.4102	0.4378	0.4239	0.1587	0.3478	0.2957	0.3558	0.0004226	11	26028	rs74941794	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.64576e-15	0.58761	P	.	.	.	.	.	.	.	.	.	0.039	0.01274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.464733	0.93127	D	0.429781	0.93041	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	5.440231	0.90928	32	0.96148246009950666	0.28859	0.36954	0.25651	N	AEFI	0.088588	0.17958	N	-0.131946649004641	0.36007	2.075519	-0.471627380579264	0.22940	1.248476	9.52799824835323E-6	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	-0.698	0.10713	0.445000	0.21392	-0.434000	0.09203	-1.250000	0.01303	0.993000	0.37899	0.000000	0.08366	0.002000	0.04165	0.6458:0.0:0.3542:0.0	5.748	0.17400	256	0.89942	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	19380.3	111	chr2	95860023	.	A	C	19380.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.39;DP=2404;ExcessHet=48.2876;FS=7.636;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.56;MQRankSum=-8.267;QD=8.09;ReadPosRankSum=-1.399;SOR=1.289	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:114,38:152:99:0|1:95860020_G_A:1252,0,4632:95860020	0	0	19	0
chr2	95860046	95860046	C	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.G4809T:p.K1603N	.	996	348	132	46	0	224	0.243478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	.	.	0.2995	0.4068	0.4155	0.3993	0.0859	0.3214	0.2411	0.2818	0.0869064	2262	26028	rs79908880	2.159e-06	4.789e-06	1.421e-06	2.916e-06	3.19e-05	5.8e-07	1.6e-07	3.1e-07	1.2e-07	3.19e-05	0	0	0	0	0	1.863e-06	0	0	1.972e-05	1.97e-05	2.57e-05	1.346e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0	0	0	2.94e-05	0	0	0.767	0.03412	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	P	.	.	.	2.33	0.16492	T	1.87	0.00472	N	0.043	0.01577	-0.9644	0.38330	T	0.008	0.02842	T	8	0.0017981231	0.00024	T	.	.	.	0.027	0.05988	0.388	0.40951	.	.	0.009782736317217211	0.00940	.	.	0.538346886635	0.44213	T	0.002324	0.01720	T	-0.380822	0.03079	T	-0.784801	0.02311	T	0.00124196999210505	0.00012	T	0.263374	0.04265	T	0.04313465	0.06669	0.036235157	0.03030	0.04313465	0.06669	0.036235157	0.03030	-0.766	0.00774	T	.	.	0.068	0.02639	B	.	.	-0.084979	0.03731	0.770	0.10447506845337422	0.00132	0.00336	0.01748	N	AEFI	0.012014	0.00120	N	-2.28437407882715	0.00049	0.002118662	-2.21407410585182	0.00104	0.004576006	2.08611004689468E-5	0.02871	0.632932	0.41330	0	0.666794	0.63253	0	0.657636	0.52715	0	0.755437	0.99637	0	.	.	1.85	-2.51	0.05996	1.202000	0.31878	0.062000	0.14145	-1.184000	0.01383	0.735000	0.28974	0.000000	0.08366	0.000000	0.00833	0.4851:0.195:0.1314:0.1885	0.839	0.01073	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	11904.3	89	chr2	95860046	.	C	A	11904.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=0.751;DP=1934;ExcessHet=48.2876;FS=11.691;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.24;MQRankSum=-9.124;QD=6.3;ReadPosRankSum=-0.315;SOR=1.619	GT:AD:DP:GQ:PL	0/1:95,24:119:99:723,0,2508	0	0	19	0
chr2	95927222	95927222	-	AT	exonic	ANKRD36C	.	frameshift insertion	ANKRD36C:NM_001310154:exon28:c.1930_1931insAT:p.S644Yfs*24	.	585	748	183	6	0	195	0.115316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0015	0.0011	0.0019	0.0005	0.0013	0	0.0007	0.0009605	25	26028	rs745741068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	18862.3	164	chr2	95927222	.	G	GAT	18862.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=2.6;DP=3163;ExcessHet=48.2876;FS=34.38;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=54.61;MQRankSum=-10.17;QD=6.03;ReadPosRankSum=-5.284;SOR=3.306	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:153,35:188:99:0|1:95927222_G_GAT:1009,0,6319:95927222	0	0	19	0
chr2	95927227	95927228	TT	-	exonic	ANKRD36C	.	frameshift deletion	ANKRD36C:NM_001310154:exon28:c.1925_1926del:p.Q642Pfs*18	.	630	694	193	5	0	203	0.127593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0015	0.0011	0.0019	0.0005	0.0013	0	0.0007	0.0009605	25	26028	rs772059065	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	26377.3	184	chr2	95927226	.	GTT	G	26377.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=2.39;DP=3487;ExcessHet=48.2876;FS=11.32;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=54.52;MQRankSum=-10.76;QD=7.59;ReadPosRankSum=-5.284;SOR=1.618	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:162,41:203:99:0|1:95927222_G_GAT:1234,0,6679:95927222	0	0	19	0
chr2	95927234	95927234	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.A1919G:p.E640G	.	638	673	206	5	0	216	0.138284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.00618498349042	.	.	0.0012	0.0016	0.0011	0.0019	0.0005	0.0013	0	0.0007	3.84e-05	1	26028	rs758839836	6.856e-07	6.84e-07	1.364e-06	0	9.007e-07	0	0	.	.	0	0	0	0	0	0	9.007e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.114	0.36765	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.11	0.77466	T	-0.39	0.13611	N	0.176	0.18920	-0.5261	0.67688	T	0.427	0.77022	T	6	0.03557104	0.01812	T	0.006185	0.16200	T	0.149	0.39377	.	.	0.42989457901	0.42608	0.007308549639332476	0.00696	.	.	.	.	.	0.003258	0.02667	T	-0.0875605	0.38480	T	-0.363551	0.37640	T	0.0366356248361039	0.03091	T	0.168983	0.05631	T	0.062684655	0.13118	0.16541363	0.38267	0.062684655	0.13117	0.16541363	0.38267	-4.184	0.26519	T	.	.	0.130	0.27998	B	.;.	.;.	2.279132	0.29141	18.03	0.9497533031407277	0.25908	0.01715	0.05438	N	AEFBI	0.033788	0.04074	N	-0.603271583609637	0.18846	0.9816864	-0.856632057968517	0.13128	0.6793434	1.06943366512053E-5	0.01202	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	0.578	0.16575	1.624000	0.36629	-0.363000	0.09661	0.319000	0.19345	0.008000	0.17931	0.000000	0.08366	0.003000	0.05239	.	.	.	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	35910.4	215	chr2	95927234	.	T	C	35910.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.871;DP=3849;ExcessHet=48.2876;FS=7.304;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=54.28;MQRankSum=-11.77;QD=9.36;ReadPosRankSum=-6.004;SOR=1.205	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:175,58:233:99:0|1:95927222_G_GAT:1909,0,7174:95927222	0	0	19	0
chr2	95927252	95927252	A	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.T1901C:p.I634T	.	674	623	216	9	0	234	0.158108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	.	.	.	0.0825	0.1113	0.0839	0.1182	0.1114	0.0793	0.0608	0.0544	3.84e-05	1	26028	rs111976783	2.057e-06	2.052e-06	2.729e-06	1.378e-06	6.728e-05	5.5e-07	1.5e-07	1.784e-05	8.95e-06	0	6.728e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.27194	T	0.194	0.28120	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.08	0.77078	T	-0.99	0.26200	N	0.069	0.17278	-0.8026	0.54991	T	0.326	0.69410	T	6	0.0039491355	0.00076	T	.	.	.	0.194	0.47447	.	.	.	.	0.0049901546743311475	0.00471	.	.	.	.	.	0.003965	0.03373	T	-0.0895306	0.38154	T	-0.366381	0.37311	T	0.00782888568937778	0.00092	T	0.441356	0.12522	T	0.056561366	0.11145	0.12979923	0.31201	0.056561366	0.11144	0.12979923	0.31200	-5.925	0.50163	T	.	.	0.180	0.48715	B	.;.	.;.	1.251398	0.16483	12.57	0.92565402419728915	0.22018	0.00377	0.01912	N	AEFBI	0.031745	0.03455	N	-0.892394221719867	0.11022	0.5297326	-1.14952198102138	0.06776	0.3273419	1.22801436175958E-5	0.02871	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	-1.16	0.09181	0.550000	0.23052	-1.428000	0.05463	0.359000	0.20063	0.011000	0.18532	0.000000	0.08366	0.036000	0.13842	.	.	.	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	63959.4	272	chr2	95927252	.	A	G	63959.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.312;DP=4936;ExcessHet=48.2876;FS=0;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=53.51;MQRankSum=-14.02;QD=13;ReadPosRankSum=-5.496;SOR=0.719	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:199,93:292:99:0|1:95927222_G_GAT:3306,0,8076:95927222	0	0	19	0
chr2	95927268	95927268	C	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.G1885T:p.D629Y	.	676	613	224	9	0	242	0.16485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.333	.	.	.	0.0990	0.1443	0.0896	0.1297	0.1231	0.0957	0.0823	0.0698	0.0779227	12047	154602	rs79307257	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.596e-06	6.571e-06	0	1.351e-05	1.477e-05	0	0	.	.	0	0	0	0	0	0	0	1.477e-05	0	0	0.001	0.78490	D	0.026	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.1	0.77336	T	-1.9	0.44284	N	0.173	0.51315	-0.4874	0.69100	T	0.446	0.78240	T	6	0.0048143566	0.00102	T	.	.	.	0.333	0.65522	.	.	.	.	0.012629181598714094	0.01221	.	.	.	.	.	0.007056	0.06479	T	-0.00641558	0.50765	T	-0.246992	0.50114	T	0.852545201778412	0.50387	D	0.59994	0.27277	T	0.11685397	0.27556	0.18900135	0.42222	0.11685397	0.27555	0.18900135	0.42221	-8.156	0.62848	D	.	.	0.178	0.50389	B	.;.	.;.	2.735108	0.35810	20.0	0.94629422228171811	0.25216	0.01477	0.04919	N	AEFBI	0.029319	0.02744	N	-0.591855003156469	0.19190	1.00245	-0.847697327138236	0.13343	0.6916549	1.13024900829832E-5	0.02871	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	0.578	0.16575	0.534000	0.22807	0.568000	0.19578	0.291000	0.18778	0.021000	0.19753	0.000000	0.08366	0.005000	0.06747	.	.	.	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	87835.4	322	chr2	95927268	.	C	A	87835.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-5.958;DP=5895;ExcessHet=48.2876;FS=3.314;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=52.8;MQRankSum=-15.82;QD=14.94;ReadPosRankSum=-3.622;SOR=0.489	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:213,135:348:99:0|1:95927222_G_GAT:4926,0,8473:95927222	0	0	19	0
chr2	95927277	95927277	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.G1876A:p.D626N	.	672	616	225	9	0	243	0.164746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	.	.	.	0.0982	0.1425	0.0884	0.1290	0.1219	0.0951	0.0815	0.0693	0.0779679	12054	154602	rs75189823	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.023	0.57104	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	-1.07	0.76948	T	-0.32	0.12283	N	0.045	0.10626	-0.0304	0.81622	T	0.463	0.79190	T	5	0.0036658943	0.00067	T	.	.	.	0.172	0.43662	.	.	.	.	0.0029834670744068	0.00278	.	.	.	.	.	0.001745	0.01167	T	-0.214699	0.18721	T	-0.546177	0.17695	T	0.0182863330978625	0.00547	T	0.726827	0.34112	T	0.056939475	0.11268	0.071558535	0.15336	0.056939475	0.11268	0.071558535	0.15336	-7.104	0.55237	T	.	.	0.131	0.35560	B	.;.	.;.	2.171628	0.27671	17.54	0.99663125085786775	0.78074	0.02072	0.06171	N	AEFBI	0.036161	0.04774	N	-0.595262529696858	0.19088	0.996275	-0.85090525598683	0.13266	0.6872205	1.13024900829832E-5	0.02871	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	0.578	0.16575	0.528000	0.22711	-1.180000	0.06099	0.291000	0.18778	0.002000	0.15269	0.000000	0.08366	0.003000	0.05239	.	.	.	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	89248.4	328	chr2	95927277	.	C	T	89248.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-6.782;DP=6158;ExcessHet=48.2876;FS=4.127;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=52.73;MQRankSum=-16.01;QD=14.73;ReadPosRankSum=-1.494;SOR=0.465	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:215,138:353:99:0|1:95927222_G_GAT:4985,0,8449:95927222	0	0	19	0
chr2	95929092	95929092	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.A1817G:p.E606G	.	442	885	194	1	0	196	0.0996948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	.	.	.	0.0459	0.0589	0.0223	0.0330	0.0459	0.0434	0.0437	0.0722	0.0179806	468	26028	rs76434426	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.12	0.48855	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	-1.41	0.80560	T	-0.78	0.21644	N	0.056	0.10626	-0.3240	0.74310	T	0.401	0.75223	T	5	0.0049548745	0.00106	T	.	.	.	0.197	0.47942	.	.	.	.	0.0054717690626164255	0.00517	.	.	.	.	.	0.005311	0.04761	T	-0.0584766	0.43144	T	-0.321774	0.42379	T	0.00563426744630397	0.00061	T	0.377662	0.09460	T	0.056738406	0.11204	0.0661094	0.13496	0.056738406	0.11203	0.0661094	0.13496	-3.88	0.22002	T	.	.	0.122	0.31279	B	.;.	.;.	2.425270	0.31191	18.67	0.9961510765788425	0.75052	0.01924	0.05874	N	AEFI	0.033909	0.04109	N	-0.600821869982756	0.18921	0.9861679	-0.827596025984616	0.13828	0.7194133	1.26041081260552E-5	0.02871	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	0.871	0.18244	1.761000	0.38070	0.132000	0.15059	0.312000	0.19173	0.010000	0.18352	0.001000	0.17328	0.012000	0.09680	0.0:0.0:0.0:1.0	3.983	0.08994	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	39801.4	216	chr2	95929092	.	T	C	39801.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=0.974;DP=3809;ExcessHet=48.2876;FS=9.792;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=47.28;MQRankSum=-9.617;QD=10.54;ReadPosRankSum=-3.918;SOR=1.353	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:168,71:239:99:0|1:95929092_T_C:2395,0,6736:95929092	0	0	19	0
chr2	95929110	95929110	A	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.T1799C:p.I600T	.	444	879	199	0	0	199	0.101686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.230	.	.	.	0.0502	0.0563	0.0250	0.0339	0.0515	0.0474	0.0455	0.0855	0.0009221	24	26028	rs80159651	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.38185	T	0.013	0.63109	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.17	0.78199	T	-0.21	0.10308	N	0.064	0.13911	-0.7459	0.58149	T	0.297	0.66886	T	6	0.0053180456	0.00117	T	.	.	.	0.230	0.53062	.	.	.	.	0.00358464158390252	0.00335	.	.	.	.	.	5.76E-4	0.00232	T	-0.102964	0.35934	T	-0.385677	0.35058	T	0.00148509498065692	0.00015	T	0.430857	0.15541	T	0.03336381	0.03541	0.041758195	0.04819	0.03336381	0.03540	0.041758195	0.04819	-5.849	0.49914	T	.	.	0.141	0.47448	B	.;.	.;.	1.598186	0.20432	14.75	0.94716897870735495	0.25385	0.00401	0.02002	N	AEFI	0.028900	0.02629	N	-0.753193177697584	0.14546	0.7255317	-1.00196959350196	0.09742	0.4864572	9.46784315172941E-6	0.01202	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	-0.637	0.10926	0.215000	0.17352	-1.249000	0.05911	0.351000	0.19951	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	0.4587:0.0:0.0:0.5413	2.815	0.05119	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	49331.4	246	chr2	95929110	.	A	G	49331.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=8.94;DP=4414;ExcessHet=48.2876;FS=9.734;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=45.28;MQRankSum=-9.563;QD=11.19;ReadPosRankSum=-2.139;SOR=1.456	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:195,91:286:99:0|1:95929092_T_C:3234,0,7894:95929092	0	0	19	0
chr2	95929126	95929126	C	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.G1783T:p.D595Y	.	442	865	215	0	0	215	0.11054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.242	.	.	.	0.0287	0.0327	0.0149	0.0205	0.0260	0.0277	0.0293	0.0461	0.0009221	24	26028	rs79434735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.005	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.96	0.75553	T	-1.05	0.27463	N	0.094	0.37717	-0.7052	0.60188	T	0.302	0.67344	T	6	0.007255286	0.00165	T	.	.	.	0.242	0.54781	.	.	.	.	0.01955586045237903	0.01909	.	.	.	.	.	0.003986	0.03393	T	-0.0187037	0.49039	T	-0.264643	0.48358	T	0.00831936897839858	0.00100	T	0.876612	0.58915	D	0.08026257	0.18380	0.06422837	0.12840	0.08026257	0.18380	0.06422837	0.12840	-7.935	0.60626	D	.	.	0.193	0.50147	B	.;.	.;.	1.372804	0.17831	13.39	0.93504610952685097	0.23313	0.02178	0.06379	N	AEFI	0.025243	0.01698	N	-0.59865468081622	0.18985	0.9901359	-0.821302082525131	0.13979	0.7281023	1.38702267383256E-5	0.02871	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	0.871	0.18244	-0.066000	0.11556	0.673000	0.20610	0.284000	0.18682	0.001000	0.13787	0.001000	0.17328	0.010000	0.09038	0.0:1.0:0.0:0.0	5.051	0.13847	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	66098.4	287	chr2	95929126	.	C	A	66098.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=3.33;DP=5158;ExcessHet=48.2876;FS=18.99;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=44.08;MQRankSum=-9.946;QD=12.83;ReadPosRankSum=-1.47;SOR=1.817	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:210,115:325:99:0|1:95929092_T_C:4197,0,8472:95929092	0	0	19	0
chr2	95929130	95929130	G	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.C1779G:p.D593E	.	442	863	217	0	0	217	0.111683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	.	.	.	0.0281	0.0314	0.0152	0.0199	0.0259	0.0271	0.0289	0.0443	0.0009221	24	26028	rs375866621	5.512e-06	6.156e-06	6.857e-06	4.153e-06	7.204e-06	2.37e-06	1.71e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.204e-06	0	0	6.603e-06	6.573e-06	1.29e-05	0	1.478e-05	0	0	.	.	0	0	0	0	0	0	0	1.478e-05	0	0	1.0	0.00964	T	0.215	0.26306	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.99	0.75911	T	-0.17	0.09627	N	0.012	0.01274	-0.9830	0.34305	T	0.120	0.41886	T	6	0.0062747	0.00142	T	.	.	.	0.082	0.23913	0.088	0.00943	.	.	0.0012585486106362017	0.00115	.	.	.	.	.	6.61E-4	0.00291	T	-0.22299	0.17588	T	-0.558086	0.16556	T	0.0056942431256175	0.00062	T	0.361264	0.08382	T	0.030476715	0.02717	0.028199261	0.01033	0.030476715	0.02717	0.028199261	0.01033	1.103	0.00153	T	.	.	0.184	0.39898	B	.;.	.;.	-0.102250	0.03628	0.719	0.82362292130898662	0.14152	0.00009	0.00143	N	AEFI	0.011962	0.00118	N	-1.12759496650573	0.06156	0.2826552	-1.32800364383948	0.04072	0.1913117	8.82048009805059E-6	0.01202	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	-0.0539	0.13146	0.175000	0.16577	-0.796000	0.07394	-0.724000	0.03774	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.5966:0.4034:0.0	4.774	0.12542	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	71010.4	295	chr2	95929130	.	G	C	71010.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=6.88;DP=5365;ExcessHet=48.2876;FS=20.95;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=43.69;MQRankSum=-9.89;QD=13.27;ReadPosRankSum=-1.093;SOR=1.897	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:219,124:343:99:0|1:95929092_T_C:4548,0,8823:95929092	0	0	19	0
chr2	95929135	95929135	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.G1774A:p.D592N	.	440	860	222	0	0	222	0.114315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	.	.	.	0.0258	0.0286	0.0139	0.0184	0.0245	0.0251	0.0266	0.0399	0.0009221	24	26028	rs111462973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.31	0.26306	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.0	0.76037	T	-0.29	0.11728	N	0.04	0.12341	-0.9745	0.36235	T	0.178	0.52334	T	6	0.0032269955	0.00055	T	.	.	.	0.061	0.17616	.	.	.	.	0.004280505726367948	0.00402	.	.	.	.	.	0.002625	0.02014	T	-0.209791	0.19408	T	-0.539127	0.18382	T	0.0104211887073546	0.00143	T	0.69513	0.30474	T	0.054424945	0.10441	0.04548125	0.06130	0.054424945	0.10440	0.04548125	0.06129	-6.736	0.52081	T	.	.	0.134	0.35352	B	.;.	.;.	2.140902	0.27259	17.40	0.99632098778018607	0.76081	0.00615	0.02724	N	AEFI	0.027355	0.02221	N	-0.807133128301253	0.13128	0.6445496	-1.03707422889346	0.08978	0.4441984	8.83579175512005E-6	0.01202	0.651	0.46895	0	0.653731	0.59785	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	-0.0868	0.13014	0.656000	0.24632	0.771000	0.21396	0.284000	0.18682	0.006000	0.17386	0.005000	0.19230	0.009000	0.08673	0.0:0.6672:0.0:0.3328	3.151	0.06100	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	74075.4	304	chr2	95929135	.	C	T	74075.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=6.95;DP=5621;ExcessHet=48.2876;FS=22.763;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=43.18;MQRankSum=-9.69;QD=13.51;ReadPosRankSum=-1.078;SOR=1.932	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:218,128:346:99:0|1:95929092_T_C:4674,0,8743:95929092	0	0	19	0
chr2	97513220	97513220	G	A	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.C2765T:p.A922V	.	613	640	247	22	0	291	0.185232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0963	0.0850	0.0216	0.0100	0.3296	0.0294	0.1310	0.0097	0.0001921	5	26028	rs80135902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	0.01	0.15535	B	0.002	0.06944	B	.	.	.	.	.	.	.	0	0.06538	N	.	.	.	.	.	.	0.031	0.15888	.	.	.	.	.	.	.	0.0024380386	0.00036	T	.	.	.	.	.	.	.	.	.	0.0030564260149934064	0.00284	.	.	0.613379478455	0.54794	T	0.007581	0.06977	T	-0.0927998	0.37613	T	-0.371077	0.36763	T	.	.	.	0.352565	0.07917	T	0.017845605	0.00308	0.067346	0.13920	0.017845605	0.00308	0.067346	0.13919	-1.943	0.02973	T	.	.	0.108	0.23709	B	.;.;.	.;.;.	0.756607	0.11265	7.891	0.24358559582250291	0.01073	0.00023	0.00238	N	AEFI	.	.	.	.	.	.	.	.	.	1.16123222590643E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.223356	0.04673	0	0.0495094	0.09020	1.25	-0.477	0.11493	0.374000	0.20232	-0.021000	0.12925	-0.716000	0.03877	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.7908:0.0:0.2092:0.0	4.611	0.11791	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.242358	0.041667	0.256579	0.288889	0.375000	0.340426	0.247788	0.262376	0.5263	64897.0	159	chr2	97513220	.	G	A	64897.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-0.096;DP=3961;ExcessHet=38.2876;FS=4.24;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=36.14;MQRankSum=-3.677;QD=16.4;ReadPosRankSum=0.819;SOR=1.012	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:141,92:233:99:0|1:97513219_T_C:3439,0,5644:97513219	0	1	18	0
chr2	97513227	97513227	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2758G:p.K920E	.	611	640	249	22	0	293	0.186268	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0214	0.0529	0.0036	0	0.0702	0.0066	0.0682	0.0028	3.84e-05	1	26028	rs79390266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.05707	T	0.544	0.37968	P	0.044	0.24394	B	.	.	.	.	.	.	.	1.445	0.36358	L	.	.	.	.	.	.	0.12	0.33250	.	.	.	.	.	.	.	0.0055945516	0.00124	T	.	.	.	.	.	.	.	0.168933306366	0.16529	0.003989330973675759	0.00373	.	.	0.735671639442	0.72336	T	0.033889	0.23100	T	-0.112291	0.34391	T	-0.399074	0.33492	T	.	.	.	0.369363	0.08678	T	0.05957855	0.12126	0.07929396	0.17837	0.05957855	0.12126	0.07929396	0.17837	-5.258	0.39526	T	.	.	0.142	0.33086	B	.;.;.	.;.;.	1.364301	0.17734	13.34	0.46228864402172176	0.03687	0.02246	0.06510	N	AEFI	.	.	.	.	.	.	.	.	.	4.68263816856013E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.223356	0.04673	0	0.103977	0.22772	1.25	1.25	0.20475	-0.034000	0.12176	-6.769000	0.01311	0.334000	0.19664	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.0:0.0:1.0	6.615	0.21965	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.049467	0.010417	0.061189	0.058140	0.000000	0.104651	0.038462	0.040000	0.5263	68935.0	164	chr2	97513227	.	T	C	68935.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=0.29;DP=4239;ExcessHet=38.2876;FS=3.338;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=36.44;MQRankSum=-4.04;QD=16.5;ReadPosRankSum=0.983;SOR=0.999	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:146,96:242:99:0|1:97513219_T_C:3592,0,5824:97513219	0	1	18	0
chr2	97513244	97513244	G	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.C2741A:p.P914Q	.	595	624	272	31	0	334	0.211125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023	0.0143	0	0	0	0.0016	0	0	3.84e-05	1	26028	rs79527710	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.569	0.10391	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	.	.	.	-1.445	0.00556	N	.	.	.	.	.	.	0.188	0.27435	.	.	.	.	.	.	.	0.0063654184	0.00144	T	.	.	.	.	.	.	.	0.320256813643	0.31633	0.004245720093313631	0.00398	.	.	0.703683018684	0.67677	T	0.006209	0.05647	T	-0.125373	0.32247	T	-0.417866	0.31321	T	.	.	.	0.315568	0.06252	T	0.023773897	0.01146	0.07268516	0.15708	0.023773897	0.01146	0.07268516	0.15708	0.674	0.00180	T	.	.	0.102	0.17827	B	.;.;.	.;.;.	-0.119120	0.03530	0.672	0.19522481671669692	0.00662	0.00471	0.02257	N	AEFI	.	.	.	.	.	.	.	.	.	1.11447686844719E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0495094	0.09020	1.25	-0.0318	0.13235	0.839000	0.27239	1.716000	0.28228	-0.610000	0.04588	0.997000	0.40164	0.949000	0.28973	0.001000	0.02609	0.2806:0.0:0.2874:0.432	2.311	0.03930	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5263	84738.0	186	chr2	97513244	.	G	T	84738.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-0.875;DP=4777;ExcessHet=38.2876;FS=3.221;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=36.9;MQRankSum=-3.997;QD=17.8;ReadPosRankSum=0.056;SOR=0.933	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:164,120:284:99:0|1:97513244_G_T:4545,0,6461:97513244	0	1	18	0
chr2	97513253	97513253	A	G	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.T2732C:p.V911A	.	594	617	279	32	0	343	0.217502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0083	0	0	0	0.0008	0	0	3.84e-05	1	26028	rs80295552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.424	0.23914	T	0.008	0.14655	B	0.002	0.06944	B	.	.	.	.	.	.	.	0.69	0.16971	N	.	.	.	.	.	.	0.109	0.12627	.	.	.	.	.	.	.	0.00813821	0.00185	T	.	.	.	.	.	.	.	0.216624796971	0.21254	0.003043674037080383	0.00283	.	.	0.697517633438	0.66786	T	0.028597	0.20678	T	-0.148518	0.28543	T	-0.451112	0.27575	T	.	.	.	0.321068	0.06505	T	0.015220522	0.00128	0.050442122	0.07918	0.015220522	0.00128	0.050442122	0.07917	-2.994	0.10116	T	.	.	0.23	0.46273	B	.;.;.	.;.;.	0.168625	0.05582	2.036	0.46468697738120324	0.03724	0.00493	0.02333	N	AEFI	.	.	.	.	.	.	.	.	.	1.09581247054722E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0502799	0.09584	1.25	0.037	0.13512	-0.176000	0.09802	-1.469000	0.05369	-0.632000	0.04510	0.008000	0.17931	0.000000	0.08366	0.002000	0.04165	0.5217:0.0:0.4783:0.0	4.080	0.09400	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000639	0.000000	0.002857	0.004630	0.000000	0.000000	0.000000	0.000000	0.5263	90004.0	197	chr2	97513253	.	A	G	90004.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-2.442;DP=4968;ExcessHet=38.2876;FS=3.203;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=36.95;MQRankSum=-3.978;QD=18.26;ReadPosRankSum=-0.22;SOR=0.922	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:164,129:293:99:0|1:97513244_G_T:4923,0,6457:97513244	0	1	18	0
chr2	97513254	97513254	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2731A:p.V911M	.	594	616	280	32	0	344	0.218274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0076	0	0	0	0.0011	0	0	7.68e-05	2	26028	rs74341509	0.0001	0.0001	0.0001	0.0002	0.0002	0.0001	0.0001	0.0002	0.0001	0	0	0	0	0	0	0.0002	0.0002	0	8.256e-05	9.122e-05	7.317e-05	9.244e-05	0.0002	4.621e-05	3.529e-05	9.276e-05	7.178e-05	0	0	0	0	0	0	0	0.0002	0	0	.	.	.	0.098	0.39040	T	0.053	0.22573	B	0.004	0.10090	B	.	.	.	.	.	.	.	0.345	0.11182	N	.	.	.	.	.	.	0.115	0.14480	.	.	.	.	.	.	.	0.008039981	0.00183	T	.	.	.	.	.	.	.	0.201204373187	0.19734	0.004376723944163083	0.00411	.	.	0.681571960449	0.64493	T	0.010384	0.09385	T	-0.177895	0.24050	T	-0.493311	0.23044	T	.	.	.	0.538946	0.18179	T	0.01859633	0.00382	0.05722728	0.10366	0.01859633	0.00382	0.05722728	0.10366	-3.253	0.13139	T	.	.	0.167	0.37746	B	.;.;.	.;.;.	0.527632	0.08965	5.745	0.40177876468154022	0.02819	0.00378	0.01916	N	AEFI	.	.	.	.	.	.	.	.	.	1.15642168101809E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0502799	0.09584	1.25	-0.662	0.10840	-0.590000	0.05854	-9.274000	0.00843	0.304000	0.19002	0.004000	0.16614	0.000000	0.08366	0.002000	0.04165	0.0:0.6788:0.0:0.3212	5.565	0.16451	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006345	0.000000	0.005682	0.000000	0.000000	0.000000	0.008264	0.008696	0.5263	90016.0	197	chr2	97513254	.	C	T	90016.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-2.225;DP=4978;ExcessHet=38.2876;FS=3.233;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=36.95;MQRankSum=-3.978;QD=18.28;ReadPosRankSum=-0.275;SOR=0.922	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:164,129:293:99:0|1:97513244_G_T:4923,0,6457:97513244	0	1	18	0
chr2	97513268	97513268	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2717A:p.R906K	.	591	591	298	42	0	382	0.244246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2502	0.2966	0.2791	0.2632	0.3769	0.2470	0.2431	0.1747	0.0004995	13	26028	rs144131603	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.274	0.27235	T	0.119	0.26641	B	0.008	0.13708	B	.	.	.	.	.	.	.	1.495	0.37439	L	.	.	.	.	.	.	0.042	0.16028	.	.	.	.	.	.	.	0.002357304	0.00035	T	.	.	.	.	.	.	.	.	.	0.005747616653950952	0.00544	.	.	0.613570392132	0.54820	T	0.017136	0.14032	T	-0.187866	0.22573	T	-0.507633	0.21559	T	.	.	.	0.572743	0.20478	T	0.03131732	0.02950	0.0672792	0.13896	0.03131732	0.02950	0.0672792	0.13896	-3.791	0.20670	T	.	.	0.137	0.29968	B	.;.;.	.;.;.	-1.310648	0.00429	0.009	0.36842002943516644	0.02393	0.00779	0.03201	N	AEFI	.	.	.	.	.	.	.	.	.	1.25854079706441E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.0933222	0.21027	1.25	0.308	0.15062	-1.265000	0.02953	-5.898000	0.01560	-1.898000	0.00526	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7823:0.0:0.2177	5.370	0.15434	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.308701	0.315385	0.320055	0.309735	0.250000	0.263158	0.341912	0.338843	0.5263	97631.0	207	chr2	97513268	.	C	T	97631.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-0.519;DP=5204;ExcessHet=38.2876;FS=2.457;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=37.34;MQRankSum=-4.276;QD=18.86;ReadPosRankSum=0.097;SOR=0.904	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:168,142:310:99:0|1:97513268_C_T:5437,0,6627:97513268	0	1	18	0
chr2	97513270	97513270	A	C	exonic	ANKRD36B	.	stopgain	ANKRD36B:NM_025190:exon38:c.T2715G:p.Y905X	.	591	592	298	41	0	380	0.242967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2438	0.2932	0.2713	0.2615	0.3746	0.2394	0.2372	0.1697	0.0005763	15	26028	rs879468063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	0.16586	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.361473	0.04047	T	-0.757008	0.03221	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	3.385426	0.46848	22.4	0.44838944251633817	0.03476	0.03038	0.07927	N	AEFI	.	.	.	.	.	.	.	.	.	1.13426159498125E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.166916	0.28634	1.25	0.017	0.13431	-0.091000	0.11111	-1.488000	0.05326	0.375000	0.20354	0.013000	0.18845	0.000000	0.08366	0.003000	0.05239	0.7855:0.0:0.2145:0.0	4.462	0.11093	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.323424	0.318182	0.331044	0.327434	0.333333	0.307018	0.349265	0.347107	0.5263	95844.0	211	chr2	97513270	.	A	C	95844.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-0.821;DP=5239;ExcessHet=38.2876;FS=2.439;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=37.42;MQRankSum=-4.193;QD=18.3;ReadPosRankSum=-0.308;SOR=0.89	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:169,143:312:99:0|1:97513268_C_T:5455,0,6666:97513268	0	1	18	0
chr2	97513271	97513271	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2714G:p.Y905C	.	591	590	299	42	0	383	0.245042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2908	0.3387	0.3276	0.3085	0.4114	0.2887	0.2821	0.2034	0.0006531	17	26028	rs146893214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.56640	T	0.022	0.18677	B	0.002	0.06944	B	.	.	.	.	.	.	.	1.14	0.29013	L	.	.	.	.	.	.	0.149	0.51315	.	.	.	.	.	.	.	0.0020657778	0.00029	T	.	.	.	.	.	.	.	.	.	0.004479552258500605	0.00420	.	.	0.829705476761	0.86516	D	0.127676	0.45486	T	0.00706366	0.52624	T	-0.22763	0.52001	T	.	.	.	0.424058	0.11326	T	0.08367851	0.19332	0.12435671	0.29977	0.08367851	0.19332	0.12435671	0.29976	-3.342	0.14285	T	.	.	0.228	0.46049	B	.;.;.	.;.;.	2.163208	0.27562	17.50	0.45197924751744767	0.03530	0.10868	0.16248	N	AEFI	.	.	.	.	.	.	.	.	.	1.47313282737101E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.0933222	0.21027	1.25	1.25	0.20475	2.350000	0.43718	-0.293000	0.10176	0.334000	0.19664	0.983000	0.35670	0.000000	0.08366	0.004000	0.06068	0.0:0.2551:0.0:0.7449	3.086	0.05898	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.421021	0.365672	0.435440	0.398230	0.416667	0.385965	0.470588	0.438017	0.5263	98710.0	209	chr2	97513271	.	T	C	98710.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-1.177;DP=5239;ExcessHet=38.2876;FS=2.439;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=37.46;MQRankSum=-4.272;QD=18.84;ReadPosRankSum=-0.525;SOR=0.894	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:169,143:312:99:0|1:97513268_C_T:5455,0,6666:97513268	0	1	18	0
chr2	97513281	97513281	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2704A:p.E902K	.	587	587	303	45	0	393	0.250798	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4801	0.5496	0.4874	0.4823	0.5076	0.4642	0.4639	0.4735	0.0017529	271	154602	rs5011473	3.077e-05	0.0002	3.34e-05	2.81e-05	0.0001	2.332e-05	2.077e-05	3.145e-05	1.671e-05	0.0001	0	0	0	0.0007	0	2.729e-06	0	0	0	9.135e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.094	0.41573	T	0.98	0.59353	D	0.855	0.60933	P	.	.	.	.	.	.	.	1.765	0.45800	L	.	.	.	.	.	.	0.208	0.65758	.	.	.	.	.	.	.	0.002158165	0.00031	T	.	.	.	.	.	.	.	.	.	0.03228563945784759	0.03176	.	.	0.789947628975	0.80434	T	0.190084	0.54451	T	0.0749938	0.61451	D	-0.130053	0.60967	T	.	.	.	0.733627	0.34942	T	0.02507305	0.01405	0.09507035	0.22531	0.02507305	0.01404	0.09507035	0.22530	-6.657	0.51486	T	.	.	0.139	0.30476	B	.;.;.	.;.;.	2.117809	0.26958	17.30	0.4037492673049709	0.02845	0.56632	0.30167	D	AEFI	.	.	.	.	.	.	.	.	.	1.05171682619281E-5	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.167599	0.28683	1.4	1.4	0.21393	3.749000	0.54867	0.048000	0.13961	-0.659000	0.04360	1.000000	0.71638	0.001000	0.17328	0.002000	0.04165	0.0:1.0:0.0:0.0	8.752	0.33786	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.529548	0.601351	0.515110	0.508696	0.416667	0.517241	0.552448	0.516393	0.5263	99301.0	210	chr2	97513281	.	C	T	99301.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-0.601;DP=5349;ExcessHet=38.2876;FS=2.432;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=37.86;MQRankSum=-4.794;QD=18.72;ReadPosRankSum=-0.367;SOR=0.843	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:173,148:321:99:0|1:97513268_C_T:5552,0,6697:97513268	0	1	18	0
chr2	97513354	97513354	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2631G:p.I877M	.	663	628	207	24	0	255	0.168762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4962	0.4838	0.4975	0.4959	0.5008	0.4970	0.4959	0.4971	0.0692716	1803	26028	rs879259208	1.426e-06	2.057e-06	1.417e-06	1.436e-06	9.218e-07	2.4e-07	9e-08	.	.	0	0	0	0	0	0	9.218e-07	1.742e-05	0	3.782e-05	4.181e-05	5.896e-05	1.554e-05	0.0004	1.406e-05	9.03e-06	0.0001	9.02e-05	0	0	0.0004	0	0	0	0	0	0	0	.	.	.	0.093	0.39799	T	0.563	0.38396	P	0.061	0.26820	B	.	.	.	.	.	.	.	0.69	0.16971	N	.	.	.	.	.	.	0.086	0.34120	.	.	.	.	.	.	.	0.00250566	0.00038	T	.	.	.	.	.	.	.	.	.	0.005410322706841144	0.00512	.	.	0.634645044804	0.57804	T	0.046049	0.27308	T	-0.0562864	0.43486	T	-0.318628	0.42725	T	.	.	.	0.682432	0.29103	T	0.06877274	0.15009	0.14055093	0.33500	0.06877274	0.15009	0.14055093	0.33499	-5.398	0.40900	T	.	.	0.175	0.41387	B	.;.;.	.;.;.	2.260359	0.28881	17.94	0.78590890435183058	0.12367	0.19138	0.20543	N	AEFI	.	.	.	.	.	.	.	.	.	1.43761767599795E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.223356	0.04673	0	0.0910582	0.20564	1.4	1.4	0.21393	0.366000	0.20099	-0.250000	0.10515	0.334000	0.19664	0.995000	0.38783	0.000000	0.08366	0.026000	0.12556	0.3508:0.0:0.0:0.6492	3.561	0.07435	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.493015	0.474026	0.484848	0.500000	0.500000	0.517241	0.503597	0.495868	0.5	23586.3	111	chr2	97513354	.	T	C	23586.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.38;DP=3107;ExcessHet=48.2876;FS=1.966;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=39.22;MQRankSum=-3.517;QD=7.83;ReadPosRankSum=0.701;SOR=0.53	GT:AD:DP:GQ:PL	0/1:139,51:190:99:934,0,3596	0	0	19	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	0.06667	734.34	14	chr2	97532378	.	T	G	734.34	.	AC=2;AF=0.067;AN=30;DP=301;ExcessHet=0;FS=0;InbreedingCoeff=0.9953;MLEAC=2;MLEAF=0.067;MQ=44.41;QD=28.24;SOR=1.022	GT:AD:DP:GQ:PL	1/1:0,26:26:78:758,78,0	14	1	0	4
chr2	102176724	102176724	A	-	exonic	IL1R1	.	frameshift deletion	IL1R1:NM_001320983:exon10:c.1243delA:p.K415Nfs*21,IL1R1:NM_001320984:exon10:c.1126delA:p.K376Nfs*21,IL1R1:NM_001320985:exon10:c.970delA:p.K324Nfs*21,IL1R1:NM_000877:exon12:c.1675delA:p.K559Nfs*21,IL1R1:NM_001288706:exon12:c.1582delA:p.K528Nfs*21,IL1R1:NM_001320978:exon12:c.1675delA:p.K559Nfs*21,IL1R1:NM_001320980:exon12:c.1675delA:p.K559Nfs*21,IL1R1:NM_001320981:exon12:c.1675delA:p.K559Nfs*21,IL1R1:NM_001320982:exon12:c.1675delA:p.K559Nfs*21	.	420	1098	4	0	0	4	0.00181818	.	.	.	719167	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	0.00559105	0.0033	0.0002	0.0002	0.0001	0	0	0.0033	0.0236	0.0001537	4	26028	rs376163784	0.0014	0.0014	0.0008	0.0019	0.0219	0.0013	0.0013	0.0210	0.0207	0	0.0002	0	2.519e-05	0	0.0007	5.396e-06	0.0015	0.0219	0.0009	0.0009	0.0004	0.0014	0.0251	0.0008	0.0007	0.0214	0.0201	9.625e-05	0	0.0007	0	0	0	0	2.94e-05	0	0.0251	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002518	0.000000	0.000000	0.002924	0.000000	0.008621	0.000000	0.007576	0.05263	2224.79	33	chr2	102176723	.	GA	G	2224.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.01;DP=794;ExcessHet=0.119;FS=1.934;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.43;ReadPosRankSum=0.238;SOR=0.871	GT:AD:DP:GQ:PL	0/1:59,34:93:99:934,0,1809	17	0	2	0
chr2	110457071	110457071	T	C	exonic	LIMS4	.	nonsynonymous SNV	LIMS4:NM_001371340:exon3:c.A368G:p.H123R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.620	0.194633888565	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1408796126	0.0005	0.0006	0.0007	0.0004	0.0003	0.0004	0.0004	0.0002	0.0002	0	0	0.0141	0.0001	0	0	0.0003	0.0007	0.0002	0.0004	0.0006	0.0007	0	.	6.746e-05	2.827e-05	.	.	0	0	0	0.0068	0	0	0.0455	0	0	0	.	.	.	0.178	0.29639	T	.	.	.	.	.	.	.	.	.	.	0.999848	0.49770	D	.	.	.	.	.	.	.	.	.	0.609	0.62611	-0.0536	0.81130	T	0.585	0.85122	D	5	0.6312955	0.68531	D	0.194634	0.86374	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068514	0.33476	T	.	.	.	.	.	.	.	.	.	0.963754	0.86559	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.226	0.45798	B	.	.	3.795850	0.54659	23.5	0.99123815021696837	0.53063	0.93900	0.59517	D	AEFI	0.665772	0.63447	D	0.0288546034386853	0.43171	2.61529	-0.0074757725768311	0.39375	2.333746	0.00392958359142553	0.10341	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	2.0	2.0	0.25495	7.477000	0.80071	7.913000	0.74126	0.297000	0.18867	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.0:0.0:1.0	7.962	0.29240	958	0.09170	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	.	.	.	.	.	.	.	.	0.125	230.32	.	chr2	110457071	.	T	C	230.32	.	AC=2;AF=0.125;AN=16;DP=71;ExcessHet=0;FS=0;MLEAC=4;MLEAF=0.25;MQ=25.77;QD=28.79;SOR=4.407	GT:AD:DP:GQ:PL	1/1:0,8:8:24:244,24,0	7	1	0	11
chr2	121736754	121736754	T	C	exonic	NIFK	.	nonsynonymous SNV	NIFK:NM_032390:exon1:c.A97G:p.I33V	.	419	1071	32	0	0	32	0.0147194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00365381184315	0.0005	0.00219649	0.0011	0	0.0011	0	0	0.0012	0.0022	0.0024	0.0010543	163	154602	rs150674424	0.0008	0.0008	0.0006	0.0009	0.0127	0.0007	0.0007	0.0103	0.0095	0.0003	0.0019	0.0003	0	3.744e-05	0.0127	0.0006	0.0016	0.0021	0.0006	0.0006	0.0005	0.0007	0.0021	0.0005	0.0005	0.0012	0.0011	0.0002	0	0.0018	0	0.0002	0	0.0068	0.0005	0.0028	0.0021	0.78	0.22920	T	0.72	0.35082	T	0.001	0.07471	B	0.001	0.04355	B	0.919597	0.08496	N	0.962951	1	0.08975	N	0	0.06538	N	2.38	0.15843	T	0.0	0.12661	N	0.05	0.02179	-0.9671	0.37794	T	0.021	0.09009	T	10	0.00405547	0.00079	T	0.003654	0.08402	T	0.015	0.02232	.	.	0.340510301474	0.33666	0.21560032084306935	0.21476	0.0938221672316	0.10595	0.281098932028	0.07646	T	0.012792	0.11182	T	-0.701879	0.00036	T	-0.787144	0.02244	T	0.0225315469418144	0.00969	T	0.318868	0.10241	T	0.032420773	0.03264	0.033643756	0.02295	0.032420773	0.03264	0.033643756	0.02294	-3.715	0.19540	T	.	.	0.073	0.33179	B	.;.	.;.	0.992886	0.13709	10.25	0.76246405758181179	0.11391	0.00590	0.02647	N	ALL	0.019555	0.00689	N	-1.20663186720539	0.04901	0.2222544	-1.28291433113126	0.04661	0.2203831	0.99999999999498	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	3.3	-0.361	0.11939	0.123000	0.15536	0.233000	0.16214	0.490000	0.22344	0.006000	0.17386	0.000000	0.08366	0.041000	0.14368	0.0:0.4952:0.2008:0.304	3.592	0.07540	818	0.41518	.;RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.013171	0.030612	0.005450	0.032164	0.000000	0.008621	0.009317	0.003817	0.02632	1055.33	35	chr2	121736754	.	T	C	1055.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.108;DP=736;ExcessHet=0;FS=0.756;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.66;ReadPosRankSum=0.988;SOR=0.779	GT:AD:DP:GQ:PL	0/1:52,47:99:99:1069,0,1220	18	0	1	0
chr2	132645287	132645287	C	T	exonic	GPR39	.	nonsynonymous SNV	GPR39:NM_001508:exon2:c.C1043T:p.S348L	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.664	0.0409893252672	.	.	8.241e-06	0	0	0	0	0	0	6.058e-05	6.5e-06	1	154602	rs746210788	1.368e-06	1.368e-06	2.722e-06	0	1.159e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	0	1.656e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000026	0.55875	D	0.074840	0.999999	0.81001	D	2.325	0.66631	M	0.95	0.43279	T	-4.89	0.81431	D	0.847	0.84298	-0.5455	0.66956	T	0.276	0.64753	T	10	0.9011611	0.89477	D	0.040989	0.59680	D	0.664	0.87479	0.709	0.84509	0.81822831969	0.81651	0.7058261638803228	0.70524	0.995737323308	0.74226	0.588798820972	0.51324	T	0.528147	0.83622	D	0.201701	0.74052	D	0.148807	0.80108	D	0.99729198217392	0.91218	D	0.941006	0.77964	D	0.76181406	0.81560	0.6512982	0.79596	0.76181406	0.81562	0.6512982	0.79597	-12.213	0.85873	D	0.6450853962491638	0.71639	0.791	0.76888	P	.	.	5.754132	0.93395	33	0.99916941596385678	0.98449	0.96224	0.68106	D	AEFDBHCI	0.904110	0.85401	D	0.852023177837831	0.89224	9.884252	0.829832494068671	0.91784	11.06663	0.999999999999957	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.3	5.3	0.74745	7.726000	0.83783	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	19.195	0.93673	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	.	.	.	.	.	.	.	.	0.02632	2097.33	35	chr2	132645287	.	C	T	2097.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.2;DP=907;ExcessHet=0;FS=2.545;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.28;ReadPosRankSum=-0.365;SOR=0.525	GT:AD:DP:GQ:PL	0/1:102,84:186:99:2111,0,2529	18	0	1	0
chr2	135153721	135153721	G	C	exonic	RAB3GAP1	.	nonsynonymous SNV	RAB3GAP1:NM_001172435:exon19:c.G2134C:p.V712L,RAB3GAP1:NM_012233:exon19:c.G2134C:p.V712L	Warburg micro syndrome 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00916011762551	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.546	0.07695	T	0.454	0.12884	T	0.001	0.07471	B	0.007	0.12992	B	0.002121	0.37183	N	0.258170	0.998365	0.44821	D	1.04	0.26193	L	0.96	0.42888	T	-1.06	0.28290	N	0.353	0.39457	-1.0865	0.06138	T	0.066	0.27156	T	10	0.115828454	0.21834	T	0.00916	0.24083	T	0.026	0.05648	0.189	0.09907	0.474954162714	0.47126	0.36482779472885013	0.36396	0.223275487687	0.24858	0.541095495224	0.44599	T	0.124802	0.45008	T	-0.150491	0.28235	T	-0.453947	0.27260	T	0.419142510498911	0.29659	T	0.880112	0.59716	D	0.040517136	0.05797	0.05471902	0.09465	0.040517136	0.05797	0.05471902	0.09464	-6.345	0.51130	T	0.513049502216929	0.58652	0.141	0.31074	B	.;.;.	.;.;.	2.968655	0.39555	21.0	0.99014009082590748	0.50420	0.98239	0.80830	D	AEFBI	0.655320	0.62770	D	-0.175366295483999	0.34163	1.946633	0.0285534360724214	0.41047	2.459518	0.552661290633918	0.21348	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.39	4.52	0.54797	5.813000	0.68876	8.694000	0.78086	-0.109000	0.15193	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.1466:0.0:0.8534:0.0	11.248	0.48238	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	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	489.92	33	chr2	135153721	.	G	C	489.92	.	AC=3;AF=0.083;AN=36;BaseQRankSum=-4.996;DP=1209;ExcessHet=0.3672;FS=266.608;InbreedingCoeff=-0.1014;MLEAC=3;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.93;ReadPosRankSum=1.64;SOR=9.926	GT:AD:DP:GQ:PL	0/1:113,41:154:99:135,0,2275	15	0	3	1
chr2	140923069	140923069	C	T	exonic	LRP1B	.	nonsynonymous SNV	LRP1B:NM_018557:exon21:c.G3215A:p.R1072H	.	433	1087	2	0	0	2	0.000919118	.	.	.	3207906	LRP1B-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.328	.	.	0.00978435	0.0041	0.0002	0.0003	0	0	1.501e-05	0.0011	0.0294	0.0036416	563	154602	rs370586151	0.0017	0.0017	0.0010	0.0023	0.0268	0.0016	0.0016	0.0259	0.0255	8.977e-05	4.481e-05	0	2.522e-05	0	0.0010	9.897e-06	0.0018	0.0268	0.0011	0.0011	0.0006	0.0016	0.0338	0.0010	0.0009	0.0296	0.0280	4.818e-05	0	0	0	0.0002	0	0	0	0	0.0338	0.087	0.32453	T	0.076	0.42614	T	0.0	0.02946	B	0.002	0.06944	B	0.000001	0.84330	U	0.000000	0.987797	0.40651	D	2	0.54354	M	-3.85	0.95859	D	-1.9	0.50830	N	0.254	0.28732	-0.2922	0.75204	T	0.654	0.87962	D	10	0.013710856	0.00290	T	.	.	.	0.328	0.65026	.	.	0.513146447579	0.50955	0.8314965894793759	0.83108	0.814884222991	0.66894	0.271289378405	0.06310	T	0.492957	0.84011	T	-0.230141	0.16631	T	-0.0824085	0.64727	T	0.0252475004527636	0.01304	T	0.869313	0.58915	D	0.082178235	0.18918	0.066194676	0.13524	0.082178235	0.18917	0.066194676	0.13523	-6.965	0.53778	T	.	.	0.076	0.08033	B	.;.	.;.	2.309012	0.29552	18.16	0.99610070262046546	0.74753	0.82735	0.41923	D	AEFI	0.302011	0.41037	N	-0.437053765148192	0.24181	1.303866	-0.323783653649861	0.27332	1.515918	2.13797329014645E-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	0.034	0.13500	1.461000	0.34866	.	.	0.599000	0.40250	0.986000	0.36153	0.010000	0.20010	0.997000	0.79791	0.2449:0.4843:0.0:0.2707	4.195	0.09898	894	0.26265	Low-density lipoprotein (LDL) receptor class A, conserved site;Low-density lipoprotein (LDL) receptor class A, 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	1	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	1024.33	35	chr2	140923069	.	C	T	1024.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.56;DP=730;ExcessHet=0;FS=3.634;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.91;ReadPosRankSum=1.65;SOR=0.416	GT:AD:DP:GQ:PL	0/1:72,43:115:99:1038,0,1730	18	0	1	0
chr2	151512812	151512812	A	G	exonic	NEB	.	nonsynonymous SNV	NEB:NM_004543:exon133:c.T18128C:p.M6043T,NEB:NM_001164507:exon161:c.T23267C:p.M7756T,NEB:NM_001164508:exon161:c.T23267C:p.M7756T,NEB:NM_001271208:exon162:c.T23372C:p.M7791T	Nemaline myopathy 2, autosomal recessive, Autosomal recessive	0	1507	15	0	0	15	0.00495213	.	.	.	177067	not_provided|not_specified|Nemaline_myopathy_2|NEB-related_disorder	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0009725,MedGen:C1850569,OMIM:256030|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.088	0.0265597914517	0.0015	0.000199681	0.0018	0.0002	0.0004	0	0	0.0026	0.0037	0.0017	0.0014424	223	154602	rs201767727	0.0015	0.0015	0.0014	0.0015	0.0042	0.0014	0.0014	0.0029	0.0024	0.0001	0.0006	0.0162	0	0.0002	0.0042	0.0013	0.0020	0.0014	0.0011	0.0011	0.0011	0.0011	0.0014	0.0010	0.0009	0.0009	0.0009	0.0003	0	0.0003	0.0187	0	9.425e-05	0.0102	0.0011	0.0005	0.0014	0.268	0.16144	T	0.114	0.44905	T	0.996	0.68779	D	0.93	0.66466	D	0.000000	0.84330	D	0.085543	0.997174	0.43684	D	1.035	0.25616	L	0.9	0.45248	T	-2.57	0.55501	D	0.665	0.91276	-0.8362	0.52898	T	0.209	0.56812	T	10	0.0072886944	0.00166	T	0.02656	0.49457	D	0.219	0.51417	.	.	0.54294064856	0.53946	0.10906890648319095	0.10835	0.325890546285	0.34736	0.733500659466	0.72018	T	0.043184	0.44593	T	-0.255524	0.13429	T	-0.169898	0.57453	T	0.0353002263818053	0.02860	T	0.850515	0.68393	D	0.46223137	0.64809	0.41840926	0.65866	0.42844704	0.62651	0.43272364	0.66849	-2.703	0.09632	T	.	.	0.272	0.50572	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.649817	0.51790	23.1	0.94645462078591625	0.25246	0.95120	0.63511	D	AEFBI	0.755140	0.69480	D	0.317342865222644	0.57037	3.869821	0.430055078599464	0.63447	4.578478	0.976110644675405	0.29695	0.638212	0.43195	0	0.573888	0.26702	0	0.602189	0.34648	0	0.668105	0.65232	0	.	.	5.72	5.72	0.89380	5.192000	0.64953	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	16.299	0.82622	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	1	0	0	0	0	0	0	0.003525	0.005051	0.000000	0.008772	0.000000	0.008621	0.003049	0.000000	0.02632	1540.33	34	chr2	151512812	.	A	G	1540.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.123;DP=782;ExcessHet=0;FS=6.268;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11;ReadPosRankSum=0.379;SOR=0.626	GT:AD:DP:GQ:PL	0/1:71,69:140:99:1554,0,1922	18	0	1	0
chr2	151609937	151609937	A	T	exonic	NEB	.	nonsynonymous SNV	NEB:NM_004543:exon77:c.T11437A:p.L3813M,NEB:NM_001164507:exon81:c.T12202A:p.L4068M,NEB:NM_001164508:exon81:c.T12202A:p.L4068M,NEB:NM_001271208:exon81:c.T12202A:p.L4068M	Nemaline myopathy 2, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.0173036490897	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.29688	T	0.196	0.27943	T	0.352	0.33688	B	0.24	0.38599	B	0.166795	0.17494	N	0.591503	0.999993	0.21331	N	2.28	0.64929	M	1.44	0.32722	T	-0.02	0.09627	N	0.372	0.47672	-1.0492	0.14621	T	0.078	0.31224	T	10	0.19662213	0.35561	T	0.017304	0.38942	T	0.125	0.34456	0.418	0.45873	0.277730125212	0.27379	0.07964451616888829	0.07899	0.191294756893	0.21457	0.353399753571	0.18422	T	0.014686	0.45350	T	-0.135701	0.30575	T	-0.432701	0.29629	T	0.233373478055	0.22111	T	0.710029	0.37500	T	0.07177624	0.15916	0.067636274	0.14018	0.07177624	0.15916	0.067636274	0.14017	-5.87	0.45178	T	.	.	0.114	0.22644	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.988491	0.13663	10.20	0.97637124474202441	0.35057	0.38465	0.25994	N	AEFBI	0.233654	0.35654	N	-0.487224553010629	0.22499	1.201773	-0.532605383355155	0.21270	1.149837	0.144287950142019	0.17330	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.55	-1.67	0.07798	0.088000	0.14821	.	.	0.756000	0.94297	0.001000	0.13787	0.834000	0.27239	0.999000	0.91618	0.251:0.6224:0.1266:0.0	11.394	0.49071	911	0.21964	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2168.33	40	chr2	151609937	.	A	T	2168.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.137;DP=809;ExcessHet=0;FS=10.898;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=-0.244;SOR=1.434	GT:AD:DP:GQ:PL	0/1:87,79:166:99:2182,0,2262	18	0	1	0
chr2	151680729	151680729	C	T	splicing	NEB	NM_001164507:exon30:c.3042+1G>A;NM_001271208:exon30:c.3042+1G>A;NM_004543:exon30:c.3042+1G>A;NM_001164508:exon30:c.3042+1G>A	.	.	Nemaline myopathy 2, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	1.0000	0.938	YES	939850	Nemaline_myopathy_2	MONDO:MONDO:0009725,MedGen:C1850569,OMIM:256030	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.738e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.936609	0.94117	33	0.99349119721063961	0.60493	0.97623	0.75973	D	AEFBI	.	.	.	1.19148709426811	0.99469	22.96786	1.05788045534202	0.99467	22.95182	0.999998626380482	0.74766	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.058706	0.01089	0	0.989765	0.98485	5.82	5.82	0.92740	5.023000	0.63858	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	18.870	0.92282	863	0.32847	.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1667	1057.71	33	chr2	151680729	.	C	T	1057.71	.	AC=6;AF=0.167;AN=36;BaseQRankSum=-4.359;DP=1767;ExcessHet=2.0135;FS=112.907;InbreedingCoeff=-0.2011;MLEAC=6;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.08;ReadPosRankSum=1.16;SOR=10.796	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:98,31:133:99:.:.:330,0,1976:.	12	0	6	1
chr2	166284701	166284701	T	C	exonic	SCN9A	.	nonsynonymous SNV	SCN9A:NM_001365536:exon12:c.A1726G:p.S576G,SCN9A:NM_002977:exon12:c.A1726G:p.S576G	Epilepsy, generalized, with febrile seizures plus, type 7, Autosomal dominant;Erythermalgia, primary, Autosomal dominant;Febrile seizures, familial, 3B, Autosomal dominant;HSAN2D, autosomal recessive, Autosomal recessive;Insensitivity to pain, congenital, Autosomal recessive;Paroxysmal extreme pain disorder,, Autosomal dominant;Small fiber neuropathy, Autosomal dominant	0	1520	2	0	0	2	0.000657462	.	.	.	516671	Inborn_genetic_diseases|not_provided|Neuropathy,_hereditary_sensory_and_autonomic,_type_2A|Generalized_epilepsy_with_febrile_seizures_plus,_type_7	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300,Orphanet:970|MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863,Orphanet:36387	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.826	0.277108268596	.	.	6.626e-05	0	0	0	0	0.0001	0	6.057e-05	5.17e-05	8	154602	rs202090277	5.747e-05	5.746e-05	4.901e-05	6.601e-05	0.0003	4.743e-05	4.366e-05	6.092e-05	4.424e-05	0.0001	6.708e-05	0	0	0	0.0003	6.026e-05	6.625e-05	3.478e-05	1.314e-05	1.313e-05	0	2.69e-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	0.0	0.91255	D	0.192	0.29740	T	0.999	0.77913	D	0.988	0.77976	D	0.000105	0.50451	D	0.141506	0.999999	0.58761	D	3.32	0.90714	M	-3.49	0.94621	D	-3.8	0.71762	D	0.764	0.79214	1.078	0.98832	D	0.930	0.97679	D	10	0.86584985	0.85829	D	0.277108	0.90096	D	0.826	0.94466	.	.	0.912968498065	0.91209	0.7348260758283284	0.73427	0.267686544496	0.29308	0.60834145546	0.54081	T	0.60113	0.87218	D	0.184983	0.72501	D	0.264608	0.86310	D	0.458898723125458	0.31125	T	0.885211	0.76978	D	0.74847245	0.80779	0.6834253	0.81391	0.74847245	0.80781	0.6834253	0.81392	-12.723	0.89410	D	0.4389746917465869	0.52481	0.243	0.61978	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.141441	0.62054	24.4	0.99750205657026991	0.84228	0.98435	0.82748	D	AEFBI	0.939750	0.94077	D	0.758368586226959	0.83450	8.020429	0.744445317263778	0.85744	8.672114	0.99999999740498	0.74766	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	5.64	5.64	0.86480	7.674000	0.83146	7.910000	0.73981	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.914000	0.44937	0.0:0.0:0.0:1.0	16.145	0.81371	559	0.71409	.;Voltage-gated Na+ ion channel, cytoplasmic domain;.;Voltage-gated Na+ ion channel, cytoplasmic domain;Voltage-gated Na+ ion channel, cytoplasmic domain;.;Voltage-gated Na+ ion channel, cytoplasmic domain	.	.	.	.	.	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	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1824.33	33	chr2	166284701	.	T	C	1824.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.125;DP=787;ExcessHet=0;FS=2.166;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.85;ReadPosRankSum=0.586;SOR=0.93	GT:AD:DP:GQ:PL	0/1:64,78:142:99:1838,0,1831	18	0	1	0
chr2	178548270	178548270	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon167:c.G66161A:p.R22054K,TTN:NM_133432:exon168:c.G66536A:p.R22179K,TTN:NM_133437:exon168:c.G66737A:p.R22246K,TTN:NM_133378:exon288:c.G85652A:p.R28551K,TTN:NM_001256850:exon289:c.G88433A:p.R29478K,TTN:NM_001267550:exon339:c.G93356A:p.R31119K	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.329	0.0695507415634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.484	0.08140	T	.	.	.	0.997	0.70673	D	0.992	0.80445	D	.	.	.	.	0.999999	0.58761	D	0.255	0.09829	N	0.44	0.56609	T	-2.19	0.49352	N	0.336	0.62526	-0.4926	0.68916	T	0.164	0.50111	T	9	0.2601843	0.43465	T	0.069551	0.70760	D	0.329	0.65126	0.502	0.59460	0.295623431141	0.29171	.	.	0.462811898634	0.45803	0.571834206581	0.48937	T	.	.	.	-0.0691412	0.41466	T	-0.337093	0.40673	T	0.404055238150109	0.29095	T	0.824917	0.49142	T	.	.	.	.	.	.	.	.	-3.364	0.14576	T	.	.	0.166	0.36614	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.462565	0.31724	18.83	0.76952904098544417	0.11676	0.98672	0.85404	D	AEFBI	0.924082	0.90157	D	0.47378421032623	0.65565	4.838423	0.539236400038287	0.70653	5.536792	0.999999999999947	0.74766	0.660377	0.49826	0	0.577304	0.33150	0	0.696353	0.63694	0	0.491896	0.07777	0	.	.	5.65	5.65	0.86881	7.905000	0.86479	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.792000	0.37394	0.0:1.0:0.0:0.0	19.727	0.96163	498	0.76166	.;.;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	.	.	.	.	.	.	.	.	0.02632	2542.33	44	chr2	178548270	.	C	T	2542.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.06;DP=1716;ExcessHet=0;FS=1.675;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.25;ReadPosRankSum=0.015;SOR=0.821	GT:AD:DP:GQ:PL	0/1:135,91:226:99:2556,0,3715	18	0	1	0
chr2	178595768	178595768	G	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon123:c.C30391G:p.L10131V,TTN:NM_133432:exon124:c.C30766G:p.L10256V,TTN:NM_133437:exon124:c.C30967G:p.L10323V,TTN:NM_133378:exon244:c.C49882G:p.L16628V,TTN:NM_001256850:exon245:c.C52663G:p.L17555V,TTN:NM_001267550:exon295:c.C57586G:p.L19196V	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	1517	5	0	0	5	0.00164528	.	.	.	56291	not_provided|Ventricular_tachycardia|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Tibial_muscular_dystrophy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|not_specified|Cardiomyopathy|Cardiovascular_phenotype|Early-onset_myopathy_with_fatal_cardiomyopathy	MedGen:C3661900|EFO:EFO_0005306,Human_Phenotype_Ontology:HP:0004756,MONDO:MONDO:0005477,MedGen:C0042514|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:CN169374|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN230736|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.211	0.0220979387438	.	.	0.0003	0.0001	0.0006	0	0	0.0004	0	0	0.0001617	25	154602	rs397517630	0.0001	0.0001	0.0001	0.0001	0.0080	0.0001	0.0001	0.0062	0.0055	5.986e-05	0.0004	0	0	0	0.0080	0.0001	0.0002	0.0001	7.89e-05	7.876e-05	9.002e-05	6.726e-05	0.0002	4.499e-05	3.514e-05	5.292e-05	2.837e-05	2.408e-05	0	0.0002	0	0	0	0.0068	7.355e-05	0	0.0002	0.338	0.14743	T	.	.	.	0.999	0.77913	D	0.998	0.88582	D	.	.	.	.	0.999986	0.58761	D	-0.465	0.02725	N	0.59	0.53943	T	-1.93	0.47344	N	0.417	0.52029	-0.6851	0.61136	T	0.149	0.47575	T	9	0.118359536	0.22374	T	0.022098	0.44952	T	0.211	0.50185	.	.	0.476445137733	0.47274	.	.	0.465770963553	0.46000	0.688776254654	0.65530	T	.	.	.	-0.336574	0.05629	T	-0.408862	0.32357	T	0.070157282122762	0.08673	T	0.915808	0.69967	D	.	.	.	.	.	.	.	.	-1.917	0.02903	T	.	.	0.116	0.23465	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.184873	0.27852	17.60	0.95183854781613619	0.26357	0.97666	0.76269	D	AEFBI	0.877776	0.80262	D	0.414786343581126	0.62233	4.436127	0.494396100619317	0.67616	5.108191	0.997406887977956	0.35583	0.475973	0.10046	0	0.446627	0.06534	0	0.670488	0.60580	0	0.564101	0.26826	0	.	.	6.05	5.16	0.70563	5.016000	0.63806	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1368:0.0:0.8632:0.0	11.656	0.50578	418	0.81602	.;.;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	0.003525	0.000000	0.002717	0.014620	0.000000	0.000000	0.003049	0.000000	0.02632	505.33	37	chr2	178595768	.	G	C	505.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.716;DP=771;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.56;ReadPosRankSum=-1.466;SOR=0.774	GT:AD:DP:GQ:PL	0/1:51,26:77:99:519,0,1532	18	0	1	0
chr2	178774998	178774998	G	A	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon28:c.C6575T:p.T2192M,TTN:NM_133432:exon28:c.C6575T:p.T2192M,TTN:NM_133437:exon28:c.C6575T:p.T2192M,TTN:NM_001256850:exon29:c.C6713T:p.T2238M,TTN:NM_001267550:exon29:c.C6713T:p.T2238M,TTN:NM_133378:exon29:c.C6713T:p.T2238M,TTN:NM_133379:exon29:c.C6713T:p.T2238M	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	1	1518	2	1	0	4	0.00131579	.	.	YES	56495	Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Ventricular_tachycardia|not_provided|Cardiomyopathy|Early-onset_myopathy_with_fatal_cardiomyopathy|Tibial_muscular_dystrophy|Cardiovascular_phenotype|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|not_specified	MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|EFO:EFO_0005306,Human_Phenotype_Ontology:HP:0004756,MONDO:MONDO:0005477,MedGen:C0042514|MedGen:C3661900|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MedGen:CN230736|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.077	0.00600512130116	.	.	0.0002	9.614e-05	0.0003	0	0	0.0003	0	0	0.0001488	23	154602	rs201284459	0.0001	0.0001	0.0001	0.0001	0.0017	0.0001	0.0001	0.0009	0.0007	5.976e-05	0.0004	0	0	0	0.0017	0.0001	0.0002	8.115e-05	5.258e-05	5.254e-05	6.424e-05	4.036e-05	0.0002	2.558e-05	1.831e-05	5.291e-05	2.837e-05	2.413e-05	0	0.0002	0	0	0	0	5.881e-05	0	0	0.143	0.25355	T	1.0	0.01155	T	0.002	0.12996	B	0.002	0.08700	B	.	.	.	.	1	0.08975	N	.	.	.	3.56	0.04696	T	-1.81	0.42575	N	0.15	0.15888	-0.9321	0.43829	T	0.006	0.01944	T	9	0.017633706	0.00378	T	0.006005	0.15668	T	0.077	0.22490	.	.	0.0551355673512	0.04727	.	.	0.0870122964197	0.09816	0.221312403679	0.01387	T	.	.	.	-0.5552	0.00271	T	-0.724765	0.04569	T	0.0199940782040358	0.00700	T	0.484852	0.19565	T	.	.	.	.	.	.	.	.	-3.408	0.15164	T	.	.	0.058	0.00693	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.696875	0.35217	19.84	0.73345169560619428	0.10294	0.08777	0.14656	N	AEFGBI	0.131488	0.25044	N	-1.15273992424132	0.05735	0.2622282	-1.02004009742779	0.09344	0.4643864	0.668219105286703	0.22346	0.516011	0.20929	0	0.601575	0.49859	0	0.573888	0.23631	0	0.586402	0.36253	0	.	.	5.62	2.43	0.28797	2.718000	0.46904	.	.	-0.104000	0.15758	0.110000	0.22992	0.999000	0.35428	0.880000	0.42090	0.3948:0.0:0.4485:0.1567	4.165	0.09768	344	0.85734	.;.;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	0.001512	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1551.33	33	chr2	178774998	.	G	A	1551.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.06;DP=775;ExcessHet=0;FS=1.433;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.03;ReadPosRankSum=-0.21;SOR=0.839	GT:AD:DP:GQ:PL	0/1:67,62:129:99:1565,0,1477	18	0	1	0
chr2	186504215	186504215	G	C	splicing	ZC3H15	NM_018471:exon6:c.717+1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0056	0.0007	0.0006	0.0009	0.0006	0.0006	0.0007	0.0007	0.0006	9.356e-05	0.0004	0.0002	0.0001	0.0009	0.0008	0.0006	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.300962	0.83045	D	0.194535	0.82825	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.169298	0.96223	35	0.9948224112750832	0.66959	0.99140	0.91816	D	ALL	.	.	.	1.14176403290314	0.98836	19.55828	0.977087065195557	0.98133	17.50421	1.0	0.98316	0.17398	0.03958	1	0.011162	0.00042	3	0.199235	0.04519	0	0.113624	0.03431	2	0.984412	0.91620	5.01	5.01	0.66477	9.889000	0.98569	11.679000	0.94198	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:0.0:1.0:0.0	18.684	0.91518	410	0.82135	.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3235	1518.25	38	chr2	186504215	.	G	C	1518.25	.	AC=11;AF=0.324;AN=34;BaseQRankSum=1.56;DP=1053;ExcessHet=18.7922;FS=99.238;InbreedingCoeff=-0.634;MLEAC=12;MLEAF=0.353;MQ=60;MQRankSum=0;QD=2.4;ReadPosRankSum=1.93;SOR=10.057	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:16,23:40:99:.:.:154,0,214:.	6	0	11	2
chr2	197523648	197523648	T	C	exonic	HSPE1-MOB4;MOB4	.	nonsynonymous SNV	MOB4:NM_015387:exon2:c.T85C:p.S29P,HSPE1-MOB4:NM_001202485:exon3:c.T193C:p.S65P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.267	0.00959765325218	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.265e-05	0.0013	8.89e-05	9.642e-05	0.0001	7.932e-05	7.455e-05	9.055e-05	8.505e-05	3.135e-05	0	0.0001	0	0	0	0.0001	8.651e-05	8.389e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.579	0.08535	T	0.0	0.02946	B	0.001	0.04355	B	0.000000	0.84330	D	0.053972	0.999993	0.81001	D	-1.795	0.00292	N	.	.	.	1.18	0.01107	N	0.438	0.48042	-0.9766	0.35772	T	0.034	0.14813	T	9	0.10651526	0.19742	T	0.009598	0.25107	T	0.267	0.58126	0.341	0.33302	0.043077524339	0.03247	0.669975451478545	0.66935	1.34794577022	0.84014	0.778468906879	0.78697	T	0.055673	0.30073	T	0.0500577	0.58352	T	-0.165872	0.57820	T	0.811242938041687	0.47136	D	0.892711	0.63097	D	0.20700711	0.42893	0.20881961	0.45200	0.20700711	0.42893	0.20881961	0.45199	-0.876	0.00872	T	.	.	0.084	0.09820	B	.;.	.;.	3.297964	0.45264	22.1	0.8980768734361223	0.19119	0.98559	0.84088	D	AEFBI	0.838587	0.75609	D	-0.516315308048682	0.21553	1.144632	-0.200201322439165	0.31530	1.785231	0.986724794269661	0.31114	0.732398	0.92422	0	0.724815	0.89359	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.02	5.02	0.66742	5.652000	0.67632	7.608000	0.61804	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.399	0.66596	474	0.77851	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4722	5666.6	35	chr2	197523648	.	T	C	5666.6	.	AC=17;AF=0.472;AN=36;BaseQRankSum=-1.356;DP=1595;ExcessHet=31.086;FS=383.252;InbreedingCoeff=-0.8661;MLEAC=18;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.89;ReadPosRankSum=0.863;SOR=12.723	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:62,50:112:99:.:.:438,0,966:.	1	0	17	1
chr2	206305315	206305315	C	T	exonic	ZDBF2	.	nonsynonymous SNV	ZDBF2:NM_020923:exon5:c.C787T:p.R263C,ZDBF2:NM_001369654:exon6:c.C787T:p.R263C,ZDBF2:NM_001285549:exon7:c.C781T:p.R261C	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00689105057657	.	.	4.371e-05	0	0	0.0001	0	0	0	0.0003	3.88e-05	6	154602	rs749077567	1.301e-05	1.3e-05	9.539e-06	1.653e-05	0.0002	8.32e-06	6.71e-06	0.0001	9.488e-05	0	0	0	2.521e-05	0	0	1.8e-06	0	0.0002	1.315e-05	1.314e-05	0	2.692e-05	6.556e-05	2.19e-06	8.2e-07	.	.	2.414e-05	0	6.556e-05	0	0	0	0	0	0	0	0.223	0.18757	T	0.09	0.40267	T	0.001	0.07471	B	0.001	0.04355	B	0.043743	0.01924	N	2.387210	1	0.08975	N	-0.425	0.02884	N	2.2	0.18570	T	1.58	0.00668	N	0.042	0.01498	-1.0304	0.20325	T	0.020	0.08313	T	10	0.03088206	0.01218	T	0.006891	0.18233	T	0.026	0.05648	0.315	0.29096	0.0806252709748	0.07271	0.029732379500074544	0.02922	0.286669972311	0.31060	0.154909521341	0.00006	T	7.1E-4	0.00840	T	-0.59275	0.00161	T	-0.793029	0.02082	T	0.040365837699199	0.03756	T	.	.	.	0.03760651	0.04853	0.02099958	0.00167	0.03760651	0.04852	0.02099958	0.00167	-4.598	0.32147	T	.	.	0.081	0.13783	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.136209	0.05307	1.801	0.65937486326552408	0.07915	0.00500	0.02358	N	AEFBI	0.022445	0.01122	N	-1.88651903281729	0.00366	0.01572227	-1.98281414364662	0.00333	0.01469636	0.9999998595965	0.74766	0.643511	0.44296	0	0.688494	0.66719	0	0.670488	0.60580	0	0.655142	0.61905	0	.	.	4.92	-9.85	0.00395	-0.957000	0.03971	-2.137000	0.04158	-1.081000	0.01566	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.161:0.2598:0.3379:0.2412	2.064	0.03380	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	.	.	.	.	.	.	.	.	0.02632	2401.33	34	chr2	206305315	.	C	T	2401.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.23;DP=1558;ExcessHet=0;FS=6.814;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.92;ReadPosRankSum=0.485;SOR=1.08	GT:AD:DP:GQ:PL	0/1:78,83:161:99:2415,0,1865	18	0	1	0
chr2	218696531	218696531	G	A	exonic	STK36	.	nonsynonymous SNV	STK36:NM_001369423:exon22:c.G2516A:p.R839Q,STK36:NM_015690:exon22:c.G2516A:p.R839Q	.	432	1067	21	2	0	25	0.0115794	.	.	.	719614	STK36-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.016	.	0.0067	0.00499201	0.0080	0.0008	0.0020	0.0003	0.0115	0.0108	0.0055	0.0082	0.0078071	1207	154602	rs13023540	0.0078	0.0078	0.0077	0.0078	0.0085	0.0076	0.0076	0.0083	0.0083	0.0009	0.0028	0.0003	5.038e-05	0.0139	0.0021	0.0085	0.0067	0.0073	0.0062	0.0062	0.0063	0.0061	0.0097	0.0059	0.0057	0.0091	0.0088	0.0012	0.0044	0.0027	0	0.0004	0.0142	0	0.0097	0.0066	0.0052	0.218	0.19090	T	0.633	0.07127	T	0.964	0.55854	D	0.289	0.40655	B	0.000840	0.41547	D	0.000000	1	0.81001	D	2.4	0.69460	M	-0.46	0.70014	T	-0.62	0.18248	N	0.157	0.16725	-0.9708	0.37030	T	0.103	0.37894	T	10	0.0047221184	0.00099	T	.	.	.	0.094	0.27141	.	.	0.758441514024	0.75625	0.2747308017526561	0.27386	0.338949971352	0.35853	0.388024359941	0.23391	T	0.118418	0.43922	T	-0.375377	0.03331	T	-0.301591	0.44557	T	0.0114167901091856	0.00170	T	0.817118	0.47377	T	0.060002606	0.12260	0.05583777	0.09868	0.060002606	0.12260	0.05583777	0.09867	-3.024	0.10442	T	.	.	0.090	0.12512	B	.;.	.;.	2.997196	0.40031	21.1	0.99902731577144455	0.97426	0.82890	0.42059	D	AEFBI	0.178238	0.30550	N	0.147581823396023	0.48699	3.078887	0.233824552593028	0.51734	3.353413	0.103093068718456	0.16436	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.43	4.55	0.55429	2.813000	0.47701	7.576000	0.60835	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.880000	0.42090	0.1645:0.0:0.8355:0.0	9.378	0.37460	811	0.42639	.;.	AC053503.4|BCS1L|STK36|STK36	Kidney_Cortex|Nerve_Tibial|Nerve_Tibial|Pituitary	STK36	Testis	rs13023540	Likely benign	0	0	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	0.003788	0.05263	5281.83	33	chr2	218696531	.	G	A	5281.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=4.26;DP=1050;ExcessHet=0.119;FS=1.108;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.9;ReadPosRankSum=0.884;SOR=0.8	GT:AD:DP:GQ:PL	0/1:99,102:201:99:2807,0,2344	17	0	2	0
chr2	224876067	224876067	C	T	exonic	DOCK10	.	nonsynonymous SNV	DOCK10:NM_001290263:exon8:c.G884A:p.R295K,DOCK10:NM_001363762:exon8:c.G941A:p.R314K,DOCK10:NM_014689:exon8:c.G902A:p.R301K	.	427	1080	14	1	0	16	0.00735294	.	.	.	2818983	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.101	0.00369490155213	0.0026	0.00119808	0.0021	0.0028	0.0014	0	0.0008	0.0028	0.0011	0.0012	0.0021798	337	154602	rs180691490	0.0020	0.0020	0.0020	0.0020	0.0099	0.0019	0.0019	0.0078	0.0071	0.0022	0.0027	0.0040	0	0.0003	0.0099	0.0021	0.0026	0.0008	0.0025	0.0025	0.0026	0.0024	0.0042	0.0023	0.0022	0.0034	0.0031	0.0019	0	0.0042	0.0029	0	0.0002	0.0102	0.0030	0.0033	0.0008	0.654	0.04786	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000000	0.84330	N	0.089059	0.998972	0.21747	N	-0.895	0.01383	N	4.04	0.03121	T	0.18	0.07444	N	0.066	0.04307	-0.9096	0.46904	T	0.004	0.01261	T	10	0.0065520704	0.00148	T	0.003695	0.08527	T	0.101	0.28911	.	.	0.337621943819	0.33374	0.23291971021446928	0.23206	0.156396254559	0.17651	0.335184276104	0.15715	T	0.016191	0.13433	T	-0.675256	0.00051	T	-0.745785	0.03652	T	0.0115443909339612	0.00174	T	0.776822	0.40920	T	0.057521734	0.11460	0.044186946	0.05669	0.057521734	0.11459	0.044186946	0.05669	-1.975	0.03363	T	.	.	0.065	0.02861	B	.;.;.	.;.;.	1.613232	0.20610	14.83	0.54172775093694581	0.05085	0.60802	0.31300	D	AEFDGBHCI	0.145618	0.26887	N	-0.492230622636038	0.22334	1.191879	-0.259131156653793	0.29459	1.650561	0.999991894807102	0.74766	0.732398	0.92422	0	0.648423	0.57943	0	0.573888	0.23631	0	0.727631	0.95156	0	.	.	5.76	3.7	0.41607	4.795000	0.62183	2.238000	0.31588	0.599000	0.40250	1.000000	0.71638	0.980000	0.30356	0.582000	0.30943	0.0:0.5068:0.0:0.4932	4.155	0.09720	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	0	0	1	0	0.009082	0.000000	0.014946	0.005882	0.000000	0.017241	0.009202	0.003788	0.02632	588.33	33	chr2	224876067	.	C	T	588.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.7;DP=678;ExcessHet=0;FS=4.372;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.52;ReadPosRankSum=2.67;SOR=0.264	GT:AD:DP:GQ:PL	0/1:28,19:47:99:602,0,758	18	0	1	0
chr2	227098696	227098696	G	A	exonic	COL4A4	.	nonsynonymous SNV	COL4A4:NM_000092:exon19:c.C1202T:p.A401V	Alport syndrome, autosomal recessive, Autosomal recessive;Hematuria, familial benign (3)	0	1513	7	2	0	11	0.003622	0.8343	0.73	YES	496718	not_specified|Alport_syndrome|not_provided|Kidney_disorder	MedGen:CN169374|MONDO:MONDO:0018965,MedGen:C1567741,OMIM:PS301050,Orphanet:63|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000112,MONDO:MONDO:0005240,MedGen:C0022658	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.227	.	.	0.00319489	0.0030	0.0001	0.0002	0.0001	0	0.0003	0.0023	0.0202	0.0025291	391	154602	rs199581317	0.0012	0.0012	0.0007	0.0018	0.0182	0.0012	0.0012	0.0174	0.0171	8.965e-05	2.236e-05	0.0031	5.039e-05	0	0.0043	1.71e-05	0.0013	0.0182	0.0006	0.0006	0.0003	0.0009	0.0172	0.0005	0.0004	0.0142	0.0131	0	0	0	0.0006	0	0	0	2.94e-05	0.0005	0.0172	0.334	0.12961	T	0.297	0.20551	T	0.005	0.12996	B	0.008	0.13708	B	.	.	.	.	0.99998	0.18612	N	0	0.06538	N	-3.28	0.93691	D	-1.19	0.30346	N	0.163	0.17140	-0.3370	0.73930	T	0.675	0.88751	D	9	0.008965433	0.00203	T	.	.	.	0.227	0.52620	.	.	0.612470515539	0.60935	0.16943269369724265	0.16863	0.573937016384	0.53438	0.334677904844	0.15639	T	0.369343	0.73407	T	-0.383068	0.02979	T	-0.308091	0.43864	T	0.0231892007287518	0.01046	T	0.216378	0.02701	T	0.054112643	0.10336	0.0782109	0.17497	0.054112643	0.10336	0.0782109	0.17497	-1.711	0.02258	T	0.13748597104781216	0.15132	0.084	0.09530	B	.	.	3.275365	0.44858	22.0	0.99826748803389598	0.90939	0.40419	0.26432	N	AEFI	0.103564	0.20745	N	-0.328326831787421	0.28076	1.54563	-0.226970553168699	0.30574	1.722628	2.5949837220943E-5	0.03498	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.71	2.38	0.28415	1.997000	0.40406	4.789000	0.44887	0.618000	0.50648	0.985000	0.35982	1.000000	0.68203	0.924000	0.46004	0.1924:0.0:0.6421:0.1654	5.399	0.15586	910	0.22284	.	.	.	.	.	.	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	0.002523	0.000000	0.000000	0.002924	0.000000	0.000000	0.003067	0.011364	0.02632	908.33	39	chr2	227098696	.	G	A	908.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.398;DP=717;ExcessHet=0;FS=8.979;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.87;ReadPosRankSum=0.354;SOR=1.6	GT:AD:DP:GQ:PL	0/1:55,37:92:99:922,0,1468	18	0	1	0
chr2	232526593	232526593	C	G	exonic	CHRND	.	nonsynonymous SNV	CHRND:NM_000751:exon2:c.C117G:p.N39K,CHRND:NM_001256657:exon2:c.C117G:p.N39K	Multiple pterygium syndrome, lethal type, Autosomal recessive;Myasthenic syndrome, congenital, 3B, fast-channel, Autosomal recessive	0	1506	15	1	0	17	0.00561241	.	.	.	192261	Lethal_multiple_pterygium_syndrome|Congenital_myasthenic_syndrome|not_specified|not_provided	MONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290,Orphanet:33108|MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462,Orphanet:590|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.399	.	0.0012	0.00698882	0.0054	0.0007	0.0192	0.0282	0	0.0018	0.0033	0.0035	0.0050064	774	154602	rs77084550	0.0035	0.0035	0.0035	0.0035	0.0371	0.0034	0.0034	0.0356	0.0349	0.0004	0.0167	0.0002	0.0371	0.0002	0.0024	0.0021	0.0035	0.0036	0.0034	0.0035	0.0031	0.0038	0.0261	0.0032	0.0031	0.0225	0.0212	0.0008	0	0.0118	0	0.0261	0	0.0034	0.0021	0.0038	0.0052	0.034	0.46513	D	0.021	0.66756	D	0.005	0.12996	B	0.012	0.16012	B	0.144507	0.18176	N	0.600408	0.997896	0.81001	D	2.225	0.63025	M	-1.28	0.79376	T	-3.95	0.74661	D	0.354	0.39659	-0.3769	0.72748	T	0.239	0.60714	T	10	0.009984076	0.00224	T	.	.	.	0.399	0.71321	0.6	0.73105	0.88740826396	0.88630	0.7436477591924203	0.74310	0.317858102707	0.34021	0.346195936203	0.17360	T	0.568302	0.85664	D	-0.337794	0.05543	T	-0.238397	0.50954	T	0.0432244219231061	0.04278	T	0.711729	0.33319	T	0.3508388	0.57132	0.4699316	0.69260	0.45212847	0.64176	0.44910714	0.67932	-9.847	0.80872	D	0.4331470553667841	0.51994	0.524	0.65652	A	.;.;.	.;.;.	2.951193	0.39270	20.9	0.99236705885937471	0.56405	0.96189	0.67943	D	AEFDBI	0.691942	0.65177	D	-0.175572978887102	0.34153	1.946022	-0.14906041906412	0.33445	1.913175	0.999999366420887	0.74766	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.73	3.84	0.43422	2.012000	0.40551	0.131000	0.15046	0.599000	0.40250	1.000000	0.71638	0.479000	0.25092	0.964000	0.52637	0.155:0.6956:0.1494:0.0	10.096	0.41651	917	0.20147	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	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.003021	0.000000	0.000000	0.002924	0.000000	0.000000	0.006098	0.011364	0.02632	1056.33	33	chr2	232526593	.	C	G	1056.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.872;DP=739;ExcessHet=0;FS=1.755;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.43;ReadPosRankSum=2.53;SOR=0.901	GT:AD:DP:GQ:PL	0/1:39,46:85:99:1070,0,950	18	0	1	0
chr2	232544900	232544900	A	G	exonic	CHRNG	.	nonsynonymous SNV	CHRNG:NM_005199:exon11:c.A1378G:p.N460D	Escobar syndrome, Autosomal recessive;Multiple pterygium syndrome, lethal type, Autosomal recessive	0	1511	10	1	0	12	0.00395517	0.0024	0.172	.	285318	CHRNG-associated_hypo-akinesia_disorder_of_prenatal_onset|Lethal_multiple_pterygium_syndrome|not_provided|Autosomal_recessive_multiple_pterygium_syndrome	MONDO:MONDO:0100158,MedGen:CN323274|MONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290,Orphanet:33108|MedGen:C3661900|MONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000,Orphanet:2990	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.242	0.0511886734335	0.0002	0.000399361	0.0005	0.0002	8.688e-05	0	0	0.0002	0	0.0023	0.0003687	57	154602	rs138232636	0.0003	0.0003	0.0002	0.0004	0.0022	0.0003	0.0002	0.0019	0.0018	2.987e-05	0.0002	0	0	0	0.0016	0.0002	0.0004	0.0022	0.0003	0.0003	0.0001	0.0004	0.0033	0.0002	0.0002	0.0021	0.0017	0.0001	0	0.0005	0	0	0	0	0.0001	0.0005	0.0033	0.28	0.15509	T	0.66	0.25286	T	0.005	0.12996	B	0.008	0.13708	B	0.877419	0.08780	U	0.905665	0.977844	0.25287	N	1.525	0.38595	L	-1.89	0.84557	D	-0.45	0.14782	N	0.206	0.27792	-0.4928	0.68909	T	0.468	0.79476	T	10	0.011244088	0.00247	T	0.051189	0.64555	D	0.242	0.54781	.	.	0.844340815084	0.84284	.	.	0.245959487969	0.27123	0.304541051388	0.11082	T	0.12043	0.44266	T	-0.402167	0.02241	T	-0.357246	0.38371	T	0.079155748262095	0.09877	T	0.787421	0.42899	T	0.31829092	0.54495	0.3117458	0.57179	0.27824175	0.50879	0.30706838	0.56729	-1.848	0.02656	T	.	.	0.074	0.05188	B	.;.	.;.	3.516897	0.49280	22.8	0.99295945375523942	0.58433	0.75340	0.36883	D	AEFDBCI	0.533927	0.55318	D	-0.0778507318527609	0.38364	2.245899	0.0466743801742749	0.41912	2.525969	0.99999999787588	0.74766	0.421363	0.06395	0	0.550933	0.16991	0	0.514364	0.09456	0	0.727631	0.95156	0	.	.	4.88	4.88	0.63131	6.360000	0.73005	5.858000	0.50403	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.819000	0.38590	1.0:0.0:0.0:0.0	14.153	0.64936	917	0.20147	Neurotransmitter-gated ion-channel transmembrane domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.02632	826.33	36	chr2	232544900	.	A	G	826.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.399;DP=717;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.32;ReadPosRankSum=-0.782;SOR=0.6	GT:AD:DP:GQ:PL	0/1:40,33:73:99:840,0,1080	18	0	1	0
chr2	232847517	232847517	A	0	exonic	GIGYF2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4211	7129.64	35	chr2	232847517	.	A	*	7129.64	.	AC=16;AF=0.421;AN=38;BaseQRankSum=-0.589;DP=2245;ExcessHet=1.0106;FS=0.551;InbreedingCoeff=0.0526;MLEAC=16;MLEAF=0.421;MQ=60;MQRankSum=0;QD=3.69;ReadPosRankSum=0.451;SOR=0.748	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,174:174:99:.:.:7503,524,0:.	6	3	10	0
chr2	233320749	233320749	G	A	exonic	SAG	.	nonsynonymous SNV	SAG:NM_000541:exon5:c.G301A:p.A101T	Oguchi disease-1, Autosomal recessive;Retinitis pigmentosa 47	0	1474	42	6	0	54	0.017988	.	.	.	177079	Retinal_dystrophy|not_provided|Retinitis_pigmentosa|Oguchi_disease|not_specified	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:0019152,MedGen:C1306122,Orphanet:75382|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.082	.	0.0053	0.00519169	0.0072	0.0009	0.0108	0.0007	0.0003	0.0096	0.0111	0.0057	0.0046183	714	154602	rs141521563	0.0055	0.0055	0.0054	0.0056	0.0217	0.0054	0.0054	0.0186	0.0174	0.0014	0.0065	0.0039	7.618e-05	0.0008	0.0217	0.0060	0.0060	0.0039	0.0049	0.0049	0.0052	0.0047	0.0103	0.0047	0.0045	0.0090	0.0085	0.0012	0.0022	0.0103	0.0037	0	0.0005	0.0442	0.0070	0.0109	0.0033	0.388	0.11406	T	0.478	0.11968	T	0.016	0.17332	B	0.005	0.11217	B	0.738102	0.09799	N	0.890096	1	0.08975	N	0.27	0.09956	N	2.62	0.12988	T	0.04	0.06488	N	0.085	0.06190	-0.9528	0.40485	T	0.013	0.04985	T	10	0.00363034	0.00066	T	.	.	.	0.082	0.23913	.	.	0.254244900254	0.25046	0.17835848608187713	0.17754	0.116900116094	0.13183	0.233760118484	0.02257	T	0.039324	0.25150	T	-0.703368	0.00035	T	-0.779948	0.02455	T	0.00457881012053394	0.00049	T	.	.	.	0.048743807	0.08546	0.047433566	0.06829	0.060242333	0.12337	0.04567798	0.06200	-3.757	0.20164	T	.	.	0.062	0.01367	B	.;.	.;.	1.185281	0.15760	12.08	0.96521220570154986	0.30115	0.04053	0.09499	N	AEFDBI	0.087851	0.17813	N	-0.980965216979719	0.09011	0.4247244	-1.01176104578037	0.09525	0.4744348	0.744458308868908	0.23263	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.46	-0.751	0.10518	-0.611000	0.05718	-1.023000	0.06573	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.156000	0.20513	0.2868:0.244:0.2244:0.2448	0.131	0.00068	861	0.33516	Arrestin-like, N-terminal;Arrestin-like, 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	0.016113	0.010101	0.023098	0.008772	0.000000	0.034483	0.018293	0.011364	0.05263	3313.83	34	chr2	233320749	.	G	A	3313.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.725;DP=901;ExcessHet=0.119;FS=2.053;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.09;ReadPosRankSum=-0.257;SOR=0.561	GT:AD:DP:GQ:PL	0/1:73,73:146:99:1820,0,1814	17	0	2	0
chr2	233729862	233729862	G	T	exonic	UGT1A3	.	nonsynonymous SNV	UGT1A3:NM_019093:exon1:c.G736T:p.V246L	.	418	1092	9	3	0	15	0.00682128	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.0202958720907	0.0003	0.000399361	0.0008	0	0.0005	0.0001	0	0.0011	0.0022	0.0008	0.000705	109	154602	rs146461519	0.0005	0.0005	0.0004	0.0006	0.0075	0.0005	0.0005	0.0057	0.0051	0.0001	0.0009	0.0011	2.519e-05	3.744e-05	0.0075	0.0004	0.0012	0.0013	0.0004	0.0004	0.0004	0.0004	0.0008	0.0004	0.0003	0.0005	0.0005	7.226e-05	0	0.0005	0.0012	0	0	0.0068	0.0007	0.0005	0.0008	0.647	0.04897	T	0.671	0.06284	T	0.88	0.48402	P	0.651	0.52497	P	.	.	.	.	1	0.08975	N	0.65	0.16133	N	0.14	0.60854	T	-0.12	0.08809	N	0.051	0.02272	-1.0446	0.15942	T	0.103	0.37869	T	9	0.020301044	0.00466	T	0.020296	0.42866	T	0.107	0.30369	0.35	0.34760	0.556500605119	0.55309	0.23874016186969665	0.23788	0.0746738777092	0.08380	.	.	.	0.062271	0.31873	T	-0.539274	0.00338	T	-0.592958	0.13411	T	0.0331653533117172	0.02498	T	0.250275	0.03772	T	0.057707038	0.11518	0.05807759	0.10671	0.057707038	0.11517	0.05807759	0.10670	-1.683	0.02185	T	0.11112597090426783	0.09469	0.163	0.36073	B	.	.	0.536588	0.09050	5.835	0.69367463529244211	0.08949	0.09681	0.15382	N	AEFBI	0.755393	0.69497	D	-0.722585577991354	0.15387	0.7750542	-0.823032687513184	0.13937	0.7257032	0.00719069019561272	0.11405	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.0	3.1	0.34780	-0.661000	0.05410	-2.619000	0.03542	0.520000	0.23804	0.000000	0.06391	0.000000	0.08366	0.043000	0.14563	0.0899:0.3876:0.3797:0.1428	4.207	0.09952	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	0.007617	0.000000	0.013661	0.008333	0.055556	0.008621	0.006494	0.007752	0.05263	6687.83	34	chr2	233729862	.	G	T	6687.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.27;DP=1823;ExcessHet=0.119;FS=1.11;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=59.95;MQRankSum=0.968;QD=13.24;ReadPosRankSum=-0.41;SOR=0.84	GT:AD:DP:GQ:PL	0/1:133,128:261:99:3448,0,3657	17	0	2	0
chr2	237340980	237340980	C	G	exonic	COL6A3	.	nonsynonymous SNV	COL6A3:NM_057166:exon35:c.G6115C:p.V2039L,COL6A3:NM_057167:exon37:c.G7318C:p.V2440L,COL6A3:NM_004369:exon38:c.G7936C:p.V2646L	Bethlem myopathy 1, Autosomal recessive, Autosomal dominant;Dystonia 27, Autosomal recessive;Ullrich congenital muscular dystrophy 1, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1292544	Inborn_genetic_diseases|not_provided|Bethlem_myopathy_1A	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0024530,MedGen:CN029274,OMIM:158810,Orphanet:610	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.344	0.089173137264	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1419214464	6.841e-06	6.84e-06	6.806e-06	6.875e-06	7.194e-06	3.46e-06	2.52e-06	3.09e-06	2.24e-06	0	0	0	0	0	0	7.194e-06	3.312e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	0.16038	T	0.003	0.76473	D	0.005	0.59044	B	0.01	0.65999	B	0.006785	0.31798	N	0.140523	0.999921	0.19486	N	1.25	0.31749	L	-1.84	0.84195	D	-0.44	0.14588	N	0.493	0.61002	-0.3220	0.74366	T	0.557	0.83831	D	10	0.35792542	0.52497	T	0.089173	0.75275	D	0.344	0.66582	.	.	0.82535041295	0.82370	0.363650839497409	0.36279	0.144877207135	0.16365	0.477469027042	0.35708	T	0.157488	0.50011	T	0.0140567	0.53576	T	-0.217585	0.52969	T	0.037122156471014	0.03177	T	0.910709	0.68343	D	0.044062667	0.06977	0.048346225	0.07162	0.044062667	0.06977	0.048346225	0.07161	-5.35	0.40435	T	0.4123862355351214	0.50249	0.168	0.37539	B	.;.;.;.;.	.;.;.;.;.	3.101520	0.41800	21.4	0.90727658460681371	0.19977	0.50918	0.28774	D	AEFBI	0.311233	0.41702	N	-0.476911408239556	0.22839	1.222334	-0.41513728000773	0.24553	1.345141	0.99503561979057	0.33919	0.632932	0.41330	0	0.59043	0.45803	0	0.601832	0.32385	0	0.542086	0.14980	0	.	.	5.05	2.12	0.26372	1.044000	0.29939	1.364000	0.25903	-0.193000	0.09282	0.386000	0.26055	0.998000	0.33993	0.990000	0.65344	0.0:0.7736:0.0:0.2264	10.409	0.43465	955	0.09969	.;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;.;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1685.33	33	chr2	237340980	.	C	G	1685.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.16;DP=796;ExcessHet=0;FS=3.899;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.62;ReadPosRankSum=-1.149;SOR=0.958	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:83,62:145:99:0|1:237340980_C_G:1699,0,2318:237340980	18	0	1	0
chr2	240130020	240130020	C	G	exonic	COPS9	.	nonsynonymous SNV	COPS9:NM_138336:exon4:c.G272C:p.G91A	.	427	1078	16	1	0	18	0.00827967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	.	0.0037	0.0115815	0.0101	0.0018	0.0033	0.0002	0.0008	0.0042	0.0144	0.0515	0.0086286	1334	154602	rs115716357	0.0059	0.0059	0.0047	0.0071	0.0470	0.0058	0.0057	0.0458	0.0453	0.0010	0.0030	0.0193	0.0001	0.0005	0.0118	0.0030	0.0078	0.0470	0.0041	0.0042	0.0038	0.0045	0.0462	0.0039	0.0038	0.0413	0.0393	0.0008	0.0055	0.0044	0.0181	0	0.0003	0.0102	0.0032	0.0062	0.0462	0.0	0.91255	D	0.0	0.92824	D	0.337	0.33382	B	0.038	0.23361	B	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-1.78	0.42001	N	0.215	0.24010	-1.0377	0.18016	T	0.037	0.15899	T	7	0.0024957657	0.00038	T	.	.	.	0.011	0.01250	.	.	0.0297737177859	0.01360	0.047931641576438616	0.04736	0.202601885681	0.22681	0.344620317221	0.17126	T	.	.	.	-0.624069	0.00104	T	-0.633438	0.10156	T	0.0118260331577385	0.00183	T	0.306369	0.05889	T	.	.	.	.	.	.	.	.	-3.158	0.11975	T	.	.	0.145	0.31931	B	.	.	0.147951	0.05405	1.883	0.98719788304269318	0.45186	0.05368	0.11229	N	AEFDBCI	0.027371	0.02223	N	-0.863289464914987	0.11724	0.5673902	-1.02932197752064	0.09144	0.4532831	0.928712867865185	0.26940	0.498214	0.20090	0	0.572659	0.20510	0	0.486962	0.07600	0	0.714379	0.83352	0	.	.	1.48	0.499	0.16119	-0.052000	0.11821	-1.597000	0.05092	0.531000	0.24825	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7043:0.0:0.2957	3.479	0.07160	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	0.022681	0.035354	0.014946	0.014706	0.100000	0.008621	0.012270	0.041667	0.02632	1423.33	37	chr2	240130020	.	C	G	1423.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.17;DP=828;ExcessHet=0;FS=3.109;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.3;ReadPosRankSum=0.715;SOR=0.967	GT:AD:DP:GQ:PL	0/1:96,57:153:99:1437,0,2538	18	0	1	0
chr2	241634014	241634014	G	A	exonic	THAP4	.	nonsynonymous SNV	THAP4:NM_015963:exon2:c.C143T:p.T48I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.640	0.11557647212	.	.	.	.	.	.	.	.	.	.	.	.	.	rs891659131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.51248	D	0.007	0.69154	D	0.999	0.77913	D	0.998	0.88582	D	0.001644	0.38382	N	0.221174	0.995697	0.42811	D	0.99	0.25021	L	-3.98	0.96277	D	-1.36	0.33798	N	0.708	0.71143	1.016	0.97469	D	0.896	0.96555	D	10	0.74060917	0.74930	D	0.115576	0.79480	D	0.640	0.86283	0.442	0.49811	0.986036891696	0.98588	0.3572613686981577	0.35640	1.39497567221	0.85071	0.805538952351	0.82808	D	0.422774	0.77374	T	0.211356	0.74956	D	0.0658217	0.74632	D	0.907368302345276	0.56163	D	0.787421	0.42665	T	0.1457358	0.33394	0.11479748	0.27712	0.1457358	0.33394	0.11479748	0.27711	-6.625	0.51244	T	.	.	0.129	0.27672	B	.	.	3.945835	0.57774	23.9	0.99909162124801898	0.97875	0.96618	0.70046	D	AEFDBI	0.766200	0.70245	D	0.647629528135833	0.76216	6.445571	0.646254958118646	0.78333	6.854974	0.999999995295803	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.93	4.93	0.64394	4.234000	0.58458	9.614000	0.81092	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	16.700	0.85205	970	0.06235	THAP-type zinc finger|THAP-type zinc finger|THAP-type zinc finger|THAP-type zinc finger	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1696.33	34	chr2	241634014	.	G	A	1696.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.07;DP=823;ExcessHet=0;FS=1.672;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.8;ReadPosRankSum=-1.72;SOR=0.946	GT:AD:DP:GQ:PL	0/1:42,59:101:99:1710,0,927	18	0	1	0
chr2	241653596	241653596	G	A	exonic	ATG4B	.	nonsynonymous SNV	ATG4B:NM_013325:exon4:c.G269A:p.R90Q,ATG4B:NM_178326:exon4:c.G269A:p.R90Q	.	428	1066	27	1	0	29	0.0134197	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.139	.	0.0074	0.00379393	0.0133	0.0019	0.0151	0	0.0038	0.0217	0.0203	0.0059	0.0054721	846	154602	rs143448469	0.0084	0.0084	0.0086	0.0082	0.0115	0.0083	0.0083	0.0094	0.0093	0.0012	0.0061	0.0085	0	0.0019	0.0115	0.0095	0.0081	0.0058	0.0063	0.0063	0.0069	0.0056	0.0101	0.0060	0.0058	0.0095	0.0092	0.0020	0	0.0059	0.0089	0.0002	0.0014	0.0170	0.0101	0.0085	0.0052	0.161	0.31834	T	0.322	0.20100	T	0.556	0.38244	P	0.091	0.30945	B	0.000000	0.84330	D	0.047151	1	0.81001	D	2.23	0.63091	M	0.95	0.43279	T	-1.7	0.50992	N	0.368	0.42149	-1.0923	0.05159	T	0.069	0.28379	T	10	0.011255324	0.00247	T	.	.	.	0.139	0.37390	.	.	0.481781477641	0.47810	0.6773881101384202	0.67677	0.531207737867	0.50628	0.730025172234	0.71509	T	0.192883	0.54817	T	-0.431599	0.01450	T	-0.383344	0.35330	T	0.0161125259673247	0.00388	T	0.90111	0.76517	D	0.22813143	0.45527	0.14164001	0.33723	0.22813143	0.45527	0.14164001	0.33722	-10.691	0.78884	D	.	.	0.102	0.30291	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.449558	0.48029	22.5	0.99368769700867821	0.61326	0.86693	0.46028	D	AEFDGBHCI	0.595943	0.59030	D	-0.0734414435126395	0.38560	2.260309	0.0329078568499295	0.41254	2.475339	0.999999999999996	0.74766	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	3.977000	0.56581	6.481000	0.55737	-0.113000	0.14837	1.000000	0.71638	1.000000	0.68203	0.832000	0.39227	0.0767:0.0:0.9233:0.0	13.453	0.60636	976	0.04745	.;.;.;.;.;.;.;.	GAL3ST2|AC114730.3	Adipose_Subcutaneous|Artery_Aorta	D2HGDH	Nerve_Tibial	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007107	0.005208	0.009537	0.005882	0.000000	0.000000	0.009317	0.007634	0.07895	3393.79	36	chr2	241653596	.	G	A	3393.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.472;DP=820;ExcessHet=0.3672;FS=1.555;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=13.31;ReadPosRankSum=1.21;SOR=0.801	GT:AD:DP:GQ:PL	0/1:45,43:88:99:1107,0,1201	16	0	3	0
chr3	12574864	12574864	A	G	exonic	MKRN2	.	nonsynonymous SNV	MKRN2:NM_001271707:exon4:c.A586G:p.S196G,MKRN2:NM_014160:exon5:c.A715G:p.S239G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.374	0.0718510612964	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1438570246	4.104e-06	4.104e-06	5.445e-06	2.75e-06	4.472e-05	1.48e-06	9.7e-07	7.41e-06	2.77e-06	0	4.472e-05	0	0	0	0	3.597e-06	0	0	6.568e-06	6.566e-06	1.284e-05	0	6.541e-05	0	0	.	.	0	0	6.541e-05	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.999	0.77913	D	0.97	0.72226	D	0.000006	0.62929	D	0.157550	0.981304	0.41561	D	-1.075	0.01037	N	-2.16	0.86549	D	1.48	0.00756	N	0.473	0.52208	-0.2427	0.76556	T	0.476	0.79914	T	10	0.3584823	0.52539	T	0.071851	0.71379	D	0.374	0.69273	0.652	0.78963	0.901295844035	0.90031	0.7812033256607556	0.78071	0.736792843513	0.63020	0.614679574966	0.54977	T	0.188	0.54111	T	-0.160911	0.26620	T	-0.293067	0.45452	T	0.406285375356674	0.29179	T	0.676832	0.50694	T	0.08187904	0.18835	0.11455968	0.27653	0.08187904	0.18834	0.11455968	0.27653	-3.551	0.22587	T	.	.	0.107	0.19919	B	.;.;.	.;.;.	3.685363	0.52475	23.2	0.9396941250508356	0.24043	0.93126	0.57395	D	AEFDBCIJ	0.177242	0.30448	N	0.25597989315576	0.53935	3.560501	0.360294357138306	0.59129	4.088374	0.999767079163292	0.42728	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.61	5.61	0.85347	3.945000	0.56346	9.320000	0.80036	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.9275:0.0:0.0725:0.0	10.45	0.43702	700	0.57880	Zinc finger, C3HC4 RING-type|Zinc finger, RING-type|Zinc finger, RING-type;.;Zinc finger, C3HC4 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	.	.	.	.	.	.	.	.	0.02632	2621.33	34	chr3	12574864	.	A	G	2621.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.951;DP=875;ExcessHet=0;FS=1.736;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=0.929;SOR=0.551	GT:AD:DP:GQ:PL	0/1:101,109:210:99:2635,0,2671	18	0	1	0
chr3	13339919	13339919	C	T	exonic	NUP210	.	nonsynonymous SNV	NUP210:NM_024923:exon25:c.G3406A:p.G1136S	.	427	1087	7	1	0	9	0.00412277	.	.	.	720187	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.022	.	0.0072	0.00239617	0.0058	0.0016	0.0025	0	0.0113	0.0082	0.0121	0.0016	0.0058279	901	154602	rs114096350	0.0076	0.0076	0.0076	0.0075	0.0084	0.0074	0.0074	0.0083	0.0082	0.0014	0.0049	0.0022	0	0.0146	0.0019	0.0084	0.0064	0.0021	0.0060	0.0060	0.0061	0.0058	0.0081	0.0056	0.0055	0.0076	0.0073	0.0017	0	0.0053	0.0035	0.0002	0.0166	0	0.0081	0.0047	0.0014	0.175	0.22400	T	0.256	0.23298	T	0.172	0.28767	B	0.059	0.26602	B	0.004769	0.33407	N	0.247074	0.969035	0.38700	D	1.1	0.28011	L	1.04	0.40218	T	0.32	0.03955	N	0.36	0.40164	-1.0911	0.05351	T	0.046	0.19559	T	10	0.008646876	0.00196	T	.	.	.	0.022	0.04323	.	.	0.368743488249	0.36480	0.3656043433622361	0.36474	0.183203080201	0.20607	0.299419939518	0.10314	T	0.022369	0.17257	T	-0.554441	0.00274	T	-0.561943	0.16195	T	0.00712861587904812	0.00081	T	0.70443	0.31478	T	0.022155683	0.00859	0.040996384	0.04560	0.022155683	0.00859	0.040996384	0.04559	-4.87	0.35396	T	.	.	0.077	0.06525	B	.	.	0.768721	0.11385	7.999	0.93128085776179514	0.22767	0.72081	0.35295	D	AEFBCI	0.152902	0.27767	N	-0.634244164029589	0.17922	0.9263802	-0.580901606414848	0.19991	1.07509	0.967538436368108	0.28984	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.564101	0.26826	0	.	.	5.19	3.4	0.38031	2.302000	0.43298	0.544000	0.19360	-0.171000	0.11205	0.846000	0.30379	0.083000	0.22416	0.008000	0.08271	0.0:0.7773:0.0:0.2227	9.722	0.39474	814	0.42100	Bacterial Ig-like, group 2|Bacterial Ig-like, group 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	0.001008	0.000000	0.001359	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	2007.33	34	chr3	13339919	.	C	T	2007.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2;DP=806;ExcessHet=0;FS=9.085;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.95;ReadPosRankSum=-0.682;SOR=1.071	GT:AD:DP:GQ:PL	0/1:89,79:168:99:2021,0,2105	18	0	1	0
chr3	14682769	14682769	C	A	exonic	C3orf20	.	nonsynonymous SNV	C3orf20:NM_032137:exon3:c.C56A:p.P19H	.	431	1088	3	0	0	3	0.00137678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.300	0.0358113473402	.	.	4.956e-05	0	0	0	0	0	0	0.0004	3.88e-05	6	154602	rs755732675	2.189e-05	2.189e-05	1.089e-05	3.3e-05	0.0003	1.584e-05	1.356e-05	0.0002	0.0002	0	0	0	0	0	0.0002	0	3.312e-05	0.0003	6.57e-06	6.566e-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	0.000364	0.45194	D	0.000000	0.993974	0.81001	D	1.495	0.37439	L	1.89	0.23688	T	-4.76	0.80340	D	0.715	0.71765	-0.9955	0.31164	T	0.120	0.41886	T	10	0.6907275	0.71839	D	0.035811	0.56586	D	0.300	0.62068	0.445	0.50302	0.365120060079	0.36123	0.5068744728620146	0.50609	0.484872331888	0.47389	.	.	.	0.122996	0.44705	T	-0.198155	0.21071	T	-0.206256	0.54052	T	0.730884790420532	0.42256	D	0.710429	0.32156	T	0.6759004	0.76749	0.6185769	0.77788	0.6759004	0.76750	0.6185769	0.77789	-4.373	0.29188	T	.	.	0.743	0.74769	P	.	.	4.131016	0.61814	24.4	0.99681090048939103	0.79241	0.89798	0.50499	D	AEFBI	0.504365	0.53596	D	0.546821993692306	0.69888	5.421537	0.539736626376811	0.70687	5.541852	0.873107244122998	0.25459	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.28	5.28	0.74118	3.995000	0.56715	7.600000	0.61533	0.549000	0.26987	0.997000	0.40164	1.000000	0.68203	0.386000	0.26469	0.0:1.0:0.0:0.0	15.838	0.78592	872	0.31118	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1216.33	33	chr3	14682769	.	C	A	1216.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.123;DP=732;ExcessHet=0;FS=3.89;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.7;ReadPosRankSum=0.931;SOR=0.392	GT:AD:DP:GQ:PL	0/1:57,47:104:99:1230,0,1601	18	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	.	.	.	.	.	.	.	.	0.2895	3183.21	214	chr3	15003967	.	C	G	3183.21	.	AC=11;AF=0.289;AN=38;BaseQRankSum=-4.939;DP=3774;ExcessHet=8.9063;FS=188.233;InbreedingCoeff=-0.4074;MLEAC=11;MLEAF=0.289;MQ=60;MQRankSum=0;QD=1.4;ReadPosRankSum=1.07;SOR=13.139	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:153,45:198:99:.:.:196,0,3210:.	8	0	11	0
chr3	15074864	15074864	C	T	exonic	RBSN	.	nonsynonymous SNV	RBSN:NM_001302378:exon13:c.G1273A:p.G425R,RBSN:NM_022340:exon14:c.G1273A:p.G425R	.	426	1062	33	1	0	35	0.0162112	.	.	.	166150	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.197	0.195434023651	0.0036	0.00259585	0.0055	0.0007	0.0010	0	0.0070	0.0072	0.0067	0.0071	0.0052069	805	154602	rs144008665	0.0054	0.0054	0.0052	0.0056	0.0130	0.0053	0.0052	0.0106	0.0098	0.0005	0.0012	0.0003	7.557e-05	0.0074	0.0130	0.0057	0.0048	0.0076	0.0040	0.0040	0.0036	0.0045	0.0070	0.0038	0.0037	0.0055	0.0053	0.0008	0	0.0031	0.0003	0.0002	0.0077	0.0068	0.0060	0.0043	0.0070	0.028	0.46129	D	0.008	0.67890	D	0.979	0.59044	D	0.551	0.49270	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.62	0.76659	M	0.49	0.55775	T	-2.54	0.55025	D	0.736	0.79792	-0.7383	0.58540	T	0.169	0.50842	T	10	0.0075536966	0.00172	T	0.195434	0.86421	D	0.197	0.47942	0.322	0.30226	0.52891208781	0.52539	0.5606232059612715	0.55989	1.243952825	0.81618	0.664383888245	0.62036	T	0.090354	0.38568	T	-0.214009	0.18817	T	-0.0760405	0.65192	T	0.0545332893113079	0.06279	T	0.854215	0.54045	D	0.2833947	0.51372	0.25550038	0.51234	0.2833947	0.51372	0.25550038	0.51233	-4.542	0.31434	T	.	.	0.297	0.52945	B	.;.	.;.	4.122498	0.61634	24.4	0.99931917575123164	0.99439	0.98708	0.85845	D	AEFDBCI	0.896546	0.83774	D	0.584265364167002	0.72193	5.767207	0.609250153351065	0.75613	6.341222	0.999999996829047	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.8	5.8	0.92081	7.563000	0.81293	7.675000	0.64997	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.923000	0.45890	0.0:1.0:0.0:0.0	20.049	0.97617	489	0.76795	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.001359	0.011696	0.000000	0.008621	0.009146	0.011364	0.05263	3064.83	39	chr3	15074864	.	C	T	3064.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.39;DP=866;ExcessHet=0.119;FS=2.554;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.06;ReadPosRankSum=1.24;SOR=0.899	GT:AD:DP:GQ:PL	0/1:56,53:109:99:1501,0,1323	17	0	2	0
chr3	20140317	20140317	C	T	exonic	KAT2B	.	nonsynonymous SNV	KAT2B:NM_003884:exon13:c.C1957T:p.R653W	.	428	1062	31	1	0	33	0.015299	.	.	.	3206732	KAT2B-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.141	.	0.0036	0.00159744	0.0034	0.0007	0.0011	0	0.0008	0.0049	0.0132	0.0027	0.0033247	514	154602	rs116196143	0.0034	0.0034	0.0033	0.0034	0.0109	0.0033	0.0032	0.0087	0.0079	0.0005	0.0015	0.0182	5.038e-05	0.0008	0.0109	0.0033	0.0044	0.0038	0.0023	0.0023	0.0024	0.0022	0.0033	0.0021	0.0020	0.0027	0.0026	0.0005	0	0.0019	0.0179	0.0002	0.0003	0.0034	0.0031	0.0043	0.0033	0.085	0.32769	T	0.107	0.37730	T	0.996	0.68779	D	0.451	0.46123	P	0.003954	0.34294	N	0.381500	0.807127	0.34590	D	2.565	0.75005	M	1.91	0.23283	T	-5.62	0.86758	D	0.392	0.43320	-0.9454	0.41748	T	0.054	0.22997	T	10	0.012265682	0.00264	T	.	.	.	0.141	0.37795	.	.	0.287411543184	0.28351	0.7273030285561954	0.72674	0.916642512623	0.71263	0.370670676231	0.20928	T	0.840931	0.96290	D	-0.495169	0.00609	T	-0.48406	0.24015	T	0.0689269644871812	0.08499	T	0.987301	0.95681	D	0.37912828	0.59254	0.1573653	0.36800	0.37912828	0.59254	0.1573653	0.36799	-10.961	0.79444	D	.	.	0.238	0.47239	B	.	.	4.116573	0.61501	24.3	0.99855882320124989	0.93458	0.85128	0.44235	D	AEFI	0.418356	0.48602	N	0.37314403849247	0.59970	4.181216	0.338402836118541	0.57811	3.948447	0.982835378379117	0.30462	0.638212	0.43195	0	0.653731	0.59785	0	0.547309	0.15389	0	0.668105	0.65232	0	.	.	5.41	3.34	0.37357	2.554000	0.45507	1.830000	0.29108	0.599000	0.40250	0.981000	0.35396	0.865000	0.27529	0.740000	0.35438	0.3738:0.5337:0.0:0.0925	6.643	0.22113	676	0.60355	.	.	.	.	.	.	Likely benign	0	0	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	0.010101	0.004076	0.002924	0.000000	0.008621	0.015244	0.000000	0.02632	1045.33	35	chr3	20140317	.	C	T	1045.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.623;DP=716;ExcessHet=0;FS=2.089;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.08;ReadPosRankSum=1.25;SOR=0.845	GT:AD:DP:GQ:PL	0/1:25,40:65:99:1059,0,547	18	0	1	0
chr3	33174922	33174922	C	A	exonic	SUSD5	.	nonsynonymous SNV	SUSD5:NM_015551:exon4:c.G562T:p.G188W	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.569	0.163811248053	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.975	0.24501	L	0.39	0.57419	T	-8.0	0.96495	D	0.966	0.97643	-0.6012	0.64767	T	0.248	0.61704	T	10	0.86420625	0.85656	D	0.163811	0.84306	D	0.569	0.82460	0.519	0.62066	0.513503867364	0.50992	0.747838078414088	0.74729	0.330024752078	0.35094	0.819716572762	0.84985	D	0.269387	0.64158	T	0.309483	0.83706	D	0.206774	0.83493	D	0.99806934595108	0.93135	D	0.816718	0.47282	T	0.9073728	0.92051	0.83748525	0.90673	0.9073728	0.92052	0.83748525	0.90674	-11.44	0.82016	D	.	.	0.852	0.79889	P	.	.	5.386234	0.90253	31	0.99687816876882152	0.79708	0.98468	0.83094	D	AEFBI	0.908118	0.86301	D	0.68573921506326	0.78699	6.924291	0.724039056899851	0.84206	8.227349	0.999999999448096	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.597571	0.31856	0	0.714379	0.83352	0	.	.	5.72	5.72	0.89380	7.206000	0.77400	7.537000	0.60015	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:1.0:0.0:0.0	18.067	0.89320	716	0.55970	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	.	.	.	.	.	.	.	.	0.02632	1277.33	43	chr3	33174922	.	C	A	1277.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.92;DP=876;ExcessHet=0;FS=4.612;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.73;ReadPosRankSum=-1.302;SOR=1.175	GT:AD:DP:GQ:PL	0/1:72,47:119:99:1291,0,1923	18	0	1	0
chr3	33826615	33826615	T	G	exonic	PDCD6IP	.	nonsynonymous SNV	PDCD6IP:NM_001256192:exon6:c.T752G:p.L251W	.	459	1043	16	4	0	24	0.0113744	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0032	0.00738818	0.0063	0.0007	0.0026	0	0.0008	0.0048	0.0064	0.0232	0.0050452	780	154602	rs111356602	0.0047	0.0048	0.0043	0.0051	0.0185	0.0046	0.0046	0.0177	0.0174	0.0005	0.0029	0.0139	7.589e-05	0.0007	0.0049	0.0039	0.0050	0.0185	0.0039	0.0039	0.0039	0.0039	0.0226	0.0036	0.0035	0.0191	0.0179	0.0008	0.0033	0.0038	0.0159	0	0.0008	0	0.0047	0.0019	0.0226	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	3890.77	37	chr3	33826615	.	T	G	3890.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.259;DP=779;ExcessHet=0;FS=0;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=21.86;ReadPosRankSum=0.965;SOR=0.637	GT:AD:DP:GQ:PL	0/1:36,45:81:99:1182,0,914	17	1	1	0
chr3	39135169	39135169	C	T	exonic	TTC21A	.	nonsynonymous SNV	TTC21A:NM_001105513:exon21:c.C2816T:p.A939V,TTC21A:NM_001366899:exon22:c.C2963T:p.A988V,TTC21A:NM_001366900:exon22:c.C2939T:p.A980V,TTC21A:NM_145755:exon22:c.C2960T:p.A987V	.	426	1083	13	0	0	13	0.00596604	.	.	.	3185109	not_provided|TTC21A-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.037	.	0.0076	0.00219649	0.0080	0.0015	0.0026	0.0003	0.0054	0.0118	0.01	0.0056	0.0079818	1234	154602	rs79015599	0.0096	0.0096	0.0098	0.0093	0.0112	0.0094	0.0094	0.0111	0.0110	0.0016	0.0025	0.0019	0.0001	0.0069	0.0042	0.0112	0.0065	0.0055	0.0072	0.0072	0.0076	0.0068	0.0111	0.0069	0.0067	0.0104	0.0102	0.0025	0.0877	0.0022	0.0037	0	0.0078	0	0.0111	0.0052	0.0044	0.275	0.15770	T	0.292	0.20877	T	0.002	0.32207	B	0.003	0.18783	B	0.271176	0.15125	N	0.647297	1	0.08975	N	2.015	0.55033	M	1.15	0.38236	T	-1.59	0.38924	N	0.07	0.07811	-1.0688	0.09679	T	0.044	0.19111	T	10	0.0024488568	0.00037	T	.	.	.	0.037	0.09474	.	.	0.0806252709748	0.07271	0.17081410747736048	0.17001	0.129924708877	0.14651	0.272715091705	0.06498	T	0.007519	0.06921	T	-0.657348	0.00065	T	-0.70598	0.05504	T	0.00301996009467174	0.00032	T	0.614539	0.23442	T	0.043325085	0.06732	0.055911183	0.09893	0.043325085	0.06731	0.055911183	0.09892	-3.025	0.10453	T	.	.	0.077	0.06250	B	.;.	.;.	1.048117	0.14294	10.87	0.90938553121732468	0.20187	0.08861	0.14726	N	AEFGBHCI	0.058167	0.10892	N	-1.10514600761943	0.06551	0.3018753	-1.1190649187688	0.07336	0.3564484	0.999999829774834	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.602189	0.34648	0	0.75052	0.99595	0	.	.	4.66	0.839	0.18042	0.490000	0.22112	-2.178000	0.04099	-0.172000	0.11096	0.017000	0.19353	0.000000	0.08366	0.959000	0.51448	0.1225:0.5721:0.0:0.3054	6.262	0.20114	363	0.84772	Tetratricopeptide repeat-containing domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.007049	0.000000	0.009511	0.000000	0.000000	0.000000	0.015244	0.015152	0.02632	363.33	33	chr3	39135169	.	C	T	363.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.74;DP=678;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.12;ReadPosRankSum=0.762;SOR=0.546	GT:AD:DP:GQ:PL	0/1:35,16:51:99:377,0,826	18	0	1	0
chr3	42536241	42536241	G	T	exonic	VIPR1	.	nonsynonymous SNV	VIPR1:NM_001251883:exon10:c.G704T:p.R235L,VIPR1:NM_001251884:exon12:c.G1190T:p.R397L,VIPR1:NM_001251885:exon13:c.G1253T:p.R418L,VIPR1:NM_004624:exon13:c.G1334T:p.R445L,VIPR1:NM_001251882:exon14:c.G1211T:p.R404L	.	.	.	.	.	.	.	.	.	.	.	708855	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.154	.	.	0.00978435	0.0057	0	0	0.0699	0	0.0003	0.0039	0.0020	0.0025097	388	154602	rs3733055	0.0012	0.0012	0.0012	0.0012	0.0368	0.0011	0.0011	0.0352	0.0345	0	2.402e-05	0.0006	0.0368	0.0001	0	1.634e-05	0.0017	0.0019	0.0016	0.0016	0.0014	0.0018	0.0428	0.0014	0.0014	0.0382	0.0364	0	0	6.533e-05	0.0003	0.0428	0	0	0	0.0028	0.0025	0.005	0.63226	D	0.075	0.47828	T	0.929	0.51690	P	0.726	0.55126	P	0.000070	0.52346	D	0.126842	1	0.81001	D	2.57	0.75187	M	0.78	0.58613	T	-2.12	0.51157	N	0.388	0.44570	-0.4922	0.68930	T	0.157	0.48891	T	10	0.0056530237	0.00125	T	.	.	.	0.154	0.40340	.	.	0.706318304701	0.70376	0.5577707014246107	0.55704	0.400445151667	0.41042	0.488855749369	0.37280	T	0.497417	0.81930	T	-0.297851	0.08864	T	-0.168484	0.57581	T	0.0803748810786736	0.10035	T	0.911709	0.68653	D	0.26316005	0.49380	0.28110278	0.54089	0.26316005	0.49380	0.28110278	0.54088	-9.406	0.72802	D	.	.	0.126	0.33133	B	.;.;.;.	.;.;.;.	4.938551	0.81482	27.6	0.99785355841041268	0.87131	0.96866	0.71365	D	AEFDBHCI	0.816515	0.73822	D	0.598622818941784	0.73088	5.909419	0.556936539378222	0.71881	5.722919	0.999999318147431	0.74766	0.516011	0.20929	0	0.610034	0.51514	0	0.459711	0.06710	0	0.562822	0.20929	0	.	.	5.29	4.41	0.52588	4.773000	0.62025	6.554000	0.55920	0.670000	0.69193	1.000000	0.71638	1.000000	0.68203	0.530000	0.29707	0.0764:0.0:0.9236:0.0	13.318	0.59853	784	0.47045	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.000507	0.000000	0.001362	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	651.33	37	chr3	42536241	.	G	T	651.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.373;DP=654;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.7;ReadPosRankSum=-0.147;SOR=0.77	GT:AD:DP:GQ:PL	0/1:14,25:39:99:665,0,304	18	0	1	0
chr3	45828570	45828570	C	T	exonic	LZTFL1	.	nonsynonymous SNV	LZTFL1:NM_020347:exon8:c.G646A:p.A216T,LZTFL1:NM_001276379:exon9:c.G634A:p.A212T,LZTFL1:NM_001276378:exon10:c.G595A:p.A199T	Bardet-Biedl syndrome 17, Autosomal recessive	0	1511	11	0	0	11	0.00362677	.	.	.	1154479	not_provided|LZTFL1-related_disorder|Bardet-Biedl_syndrome_17	MedGen:C3661900|.|MONDO:MONDO:0014445,MedGen:C3714980,OMIM:615994,Orphanet:110	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.094	0.0186270554208	0.0002	0.00139776	0.0007	0.0002	0	0	0	5.997e-05	0	0.0048	0.000608	94	154602	rs146191659	0.0003	0.0003	0.0002	0.0005	0.0051	0.0003	0.0003	0.0047	0.0045	5.974e-05	2.237e-05	0	0	0	0.0014	2.158e-05	0.0003	0.0051	0.0002	0.0002	0.0002	0.0003	0.0054	0.0002	0.0002	0.0038	0.0032	0.0001	0	0	0	0	0	0	5.881e-05	0	0.0054	0.02	0.49613	D	0.384	0.34241	T	0.968	0.56581	D	0.586	0.50343	P	0.000000	0.84330	D	0.047201	1	0.81001	D	2.33	0.66821	M	1.75	0.26152	T	-1.66	0.39692	N	0.478	0.51940	-0.4093	0.71733	T	0.350	0.71431	T	10	0.009453058	0.00213	T	0.018627	0.40756	T	0.110	0.31079	.	.	0.678500513152	0.67576	0.15667804420353335	0.15588	1.14340301719	0.79003	0.431376218796	0.29396	T	0.00877	0.08027	T	-0.400943	0.02283	T	-0.348162	0.39416	T	0.0871957746759604	0.10881	T	0.79512	0.43772	T	0.14569652	0.33387	0.20995775	0.45362	0.15726864	0.35446	0.19225466	0.42728	-3.503	0.17510	T	.	.	0.08	0.14523	B	.;.;.	.;.;.	3.844395	0.55656	23.6	0.99902155141751248	0.97350	0.98185	0.80341	D	AEFBI	0.585816	0.58410	D	0.374955985064682	0.60066	4.191782	0.426571642553943	0.63227	4.552231	0.999999951994725	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.78	4.91	0.63897	5.344000	0.65751	4.857000	0.45432	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	0.0:0.9312:0.0:0.0688	14.813	0.69641	616	0.66398	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.002518	0.000000	0.000000	0.002924	0.000000	0.000000	0.006098	0.007576	0.02632	830.33	37	chr3	45828570	.	C	T	830.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.74;DP=716;ExcessHet=0;FS=2.08;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.37;ReadPosRankSum=1.18;SOR=1.024	GT:AD:DP:GQ:PL	0/1:43,30:73:99:844,0,983	18	0	1	0
chr3	46671004	46671004	G	A	exonic	ALS2CL	.	nonsynonymous SNV	ALS2CL:NM_001190707:exon26:c.C2842T:p.H948Y,ALS2CL:NM_147129:exon26:c.C2842T:p.H948Y	.	413	1100	9	0	0	9	0.00407424	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00426521386259	.	0.000599042	0.0006	0	0	0	0	7.493e-05	0	0.0038	0.0004722	73	154602	rs567139051	0.0003	0.0003	0.0002	0.0004	0.0040	0.0003	0.0003	0.0036	0.0035	0	4.472e-05	0	0	0	0.0014	3.597e-05	0.0004	0.0040	0.0002	0.0002	6.422e-05	0.0002	0.0035	0.0001	8.709e-05	0.0022	0.0018	0	0	0.0001	0	0	0	0.0034	4.41e-05	0	0.0035	0.025	0.47320	D	0.052	0.47581	T	0.476	0.36665	P	0.04	0.23831	B	0.493482	0.12031	N	0.730444	1	0.08975	N	0.345	0.11182	N	1.73	0.26445	T	-0.73	0.20576	N	0.039	0.03175	-1.0336	0.19300	T	0.026	0.10998	T	10	0.0025564432	0.00039	T	0.004265	0.10310	T	0.026	0.05648	.	.	0.107399877778	0.10242	0.1337909567434456	0.13303	0.149307884708	0.16836	0.298631966114	0.10198	T	0.016179	0.13427	T	-0.622905	0.00106	T	-0.668692	0.07693	T	0.0102476517232086	0.00139	T	0.630737	0.24588	T	0.0456181	0.07498	0.0457095	0.06211	0.0456181	0.07498	0.0457095	0.06210	-4.764	0.34168	T	.	.	0.071	0.04080	B	.;.	.;.	0.765663	0.11352	7.972	0.96355614039760484	0.29533	0.03623	0.08862	N	AEFDBI	0.105223	0.21030	N	-0.928615822516833	0.10176	0.4850889	-0.954336296930807	0.10823	0.5475924	0.920128776591723	0.26622	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.61	0.295	0.15001	-0.877000	0.04305	-0.313000	0.10024	-0.227000	0.07798	0.000000	0.06391	0.000000	0.08366	0.400000	0.26782	0.0:0.3738:0.246:0.3803	3.681	0.07844	319	0.87030	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	773.33	35	chr3	46671004	.	G	A	773.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.783;DP=709;ExcessHet=0;FS=3.135;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.04;ReadPosRankSum=0.585;SOR=0.379	GT:AD:DP:GQ:PL	0/1:43,34:77:99:787,0,1180	18	0	1	0
chr3	48423797	48423797	C	T	exonic	PLXNB1	.	nonsynonymous SNV	PLXNB1:NM_001130082:exon3:c.G815A:p.R272H,PLXNB1:NM_002673:exon3:c.G815A:p.R272H	.	426	1067	28	1	0	30	0.0138632	.	.	.	3192376	PLXNB1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.021	0.0542521768028	0.0052	0.00239617	0.0047	0.0008	0.0032	0	0.0027	0.0050	0.0079	0.0100	0.0046377	717	154602	rs61729213	0.0059	0.0059	0.0056	0.0061	0.0177	0.0058	0.0057	0.0149	0.0139	0.0008	0.0032	0.0081	0.0001	0.0025	0.0177	0.0059	0.0059	0.0115	0.0040	0.0040	0.0040	0.0039	0.0106	0.0037	0.0036	0.0083	0.0074	0.0007	0.0132	0.0051	0.0072	0	0.0037	0.0204	0.0051	0.0076	0.0106	0.057	0.37966	T	0.111	0.37173	T	0.016	0.36856	B	0.001	0.22546	B	0.194289	0.16764	N	0.584617	1	0.08975	N	0.975	0.24501	L	2.79	0.11189	T	-0.94	0.25118	N	0.134	0.13484	-0.9746	0.36213	T	0.011	0.03903	T	10	0.008404374	0.00191	T	0.054252	0.65786	D	0.021	0.04004	.	.	0.20808081866	0.20439	0.39216153544610566	0.39131	0.271221807874	0.29642	0.384781897068	0.22932	T	0.086828	0.37810	T	-0.61637	0.00116	T	-0.648754	0.09042	T	0.00186751405759976	0.00019	T	0.747125	0.36981	T	0.14732799	0.33685	0.06697054	0.13791	0.14732799	0.33685	0.06697054	0.13791	-3.316	0.14285	T	.	.	0.086	0.20586	B	.;.;.	.;.;.	2.502600	0.32310	19.00	0.97602923478947878	0.34859	0.28506	0.23573	N	AEFDBCI	0.184760	0.31209	N	-0.695584778456766	0.16147	0.8201088	-0.697985827993386	0.17010	0.9025726	0.999563213366153	0.40425	0.722319	0.85440	0	0.633656	0.55848	0	0.698795	0.65105	0	0.635551	0.53088	0	.	.	4.73	1.82	0.24209	1.091000	0.30526	-0.331000	0.09890	0.545000	0.25583	0.626000	0.27965	0.063000	0.22074	0.019000	0.11356	0.0:0.4917:0.1949:0.3134	5.463	0.15923	15	0.98792	Sema domain|Sema domain|Sema domain;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	1	0	1	0	0.014602	0.005051	0.020380	0.005848	0.000000	0.017241	0.009146	0.030303	0.02632	1961.33	33	chr3	48423797	.	C	T	1961.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.5;DP=747;ExcessHet=0;FS=0.703;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.06;ReadPosRankSum=0.846;SOR=0.835	GT:AD:DP:GQ:PL	0/1:50,65:115:99:1975,0,1206	18	0	1	0
chr3	49663187	49663187	C	T	exonic	BSN	.	nonsynonymous SNV	BSN:NM_003458:exon7:c.C11029T:p.H3677Y	.	430	1091	0	1	0	2	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.00950092052565	.	.	8.381e-06	0	0	0	0	1.53e-05	0	0	6.5e-06	1	154602	rs778988400	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.41637	D	0.101	0.38596	T	0.999	0.77913	D	0.915	0.65091	D	0.004183	0.34013	N	0.265926	0.999997	0.58761	D	1.485	0.37223	L	2.13	0.19588	T	0.08	0.06026	N	0.404	0.44474	-1.1001	0.04079	T	0.104	0.38267	T	10	0.30275017	0.47810	T	0.009501	0.24878	T	0.105	0.29889	0.23	0.15705	0.253981072376	0.25009	0.11894680064854962	0.11821	0.319986332736	0.34200	0.642325460911	0.58894	T	0.105371	0.41577	T	-0.100232	0.36386	T	-0.381753	0.35518	T	0.439456433057785	0.30409	T	0.671533	0.28021	T	0.11871096	0.27964	0.115826756	0.27960	0.11871096	0.27964	0.115826756	0.27960	-5.157	0.38502	T	.	.	0.149	0.32827	B	.	.	3.377027	0.46690	22.3	0.9382738129940229	0.23812	0.96684	0.70389	D	AEFDBI	0.462193	0.51164	N	0.504858119590089	0.67376	5.073461	0.505796495747461	0.68380	5.212024	0.999999999999766	0.74766	0.646311	0.45356	0	0.588015	0.36545	0	0.645312	0.48771	0	0.542086	0.14980	0	.	.	5.05	5.05	0.67566	3.583000	0.53673	5.742000	0.49579	0.549000	0.26987	0.995000	0.38783	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	18.010	0.89144	1	0.99630	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2334.33	37	chr3	49663187	.	C	T	2334.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.522;DP=818;ExcessHet=0;FS=0.534;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=-0.175;SOR=0.754	GT:AD:DP:GQ:PL	0/1:104,87:191:99:2348,0,2996	18	0	1	0
chr3	49684128	49684128	A	C	exonic	MST1	.	nonsynonymous SNV	MST1:NM_020998:exon18:c.T2078G:p.I693R	.	420	1079	23	0	0	23	0.0105456	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.905	0.209783175871	.	.	.	.	.	.	.	.	.	.	0.0005763	15	26028	rs1057319	4.791e-06	2.052e-05	5.448e-06	4.127e-06	6.297e-06	1.99e-06	1.28e-06	2.62e-06	1.68e-06	0	0	0	0	0	0	6.297e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.41915	D	0.099	0.38891	T	0.942	0.52977	P	0.705	0.54320	P	0.000294	0.46274	D	0.000000	1	0.81001	D	.	.	.	-3.17	0.93054	D	-3.05	0.62976	D	0.892	0.89131	-0.0852	0.80437	T	0.440	0.77833	T	10	0.88283724	0.87600	D	0.209783	0.87217	D	0.905	0.97398	.	.	0.940305963794	0.93968	0.9500131830112917	0.94984	0.784417504062	0.65439	0.657443225384	0.61044	T	.	.	.	0.47166	0.93396	D	0.439731	0.93313	D	0.929950773715973	0.59434	D	0.623938	0.24053	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.823	0.78393	P	.	.	4.368423	0.67236	25.1	0.98985773057694881	0.49841	0.98639	0.85009	D	AEBCI	0.925398	0.90489	D	0.580109755690605	0.71934	5.727079	0.625255245723132	0.76780	6.554294	0.999999997193309	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.59	5.59	0.84677	8.777000	0.91421	11.205000	0.89184	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	15.761	0.77846	1	0.99630	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	.	.	.	.	.	.	.	.	0.02632	55.33	91	chr3	49684128	.	A	C	55.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.646;DP=1202;ExcessHet=0;FS=16.899;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.94;MQRankSum=-13.34;QD=0.26;ReadPosRankSum=2.22;SOR=1.625	GT:AD:DP:GQ:PL	0/1:184,26:210:69:69,0,5442	18	0	1	0
chr3	49685734	49685734	T	G	splicing	MST1	NM_020998:exon11:c.1251-2A>C	.	.	.	396	1048	78	0	0	78	0.0358786	0.9999	0.908	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0033	0.0022	0.0048	0.0020	0.0040	0.0032	0.0022	0.0038	0.0011902	184	154602	rs9714011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0312953	0.47230	T	-0.28273	0.46524	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.318552	0.66070	24.9	0.82760893892845555	0.14361	0.84942	0.44038	D	AEFDBCI	.	.	.	0.550271141106862	0.70098	5.451985	0.329790380301468	0.57298	3.894969	0.999999223157914	0.74766	0.199473	0.04044	0	0.09434	0.02614	0	0.215285	0.04585	0	0.109499	0.03221	0	0.244363	0.32384	5.22	4.06	0.46572	2.893000	0.48331	7.791000	0.68894	-0.114000	0.14653	0.998000	0.41325	1.000000	0.68203	0.017000	0.10941	0.1492:0.0819:0.0:0.7689	5.690	0.17097	1	0.99630	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	162.83	60	chr3	49685734	.	T	G	162.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.085;DP=1616;ExcessHet=0.119;FS=21.115;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=58.55;MQRankSum=-15.36;QD=0.3;ReadPosRankSum=-1.936;SOR=3.021	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:262,20:282:51:0|1:49685734_T_G:51,0,10749:49685734	17	0	2	0
chr3	49795666	49795666	A	G	exonic	CDHR4	.	nonsynonymous SNV	CDHR4:NM_001007540:exon7:c.T809C:p.L270P	.	434	1086	1	1	0	3	0.00137931	.	.	.	3642037	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.346	0.421882722247	.	.	0.0002	0	0	0	0	0	0	0.0004	1.94e-05	3	154602	rs780163835	2.501e-05	2.394e-05	1.269e-05	3.767e-05	0.0004	1.816e-05	1.607e-05	0.0003	0.0002	0	0	0	0	0	0	4.634e-06	0	0.0004	1.314e-05	1.313e-05	1.285e-05	1.345e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.035	0.43708	D	0.005	0.72224	D	0.79	0.44599	P	0.365	0.43339	B	.	.	.	.	0.999998	0.08975	N	1.445	0.36358	L	-1.74	0.83413	D	-2.8	0.59226	D	0.421	0.46086	-0.6911	0.60857	T	0.344	0.70940	T	9	0.4213335	0.56884	T	0.421883	0.93809	D	0.346	0.66769	0.817	0.93127	0.690855691084	0.68820	0.722722451988872	0.72216	0.0840471645538	0.09481	0.405492007732	0.25833	T	0.089292	0.38341	T	-0.216197	0.18514	T	-0.222387	0.52507	T	0.208105482592791	0.20854	T	0.482752	0.14626	T	0.61669123	0.73586	0.62538254	0.78164	0.61669123	0.73587	0.62538254	0.78165	-10.874	0.78962	D	.	.	0.309	0.53671	B	.	.	2.416546	0.31068	18.63	0.98881069606648009	0.47823	0.03072	0.07984	N	AEFDBI	0.095857	0.19360	N	-0.283896862203813	0.29769	1.65388	-0.305199784580227	0.27931	1.553425	0.999983773503394	0.51787	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.28	2.78	0.31702	0.796000	0.26646	2.589000	0.33457	0.726000	0.85437	0.001000	0.13787	0.004000	0.18990	0.083000	0.17415	0.7594:0.1565:0.0841:0.0	6.388	0.20775	2	0.99499	Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	944.33	36	chr3	49795666	.	A	G	944.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.069;DP=732;ExcessHet=0;FS=5.878;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.95;ReadPosRankSum=-0.736;SOR=0.377	GT:AD:DP:GQ:PL	0/1:38,41:79:99:958,0,1083	18	0	1	0
chr3	50118454	50118454	-	GA	exonic	RBM5	.	nonframeshift insertion	RBM5:NM_005778:exon25:c.2446_2447insGA:p.X816delinsX	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0012	0.0006	0.0018	0	0.0009	0	0.0026	0.0001537	4	26028	rs762191784	0.0006	0.0015	0.0005	0.0007	0.0025	0.0005	0.0005	0.0023	0.0022	0.0015	0.0007	7.798e-05	0.0007	0.0002	0.0009	0.0004	0.0006	0.0025	0.0007	0.0008	0.0007	0.0008	0.0034	0.0006	0.0006	0.0022	0.0018	0.0012	0	0.0003	0	0.0004	0	0.0035	0.0005	0.0015	0.0034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1616.43	92	chr3	50118454	.	T	TGA	1616.43	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.103;DP=1323;ExcessHet=8.9063;FS=1.618;InbreedingCoeff=-0.401;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=2.19;ReadPosRankSum=0.889;SOR=0.558	GT:AD:DP:GQ:PL	0/1:39,28:70:99:721,0,1190	18	0	1	0
chr3	52485779	52485779	C	T	exonic	NISCH	.	nonsynonymous SNV	NISCH:NM_007184:exon15:c.C1655T:p.A552V	.	415	1076	29	2	0	33	0.015103	0.0001	0.048	.	708976	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.018	.	0.0016	0.00379393	0.0087	0.0006	0.0106	0	0	0.0053	0.004	0.0192	0.0026649	412	154602	rs145370808	0.0028	0.0029	0.0025	0.0032	0.0144	0.0028	0.0027	0.0137	0.0134	0.0003	0.0024	0.0016	0.0001	9.795e-05	0.0073	0.0023	0.0035	0.0144	0.0021	0.0021	0.0020	0.0021	0.0139	0.0019	0.0018	0.0112	0.0103	0.0003	0	0.0024	0.0020	0.0004	9.42e-05	0.0034	0.0027	0.0028	0.0139	0.434	0.09430	T	0.442	0.13252	T	0.0	0.02946	B	0.0	0.01387	B	0.760350	0.09628	N	0.885461	0.967293	0.25855	N	0.55	0.14455	N	3.24	0.06845	T	-0.31	0.12099	N	0.215	0.24010	-0.9191	0.45675	T	0.007	0.02439	T	10	0.0030722618	0.00051	T	.	.	.	0.018	0.03083	.	.	0.102598925029	0.09809	0.2263066253576028	0.22545	0.41680062442	0.42316	0.34879937768	0.17745	T	0.046095	0.27320	T	-0.647012	0.00075	T	-0.68984	0.06399	T	0.000702881056771046	0.00006	T	0.638636	0.25202	T	0.022411427	0.00902	0.032923006	0.02105	0.022411427	0.00902	0.032923006	0.02104	-4.194	0.26665	T	.	.	0.072	0.04599	B	.;.	.;.	1.995832	0.25356	16.73	0.1049769887297079	0.00134	0.35386	0.25290	N	AEFBI	0.043549	0.06897	N	-0.802405481257783	0.13249	0.651333	-0.683131908689011	0.17382	0.924025	0.826187499843318	0.24611	0.67177	0.52595	0	0.577304	0.33150	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.24	2.42	0.28720	0.985000	0.29177	1.384000	0.26059	0.599000	0.40250	0.807000	0.29812	1.000000	0.68203	0.307000	0.24666	0.0:0.7672:0.0:0.2328	6.156	0.19554	74	0.96871	.;.	.	.	.	.	.	Likely benign	0	0	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	0.007606	0.000000	0.005479	0.011696	0.000000	0.008621	0.012346	0.003788	0.02632	2030.33	33	chr3	52485779	.	C	T	2030.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.238;DP=809;ExcessHet=0;FS=2.075;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.91;ReadPosRankSum=0.253;SOR=0.53	GT:AD:DP:GQ:PL	0/1:67,79:146:99:2044,0,1707	18	0	1	0
chr3	52501750	52501750	C	T	exonic	STAB1	.	nonsynonymous SNV	STAB1:NM_015136:exon3:c.C328T:p.H110Y	.	420	1078	23	1	0	25	0.0114626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	.	0.0055	0.00778754	0.0146	0.0086	0.0043	0	0.0060	0.0061	0.0048	0.0302	0.0047283	731	154602	rs138055453	0.0066	0.0065	0.0061	0.0071	0.0249	0.0065	0.0064	0.0240	0.0236	0.0088	0.0025	0.0016	0.0006	0.0016	0.0064	0.0058	0.0066	0.0249	0.0060	0.0060	0.0058	0.0062	0.0228	0.0057	0.0055	0.0193	0.0180	0.0082	0	0.0039	0.0020	0.0014	0.0018	0.0034	0.0054	0.0024	0.0228	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.006599	0.31929	N	0.267885	0.985305	0.24723	N	-1.935	0.00224	N	-1.8	0.83893	D	2.09	0.00367	N	0.253	0.28616	-0.9010	0.47889	T	0.099	0.36932	T	10	0.006114602	0.00138	T	.	.	.	0.151	0.39764	.	.	0.435590266561	0.43178	0.7307644744657892	0.73021	0.232899817162	0.25826	0.479709684849	0.36017	T	0.049443	0.28307	T	-0.427664	0.01532	T	-0.368162	0.37104	T	0.00039861538395269	0.00003	T	0.0353298	0.00239	T	0.03496488	0.04025	0.045913834	0.06285	0.03496488	0.04025	0.045913834	0.06285	-6.591	0.50984	T	.	.	0.048	0.00092	B	.	.	1.051579	0.14328	10.90	0.427189866574537	0.03168	0.01428	0.04809	N	AEFBI	0.062788	0.12091	N	-1.04483334277099	0.07689	0.3580576	-0.780515850165557	0.14973	0.7851391	0.999770935207612	0.42865	0.67177	0.52595	0	0.547309	0.14657	0	0.578056	0.29568	0	0.711	0.71501	0	.	.	4.72	4.72	0.59248	0.929000	0.28445	2.326000	0.32165	-0.108000	0.15293	0.763000	0.29277	1.000000	0.68203	0.083000	0.17415	0.0:0.1019:0.0:0.8981	7.260	0.25372	84	0.96491	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	0.008673	0.005155	0.006849	0.005952	0.000000	0.000000	0.003125	0.015267	0.02632	1042.33	36	chr3	52501750	.	C	T	1042.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.154;DP=757;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.09;ReadPosRankSum=-0.356;SOR=0.693	GT:AD:DP:GQ:PL	0/1:47,47:94:99:1056,0,1197	18	0	1	0
chr3	52512856	52512856	G	A	exonic	STAB1	.	nonsynonymous SNV	STAB1:NM_015136:exon29:c.G3056A:p.R1019H	.	365	1134	21	2	0	25	0.0109027	.	.	.	698236	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.131	.	0.0039	0.00778754	0.0070	0.0010	0.0019	0.0002	0.0015	0.0050	0.0023	0.0275	0.0063453	981	154602	rs150311081	0.0063	0.0063	0.0057	0.0069	0.0246	0.0062	0.0061	0.0237	0.0234	0.0007	0.0020	0.0015	0.0004	0.0014	0.0047	0.0058	0.0058	0.0246	0.0039	0.0040	0.0038	0.0041	0.0235	0.0037	0.0036	0.0200	0.0187	0.0010	0	0.0031	0.0020	0.0012	0.0018	0.0034	0.0053	0.0019	0.0235	0.047	0.40319	D	0.011	0.64786	D	0.0	0.02946	B	0.002	0.06944	B	0.780586	0.06652	N	1.092920	1	0.08975	N	0.6	0.15550	N	-2.87	0.91478	D	-0.53	0.16393	N	0.172	0.18376	-0.5686	0.66071	T	0.434	0.77465	T	10	0.0047327876	0.00100	T	.	.	.	0.131	0.35738	.	.	0.481543764896	0.47786	0.653500378001125	0.65286	0.249637812395	0.27546	0.22370660305	0.01534	T	0.210043	0.57042	T	-0.442554	0.01249	T	-0.38955	0.34605	T	0.00556040071942966	0.00061	T	0.278772	0.04827	T	0.032839213	0.03386	0.03432039	0.02478	0.032839213	0.03385	0.03432039	0.02478	-4.847	0.35134	T	.	.	0.070	0.03336	B	.	.	1.875320	0.23824	16.16	0.9715612980354309	0.32607	0.10570	0.16040	N	AEFDBHCI	0.151095	0.27551	N	-1.0358706963245	0.07867	0.3669483	-1.01246301995592	0.09510	0.4735894	0.999975545097058	0.50053	0.67177	0.52595	0	0.578056	0.33634	0	0.578056	0.29568	0	0.711	0.71501	0	.	.	5.84	1.8	0.24069	0.386000	0.20429	2.080000	0.30490	-0.119000	0.14319	0.000000	0.06391	0.032000	0.21310	0.036000	0.13842	0.1541:0.2764:0.5694:0.0	6.607	0.21924	83	0.96533	FAS1 domain|FAS1 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	0.005539	0.005051	0.001362	0.002924	0.000000	0.000000	0.003049	0.018939	0.02632	710.33	39	chr3	52512856	.	G	A	710.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.28;DP=723;ExcessHet=0;FS=1.177;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.52;ReadPosRankSum=0.049;SOR=0.783	GT:AD:DP:GQ:PL	0/1:19,24:43:99:724,0,468	18	0	1	0
chr3	52520095	52520095	G	A	exonic	STAB1	.	nonsynonymous SNV	STAB1:NM_015136:exon51:c.G5387A:p.R1796Q	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.378	0.262867192635	.	.	1.666e-05	0	0	0	0	3.043e-05	0	0	1.29e-05	2	154602	rs750335748	4.732e-05	4.788e-05	3.818e-05	5.658e-05	5.767e-05	3.803e-05	3.485e-05	4.621e-05	4.205e-05	2.99e-05	2.238e-05	0	2.525e-05	0	0	5.767e-05	1.66e-05	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.008	0.67890	D	0.897	0.49385	P	0.435	0.45529	B	0.001067	0.40389	N	0.202030	0.70541	0.33464	D	1.175	0.29870	L	-2.67	0.90332	D	-1.82	0.42763	N	0.456	0.49328	0.021	0.82680	D	0.515	0.81826	D	10	0.71605337	0.73353	D	0.262867	0.89577	D	0.378	0.69612	0.799	0.91874	0.783185248428	0.78118	0.7400512194347415	0.73950	0.595573208933	0.54826	0.375516802073	0.21620	T	0.311036	0.68295	T	-0.0495985	0.44509	T	-0.226156	0.52142	T	0.620683372020721	0.37234	D	0.911209	0.68535	D	0.19219568	0.40879	0.12362286	0.29807	0.19219568	0.40879	0.12362286	0.29806	-6.434	0.49775	T	.	.	0.099	0.16713	B	.	.	3.509089	0.49129	22.7	0.99841034773172521	0.92143	0.47475	0.27991	N	AEFGBI	0.214776	0.34021	N	-0.115314444447907	0.36724	2.126718	-0.0998304912323296	0.35399	2.047461	0.999860339608384	0.44398	0.67177	0.52595	0	0.547309	0.14657	0	0.576033	0.28219	0	0.711	0.71501	0	.	.	5.8	3.02	0.33970	3.561000	0.53515	3.927000	0.40510	-0.135000	0.12811	1.000000	0.71638	1.000000	0.68203	0.761000	0.36181	0.267:0.0:0.5382:0.1948	3.215	0.06297	83	0.96533	FAS1 domain|FAS1 domain|FAS1 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3005.33	37	chr3	52520095	.	G	A	3005.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.67;DP=875;ExcessHet=0;FS=3.943;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.38;ReadPosRankSum=0.494;SOR=0.983	GT:AD:DP:GQ:PL	0/1:96,113:209:99:3019,0,2161	18	0	1	0
chr3	52814021	52814021	C	T	exonic	ITIH4	.	nonsynonymous SNV	ITIH4:NM_001166449:exon21:c.G2587A:p.G863S,ITIH4:NM_002218:exon23:c.G2677A:p.G893S	.	413	1090	18	1	0	20	0.00909091	.	.	.	698242	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.021	.	0.0040	0.00539137	0.0061	0.0011	0.0018	0	0.0026	0.0052	0.0023	0.0205	0.005595	865	154602	rs151083454	0.0059	0.0059	0.0055	0.0063	0.0177	0.0058	0.0058	0.0170	0.0167	0.0007	0.0021	0.0016	2.519e-05	0.0023	0.0049	0.0058	0.0054	0.0177	0.0039	0.0039	0.0038	0.0041	0.0153	0.0037	0.0036	0.0125	0.0115	0.0011	0	0.0037	0.0020	0.0002	0.0026	0.0068	0.0055	0.0033	0.0153	1.0	0.04832	T	0.795	0.06128	T	0.0	0.02946	B	0.002	0.06944	B	0.114756	0.02672	N	1.820270	1	0.08975	N	-1.725	0.00339	N	2.89	0.10196	T	1.1	0.01229	N	0.057	0.09631	-0.9695	0.37304	T	0.013	0.05129	T	10	0.0028267205	0.00045	T	.	.	.	0.022	0.04323	.	.	0.323886383625	0.31992	0.16089126465551357	0.16010	0.271104478552	0.29633	0.254898905754	0.04302	T	0.034529	0.23358	T	-0.65851	0.00064	T	-0.7044	0.05588	T	0.000266800669837077	0.00002	T	0.572043	0.20971	T	0.030960612	0.02851	0.041129094	0.04604	0.030960612	0.02851	0.041129094	0.04604	-3.085	0.11644	T	0.04118628777188473	0.00389	0.064	0.01715	B	.;.;.	.;.;.	-0.272951	0.02738	0.364	0.43481433377480122	0.03277	0.00236	0.01316	N	AEFDBI	0.115502	0.22707	N	-1.08195259201831	0.06976	0.3226915	-1.12549250914013	0.07216	0.3501602	0.956762914664364	0.28265	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.25	-0.979	0.09751	-0.239000	0.08983	0.308000	0.17052	-0.130000	0.13190	0.001000	0.13787	0.009000	0.19889	0.005000	0.06747	0.0:0.3751:0.1916:0.4333	5.011	0.13653	56	0.97520	Inter-alpha-trypsin inhibitor heavy chain, C-terminal;Inter-alpha-trypsin inhibitor heavy chain, 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	0.005539	0.005051	0.002725	0.000000	0.000000	0.000000	0.003049	0.015152	0.02632	1553.33	33	chr3	52814021	.	C	T	1553.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.76;DP=734;ExcessHet=0;FS=2.473;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.75;ReadPosRankSum=0.219;SOR=0.965	GT:AD:DP:GQ:PL	0/1:61,52:113:99:1567,0,1469	18	0	1	0
chr3	58293715	58293715	G	A	exonic	ABHD6	.	nonsynonymous SNV	ABHD6:NM_020676:exon9:c.G964A:p.D322N,ABHD6:NM_001320126:exon10:c.G964A:p.D322N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.340	0.0317814510094	0.0002	.	4.949e-05	0	0	0	0	9.007e-05	0	0	5.17e-05	8	154602	rs144907290	0.0003	0.0003	0.0003	0.0002	0.0003	0.0002	0.0002	0.0003	0.0003	2.987e-05	0	0	0	0	0	0.0003	0.0005	2.319e-05	8.542e-05	8.537e-05	8.991e-05	8.07e-05	0.0002	4.957e-05	3.962e-05	9.047e-05	7.012e-05	4.826e-05	0	0	0	0	0	0	0.0002	0	0	0.161	0.23631	T	0.075	0.42794	T	0.338	0.33405	B	0.016	0.17743	B	0.000002	0.62929	D	0.136202	0.999999	0.58761	D	1.815	0.47718	L	-1.17	0.78199	T	-1.75	0.41428	N	0.275	0.31140	-0.4149	0.71554	T	0.375	0.73347	T	10	0.3459286	0.51557	T	0.031781	0.53776	D	0.340	0.66202	.	.	0.880541316822	0.87936	0.23042614769109465	0.22957	0.225206234634	0.25062	0.471815437078	0.34930	T	0.163769	0.50895	T	-0.224999	0.17316	T	-0.324303	0.42100	T	0.165951265000428	0.18300	T	0.874113	0.58433	D	0.12732883	0.29799	0.13954523	0.33292	0.12732883	0.29798	0.13954523	0.33291	-4.131	0.25745	T	.	.	0.101	0.18580	B	.;.	.;.	3.885520	0.56503	23.7	0.99787159253464153	0.87308	0.98848	0.87654	D	AEFBI	0.923108	0.89909	D	0.309187408498464	0.56618	3.826905	0.445405998703102	0.64422	4.697063	0.999999992091787	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.84	5.84	0.93373	7.601000	0.82027	9.886000	0.82236	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.801000	0.37776	0.0:0.0:1.0:0.0	18.733	0.91708	452	0.79239	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	919.33	36	chr3	58293715	.	G	A	919.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.549;DP=715;ExcessHet=0;FS=1.783;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.57;ReadPosRankSum=0.248;SOR=0.467	GT:AD:DP:GQ:PL	0/1:48,39:87:99:933,0,1161	18	0	1	0
chr3	75730451	75730451	T	G	exonic	ZNF717	.	stoploss	ZNF717:NM_001324027:exon7:c.A2396C:p.X799S	.	432	314	768	8	0	784	0.555241	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs75952318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	47576.4	207	chr3	75730451	.	T	G	47576.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-2.127;DP=2663;ExcessHet=48.2876;FS=6.146;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=54.47;MQRankSum=-6.987;QD=18.24;ReadPosRankSum=0.373;SOR=0.4	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:68,28:96:99:0|1:75730450_C_T:971,0,2771:75730450	0	0	19	0
chr3	75736884	75736884	-	A	exonic	ZNF717	.	stoploss	ZNF717:NM_001128223:exon5:c.2738dupT:p.*915delinsLNTQPTPLWLLLQISPCSV*,ZNF717:NM_001290208:exon5:c.2738dupT:p.*915delinsLNTQPTPLWLLLQISPCSV*,ZNF717:NM_001290209:exon5:c.2588dupT:p.*865delinsLNTQPTPLWLLLQISPCSV*	.	408	790	324	0	0	324	0.170168	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0673505	1753	26028	rs149076283	2.008e-05	1.984e-05	1.697e-05	2.328e-05	2.801e-05	1.393e-05	1.199e-05	1.594e-05	1.347e-05	0	0	0	2.801e-05	0	0	2.322e-05	1.729e-05	1.281e-05	1.313e-05	1.312e-05	2.569e-05	0	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4211	10260.0	245	chr3	75736884	.	G	GA	10260.0	.	AC=16;AF=0.421;AN=38;BaseQRankSum=0.122;DP=2735;ExcessHet=25.4433;FS=3.097;InbreedingCoeff=-0.7273;MLEAC=16;MLEAF=0.421;MQ=56.86;MQRankSum=-7.226;QD=4.72;ReadPosRankSum=0.758;SOR=0.492	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:97,33:130:99:0|1:75736884_G_GA:1073,0,3966:75736884	3	0	16	0
chr3	75736891	75736891	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C2732T:p.S911F,ZNF717:NM_001290208:exon5:c.C2732T:p.S911F,ZNF717:NM_001290209:exon5:c.C2582T:p.S861F	.	413	564	544	0	1	545	0.325359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.00165921998894	.	.	.	.	.	.	.	.	.	.	0.0107192	279	26028	rs77747132	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.42783	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.22	0.07024	T	-1.16	0.29727	N	0.094	0.07398	-0.9320	0.43844	T	0.010	0.03856	T	9	0.06138295	0.07688	T	0.001659	0.02728	T	0.061	0.17616	.	.	0.0138822411134	0.00435	0.004917126878572224	0.00463	.	.	0.422835052013	0.28227	T	.	.	.	-0.173524	0.24704	T	-0.487032	0.23703	T	0.330072145045039	0.26228	T	0.353565	0.07967	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	0.36732	B	.	.	1.343956	0.17510	13.20	0.99194171637765427	0.55083	0.00118	0.00744	N	AEFDBCI	0.022343	0.01105	N	-1.23987897260233	0.04434	0.2001198	-1.31939943106607	0.04180	0.1966005	0.999947639461096	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.54	-0.734	0.10579	-0.650000	0.05477	.	.	0.542000	0.25261	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.3382:0.0:0.6618:0.0	5.509	0.16158	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4737	27506.3	251	chr3	75736891	.	G	A	27506.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=0.556;DP=2799;ExcessHet=38.2876;FS=3.537;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=56.93;MQRankSum=-8.927;QD=10.38;ReadPosRankSum=0.96;SOR=0.485	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:103,33:136:99:0|1:75736884_G_GA:1055,0,4185:75736884	1	0	18	0
chr3	75736920	75736920	C	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2703T:p.E901D,ZNF717:NM_001290208:exon5:c.G2703T:p.E901D,ZNF717:NM_001290209:exon5:c.G2553T:p.E851D	.	404	577	541	0	0	541	0.319174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.00110452594305	.	.	.	.	.	.	.	.	.	.	0.071231	1854	26028	rs111230396	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	0.14497	T	0.062	0.45318	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.23	0.06931	T	-1.02	0.26843	N	0.085	0.06190	-0.9483	0.41263	T	0.010	0.03627	T	9	0.058318764	0.06838	T	0.001105	0.01312	T	0.103	0.29403	.	.	0.0138822411134	0.00435	0.0015786287646668746	0.00145	.	.	0.445909142494	0.31386	T	.	.	.	-0.17615	0.24310	T	-0.490804	0.23306	T	0.0638085464059829	0.07754	T	0.121888	0.00944	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.23500	B	.	.	0.610910	0.09792	6.559	0.89825184067637265	0.19134	0.00196	0.01131	N	AEFDBCI	0.022523	0.01136	N	-1.22540343885655	0.04634	0.2095599	-1.32633955667091	0.04093	0.1923357	0.999959091878699	0.48110	0.562547	0.31514	0	0.653731	0.59785	0	0.634913	0.45138	1	0.264475	0.05362	3	.	.	0.741	-0.249	0.12368	1.331000	0.33398	.	.	0.482000	0.22156	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	0.0:0.6566:0.0:0.3434	3.115	0.05989	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4737	25918.3	252	chr3	75736920	.	C	A	25918.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=1.21;DP=2877;ExcessHet=38.2876;FS=2.773;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=55.14;MQRankSum=-8.054;QD=9.41;ReadPosRankSum=0.484;SOR=0.726	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:119,29:148:99:0|1:75736920_C_A:859,0,4902:75736920	1	0	18	0
chr3	75736928	75736928	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2695A:p.V899I,ZNF717:NM_001290208:exon5:c.G2695A:p.V899I,ZNF717:NM_001290209:exon5:c.G2545A:p.V849I	.	411	571	539	1	0	541	0.32145	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.00121036639884	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs74593105	0.0001	0.0002	0.0001	0.0001	0.0026	0.0001	0.0001	0.0016	0.0013	0.0008	8.267e-05	0	8.274e-05	0	0.0026	8.845e-05	0.0003	0.0004	0.0003	0.0003	0.0002	0.0003	0.0006	0.0002	0.0002	0.0004	0.0004	0.0006	0	0	0	0	0	0	0.0001	0	0.0006	0.38	0.11191	T	0.025	0.56192	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.32	0.06214	T	0.07	0.06138	N	0.026	0.00527	-0.9474	0.41414	T	0.008	0.02926	T	9	0.09491852	0.16914	T	0.00121	0.01583	T	0.112	0.31546	.	.	0.0138822411134	0.00435	7.206520044993825E-4	0.00066	.	.	0.389449685812	0.23592	T	.	.	.	-0.217344	0.18358	T	-0.549976	0.17329	T	0.104380803558879	0.12832	T	0.0709929	0.00518	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.08948	B	.	.	0.653467	0.10217	6.957	0.91771767316116259	0.21074	0.00105	0.00673	N	AEFDBCI	0.020476	0.00813	N	-1.22446334774296	0.04648	0.2101895	-1.31163951798627	0.04279	0.2014874	0.999941810098761	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.634913	0.45138	1	0.264475	0.05362	3	.	.	1.29	0.364	0.15359	-0.265000	0.08671	.	.	0.482000	0.22156	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7401:0.0:0.2599	3.729	0.08012	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4737	25991.3	253	chr3	75736928	.	C	T	25991.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=2.3;DP=2931;ExcessHet=38.2876;FS=1.988;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=54.62;MQRankSum=-7.88;QD=9.33;ReadPosRankSum=-0.059;SOR=0.707	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:123,29:152:99:0|1:75736920_C_A:847,0,5035:75736920	1	0	18	0
chr3	75736981	75736981	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2642G:p.Q881R,ZNF717:NM_001290208:exon5:c.A2642G:p.Q881R,ZNF717:NM_001290209:exon5:c.A2492G:p.Q831R	.	394	765	361	2	0	365	0.192612	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.000733824032747	.	.	.	.	.	.	.	.	.	.	0.0486399	1266	26028	rs75085872	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.534	0.06935	T	0.328	0.18675	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	5.46	0.00959	T	-0.86	0.23372	N	0.037	0.01135	-0.9235	0.45070	T	0.002	0.00526	T	9	0.048223555	0.04243	T	7.34E-4	0.00491	T	0.100	0.28662	.	.	0.0138822411134	0.00435	5.567766943860148E-4	0.00051	.	.	0.401793837547	0.25319	T	.	.	.	-0.241342	0.15177	T	-0.584447	0.14150	T	0.043195366142589	0.04273	T	0.0990901	0.00735	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	0.45665	B	.	.	0.535899	0.09045	5.828	0.71875029535553825	0.09778	0.00552	0.02527	N	AEFDBHCI	0.039909	0.05861	N	-1.49109708187503	0.01912	0.08392857	-1.53516138275096	0.02080	0.09511815	0.999952974710247	0.48110	0.562547	0.31514	0	0.653731	0.59785	0	0.0	0.00061	3	0.264475	0.05362	3	.	.	1.92	-0.78	0.10416	-4.136000	0.00326	.	.	-1.203000	0.01359	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.2929:0.1901:0.0:0.5171	1.651	0.02605	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4444	14961.5	225	chr3	75736981	.	T	C	14961.5	.	AC=16;AF=0.444;AN=36;BaseQRankSum=-1.026;DP=2892;ExcessHet=25.4433;FS=1.222;InbreedingCoeff=-0.7673;MLEAC=17;MLEAF=0.472;MQ=52.48;MQRankSum=-7.191;QD=6.18;ReadPosRankSum=-1.421;SOR=0.789	GT:AD:DP:GQ:PL	0/1:122,25:147:99:405,0,3624	2	0	16	1
chr3	75737012	75737012	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2611A:p.E871K,ZNF717:NM_001290208:exon5:c.G2611A:p.E871K,ZNF717:NM_001290209:exon5:c.G2461A:p.E821K	.	386	662	466	8	0	482	0.266888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.0010545400782	.	.	.	.	.	.	.	.	.	.	0.0444521	1157	26028	rs75096310	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.934	0.02228	T	0.289	0.21078	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.16	0.19166	T	-0.66	0.19085	N	0.072	0.04547	-0.9570	0.39735	T	0.015	0.05946	T	9	0.029257268	0.01053	T	0.001055	0.01191	T	0.117	0.32689	.	.	0.0138822411134	0.00435	0.0019455304358727955	0.00180	.	.	0.341237813234	0.16623	T	.	.	.	-0.238107	0.15590	T	-0.5798	0.14563	T	0.0632113878371354	0.07664	T	0.059894	0.00434	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.26200	B	.	.	1.575632	0.20165	14.62	0.84215655419281732	0.15163	0.00232	0.01297	N	AEFDBHCI	0.027833	0.02344	N	-1.41055986614139	0.02545	0.1125291	-1.43935631045541	0.02868	0.1327212	0.999943869570154	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.517114	0.09559	2	0.756233	0.99697	0	.	.	1.92	-0.00832	0.13329	-3.006000	0.00714	.	.	-1.281000	0.01268	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2577:0.4021:0.0:0.3403	2.041	0.03335	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4722	20724.0	217	chr3	75737012	.	C	T	20724.0	.	AC=17;AF=0.472;AN=36;BaseQRankSum=-0.958;DP=3072;ExcessHet=31.086;FS=0.559;InbreedingCoeff=-0.8551;MLEAC=18;MLEAF=0.5;MQ=53.49;MQRankSum=-5.15;QD=7.81;ReadPosRankSum=-0.189;SOR=0.705	GT:AD:DP:GQ:PL	0/1:121,30:151:99:605,0,3890	1	0	17	1
chr3	75737060	75737060	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2563C:p.S855P,ZNF717:NM_001290208:exon5:c.T2563C:p.S855P,ZNF717:NM_001290209:exon5:c.T2413C:p.S805P	.	379	596	534	13	0	560	0.319635	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.000628152010991	.	.	.	.	.	.	.	.	.	.	0.0548256	1427	26028	rs77715040	8.282e-06	8.895e-06	4.114e-06	1.25e-05	1.183e-05	4.42e-06	3.49e-06	5.34e-06	3.9e-06	0	0	0	0	0	0	9.948e-06	0	1.183e-05	1.314e-05	1.313e-05	1.284e-05	1.345e-05	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	0.013	0.53900	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.15	0.07820	T	-3.1	0.63554	D	0.116	0.10483	-1.0427	0.16503	T	0.033	0.14029	T	9	0.09637886	0.17284	T	6.28E-4	0.00319	T	0.160	0.41473	.	.	0.0138822411134	0.00435	0.009052444588593512	0.00868	.	.	0.566062688828	0.48122	T	.	.	.	-0.167764	0.25573	T	-0.478758	0.24578	T	0.297621607780457	0.24905	T	0.79872	0.44372	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.550	0.66781	A	.	.	2.370076	0.30412	18.43	0.98191942080542327	0.39045	0.00784	0.03216	N	AEFDBHCI	0.085768	0.17389	N	-0.771083796564405	0.14068	0.6978022	-0.955324100233036	0.10800	0.5462925	0.999957637849619	0.48110	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.59	1.59	0.22622	-2.936000	0.00751	.	.	0.610000	0.48991	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	1.0:0.0:0.0:0.0	7.316	0.25675	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	30914.3	256	chr3	75737060	.	A	G	30914.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-0.825;DP=3492;ExcessHet=48.2876;FS=0.535;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=53.88;MQRankSum=-5.378;QD=9.11;ReadPosRankSum=0.644;SOR=0.759	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:123,38:161:99:.:.:967,0,4926:.	0	0	19	0
chr3	75737092	75737092	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2531A:p.C844Y,ZNF717:NM_001290208:exon5:c.G2531A:p.C844Y,ZNF717:NM_001290209:exon5:c.G2381A:p.C794Y	.	382	490	638	12	0	662	0.403167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.402	0.00342039862449	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs139633377	6.975e-07	1.369e-06	1.383e-06	0	9.107e-07	0	0	.	.	0	0	0	0	0	0	9.107e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.015	0.61642	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-1.94	0.84919	D	-7.52	0.95102	D	0.208	0.23125	-0.0500	0.81206	T	0.770	0.92171	D	9	0.30394778	0.47923	T	0.00342	0.07694	T	0.402	0.71558	.	.	0.578941962908	0.57563	0.02342305612139971	0.02294	.	.	0.721298933029	0.70236	T	.	.	.	0.128852	0.67249	D	-0.0526902	0.66838	D	0.914417432390081	0.57105	D	0.80432	0.45191	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.889	0.82003	P	.	.	2.732693	0.35776	19.99	0.91222742361264963	0.20479	0.19094	0.20525	N	AEFDBHCI	0.116885	0.22922	N	0.127215796981728	0.47735	2.995096	-0.201159305983142	0.31494	1.782947	0.999998666164745	0.74766	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.46	0.518	0.16228	4.030000	0.56971	.	.	0.487000	0.22268	0.993000	0.37899	0.000000	0.08366	0.025000	0.12405	0.0:0.7965:0.0:0.2035	5.69	0.17097	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	52412.4	280	chr3	75737092	.	C	T	52412.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-2.868;DP=3617;ExcessHet=48.2876;FS=2.51;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=55.44;MQRankSum=-8.725;QD=14.68;ReadPosRankSum=2.04;SOR=0.912	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:129,41:170:99:0|1:75737092_C_T:1333,0,5285:75737092	0	0	19	0
chr3	75737094	75737094	T	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2529T:p.R843S,ZNF717:NM_001290208:exon5:c.A2529T:p.R843S,ZNF717:NM_001290209:exon5:c.A2379T:p.R793S	.	386	488	636	12	0	660	0.403423	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.00139168871644	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs149660902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.487	0.08067	T	0.021	0.58089	D	.	.	.	.	.	.	.	.	.	.	1	0.29002	N	.	.	.	2.5	0.14408	T	0.12	0.05604	N	0.171	0.18239	-0.9656	0.38092	T	0.015	0.05849	T	9	0.041348934	0.02782	T	0.001392	0.02037	T	0.187	0.46274	.	.	0.0138822411134	0.00435	0.003970010212323737	0.00371	.	.	0.350422680378	0.17984	T	.	.	.	-0.230087	0.16639	T	-0.568281	0.15607	T	0.0363333960522166	0.03039	T	0.50295	0.15803	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.364	0.57473	A	.	.	0.927565	0.13027	9.531	0.78772853777929608	0.12446	0.00288	0.01547	N	AEFDBHCI	0.032938	0.03815	N	-1.56864543804847	0.01428	0.06230873	-1.65490256639135	0.01351	0.06097677	0.999968767302643	0.48965	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.46	-1.65	0.07849	-1.617000	0.02154	.	.	-1.209000	0.01353	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2432:0.1819:0.2457:0.3291	0.098	0.00042	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	52218.4	279	chr3	75737094	.	T	A	52218.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-2.675;DP=3606;ExcessHet=48.2876;FS=2.513;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=55.56;MQRankSum=-8.714;QD=14.56;ReadPosRankSum=1.95;SOR=0.923	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:129,39:168:99:0|1:75737092_C_T:1249,0,5299:75737092	0	0	19	0
chr3	75737105	75737105	T	A	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.A2518T:p.K840X,ZNF717:NM_001290208:exon5:c.A2518T:p.K840X,ZNF717:NM_001290209:exon5:c.A2368T:p.K790X	.	386	483	643	10	0	663	0.406998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0502536	1308	26028	rs113251431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.032	0.00825	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.493707	0.94111	D	0.471	0.94033	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.648710	0.92795	33	0.9890268774789388	0.48217	0.46426	0.27757	N	AEFDBHCI	0.042646	0.06644	N	0.188175099212538	0.50632	3.251287	-0.154561253355241	0.33234	1.898897	0.999999961661622	0.74766	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.59	1.59	0.22622	3.121000	0.50131	.	.	0.539000	0.25131	1.000000	0.71638	0.000000	0.08366	0.011000	0.09372	0.0:0.0:0.0:1.0	7.316	0.25675	987	0.02648	Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	51218.4	275	chr3	75737105	.	T	A	51218.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-3.193;DP=3583;ExcessHet=48.2876;FS=3.337;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=55.97;MQRankSum=-9.931;QD=14.38;ReadPosRankSum=1.42;SOR=0.97	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:128,38:166:99:0|1:75737092_C_T:1210,0,5260:75737092	0	0	19	0
chr3	75737127	75737127	A	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2496G:p.H832Q,ZNF717:NM_001290208:exon5:c.T2496G:p.H832Q,ZNF717:NM_001290209:exon5:c.T2346G:p.H782Q	.	384	545	585	8	0	601	0.355411	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.462	0.0028455442474	.	.	.	.	.	.	.	.	.	.	0.064008	1666	26028	rs79811623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-2.18	0.86722	D	-5.94	0.89093	D	0.203	0.22486	0.069	0.83596	D	0.747	0.91362	D	9	0.25438643	0.42818	T	0.002846	0.05956	T	0.462	0.75889	.	.	0.358340041657	0.35441	0.0053718602075851244	0.00508	.	.	0.740122795105	0.72990	T	.	.	.	0.0996688	0.64257	D	-0.0946091	0.63811	T	0.721620917320251	0.41781	D	0.784422	0.42203	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.946	0.86443	P	.	.	1.863242	0.23667	16.11	0.75650377613460507	0.11157	0.04138	0.09621	N	AEFDBHCI	0.080253	0.16223	N	-0.306900910275906	0.28885	1.597038	-0.631394962146373	0.18688	0.9994579	0.99995045990878	0.48110	0.632932	0.41330	0	0.666794	0.63253	0	0.002978	0.00130	3	0.756233	0.99697	0	.	.	1.59	0.372	0.15405	0.061000	0.14242	.	.	0.575000	0.29119	0.037000	0.20830	0.000000	0.08366	0.001000	0.02609	0.8077:0.0:0.1923:0.0	4.797	0.12647	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	45019.4	258	chr3	75737127	.	A	C	45019.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.02;DP=3367;ExcessHet=48.2876;FS=6.221;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=56.5;MQRankSum=-10.9;QD=13.47;ReadPosRankSum=1.25;SOR=1.093	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:123,34:157:99:0|1:75737092_C_T:1057,0,5062:75737092	0	0	19	0
chr3	75737164	75737172	CTACATTCT	-	exonic	ZNF717	.	nonframeshift deletion	ZNF717:NM_001128223:exon5:c.2451_2459del:p.E818_R820del,ZNF717:NM_001290208:exon5:c.2451_2459del:p.E818_R820del,ZNF717:NM_001290209:exon5:c.2301_2309del:p.E768_R770del	.	392	660	463	7	0	477	0.265442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012256	319	26028	rs66703079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	28213.3	184	chr3	75737163	.	CCTACATTCT	C	28213.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-0.052;DP=2750;ExcessHet=48.2876;FS=12.118;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=56.71;MQRankSum=-10.76;QD=10.38;ReadPosRankSum=-0.785;SOR=1.489	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:115,23:138:99:0|1:75737092_C_T:620,0,4759:75737092	0	0	19	0
chr3	75737516	75737516	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2107G:p.M703V,ZNF717:NM_001290208:exon5:c.A2107G:p.M703V,ZNF717:NM_001290209:exon5:c.A1957G:p.M653V,ZNF717:NM_001324027:exon5:c.A2107G:p.M703V	.	325	1196	1	0	0	1	0.000417885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.000899127056802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.279e-06	4.789e-06	4.224e-06	4.336e-06	4.627e-06	1.54e-06	1.01e-06	1.36e-06	9.9e-07	0	0	0	0	0	0	4.627e-06	1.718e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.50676	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.35	0.05989	T	-0.18	0.09796	N	0.051	0.02272	-0.9812	0.34724	T	0.017	0.07187	T	9	0.08289203	0.13729	T	8.99E-4	0.00844	T	0.084	0.24469	.	.	0.0138822411134	0.00435	0.022592001733607987	0.02211	.	.	0.251361638308	0.03913	T	.	.	.	-0.190955	0.22116	T	-0.51207	0.21103	T	0.05938529379036	0.07071	T	0.0692931	0.00507	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.01986	B	.	.	0.776277	0.11463	8.068	0.50161841369890658	0.04336	0.01301	0.04519	N	AEFDBHCI	0.057376	0.10682	N	-0.877794072723842	0.11372	0.5484504	-1.01290737306039	0.09500	0.4730415	0.999950926036131	0.48110	0.460665	0.09802	0	0.601575	0.49859	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.27	1.27	0.20595	-0.669000	0.05363	.	.	-0.226000	0.07819	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.362:0.0:0.0:0.638	3.417	0.06951	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	.	.	.	.	.	.	.	.	0.02632	478.33	189	chr3	75737516	.	T	C	478.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.535;DP=3305;ExcessHet=0;FS=5.1;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=55.98;MQRankSum=-4.609;QD=3.13;ReadPosRankSum=-1.895;SOR=1.009	GT:AD:DP:GQ:PL	0/1:124,29:153:99:492,0,4854	18	0	1	0
chr3	75737519	75737519	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C2104T:p.P702S,ZNF717:NM_001290208:exon5:c.C2104T:p.P702S,ZNF717:NM_001290209:exon5:c.C1954T:p.P652S,ZNF717:NM_001324027:exon5:c.C2104T:p.P702S	.	378	414	722	8	0	738	0.471264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.231	0.0020371222204	.	.	.	.	.	.	.	.	.	.	0.0847549	2206	26028	rs80089603	0.0009	0.0009	0.0010	0.0008	0.0241	0.0009	0.0009	0.0227	0.0221	0.0241	0.0014	0.0065	0.0009	0	0.0016	6.293e-05	0.0031	0.0001	0.0071	0.0074	0.0072	0.0070	0.0235	0.0067	0.0066	0.0223	0.0218	0.0235	0	0.0024	0.0084	0.0025	0	0.0034	4.409e-05	0.0071	0.0006	0.014	0.53172	D	0.014	0.62352	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	3.28	0.06523	T	-2.65	0.56787	D	0.082	0.05799	-0.9616	0.38877	T	0.011	0.04274	T	9	0.0059270263	0.00133	T	0.002037	0.03721	T	0.231	0.53208	.	.	0.0297737177859	0.01360	0.030845822720570865	0.03033	.	.	0.227284103632	0.01773	T	.	.	.	-0.138909	0.30065	T	-0.437309	0.29111	T	0.612736403942108	0.36911	D	0.140186	0.01129	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.25166	B	.	.	2.134754	0.27180	17.37	0.9793642767632269	0.36999	0.50764	0.28739	D	AEFDBHCI	0.281183	0.39482	N	-0.656716686745216	0.17265	0.8869353	-0.759493038371137	0.15489	0.8148735	0.999998040796218	0.74766	0.460665	0.09802	0	0.601575	0.49859	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.27	0.281	0.14938	5.209000	0.65041	.	.	0.560000	0.28382	1.000000	0.71638	0.000000	0.08366	0.002000	0.04165	0.0:0.0:0.7085:0.2915	6.406	0.20867	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	72208.4	197	chr3	75737519	.	G	A	72208.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=0.695;DP=3883;ExcessHet=48.2876;FS=4.051;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=56.16;MQRankSum=-6.49;QD=19.68;ReadPosRankSum=0.126;SOR=0.729	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:103,53:156:99:.:.:1871,0,4054:.	0	0	19	0
chr3	75737590	75737590	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2033C:p.M678T,ZNF717:NM_001290208:exon5:c.T2033C:p.M678T,ZNF717:NM_001290209:exon5:c.T1883C:p.M628T,ZNF717:NM_001324027:exon5:c.T2033C:p.M678T	.	380	344	789	9	0	807	0.539799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.000918803670254	.	.	.	.	.	.	.	.	.	.	0.0043031	112	26028	rs79103664	2.155e-06	3.424e-06	1.417e-06	2.914e-06	1.862e-06	5.7e-07	1.6e-07	3.1e-07	1.2e-07	0	0	0	0	0	0	1.862e-06	1.736e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.577	0.06049	T	0.136	0.34009	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.17	0.07599	T	0.82	0.01813	N	0.035	0.01004	-0.9135	0.46415	T	0.010	0.03492	T	9	0.047419846	0.04058	T	9.19E-4	0.00889	T	0.064	0.18567	.	.	0.0138822411134	0.00435	0.020703910282481648	0.02023	.	.	0.269451141357	0.06069	T	.	.	.	-0.256687	0.13292	T	-0.606489	0.12271	T	0.0260274478999564	0.01409	T	0.0606939	0.00442	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.30634	B	.	.	-0.571595	0.01651	0.116	0.41969334367691202	0.03062	0.00342	0.01773	N	AEFDBHCI	0.055927	0.10297	N	-1.5270329997039	0.01674	0.07322606	-1.61933844482173	0.01542	0.06986147	0.999968620109732	0.48965	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.57	-2.35	0.06302	-4.932000	0.00197	.	.	-1.902000	0.00523	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.5391:0.0:0.0:0.4609	5.111	0.14145	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	80980.4	254	chr3	75737590	.	A	G	80980.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.318;DP=4255;ExcessHet=48.2876;FS=0;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=53.17;MQRankSum=-12.03;QD=19.35;ReadPosRankSum=0.753;SOR=0.74	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:112,70:182:99:0|1:75737590_A_G:2597,0,4471:75737590	0	0	19	0
chr3	75737608	75737608	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2015G:p.K672R,ZNF717:NM_001290208:exon5:c.A2015G:p.K672R,ZNF717:NM_001290209:exon5:c.A1865G:p.K622R,ZNF717:NM_001324027:exon5:c.A2015G:p.K672R	.	399	323	791	9	0	809	0.556014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.003971670348	.	.	.	.	.	.	.	.	.	.	0.0466805	1215	26028	rs75759940	4.311e-06	4.109e-06	2.835e-06	5.828e-06	5.588e-06	1.55e-06	1.02e-06	2.01e-06	1.32e-06	0	0	0	0	0	0	5.588e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.46513	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	3.16	0.07711	T	-0.9	0.24244	N	0.034	0.00942	-0.9500	0.40972	T	0.008	0.02926	T	9	0.049818516	0.04624	T	0.003972	0.09400	T	0.059	0.16972	.	.	0.0138822411134	0.00435	0.005655336952012324	0.00535	.	.	0.307848095894	0.11582	T	.	.	.	-0.255831	0.13391	T	-0.60526	0.12373	T	0.0589383841193725	0.07000	T	0.19898	0.02226	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.13268	B	.	.	1.223152	0.16170	12.37	0.86139736186920213	0.16339	0.00629	0.02767	N	AEDBHCI	0.051131	0.09005	N	-1.64554763938136	0.01054	0.04572823	-1.67922087383407	0.01232	0.05551315	0.99998526063166	0.51787	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.57	-3.14	0.04928	-0.248000	0.08872	.	.	-1.039000	0.01670	0.792000	0.29619	0.000000	0.08366	0.001000	0.02609	0.0:0.4304:0.3244:0.2451	4.750	0.12430	987	0.02648	Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	87211.4	273	chr3	75737608	.	T	C	87211.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-0.532;DP=4453;ExcessHet=48.2876;FS=0;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=52.93;MQRankSum=-13.33;QD=19.71;ReadPosRankSum=0.507;SOR=0.671	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:110,76:186:99:0|1:75737590_A_G:2860,0,4390:75737590	0	0	19	0
chr3	75737622	75737622	T	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2001T:p.R667S,ZNF717:NM_001290208:exon5:c.A2001T:p.R667S,ZNF717:NM_001290209:exon5:c.A1851T:p.R617S,ZNF717:NM_001324027:exon5:c.A2001T:p.R667S	.	390	339	783	10	0	803	0.542201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	0.00187641351265	.	.	.	.	.	.	.	.	.	.	0.0503688	1311	26028	rs76175438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.49613	D	0.042	0.50226	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	2.96	0.09542	T	-3.88	0.72710	D	0.189	0.20660	-1.0544	0.13198	T	0.045	0.19478	T	9	0.11718443	0.22126	T	0.001876	0.03272	T	0.148	0.39182	.	.	0.0138822411134	0.00435	0.02830632002622666	0.02780	.	.	0.34867143631	0.17727	T	.	.	.	-0.180088	0.23722	T	-0.496461	0.22715	T	0.343506299687112	0.26762	T	0.413359	0.10763	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.582	0.68127	P	.	.	2.295364	0.29365	18.10	0.84579906210778943	0.15375	0.01716	0.05441	N	AEFDBHCI	0.093535	0.18923	N	-0.671626443351997	0.16833	0.8611102	-0.960126716317775	0.10688	0.5399544	0.999967844770143	0.48965	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.71	0.405	0.15579	-1.876000	0.01725	.	.	0.551000	0.28136	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.2583:0.0:0.0:0.7417	5.213	0.14647	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	89860.4	289	chr3	75737622	.	T	A	89860.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-2.61;DP=4598;ExcessHet=48.2876;FS=0.515;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=53.36;MQRankSum=-13.02;QD=19.7;ReadPosRankSum=-0.634;SOR=0.643	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:116,78:194:99:0|1:75737590_A_G:2926,0,4636:75737590	0	0	19	0
chr3	75737651	75737651	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C1972T:p.R658C,ZNF717:NM_001290208:exon5:c.C1972T:p.R658C,ZNF717:NM_001290209:exon5:c.C1822T:p.R608C,ZNF717:NM_001324027:exon5:c.C1972T:p.R658C	.	400	343	772	7	0	786	0.533967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.00153184105349	.	.	.	.	.	.	.	.	.	.	0.0285462	743	26028	rs77826574	6.031e-05	7.327e-05	6.658e-05	5.386e-05	0.0004	4.978e-05	4.582e-05	9.298e-05	6.561e-05	3.182e-05	0.0002	0	5.661e-05	0	0.0004	5.584e-05	0.0001	7.603e-05	5.383e-05	7.906e-05	6.569e-05	4.138e-05	0.0002	2.611e-05	1.869e-05	1.982e-05	1.131e-05	5.043e-05	0	6.658e-05	0	0	0	0	5.922e-05	0	0.0002	0.067	0.35918	T	0.169	0.30534	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	5.42	0.00999	T	-3.07	0.63207	D	0.105	0.08925	-0.8711	0.50446	T	0.003	0.01026	T	9	0.085398704	0.14414	T	0.001532	0.02394	T	0.133	0.36157	.	.	0.0482279557977	0.04254	0.024591376914232316	0.02410	.	.	0.41199272871	0.26732	T	.	.	.	-0.203544	0.20296	T	-0.530154	0.19270	T	0.177544683043135	0.19078	T	0.0464954	0.00331	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238	0.47195	B	.	.	1.962068	0.24926	16.58	0.86866792728357911	0.16827	0.00357	0.01833	N	AEFDBHCI	0.053804	0.09728	N	-0.680381306712077	0.16582	0.8460908	-0.915126681668579	0.11737	0.5997874	0.999961843561367	0.48965	0.460665	0.09802	0	0.546412	0.12157	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.71	0.774	0.17665	-0.426000	0.07076	.	.	-0.244000	0.07312	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.185:0.0:0.5297:0.2853	2.500	0.04348	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	88261.4	293	chr3	75737651	.	G	A	88261.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.6;DP=4568;ExcessHet=48.2876;FS=0.521;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=54.19;MQRankSum=-11.6;QD=19.54;ReadPosRankSum=-0.826;SOR=0.662	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:123,77:200:99:0|1:75737590_A_G:2863,0,4933:75737590	0	0	19	0
chr3	75737676	75737676	A	T	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.T1947A:p.C649X,ZNF717:NM_001290208:exon5:c.T1947A:p.C649X,ZNF717:NM_001290209:exon5:c.T1797A:p.C599X,ZNF717:NM_001324027:exon5:c.T1947A:p.C649X	.	512	238	765	7	0	779	0.620717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0560934	1460	26028	rs79635065	0	6.854e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.025	0.00485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.356406	0.86974	D	0.274176	0.86805	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.913720	0.80871	27.4	0.97584058415749686	0.34753	0.02032	0.06091	N	AEFDBHCI	0.117194	0.22969	N	-0.0787027714682291	0.38328	2.243117	-0.47253526279424	0.22914	1.246949	0.999961225158915	0.48965	0.460665	0.09802	0	0.546412	0.12157	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.71	1.71	0.23429	0.625000	0.24171	.	.	0.517000	0.23534	0.432000	0.26424	0.000000	0.08366	0.002000	0.04165	0.6786:0.0:0.0:0.3214	3.984	0.08997	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	82829.4	287	chr3	75737676	.	A	T	82829.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.8;DP=4351;ExcessHet=48.2876;FS=2.445;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=54.86;MQRankSum=-9.984;QD=19.33;ReadPosRankSum=0.013;SOR=0.552	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:120,68:188:99:0|1:75737590_A_G:2494,0,4834:75737590	0	0	19	0
chr3	75737840	75737840	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1783A:p.E595K,ZNF717:NM_001290208:exon5:c.G1783A:p.E595K,ZNF717:NM_001290209:exon5:c.G1633A:p.E545K,ZNF717:NM_001324027:exon5:c.G1783A:p.E595K	.	370	419	727	6	0	739	0.468611	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.000881827712362	.	.	.	.	.	.	.	.	.	.	0.0177117	461	26028	rs76496075	2.859e-06	4.104e-06	4.231e-06	1.449e-06	3.707e-06	6.7e-07	4.5e-07	8.7e-07	5.9e-07	0	0	0	0	0	0	3.707e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.30656	T	0.022	0.57587	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.2	0.07236	T	-2.3	0.51157	N	0.164	0.17278	-1.0162	0.24948	T	0.024	0.10058	T	9	0.10873449	0.20253	T	8.82E-4	0.00800	T	0.063	0.18251	.	.	0.0138822411134	0.00435	0.00774685412423065	0.00739	.	.	0.43924510479	0.30473	T	.	.	.	-0.112376	0.34376	T	-0.399197	0.33477	T	0.387678323599846	0.28476	T	0.0947905	0.00704	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	0.41357	B	.	.	1.271536	0.16702	12.71	0.99193801633277179	0.55053	0.00456	0.02204	N	AEFDBHCI	0.032518	0.03688	N	-0.56728006039535	0.19945	1.047804	-0.791629829841235	0.14701	0.7694518	0.999948745414493	0.47345	0.0	0.00013	3	0.636889	0.57051	0	0.473483	0.07196	2	0.0	0.00009	3	.	.	1.9	0.993	0.18943	-0.240000	0.08970	.	.	0.415000	0.20742	0.000000	0.06391	0.000000	0.08366	0.023000	0.12082	0.0:0.8279:0.0:0.1721	6.443	0.21064	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4722	46731.8	276	chr3	75737840	.	C	T	46731.8	.	AC=17;AF=0.472;AN=36;BaseQRankSum=-2.149;DP=4419;ExcessHet=31.086;FS=11.167;InbreedingCoeff=-0.8537;MLEAC=18;MLEAF=0.5;MQ=58.89;MQRankSum=-4.862;QD=12.26;ReadPosRankSum=-0.338;SOR=0.935	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:146,38:184:99:0|1:75737814_C_T:1116,0,5736:75737814	1	0	17	1
chr3	75737881	75737881	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A1742G:p.H581R,ZNF717:NM_001290208:exon5:c.A1742G:p.H581R,ZNF717:NM_001290209:exon5:c.A1592G:p.H531R,ZNF717:NM_001324027:exon5:c.A1742G:p.H581R	.	356	594	572	0	0	572	0.325	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.389	0.00618583320825	.	.	.	.	.	.	.	.	.	.	0.0154833	403	26028	rs76729736	5.018e-06	5.475e-06	2.829e-06	7.267e-06	8.44e-05	2.09e-06	1.34e-06	2.237e-05	1.22e-05	3.194e-05	0	0	8.44e-05	0	0	0	0	3.792e-05	1.313e-05	1.312e-05	1.284e-05	1.342e-05	0.0002	2.18e-06	8.2e-07	.	.	2.405e-05	0	0	0	0.0002	0	0	0	0	0	0.031	0.45039	D	0.023	0.57104	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-2.18	0.86722	D	-7.28	0.94430	D	0.235	0.26475	0.078	0.83778	D	0.691	0.89323	D	9	0.15374556	0.29014	T	0.006186	0.16200	T	0.389	0.70521	.	.	0.26547132957	0.26150	0.029317279208247043	0.02880	.	.	0.705122470856	0.67885	T	.	.	.	0.0863372	0.62775	D	-0.113759	0.62311	T	0.349910879008873	0.27015	T	0.751425	0.37327	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.804	0.77471	P	.	.	1.529838	0.19634	14.36	0.57541806715571575	0.05792	0.27383	0.23262	N	AEFDBHCIJ	0.135649	0.25605	N	-0.602165132605538	0.18879	0.9837148	-0.767266515667793	0.15298	0.8039007	0.999994431577383	0.74766	0.566229	0.32551	0	0.615513	0.52658	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.76	0.513	0.16200	2.229000	0.42634	.	.	-0.220000	0.07995	1.000000	0.71638	0.067000	0.22148	0.002000	0.04165	0.0:0.1678:0.0:0.8322	5.415	0.15671	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4737	22517.3	279	chr3	75737881	.	T	C	22517.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.903;DP=3953;ExcessHet=38.2876;FS=17.658;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=58.41;MQRankSum=-7.695;QD=6.2;ReadPosRankSum=-4.196;SOR=1.527	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:151,16:167:99:0|1:75737881_T_C:144,0,6116:75737881	1	0	18	0
chr3	75737891	75737891	-	AAAT	exonic	ZNF717	.	frameshift insertion	ZNF717:NM_001128223:exon5:c.1731_1732insATTT:p.L578Ifs*16,ZNF717:NM_001290208:exon5:c.1731_1732insATTT:p.L578Ifs*16,ZNF717:NM_001290209:exon5:c.1581_1582insATTT:p.L528Ifs*16,ZNF717:NM_001324027:exon5:c.1731_1732insATTT:p.L578Ifs*16	.	353	691	477	1	0	479	0.257389	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004995	13	26028	rs369928577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4737	17868.3	263	chr3	75737891	.	G	GAAAT	17868.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=1.54;DP=3685;ExcessHet=38.2876;FS=22.758;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=58.24;MQRankSum=-9.11;QD=5.14;ReadPosRankSum=-4.094;SOR=1.898	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:154,13:167:57:0|1:75737881_T_C:57,0,6381:75737881	1	0	18	0
chr3	75737893	75737893	-	CTT	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.1729_1730insAAG:p.F577_P914del,ZNF717:NM_001290208:exon5:c.1729_1730insAAG:p.F577_P914del,ZNF717:NM_001290209:exon5:c.1579_1580insAAG:p.F527_P864del,ZNF717:NM_001324027:exon5:c.1729_1730insAAG:p.F577_N798del	.	356	680	485	1	0	487	0.263671	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023052	60	26028	rs373780316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4737	16790.3	259	chr3	75737893	.	A	ACTT	16790.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=0.064;DP=3615;ExcessHet=38.2876;FS=25.647;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=58.16;MQRankSum=-9.235;QD=4.92;ReadPosRankSum=-3.238;SOR=2.094	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:153,13:166:60:0|1:75737881_T_C:60,0,6337:75737881	1	0	18	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	.	.	.	.	.	.	.	.	0.4737	11257.3	145	chr3	75739283	.	G	T	11257.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-1.77;DP=1751;ExcessHet=38.2876;FS=0.577;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=54.65;MQRankSum=-4.905;QD=6.85;ReadPosRankSum=0.657;SOR=0.786	GT:AD:DP:GQ:PL	0/1:64,13:77:99:140,0,1878	1	0	18	0
chr3	98133457	98133460	CCCC	-	exonic	OR5H1	.	frameshift deletion	OR5H1:NM_001005338:exon1:c.760_763del:p.P254Ffs*31	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0036	0.0002	0.0001	0.0002	0.0001	0.0001	0.0002	0.0001	9.04e-05	0	0	5.047e-05	0	0	0.0002	0.0001	4.649e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	3550.9	41	chr3	98133456	.	ACCCC	A	3550.9	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-2.085;DP=1915;ExcessHet=4.0268;FS=132.409;InbreedingCoeff=-0.2667;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=3.91;ReadPosRankSum=1.07;SOR=10.732	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:86,32:118:99:0|1:98133456_ACCCC_A:704,0,3308:98133456	14	0	5	0
chr3	98133457	98133457	C	0	exonic	OR5H1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3636	412.34	59	chr3	98133457	.	C	*	412.34	.	AC=8;AF=0.364;AN=22;BaseQRankSum=-2.924;DP=1837;ExcessHet=5.3738;FS=137.077;InbreedingCoeff=-0.52;MLEAC=11;MLEAF=0.5;MQ=60;MQRankSum=0;QD=0.42;ReadPosRankSum=3.2;SOR=10.885	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:86,32:118:99:0|1:98133456_ACCCC_A:704,0,3308:98133456	3	0	8	8
chr3	98133459	98133459	C	0	exonic	OR5H1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3182	378.48	59	chr3	98133459	.	C	*	378.48	.	AC=7;AF=0.318;AN=22;BaseQRankSum=-1.973;DP=1809;ExcessHet=4.0268;FS=142.708;InbreedingCoeff=-0.4616;MLEAC=10;MLEAF=0.455;MQ=59.99;MQRankSum=0;QD=0.44;ReadPosRankSum=2.4;SOR=10.859	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:86,32:118:99:0|1:98133456_ACCCC_A:704,0,3308:98133456	4	0	7	8
chr3	98133460	98133460	-	GGGG	exonic	OR5H1	.	frameshift insertion	OR5H1:NM_001005338:exon1:c.763_764insGGGG:p.L255Rfs*16	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2083	4817.21	59	chr3	98133460	.	C	CGGGG	4817.21	.	AC=5;AF=0.208;AN=24;BaseQRankSum=-0.619;DP=1799;ExcessHet=6.9875;FS=160.379;InbreedingCoeff=-0.5511;MLEAC=6;MLEAF=0.25;MQ=60;MQRankSum=0;QD=4.46;ReadPosRankSum=1.07;SOR=11.277	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:85,32:117:99:0|1:98133456_ACCCC_A:707,0,3275:98133456	7	0	5	7
chr3	98133463	98133463	C	G	exonic	OR5H1	.	nonsynonymous SNV	OR5H1:NM_001005338:exon1:c.C766G:p.L256V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00126498386421	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.43085	D	0.068	0.44106	T	0.005	0.12996	B	0.053	0.25678	B	0.261193	0.15311	N	0.542116	1	0.08975	N	0.915	0.23335	L	0.99	0.41750	T	-2.16	0.48850	N	0.126	0.11912	-1.0038	0.28814	T	0.079	0.31466	T	10	0.049896806	0.04644	T	0.001265	0.01708	T	0.026	0.05648	0.296	0.26041	0.128392430309	0.12331	0.03494044702375308	0.03441	0.301753269651	0.32506	0.278658390045	0.07306	T	0.006	0.05345	T	-0.262441	0.12617	T	-0.614755	0.11603	T	0.125886231660843	0.14996	T	0.469153	0.13854	T	0.1777599	0.38759	0.102822304	0.24655	0.1777599	0.38758	0.102822304	0.24654	-4.104	0.25349	T	.	.	0.129	0.31151	B	.;.	.;.	1.199857	0.15918	12.19	0.77165719573394564	0.11763	0.00876	0.03464	N	AEFI	0.031298	0.03314	N	-1.1071760963484	0.06514	0.3000934	-1.14194788532371	0.06913	0.3344078	1.71832632022719E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.57	0.621	0.16817	-1.594000	0.02198	.	.	0.385000	0.20450	0.000000	0.06391	0.000000	0.08366	0.108000	0.18652	0.1779:0.4335:0.1738:0.2148	1.131	0.01639	773	0.48803	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1111	2226.54	47	chr3	98133463	.	C	G	2226.54	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-4.732;DP=1356;ExcessHet=1.3;FS=121.465;InbreedingCoeff=-0.1665;MLEAC=4;MLEAF=0.111;MQ=60;MQRankSum=0;QD=3.89;ReadPosRankSum=0.706;SOR=9.766	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:86,32:118:99:0|1:98133456_ACCCC_A:704,0,3297:98133456	14	0	4	1
chr3	100775333	100775333	T	C	exonic	ABI3BP	.	nonsynonymous SNV	ABI3BP:NM_015429:exon27:c.A2182G:p.I728V,ABI3BP:NM_001349332:exon28:c.A2257G:p.I753V,ABI3BP:NM_001349331:exon35:c.A2644G:p.I882V,ABI3BP:NM_001365642:exon40:c.A3010G:p.I1004V,ABI3BP:NM_001377332:exon49:c.A3589G:p.I1197V,ABI3BP:NM_001349330:exon54:c.A3913G:p.I1305V,ABI3BP:NM_001349329:exon57:c.A4123G:p.I1375V,ABI3BP:NM_001375549:exon59:c.A4288G:p.I1430V,ABI3BP:NM_001375550:exon59:c.A4294G:p.I1432V,ABI3BP:NM_001375547:exon60:c.A4336G:p.I1446V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.0042577872272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.40832	T	0.851	0.17064	T	0.11	0.26188	B	0.064	0.27215	B	0.129979	0.18676	N	0.542434	0.998149	0.23853	N	2.245	0.63543	M	2.23	0.22881	T	-0.36	0.13035	N	0.238	0.26837	-0.9907	0.32424	T	0.069	0.28113	T	10	0.1329661	0.25307	T	0.004258	0.10310	T	0.028	0.06331	0.178	0.08503	0.536287059136	0.53279	0.1284411164199673	0.12769	0.081923470924	0.09225	0.37267062068	0.21215	T	0.013394	0.13935	T	-0.217609	0.18322	T	-0.550357	0.17292	T	0.24375493824482	0.22591	T	0.640436	0.25296	T	0.023745567	0.01140	0.03538561	0.02781	0.023745567	0.01140	0.03538561	0.02780	.	.	.	.	.	0.112	0.22024	B	.;.;.	.;.;.	1.023665	0.14032	10.60	0.62105742636814754	0.06878	0.33788	0.24913	N	AEFDBIJ	0.088700	0.17982	N	-0.138409453698759	0.35730	2.055995	-0.25515300555331	0.29594	1.659267	0.971890519317384	0.29325	0.732398	0.92422	0	0.573888	0.26702	0	0.547309	0.15389	0	0.727631	0.95156	0	.	.	4.68	-1.84	0.07387	-0.061000	0.11650	0.266000	0.16602	-0.194000	0.09177	0.988000	0.36536	0.994000	0.32194	0.924000	0.46004	0.0:0.5259:0.0:0.4741	9.015	0.35326	722	0.55239	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3056	1558.48	47	chr3	100775333	.	T	C	1558.48	.	AC=11;AF=0.306;AN=36;BaseQRankSum=-0.764;DP=760;ExcessHet=8.9063;FS=127.792;InbreedingCoeff=-0.4631;MLEAC=12;MLEAF=0.333;MQ=60;MQRankSum=0;QD=3.78;ReadPosRankSum=0.311;SOR=10.42	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:11,12:23:99:.:.:120,0,159:.	7	0	11	1
chr3	112057059	112057059	T	C	exonic	TMPRSS7	.	nonsynonymous SNV	TMPRSS7:NM_001042575:exon8:c.T860C:p.F287S,TMPRSS7:NM_001366279:exon8:c.T827C:p.F276S	.	428	1066	25	3	0	31	0.0143319	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.521	.	0.0064	0.00459265	0.0065	0.0016	0.0050	0.0001	0.0008	0.0072	0.0101	0.0128	0.0064682	1000	154602	rs141142047	0.0066	0.0067	0.0065	0.0068	0.0170	0.0065	0.0065	0.0143	0.0133	0.0013	0.0069	0.0089	2.521e-05	0.0011	0.0170	0.0068	0.0080	0.0104	0.0054	0.0054	0.0054	0.0054	0.0091	0.0051	0.0050	0.0079	0.0074	0.0015	0	0.0091	0.0109	0	0.0012	0.0068	0.0074	0.0099	0.0089	0.001	0.78490	D	0.028	0.56640	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999956	0.52396	D	2.495	0.72670	M	0.72	0.50976	T	-6.25	0.90568	D	0.909	0.91047	-0.6506	0.62688	T	0.204	0.56114	T	10	0.021408916	0.00512	T	.	.	.	0.521	0.79643	.	.	0.779737604534	0.77770	0.8576990534865051	0.85732	0.551012216591	0.51955	0.687632322311	0.65365	T	0.113788	0.43110	T	-0.0652983	0.42074	T	0.143815	0.79792	D	0.025992948649218	0.01405	T	0.837416	0.50983	T	0.8668933	0.88617	0.85431194	0.91794	0.8668933	0.88619	0.85431194	0.91794	-12.842	0.88888	D	.	.	0.986	0.92404	P	.;.;.	.;.;.	4.827556	0.78691	26.9	0.99902571316446365	0.97426	0.95205	0.63827	D	AEFBI	0.729572	0.67724	D	0.740764466384371	0.82301	7.729235	0.745601846988102	0.85829	8.698615	0.999994077417377	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.87	5.87	0.94266	6.101000	0.71131	7.797000	0.69042	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.096	0.64551	712	0.56465	CUB domain|CUB domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.010101	0.010870	0.008772	0.050000	0.034483	0.027439	0.022727	0.02632	1129.33	33	chr3	112057059	.	T	C	1129.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.546;DP=707;ExcessHet=0;FS=2.769;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.41;ReadPosRankSum=-0.54;SOR=1.051	GT:AD:DP:GQ:PL	0/1:47,44:91:99:1143,0,1144	18	0	1	0
chr3	112349838	112349838	T	A	exonic	CD200	.	nonsynonymous SNV	CD200:NM_001365851:exon5:c.T821A:p.V274D	.	435	1074	13	0	0	13	0.00601573	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0039	0.000998403	0.0030	0.0009	0.0011	0	0.0005	0.0041	0.0023	0.0034	0.0029172	451	154602	rs141526201	0.0043	0.0043	0.0044	0.0043	0.0057	0.0042	0.0042	0.0049	0.0049	0.0013	0.0009	0.0014	5.104e-05	0.0009	0.0057	0.0050	0.0035	0.0030	0.0026	0.0026	0.0030	0.0022	0.0045	0.0024	0.0023	0.0041	0.0039	0.0008	0.0011	0.0018	0.0014	0	0.0005	0	0.0045	0.0019	0.0039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1395.33	35	chr3	112349838	.	T	A	1395.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.425;DP=740;ExcessHet=0;FS=1.632;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.55;ReadPosRankSum=-0.382;SOR=0.51	GT:AD:DP:GQ:PL	0/1:46,57:103:99:1409,0,1238	18	0	1	0
chr3	112995145	112995145	A	G	exonic	GTPBP8	.	nonsynonymous SNV	GTPBP8:NM_138485:exon2:c.A347G:p.K116R,GTPBP8:NM_014170:exon3:c.A446G:p.K149R	.	433	1085	4	0	0	4	0.00183993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.00772538363916	0.0028	0.00159744	0.0043	0.0008	0.0016	0	0.0039	0.0067	0.0011	0.0011	0.0042237	653	154602	rs148441248	0.0038	0.0039	0.0039	0.0037	0.0044	0.0037	0.0037	0.0043	0.0043	0.0007	0.0018	3.899e-05	0	0.0035	0.0016	0.0044	0.0037	0.0012	0.0032	0.0032	0.0034	0.0030	0.0047	0.0030	0.0029	0.0043	0.0042	0.0009	0.0230	0.0038	0	0	0.0034	0	0.0047	0.0043	0.0004	0.099	0.53172	T	0.207	0.34837	T	0.1	0.34593	B	0.107	0.38902	B	0.104350	0.19707	N	0.552717	0.838986	0.81001	D	0.05	0.08135	N	2.69	0.41392	T	-1.58	0.38151	N	0.368	0.47949	-1.0815	0.07060	T	0.055	0.23186	T	10	0.008291602	0.00188	T	0.007725	0.20483	T	0.068	0.19811	.	.	0.0551355673512	0.04727	0.5830510845061457	0.58234	0.106196479679	0.12011	0.562918543816	0.47679	T	0.007539	0.15507	T	-0.28076	0.10587	T	-0.170941	0.57356	T	0.0345167606473334	0.02725	T	0.918208	0.70605	D	0.07598313	0.17156	0.08414591	0.19334	0.07598313	0.17156	0.08414591	0.19334	-8.501	0.64436	D	.	.	0.109	0.20857	B	.;.;.;.	.;.;.;.	3.601940	0.50884	23.0	0.99865718969210548	0.94366	0.94828	0.62470	D	AEFBI	0.564716	0.57139	D	-0.0524318513382396	0.39495	2.32991	0.120097556906409	0.45577	2.818491	0.999998337406157	0.74766	0.732398	0.92422	0	0.627608	0.54475	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.72	4.57	0.55860	5.935000	0.69862	9.350000	0.80289	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.9233:0.0:0.0767:0.0	10.555	0.44299	455	0.79073	GTP binding domain|EngB-type guanine nucleotide-binding (G) domain;.;GTP binding domain|EngB-type guanine nucleotide-binding (G) domain;GTP binding domain|EngB-type guanine nucleotide-binding (G) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.005435	0.000000	0.000000	0.000000	0.003049	0.003788	0.05263	1521.83	33	chr3	112995145	.	A	G	1521.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.449;DP=763;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=8.14;ReadPosRankSum=-0.506;SOR=0.655	GT:AD:DP:GQ:PL	0/1:54,40:94:99:856,0,1382	17	0	2	0
chr3	121697608	121697608	C	T	exonic	GOLGB1	.	nonsynonymous SNV	GOLGB1:NM_001256488:exon12:c.G2675A:p.S892N,GOLGB1:NM_001366283:exon12:c.G2792A:p.S931N,GOLGB1:NM_001366284:exon12:c.G2675A:p.S892N,GOLGB1:NM_001256486:exon13:c.G2915A:p.S972N,GOLGB1:NM_001256487:exon13:c.G2798A:p.S933N,GOLGB1:NM_001366282:exon13:c.G2915A:p.S972N,GOLGB1:NM_004487:exon13:c.G2900A:p.S967N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.0055666730905	.	.	0.0002	0	0	0	0	0.0004	0	0	0.0001746	27	154602	rs778004960	6.574e-05	6.636e-05	7.359e-05	5.78e-05	8.457e-05	5.5e-05	5.112e-05	7.05e-05	6.543e-05	2.998e-05	0	0	0	0	0	8.457e-05	1.657e-05	0	1.316e-05	1.314e-05	1.286e-05	1.347e-05	2.942e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.942e-05	0	0	0.261	0.16738	T	0.371	0.16425	T	0.001	0.07471	B	0.003	0.08700	B	0.408103	0.13033	N	0.739273	1	0.08975	N	1.2	0.30300	L	2.45	0.24472	T	-0.05	0.13418	N	0.083	0.05929	-1.0015	0.29488	T	0.036	0.15334	T	10	0.038387537	0.02253	T	0.005567	0.14379	T	0.010	0.01040	.	.	0.170165803431	0.16609	0.037615456697216235	0.03707	0.0975493673825	0.11016	0.338142246008	0.16160	T	0.011343	0.10136	T	-0.518972	0.00446	T	-0.687051	0.06562	T	0.355778306722641	0.27244	T	0.69713	0.36376	T	0.025965443	0.01596	0.04456666	0.05802	0.025965443	0.01595	0.04456666	0.05802	-3.888	0.22948	T	.	.	0.068	0.03372	B	.;.;.;.	.;.;.;.	-0.165862	0.03270	0.558	0.56106229042003131	0.05481	0.03532	0.08721	N	AEFBI	0.039459	0.05734	N	-1.19125646828008	0.05132	0.2332122	-1.23530746019028	0.05352	0.2547985	0.0878450262559025	0.16045	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.35	-1.89	0.07271	-2.009000	0.01544	-0.178000	0.11160	-0.176000	0.10722	0.000000	0.06391	0.020000	0.20764	0.881000	0.42162	0.1378:0.2768:0.1232:0.4621	2.032	0.03317	398	0.82839	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3824	984.38	130	chr3	121697608	.	C	T	984.38	.	AC=13;AF=0.382;AN=34;BaseQRankSum=-3.025;DP=2253;ExcessHet=13.8672;FS=218.138;InbreedingCoeff=-0.6104;MLEAC=14;MLEAF=0.412;MQ=60;MQRankSum=0;QD=0.7;ReadPosRankSum=0.975;SOR=12.96	GT:AD:DP:GQ:PL	0/1:72,33:112:85:85,0,1523	4	0	13	2
chr3	122409790	122409790	C	T	exonic	FAM162A	.	nonsynonymous SNV	FAM162A:NM_014367:exon5:c.C424T:p.R142C	.	433	1087	2	0	0	2	0.000919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.00695633036593	0.0010	0.00119808	0.0012	0.0003	0.0011	0	0	0.0018	0	0.0010	0.0012354	191	154602	rs200828064	0.0017	0.0017	0.0017	0.0017	0.0019	0.0016	0.0016	0.0019	0.0018	0.0003	0.0016	3.826e-05	0	0.0001	0.0017	0.0019	0.0015	0.0011	0.0012	0.0012	0.0011	0.0013	0.0037	0.0011	0.0010	0.0029	0.0026	0.0003	0	0.0037	0	0	9.441e-05	0.0034	0.0015	0.0014	0.0015	0.078	0.35165	T	0.074	0.43913	T	1.0	0.90584	D	0.938	0.67350	D	0.852977	0.07069	N	1.063990	0.992975	0.41798	D	2.2	0.62015	M	1.35	0.34648	T	-4.64	0.79316	D	0.482	0.51672	-0.6882	0.60992	T	0.260	0.63110	T	10	0.020639926	0.00479	T	0.006956	0.18402	T	0.274	0.59007	.	.	0.718990368013	0.71651	0.5326395550435546	0.53188	0.38152030644	0.39505	0.342588871717	0.16826	T	0.039027	0.25047	T	-0.361466	0.04047	T	-0.305227	0.44171	T	0.043101588203678	0.04256	T	0.889111	0.62070	D	0.253392	0.48360	0.19107679	0.42546	0.253392	0.48360	0.19107679	0.42545	-10.546	0.77111	D	.	.	0.234	0.46722	B	.;.	.;.	3.957508	0.58015	23.9	0.9950742718750536	0.68440	0.93321	0.57904	D	AEFDGBI	0.733638	0.68002	D	0.393175693818725	0.61052	4.301246	0.472325041761356	0.66163	4.916401	0.99999999915101	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.44	5.44	0.79348	3.185000	0.50635	7.697000	0.66086	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	14.636	0.68287	467	0.78285	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	510.33	33	chr3	122409790	.	C	T	510.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.927;DP=688;ExcessHet=0;FS=2.235;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.23;ReadPosRankSum=0.103;SOR=1.085	GT:AD:DP:GQ:PL	0/1:40,22:62:99:524,0,1022	18	0	1	0
chr3	122415486	122415486	G	T	exonic	WDR5B	.	nonsynonymous SNV	WDR5B:NM_019069:exon1:c.C43A:p.L15I	.	433	1087	2	0	0	2	0.000919118	.	.	.	2754364	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.035	0.00444761306482	.	.	0.0002	0	8.648e-05	0	0	0.0002	0	0.0003	0.0001423	22	154602	rs772415715	0.0001	0.0001	0.0001	0.0001	0.0003	0.0001	0.0001	0.0002	0.0002	2.987e-05	6.715e-05	0	0	0	0.0002	0.0001	0.0002	0.0003	5.257e-05	5.253e-05	2.57e-05	8.069e-05	0.0001	2.557e-05	1.83e-05	4.765e-05	3.339e-05	0	0	0	0	0	0	0	0.0001	0.0005	0	0.489	0.08018	T	0.213	0.26467	T	0.006	0.13644	B	0.01	0.14941	B	0.058237	0.22418	N	0.507705	1	0.08975	N	0	0.06538	N	0.72	0.50976	T	-0.07	0.08033	N	0.144	0.14480	-1.0433	0.16324	T	0.059	0.24612	T	10	0.058737755	0.06953	T	0.004448	0.10906	T	0.035	0.08770	0.253	0.19223	0.337868961071	0.33390	0.2485554253703162	0.24769	0.0813357452052	0.09147	0.242609456182	0.03030	T	0.015631	0.13075	T	-0.375267	0.03336	T	-0.476498	0.24819	T	0.0575135079697148	0.06771	T	0.761624	0.38671	T	0.06879444	0.15018	0.07675686	0.17034	0.06879444	0.15018	0.07675686	0.17033	-3.719	0.19599	T	.	.	0.062	0.01233	B	.	.	1.122082	0.15080	11.57	0.60110087276938962	0.06384	0.25819	0.22812	N	ALL	0.101370	0.20361	N	-0.88168658867708	0.11278	0.5434318	-0.853629670099769	0.13201	0.6834966	0.999999964772302	0.74766	0.266657	0.04791	1	0.093493	0.02558	3	0.47417	0.07244	0	0.372554	0.06265	0	.	.	4.78	1.96	0.25203	1.936000	0.39812	0.821000	0.21853	0.676000	0.76740	0.987000	0.36337	0.000000	0.08366	0.116000	0.19000	0.1497:0.1702:0.6801:0.0	6.699	0.22404	444	0.79803	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1711.33	34	chr3	122415486	.	G	T	1711.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.99;DP=834;ExcessHet=0;FS=4.283;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.49;ReadPosRankSum=0.425;SOR=1.067	GT:AD:DP:GQ:PL	0/1:90,59:149:99:1725,0,2568	18	0	1	0
chr3	128055734	128055734	T	C	exonic	SEC61A1	.	nonsynonymous SNV	SEC61A1:NM_013336:exon4:c.T203C:p.I68T	Hyperuricemic nephropathy, familial juvenile, 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.573	0.091247723289	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.258e-05	0.0002	2.676e-05	1.839e-05	9.196e-05	1.634e-05	1.399e-05	2.437e-05	1.642e-05	9.196e-05	0	0	0	0	0	2.708e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	0.813	0.45457	P	0.991	0.79672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.275	0.90144	M	.	.	.	-4.32	0.78135	D	0.916	0.91852	0.283	0.87277	D	0.586	0.85162	D	9	0.86147714	0.85369	D	0.091248	0.75671	D	0.573	0.82686	0.675	0.81299	0.76620622527	0.76407	0.9592012447472799	0.95906	2.62425591286	0.98291	0.937776684761	0.99368	D	0.171646	0.89009	T	0.407234	0.90327	D	0.347187	0.90207	D	0.99201911687851	0.82399	D	0.982235	0.93989	D	0.61355335	0.73418	0.63325304	0.78597	0.61355335	0.73420	0.63325304	0.78598	-14.305	0.94006	D	0.9309146123572548	0.97183	0.995	0.95337	P	.;.;.	.;.;.	4.978580	0.82446	27.8	0.99818939875784696	0.90238	0.96469	0.69293	D	AEFBCI	0.955470	0.97334	D	0.872628912596572	0.90357	10.36711	0.841034471038791	0.92481	11.45152	0.999999999999953	0.74766	0.706548	0.73137	0	0.672317	0.65289	0	0.724815	0.87919	0	0.638787	0.57140	0	.	.	5.96	5.96	0.96695	8.017000	0.88732	7.920000	0.74475	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:0.0:0.0:1.0	16.434	0.83709	652	0.62785	Translocon Sec61/SecY, plug domain;Translocon Sec61/SecY, plug domain;Translocon Sec61/SecY, plug domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4211	2855.05	66	chr3	128055734	.	T	C	2855.05	.	AC=16;AF=0.421;AN=38;BaseQRankSum=-2.098;DP=1413;ExcessHet=25.4433;FS=109.351;InbreedingCoeff=-0.7273;MLEAC=16;MLEAF=0.421;MQ=60;MQRankSum=0;QD=2.39;ReadPosRankSum=1.13;SOR=11.386	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:58,29:87:99:.:.:314,0,1167:.	3	0	16	0
chr3	128906229	128906229	C	T	exonic	ACAD9	.	nonsynonymous SNV	ACAD9:NM_014049:exon12:c.C1258T:p.R420C	Mitochondrial complex I deficiency due to ACAD9 deficiency, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	292574	not_provided|Acyl-CoA_dehydrogenase_9_deficiency	MedGen:C3661900|MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126,Orphanet:99901	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.891	0.446789579215	0.0002	0.000199681	5.777e-05	9.628e-05	0.0002	0	0	6.011e-05	0	0	5.17e-05	8	154602	rs202147766	6.772e-05	6.772e-05	7.079e-05	6.463e-05	0.0007	5.67e-05	5.261e-05	0.0002	0.0001	5.974e-05	6.708e-05	0	2.519e-05	0	0.0007	7.374e-05	0.0001	0	3.938e-05	3.937e-05	5.137e-05	2.685e-05	7.349e-05	1.714e-05	1.128e-05	2.846e-05	1.858e-05	0	0	6.531e-05	0	0	0	0	7.349e-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	0.045124	1	0.81001	D	4.105	0.97342	H	-4.22	0.96982	D	-7.81	0.95950	D	0.907	0.90818	1.066	0.98474	D	0.966	0.98927	D	10	0.9837326	0.98527	D	0.44679	0.94267	D	0.891	0.96873	.	.	0.992482964149	0.99239	0.9425149098301583	0.94232	0.870746733738	0.69391	0.64967751503	0.59941	T	0.93784	0.99000	D	0.356724	0.86999	D	0.529679	0.95229	D	0.999132692813873	0.96293	D	0.989888	0.96793	D	0.9625511	0.97536	0.8121228	0.89035	0.9625511	0.97536	0.8121228	0.89036	-13.829	0.92488	D	0.9449545960204117	0.97949	0.579	0.68015	P	.	.	5.128641	0.85820	28.7	0.99935474535165836	0.99579	0.86179	0.45410	D	AEFDBI	0.390792	0.46948	N	0.888990409793398	0.91210	10.76935	0.769132794796661	0.87577	9.270833	0.770022450954549	0.23656	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.46	4.5	0.54382	2.195000	0.42310	1.419000	0.26347	0.599000	0.40250	0.970000	0.34288	0.732000	0.26423	0.957000	0.51019	0.2013:0.7987:0.0:0.0	12.406	0.54777	597	0.68309	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	.	.	.	.	.	.	.	.	0.02632	888.33	35	chr3	128906229	.	C	T	888.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.054;DP=699;ExcessHet=0;FS=3.14;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.39;ReadPosRankSum=0.572;SOR=1.143	GT:AD:DP:GQ:PL	0/1:42,36:78:99:902,0,1059	18	0	1	0
chr3	129001672	129001672	C	A	exonic	EFCC1	.	nonsynonymous SNV	EFCC1:NM_001377500:exon1:c.C44A:p.A15E,EFCC1:NM_001377501:exon1:c.C44A:p.A15E,EFCC1:NM_024768:exon1:c.C44A:p.A15E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.467839088906	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.091e-06	8.224e-06	3.025e-06	3.16e-06	3.869e-06	7.2e-07	4.9e-07	9.1e-07	6.1e-07	0	0	0	0	0	0	3.869e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.52389	D	0.935	0.52277	P	0.693	0.53889	P	0.027204	0.25793	U	0.297853	1	0.81001	D	1.995	0.54099	M	.	.	.	.	.	.	0.177	0.19055	-0.8919	0.48767	T	0.156	0.48790	T	10	0.24058536	0.41220	T	0.467839	0.94627	D	.	.	0.155	0.05858	0.0297737177859	0.01360	0.043447255684841396	0.04289	.	.	0.815758824348	0.84378	D	0.003895	0.03302	T	-0.0820252	0.39386	T	-0.3556	0.38561	T	0.806812926116893	0.46823	D	0.417558	0.11011	T	0.24500819	0.47455	0.4319665	0.66797	0.24500819	0.47455	0.4319665	0.66797	-5.103	0.37939	T	.	.	0.107	0.20117	B	.	.	2.898443	0.38406	20.7	0.98812634535318666	0.46639	0.57125	0.30295	D	AEFDBHCIJ	0.116285	0.22829	N	-0.170884883040074	0.34351	1.959611	-0.314768486850872	0.27621	1.534006	0.999998945647974	0.74766	0.437478	0.07067	0	0.563428	0.19063	0	0.606814	0.37721	0	0.603991	0.37454	0	.	.	2.12	2.12	0.26372	1.386000	0.34025	0.730000	0.21079	0.462000	0.21616	0.659000	0.28251	0.052000	0.21854	0.632000	0.32210	0.0:1.0:0.0:0.0	7.826	0.28478	599	0.68140	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1088.33	31	chr3	129001672	.	C	A	1088.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.758;DP=694;ExcessHet=0;FS=3.046;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.93;ReadPosRankSum=1.12;SOR=1.335	GT:AD:DP:GQ:PL	0/1:17,35:52:99:1102,0,399	18	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	.	.	.	.	.	.	.	.	0.1875	5712.42	63	chr3	130421335	.	G	A	5712.42	.	AC=6;AF=0.188;AN=32;BaseQRankSum=-0.729;DP=1224;ExcessHet=20.8569;FS=266.52;InbreedingCoeff=-0.7674;MLEAC=6;MLEAF=0.188;MQ=60;MQRankSum=0;QD=5.89;ReadPosRankSum=1.91;SOR=10.236	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:27,20:47:99:0|1:130421335_G_A:516,0,701:130421335	10	0	6	3
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	.	.	.	.	.	.	.	.	0.4062	6329.56	63	chr3	130421337	.	T	C	6329.56	.	AC=13;AF=0.406;AN=32;BaseQRankSum=0.201;DP=1213;ExcessHet=25.4433;FS=261.259;InbreedingCoeff=-0.8537;MLEAC=14;MLEAF=0.438;MQ=60;MQRankSum=0;QD=6.15;ReadPosRankSum=1.66;SOR=10.386	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:27,20:47:99:0|1:130421335_G_A:516,0,701:130421335	3	0	13	3
chr3	132722337	132722337	G	C	exonic	NPHP3	.	nonsynonymous SNV	NPHP3:NM_153240:exon1:c.C19G:p.L7V	Meckel syndrome 7, Autosomal recessive;Nephronophthisis 3, Autosomal recessive;Renal-hepatic-pancreatic dysplasia 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248	0.96855461011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.50676	D	0.033	0.92824	D	0.451	0.36091	B	0.112	0.31615	B	0.000294	0.46274	D	0.089231	0.994696	0.42380	D	0.695	0.17993	N	-3.18	0.93111	D	-0.18	0.40274	N	0.358	0.52208	-0.3177	0.74486	T	0.543	0.83185	D	10	0.3639266	0.52950	T	0.968555	0.99806	D	0.248	0.55615	0.193	0.10437	0.79156988546	0.78963	0.45654433021310153	0.45572	0.28891512826	0.31300	0.906275808811	0.97106	D	0.148213	0.48666	T	0.126815	0.67050	D	-0.0556158	0.66637	D	0.329304069280624	0.26196	T	0.90181	0.65830	D	0.4969813	0.66917	0.29475403	0.55506	0.4969813	0.66918	0.29475403	0.55505	-2.691	0.14417	T	0.3939016366476133	0.48669	0.120	0.48521	B	.;.	.;.	2.888470	0.38249	20.7	0.99020690815289625	0.50569	0.74324	0.36358	D	ALL	0.264488	0.38182	N	-0.568644516740783	0.19902	1.045263	-0.576364074271323	0.20111	1.081993	0.999999812971179	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.519653	0.09787	0	0.249971	0.05119	0	.	.	3.58	1.71	0.23429	1.791000	0.38377	4.171000	0.42274	0.509000	0.23192	0.982000	0.35529	1.000000	0.68203	0.183000	0.21389	0.2795:0.0:0.7205:0.0	8.318	0.31272	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	.	.	.	.	.	.	.	.	0.02632	948.33	43	chr3	132722337	.	G	C	948.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.979;DP=730;ExcessHet=0;FS=2.777;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.66;ReadPosRankSum=-0.687;SOR=0.446	GT:AD:DP:GQ:PL	0/1:47,42:89:99:962,0,1169	18	0	1	0
chr3	149140447	149140447	G	A	exonic	HPS3	.	nonsynonymous SNV	HPS3:NM_032383:exon2:c.G661A:p.V221I	Hermansky-Pudlak syndrome 3	.	.	.	.	.	.	.	.	.	.	1881855	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.021	0.0233615148823	.	.	2.489e-05	0.0003	0	0	0	0	0	0	2.59e-05	4	154602	rs143063861	1.164e-05	1.163e-05	1.499e-05	8.26e-06	0.0003	7.09e-06	5.8e-06	0.0002	0.0001	0.0003	8.964e-05	0	0	0	0	9.002e-07	3.314e-05	0	0.0001	0.0001	0.0001	0.0001	0.0004	7.581e-05	6.285e-05	0.0003	0.0002	0.0004	0	6.545e-05	0	0	0	0	0	0	0	0.157	0.23997	T	0.458	0.12668	T	0.002	0.09854	B	0.004	0.10090	B	0.291479	0.14761	N	0.635484	1	0.08975	N	1.495	0.37439	L	-0.08	0.63911	T	-0.3	0.11913	N	0.172	0.18376	-1.0305	0.20292	T	0.112	0.40075	T	10	0.047745645	0.04132	T	0.023362	0.46316	T	0.021	0.04004	.	.	0.485275477626	0.48159	0.1403249545493893	0.13955	0.474521150152	0.46639	0.284571111202	0.08138	T	0.086197	0.37672	T	-0.503186	0.00549	T	-0.591818	0.13510	T	0.0320944599807262	0.02321	T	0.627137	0.24302	T	0.023032779	0.01011	0.035012756	0.02673	0.023032779	0.01010	0.035012756	0.02672	-3.418	0.15300	T	0.3356839481455061	0.43360	0.071	0.03773	B	.	.	1.066231	0.14482	11.05	0.93617748478542118	0.23484	0.06008	0.11973	N	AEFGBI	0.047024	0.07874	N	-1.08296411548186	0.06956	0.3217651	-1.03893290378048	0.08939	0.4420479	0.934558233653688	0.27176	0.706298	0.61202	0	0.80507	0.99744	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.46	1.54	0.22290	0.907000	0.28154	1.414000	0.26305	-0.106000	0.15538	0.121000	0.23193	0.667000	0.26046	0.891000	0.42908	0.2675:0.1163:0.6162:0.0	7.592	0.27197	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	0	0	.	.	.	.	.	.	.	.	0.02778	538.67	73	chr3	149140447	.	G	A	538.67	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-2.872;DP=1351;ExcessHet=0.3672;FS=95.1;InbreedingCoeff=-0.1015;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=1.84;ReadPosRankSum=1.9;SOR=9.117	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:79,26:112:80:.:.:80,0,1456:.	17	0	1	1
chr3	150410374	150410374	C	T	exonic	TSC22D2	.	nonsynonymous SNV	TSC22D2:NM_001303264:exon1:c.C1024T:p.P342S,TSC22D2:NM_014779:exon1:c.C1024T:p.P342S	.	415	1101	6	0	0	6	0.00271739	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.0076321161382	0.0003	0.000399361	0.0011	0	0.0031	0	0	0.0013	0	0.0003	0.0008021	124	154602	rs201624303	0.0006	0.0006	0.0006	0.0007	0.0185	0.0006	0.0006	0.0156	0.0146	0.0005	0.0018	0.0025	0	0	0.0185	0.0005	0.0011	0.0001	0.0006	0.0006	0.0007	0.0006	0.0013	0.0005	0.0005	0.0009	0.0007	0.0001	0	0.0013	0.0020	0	0	0.0377	0.0007	0.0028	0.0002	0.054	0.38633	T	0.143	0.33219	T	0.099	0.25639	B	0.055	0.25995	B	0.065523	0.21874	N	0.379920	0.902866	0.36214	D	1.39	0.34934	L	1.52	0.30669	T	-1.92	0.44657	N	0.097	0.07811	-1.0560	0.12776	T	0.052	0.22153	T	10	0.003964931	0.00076	T	0.007632	0.20246	T	0.030	0.07022	.	.	0.0675242888579	0.06100	0.3004463357521972	0.29957	.	.	0.592732131481	0.51880	T	0.009947	0.09021	T	-0.53234	0.00372	T	-0.54471	0.17836	T	0.0600328401745895	0.07174	T	0.789521	0.42989	T	0.13773008	0.31879	0.11777066	0.28430	0.13773008	0.31878	0.11777066	0.28429	-4.257	0.27570	T	.	.	0.065	0.01834	B	.	.	1.587164	0.20305	14.69	0.99076738980367907	0.51858	0.23049	0.21949	N	ALL	0.171704	0.29869	N	-0.503662913502919	0.21962	1.169307	-0.436769850692242	0.23925	1.307418	0.999999999999998	0.74766	0.72623	0.87236	0	0.52208	0.09955	0	0.594344	0.31042	0	0.56214	0.19341	0	.	.	3.78	3.78	0.42629	0.713000	0.25464	1.117000	0.24210	0.591000	0.32079	0.012000	0.18695	0.271000	0.24048	0.146000	0.20164	0.0:1.0:0.0:0.0	15.433	0.74838	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	0.011111	0.025510	0.006793	0.029240	0.000000	0.008621	0.006098	0.003788	0.02632	1735.33	35	chr3	150410374	.	C	T	1735.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.535;DP=952;ExcessHet=0;FS=5.233;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.05;ReadPosRankSum=-0.608;SOR=0.726	GT:AD:DP:GQ:PL	0/1:65,68:133:99:1749,0,1784	18	0	1	0
chr3	151447129	151447129	G	T	exonic	IGSF10	.	nonsynonymous SNV	IGSF10:NM_001385061:exon5:c.C2852A:p.T951K,IGSF10:NM_001385060:exon6:c.C2852A:p.T951K,IGSF10:NM_178822:exon6:c.C2852A:p.T951K,IGSF10:NM_001385062:exon7:c.C2852A:p.T951K,IGSF10:NM_001385063:exon7:c.C2852A:p.T951K	.	430	1059	32	1	0	34	0.0157993	.	.	.	1574776	not_provided|IGSF10-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.021	.	0.0083	0.00179712	0.0065	0.0017	0.0028	0	0.0036	0.0098	0.0055	0.0033	0.0063065	975	154602	rs34197438	0.0084	0.0084	0.0085	0.0082	0.0114	0.0082	0.0082	0.0094	0.0093	0.0019	0.0032	0.0125	2.519e-05	0.0037	0.0114	0.0096	0.0079	0.0038	0.0058	0.0058	0.0063	0.0053	0.0095	0.0055	0.0054	0.0088	0.0086	0.0016	0	0.0045	0.0104	0.0002	0.0042	0.0034	0.0095	0.0062	0.0023	0.022	0.48642	D	0.021	0.58089	D	0.024	0.19075	B	0.009	0.14300	B	0.376526	0.13450	N	0.617423	1	0.08975	N	1.95	0.52479	M	-0.26	0.67187	T	-1.53	0.37178	N	0.244	0.27554	-1.0495	0.14537	T	0.078	0.31133	T	10	0.0036440492	0.00067	T	.	.	.	0.021	0.04004	.	.	0.415947407303	0.41207	0.3970992224791316	0.39624	0.0788734340217	0.08873	0.23283341527	0.02184	T	0.002737	0.02125	T	-0.491033	0.00641	T	-0.467723	0.25763	T	0.00452521683333631	0.00048	T	0.510449	0.16283	T	0.07119942	0.15745	0.09973796	0.23825	0.07119942	0.15744	0.09973796	0.23825	-3.526	0.16798	T	.	.	0.119	0.24396	B	.	.	0.273608	0.06509	2.991	0.94026698343412329	0.24138	0.03615	0.08851	N	AEFBI	0.095518	0.19297	N	-1.07326612314621	0.07139	0.3307499	-1.07560448843985	0.08182	0.4011916	0.783642499272121	0.23890	0.581397	0.33459	0	0.573888	0.26702	0	0.565031	0.19037	0	0.542086	0.14980	0	.	.	4.61	0.528	0.16282	-0.102000	0.10926	0.222000	0.16086	0.618000	0.50648	0.000000	0.06391	0.000000	0.08366	0.035000	0.13729	0.3604:0.0:0.463:0.1766	4.819	0.12747	813	0.42397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.012588	0.020202	0.014946	0.017544	0.000000	0.008621	0.006098	0.011364	0.02632	3081.33	34	chr3	151447129	.	G	T	3081.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.45;DP=1029;ExcessHet=0;FS=5.518;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.07;ReadPosRankSum=-1.51;SOR=0.858	GT:AD:DP:GQ:PL	0/1:107,112:219:99:3095,0,2963	18	0	1	0
chr3	155853645	155853645	G	C	exonic	SLC33A1	.	nonsynonymous SNV	SLC33A1:NM_001190992:exon1:c.C353G:p.P118R,SLC33A1:NM_001363883:exon1:c.C353G:p.P118R,SLC33A1:NM_004733:exon1:c.C353G:p.P118R	Congenital cataracts, hearing loss, and neurodegeneration, Autosomal recessive;Spastic paraplegia 42, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1016191	Hereditary_spastic_paraplegia_42	MONDO:MONDO:0012928,MedGen:C2675528,OMIM:612539,Orphanet:171863	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.936	0.221168805032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0016	0.0008	0.0007	0.0009	0.0007	0.0007	0.0008	0.0008	0.0009	0	0.0003	0.0002	0	0.0002	0.0008	0.0006	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.048477	1	0.81001	D	4.29	0.98219	H	-1.41	0.80560	T	-8.72	0.97670	D	0.955	0.96416	0.779	0.94149	D	0.787	0.92761	D	10	0.9656291	0.96041	D	0.221169	0.87793	D	0.936	0.98563	0.852	0.95318	0.981310105081	0.98110	0.9652344313428964	0.96510	2.3006740423	0.96469	0.845638930798	0.88955	D	0.814515	0.95400	D	0.434482	0.91756	D	0.386327	0.91654	D	0.999483108520508	0.97590	D	0.999658	0.99877	D	0.97771263	0.98930	0.9704348	0.99484	0.97771263	0.98930	0.9704348	0.99484	-15.861	0.97545	D	0.9924786288168476	0.99821	0.997	0.97160	P	.;.;.;.	.;.;.;.	5.657968	0.92855	33	0.99869421297510097	0.94726	0.91924	0.54558	D	AEFDBCI	.	.	.	1.03282578913964	0.96667	14.98475	0.957979052715463	0.97636	16.478	1.0	0.98316	0.542737	0.22433	0	0.52208	0.09955	0	0.685571	0.62057	0	0.56214	0.19341	0	.	.	5.57	5.57	0.84021	7.744000	0.83944	11.860000	0.98299	0.675000	0.71128	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	19.982	0.97333	839	0.37672	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2778	5341.98	127	chr3	155853645	.	G	C	5341.98	.	AC=10;AF=0.278;AN=36;BaseQRankSum=-3.876;DP=2144;ExcessHet=11.1788;FS=271.216;InbreedingCoeff=-0.4797;MLEAC=10;MLEAF=0.278;MQ=60;MQRankSum=0;QD=3.75;ReadPosRankSum=1.48;SOR=12.437	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:78,33:111:99:.:.:271,0,2238:.	8	0	10	1
chr3	160423518	160423518	C	T	exonic	SMC4	.	nonsynonymous SNV	SMC4:NM_005496:exon13:c.C2113T:p.R705C,SMC4:NM_001002800:exon14:c.C2113T:p.R705C,SMC4:NM_001288753:exon14:c.C2038T:p.R680C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.721	0.0723627988006	.	.	8.302e-06	0	0	0	0	0	0	6.061e-05	1.29e-05	2	154602	rs760971978	1.505e-05	1.505e-05	1.634e-05	1.375e-05	3.48e-05	9.85e-06	8.42e-06	9.24e-06	6.89e-06	0	2.236e-05	0	2.521e-05	0	0	1.439e-05	1.656e-05	3.48e-05	1.317e-05	1.314e-05	2.573e-05	0	4.838e-05	2.19e-06	8.2e-07	8.02e-06	3e-06	4.838e-05	0	0	0	0	0	0	0	0	0	0.014	0.54683	D	0.025	0.56192	D	1.0	0.90584	D	0.975	0.73362	D	0.000002	0.62929	D	0.099662	1	0.81001	D	2.905	0.84014	M	-2.16	0.86549	D	-2.51	0.58896	D	0.564	0.58883	0.692	0.93079	D	0.794	0.93018	D	10	0.39175868	0.54942	T	0.072363	0.71512	D	0.721	0.90146	0.632	0.76810	0.922248795929	0.92146	0.7649930140919271	0.76448	0.307190005126	0.33019	0.416585385799	0.27368	T	0.613584	0.87789	D	0.126945	0.67063	D	0.126099	0.78636	D	0.92729252576828	0.59007	D	0.984801	0.94749	D	0.608103	0.73126	0.30246556	0.56278	0.608103	0.73127	0.30246556	0.56277	-8.48	0.64297	D	.	.	0.110	0.29995	B	.;.;.;.	.;.;.;.	5.122113	0.85684	28.7	0.99937805775810284	0.99698	0.95246	0.63981	D	AEFDBI	0.435936	0.49637	N	0.582750483736952	0.72098	5.752601	0.553581319529693	0.71645	5.686774	0.999999931250389	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.96	5.09	0.68647	3.088000	0.49873	4.076000	0.41702	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.978000	0.57271	0.1292:0.7359:0.0:0.1348	8.053	0.29749	755	0.51144	RecF/RecN/SMC, N-terminal|SMCs flexible hinge|SMCs flexible hinge;RecF/RecN/SMC, N-terminal|SMCs flexible hinge|SMCs flexible hinge;.;RecF/RecN/SMC, N-terminal|SMCs flexible hinge|SMCs flexible hinge	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1537.33	40	chr3	160423518	.	C	T	1537.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.38;DP=806;ExcessHet=0;FS=1.6;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.73;ReadPosRankSum=-0.378;SOR=0.945	GT:AD:DP:GQ:PL	0/1:56,56:112:99:1551,0,1468	18	0	1	0
chr3	167790410	167790410	G	A	exonic	SERPINI1	.	nonsynonymous SNV	SERPINI1:NM_001122752:exon3:c.G289A:p.V97I,SERPINI1:NM_005025:exon3:c.G289A:p.V97I	Encephalopathy, familial, with neuroserpin inclusion bodies, Autosomal dominant	3	1479	38	2	0	42	0.014	.	.	.	293333	SERPINI1-related_disorder|Familial_encephalopathy_with_neuroserpin_inclusion_bodies|not_provided	.|MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218,Orphanet:85110|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.128	0.0328983958797	0.0045	0.00219649	0.0047	0.0004	0.0028	0	0.0009	0.0060	0.0088	0.0070	0.0046571	720	154602	rs61750375	0.0052	0.0052	0.0050	0.0054	0.0113	0.0051	0.0051	0.0091	0.0083	0.0009	0.0035	0.0067	2.521e-05	0.0010	0.0113	0.0054	0.0060	0.0082	0.0036	0.0036	0.0039	0.0033	0.0060	0.0033	0.0032	0.0051	0.0050	0.0007	0.0044	0.0037	0.0075	0	0.0008	0.0102	0.0056	0.0047	0.0060	1.0	0.00964	T	1.0	0.06033	T	0.0	0.02946	B	0.0	0.01387	B	0.072584	0.21399	N	0.510004	0.997854	0.22475	N	-0.96	0.01244	N	-1.76	0.83578	D	0.72	0.02442	N	0.118	0.10769	-0.8820	0.49601	T	0.118	0.41538	T	10	0.003496945	0.00062	T	0.032898	0.54598	D	0.128	0.35103	.	.	0.349806870941	0.34587	0.12769553884308935	0.12695	0.0739654645064	0.08289	0.265640407801	0.05581	T	0.066618	0.41999	T	-0.418963	0.01736	T	-0.370023	0.36887	T	0.000506542078013656	0.00004	T	0.513049	0.16451	T	0.0813746	0.18693	0.034470256	0.02519	0.099284485	0.23429	0.027892668	0.00977	-3.401	0.15070	T	0.07746155032237506	0.03632	0.101	0.17700	B	.;.;.;.	.;.;.;.	0.245951	0.06257	2.711	0.1125454455996657	0.00164	0.58987	0.30791	D	AEFDHCI	0.196709	0.32367	N	-0.97674131696484	0.09102	0.4294178	-0.769956646674864	0.15233	0.8001048	0.00303427363349803	0.09882	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	5.45	3.38	0.37806	1.259000	0.32559	1.149000	0.24466	-0.154000	0.11915	0.801000	0.29734	0.536000	0.25389	0.361000	0.25909	0.0975:0.1414:0.4717:0.2893	3.431	0.07000	805	0.43675	Serpin domain;Serpin domain|Serpin domain;Serpin domain|Serpin domain;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	0	0	0	0	0	1	0	0.009063	0.000000	0.008152	0.002924	0.000000	0.025862	0.012195	0.015152	0.02632	1642.33	33	chr3	167790410	.	G	A	1642.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.69;DP=760;ExcessHet=0;FS=2.327;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=-2.087;SOR=0.945	GT:AD:DP:GQ:PL	0/1:68,59:127:99:1656,0,1637	18	0	1	0
chr3	171713936	171713936	C	G	exonic	PLD1	.	nonsynonymous SNV	PLD1:NM_001130081:exon9:c.G868C:p.E290Q,PLD1:NM_002662:exon9:c.G868C:p.E290Q	.	433	1080	8	1	0	10	0.00460829	.	.	.	697928	PLD1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.088	0.0356924497802	0.0017	0.000798722	0.0017	0.0002	0.0015	0	0.0002	0.0025	0.0033	0.0008	0.0013066	202	154602	rs142070781	0.0018	0.0018	0.0018	0.0017	0.0031	0.0017	0.0017	0.0020	0.0018	0.0005	0.0017	0.0058	0	7.489e-05	0.0031	0.0019	0.0025	0.0006	0.0013	0.0013	0.0015	0.0012	0.0028	0.0012	0.0011	0.0021	0.0019	0.0004	0.0011	0.0028	0.0049	0	0	0.0034	0.0018	0.0019	0	0.381	0.20154	T	0.495	0.12740	T	0.006	0.13644	B	0.016	0.17743	B	0.000033	0.55875	D	0.157817	0.997629	0.52935	D	1.01	0.25309	L	-0.77	0.73523	T	-0.96	0.25551	N	0.27	0.30574	-0.7288	0.59024	T	0.285	0.65734	T	10	0.009873867	0.00221	T	0.035692	0.56514	D	0.088	0.25558	.	.	0.835297739687	0.83372	0.5479126788619827	0.54717	0.453324414724	0.45024	0.471404582262	0.34874	T	0.136345	0.46866	T	-0.393133	0.02567	T	-0.343343	0.39966	T	0.0173284270596964	0.00473	T	0.854615	0.54143	D	0.15598544	0.35226	0.09822955	0.23411	0.1869148	0.40121	0.10320213	0.24754	-8.698	0.65733	D	0.2395052756741605	0.32440	0.233	0.46562	B	.;.	.;.	4.049233	0.60011	24.2	0.99432230009719491	0.64325	0.96400	0.68952	D	AEFBI	0.914466	0.87786	D	0.0521306820468999	0.44241	2.701725	0.256149342682307	0.52999	3.471247	0.999961239578934	0.48965	0.643511	0.44296	0	0.588066	0.40923	0	0.602189	0.34648	0	0.631631	0.49550	0	.	.	5.36	5.36	0.76624	5.853000	0.69232	7.676000	0.65050	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.221	0.89836	963	0.08280	.;Pleckstrin homology domain|Pleckstrin 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	0	0	1	0	0.003525	0.000000	0.004076	0.000000	0.000000	0.000000	0.003049	0.007576	0.02632	1261.33	35	chr3	171713936	.	C	G	1261.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.28;DP=741;ExcessHet=0;FS=0.729;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.37;ReadPosRankSum=-0.281;SOR=0.776	GT:AD:DP:GQ:PL	0/1:52,50:102:99:1275,0,1172	18	0	1	0
chr3	179240022	179240022	T	C	exonic	KCNMB3	.	nonsynonymous SNV	KCNMB3:NM_001163677:exon4:c.A496G:p.T166A	.	763	722	33	4	0	41	0.0276094	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	.	0.0035	0.00698882	0.0188	0	0.0122	0.0032	0.0006	0.0105	0	0.0389	0.0034088	527	154602	rs184550595	0.0073	0.0071	0.0063	0.0084	0.0414	0.0072	0.0072	0.0402	0.0397	0.0008	0.0041	0.0289	0.0003	0.0011	0.0301	0.0050	0.0094	0.0414	0.0056	0.0056	0.0049	0.0064	0.0441	0.0053	0.0052	0.0393	0.0374	0.0013	0	0.0071	0.0326	0.0004	0.0011	0.0170	0.0047	0.0133	0.0441	0.157	0.23997	T	0.038	0.51421	D	.	.	.	.	.	.	.	.	.	.	0.99799	0.81001	N	.	.	.	2.26	0.17596	T	-0.81	0.22294	N	0.111	0.09772	-1.0142	0.25593	T	0.024	0.10374	T	9	0.0035863519	0.00065	T	.	.	.	0.061	0.17616	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.562205	0.00246	T	-0.551777	0.17155	T	0.012226413319391	0.00197	T	0.29997	0.05606	T	.	.	.	.	.	.	.	.	-3.779	0.20491	T	.	.	0.137	0.29941	B	.	.	1.620727	0.20700	14.87	0.9940360828791398	0.62934	0.83452	0.42568	D	AEFGI	0.206643	0.33289	N	-0.0184429246067715	0.41021	2.446306	0.0663263132403697	0.42868	2.60055	0.677897955158269	0.22446	0.643511	0.44296	0	0.688494	0.66719	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	4.35	4.35	0.51454	3.584000	0.53680	4.174000	0.42293	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.0:0.0:0.0:1.0	11.973	0.52364	809	0.43032	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.019330	0.005376	0.009615	0.009009	0.000000	0.000000	0.018750	0.050000	0.07895	2834.79	30	chr3	179240022	.	T	C	2834.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=2.57;DP=764;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=59.84;MQRankSum=-0.958;QD=15.24;ReadPosRankSum=0.125;SOR=0.676	GT:AD:DP:GQ:PL	0/1:27,24:51:99:717,0,741	16	0	3	0
chr3	179875393	179875393	T	C	exonic	PEX5L	.	nonsynonymous SNV	PEX5L:NM_001349404:exon2:c.A14G:p.K5R,PEX5L:NM_001349401:exon3:c.A14G:p.K5R,PEX5L:NM_001256753:exon4:c.A413G:p.K138R,PEX5L:NM_001349397:exon4:c.A362G:p.K121R,PEX5L:NM_001349398:exon4:c.A323G:p.K108R,PEX5L:NM_001349399:exon4:c.A14G:p.K5R,PEX5L:NM_001349410:exon4:c.A14G:p.K5R,PEX5L:NM_001256751:exon5:c.A518G:p.K173R,PEX5L:NM_001256752:exon5:c.A485G:p.K162R,PEX5L:NM_001256755:exon5:c.A266G:p.K89R,PEX5L:NM_001256756:exon5:c.A14G:p.K5R,PEX5L:NM_001349392:exon5:c.A557G:p.K186R,PEX5L:NM_001349396:exon5:c.A389G:p.K130R,PEX5L:NM_001349406:exon5:c.A14G:p.K5R,PEX5L:NM_001349409:exon5:c.A14G:p.K5R,PEX5L:NM_001256750:exon6:c.A584G:p.K195R,PEX5L:NM_001256754:exon6:c.A461G:p.K154R,PEX5L:NM_001349388:exon6:c.A662G:p.K221R,PEX5L:NM_001349390:exon6:c.A650G:p.K217R,PEX5L:NM_001349391:exon6:c.A560G:p.K187R,PEX5L:NM_001349393:exon6:c.A557G:p.K186R,PEX5L:NM_001349394:exon6:c.A467G:p.K156R,PEX5L:NM_001349395:exon6:c.A461G:p.K154R,PEX5L:NM_001349408:exon6:c.A14G:p.K5R,PEX5L:NM_016559:exon6:c.A590G:p.K197R,PEX5L:NM_001349386:exon7:c.A755G:p.K252R,PEX5L:NM_001349387:exon7:c.A662G:p.K221R,PEX5L:NM_001349389:exon7:c.A656G:p.K219R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.243	0.0495455773261	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1168289704	6.843e-07	6.841e-07	1.362e-06	0	1.16e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.16e-05	6.573e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.159	0.54683	T	0.5	0.17014	T	0.001	0.09854	B	0.001	0.10090	B	0.000131	0.49741	D	0.208224	0.833021	0.34947	D	-0.285	0.03692	N	-2.41	0.88533	D	-0.58	0.62151	N	0.149	0.28028	-0.0705	0.80769	T	0.405	0.75480	T	10	0.17771786	0.32821	T	0.049546	0.63858	D	0.243	0.54921	0.177	0.08379	0.850612038419	0.84917	0.052743420041366534	0.05216	0.332146085643	0.35272	0.558086872101	0.46998	T	0.14757	0.48571	T	-0.0127884	0.49874	T	-0.159292	0.58416	T	0.355630586668074	0.27238	T	0.924308	0.87805	D	0.09883906	0.23318	0.102368966	0.24533	0.09883906	0.23318	0.102368966	0.24533	-2.884	0.13290	T	.	.	0.068	0.15832	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	2.443452	0.31453	18.75	0.98374719373518138	0.40791	0.83854	0.42947	D	AEFI	0.526466	0.54881	D	-0.115640796306405	0.36710	2.125712	0.10890525433459	0.45004	2.771324	0.74846796713477	0.23321	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.88	5.88	0.94564	2.924000	0.48572	5.082000	0.47276	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.971000	0.54645	0.0:0.0:0.1434:0.8566	12.983	0.57974	794	0.45591	.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1316	282.38	45	chr3	179875393	.	T	C	282.38	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-4.704;DP=2013;ExcessHet=1.3;FS=118.802;InbreedingCoeff=-0.1516;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=0.33;ReadPosRankSum=1.7;SOR=10.823	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:99,22:121:41:0|1:179875392_T_C:41,0,3383:179875392	14	0	5	0
chr3	184233337	184233337	C	A	exonic	VWA5B2	.	nonsynonymous SNV	VWA5B2:NM_138345:exon3:c.C470A:p.T157N	.	412	1106	3	1	0	5	0.0022553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.0236403804416	.	0.000199681	0.0022	0.0023	0.0043	0	0	0.0023	0	0.0021	0.0002587	40	154602	rs548730521	0.0010	0.0009	0.0009	0.0010	0.0013	0.0009	0.0009	0.0011	0.0010	0.0004	0.0004	0.0010	0	0.0002	0.0004	0.0011	0.0006	0.0013	0.0008	0.0008	0.0009	0.0008	0.0013	0.0007	0.0007	0.0011	0.0010	0.0004	0	0.0004	0.0020	0	0	0	0.0013	0	0.0010	0.01	0.56456	D	0.005	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	1.61	0.41143	L	0.76	0.49919	T	-2.81	0.59389	D	0.495	0.52829	-0.7119	0.59859	T	0.231	0.59682	T	9	0.01944679	0.00434	T	0.02364	0.46609	T	0.105	0.29889	.	.	0.60213386617	0.59895	0.7777761007718031	0.77727	1.70097506575	0.90296	0.702666819096	0.67530	T	0.002099	0.01509	T	-0.410283	0.01979	T	-0.386747	0.34931	T	0.0176681367121807	0.00499	T	0.749925	0.37107	T	0.3085608	0.53661	0.4765941	0.69674	0.3085608	0.53661	0.4765941	0.69674	-9.645	0.71759	D	.	.	0.401	0.59628	A	.	.	4.387511	0.67679	25.1	0.99151033751765749	0.53820	0.96301	0.68472	D	AEFDBI	0.680506	0.64417	D	0.478173977567875	0.65818	4.870497	0.437437031807813	0.63912	4.634988	0.999974992469125	0.50053	0.59774	0.34471	0	0.59043	0.45803	0	0.596491	0.31596	0	0.530356	0.10902	0	.	.	4.24	4.24	0.49486	2.924000	0.48572	7.632000	0.62779	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.969000	0.54022	0.0:1.0:0.0:0.0	14.522	0.67445	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	.	.	.	.	.	.	.	.	0.02632	1039.33	33	chr3	184233337	.	C	A	1039.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.08;DP=706;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.24;ReadPosRankSum=-1.755;SOR=0.641	GT:AD:DP:GQ:PL	0/1:36,37:73:99:1053,0,902	18	0	1	0
chr3	195519068	195519068	A	G	exonic	PPP1R2	.	nonsynonymous SNV	PPP1R2:NM_001291505:exon4:c.T443C:p.M148T,PPP1R2:NM_001291504:exon5:c.T524C:p.M175T,PPP1R2:NM_006241:exon5:c.T521C:p.M174T,PPP1R2:NM_001316325:exon6:c.T461C:p.M154T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	0.0133850550382	.	.	8.239e-06	0	0	0	0	0	0	6.057e-05	3.84e-05	1	26028	rs758930365	1.394e-06	2.741e-06	0	2.796e-06	2.341e-05	2.3e-07	9e-08	3.89e-06	1.46e-06	0	0	0	0	0	0	0	0	2.341e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.256	0.16793	T	1.0	0.01155	T	0.985	0.61118	D	0.977	0.73820	D	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	2.545	0.74286	M	.	.	.	-1.14	0.29323	N	0.675	0.68255	-0.3584	0.73310	T	0.406	0.75557	T	9	0.33047637	0.50285	T	0.013385	0.32738	T	0.225	0.52323	0.282	0.23801	0.63470690541	0.63171	0.316806076815987	0.31593	.	.	0.631590008736	0.57371	T	0.166075	0.51217	T	0.0330966	0.56136	T	-0.00808859	0.69810	D	0.4387147128582	0.30382	T	0.646635	0.25786	T	0.24516653	0.47472	0.21074143	0.45473	0.24516653	0.47472	0.21074143	0.45472	-3.2	0.12480	T	.	.	0.342	0.56051	A	.;.	.;.	3.000912	0.40094	21.1	0.87394221429255625	0.17196	0.98867	0.87911	D	AEFGBI	0.803324	0.72850	D	0.637927365369088	0.75590	6.33285	0.617386050681991	0.76201	6.447751	0.809762738365655	0.24334	0.706298	0.61202	0	0.724815	0.89359	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.36	5.36	0.76624	7.412000	0.79304	11.032000	0.85074	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.867000	0.41218	1.0:0.0:0.0:0.0	13.590	0.61421	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	.	.	.	.	.	.	.	.	0.1111	150.95	78	chr3	195519068	.	A	G	150.95	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-3.591;DP=1462;ExcessHet=0.7564;FS=117.019;InbreedingCoeff=-0.1348;MLEAC=4;MLEAF=0.111;MQ=56.47;MQRankSum=-1.328;QD=0.37;ReadPosRankSum=0.956;SOR=8.409	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:76,12:88:44:0|1:195519068_A_G:44,0,2580:195519068	14	0	4	1
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04545	822.88	15	chr3	195725633	.	GCC	G	822.88	.	AC=1;AF=0.045;AN=22;BaseQRankSum=-2.949;DP=131;ExcessHet=0;FS=14.988;InbreedingCoeff=-0.0889;MLEAC=2;MLEAF=0.091;MQ=33.14;MQRankSum=3.39;QD=21.1;ReadPosRankSum=2.11;SOR=0.014	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:18,21:39:99:0|1:195725633_GCC_G:831,0,430:195725633	10	0	1	8
chr3	195725634	195725634	C	0	exonic	MUC20	.	.	.	.	1184	322	10	4	2	20	0.0271903	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03846	762.52	15	chr3	195725634	.	C	*	762.52	.	AC=1;AF=0.038;AN=26;DP=248;ExcessHet=0.1773;FS=13.512;InbreedingCoeff=-0.112;MLEAC=2;MLEAF=0.077;MQ=36.88;QD=10.17;SOR=0.019	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:18,21:39:99:0|1:195725633_GCC_G:831,0,430:195725633	12	0	1	6
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04167	206.94	15	chr3	195725636	.	TCAGAGAGCAGCGCCTCTTCCGACGGCCTCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAGCGCCTCTTCCGACGGCCCCCATCCAGTCATCACCCCGTCACGGGC	T	206.94	.	AC=1;AF=0.042;AN=24;BaseQRankSum=-4.07;DP=322;ExcessHet=0;FS=4.945;InbreedingCoeff=0.1072;MLEAC=2;MLEAF=0.083;MQ=35.85;MQRankSum=4.1;QD=5.05;ReadPosRankSum=0.35;SOR=0.2	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:19,22:50:99:0|1:195725633_GCC_G:523,0,5086:195725633	11	0	1	7
chr3	195725660	195725660	G	0	exonic	MUC20	.	.	.	.	1007	500	13	0	2	15	0.0128332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	781.42	21	chr3	195725660	.	G	*	781.42	.	AC=1;AF=0.028;AN=36;DP=457;ExcessHet=0.119;FS=19.155;InbreedingCoeff=-0.0808;MLEAC=1;MLEAF=0.028;MQ=36.09;QD=12.02;SOR=0.07	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:19,9:50:99:0|1:195725633_GCC_G:338,0,480:195725633	17	0	1	1
chr3	195725664	195725664	T	0	exonic	MUC20	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1111.39	29	chr3	195725664	.	T	*	1111.39	.	AC=1;AF=0.167;AN=6;BaseQRankSum=0.337;DP=581;ExcessHet=1.7609;FS=9.149;InbreedingCoeff=0.0852;MLEAC=3;MLEAF=0.5;MQ=36.16;MQRankSum=0.621;QD=11.95;ReadPosRankSum=-0.803;SOR=0.173	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:19,9:50:99:0|1:195725633_GCC_G:338,0,480:195725633	2	0	1	16
chr3	195725683	195725683	G	0	exonic	MUC20	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	616.43	35	chr3	195725683	.	G	*	616.43	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.251;DP=1015;ExcessHet=0.119;FS=12.462;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.026;MQ=38.21;MQRankSum=-1.393;QD=5.66;ReadPosRankSum=6.1;SOR=0.174	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:19,9:50:99:0|1:195725633_GCC_G:338,0,480:195725633	18	0	1	0
chr3	195725686	195725686	A	0	exonic	MUC20	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04167	601.68	35	chr3	195725686	.	A	*	601.68	.	AC=1;AF=0.042;AN=24;BaseQRankSum=-3.228;DP=1055;ExcessHet=0.1336;FS=14.301;InbreedingCoeff=-0.0577;MLEAC=1;MLEAF=0.042;MQ=38.33;MQRankSum=-1.555;QD=4.89;ReadPosRankSum=5.76;SOR=0.161	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:19,9:50:99:0|1:195725633_GCC_G:338,0,480:195725633	11	0	1	7
chr3	195779400	195779400	A	0	exonic	MUC4	.	.	.	.	692	592	97	123	18	361	0.224623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4688	1683.63	189	chr3	195779400	.	A	*	1683.63	.	AC=15;AF=0.469;AN=32;BaseQRankSum=-3.547;DP=3282;ExcessHet=0.2319;FS=1.813;InbreedingCoeff=0.242;MLEAC=17;MLEAF=0.531;MQ=55.64;MQRankSum=-11.35;QD=0.78;ReadPosRankSum=3.35;SOR=0.697	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:337,171:508:99:0|1:195779399_GACCTGTGGATAATGAGGAAGCATTGGTGACAGGAAGAGGGGTGGTGTC_G:6099,0,13374:195779399	7	6	3	3
chr3	195779404	195779404	G	0	exonic	MUC4	.	.	.	.	476	823	94	122	7	345	0.170363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3889	3477.33	189	chr3	195779404	.	G	*	3477.33	.	AC=14;AF=0.389;AN=36;DP=3242;ExcessHet=0;FS=0.638;InbreedingCoeff=0.74;MLEAC=15;MLEAF=0.417;MQ=49.57;QD=2;SOR=0.704	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:337,171:508:99:0|1:195779399_GACCTGTGGATAATGAGGAAGCATTGGTGACAGGAAGAGGGGTGGTGTC_G:6099,0,13374:195779399	10	6	2	1
chr3	195779410	195779410	A	0	exonic	MUC4	.	.	.	.	5	164	3	1	53	58	0.015015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3889	3370.6	189	chr3	195779410	.	A	*	3370.6	.	AC=14;AF=0.389;AN=36;BaseQRankSum=-0.792;DP=3196;ExcessHet=0;FS=0.65;InbreedingCoeff=0.74;MLEAC=15;MLEAF=0.417;MQ=53.6;MQRankSum=1.33;QD=1.95;ReadPosRankSum=1.73;SOR=0.694	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:337,171:508:99:0|1:195779399_GACCTGTGGATAATGAGGAAGCATTGGTGACAGGAAGAGGGGTGGTGTC_G:6099,0,13374:195779399	10	6	2	1
chr3	195779411	195779411	A	0	exonic	MUC4	.	.	.	.	505	777	88	120	32	360	0.174283	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3889	3370.6	189	chr3	195779411	.	A	*	3370.6	.	AC=14;AF=0.389;AN=36;BaseQRankSum=-0.366;DP=3193;ExcessHet=0;FS=0.65;InbreedingCoeff=0.74;MLEAC=15;MLEAF=0.417;MQ=53.56;MQRankSum=1.33;QD=1.95;ReadPosRankSum=1.73;SOR=0.694	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:337,171:508:99:0|1:195779399_GACCTGTGGATAATGAGGAAGCATTGGTGACAGGAAGAGGGGTGGTGTC_G:6099,0,13374:195779399	10	6	2	1
chr3	195779418	195779418	A	0	exonic	MUC4	.	.	.	.	494	812	89	120	7	336	0.168459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3529	3192.38	189	chr3	195779418	.	A	*	3192.38	.	AC=12;AF=0.353;AN=34;DP=3161;ExcessHet=0.0001;FS=0.615;InbreedingCoeff=0.6915;MLEAC=13;MLEAF=0.382;MQ=49.83;QD=2.08;SOR=0.674	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:337,171:508:99:0|1:195779399_GACCTGTGGATAATGAGGAAGCATTGGTGACAGGAAGAGGGGTGGTGTC_G:6099,0,13374:195779399	10	5	2	2
chr3	195779420	195779422	CAT	0	exonic	MUC4	.	.	.	.	7	164	1	0	54	55	0.00303951	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4118	3190.95	189	chr3	195779420	.	CAT	*	3190.95	.	AC=14;AF=0.412;AN=34;DP=3185;ExcessHet=0;FS=0.65;InbreedingCoeff=0.7185;MLEAC=15;MLEAF=0.441;MQ=49.83;QD=1.85;SOR=0.696	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:337,171:508:99:0|1:195779399_GACCTGTGGATAATGAGGAAGCATTGGTGACAGGAAGAGGGGTGGTGTC_G:6099,0,13374:195779399	9	6	2	2
chr3	195779431	195779431	G	0	exonic	MUC4	.	.	.	.	490	812	89	120	11	340	0.168459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	3191.99	189	chr3	195779431	.	G	*	3191.99	.	AC=12;AF=0.333;AN=36;DP=3005;ExcessHet=0;FS=0.615;InbreedingCoeff=0.7221;MLEAC=13;MLEAF=0.361;MQ=49.83;QD=2.08;SOR=0.674	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:337,171:508:99:0|1:195779399_GACCTGTGGATAATGAGGAAGCATTGGTGACAGGAAGAGGGGTGGTGTC_G:6099,0,13374:195779399	11	5	2	1
chr3	195779432	195779432	G	0	exonic	MUC4	.	.	.	.	488	764	33	32	205	302	0.0596923	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3529	6862.64	189	chr3	195779432	.	G	*	6862.64	.	AC=12;AF=0.353;AN=34;BaseQRankSum=1.82;DP=3050;ExcessHet=0.0001;FS=2.447;InbreedingCoeff=0.6915;MLEAC=13;MLEAF=0.382;MQ=58.49;MQRankSum=8.1;QD=4.01;ReadPosRankSum=-0.688;SOR=0.645	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:255,262:519:99:1|0:195779399_GACCTGTGGATAATGAGGAAGCATTGGTGACAGGAAGAGGGGTGGTGTC_G:6477,0,10422:195779399	10	5	2	2
chr3	195779612	195779612	T	0	exonic	MUC4	.	.	.	.	599	673	33	49	168	299	0.0886933	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3889	9936.45	223	chr3	195779612	.	T	*	9936.45	.	AC=14;AF=0.389;AN=36;BaseQRankSum=2.06;DP=3149;ExcessHet=0;FS=0.615;InbreedingCoeff=0.7301;MLEAC=14;MLEAF=0.389;MQ=56.36;MQRankSum=3.81;QD=3.83;ReadPosRankSum=-0.184;SOR=0.679	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:481,193:674:99:0|1:195779564_T_G:6254,0,19113:195779564	10	6	2	1
chr3	195779614	195779614	T	0	exonic	MUC4	.	.	.	.	600	676	33	49	164	295	0.0883345	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3889	9937.47	223	chr3	195779614	.	T	*	9937.47	.	AC=14;AF=0.389;AN=36;BaseQRankSum=2.18;DP=3131;ExcessHet=0;FS=0.615;InbreedingCoeff=0.7271;MLEAC=15;MLEAF=0.417;MQ=56.23;MQRankSum=3.81;QD=3.83;ReadPosRankSum=0.136;SOR=0.679	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:481,193:674:99:0|1:195779564_T_G:6254,0,19113:195779564	10	6	2	1
chr3	195779615	195779615	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3889	9912.43	223	chr3	195779615	.	C	*	9912.43	.	AC=14;AF=0.389;AN=36;BaseQRankSum=2.27;DP=3131;ExcessHet=0;FS=0.615;InbreedingCoeff=0.7287;MLEAC=15;MLEAF=0.417;MQ=56.26;MQRankSum=3.86;QD=3.83;ReadPosRankSum=0.318;SOR=0.675	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:481,193:674:99:0|1:195779564_T_G:6254,0,19113:195779564	10	6	2	1
chr3	195779623	195779623	G	0	exonic	MUC4	.	.	.	.	548	729	34	47	164	292	0.0807062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	9823.81	223	chr3	195779623	.	G	*	9823.81	.	AC=14;AF=0.368;AN=38;BaseQRankSum=1.2;DP=3131;ExcessHet=0;FS=1.316;InbreedingCoeff=0.7693;MLEAC=14;MLEAF=0.368;MQ=56.3;MQRankSum=3.87;QD=3.77;ReadPosRankSum=1.05;SOR=0.678	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:481,193:674:99:0|1:195779564_T_G:6254,0,19113:195779564	11	6	2	0
chr3	195779628	195779628	G	0	exonic	MUC4	.	.	.	.	61	94	11	17	43	88	0.193133	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5385	10317.3	223	chr3	195779628	.	G	*	10317.3	.	AC=14;AF=0.538;AN=26;BaseQRankSum=1.35;DP=2933;ExcessHet=0.002;FS=0.723;InbreedingCoeff=0.5476;MLEAC=19;MLEAF=0.731;MQ=56.44;MQRankSum=0.448;QD=4.3;ReadPosRankSum=-1.193;SOR=0.657	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:272,191:472:99:.:.:6741,0,11431:.	5	6	2	6
chr3	195779658	195779658	A	0	exonic	MUC4	.	.	.	.	544	791	3	17	167	204	0.0228536	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	2457.99	223	chr3	195779658	.	A	*	2457.99	.	AC=14;AF=0.368;AN=38;BaseQRankSum=1.12;DP=2993;ExcessHet=0;FS=0.688;InbreedingCoeff=0.7788;MLEAC=14;MLEAF=0.368;MQ=55.73;MQRankSum=0.326;QD=1.1;ReadPosRankSum=-0.172;SOR=0.67	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:282,191:475:99:0|1:195779658_A_*:6756,0,11351:195779658	11	6	2	0
chr3	195779659	195779663	CGGCT	0	exonic	MUC4	.	.	.	.	825	508	5	15	169	204	0.0333016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5769	2306.53	112	chr3	195779659	.	CGGCT	*	2306.53	.	AC=15;AF=0.577;AN=26;BaseQRankSum=2.14;DP=2891;ExcessHet=0;FS=0.744;InbreedingCoeff=0.6696;MLEAC=20;MLEAF=0.769;MQ=53.89;MQRankSum=1.62;QD=1.11;ReadPosRankSum=0.401;SOR=0.643	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:258,191:455:99:.:.:6747,0,11420:.	5	7	1	6
chr3	195779882	195779882	G	0	exonic	MUC4	.	.	.	.	827	38	93	396	168	1053	0.920916	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5385	59846.4	195	chr3	195779882	.	G	*	59846.4	.	AC=14;AF=0.538;AN=26;BaseQRankSum=0.967;DP=4496;ExcessHet=0;FS=0;InbreedingCoeff=0.4742;MLEAC=18;MLEAF=0.692;MQ=59.04;MQRankSum=-0.232;QD=18.15;ReadPosRankSum=-0.056;SOR=0.438	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,157:419:99:.:.:14259,8338,10505:.	5	6	2	6
chr3	195780215	195780215	C	0	exonic	MUC4	.	.	.	.	2	157	43	0	24	67	0.120448	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	820.79	19	chr3	195780215	.	C	*	820.79	.	AC=4;AF=0.167;AN=24;BaseQRankSum=-0.755;DP=8489;ExcessHet=2.1469;FS=13.715;InbreedingCoeff=-0.2667;MLEAC=5;MLEAF=0.208;MQ=55.03;MQRankSum=-8.258;QD=0.49;ReadPosRankSum=0.181;SOR=1.971	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:326,58:384:99:0|1:195780165_C_G:1454,0,13404:195780165	8	0	4	7
chr3	195782507	195782507	G	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	6615.26	804	chr3	195782507	.	G	*	6615.26	.	AC=7;AF=0.184;AN=38;BaseQRankSum=0.789;DP=8144;ExcessHet=0.1204;FS=0;InbreedingCoeff=0.272;MLEAC=7;MLEAF=0.184;MQ=55.73;MQRankSum=-6.257;QD=2.61;ReadPosRankSum=1.98;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:310,204:514:99:0|1:195782475_GGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCT_G:7101,0,11910:195782475	14	2	3	0
chr3	195783271	195783271	G	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C8309A:p.P2770H	.	420	1087	7	1	7	16	0.00412277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	.	.	0.0319489	0.0018	0.0005	0	0	0	0.0005	0	0.0048	0.0061472	160	26028	rs879938832	0.0002	0.0011	0.0002	0.0002	0.0016	0.0002	0.0002	0.0014	0.0013	0.0005	0.0002	8.396e-05	0	6.373e-05	0	0.0001	0.0002	0.0016	0.0006	0.0022	0.0006	0.0005	0.0057	0.0004	0.0004	0.0039	0.0033	0.0009	0	0.0004	0	0.0002	0.0004	0	0.0001	0	0.0057	0.239	0.17761	T	0.006	0.70582	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.19	0.41392	T	-0.27	0.17210	N	0.1	0.08227	-1.0551	0.13013	T	0.036	0.15596	T	8	0.004978657	0.00107	T	.	.	.	0.041	0.10877	.	.	0.0297737177859	0.01360	3.386297374527492E-5	0.00003	.	.	0.55265724659	0.46233	T	.	.	.	-0.340036	0.05386	T	-0.726215	0.04501	T	0.0298220855379801	0.01962	T	0.583442	0.21195	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	0.29228	B	.;.	.;.	2.047488	0.26028	16.97	0.8677383761751003	0.16763	0.00574	0.02597	N	AEFBI	0.067239	0.13209	N	-1.0408149609539	0.07769	0.3620234	-1.24139812211855	0.05259	0.2501762	2.38810058409634E-5	0.03498	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	1.02	-2.03	0.06959	-0.304000	0.08238	-0.559000	0.08487	0.221000	0.18078	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2569:0.0:0.4299:0.3132	1.857	0.02988	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	.	.	.	.	.	.	.	.	0.02941	137.14	466	chr3	195783271	.	G	T	137.14	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-2.176;DP=4818;ExcessHet=0;FS=2.342;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.029;MQ=55.89;MQRankSum=-7.256;QD=0.79;ReadPosRankSum=4.39;SOR=0.914	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:159,15:174:99:0|1:195783271_G_T:150,0,6579:195783271	16	0	1	2
chr3	195783354	195783354	A	0	exonic	MUC4	.	.	.	.	502	956	29	30	5	94	0.0444778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08824	537.57	239	chr3	195783354	.	A	*	537.57	.	AC=3;AF=0.088;AN=34;BaseQRankSum=3.27;DP=1975;ExcessHet=0.0113;FS=21.369;InbreedingCoeff=0.3265;MLEAC=3;MLEAF=0.088;MQ=37.44;MQRankSum=2.87;QD=3.79;ReadPosRankSum=-0.834;SOR=2.383	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:23,2:25:15:0|1:195783271_G_T:15,0,959:195783271	15	1	1	2
chr3	195783357	195783357	C	0	exonic	MUC4	.	.	.	.	804	505	66	83	64	296	0.186795	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	4679.71	226	chr3	195783357	.	C	*	4679.71	.	AC=3;AF=0.214;AN=14;BaseQRankSum=2.61;DP=1904;ExcessHet=0.0234;FS=5.732;InbreedingCoeff=0.0733;MLEAC=5;MLEAF=0.357;MQ=47.81;MQRankSum=-0.674;QD=18.64;ReadPosRankSum=-0.967;SOR=1.23	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:3,1:4:43:0|1:195783356_T_*:75,0,120:195783356	5	1	1	12
chr3	195784652	195784652	C	0	exonic	MUC4	.	.	.	.	842	358	133	132	57	454	0.356694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04167	100412.0	440	chr3	195784652	.	C	*	100412.0	.	AC=1;AF=0.042;AN=24;BaseQRankSum=1.63;DP=8111;ExcessHet=0.1263;FS=0.649;InbreedingCoeff=0.3259;MLEAC=1;MLEAF=0.042;MQ=52.85;MQRankSum=-1.375;QD=29.4;ReadPosRankSum=3.28;SOR=0.607	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:295,376:671:99:0|1:195784629_G_*:21350,0,10018:195784629	11	0	1	7
chr3	195784719	195784719	A	0	exonic	MUC4	.	.	.	.	956	119	187	211	49	658	0.719008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1154	173916.0	1112	chr3	195784719	.	A	*	173916.0	.	AC=3;AF=0.115;AN=26;BaseQRankSum=1.87;DP=14491;ExcessHet=0.0379;FS=0;InbreedingCoeff=0.4154;MLEAC=4;MLEAF=0.154;MQ=56.65;MQRankSum=0.291;QD=23.18;ReadPosRankSum=-1.256;SOR=0.671	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:314,934:1249:99:0|1:195784627_GCGTGA_*:21714,0,7877:195784627	11	1	1	6
chr4	973287	973287	C	T	exonic	DGKQ	.	nonsynonymous SNV	DGKQ:NM_001347:exon1:c.G196A:p.V66M	.	396	1122	4	0	0	4	0.00177936	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.831394296602	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1301134628	8.693e-06	1.026e-05	5.751e-06	1.168e-05	0.0002	4.64e-06	3.66e-06	1.031e-05	4.86e-06	0	0	0	0	0	0.0002	6.514e-06	1.774e-05	3.883e-05	6.584e-06	6.567e-06	1.287e-05	0	6.554e-05	0	0	.	.	0	0	6.554e-05	0	0	0	0	0	0	0	0.026	0.46910	D	0.05	0.48080	T	0.999	0.77913	D	0.999	0.92359	D	0.000232	0.47286	U	0.000000	0.999882	0.50402	D	1.975	0.53506	M	1.98	0.21865	T	0.02	0.06739	N	0.264	0.29889	-1.1056	0.03476	T	0.074	0.29802	T	10	0.5548644	0.64460	D	0.831394	0.98693	D	0.114	0.32008	0.337	0.32654	0.223146558224	0.21909	0.3225320178616927	0.32166	0.569347464813	0.53119	0.936134576797	0.99298	D	0.306644	0.67884	T	-0.138838	0.30074	T	-0.437208	0.29121	T	0.836469888687134	0.49041	D	0.955504	0.83071	D	0.12224069	0.28730	0.112119876	0.27051	0.12224069	0.28730	0.112119876	0.27050	-10.577	0.77288	D	.	.	0.847	0.79600	P	.	.	5.093555	0.85075	28.5	0.99817336319022198	0.90061	0.36211	0.25481	N	AEFDBCI	0.237078	0.35942	N	0.0144232460407465	0.42510	2.56277	-0.112336844489406	0.34892	2.012252	0.999999999796079	0.74766	0.652421	0.48094	0	0.748881	0.99253	0	0.606884	0.38211	0	0.71	0.69187	0	.	.	1.96	1.96	0.25203	3.153000	0.50383	.	.	0.498000	0.22619	0.996000	0.39380	1.000000	0.68203	0.942000	0.48361	0.0:1.0:0.0:0.0	9.575	0.38615	759	0.50631	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	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1196.33	33	chr4	973287	.	C	T	1196.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.538;DP=709;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.14;ReadPosRankSum=2.09;SOR=0.704	GT:AD:DP:GQ:PL	0/1:30,49:79:99:1210,0,687	18	0	1	0
chr4	2341540	2341540	C	T	exonic	ZFYVE28	.	nonsynonymous SNV	ZFYVE28:NM_001172658:exon2:c.G115A:p.V39I,ZFYVE28:NM_001172656:exon3:c.G256A:p.V86I,ZFYVE28:NM_001172657:exon3:c.G256A:p.V86I,ZFYVE28:NM_001172659:exon3:c.G46A:p.V16I,ZFYVE28:NM_001172660:exon3:c.G46A:p.V16I,ZFYVE28:NM_020972:exon3:c.G256A:p.V86I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.0369551594526	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1006471990	3.421e-06	4.104e-06	2.723e-06	4.125e-06	3.597e-06	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.597e-06	1.656e-05	0	1.314e-05	1.313e-05	0	2.69e-05	2.413e-05	2.18e-06	8.2e-07	.	.	2.413e-05	0	0	0	0	9.411e-05	0	0	0	0	0.039	0.44358	D	0.034	0.55759	D	0.977	0.90584	D	0.248	0.83170	B	0.000007	0.62929	D	0.063976	0.999999	0.81001	D	0.755	0.19153	N	1.53	0.30401	T	-0.83	0.26200	N	0.403	0.47580	-0.8956	0.48427	T	0.169	0.50923	T	10	0.34167823	0.51213	T	0.036955	0.57318	D	0.088	0.25558	0.191	0.10171	0.293707238958	0.28979	0.6185196093884633	0.61784	0.699085228208	0.61004	0.646298408508	0.59459	T	0.040903	0.25682	T	-0.135341	0.30636	T	-0.432184	0.29688	T	0.952526330947876	0.63812	D	0.916108	0.78180	D	0.17117006	0.37735	0.15316796	0.36005	0.17117006	0.37735	0.15316796	0.36004	-12.434	0.87137	D	.	.	0.138	0.36752	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.038269	0.59763	24.1	0.99854563431707766	0.93368	0.97284	0.73788	D	AEFDBI	0.789965	0.71900	D	0.469986495429711	0.65345	4.81088	0.471763770399328	0.66124	4.911646	0.999986190651109	0.51787	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.77	4.77	0.60425	7.019000	0.76152	7.325000	0.58180	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.223000	0.22544	0.0:1.0:0.0:0.0	16.797	0.85467	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	.	.	.	.	.	.	.	.	0.02632	1457.33	37	chr4	2341540	.	C	T	1457.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.712;DP=984;ExcessHet=0;FS=5.439;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.75;ReadPosRankSum=-0.835;SOR=1.031	GT:AD:DP:GQ:PL	0/1:64,60:124:99:1471,0,1527	18	0	1	0
chr4	3074927	3074927	G	0	exonic	HTT	.	.	.	Huntington disease, Autosomal dominant	4	1369	54	4	91	153	0.0221429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	153.78	40	chr4	3074927	.	G	*	153.78	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-0.204;DP=935;ExcessHet=2.0135;FS=2.431;InbreedingCoeff=-0.1875;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=0.73;ReadPosRankSum=2.19;SOR=0.884	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:10,11:21:99:.:.:384,0,975:.	14	0	5	0
chr4	3493340	3493340	C	T	exonic	DOK7	.	nonsynonymous SNV	DOK7:NM_001256896:exon4:c.C424T:p.R142W,DOK7:NM_001363811:exon5:c.C922T:p.R308W,DOK7:NM_001301071:exon7:c.C1354T:p.R452W,DOK7:NM_173660:exon7:c.C1354T:p.R452W	Myasthenic syndrome, congenital, 10, Autosomal recessive	1	1515	6	0	0	6	0.00197628	.	.	YES	632188	Fetal_akinesia_deformation_sequence_1|Congenital_myasthenic_syndrome_10|not_provided	Human_Phenotype_Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150,Orphanet:994|MONDO:MONDO:0009690,MedGen:C1850792,OMIM:254300,Orphanet:590|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.133	0.233511665094	0.0002	.	0.0001	0.0002	0.0008	0	0	7.684e-05	0	0	7.76e-05	12	154602	rs375116985	8.364e-05	9.03e-05	8.786e-05	7.937e-05	0.0002	7.143e-05	6.688e-05	0.0001	8.743e-05	0.0002	0.0001	0	0	0	0.0002	8.597e-05	8.383e-05	8.266e-05	8.541e-05	8.536e-05	0.0001	5.38e-05	0.0001	4.957e-05	3.962e-05	6.805e-05	5.088e-05	7.237e-05	0	6.539e-05	0	0	0	0	0.0001	0	0	0.007	0.59928	D	0.022	0.57587	D	0.002	0.09854	B	0.001	0.04355	B	0.370568	0.13533	N	0.674688	1	0.08975	N	1.79	0.46772	L	-0.13	0.64818	T	-3.6	0.69357	D	0.142	0.14196	-0.6431	0.63013	T	0.352	0.71565	T	10	0.17367715	0.32208	T	0.233512	0.88369	D	0.133	0.36157	.	.	0.773320394583	0.77123	0.12855388742118734	0.12780	0.00905380675831	0.00821	0.591368019581	0.51687	T	0.393984	0.75325	T	-0.279053	0.10767	T	-0.342424	0.40069	T	0.063846671388467	0.07759	T	0.842116	0.51841	T	0.21684991	0.44154	0.2512694	0.50735	0.21684991	0.44154	0.2512694	0.50734	-4.921	0.35970	T	0.2585330040984541	0.34931	0.092	0.20430	B	.;.;.	.;.;.	2.996005	0.40013	21.1	0.99844581372689911	0.92489	0.31135	0.24261	N	AEFDBCI	0.303245	0.41127	N	-0.139856458214225	0.35667	2.051648	-0.172561654767833	0.32550	1.852982	0.999990208842702	0.74766	0.59774	0.34471	0	0.547309	0.14657	0	0.596491	0.31596	0	0.562822	0.20929	0	.	.	4.29	3.37	0.37692	0.690000	0.25132	1.860000	0.29316	0.596000	0.33519	0.001000	0.13787	0.004000	0.18990	0.020000	0.11549	0.0:0.8326:0.1674:0.0	12.636	0.56043	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	.	.	.	.	.	.	.	.	0.02632	1283.33	59	chr4	3493340	.	C	T	1283.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.61;DP=839;ExcessHet=0;FS=2.821;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.58;ReadPosRankSum=0.188;SOR=0.928	GT:AD:DP:GQ:PL	0/1:44,44:88:99:1297,0,1136	18	0	1	0
chr4	5576374	5576374	G	C	exonic	EVC2	.	nonsynonymous SNV	EVC2:NM_001166136:exon18:c.C2898G:p.S966R,EVC2:NM_147127:exon18:c.C3138G:p.S1046R	Ellis-van Creveld syndrome, Autosomal recessive;Weyers acrofacial dysostosis, Autosomal dominant	3	1507	9	3	0	15	0.00495213	.	.	YES	293721	Ellis-van_Creveld_syndrome|not_specified|not_provided|Curry-Hall_syndrome	MONDO:MONDO:0009162,MedGen:C0013903,OMIM:225500,Orphanet:289|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008673,MedGen:C0457013,OMIM:193530,Orphanet:952	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.184	.	0.0096	0.00758786	0.0038	0.0286	0.0029	0	0	0.0018	0.0011	0.0006	0.0034346	531	154602	rs73074138	0.0017	0.0017	0.0017	0.0016	0.0246	0.0016	0.0016	0.0232	0.0226	0.0246	0.0053	0.0054	0	5.621e-05	0.0225	0.0008	0.0037	0.0005	0.0080	0.0080	0.0080	0.0080	0.0234	0.0076	0.0075	0.0222	0.0217	0.0234	0	0.0091	0.0040	0	0	0.0306	0.0010	0.0066	0.0004	0.028	0.46129	D	0.011	0.64786	D	0.868	0.47740	P	0.383	0.43945	B	0.019057	0.27344	N	0.380247	1	0.08975	N	2.56	0.74772	M	-0.93	0.75215	T	-1.33	0.34992	N	0.366	0.40765	-0.9114	0.46682	T	0.108	0.39246	T	10	0.0066734254	0.00151	T	.	.	.	0.184	0.45763	0.254	0.19378	0.724018906263	0.72158	0.1543506842950964	0.15356	0.131878474572	0.14862	0.358229696751	0.19127	T	0.053301	0.29406	T	-0.456421	0.01034	T	-0.408121	0.32442	T	0.0475434294205966	0.05062	T	0.736726	0.35329	T	0.12640536	0.29608	0.12154893	0.29326	0.13297808	0.30946	0.096674144	0.22980	-2.975	0.09914	T	.	.	0.196	0.44397	B	.;.	.;.	1.826318	0.23208	15.93	0.99730011272474239	0.82690	0.06278	0.12271	N	AEFDBI	0.095994	0.19386	N	-0.557501546390611	0.20250	1.066071	-0.643842782117504	0.18372	0.9811565	6.56922854957636E-4	0.07551	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.491896	0.07777	0	.	.	5.38	-0.219	0.12488	-0.426000	0.07076	-0.449000	0.09111	0.618000	0.50648	0.000000	0.06391	0.000000	0.08366	0.941000	0.48210	0.2348:0.1461:0.6191:0.0	6.138	0.19461	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	1	0	0.021652	0.045455	0.035326	0.023392	0.000000	0.034483	0.006098	0.000000	0.02632	799.33	34	chr4	5576374	.	G	C	799.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.48;DP=742;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.08;ReadPosRankSum=0.883;SOR=0.624	GT:AD:DP:GQ:PL	0/1:57,31:88:99:813,0,1519	18	0	1	0
chr4	5628715	5628715	A	G	exonic	EVC2	.	nonsynonymous SNV	EVC2:NM_001166136:exon12:c.T1490C:p.M497T,EVC2:NM_147127:exon12:c.T1730C:p.M577T	Ellis-van Creveld syndrome, Autosomal recessive;Weyers acrofacial dysostosis, Autosomal dominant	1	1506	12	3	0	18	0.00594059	.	.	.	295120	Ellis-van_Creveld_syndrome|Curry-Hall_syndrome|not_specified|not_provided	MONDO:MONDO:0009162,MedGen:C0013903,OMIM:225500,Orphanet:289|MONDO:MONDO:0008673,MedGen:C0457013,OMIM:193530,Orphanet:952|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.656	.	0.0057	0.00599042	0.0023	0.0152	0.0022	0	0	0.0012	0.0011	0.0004	0.0021798	337	154602	rs113869406	0.0013	0.0013	0.0013	0.0013	0.0226	0.0013	0.0013	0.0194	0.0182	0.0164	0.0037	0.0047	0	5.626e-05	0.0226	0.0007	0.0030	0.0003	0.0053	0.0053	0.0052	0.0054	0.0155	0.0050	0.0049	0.0145	0.0141	0.0155	0	0.0055	0.0040	0	0	0.0240	0.0007	0.0063	0.0008	0.002	0.72154	D	0.017	0.60337	D	0.999	0.77913	D	0.977	0.73820	D	0.000116	0.50451	D	0.142673	0.984555	0.40161	D	2.505	0.72935	M	-1.46	0.80983	T	-3.37	0.68532	D	0.858	0.85449	0.086	0.83911	D	0.454	0.78714	T	10	0.010639936	0.00236	T	.	.	.	0.656	0.87085	.	.	0.840034301016	0.83851	0.3783347696063244	0.37748	0.152517565218	0.17208	0.683719336987	0.64803	T	0.746757	0.93028	D	-0.0670031	0.41805	T	0.143952	0.79801	D	0.0237359276258657	0.01112	T	0.618038	0.24270	T	0.5912612	0.72219	0.68935335	0.81724	0.58076334	0.71651	0.70680547	0.82714	-3.999	0.23789	T	.	.	0.189	0.43448	B	.;.	.;.	3.972208	0.58338	24.0	0.9913075972715637	0.53249	0.94014	0.59854	D	AEFBI	0.557058	0.56684	D	0.610738995802271	0.73852	6.034449	0.576127230319168	0.73233	5.936959	0.999974668323365	0.50053	0.562547	0.31514	0	0.588066	0.40923	0	0.670488	0.60580	0	0.635551	0.53088	0	.	.	4.89	4.89	0.63387	4.949000	0.63298	5.764000	0.49701	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	1.0:0.0:0.0:0.0	14.000	0.63940	929	0.16858	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.021652	0.050505	0.029891	0.032164	0.000000	0.034483	0.006098	0.000000	0.02632	2610.33	36	chr4	5628715	.	A	G	2610.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.465;DP=861;ExcessHet=0;FS=2.669;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.8;ReadPosRankSum=0.763;SOR=0.947	GT:AD:DP:GQ:PL	0/1:102,102:204:99:2624,0,2605	18	0	1	0
chr4	6862306	6862306	T	C	exonic	KIAA0232	.	nonsynonymous SNV	KIAA0232:NM_001100590:exon6:c.T1924C:p.S642P,KIAA0232:NM_014743:exon7:c.T1924C:p.S642P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.00517274981781	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1049661710	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.005	0.63226	D	0.024	0.56640	D	0.01	0.15535	B	0.01	0.14941	B	0.002610	0.36243	N	0.335799	0.997385	0.43845	D	1.845	0.48678	L	.	.	.	-1.21	0.30762	N	0.255	0.28849	-0.8699	0.50537	T	0.178	0.52350	T	9	0.10915744	0.20352	T	0.005173	0.13156	T	0.057	0.16321	0.471	0.54537	0.0675242888579	0.06100	0.46100661359438516	0.46018	0.236252140533	0.26164	0.507156848907	0.39825	T	0.032907	0.22691	T	-0.0647136	0.42169	T	-0.330733	0.41388	T	0.740678250789642	0.42773	D	0.785921	0.42389	T	0.33447877	0.55835	0.22762217	0.47778	0.33447877	0.55835	0.22762217	0.47777	-4.395	0.29489	T	.	.	0.096	0.18950	B	.;.	.;.	2.849310	0.37614	20.5	0.99790826753695638	0.87661	0.97746	0.76833	D	AEFBI	0.619401	0.60485	D	-0.157216252661344	0.34928	1.999906	-0.0453646344165534	0.37692	2.210343	0.99990703318278	0.45458	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.73	1.7	0.23359	2.683000	0.46609	0.685000	0.20714	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0737:0.2877:0.6386	6.857	0.23230	682	0.59757	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4737	6195.3	135	chr4	6862306	.	T	C	6195.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-3.635;DP=2656;ExcessHet=38.2876;FS=246.725;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=2.43;ReadPosRankSum=1.38;SOR=13.192	GT:AD:DP:GQ:PL	0/1:108,48:156:99:433,0,2681	1	0	18	0
chr4	9259402	9259402	A	G	exonic	USP17L11;USP17L20;USP17L22	.	nonsynonymous SNV	USP17L11:NM_001256854:exon1:c.A1279G:p.R427G,USP17L20:NM_001256861:exon1:c.A1279G:p.R427G,USP17L22:NM_001256863:exon1:c.A1279G:p.R427G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.688740902271	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.889e-05	4.771e-06	0	3.472e-05	0.0001	0	0	.	.	0	0	0	0	0	0	0	0	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.30235	T	0.069	0.45744	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.55	0.14455	N	0.99	0.41750	T	-1.11	0.28703	N	0.095	0.08646	-1.0224	0.22932	T	0.067	0.27502	T	6	0.16836247	0.31384	T	0.688741	0.97434	D	0.010	0.01040	0.448	0.50793	0.333906830038	0.33007	0.01921742350940877	0.01875	.	.	0.475211530924	0.35398	T	0.02256	0.17371	T	-0.27113	0.11630	T	-0.627236	0.10625	T	0.153695898384988	0.17394	T	0.668433	0.29438	T	0.12742832	0.29819	0.13362601	0.32039	0.12742832	0.29819	0.13362601	0.32038	-3.994	0.23714	T	.	.	0.074	0.05188	B	.;.	.;.	2.194266	0.27977	17.64	0.94069291663749144	0.24211	0.00063	0.00458	N	AEFI	0.037163	0.05067	N	-0.988351768918384	0.08852	0.4166448	-1.2209657003042	0.05574	0.2659581	1.8242228376226E-6	0.01202	0.638212	0.43195	0	0.670034	0.63936	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.36	-0.72	0.10631	-0.786000	0.04729	.	.	0.327000	0.19478	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.125	47.16	.	chr4	9259402	.	A	G	47.16	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-1.746;DP=40;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.375;MQ=20;MQRankSum=0;QD=2.77;ReadPosRankSum=-0.681;SOR=0.12	GT:AD:DP:GQ:PL	0/1:13,4:17:48:48,0,256	3	0	1	15
chr4	10445703	10445703	G	A	exonic	ZNF518B	.	nonsynonymous SNV	ZNF518B:NM_001375817:exon2:c.C626T:p.T209M,ZNF518B:NM_001375816:exon3:c.C626T:p.T209M,ZNF518B:NM_053042:exon3:c.C626T:p.T209M	.	423	1095	3	1	0	5	0.0022779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.0156156855304	0.0002	0.000199681	0.0004	9.621e-05	0	0.0001	0	0.0005	0.0022	0.0005	0.0003428	53	154602	rs199541568	0.0003	0.0003	0.0003	0.0003	0.0016	0.0003	0.0003	0.0008	0.0006	8.961e-05	6.708e-05	0.0016	0.0005	3.744e-05	0.0016	0.0003	0.0004	0.0004	0.0003	0.0003	0.0003	0.0002	0.0004	0.0002	0.0002	0.0003	0.0002	9.638e-05	0	6.534e-05	0.0009	0	0	0.0068	0.0004	0.0005	0.0004	0.227	0.18498	T	0.107	0.37730	T	0.986	0.61523	D	0.475	0.46927	P	0.015648	0.28189	N	0.279835	1	0.08975	N	0.695	0.17993	N	1.71	0.26737	T	-0.05	0.07736	N	0.205	0.22742	-1.0773	0.07881	T	0.046	0.19879	T	10	0.019787073	0.00446	T	0.015616	0.36454	T	0.071	0.20720	.	.	0.043077524339	0.03247	0.3784980252198869	0.37764	0.0322144936095	0.03353	0.391817837954	0.23926	T	0.002655	0.02045	T	-0.444809	0.01212	T	-0.554748	0.16873	T	0.0283763736170129	0.01742	T	0.787021	0.42574	T	0.02309417	0.01021	0.041110124	0.04597	0.02309417	0.01021	0.041110124	0.04597	-4.614	0.32347	T	.	.	0.220	0.45036	B	.	.	3.232376	0.44089	21.9	0.99696445342407702	0.80316	0.58897	0.30767	D	AEFBCI	0.053381	0.09613	N	0.0562869088914495	0.44433	2.717383	0.127433411504905	0.45957	2.849824	0.618956558797468	0.21868	0.67177	0.52595	0	0.653731	0.59785	0	0.608884	0.39905	0	0.711	0.71501	0	.	.	6.16	4.41	0.52588	2.342000	0.43648	4.321000	0.42998	-0.179000	0.10443	0.983000	0.35670	0.998000	0.33993	0.975000	0.56047	0.118:0.4538:0.4282:0.0	9.821	0.40053	576	0.70006	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	0.002717	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	2659.33	40	chr4	10445703	.	G	A	2659.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=5.38;DP=1239;ExcessHet=0;FS=3.968;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.97;ReadPosRankSum=-0.232;SOR=0.804	GT:AD:DP:GQ:PL	0/1:111,94:205:99:2673,0,2646	18	0	1	0
chr4	25312867	25312867	C	T	exonic	ZCCHC4	.	nonsynonymous SNV	ZCCHC4:NM_001318148:exon1:c.C58T:p.R20W,ZCCHC4:NM_024936:exon1:c.C58T:p.R20W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.0101853819994	8e-05	.	8.288e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs372768133	2.054e-06	2.052e-06	4.087e-06	0	1.799e-06	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.015	0.61642	D	0.83	0.46087	P	0.165	0.35019	B	0.030526	0.01721	N	2.164230	1	0.08975	N	0.345	0.11182	N	1.42	0.33189	T	-0.35	0.12847	N	0.278	0.31478	-1.0329	0.19522	T	0.041	0.17530	T	10	0.08248097	0.13617	T	0.010185	0.26412	T	0.023	0.04649	.	.	0.0611884634855	0.05136	0.2890698638455068	0.28819	0.0917860839018	0.10363	0.360000371933	0.19386	T	0.008516	0.07817	T	-0.3647	0.03871	T	-0.592515	0.13448	T	0.224534541368484	0.21687	T	0.79582	0.43907	T	0.06688657	0.14435	0.055808604	0.09857	0.06688657	0.14435	0.055808604	0.09857	-5.357	0.40504	T	.	.	0.087	0.11317	B	.	.	1.760942	0.22396	15.60	0.99148545832267876	0.53737	0.00003	0.00079	N	ALL	0.086251	0.17487	N	-0.845317150580504	0.12164	0.5913347	-0.956120224458499	0.10781	0.5452288	0.999999999999994	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	5.71	-1.13	0.09274	-0.644000	0.05512	-0.313000	0.10024	-0.222000	0.07959	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2303:0.4541:0.103:0.2126	2.331	0.03976	689	0.59000	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	988.33	33	chr4	25312867	.	C	T	988.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.37;DP=716;ExcessHet=0;FS=8.65;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.98;ReadPosRankSum=0.313;SOR=1.41	GT:AD:DP:GQ:PL	0/1:50,40:90:99:1002,0,1106	18	0	1	0
chr4	42893538	42893538	G	T	exonic	GRXCR1	.	nonsynonymous SNV	GRXCR1:NM_001080476:exon1:c.G272T:p.G91V	Deafness, autosomal recessive 25, Autosomal recessive	0	1472	48	2	0	52	0.0173565	.	.	.	173952	not_provided|Autosomal_recessive_nonsyndromic_hearing_loss_25|GRXCR1-related_disorder|not_specified	MedGen:C3661900|MONDO:MONDO:0013210,MedGen:C1414017,OMIM:613285,Orphanet:90636|.|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.051	0.00790688067224	0.0030	0.00279553	0.0051	0.0006	0.0017	0	0.0047	0.0061	0.0067	0.0087	0.0046118	713	154602	rs113203706	0.0045	0.0045	0.0042	0.0047	0.0109	0.0044	0.0044	0.0088	0.0080	0.0006	0.0028	0.0073	0	0.0043	0.0109	0.0044	0.0060	0.0082	0.0036	0.0036	0.0032	0.0040	0.0081	0.0033	0.0032	0.0061	0.0054	0.0008	0	0.0050	0.0084	0	0.0042	0.0102	0.0045	0.0028	0.0081	0.338	0.12796	T	0.42	0.14116	T	0.0	0.02946	B	0.001	0.04355	B	0.403506	0.13093	U	0.720289	0.999536	0.21028	N	0.895	0.22405	L	1.3	0.35590	T	-0.38	0.13418	N	0.186	0.20262	-1.0024	0.29226	T	0.074	0.30023	T	10	0.0068248212	0.00155	T	0.007907	0.20981	T	0.051	0.14325	.	.	0.21279746466	0.20884	0.7023987737389568	0.70180	0.0404129470778	0.04329	0.296552926302	0.09888	T	0.050399	0.28584	T	-0.606851	0.00132	T	-0.63949	0.09707	T	0.00404222462554798	0.00043	T	0.439856	0.12136	T	0.046149485	0.07674	0.058396593	0.10783	0.046149485	0.07674	0.058396593	0.10783	-2.956	0.09715	T	0.08242776387436643	0.04353	0.078	0.06896	B	.	.	0.665606	0.10342	7.069	0.92353461990523522	0.21755	0.43834	0.27185	N	AEFBI	0.122321	0.23741	N	-0.826282496098781	0.12641	0.6174501	-0.728622397824168	0.16250	0.8587279	1.33142710868807E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.87	1.06	0.19341	1.797000	0.38438	2.110000	0.30654	-0.816000	0.03012	0.965000	0.33920	0.980000	0.30356	0.780000	0.36908	0.0:0.4097:0.3797:0.2106	11.372	0.48947	853	0.34956	.	.	.	.	.	.	Likely benign	0	0	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	0.014602	0.005051	0.010870	0.014620	0.000000	0.025862	0.030488	0.018939	0.02632	2523.33	43	chr4	42893538	.	G	T	2523.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=5.27;DP=877;ExcessHet=0;FS=1.955;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.93;ReadPosRankSum=0.055;SOR=0.551	GT:AD:DP:GQ:PL	0/1:86,83:169:99:2537,0,2234	18	0	1	0
chr4	47643167	47643167	T	A	exonic	CORIN	.	nonsynonymous SNV	CORIN:NM_001278585:exon13:c.A1735T:p.S579C,CORIN:NM_001278586:exon14:c.A1936T:p.S646C,CORIN:NM_006587:exon15:c.A2047T:p.S683C	Preeclampsia/eclampsia 5	0	1483	37	2	0	41	0.0136349	.	.	.	799358	Preeclampsia/eclampsia_5|not_provided	MONDO:MONDO:0013817,MedGen:C3281288,OMIM:614595|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.617	.	0.0024	0.00219649	0.0034	0.0005	0.0009	0.0001	0.0005	0.0027	0.0022	0.0125	0.0032212	498	154602	rs144722161	0.0041	0.0041	0.0039	0.0044	0.0125	0.0040	0.0040	0.0118	0.0116	0.0005	0.0019	0.0008	5.039e-05	0.0005	0.0092	0.0040	0.0042	0.0125	0.0025	0.0025	0.0025	0.0024	0.0098	0.0023	0.0022	0.0075	0.0067	0.0005	0	0.0036	0.0020	0	0.0003	0	0.0034	0.0043	0.0098	0.006	0.63226	D	0.008	0.67890	D	0.999	0.77913	D	0.907	0.64423	P	0.007021	0.31644	N	0.371645	0.658238	0.38702	D	2.15	0.60148	M	-3.74	0.95493	D	-3.18	0.65397	D	0.531	0.57946	1.012	0.97389	D	0.891	0.96372	D	10	0.016170084	0.00340	T	.	.	.	0.617	0.85091	.	.	0.996126483672	0.99608	0.7308779753318358	0.73032	0.328817197517	0.34999	0.361546814442	0.19611	T	0.899451	0.98017	D	-0.183371	0.23234	T	-0.0251445	0.68690	D	0.0260425943509535	0.01412	T	0.837116	0.85735	T	0.14758348	0.33732	0.14285788	0.33971	0.16320157	0.36445	0.13279083	0.31855	-12.92	0.89031	D	.	.	0.239	0.53095	B	.;.;.;.;.;.	.;.;.;.;.;.	3.595535	0.50762	23.0	0.97281230887779913	0.33186	0.85771	0.44941	D	ALL	0.551415	0.56349	D	0.255324982985495	0.53902	3.557323	0.164724902045148	0.47928	3.015752	0.999995407326078	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	6.17	2.6	0.30173	2.896000	0.48355	0.002000	0.13306	-0.120000	0.14102	1.000000	0.71638	0.953000	0.29079	0.065000	0.16320	0.0:0.2528:0.0:0.7472	8.967	0.35042	417	0.81662	Low-density lipoprotein (LDL) receptor class A, conserved site;Low-density lipoprotein (LDL) receptor class A, conserved site;Low-density lipoprotein (LDL) receptor class A, conserved site;Low-density lipoprotein (LDL) receptor class A, conserved site;Low-density lipoprotein (LDL) receptor class A, conserved site;Low-density lipoprotein (LDL) receptor class A, conserved site	.	.	.	.	.	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	0.009567	0.000000	0.010870	0.020468	0.000000	0.000000	0.006098	0.007576	0.02632	2514.33	33	chr4	47643167	.	T	A	2514.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.09;DP=780;ExcessHet=0;FS=1.998;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.62;ReadPosRankSum=1.05;SOR=0.53	GT:AD:DP:GQ:PL	0/1:74,87:161:99:2528,0,1902	18	0	1	0
chr4	68053955	68053955	C	G	exonic	TMPRSS11F	.	nonsynonymous SNV	TMPRSS11F:NM_207407:exon10:c.G1271C:p.R424T	.	439	1076	6	1	0	8	0.0037037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.687	0.144236885818	0.0002	0.000599042	0.0004	0	0.0003	0	0	0.0002	0	0.0016	0.0003169	49	154602	rs200202727	0.0001	0.0001	0.0001	0.0002	0.0012	0.0001	0.0001	0.0010	0.0009	0	8.947e-05	0.0024	2.52e-05	0	0.0003	1.349e-05	0.0003	0.0012	7.223e-05	7.218e-05	5.139e-05	9.401e-05	0.0015	3.969e-05	3.125e-05	0.0007	0.0005	0	0	0	0.0006	0	0	0	1.47e-05	0.0005	0.0015	0.002	0.72154	D	0.006	0.70582	D	0.964	0.55854	D	0.783	0.57419	P	0.000842	0.41440	D	0.106362	0.885204	0.35833	D	3.045	0.86684	M	-3.48	0.94584	D	-5.16	0.83422	D	0.624	0.63883	1.002	0.97223	D	0.867	0.95583	D	10	0.08312583	0.13795	T	0.144237	0.82651	D	0.687	0.88585	.	.	0.914166010888	0.91330	0.7876491475330307	0.78716	0.321257321859	0.34324	0.46925008297	0.34577	T	0.522848	0.83346	D	0.00456421	0.52282	T	0.188228	0.82469	D	0.238330126882022	0.22342	T	0.820318	0.47908	T	0.5055301	0.67418	0.45647022	0.68408	0.5055301	0.67419	0.45647022	0.68408	-10.086	0.74425	D	.	.	0.293	0.52459	B	.	.	2.695859	0.35200	19.84	0.98143339729469281	0.38622	0.80185	0.39890	D	AEFI	0.158146	0.28376	N	0.507767073386747	0.67547	5.096347	0.457546788725571	0.65204	4.794218	6.63632627682788E-5	0.04366	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.79	4.78	0.60666	0.863000	0.27567	.	.	-0.182000	0.10109	0.391000	0.26096	0.014000	0.20376	0.380000	0.26335	0.0:0.909:0.0:0.091	13.005	0.58104	922	0.19044	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	0.001512	0.000000	0.000000	0.000000	0.000000	0.000000	0.012195	0.000000	0.05263	3310.83	42	chr4	68053955	.	C	G	3310.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.168;DP=1001;ExcessHet=0.119;FS=2.609;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.91;ReadPosRankSum=0.425;SOR=0.568	GT:AD:DP:GQ:PL	0/1:56,66:122:99:1592,0,1348	17	0	2	0
chr4	68816366	68816366	G	C	exonic	UGT2B10	.	nonsynonymous SNV	UGT2B10:NM_001075:exon1:c.G347C:p.W116S,UGT2B10:NM_001144767:exon1:c.G347C:p.W116S	.	426	1092	4	0	0	4	0.00182815	.	.	.	2427853	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.077	0.00268002450626	.	.	0.0001	0	0.0003	0	0	0.0002	0.0011	6.061e-05	0.0001488	23	154602	rs749384384	0.0002	0.0002	0.0002	0.0002	0.0052	0.0002	0.0002	0.0038	0.0033	5.986e-05	0.0005	0	0	0	0.0052	0.0002	0.0005	9.279e-05	0.0002	0.0002	0.0001	0.0003	0.0013	0.0002	0.0001	0.0008	0.0007	2.409e-05	0	0.0013	0	0	0	0	0.0001	0.0005	0.0002	0.479	0.10115	T	0.575	0.08654	T	0.001	0.07471	B	0.004	0.10090	B	0.032042	0.01747	U	2.443990	1	0.08975	N	0.695	0.17993	N	0.2	0.60111	T	-3.92	0.83422	D	0.18	0.19459	-1.0399	0.17343	T	0.074	0.29897	T	10	0.036660135	0.01976	T	0.00268	0.05492	T	0.077	0.22490	.	.	0.233150807113	0.22925	0.20326628005497288	0.20243	0.00905380675831	0.00821	0.266165137291	0.05647	T	0.017174	0.14057	T	-0.467196	0.00885	T	-0.561699	0.16218	T	0.0353874630367035	0.02873	T	0.243776	0.04542	T	0.102768846	0.24286	0.06501928	0.13116	0.102768846	0.24286	0.06501928	0.13116	-5.287	0.39814	T	.	.	0.118	0.25882	B	.;.	.;.	-0.061768	0.03875	0.843	0.40487662027949034	0.02860	0.01596	0.05182	N	AEFGBCI	0.293306	0.40397	N	-1.5528081256463	0.01518	0.0662986	-1.65179809095775	0.01367	0.06172616	0.999999861606895	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.475579	0.07313	0	0.564101	0.26826	0	.	.	2.63	-5.27	0.02551	-2.738000	0.00871	.	.	0.305000	0.19019	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2162:0.1331:0.2185:0.4321	0.780	0.00972	721	0.55360	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008753	0.010309	0.012228	0.032258	0.000000	0.000000	0.000000	0.000000	0.05263	6183.81	151	chr4	68816366	.	G	C	6183.81	.	AC=2;AF=0.053;AN=38;DP=2815;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=34.35;SOR=0.909	GT:AD:DP:GQ:PL	1/1:0,180:182:99:6211,541,0	18	1	0	0
chr4	69009980	69009980	A	C	exonic	UGT2B10	.	nonsynonymous SNV	UGT2B10:NM_001290091:exon5:c.T279G:p.N93K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	5631.81	34	chr4	69009980	.	A	C	5631.81	.	AC=2;AF=0.053;AN=38;DP=895;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=59.22;QD=33.93;SOR=1.367	GT:AD:DP:GQ:PL	1/1:0,166:166:99:5659,499,0	18	1	0	0
chr4	76144471	76144471	C	T	exonic	NUP54	.	nonsynonymous SNV	NUP54:NM_001278603:exon2:c.G70A:p.G24R,NUP54:NM_017426:exon2:c.G70A:p.G24R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	0.0050781477993	.	.	8.334e-06	0	0	0	0	0	0	6.192e-05	6.5e-06	1	154602	rs754506336	6.289e-06	6.841e-06	5.556e-06	7.031e-06	0.0001	2.96e-06	2.14e-06	5.956e-05	4.375e-05	0	0	0	0	0	0	0	0	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.91255	D	0.066	0.60972	T	0.0	0.02946	B	0.001	0.04355	B	0.008006	0.31069	N	0.385357	0.959995	0.81001	D	1.175	0.29870	L	.	.	.	-2.87	0.90254	D	0.617	0.63289	-0.7710	0.56803	T	0.207	0.56622	T	9	0.22527823	0.39353	T	0.005078	0.12877	T	0.180	0.45073	0.301	0.26843	0.223474106383	0.21959	0.6793147191729403	0.67870	0.398762958265	0.40930	0.628750920296	0.56967	T	0.185997	0.53915	T	-0.133262	0.30969	T	-0.203496	0.54314	T	0.721553087234497	0.41777	D	0.844715	0.52235	T	0.21035317	0.43329	0.17572999	0.40059	0.21035317	0.43329	0.17572999	0.40059	-12.296	0.86262	D	.	.	0.654	0.80150	P	.;.;.	.;.;.	5.257680	0.88276	29.5	0.99606320749006649	0.74516	0.86399	0.45671	D	AEFDBI	0.263025	0.38065	N	0.0686011861750199	0.45001	2.764204	0.231524177421162	0.51603	3.341598	0.999986528428204	0.51787	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.74	4.72	0.59248	2.985000	0.49051	5.805000	0.49965	0.595000	0.32841	1.000000	0.71638	1.000000	0.68203	0.917000	0.45243	0.0:0.9174:0.0:0.0826	13.900	0.63303	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	.	.	.	.	.	.	.	.	0.02632	530.33	12	chr4	76144471	.	C	T	530.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.375;DP=471;ExcessHet=0;FS=0;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.07;ReadPosRankSum=1.19;SOR=0.756	GT:AD:DP:GQ:PL	0/1:16,17:33:99:544,0,509	18	0	1	0
chr4	82874640	82874640	T	C	exonic	SEC31A	.	nonsynonymous SNV	SEC31A:NM_001191049:exon5:c.A595G:p.I199V,SEC31A:NM_001077206:exon6:c.A610G:p.I204V,SEC31A:NM_001077207:exon6:c.A610G:p.I204V,SEC31A:NM_001077208:exon6:c.A610G:p.I204V,SEC31A:NM_001300744:exon6:c.A610G:p.I204V,SEC31A:NM_001300745:exon6:c.A610G:p.I204V,SEC31A:NM_001318119:exon6:c.A610G:p.I204V,SEC31A:NM_016211:exon6:c.A610G:p.I204V,SEC31A:NM_001318120:exon8:c.A610G:p.I204V	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.0102378201004	.	.	3.295e-05	0	0	0	0	4.496e-05	0	6.058e-05	2.59e-05	4	154602	rs757673983	3.155e-05	3.147e-05	2.32e-05	3.998e-05	0.0003	2.418e-05	2.163e-05	6.101e-05	2.525e-05	0	0	0	0	0	0.0003	3.239e-05	4.977e-05	5.866e-05	6.569e-05	6.566e-05	0.0001	2.689e-05	0.0001	3.516e-05	2.615e-05	6.804e-05	5.087e-05	0	0	6.542e-05	0	0	0	0	0.0001	0	0	0.054	0.40573	T	0.084	0.43721	T	0.072	0.66517	B	0.147	0.73820	B	0.000003	0.62929	D	0.100958	1	0.81001	D	1.03	0.25572	L	1.63	0.62318	T	-0.92	0.24898	N	0.208	0.24634	-0.6747	0.61616	T	0.302	0.67316	T	10	0.2320399	0.40191	T	0.010238	0.26544	T	0.119	0.33137	.	.	0.590672040873	0.58743	0.12602120138890247	0.12528	0.129952961644	0.14657	0.578057289124	0.49811	T	0.057958	0.30711	T	-0.102587	0.35996	T	-0.254685	0.49352	T	0.199259549379349	0.20375	T	0.920308	0.72722	D	0.13182238	0.30713	0.08177547	0.18610	0.13182238	0.30713	0.08177547	0.18610	-9.955	0.73750	D	.	.	0.123	0.53694	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.247872	0.44367	21.9	0.9989516175890446	0.96819	0.96408	0.68991	D	AEFBI	0.653749	0.62667	D	0.282435717408477	0.55258	3.689978	0.341070732142696	0.57971	3.965183	0.999999999934365	0.74766	0.719381	0.83141	0	0.724815	0.89359	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	5.05	5.05	0.67566	4.078000	0.57327	4.038000	0.41399	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.0:1.0	14.955	0.70751	916	0.20744	.;.;WD40-repeat-containing domain;.;.;.;WD40-repeat-containing domain;WD40-repeat-containing domain;.;.;WD40-repeat-containing domain;.;WD40-repeat-containing domain;WD40-repeat-containing domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	995.33	33	chr4	82874640	.	T	C	995.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.963;DP=720;ExcessHet=0;FS=1.8;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=-1.161;SOR=0.512	GT:AD:DP:GQ:PL	0/1:38,42:80:99:1009,0,936	18	0	1	0
chr4	86848964	86848964	C	T	exonic	SLC10A6	.	nonsynonymous SNV	SLC10A6:NM_197965:exon1:c.G152A:p.C51Y	.	423	1095	4	0	0	4	0.00182315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.710	0.0637690959571	7.7e-05	0.000399361	0.0001	0	0	0	0	0.0002	0	0	0.00011	17	154602	rs376640232	5.815e-05	5.814e-05	5.309e-05	6.325e-05	0.0010	4.809e-05	4.431e-05	0.0005	0.0003	0	6.708e-05	0	0	0	0.0010	5.845e-05	0.0001	4.637e-05	7.878e-05	7.873e-05	7.709e-05	8.055e-05	0.0002	4.493e-05	3.509e-05	9.049e-05	7.013e-05	2.405e-05	0	0	0	0	0	0	0.0002	0	0	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	3.63	0.94006	H	2.65	0.12676	T	-10.25	0.98941	D	0.981	0.99100	-0.7469	0.58097	T	0.155	0.48602	T	10	0.95051485	0.94386	D	0.063769	0.69072	D	0.710	0.89650	.	.	0.302793454619	0.29890	0.6448068754258176	0.64415	0.443530537065	0.44276	0.61371922493	0.54842	T	0.193604	0.54912	T	0.0549123	0.58973	T	0.110401	0.77599	D	0.997667968273163	0.92113	D	0.918208	0.70605	D	0.9711168	0.98363	0.915942	0.96111	0.9711168	0.98363	0.915942	0.96112	-14.456	0.94444	D	.	.	0.874	0.81105	P	.	.	4.899405	0.80508	27.3	0.98757568867127732	0.45755	0.98516	0.83613	D	AEFGBCI	0.954603	0.97183	D	0.863434353077414	0.89858	10.14833	0.765193220306529	0.87288	9.170495	1.0	0.98316	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.85	5.85	0.93663	7.798000	0.84489	7.610000	0.61877	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.163000	0.20749	0.0:1.0:0.0:0.0	17.667	0.88109	708	0.56926	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	2066.33	33	chr4	86848964	.	C	T	2066.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.08;DP=860;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.68;ReadPosRankSum=0.976;SOR=0.669	GT:AD:DP:GQ:PL	0/1:81,82:163:99:2080,0,2244	18	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	2637.11	51	chr4	87615398	.	T	*	2637.11	.	AC=4;AF=0.105;AN=38;BaseQRankSum=0.46;DP=671;ExcessHet=1.8686;FS=3.681;InbreedingCoeff=-0.0857;MLEAC=4;MLEAF=0.105;MQ=59.87;MQRankSum=0;QD=8.43;ReadPosRankSum=-0.604;SOR=0.614	GT:AD:DP:GQ:PL	0/1:18,17:35:99:643,0,693	15	0	4	0
chr4	87615730	87615733	ATAG	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	983	222	100	33	184	350	0.272131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4444	5164.61	38	chr4	87615730	.	ATAG	*	5164.61	.	AC=16;AF=0.444;AN=36;BaseQRankSum=-0.227;DP=777;ExcessHet=1.1637;FS=2.579;InbreedingCoeff=-0.1366;MLEAC=16;MLEAF=0.444;MQ=58.46;MQRankSum=-3.184;QD=9.56;ReadPosRankSum=1.92;SOR=0.868	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:34,25:59:99:.:.:896,0,1277:.	5	3	10	1
chr4	87615731	87615731	T	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	147	40	1	11	27	50	0.223301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7632	118.42	38	chr4	87615731	.	T	*	118.42	.	AC=29;AF=0.763;AN=38;DP=779;ExcessHet=4.0268;FS=1.141;InbreedingCoeff=-0.2667;MLEAC=29;MLEAF=0.763;MQ=58.33;QD=0.23;SOR=0.84	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:34,25:59:99:.:.:896,0,1277:.	1	11	7	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4444	4778.36	38	chr4	87615734	.	CAGTGACAGCAGCAACAGCAGTGACAGCAGCGAT	*	4778.36	.	AC=16;AF=0.444;AN=36;BaseQRankSum=-0.944;DP=851;ExcessHet=1.1637;FS=2.579;InbreedingCoeff=-0.1366;MLEAC=16;MLEAF=0.444;MQ=58.45;MQRankSum=-3.184;QD=9.26;ReadPosRankSum=2.06;SOR=0.868	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:34,25:59:99:.:.:896,0,1277:.	5	3	10	1
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	4363.69	55	chr4	87615936	.	A	*	4363.69	.	AC=7;AF=0.25;AN=28;BaseQRankSum=-0.285;DP=451;ExcessHet=1.1125;FS=2.305;InbreedingCoeff=0.0232;MLEAC=9;MLEAF=0.321;MQ=55.7;MQRankSum=-2.72;QD=12.22;ReadPosRankSum=-1.255;SOR=0.824	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:26,25:51:99:0|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:924,0,1018:87615920	9	2	3	5
chr4	87615956	87615956	T	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2692	2510.01	55	chr4	87615956	.	T	*	2510.01	.	AC=7;AF=0.269;AN=26;BaseQRankSum=3.63;DP=394;ExcessHet=0.6653;FS=4.584;InbreedingCoeff=0.1064;MLEAC=9;MLEAF=0.346;MQ=53.66;MQRankSum=-2.052;QD=8.34;ReadPosRankSum=-0.124;SOR=0.949	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:26,25:51:99:0|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:924,0,1018:87615920	8	2	3	6
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2692	2047.43	55	chr4	87615962	.	C	*	2047.43	.	AC=7;AF=0.269;AN=26;BaseQRankSum=1.18;DP=371;ExcessHet=0.2598;FS=7.159;InbreedingCoeff=0.1738;MLEAC=9;MLEAF=0.346;MQ=53.6;MQRankSum=-2.771;QD=7.45;ReadPosRankSum=-1.016;SOR=0.961	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:26,25:51:99:0|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:924,0,1018:87615920	8	2	3	6
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3182	981.28	55	chr4	87615971	.	C	*	981.28	.	AC=7;AF=0.318;AN=22;BaseQRankSum=1.61;DP=354;ExcessHet=0.0418;FS=2.739;InbreedingCoeff=0.2051;MLEAC=10;MLEAF=0.455;MQ=55.08;MQRankSum=1.04;QD=4.34;ReadPosRankSum=-1.15;SOR=0.885	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:26,25:51:99:0|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:924,0,1018:87615920	6	2	3	8
chr4	87615974	87615974	C	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2188	63.98	55	chr4	87615974	.	C	*	63.98	.	AC=7;AF=0.219;AN=32;BaseQRankSum=0;DP=340;ExcessHet=0.0735;FS=0.516;InbreedingCoeff=0.248;MLEAC=9;MLEAF=0.281;MQ=50.01;MQRankSum=1.65;QD=0.31;ReadPosRankSum=0;SOR=0.763	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:26,25:51:99:0|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:924,0,1018:87615920	11	2	3	3
chr4	87616019	87616028	CAGCAGCAAT	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1786	877.71	61	chr4	87616019	.	CAGCAGCAAT	*	877.71	.	AC=5;AF=0.179;AN=28;DP=392;ExcessHet=0.0295;FS=0.482;InbreedingCoeff=0.3156;MLEAC=6;MLEAF=0.214;MQ=50.45;QD=3.82;SOR=0.76	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:38,23:61:99:0|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:842,0,1468:87615920	10	1	3	5
chr4	87616046	87616046	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	1014	481	12	14	1	41	0.0399202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	839.57	61	chr4	87616046	.	C	*	839.57	.	AC=5;AF=0.167;AN=30;BaseQRankSum=-0.517;DP=479;ExcessHet=0.0154;FS=1.009;InbreedingCoeff=0.3193;MLEAC=6;MLEAF=0.2;MQ=53.38;MQRankSum=-0.366;QD=3.62;ReadPosRankSum=-0.171;SOR=0.796	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:38,23:61:99:0|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:842,0,1468:87615920	11	1	3	4
chr4	87616061	87616061	T	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3125	848.5	61	chr4	87616061	.	T	*	848.5	.	AC=5;AF=0.313;AN=16;BaseQRankSum=-1.914;DP=485;ExcessHet=0.0678;FS=0;InbreedingCoeff=0.1824;MLEAC=9;MLEAF=0.563;MQ=54.94;MQRankSum=0;QD=3.66;ReadPosRankSum=1.32;SOR=0.726	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:38,23:61:99:0|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:842,0,1468:87615920	4	1	3	11
chr4	87616064	87616109	TAGCAGTGACAGCAGCAACAGCAGTGACAGCAGTGACAGCAGTGAA	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3125	802.61	61	chr4	87616064	.	TAGCAGTGACAGCAGCAACAGCAGTGACAGCAGTGACAGCAGTGAA	*	802.61	.	AC=5;AF=0.313;AN=16;BaseQRankSum=-1.732;DP=494;ExcessHet=0.0234;FS=0;InbreedingCoeff=0.1263;MLEAC=8;MLEAF=0.5;MQ=55.85;MQRankSum=0.137;QD=3.47;ReadPosRankSum=1.8;SOR=0.709	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:38,23:61:99:0|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:842,0,1468:87615920	4	1	3	11
chr4	99208834	99208834	A	G	exonic	ADH6	.	nonsynonymous SNV	ADH6:NM_000672:exon6:c.T662C:p.I221T,ADH6:NM_001102470:exon6:c.T662C:p.I221T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.268	0.00579804165359	.	.	8.246e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs760380675	1.095e-05	1.094e-05	1.089e-05	1.1e-05	4.474e-05	6.48e-06	5.24e-06	7.42e-06	3.88e-06	2.989e-05	4.474e-05	0	0	0	0	9.894e-06	0	2.319e-05	6.579e-06	6.569e-06	1.286e-05	0	2.417e-05	0	0	.	.	2.417e-05	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000025	0.55875	N	0.151855	0.999675	0.48205	D	3.49	0.92661	M	3.23	0.06931	T	-4.87	0.81269	D	0.838	0.91968	-1.0181	0.24334	T	0.093	0.35390	T	10	0.943249	0.93650	D	0.005798	0.15072	T	0.268	0.58254	0.809	0.92581	0.455909487837	0.45213	0.907197150233145	0.90692	0.4045995921	0.41359	0.569111943245	0.48551	T	0.128291	0.45585	T	-0.0423973	0.45591	T	-0.215812	0.53139	T	0.989503026008606	0.79737	D	0.905509	0.66687	D	0.058053024	0.11632	0.08017969	0.18115	0.058053024	0.11631	0.08017969	0.18115	-11.464	0.82142	D	.	.	0.357	0.62187	A	.;.;.;.	.;.;.;.	3.481875	0.48628	22.6	0.99211357091369701	0.55594	0.94810	0.62407	D	AEFDBI	0.789785	0.71887	D	0.349565213429115	0.58718	4.045693	0.157468828996819	0.47538	2.982619	0.84191406975798	0.24883	0.487112	0.14033	0	0.573888	0.26702	0	0.550215	0.18615	0	0.564101	0.26826	0	.	.	4.71	2.05	0.25860	6.444000	0.73372	2.875000	0.35292	-0.238000	0.07553	1.000000	0.71638	0.961000	0.29326	0.084000	0.17470	0.7904:0.0:0.0768:0.1328	6.948	0.23710	725	0.54935	Alcohol dehydrogenase, C-terminal;.;Alcohol dehydrogenase, C-terminal|Polyketide synthase, enoylreductase domain;Alcohol 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	.	.	.	.	.	.	.	.	0.02632	1688.33	33	chr4	99208834	.	A	G	1688.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.942;DP=733;ExcessHet=0;FS=0.724;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.35;ReadPosRankSum=2.03;SOR=0.749	GT:AD:DP:GQ:PL	0/1:45,65:110:99:1702,0,1176	18	0	1	0
chr4	99318097	99318097	C	G	exonic	ADH1B	.	nonsynonymous SNV	ADH1B:NM_000668:exon3:c.G208C:p.A70P,ADH1B:NM_001286650:exon4:c.G88C:p.A30P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	0.00535122917252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.83351	D	.	.	.	.	.	.	0.274284	0.15067	N	0.646799	0.986388	0.24621	N	.	.	.	3.67	0.04188	T	-2.9	0.60827	D	0.403	0.44379	-1.0901	0.05515	T	0.040	0.17404	T	10	0.78878886	0.78477	D	0.005351	0.13710	T	0.203	0.48915	0.793	0.91438	0.298403945805	0.29456	0.868512317625715	0.86816	0.674296566844	0.59635	0.391434371471	0.23871	T	0.010873	0.09774	T	-0.116403	0.33711	T	-0.404982	0.32804	T	0.962773263454437	0.66465	D	0.949205	0.80472	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.888	0.85099	P	.;.;.;.	.;.;.;.	3.508601	0.49119	22.7	0.99207734913482859	0.55472	0.90290	0.51349	D	AEFDGBI	0.896173	0.83696	D	-0.172128327332495	0.34298	1.956007	-0.333588702841019	0.27021	1.496536	0.828569575732975	0.24652	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.17	2.36	0.28258	3.367000	0.52075	3.858000	0.40123	-0.233000	0.07663	0.778000	0.29449	0.208000	0.23622	0.125000	0.19370	0.168:0.7474:0.0:0.0847	8.164	0.30373	624	0.65661	Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site|Polyketide synthase, enoylreductase domain;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site|Polyketide synthase, enoylreductase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4444	4800.47	119	chr4	99318097	.	C	G	4800.47	.	AC=16;AF=0.444;AN=36;BaseQRankSum=-2.037;DP=2929;ExcessHet=25.4433;FS=292.214;InbreedingCoeff=-0.7674;MLEAC=17;MLEAF=0.472;MQ=59.96;MQRankSum=0;QD=2.15;ReadPosRankSum=0.505;SOR=13.638	GT:AD:DP:GQ:PL	0/1:93,42:137:99:185,0,1495	2	0	16	1
chr4	99347057	99347057	C	G	exonic	ADH1C	.	nonsynonymous SNV	ADH1C:NM_000669:exon3:c.G208C:p.A70P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.79402	D	0.987	0.61912	D	0.964	0.71005	D	.	.	.	.	.	.	.	1.585	0.39878	L	.	.	.	.	.	.	0.553	0.57860	.	.	.	.	.	.	.	0.45086047	0.58689	T	.	.	.	.	.	.	.	0.456647468687	0.45291	0.8867280223172282	0.88641	.	.	0.398606598377	0.24874	T	0.025436	0.35537	T	0.163225	0.70500	D	-0.00331565	0.70121	D	.	.	.	0.937806	0.78939	D	0.76270866	0.81614	0.69800264	0.82213	0.76270866	0.81615	0.69800264	0.82214	-9.592	0.71430	D	.	.	0.950	0.86857	P	.;.;.	.;.;.	3.454651	0.48119	22.6	0.99707451619795451	0.81074	0.77981	0.38408	D	AEFI	0.799589	0.72581	D	.	.	.	.	.	.	2.3174768173114E-5	0.03498	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.057018	0.00518	0	.	.	3.71	2.86	0.32427	2.765000	0.47304	4.616000	0.44056	0.549000	0.26987	0.378000	0.25989	0.437000	0.24884	0.144000	0.20092	0.0:0.9091:0.0:0.0909	11.418	0.49207	625	0.65529	Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site|Polyketide synthase, enoylreductase domain;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	4767.86	165	chr4	99347057	.	C	G	4767.86	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-1.37;DP=2499;ExcessHet=31.086;FS=313.504;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=59.98;MQRankSum=0;QD=2.44;ReadPosRankSum=-0.377;SOR=11.97	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:68,49:118:99:.:.:498,0,1042:.	2	0	17	0
chr4	99650604	99650604	C	T	exonic	C4orf54	.	nonsynonymous SNV	C4orf54:NM_001354435:exon2:c.G4045A:p.A1349T	.	420	1044	54	4	0	62	0.0288372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	.	.	0.00179712	0.0219	0.0018	0.0106	0	0	0.0301	0.0152	0.0205	0.0028784	445	154602	rs578237898	0.0078	0.0074	0.0072	0.0084	0.0200	0.0077	0.0076	0.0191	0.0188	0.0010	0.0018	0.0485	0.0001	0.0099	0.0153	0.0064	0.0100	0.0200	0.0074	0.0074	0.0072	0.0075	0.0149	0.0070	0.0068	0.0121	0.0111	0.0014	0.0592	0.0029	0.0430	0	0.0096	0.0034	0.0092	0.0057	0.0149	0.634	0.05091	T	0.191	0.28391	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.41	0.33412	T	-0.33	0.12472	N	0.003	0.00016	-1.0305	0.20292	T	0.024	0.10284	T	6	0.001952678	0.00027	T	.	.	.	0.021	0.04004	.	.	.	.	0.16156227208077273	0.16077	.	.	.	.	.	0.002784	0.02176	T	-0.757066	0.00016	T	-0.844654	0.01031	T	0.00761506947138638	0.00088	T	0.423058	0.11286	T	0.02955128	0.02469	0.043511447	0.05428	0.02955128	0.02468	0.043511447	0.05428	-3.841	0.21418	T	.	.	0.064	0.01645	B	.	.	-1.237357	0.00495	0.011	0.4261979673845796	0.03154	0.00836	0.03355	N	AEFBI	0.062861	0.12112	N	-1.44376705273793	0.02266	0.09988632	-1.59410947096352	0.01691	0.07681173	0.999992599705002	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.657636	0.52715	0	0.564101	0.26826	0	.	.	4.34	-8.69	0.00741	-3.446000	0.00521	-6.698000	0.01329	-1.792000	0.00636	0.000000	0.06391	0.000000	0.08366	0.684000	0.33659	0.3552:0.1775:0.0:0.4673	6.006	0.18778	926	0.17793	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2446.33	54	chr4	99650604	.	C	T	2446.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.861;DP=1057;ExcessHet=0;FS=1.165;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.82;ReadPosRankSum=0.303;SOR=0.795	GT:AD:DP:GQ:PL	0/1:82,95:177:99:2460,0,2073	18	0	1	0
chr4	99651483	99651483	C	T	exonic	C4orf54	.	nonsynonymous SNV	C4orf54:NM_001354435:exon2:c.G3166A:p.G1056S	.	429	1090	3	0	0	3	0.00137426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.0139607097373	.	.	0.0003	0	0	0	0	0	0	0.0005	2.59e-05	4	154602	rs772857804	6.503e-05	6.156e-05	5.706e-05	7.321e-05	0.0005	5.381e-05	4.98e-05	0.0001	0.0001	0	0	0	0	0	0.0005	5.747e-05	0.0002	0.0002	5.258e-05	5.253e-05	5.14e-05	5.382e-05	0.0001	2.558e-05	1.831e-05	4.765e-05	3.339e-05	0	0	6.545e-05	0	0	0	0	0.0001	0	0	0.044	0.41096	D	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.47	0.31987	T	0.23	0.04613	N	0.096	0.07673	-0.9942	0.31512	T	0.059	0.24797	T	6	0.050219208	0.04724	T	0.013961	0.33748	T	0.040	0.10527	0.213	0.13210	0.112648838833	0.10856	0.0899372765184886	0.08926	.	.	.	.	.	0.007929	0.07302	T	-0.567349	0.00230	T	-0.749605	0.03501	T	0.0164062949429188	0.00407	T	0.523348	0.17107	T	0.056187827	0.11020	0.06868307	0.14374	0.056187827	0.11020	0.06868307	0.14374	-2.944	0.09590	T	.	.	0.075	0.05623	B	.	.	1.360872	0.17698	13.32	0.99568397444140799	0.72258	0.06078	0.12051	N	AEFDBI	0.270893	0.38686	N	-0.551027798394151	0.20452	1.07821	-0.675534897025946	0.17573	0.935021	0.998772326819289	0.37645	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.13	1.4	0.21393	-0.418000	0.07144	-0.727000	0.07679	0.599000	0.40250	0.003000	0.16062	0.000000	0.08366	0.411000	0.27028	0.1441:0.6043:0.0:0.2516	5.293	0.15047	926	0.17793	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2841.33	54	chr4	99651483	.	C	T	2841.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.663;DP=1078;ExcessHet=0;FS=1.95;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.14;ReadPosRankSum=0.925;SOR=0.886	GT:AD:DP:GQ:PL	0/1:79,97:176:99:2855,0,2213	18	0	1	0
chr4	106925843	106925843	C	T	exonic	DKK2	.	nonsynonymous SNV	DKK2:NM_014421:exon2:c.G329A:p.C110Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.827	0.176637981399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.654e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	0.997	0.70673	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.955	0.85029	M	-1.1	0.77336	T	-9.32	0.98533	D	0.932	0.94314	0.412	0.89282	D	0.664	0.88336	D	10	0.98750603	0.99120	D	0.176638	0.85234	D	0.827	0.94503	0.93	0.98900	0.885162981381	0.88403	0.9789097433456503	0.97881	1.10494106084	0.77866	0.885924994946	0.94743	D	0.85182	0.96635	D	0.396691	0.89724	D	0.332043	0.89595	D	0.999862909317017	0.99418	D	0.89791	0.64303	D	0.95217484	0.96487	0.9381204	0.97644	0.95217484	0.96487	0.9381204	0.97644	-13.914	0.92774	D	.	.	0.997	0.96936	P	.;.;.	.;.;.	5.043277	0.83952	28.2	0.99769904833187384	0.85834	0.98670	0.85379	D	AEFBI	0.952747	0.96846	D	0.846721317432968	0.88920	9.763857	0.817088242842445	0.90956	10.64858	0.999999544324329	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.42	5.42	0.78666	7.526000	0.80815	7.598000	0.61467	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	19.578	0.95446	856	0.34373	Dickkopf, N-terminal cysteine-rich;Dickkopf, N-terminal cysteine-rich;Dickkopf, N-terminal cysteine-rich	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3529	1714.38	33	chr4	106925843	.	C	T	1714.38	.	AC=12;AF=0.353;AN=34;BaseQRankSum=-3.035;DP=2024;ExcessHet=11.1788;FS=191.101;InbreedingCoeff=-0.5178;MLEAC=13;MLEAF=0.382;MQ=60;MQRankSum=0;QD=1.1;ReadPosRankSum=1.39;SOR=10.85	GT:AD:DP:GQ:PL	0/1:104,30:134:99:103,0,2230	5	0	12	2
chr4	119271801	119271801	G	C	exonic	USP53	.	nonsynonymous SNV	USP53:NM_001371396:exon13:c.G1788C:p.K596N,USP53:NM_001371397:exon14:c.G1941C:p.K647N,USP53:NM_001371399:exon14:c.G1941C:p.K647N,USP53:NM_001371398:exon15:c.G1941C:p.K647N,USP53:NM_019050:exon15:c.G1941C:p.K647N,USP53:NM_001371395:exon16:c.G1941C:p.K647N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.0273671481651	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.841e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.025	0.56192	D	0.998	0.73220	D	0.82	0.59072	P	0.035464	0.24640	N	0.405874	0.786313	0.34330	D	2.585	0.75554	M	0.48	0.55945	T	-1.65	0.39503	N	0.403	0.44379	-0.4066	0.71818	T	0.243	0.61142	T	10	0.2934904	0.46923	T	0.027367	0.50187	D	0.112	0.31546	0.179	0.08626	0.68695168648	0.68427	0.14079476716113953	0.14002	0.636712139675	0.57440	0.475926458836	0.35496	T	0.095754	0.39686	T	-0.159747	0.26799	T	-0.467242	0.25814	T	0.965206325054169	0.67194	D	0.876112	0.58827	D	0.22674352	0.45361	0.18983121	0.42352	0.22674352	0.45362	0.18983121	0.42351	-6.968	0.53800	T	.	.	0.529	0.65890	A	.;.	.;.	3.288410	0.45089	22.1	0.99870641327622545	0.94815	0.94427	0.61130	D	AEFDBI	0.426737	0.49097	N	0.437979510911287	0.63525	4.587841	0.405475257690823	0.61905	4.397378	0.999808580347288	0.43304	0.730579	0.87903	0	0.588015	0.36545	0	0.65145	0.50148	0	0.648885	0.59868	0	.	.	5.47	3.71	0.41733	1.781000	0.38274	2.576000	0.33390	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.2234:0.0:0.7766:0.0	9.652	0.39066	546	0.72524	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	99.72	80	chr4	119271801	.	G	C	99.72	.	AC=2;AF=0.083;AN=24;BaseQRankSum=-4.307;DP=2193;ExcessHet=0.119;FS=222.232;InbreedingCoeff=-0.1772;MLEAC=3;MLEAF=0.125;MQ=60;MQRankSum=0;QD=0.35;ReadPosRankSum=1.76;SOR=10.087	GT:AD:DP:GQ:PL	0/1:123,35:158:53:53,0,2854	10	0	2	7
chr4	124669334	124669334	T	C	exonic	ANKRD50	.	nonsynonymous SNV	ANKRD50:NM_001167882:exon3:c.A3406G:p.T1136A,ANKRD50:NM_020337:exon4:c.A3943G:p.T1315A	.	434	1083	5	0	0	5	0.00230309	.	.	.	2196212	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.070	0.00819272064781	.	0.000199681	0.0002	9.677e-05	0.0008	0	0	0.0002	0.0022	0	0.0001746	27	154602	rs181647409	0.0001	0.0001	0.0001	0.0001	0.0031	9.673e-05	9.151e-05	0.0020	0.0017	2.992e-05	0.0007	0	0	1.872e-05	0.0031	8.365e-05	0.0002	1.16e-05	7.226e-05	7.218e-05	8.998e-05	5.374e-05	0.0005	3.97e-05	3.127e-05	0.0003	0.0002	0	0	0.0005	0	0	0	0	4.412e-05	0	0	0.323	0.13436	T	0.812	0.04288	T	0.0	0.02946	B	0.0	0.01387	B	0.400482	0.13131	N	0.739569	1	0.08975	N	-0.205	0.04094	N	-0.1	0.64264	T	0.09	0.05917	N	0.183	0.19861	-1.0297	0.20551	T	0.098	0.36754	T	10	0.020296454	0.00465	T	0.008193	0.21700	T	0.070	0.20419	.	.	0.311241185304	0.30733	0.039691894586697245	0.03915	0.216188211431	0.24143	0.258401602507	0.04702	T	0.022033	0.17054	T	-0.472081	0.00825	T	-0.568717	0.15567	T	0.0442675925234509	0.04468	T	0.647535	0.25853	T	0.094593525	0.22244	0.040456355	0.04376	0.094593525	0.22244	0.040456355	0.04375	-2.875	0.08896	T	.	.	0.059	0.01075	B	.;.	.;.	0.832586	0.12043	8.596	0.87404963056626728	0.17204	0.56213	0.30059	D	AEFBI	0.118527	0.23173	N	-0.802277896070613	0.13252	0.6515171	-0.698920451797366	0.16987	0.9012347	0.828935214779097	0.24658	0.67177	0.52595	0	0.588015	0.36545	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	4.99	2.48	0.29194	0.820000	0.26979	0.861000	0.22228	0.580000	0.29708	0.878000	0.30948	0.980000	0.30356	0.876000	0.41813	0.0:0.0737:0.306:0.6203	7.296	0.25566	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	0.001511	0.000000	0.002717	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	2230.33	34	chr4	124669334	.	T	C	2230.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.533;DP=982;ExcessHet=0;FS=2.655;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=0.533;SOR=0.507	GT:AD:DP:GQ:PL	0/1:86,87:173:99:2244,0,2513	18	0	1	0
chr4	138223241	138223241	T	C	exonic	SLC7A11	.	nonsynonymous SNV	SLC7A11:NM_014331:exon4:c.A604G:p.I202V	.	428	1069	25	0	0	25	0.011558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.406	.	0.0080	0.00439297	0.0089	0.0014	0.0055	0	0.0070	0.0131	0.0088	0.0042	0.0086804	1342	154602	rs111500641	0.0097	0.0097	0.0096	0.0098	0.0114	0.0096	0.0095	0.0102	0.0102	0.0010	0.0061	0.0345	2.52e-05	0.0065	0.0114	0.0104	0.0104	0.0042	0.0078	0.0078	0.0082	0.0074	0.0109	0.0074	0.0073	0.0102	0.0100	0.0017	0	0.0081	0.0383	0	0.0062	0.0238	0.0109	0.0099	0.0048	0.002	0.72154	D	0.006	0.70582	D	0.418	0.35279	B	0.304	0.41178	B	0.000004	0.62929	D	0.078407	0.999564	0.47592	D	1.21	0.30464	L	-2.68	0.90391	D	-0.97	0.25770	N	0.802	0.79792	0.041	0.83065	D	0.481	0.80175	T	10	0.010551393	0.00234	T	.	.	.	0.406	0.71869	.	.	0.687896883233	0.68522	0.5049593626412712	0.50417	0.281763093226	0.30648	0.63954025507	0.58498	T	0.454831	0.79422	T	-0.189567	0.22322	T	-0.0346882	0.68056	D	0.0264413687447743	0.01466	T	0.884712	0.60854	D	0.3489142	0.56982	0.28546408	0.54549	0.3489142	0.56982	0.28546408	0.54548	-4.733	0.33801	T	.	.	0.125	0.26482	B	.	.	3.174172	0.43060	21.7	0.99684746465731477	0.79507	0.92448	0.55735	D	AEFDBCIJ	0.650362	0.62450	D	0.223736691890772	0.52351	3.409849	0.353894292728746	0.58743	4.04672	0.999999999991661	0.74766	0.730579	0.87903	0	0.708844	0.79440	0	0.459711	0.06710	0	0.648885	0.59868	0	.	.	5.57	5.57	0.84021	6.696000	0.74423	7.671000	0.64778	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	15.726	0.77519	954	0.10045	.	.	.	.	.	.	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	0.010101	0.008152	0.002924	0.000000	0.008621	0.018293	0.007576	0.02632	1246.33	34	chr4	138223241	.	T	C	1246.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.307;DP=721;ExcessHet=0;FS=2.506;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.98;ReadPosRankSum=1.29;SOR=0.488	GT:AD:DP:GQ:PL	0/1:50,54:104:99:1260,0,1372	18	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	.	.	.	.	.	.	.	.	0.4474	7878.87	96	chr4	140563137	.	C	G	7878.87	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-2.322;DP=1983;ExcessHet=31.086;FS=206.252;InbreedingCoeff=-0.8096;MLEAC=17;MLEAF=0.447;MQ=60;MQRankSum=0;QD=4.69;ReadPosRankSum=0;SOR=12.869	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:50,59:109:99:.:.:1041,0,1237:.	2	0	17	0
chr4	140563138	140563138	C	G	exonic	UCP1	.	nonsynonymous SNV	UCP1:NM_021833:exon4:c.G600C:p.E200D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.0146202776725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	2.052e-06	1.362e-06	0	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.631	0.05137	T	0.791	0.04181	T	0.004	0.12183	B	0.007	0.12992	B	0.003241	0.35241	N	0.324932	0.999999	0.08975	N	0.56	0.15190	N	-1.27	0.79277	T	-0.52	0.16187	N	0.133	0.12913	-1.0108	0.26666	T	0.158	0.49027	T	10	0.05424103	0.05744	T	0.01462	0.34856	T	0.090	0.26093	0.368	0.37687	0.494433119893	0.49078	0.5936266468194845	0.59292	0.149167586053	0.16817	0.271067947149	0.06281	T	0.121596	0.44467	T	-0.194226	0.21639	T	-0.516769	0.20622	T	0.0746878460049629	0.09294	T	0.60264	0.22576	T	0.06687306	0.14429	0.04191142	0.04870	0.06687306	0.14429	0.04191142	0.04870	-4.395	0.29489	T	.	.	0.106	0.19720	B	.	.	0.547365	0.09157	5.942	0.36715842428115708	0.02377	0.06566	0.12580	N	AEFBI	0.061408	0.11738	N	-1.30471918549485	0.03621	0.1620578	-1.29537821251235	0.04493	0.2120394	0.729658486604041	0.23029	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.22	-1.38	0.08554	-1.260000	0.02967	-2.964000	0.03187	-0.218000	0.08083	0.004000	0.16614	0.000000	0.08366	0.312000	0.24784	0.2442:0.2523:0.3582:0.1453	2.216	0.03717	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4737	9144.3	96	chr4	140563138	.	C	G	9144.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-1.858;DP=1991;ExcessHet=38.2876;FS=239.142;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=5.23;ReadPosRankSum=-0.093;SOR=13.038	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:50,46:100:99:.:.:1008,0,1242:.	1	0	18	0
chr4	154366329	154366329	G	A	exonic	DCHS2	.	nonsynonymous SNV	DCHS2:NM_001142552:exon3:c.C2357T:p.P786L,DCHS2:NM_001358235:exon3:c.C2357T:p.P786L	.	11	1492	19	0	0	19	0.00632701	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.252	0.022935540165	.	.	0.0003	0	0	0.0001	0	0.0001	0	0.0016	0.0002458	38	154602	rs776121940	0.0001	0.0001	7.215e-05	0.0002	0.0017	0.0001	0.0001	0.0013	0.0013	0	6.709e-05	0	2.52e-05	1.872e-05	0.0017	2.248e-05	0.0002	0.0016	7.237e-05	7.224e-05	3.858e-05	0.0001	0.0012	3.976e-05	3.131e-05	0.0005	0.0004	0	0	6.551e-05	0	0	9.43e-05	0	4.412e-05	0	0.0012	0.056	0.38185	T	0.47	0.12246	T	.	.	.	.	.	.	0.000025	0.55875	D	0.000000	0.994405	0.58761	D	.	.	.	0.23	0.59717	T	-7.39	0.94729	D	0.257	0.29081	-0.7546	0.57694	T	0.203	0.56073	T	10	0.04729852	0.04030	T	0.022936	0.45870	T	0.252	0.56159	.	.	0.572487460518	0.56915	0.14732694719053407	0.14654	0.083602548592	0.09429	0.418002486229	0.27562	T	.	.	.	-0.363034	0.03962	T	-0.324328	0.42098	T	0.211391301806368	0.21026	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.09917	B	.;.	.;.	3.680329	0.52381	23.2	0.99692421900675798	0.80044	0.97921	0.78139	D	AEFI	0.761082	0.69891	D	0.0879980630607209	0.45905	2.839226	0.164841798287514	0.47934	3.016299	0.999999974898402	0.74766	0.553676	0.25195	0	0.547309	0.14657	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.82	4.98	0.65679	6.911000	0.75569	7.540000	0.60069	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.951000	0.49849	0.0705:0.0:0.9295:0.0	14.610	0.68104	849	0.35778	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	0.001512	0.000000	0.000000	0.000000	0.050000	0.000000	0.006098	0.003788	0.02632	1258.33	35	chr4	154366329	.	G	A	1258.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.224;DP=720;ExcessHet=0;FS=3.772;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.11;ReadPosRankSum=0.751;SOR=0.415	GT:AD:DP:GQ:PL	0/1:47,49:96:99:1272,0,1210	18	0	1	0
chr4	176711629	176711629	G	C	exonic	VEGFC	.	nonsynonymous SNV	VEGFC:NM_005429:exon4:c.C574G:p.L192V	Lymphedema, hereditary, ID, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.389	0.00457388535514	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.36233	T	0.018	0.17786	B	0.016	0.17743	B	0.000002	0.62929	D	0.060984	0.999978	0.53665	D	1.445	0.36358	L	.	.	.	.	.	.	0.211	0.23506	-0.9162	0.46063	T	0.201	0.55723	T	9	0.21782258	0.38406	T	0.004574	0.11283	T	.	.	0.338	0.32816	0.258283824007	0.25425	0.20722753188937795	0.20638	.	.	0.476231843233	0.35538	T	0.511562	0.82742	D	-0.225602	0.17235	T	-0.561838	0.16204	T	0.975354909896851	0.70898	D	0.818018	0.47523	T	0.68111783	0.77030	0.5560567	0.74322	0.68111783	0.77031	0.5560567	0.74323	-3.092	0.11205	T	.	.	0.149	0.32898	B	.	.	2.846774	0.37571	20.5	0.99481528693655874	0.66904	0.93293	0.57830	D	AEFDGBIJ	0.738481	0.68334	D	0.0495151208025927	0.44120	2.691901	0.265583808111138	0.53542	3.522512	0.999999999071338	0.74766	0.50712	0.20391	0	0.573888	0.26702	0	0.658983	0.55881	0	0.635259	0.50027	0	.	.	5.98	5.98	0.97147	4.780000	0.62075	7.388000	0.58495	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	20.437	0.99095	901	0.24189	PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain	.	.	.	.	.	Likely benign	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	.	.	.	.	.	.	.	.	0.2632	1776.23	84	chr4	176711629	.	G	C	1776.23	.	AC=10;AF=0.263;AN=38;BaseQRankSum=-5.364;DP=1305;ExcessHet=6.9875;FS=98.024;InbreedingCoeff=-0.3577;MLEAC=10;MLEAF=0.263;MQ=60;MQRankSum=0;QD=2.1;ReadPosRankSum=0.755;SOR=10.318	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:72,16:88:71:0|1:176711629_G_C:71,0,2560:176711629	9	0	10	0
chr4	176711631	176711631	G	C	exonic	VEGFC	.	nonsynonymous SNV	VEGFC:NM_005429:exon4:c.C572G:p.P191R	Lymphedema, hereditary, ID, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	1678376	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.573	0.0164080950575	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0079	0.0007	0.0006	0.0007	0.0006	0.0006	0.0007	0.0007	0.0004	0.0001	0.0006	0.0005	0.0003	0.0004	0.0007	0.0006	0.0001	0	1.318e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.004	0.74150	D	1.0	0.90584	D	0.988	0.77976	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.78	0.81115	M	.	.	.	.	.	.	0.909	0.91047	-0.3248	0.74287	T	0.394	0.74735	T	9	0.8736812	0.86647	D	0.016408	0.37653	T	.	.	0.546	0.66015	0.51627217869	0.51271	0.670927250296511	0.67030	.	.	0.735086381435	0.72250	T	0.838317	0.96206	D	0.453469	0.92634	D	0.414	0.92543	D	0.994541704654694	0.85897	D	0.888611	0.61875	D	0.8869157	0.90244	0.57547873	0.75406	0.8869157	0.90246	0.57547873	0.75407	-14.113	0.93418	D	.	.	0.912	0.83607	P	.	.	5.440469	0.90928	32	0.99696376373392925	0.80316	0.99228	0.93120	D	AEFDGBIJ	0.929678	0.91581	D	0.858986860426177	0.89613	10.04438	0.885812039272356	0.94923	13.15767	1.0	0.98316	0.50712	0.20391	0	0.573888	0.26702	0	0.658983	0.55881	0	0.635259	0.50027	0	.	.	5.98	5.98	0.97147	9.591000	0.97403	11.818000	0.97148	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	20.437	0.99095	901	0.24189	PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.3889	2940.87	84	chr4	176711631	.	G	C	2940.87	.	AC=14;AF=0.389;AN=36;BaseQRankSum=-1.406;DP=1611;ExcessHet=17.0548;FS=119.901;InbreedingCoeff=-0.6179;MLEAC=14;MLEAF=0.389;MQ=60;MQRankSum=0;QD=2.47;ReadPosRankSum=1.04;SOR=11.46	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:72,16:88:71:0|1:176711629_G_C:71,0,2560:176711629	4	0	14	1
chr4	182681928	182681928	A	T	exonic	TENM3	.	nonsynonymous SNV	TENM3:NM_001080477:exon11:c.A1949T:p.D650V	Microphthalmia, isolated, with coloboma 9, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248	0.0358735553108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.002	0.79402	D	0.633	0.40250	P	0.306	0.41250	B	.	.	.	.	1	0.81001	D	2.2	0.62015	M	4.0	0.03239	T	-5.89	0.88767	D	0.712	0.71498	-1.1442	0.01209	T	0.025	0.10643	T	9	0.65178907	0.69645	D	0.035874	0.56631	D	0.248	0.55615	0.409	0.44395	0.239312915715	0.23560	0.5857603565133537	0.58506	1.0918701912	0.77457	0.497563689947	0.38489	T	0.663591	0.89934	D	0.0424333	0.57364	T	-0.176824	0.56816	T	0.975364089012146	0.70902	D	0.939806	0.77272	D	0.3734384	0.58838	0.46196255	0.68759	0.3734384	0.58838	0.46196255	0.68759	-7.785	0.59595	D	0.6507615619397493	0.72285	0.456	0.62503	A	.	.	3.684087	0.52454	23.2	0.99408682602591236	0.63169	0.98904	0.88416	D	AEFBI	0.913913	0.87656	D	0.547515203872012	0.69931	5.427675	0.597729164455419	0.74777	6.195061	0.999993587153647	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.5	5.5	0.81386	9.325000	0.96006	11.289000	0.91974	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.934000	0.47231	1.0:0.0:0.0:0.0	15.776	0.77985	954	0.10045	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	.	.	.	.	.	.	.	.	0.02632	1529.33	33	chr4	182681928	.	A	T	1529.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.34;DP=727;ExcessHet=0;FS=2.609;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.29;ReadPosRankSum=0.022;SOR=0.98	GT:AD:DP:GQ:PL	0/1:49,58:107:99:1543,0,1180	18	0	1	0
chr4	189953101	189953101	C	T	exonic	FRG1	.	nonsynonymous SNV	FRG1:NM_004477:exon4:c.C293T:p.T98M	.	169	1019	334	0	0	334	0.140809	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.267	.	.	.	0.4080	0.3423	0.3991	0.3531	0.3948	0.4099	0.4323	0.4613	0.0003816	59	154602	rs201275486	7.611e-05	0.0007	8.045e-05	7.169e-05	0.0003	6.427e-05	5.97e-05	0.0002	0.0002	6.318e-05	0.0003	0.0001	2.682e-05	0.0001	0.0003	5.437e-05	5.221e-05	0.0003	7.555e-05	0.0010	4.012e-05	0.0001	5.02e-05	4.146e-05	3.255e-05	8.32e-06	3.11e-06	5.02e-05	0	0	0	0	0.0007	0	3.052e-05	0	0	0.04	0.42199	D	0.067	0.44302	T	0.952	0.54136	P	0.4	0.44481	B	0.000001	0.84330	D	0.093692	1	0.81001	D	.	.	.	1.78	0.52642	T	-4.29	0.76414	D	0.333	0.37405	-0.8920	0.48758	T	0.126	0.43174	T	9	0.005040586	0.00109	T	.	.	.	0.267	0.58126	.	.	.	.	0.7086331413770478	0.70805	0.761265370882	0.64277	0.643288969994	0.59033	T	0.592736	0.86832	D	0.145454	0.68842	D	-0.0288412	0.68446	D	0.0610726985776521	0.07336	T	.	.	.	0.11254749	0.26589	0.23484966	0.48713	0.11254749	0.26589	0.23484966	0.48712	-9.66	0.71851	D	.	.	0.172	0.47039	B	.;.	.;.	3.588897	0.50628	23.0	0.99818926167319089	0.90238	0.93303	0.57857	D	AEFBI	0.649950	0.62423	D	0.332693509411821	0.57835	3.952406	0.333491443171521	0.57519	3.917869	0.999999999185946	0.74766	0.732398	0.92422	0	0.644132	0.57912	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	3.71	3.71	0.41733	4.481000	0.59983	3.605000	0.39235	-0.252000	0.07121	1.000000	0.71638	0.999000	0.35428	0.157000	0.20547	0.0:1.0:0.0:0.0	13.859	0.63048	991	0.01385	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.269832	0.442623	0.240437	0.270270	0.285714	0.236842	0.255725	0.272727	0.1389	276.26	16	chr4	189953101	.	C	T	276.26	.	AC=5;AF=0.139;AN=36;BaseQRankSum=-0.497;DP=358;ExcessHet=1.3;FS=1.238;InbreedingCoeff=-0.1694;MLEAC=5;MLEAF=0.139;MQ=55.06;MQRankSum=-2.435;QD=3.54;ReadPosRankSum=0.592;SOR=0.399	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:10,2:12:54:0|1:189953101_C_T:54,0,394:189953101	13	0	5	1
chr4	189953126	189953126	G	T	splicing	FRG1	NM_004477:exon4:c.317+1G>T	.	.	.	183	1055	284	0	0	284	0.11863	1.0000	0.936	.	794301	CIC-rearranged_sarcoma	MONDO:MONDO:0956989,MedGen:C3899764	no_classification_provided	not_provided	.	.	.	.	.	.	.	.	.	.	.	.	0.0016	0.0032	0.0014	0.0010	0.0009	0.0020	0	0.0006	0.0001153	3	26028	rs770433406	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.281809	0.81469	D	0.167022	0.81231	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.592813	0.92394	32	0.99300431696382707	0.58613	0.97908	0.78038	D	AEFBI	.	.	.	1.05490941371048	0.97203	15.74775	0.843458885629421	0.92630	11.53725	0.999999998414614	0.74766	0.258101	0.04556	0	0.375	0.05954	0	0.083675	0.02720	0	0.109871	0.03346	0	0.829964	0.49773	3.53	3.53	0.39533	8.827000	0.91663	11.037000	0.85129	0.601000	0.45875	1.000000	0.71638	1.000000	0.68203	0.327000	0.25133	0.0:0.0:1.0:0.0	13.458	0.60660	991	0.01385	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1316	307.42	14	chr4	189953126	.	G	T	307.42	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-0.732;DP=321;ExcessHet=1.3;FS=2.88;InbreedingCoeff=-0.1524;MLEAC=5;MLEAF=0.132;MQ=54.21;MQRankSum=-2.222;QD=4.59;ReadPosRankSum=1.2;SOR=0.293	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:9,2:11:57:0|1:189953101_C_T:57,0,372:189953101	14	0	5	0
chr5	182139	182139	G	T	exonic	PLEKHG4B	.	nonsynonymous SNV	PLEKHG4B:NM_052909:exon20:c.G4700T:p.G1567V	.	424	1097	1	0	0	1	0.000455581	.	.	.	2205034	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.077	0.00327906484156	0.0016	.	0.0013	0.0009	0.0006	0	0.0003	0.0018	0	0.0013	0.0013971	216	154602	rs116432258	0.0023	0.0023	0.0023	0.0023	0.0028	0.0022	0.0022	0.0027	0.0026	0.0003	0.0008	0.0002	0	0.0002	0.0014	0.0028	0.0016	0.0012	0.0015	0.0015	0.0017	0.0013	0.0026	0.0013	0.0013	0.0023	0.0022	0.0004	0.0011	0.0012	0.0003	0.0002	0	0	0.0026	0.0014	0.0019	0.026	0.46910	D	0.005	0.72224	D	0.48	0.36739	P	0.133	0.33073	B	.	.	.	.	0.946957	0.37548	D	0.69	0.16971	N	1.57	0.29342	T	-4.02	0.74269	D	0.079	0.05414	-1.0615	0.11385	T	0.022	0.09284	T	9	0.017669916	0.00379	T	0.003279	0.07268	T	0.077	0.22490	.	.	0.166414681773	0.16258	0.30353158454232226	0.30266	0.239812433971	0.26528	0.510400593281	0.40279	T	0.127647	0.45481	T	-0.569366	0.00223	T	-0.596489	0.13107	T	0.0339436972409935	0.02628	T	0.40026	0.10182	T	0.20364529	0.42449	0.15142497	0.35669	0.20364529	0.42449	0.15142497	0.35669	-5.765	0.44268	T	.	.	0.207	0.43352	B	.;.	.;.	0.283036	0.06599	3.090	0.96828047674173934	0.31252	0.45356	0.27520	N	AEFBI	0.104182	0.20852	N	-0.85823685602987	0.11847	0.5740645	-0.969205065871348	0.10481	0.5281474	0.97779223492916	0.29856	0.67177	0.52595	0	0.59043	0.45803	0	0.702456	0.68683	0	0.542086	0.14980	0	.	.	3.37	-4.93	0.02839	1.938000	0.39831	0.192000	0.15754	0.505000	0.23025	1.000000	0.71638	0.445000	0.24923	0.011000	0.09372	0.5007:0.3126:0.1867:0.0	4.540	0.11453	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	0.002014	0.000000	0.000000	0.000000	0.000000	0.008621	0.003049	0.011364	0.02632	1505.33	40	chr5	182139	.	G	T	1505.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.473;DP=981;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.68;ReadPosRankSum=-0.222;SOR=0.659	GT:AD:DP:GQ:PL	0/1:78,63:141:99:1519,0,2263	18	0	1	0
chr5	236504	236504	T	C	exonic	SDHA	.	nonsynonymous SNV	SDHA:NM_001294332:exon9:c.T1193C:p.V398A,SDHA:NM_001330758:exon10:c.T1337C:p.V446A,SDHA:NM_004168:exon10:c.T1337C:p.V446A	Cardiomyopathy, dilated, 1GG;Leigh syndrome, Autosomal recessive, Mitochondrial;Mitochondrial respiratory chain complex II deficiency, Autosomal recessive;Paragangliomas 5, Autosomal dominant	0	1415	107	0	0	107	0.0364317	.	.	YES	1685197	Pulmonary_artery_atresia|Hereditary_cancer-predisposing_syndrome|Paragangliomas_5|Neurodegeneration_with_ataxia_and_late-onset_optic_atrophy|Mitochondrial_complex_II_deficiency,_nuclear_type_1|Dilated_cardiomyopathy_1GG	Human_Phenotype_Ontology:HP:0004935,MedGen:C0265908|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072|MONDO:MONDO:0031006,MedGen:C5543254,OMIM:619259|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642,Orphanet:154	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.760	0.184775381618	.	.	9.889e-05	9.625e-05	0	0	0	0.0002	0	0	0.0001164	18	154602	rs201741295	2.059e-06	0.0011	0	4.141e-06	2.991e-05	5.5e-07	1.5e-07	.	.	2.991e-05	0	0	0	1.878e-05	0	9.019e-07	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.013	0.53900	D	0.005	0.72224	D	0.99	0.63424	D	0.909	0.64565	D	0.000109	0.50451	U	0.079100	1	0.81001	D	3.045	0.86684	M	-0.69	0.72678	T	-3.71	0.70674	D	0.605	0.65501	0.300	0.87565	D	0.577	0.84734	D	10	0.8255681	0.81738	D	0.184775	0.85771	D	0.760	0.91837	.	.	0.877245150884	0.87604	0.9245805198306615	0.92435	1.43342670029	0.85851	0.776162147522	0.78349	T	0.48089	0.82175	T	0.346948	0.86301	D	0.260591	0.86122	D	0.977276384830475	0.71767	D	0.756924	0.38041	T	0.79741704	0.83741	0.61894715	0.77809	0.79741704	0.83742	0.61894715	0.77809	-10.828	0.79062	D	0.4833891528602471	0.56162	0.972	0.92208	P	.;.;.;.	.;.;.;.	4.072770	0.60521	24.2	0.99699264171042234	0.80522	0.98006	0.78815	D	AEFBI	0.826800	0.74621	D	0.617996920376637	0.74313	6.111484	0.515888237046089	0.69056	5.306516	0.999969461029374	0.48965	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.01	5.01	0.66477	5.979000	0.70194	7.814000	0.69527	-0.125000	0.13442	1.000000	0.71638	1.000000	0.68203	0.045000	0.14751	0.0:0.0:0.0:1.0	12.955	0.57820	840	0.37365	FAD-dependent oxidoreductase 2, FAD binding domain;FAD-dependent oxidoreductase 2, FAD binding domain;FAD-dependent oxidoreductase 2, FAD 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	.	.	.	.	.	.	.	.	0.05263	309.83	35	chr5	236504	.	T	C	309.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.239;DP=880;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=57.72;MQRankSum=-9.12;QD=1.24;ReadPosRankSum=0.133;SOR=0.628	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:94,13:107:99:0|1:236502_G_T:263,0,3831:236502	17	0	2	0
chr5	236513	236513	C	T	exonic	SDHA	.	nonsynonymous SNV	SDHA:NM_001294332:exon9:c.C1202T:p.A401V,SDHA:NM_001330758:exon10:c.C1346T:p.A449V,SDHA:NM_004168:exon10:c.C1346T:p.A449V	Cardiomyopathy, dilated, 1GG;Leigh syndrome, Autosomal recessive, Mitochondrial;Mitochondrial respiratory chain complex II deficiency, Autosomal recessive;Paragangliomas 5, Autosomal dominant	0	1405	117	0	0	117	0.0399727	.	.	.	539257	Hereditary_cancer-predisposing_syndrome|Dilated_cardiomyopathy_1GG|not_provided|Paragangliomas_5|Pulmonary_artery_atresia	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642,Orphanet:154|MedGen:C3661900|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072|Human_Phenotype_Ontology:HP:0004935,MedGen:C0265908	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.416	0.458733665052	.	0.00179712	9.89e-05	9.619e-05	0	0	0	0.0002	0	0	0.0001746	27	154602	rs201139275	5.507e-06	0.0017	2.738e-06	8.307e-06	0.0002	2.37e-06	1.71e-06	7.2e-07	2e-07	2.996e-05	0	0	0	5.64e-05	0.0002	2.715e-06	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.013	0.64786	D	0.99	0.63424	D	0.585	0.50320	P	0.000265	0.46590	U	0.142014	1	0.81001	D	5.24	0.99965	H	-0.53	0.70833	T	-3.66	0.70067	D	0.748	0.74918	0.907	0.95770	D	0.762	0.91911	D	10	0.8196605	0.81179	D	0.458734	0.94474	D	0.699	0.89145	.	.	0.826059350657	0.82441	0.9492272012192984	0.94905	0.97409143716	0.73497	0.716711103916	0.69567	T	0.531492	0.83795	D	0.371442	0.88153	D	0.295774	0.88003	D	0.998724400997162	0.94977	D	0.872113	0.57861	D	0.9627981	0.97560	0.8899889	0.94266	0.9627981	0.97560	0.8899889	0.94266	-16.024	0.97797	D	0.9231894733639014	0.96700	0.996	0.96661	P	.;.;.;.	.;.;.;.	3.977713	0.58453	24.0	0.99927253316716125	0.99163	0.96878	0.71431	D	AEFBI	0.862645	0.78097	D	0.643185451586592	0.75929	6.393532	0.534785209024911	0.70347	5.491716	0.999999917444827	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	4.9	4.9	0.63643	5.874000	0.69399	7.567000	0.60617	-0.191000	0.09375	1.000000	0.71638	1.000000	0.68203	0.089000	0.17737	0.0:1.0:0.0:0.0	15.909	0.79242	840	0.37365	FAD-dependent oxidoreductase 2, FAD binding domain;FAD-dependent oxidoreductase 2, FAD binding domain;FAD-dependent oxidoreductase 2, FAD 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	.	.	.	.	.	.	.	.	0.05263	331.83	35	chr5	236513	.	C	T	331.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.826;DP=893;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=57.65;MQRankSum=-9.646;QD=1.29;ReadPosRankSum=1.79;SOR=0.682	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:100,13:113:99:0|1:236502_G_T:245,0,3982:236502	17	0	2	0
chr5	1078717	1078717	C	T	exonic	SLC12A7	.	nonsynonymous SNV	SLC12A7:NM_006598:exon11:c.G1438A:p.V480M	.	438	1082	2	0	0	2	0.000923361	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.568	0.647330518931	0.0025	0.00139776	0.0015	0.0004	0.0005	0	0	0.0024	0.0012	0.0009	0.0016494	255	154602	rs151053159	0.0030	0.0030	0.0031	0.0029	0.0036	0.0029	0.0029	0.0035	0.0035	0.0008	0.0010	0.0005	0	0.0004	0.0010	0.0036	0.0027	0.0008	0.0018	0.0018	0.0019	0.0017	0.0030	0.0016	0.0015	0.0026	0.0025	0.0005	0	0.0021	0.0006	0.0002	9.459e-05	0	0.0030	0.0024	0.0008	0.142	0.25457	T	0.248	0.23845	T	0.741	0.42992	P	0.166	0.35067	B	0.002162	0.37095	N	0.224855	0.998951	0.45755	D	1.765	0.45800	L	-5.07	0.98648	D	-1.59	0.38345	N	0.59	0.61002	0.870	0.95272	D	0.860	0.95329	D	10	0.041894913	0.02887	T	0.647331	0.97008	D	0.568	0.82403	.	.	0.930472019721	0.92976	0.7777339338642765	0.77723	0.956542286108	0.72841	0.679503798485	0.64197	T	0.614764	0.87842	D	-0.128726	0.31703	T	0.0421726	0.73069	D	0.0370793996680994	0.03170	T	0.976302	0.91743	D	0.09222915	0.21633	0.117353834	0.28330	0.09222915	0.21633	0.117353834	0.28329	-12.055	0.85118	D	.	.	0.342	0.56011	A	.	.	3.725271	0.53253	23.3	0.99772161387705216	0.86003	0.97855	0.77635	D	AEFGBI	0.764406	0.70121	D	-0.016782210147003	0.41095	2.452109	-0.0162198795516365	0.38983	2.304548	0.799667741121645	0.24163	0.706548	0.73137	0	0.78372	0.99691	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	3.71	3.71	0.41733	6.820000	0.75057	7.521000	0.59763	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.219000	0.22435	0.0:1.0:0.0:0.0	14.979	0.70950	976	0.04745	Amino acid permease/ SLC12A 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	0.003067	0.000000	0.02632	520.33	36	chr5	1078717	.	C	T	520.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.43;DP=713;ExcessHet=0;FS=0.865;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=5.31;ReadPosRankSum=1.05;SOR=0.857	GT:AD:DP:GQ:PL	0/1:70,28:98:99:534,0,1568	18	0	1	0
chr5	13864513	13864513	G	A	exonic	DNAH5	.	nonsynonymous SNV	DNAH5:NM_001369:exon28:c.C4480T:p.R1494W	Ciliary dyskinesia, primary, 3, with or without situs inversus	0	1517	4	1	0	6	0.00197368	.	.	.	521035	Primary_ciliary_dyskinesia|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	.	.	.	.	.	.	.	.	0.568	0.0997423386215	.	0.000199681	0.0001	0	0.0002	0	0	1.499e-05	0	0.0008	0.0001164	18	154602	rs535366955	9.44e-05	9.44e-05	5.581e-05	0.0001	0.0012	8.134e-05	7.65e-05	0.0010	0.0009	0	0	0	2.519e-05	1.872e-05	0.0012	1.619e-05	0.0001	0.0012	6.575e-05	6.565e-05	5.145e-05	8.07e-05	0.0012	3.519e-05	2.618e-05	0.0005	0.0004	4.821e-05	0	0	0	0.0002	0	0	1.471e-05	0	0.0012	0.0	0.91255	D	.	.	.	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.928957	0.36911	D	4.545	0.99110	H	-0.27	0.67367	T	-7.2	0.94223	D	0.866	0.86297	0.546	0.91177	D	0.627	0.86895	D	10	0.8989341	0.89252	D	0.099742	0.77157	D	0.568	0.82403	0.849	0.95143	0.800318515168	0.79845	0.8902563679122448	0.88995	0.449518881182	0.44739	0.640836238861	0.58682	T	0.866681	0.97086	D	0.00901795	0.52892	T	0.199644	0.83108	D	0.943406760692596	0.61853	D	0.998284	0.99183	D	0.950225	0.96288	0.9063166	0.95427	0.950225	0.96288	0.9063166	0.95427	-13.284	0.90498	D	0.7686270645114324	0.84982	0.560	0.67225	A	.	.	2.239517	0.28593	17.85	0.99805517978883496	0.88995	0.57738	0.30456	D	AEFI	0.508919	0.53860	D	0.0182761297899954	0.42687	2.576662	-0.291211242179471	0.28387	1.582413	0.128198736578796	0.17035	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.32	-5.55	0.02336	1.624000	0.36629	0.634000	0.20256	-0.235000	0.07621	0.955000	0.33325	0.376000	0.24592	0.455000	0.28006	0.0:0.0:0.7847:0.2153	21.017	0.99946	756	0.51065	Dynein heavy chain, domain-2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	1567.33	33	chr5	13864513	.	G	A	1567.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.619;DP=755;ExcessHet=0;FS=2.162;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.61;ReadPosRankSum=0.181;SOR=0.53	GT:AD:DP:GQ:PL	0/1:72,63:135:99:1581,0,1766	18	0	1	0
chr5	23527530	23527530	C	A	exonic	PRDM9	.	nonsynonymous SNV	PRDM9:NM_001310214:exon11:c.C2442A:p.S814R,PRDM9:NM_001376900:exon11:c.C2442A:p.S814R,PRDM9:NM_020227:exon11:c.C2442A:p.S814R	.	430	1016	30	0	46	76	0.014549	.	.	.	3547295	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.028	0.0025946380223	.	.	0.0006	0.0051	0.0004	0.0004	0	0.0003	0.0023	0.0002	.	.	.	rs1445421439	0.0005	0.0022	0.0005	0.0004	0.0067	0.0004	0.0004	0.0060	0.0057	0.0067	0.0011	0.0012	0.0019	3.795e-05	0.0017	0.0002	0.0012	0.0003	5.517e-05	0.0002	5.382e-05	5.658e-05	7.335e-05	2.379e-05	1.6e-05	2.411e-05	1.452e-05	4.091e-05	0	0	0.0003	0	0	0	7.335e-05	0	0	0.292	0.14894	T	0.272	0.22223	T	0.793	0.44725	P	0.246	0.38861	B	.	.	.	.	1	0.08975	N	0.91	0.23283	L	1.2	0.37405	T	-1.35	0.33598	N	0.116	0.10483	-1.0778	0.07781	T	0.043	0.18618	T	9	0.007636249	0.00173	T	0.002595	0.05235	T	0.028	0.06331	0.588	0.71623	0.0846915920261	0.08053	0.01985173112782321	0.01938	0.374703731158	0.38933	0.659872531891	0.61391	T	0.040852	0.25665	T	-0.347385	0.04893	T	-0.736771	0.04028	T	0.154884204268456	0.17485	T	0.0363964	0.00252	T	0.16016729	0.35940	0.08991091	0.21054	0.16016729	0.35939	0.08991091	0.21053	-2.79	0.08092	T	.	.	0.506	0.64857	A	.	.	-1.100849	0.00639	0.017	0.76626361170929536	0.11544	0.00595	0.02663	N	AEFDGBI	0.020734	0.00849	N	-1.13317599197083	0.06061	0.2780208	-1.37209568360649	0.03552	0.1659261	0.788608699109344	0.23974	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.02	-6.05	0.01988	-7.261000	0.00051	-20.000000	0.00162	-0.373000	0.05434	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3934:0.2122:0.0:0.3944	4.061	0.09317	984	0.02857	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	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	0.017970	0.005051	0.019022	0.004098	0.050000	0.051724	0.018293	0.015152	0.05263	2286.83	162	chr5	23527530	.	C	A	2286.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.216;DP=3320;ExcessHet=0.119;FS=19.49;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=52.06;MQRankSum=1.2;QD=6.48;ReadPosRankSum=1.85;SOR=3.907	GT:AD:DP:GQ:PL	0/1:158,13:172:99:1076,0,6336	17	0	2	0
chr5	23527531	23527531	A	G	exonic	PRDM9	.	nonsynonymous SNV	PRDM9:NM_001310214:exon11:c.A2443G:p.N815D,PRDM9:NM_001376900:exon11:c.A2443G:p.N815D,PRDM9:NM_020227:exon11:c.A2443G:p.N815D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.000610510653665	.	.	0.0007	0.0083	0.0004	0.0004	0	0.0003	0.0012	0.0002	0.0004851	75	154602	rs202203985	0.0001	0.0016	0.0001	9.829e-05	0.0024	8.811e-05	8.224e-05	0.0019	0.0017	0.0024	0.0002	0.0001	3.083e-05	6.109e-05	0.0004	4.031e-05	0.0002	0.0003	0.0002	0.0007	0.0003	0.0002	0.0004	0.0002	0.0001	0.0002	0.0001	0.0004	0	0.0002	0.0004	0	0	0	0.0003	0	0	0.17	0.22833	T	0.298	0.20486	T	0.001	0.07471	B	0.008	0.13708	B	.	.	.	.	1	0.08975	N	0.145	0.08828	N	2.05	0.20664	T	0.28	0.04233	N	0.041	0.01421	-1.0361	0.18513	T	0.032	0.13767	T	9	0.004351616	0.00088	T	6.11E-4	0.00289	T	0.040	0.10527	.	.	0.151104730317	0.14643	0.016712596279843173	0.01626	0.13996330157	0.15771	0.590891361237	0.51620	T	0.023753	0.18078	T	-0.436577	0.01355	T	-0.864889	0.00792	T	0.041924249380827	0.04041	T	0.00864199	0.00041	T	0.09816201	0.23149	0.06937948	0.14611	0.09816201	0.23149	0.06937948	0.14611	-1.368	0.01514	T	.	.	0.337	0.55692	B	.	.	-1.517119	0.00284	0.005	0.56675825690069459	0.05603	0.00145	0.00883	N	AEFDGBI	0.014849	0.00254	N	-2.58568011577053	0.00010	0.000438747	-2.73221310855866	0.00006	0.0002938632	0.938105425917875	0.27328	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.02	-6.05	0.01988	-7.997000	0.00034	-20.000000	0.00162	-1.646000	0.00832	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.093:0.115:0.5628:0.2292	7.125	0.24643	984	0.02857	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05556	301.3	162	chr5	23527531	.	A	G	301.3	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-1.147;DP=3280;ExcessHet=0.119;FS=17.851;InbreedingCoeff=-0.0765;MLEAC=2;MLEAF=0.056;MQ=52.07;MQRankSum=1.63;QD=0.92;ReadPosRankSum=3.11;SOR=2.654	GT:AD:DP:GQ:PL	0/1:157,3:163:99:1076,0,6336	16	0	2	1
chr5	23527541	23527541	-	GTCACCAGAGGACACACACAGGGGAGAAGCCCTATGTCTGCAGGGAGTGTGGGCGGGGCTTTAGCTGGCAGTCAGT	exonic	PRDM9	.	stopgain	PRDM9:NM_001310214:exon11:c.2453_2454insGTCACCAGAGGACACACACAGGGGAGAAGCCCTATGTCTGCAGGGAGTGTGGGCGGGGCTTTAGCTGGCAGTCAGT:p.H818Qfs*22,PRDM9:NM_001376900:exon11:c.2453_2454insGTCACCAGAGGACACACACAGGGGAGAAGCCCTATGTCTGCAGGGAGTGTGGGCGGGGCTTTAGCTGGCAGTCAGT:p.H818Qfs*22,PRDM9:NM_020227:exon11:c.2453_2454insGTCACCAGAGGACACACACAGGGGAGAAGCCCTATGTCTGCAGGGAGTGTGGGCGGGGCTTTAGCTGGCAGTCAGT:p.H818Qfs*22	.	434	1018	45	0	25	70	0.0216242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.805e-05	0	0	0	0	1.623e-05	0.0012	6.796e-05	.	.	.	.	0	0.0008	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	3.375e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	1387.54	162	chr5	23527541	.	A	AGTCACCAGAGGACACACACAGGGGAGAAGCCCTATGTCTGCAGGGAGTGTGGGCGGGGCTTTAGCTGGCAGTCAGT	1387.54	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-0.644;DP=3208;ExcessHet=0.119;FS=16.541;InbreedingCoeff=-0.0704;MLEAC=2;MLEAF=0.056;MQ=51.81;MQRankSum=1.21;QD=3.81;ReadPosRankSum=2.53;SOR=3.604	GT:AD:DP:GQ:PL	0/1:174,3:177:99:625,0,7016	16	0	2	1
chr5	32712459	32712459	G	A	exonic	NPR3	.	nonsynonymous SNV	NPR3:NM_000908:exon1:c.G683A:p.G228D,NPR3:NM_001204375:exon1:c.G683A:p.G228D	.	413	1105	4	0	0	4	0.00180668	.	.	.	1374374	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.188	0.0112639280892	.	.	0.0002	0	0.0002	0	0	9.252e-05	0.0012	0.0008	0.0001229	19	154602	rs770169526	9.15e-05	9.235e-05	6.707e-05	0.0001	0.0047	7.868e-05	7.347e-05	0.0033	0.0029	5.988e-05	0.0002	3.889e-05	5.041e-05	0	0.0047	1.622e-05	0.0003	0.0007	3.942e-05	3.94e-05	6.422e-05	1.345e-05	0.0002	1.715e-05	1.129e-05	.	.	2.412e-05	0	6.539e-05	0	0.0002	0	0.0032	1.47e-05	0	0.0002	0.23	0.19569	T	0.377	0.16522	T	0.307	0.32716	B	0.119	0.32162	B	0.000685	0.42383	D	0.198319	0.955032	0.81001	D	0.55	0.14455	N	1.6	0.28604	T	-0.35	0.12847	N	0.21	0.23380	-1.0899	0.05549	T	0.051	0.21495	T	10	0.050721318	0.04847	T	0.011264	0.28702	T	0.188	0.46444	.	.	0.564243864375	0.56087	0.5443427585139214	0.54360	.	.	0.446150064468	0.31418	T	0.136345	0.46866	T	-0.340947	0.05323	T	-0.356437	0.38466	T	0.0167897811495194	0.00434	T	0.649435	0.26018	T	0.172711	0.37977	0.18611683	0.41765	0.172711	0.37977	0.18611683	0.41764	-3.847	0.21508	T	.	.	0.152	0.33732	B	.;.	.;.	3.030423	0.40590	21.2	0.93716296706300939	0.23636	0.63614	0.32144	D	AEFDGBCIJ	0.157123	0.28258	N	-0.353339261820123	0.27148	1.487268	-0.201119464908883	0.31496	1.783047	0.999998957034114	0.74766	0.59774	0.34471	0	0.627178	0.54094	0	0.378051	0.06126	2	0.63947	0.58350	0	.	.	4.88	4.01	0.45821	2.646000	0.46296	9.954000	0.82748	-0.131000	0.13161	0.997000	0.40164	1.000000	0.68203	0.989000	0.64315	0.084:0.1587:0.7573:0.0	9.091	0.35773	845	0.36510	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	0.001514	0.000000	0.001359	0.005848	0.000000	0.000000	0.000000	0.000000	0.02632	2120.33	36	chr5	32712459	.	G	A	2120.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.05;DP=813;ExcessHet=0;FS=7.708;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.05;ReadPosRankSum=-0.776;SOR=1.251	GT:AD:DP:GQ:PL	0/1:96,80:176:99:2134,0,2699	18	0	1	0
chr5	41912079	41912079	A	G	exonic	C5orf51	.	nonsynonymous SNV	C5orf51:NM_175921:exon5:c.A497G:p.D166G	.	439	1080	3	0	0	3	0.00138696	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.597	0.141740505776	7.7e-05	0.00139776	0.0014	0	8.729e-05	0	0	7.498e-05	0	0.0100	0.001216	188	154602	rs61744914	0.0007	0.0007	0.0004	0.0010	0.0105	0.0007	0.0007	0.0099	0.0097	3.023e-05	4.492e-05	0	2.534e-05	1.881e-05	0.0014	7.011e-05	0.0007	0.0105	0.0003	0.0003	0.0002	0.0005	0.0091	0.0002	0.0002	0.0070	0.0062	0	0	6.539e-05	0	0	0	0.0034	4.411e-05	0	0.0091	0.009	0.57480	D	0.01	0.65728	D	0.997	0.70673	D	0.942	0.67772	D	0.000004	0.62929	D	0.103713	0.997888	0.44285	D	1.955	0.52871	M	-1.66	0.82715	D	-5.06	0.82764	D	0.458	0.49511	0.222	0.86285	D	0.570	0.84449	D	10	0.013438582	0.00285	T	0.141741	0.82414	D	0.597	0.84019	.	.	0.905744803982	0.90480	0.42591299135429667	0.42508	0.655228097295	0.58571	.	.	.	0.207839	0.56760	T	-0.206272	0.19908	T	-0.0613961	0.66235	T	0.0779166287754213	0.09718	T	0.839216	0.51320	T	0.6461428	0.75158	0.6856589	0.81517	0.6461428	0.75159	0.6856589	0.81518	-4.069	0.24831	T	.	.	0.396	0.59358	A	.	.	4.794032	0.77832	26.8	0.99837217375800191	0.91800	0.99205	0.92781	D	AEFBI	0.841358	0.75856	D	0.634368448607305	0.75361	6.292265	0.677816803513492	0.80698	7.357025	0.999999995948019	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	5.81	5.81	0.92413	7.304000	0.78201	11.196000	0.88846	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	14.787	0.69435	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	0.002520	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.011364	0.02632	1922.33	35	chr5	41912079	.	A	G	1922.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.344;DP=757;ExcessHet=0;FS=8.476;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.79;ReadPosRankSum=0.404;SOR=0.276	GT:AD:DP:GQ:PL	0/1:54,76:130:99:1936,0,1348	18	0	1	0
chr5	42800764	42800764	G	A	exonic	SELENOP	.	unknown	UNKNOWN	.	421	1067	34	0	0	34	0.0156827	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	.	0.0023	0.00119808	0.0038	0.0005	0.0034	0.0001	0.0080	0.0043	0.0044	0.0046	0.0035705	552	154602	rs28919926	0.0028	0.0028	0.0027	0.0030	0.0217	0.0028	0.0027	0.0186	0.0175	0.0007	0.0034	0.0064	7.573e-05	0.0070	0.0217	0.0024	0.0044	0.0046	0.0026	0.0026	0.0021	0.0031	0.0046	0.0024	0.0023	0.0031	0.0026	0.0006	0	0.0023	0.0075	0.0004	0.0058	0.0170	0.0030	0.0057	0.0046	0.006	0.61437	D	0.132	0.34477	T	.	.	.	.	.	.	0.073420	0.02276	N	2.028310	1	0.81001	D	0	0.06538	N	1.86	0.24285	T	-0.63	0.18459	N	.	.	-1.0518	0.13899	T	0.039	0.16720	T	8	0.0053276718	0.00117	T	.	.	.	0.080	0.23350	.	.	0.158396225186	0.15383	.	.	0.100324673575	0.11338	0.265668272972	0.05585	T	0.037531	0.24508	T	-0.494787	0.00612	T	-0.48117	0.24322	T	0.019768452463333	0.00679	T	0.505449	0.15971	T	0.10461975	0.24733	0.035460327	0.02801	0.10461975	0.24732	0.035460327	0.02800	.	.	.	.	.	.	.	.	.;.;.	.;.;.	1.783662	0.22680	15.72	0.94161102198599023	0.24367	0.73568	0.35985	D	AEFDBHCI	.	.	.	-0.68612997493368	0.16416	0.8361846	-0.627432514982187	0.18789	1.005286	0.911769160048033	0.26376	0.634777	0.41761	0	0.670034	0.63936	0	0.643519	0.47002	0	0.620846	0.47308	0	.	.	5.78	2.02	0.25641	0.703000	0.25321	1.930000	0.29765	-0.858000	0.02657	0.940000	0.32642	0.993000	0.31925	0.003000	0.05239	0.1149:0.1398:0.3231:0.4222	2.206	0.03695	412	0.82007	Selenoprotein P, C-terminal;Selenoprotein P, C-terminal;Selenoprotein P, 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	0.018653	0.010101	0.016304	0.017483	0.000000	0.034483	0.021341	0.011364	0.05263	2881.83	44	chr5	42800764	.	G	A	2881.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.27;DP=852;ExcessHet=0.119;FS=1.065;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.16;ReadPosRankSum=-0.13;SOR=0.796	GT:AD:DP:GQ:PL	0/1:60,70:130:99:1893,0,1391	17	0	2	0
chr5	42801077	42801077	C	T	exonic	SELENOP	.	unknown	UNKNOWN	.	417	1072	33	0	0	33	0.0151585	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	.	0.0023	0.00119808	0.0038	0.0005	0.0034	0	0.0080	0.0043	0.0045	0.0044	0.0035058	542	154602	rs146125471	0.0028	0.0028	0.0026	0.0030	0.0217	0.0028	0.0027	0.0186	0.0174	0.0006	0.0034	0.0064	5.038e-05	0.0070	0.0217	0.0024	0.0045	0.0046	0.0026	0.0026	0.0021	0.0031	0.0046	0.0024	0.0023	0.0031	0.0026	0.0005	0	0.0023	0.0075	0.0002	0.0058	0.0170	0.0030	0.0057	0.0046	0.258	0.16683	T	0.501	0.11153	T	.	.	.	.	.	.	0.002969	0.00929	N	4.932780	0.999997	0.08975	N	0.55	0.14455	N	1.98	0.21865	T	-0.12	0.10656	N	.	.	-1.0266	0.21560	T	0.032	0.13723	T	8	0.00429824	0.00086	T	.	.	.	0.043	0.11576	0.365	0.37199	0.0482279557977	0.04254	.	.	0.0781518737448	0.08793	0.238653287292	0.02670	T	0.037681	0.24563	T	-0.724005	0.00026	T	-0.810425	0.01656	T	0.00437265594384718	0.00047	T	0.377062	0.09013	T	0.044219453	0.07030	0.044099364	0.05638	0.044219453	0.07030	0.044099364	0.05637	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	0.286130	0.06629	3.123	0.87969429249463227	0.17617	0.10353	0.15883	N	AEFBHCI	0.177618	0.30486	N	-0.590136344076831	0.19243	1.005599	-0.650171381741476	0.18212	0.9719162	0.92380081443314	0.26756	0.706298	0.61202	0	0.659464	0.62310	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.64	2.34	0.28071	-0.045000	0.11957	-0.363000	0.09661	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.038000	0.14061	0.1279:0.4232:0.2249:0.2241	2.094	0.03441	412	0.82007	Selenoprotein P, C-terminal;Selenoprotein P, C-terminal;Selenoprotein P, 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	0.018135	0.005051	0.017663	0.017483	0.000000	0.034483	0.021341	0.011364	0.05263	3897.83	44	chr5	42801077	.	C	T	3897.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.96;DP=947;ExcessHet=0.119;FS=3.583;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.85;ReadPosRankSum=-0.753;SOR=0.546	GT:AD:DP:GQ:PL	0/1:79,86:165:99:2319,0,2164	17	0	2	0
chr5	50829904	50829904	A	G	exonic	PARP8	.	nonsynonymous SNV	PARP8:NM_001178056:exon21:c.A2050G:p.M684V,PARP8:NM_001331028:exon22:c.A2113G:p.M705V,PARP8:NM_024615:exon22:c.A2176G:p.M726V,PARP8:NM_001178055:exon23:c.A2176G:p.M726V	.	430	1084	8	0	0	8	0.00367647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.00670284399301	0.0015	0.000599042	0.0020	0.0006	0.0007	0	0	0.0022	0.0011	0.0048	0.0018887	292	154602	rs142626343	0.0018	0.0018	0.0016	0.0019	0.0059	0.0017	0.0017	0.0044	0.0041	0.0003	0.0008	0.0066	0	5.722e-05	0.0059	0.0016	0.0022	0.0046	0.0011	0.0011	0.0012	0.0010	0.0029	0.0009	0.0009	0.0018	0.0014	0.0002	0	0.0012	0.0055	0	0	0.0068	0.0015	0.0014	0.0029	0.614	0.09155	T	0.834	0.06448	T	0.003	0.14184	B	0.003	0.14300	B	0.000000	0.84330	D	0.000000	0.99871	0.45323	D	0.025	0.08010	N	2.48	0.14657	T	-0.15	0.09297	N	0.33	0.41754	-1.0611	0.11483	T	0.030	0.12804	T	9	0.011712164	0.00255	T	0.006703	0.17699	T	0.143	0.38195	.	.	0.347217280506	0.34334	0.7629276205720856	0.76240	0.789451278895	0.65700	0.516240000725	0.41098	T	0.040763	0.25635	T	-0.451423	0.01108	T	-0.42081	0.30984	T	0.149053514003754	0.17027	T	0.768423	0.40183	T	0.18151607	0.39326	0.15985855	0.37261	0.18151607	0.39326	0.15985855	0.37261	-8.864	0.66817	D	.	.	0.084	0.15654	B	.;.;.;.;.	.;.;.;.;.	2.926809	0.38873	20.8	0.70433891668309978	0.09294	0.89685	0.50309	D	AEFGBI	0.256155	0.37513	N	-0.0689450619117559	0.38760	2.275142	0.128083347782333	0.45991	2.852609	0.978530087881916	0.29932	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.51	5.51	0.81769	3.192000	0.50690	9.331000	0.80131	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	15.628	0.76629	699	0.57969	Poly(ADP-ribose) polymerase, catalytic domain|Poly(ADP-ribose) polymerase, catalytic domain;Poly(ADP-ribose) polymerase, catalytic domain|Poly(ADP-ribose) polymerase, catalytic domain;Poly(ADP-ribose) polymerase, catalytic domain|Poly(ADP-ribose) polymerase, catalytic domain;.;Poly(ADP-ribose) polymerase, catalytic domain|Poly(ADP-ribose) polymerase, 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	0.005035	0.000000	0.005435	0.005848	0.000000	0.008621	0.000000	0.015152	0.02632	836.33	37	chr5	50829904	.	A	G	836.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.873;DP=717;ExcessHet=0;FS=2.902;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.08;ReadPosRankSum=1.05;SOR=0.628	GT:AD:DP:GQ:PL	0/1:45,38:83:99:850,0,1263	18	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	.	.	.	.	.	.	.	.	0.1389	920.7	35	chr5	75118147	.	C	T	920.7	.	AC=5;AF=0.139;AN=36;BaseQRankSum=-2.889;DP=1710;ExcessHet=1.3;FS=99.544;InbreedingCoeff=-0.1753;MLEAC=5;MLEAF=0.139;MQ=60;MQRankSum=0;QD=1.24;ReadPosRankSum=1.07;SOR=10.307	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:101,13:114:52:0|1:75118147_C_T:52,0,3228:75118147	13	0	5	1
chr5	75146001	75146001	A	G	exonic	ANKRD31	.	nonsynonymous SNV	ANKRD31:NM_001164443:exon14:c.T3410C:p.I1137T,ANKRD31:NM_001372053:exon14:c.T3410C:p.I1137T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.208	0.0320185438598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.067e-06	5.908e-05	3.014e-06	3.121e-06	3.869e-06	7.2e-07	4.8e-07	9.1e-07	6.1e-07	0	0	0	0	0	0	3.869e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.34444	T	0.08	0.76473	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.705	0.44259	L	0.06	0.61798	T	0.5	0.02945	N	0.144	0.33904	-0.9725	0.36670	T	0.133	0.44622	T	7	0.07310486	0.11001	T	0.032019	0.53954	D	0.208	0.49714	0.399	0.42753	0.0666544352282	0.05500	0.1179940654002401	0.11726	.	.	0.431646108627	0.29434	T	6.79E-4	0.00299	T	-0.0895452	0.38151	T	-0.366402	0.37308	T	0.0622141301128149	0.07513	T	0.622038	0.23930	T	0.046649564	0.07844	0.065477386	0.13277	0.046649564	0.07844	0.065477386	0.13277	-3.908	0.22423	T	.	.	0.159	0.35204	B	.;.	.;.	-0.613964	0.01534	0.099	0.95776924258942753	0.27794	0.03341	0.08421	N	AEFI	0.072667	0.14510	N	-0.919827703521214	0.10379	0.4956785	-1.06350639893966	0.08427	0.4143377	9.32791732047118E-5	0.04910	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.14	-2.42	0.06164	-1.019000	0.03733	-0.266000	0.10387	-0.113000	0.14837	0.000000	0.06391	0.000000	0.08366	0.627000	0.32078	0.406:0.1456:0.1685:0.28	0.344	0.00315	845	0.36510	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2632	680.05	58	chr5	75146001	.	A	G	680.05	.	AC=10;AF=0.263;AN=38;BaseQRankSum=-2.908;DP=1586;ExcessHet=6.9875;FS=78.135;InbreedingCoeff=-0.3633;MLEAC=10;MLEAF=0.263;MQ=60;MQRankSum=0;QD=0.69;ReadPosRankSum=1.52;SOR=10.468	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:67,17:84:28:.:.:28,0,1489:.	9	0	10	0
chr5	75702757	75702757	A	G	exonic	POC5	.	nonsynonymous SNV	POC5:NM_152408:exon4:c.T286C:p.F96L,POC5:NM_001099271:exon5:c.T361C:p.F121L	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.0486576203862	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.075e-06	2.052e-06	1.373e-06	2.787e-06	0.0002	5.5e-07	1.5e-07	.	.	0	0	0	2.541e-05	0	0.0002	0	1.668e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.91255	T	0.496	0.92824	T	0.473	0.73220	P	0.188	0.77487	B	0.000042	0.53742	D	0.164528	0.779508	0.35691	D	2.665	0.77964	M	1.91	0.60361	T	-1.48	0.89534	N	0.122	0.17691	-0.2516	0.76316	T	0.322	0.69082	T	10	0.21796706	0.38424	T	0.048658	0.63470	D	0.143	0.38195	0.212	0.13066	0.753039047814	0.75080	0.3864625305438102	0.38561	0.360073558052	0.37695	0.486249089241	0.36919	T	0.003187	0.14102	T	0.0261812	0.55212	T	-0.200169	0.54630	T	0.943897128105164	0.61951	D	0.873813	0.63622	D	0.09090223	0.21285	0.07746843	0.17261	0.09090223	0.21285	0.07746843	0.17261	-2.059	0.03860	T	.	.	0.859	0.80757	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.056676	0.41036	21.3	0.9931516414390994	0.59166	0.83551	0.42660	D	AEBI	0.148756	0.27270	N	0.32169461854497	0.57264	3.893052	0.3863886829351	0.60725	4.263376	0.999187531201326	0.38681	0.719381	0.83141	0	0.723133	0.82719	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.86	5.86	0.93936	3.134000	0.50233	11.074000	0.85633	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.8898:0.0:0.1102:0.0	8.769	0.33879	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	.	.	.	.	.	.	.	.	0.02632	828.33	36	chr5	75702757	.	A	G	828.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.152;DP=712;ExcessHet=0;FS=8.256;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.53;ReadPosRankSum=-0.345;SOR=0.162	GT:AD:DP:GQ:PL	0/1:26,31:57:99:842,0,738	18	0	1	0
chr5	76618493	76618493	C	G	exonic	F2RL2	.	nonsynonymous SNV	F2RL2:NM_001256566:exon2:c.G148C:p.E50Q,F2RL2:NM_004101:exon2:c.G214C:p.E72Q	.	432	1087	3	0	0	3	0.00137804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.0112722395922	.	.	.	.	.	.	.	.	.	.	.	.	.	rs997108352	2.052e-06	2.052e-06	1.361e-06	2.75e-06	0.0003	5.5e-07	1.5e-07	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	8.993e-07	0	0	6.567e-06	6.562e-06	1.285e-05	0	.	0	0	.	.	0	0	0	0	0	0	0.0034	0	0	0	0.154	0.28395	T	0.495	0.16280	T	0.022	0.18677	B	0.01	0.14941	B	0.431532	0.04707	N	1.321060	1	0.08975	N	1.845	0.48678	L	-0.07	0.63738	T	-0.51	0.15986	N	0.063	0.05414	-0.9928	0.31880	T	0.164	0.50094	T	10	0.0758363	0.11772	T	0.011272	0.28723	T	0.051	0.14325	0.329	0.31357	0.597098042045	0.59389	0.3401473192216402	0.33927	0.0546206269692	0.06044	0.239340156317	0.02732	T	0.067172	0.33134	T	-0.21587	0.18561	T	-0.547859	0.17532	T	0.0352957895614699	0.02858	T	0.660434	0.26965	T	0.092090495	0.21597	0.045952443	0.06296	0.092090495	0.21597	0.045952443	0.06295	-4.233	0.27226	T	.	.	0.086	0.10931	B	.;.	.;.	1.180046	0.15702	12.04	0.93977807329749996	0.24056	0.15915	0.19142	N	AEFBI	0.265745	0.38281	N	-0.582830629742811	0.19466	1.019021	-0.504063333757843	0.22041	1.195307	0.999846810878649	0.43971	0.562547	0.31514	0	0.547309	0.14657	0	0.547309	0.15389	0	0.635551	0.53088	0	.	.	5.11	2.97	0.33479	0.142000	0.15917	0.446000	0.18474	0.599000	0.40250	0.000000	0.06391	0.054000	0.21897	0.997000	0.79791	0.1164:0.5405:0.1782:0.1648	4.123	0.09586	832	0.38914	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.02632	1562.33	43	chr5	76618493	.	C	G	1562.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.156;DP=840;ExcessHet=0;FS=0.661;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.4;ReadPosRankSum=0.61;SOR=0.767	GT:AD:DP:GQ:PL	0/1:64,62:126:99:1576,0,1783	18	0	1	0
chr5	95284184	95284184	G	C	exonic	MCTP1	.	nonsynonymous SNV	MCTP1:NM_024717:exon1:c.C392G:p.P131R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.494	0.953201831891	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.547	0.06648	T	0.794	0.04142	T	0.745	0.43117	P	0.303	0.41149	B	.	.	.	.	0.985743	0.24682	N	0	0.06538	N	-2.31	0.87750	D	0.21	0.04776	N	0.417	0.45709	-0.5708	0.65982	T	0.341	0.70648	T	9	0.40879706	0.56080	T	0.953202	0.99683	D	0.494	0.77973	0.287	0.24601	0.34854441366	0.34469	0.2781292451795802	0.27725	0.44134038575	0.44124	0.884256601334	0.94526	D	0.010838	0.09742	T	0.0380829	0.56794	T	-0.183073	0.56237	T	0.194521219067011	0.20107	T	0.516048	0.16641	T	0.06946807	0.15220	0.10152038	0.24305	0.06946807	0.15220	0.10152038	0.24305	-2.43	0.05320	T	.	.	0.192	0.41109	B	.	.	4.059084	0.60224	24.2	0.80150361996521979	0.13068	0.46077	0.27680	N	ALL	0.141524	0.26371	N	-0.506198782960107	0.21879	1.164355	-0.451932303822552	0.23495	1.281522	0.999999999136792	0.74766	0.56387	0.32371	0	0.491552	0.07993	0	0.503968	0.08637	0	0.618803	0.45993	0	.	.	4.27	3.4	0.38031	1.140000	0.31128	11.433000	0.92746	0.654000	0.53741	0.847000	0.30396	1.000000	0.68203	0.327000	0.25133	0.0918:0.0:0.9082:0.0	11.151	0.47680	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	.	.	.	.	.	.	.	.	0.02632	451.33	27	chr5	95284184	.	G	C	451.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.604;DP=712;ExcessHet=0;FS=5.389;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.4;ReadPosRankSum=-0.889;SOR=0.45	GT:AD:DP:GQ:PL	0/1:40,21:61:99:465,0,1169	18	0	1	0
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	.	.	.	.	.	.	.	.	0.1471	340.2	63	chr5	102270770	.	G	C	340.2	.	AC=5;AF=0.147;AN=34;BaseQRankSum=-1.79;DP=1035;ExcessHet=2.0135;FS=96.392;InbreedingCoeff=-0.2208;MLEAC=5;MLEAF=0.147;MQ=60;MQRankSum=0;QD=1.08;ReadPosRankSum=0.944;SOR=7.835	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:34,7:41:54:0|1:102270769_T_C:54,0,965:102270769	12	0	5	2
chr5	116015368	116015368	-	ATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTG	exonic	LVRN	.	stopgain	LVRN:NM_173800:exon17:c.2567_2568insATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTG:p.Q857Yfs*7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0006	0.0003	0.0001	0.0003	0.0005	0	0.0021	3.84e-05	1	26028	rs760127445	0.0002	0.0006	0.0001	0.0003	0.0002	0.0002	0.0002	0.0002	0.0002	9.111e-05	0.0002	0.0001	0.0001	0.0006	0	0.0002	0.0002	0.0002	0.0001	0.0016	9.04e-05	0.0001	0.0002	7.612e-05	6.311e-05	0.0001	7.945e-05	4.827e-05	0	0	0	0.0002	0.0002	0	0.0002	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	82.15	34	chr5	116015368	.	T	TATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTG	82.15	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.156;DP=973;ExcessHet=0.119;FS=40.307;InbreedingCoeff=-0.0507;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.36;ReadPosRankSum=-2.229;SOR=4.356	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:105,10:115:94:.:.:94,0,4340:.	17	0	2	0
chr5	122020189	122020189	A	G	exonic	SRFBP1	.	nonsynonymous SNV	SRFBP1:NM_152546:exon6:c.A454G:p.N152D	.	426	1094	1	0	1	2	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.00275456947645	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1387131664	4.11e-06	4.104e-06	6.814e-06	1.377e-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	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	0.466	0.08584	T	0.459	0.12632	T	0.309	0.32767	B	0.058	0.26451	B	0.257128	0.03685	N	1.392810	1	0.08975	N	1.725	0.44537	L	.	.	.	-0.67	0.19297	N	0.127	0.12055	-1.0032	0.28992	T	0.101	0.37316	T	9	0.055455297	0.06063	T	0.002755	0.05694	T	0.057	0.16321	0.234	0.16305	0.0986583533028	0.09354	0.11349827709210726	0.11277	0.00610158621957	0.00535	0.231430619955	0.02076	T	0.024349	0.18415	T	-0.298724	0.08780	T	-0.666873	0.07810	T	0.10639283347621	0.13046	T	0.29867	0.05569	T	0.038753424	0.05224	0.044795662	0.05882	0.038753424	0.05224	0.044795662	0.05882	-3.467	0.15973	T	.	.	0.062	0.01290	B	.	.	2.256859	0.28836	17.93	0.9667118803676632	0.30665	0.62552	0.31816	D	AEFDBHIJ	0.095747	0.19339	N	-0.46275075254192	0.23310	1.250838	-0.44644393386186	0.23650	1.290843	0.999917002726958	0.45857	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.66	1.62	0.22817	1.198000	0.31831	0.935000	0.22809	0.691000	0.84096	0.527000	0.27166	0.025000	0.21018	0.403000	0.26849	0.6915:0.2422:0.0663:0.0	9.344	0.37260	795	0.45444	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1550.33	34	chr5	122020189	.	A	G	1550.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.204;DP=745;ExcessHet=0;FS=1.441;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.5;ReadPosRankSum=-1.087;SOR=0.549	GT:AD:DP:GQ:PL	0/1:66,58:124:99:1564,0,1909	18	0	1	0
chr5	123029388	123029388	C	-	exonic	PPIC	.	frameshift deletion	PPIC:NM_000943:exon2:c.148delG:p.D50Mfs*6	.	441	1071	10	0	0	10	0.00464684	.	.	.	2827955	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0071	0.00239617	0.0052	0.0016	0.0041	0.0001	0.0009	0.0078	0.0067	0.0019	0.0011526	30	26028	rs45449493	0.0072	0.0072	0.0074	0.0070	0.0087	0.0071	0.0071	0.0082	0.0081	0.0010	0.0049	0.0121	5.051e-05	0.0006	0.0087	0.0083	0.0080	0.0022	0.0049	0.0049	0.0053	0.0045	0.0073	0.0046	0.0045	0.0068	0.0066	0.0013	0	0.0071	0.0133	0.0002	0.0002	0.0068	0.0073	0.0104	0.0025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007553	0.005051	0.010870	0.000000	0.000000	0.008621	0.003049	0.007576	0.02632	2843.29	36	chr5	123029387	.	TC	T	2843.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.034;DP=807;ExcessHet=0;FS=11.756;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.73;ReadPosRankSum=-0.229;SOR=0.462	GT:AD:DP:GQ:PL	0/1:84,86:170:99:2857,0,2829	18	0	1	0
chr5	128966261	128966261	A	C	exonic	SLC27A6	.	nonsynonymous SNV	SLC27A6:NM_001017372:exon1:c.A124C:p.I42L,SLC27A6:NM_001317984:exon2:c.A124C:p.I42L,SLC27A6:NM_014031:exon2:c.A124C:p.I42L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00436532012237	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.654	0.04786	T	0.889	0.03143	T	0.0	0.02946	B	0.0	0.01387	B	0.181148	0.17099	N	0.630810	1	0.08975	N	0.07	0.08264	N	0.87	0.46412	T	0.21	0.04776	N	0.059	0.03392	-1.0264	0.21625	T	0.034	0.14639	T	10	0.04039848	0.02606	T	0.004365	0.10624	T	0.029	0.06676	0.443	0.49975	0.178374595973	0.17440	0.25011936044121075	0.24925	0.0501599834194	0.05505	0.327389061451	0.14540	T	0.009914	0.08996	T	-0.319458	0.06942	T	-0.696656	0.06010	T	0.0370621772378034	0.03167	T	0.289971	0.05268	T	0.05215667	0.09685	0.03313541	0.02159	0.05215667	0.09685	0.03313541	0.02159	-3.377	0.14748	T	.	.	0.069	0.02993	B	.;.;.	.;.;.	-1.335579	0.00409	0.008	0.56311195743332199	0.05525	0.09322	0.15101	N	AEDBCI	0.098507	0.19849	N	-1.38483355317165	0.02779	0.123225	-1.42979596280148	0.02958	0.1370893	0.757695880870402	0.23460	0.652421	0.48094	0	0.573888	0.26702	0	0.64067	0.45733	0	0.530356	0.10902	0	.	.	4.44	-3.97	0.03821	-1.393000	0.02627	-0.105000	0.11895	-0.100000	0.15956	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2338:0.4128:0.1796:0.1738	2.249	0.03792	593	0.68665	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1251.33	116	chr5	128966261	.	A	C	1251.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.144;DP=1677;ExcessHet=0;FS=0.721;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.69;ReadPosRankSum=1.15;SOR=0.742	GT:AD:DP:GQ:PL	0/1:57,50:107:99:1265,0,1631	18	0	1	0
chr5	132824796	132824796	C	T	exonic	SHROOM1	.	nonsynonymous SNV	SHROOM1:NM_133456:exon3:c.G1060A:p.V354M,SHROOM1:NM_001172700:exon6:c.G1060A:p.V354M	.	409	1111	1	1	0	3	0.00134831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	.	.	0.00359425	0.0026	0	8.657e-05	0	0	0	0	0.0188	0.0022121	342	154602	rs550046729	0.0011	0.0011	0.0006	0.0017	0.0182	0.0011	0.0011	0.0175	0.0172	2.987e-05	4.472e-05	0	2.519e-05	0	0.0010	3.597e-06	0.0014	0.0182	0.0006	0.0006	0.0004	0.0008	0.0180	0.0005	0.0005	0.0150	0.0139	2.407e-05	0	0	0	0	0	0.0034	0	0.0005	0.0180	0.04	0.42199	D	0.084	0.41239	T	0.131	0.29860	B	0.039	0.29395	B	0.003968	0.00996	N	2.755150	1	0.08975	N	0.975	0.24501	L	1.84	0.24656	T	-0.21	0.10480	N	0.112	0.09914	-1.0362	0.18481	T	0.042	0.17910	T	10	0.0029231608	0.00047	T	.	.	.	0.015	0.02232	0.202	0.11659	0.246215685461	0.24236	0.10321011626801771	0.10251	0.0292523550471	0.03013	0.314012169838	0.12513	T	0.030936	0.21808	T	-0.676859	0.00050	T	-0.729442	0.04352	T	0.0248634875007676	0.01254	T	0.625537	0.24174	T	0.022781417	0.00965	0.032667197	0.02038	0.022781417	0.00965	0.032667197	0.02038	-5.075	0.37643	T	.	.	0.106	0.21987	B	.;.;.	.;.;.	0.926714	0.13016	9.523	0.99354477290236642	0.60738	0.06744	0.12766	N	AEFDBCI	0.080458	0.16267	N	-0.973859914062261	0.09164	0.4326207	-1.0418418270298	0.08877	0.4387043	0.999940614301394	0.47345	0.718356	0.82227	0	0.570548	0.20475	0	0.673471	0.61138	0	0.635551	0.53088	0	.	.	3.93	0.095	0.13794	-0.366000	0.07616	0.050000	0.13987	0.580000	0.29708	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.4951:0.1859:0.319	3.733	0.08029	909	0.22467	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	700.33	34	chr5	132824796	.	C	T	700.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.53;DP=677;ExcessHet=0;FS=2.75;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.08;ReadPosRankSum=0.405;SOR=0.321	GT:AD:DP:GQ:PL	0/1:19,22:41:99:714,0,454	18	0	1	0
chr5	133990901	133990901	G	A	exonic	VDAC1	.	nonsynonymous SNV	VDAC1:NM_003374:exon5:c.C277T:p.R93C	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.223	.	7.7e-05	0.00219649	0.0011	9.766e-05	8.702e-05	0	0	0	0	0.0125	0.0010802	167	154602	rs200874428	0.0005	0.0006	0.0003	0.0008	0.0086	0.0005	0.0005	0.0080	0.0078	3.041e-05	0	0	7.606e-05	0	0.0009	2.103e-05	0.0007	0.0086	0.0003	0.0003	0.0002	0.0004	0.0087	0.0002	0.0002	0.0066	0.0059	0	0	0	0	0	0	0	1.47e-05	0	0.0087	0.002	0.72154	D	0.005	0.72224	D	0.797	0.44809	P	0.478	0.47030	P	0.003248	0.35212	N	0.317119	0.999978	0.53665	D	1.15	0.29295	L	0.93	0.44065	T	-3.62	0.70067	D	0.281	0.31814	-0.8786	0.49872	T	0.145	0.46768	T	10	0.009866387	0.00221	T	.	.	.	0.223	0.52023	.	.	0.19168177325	0.18762	0.4964310023112478	0.49564	1.60464414724	0.88762	0.273338377476	0.06580	T	0.468271	0.80227	T	-0.451379	0.01109	T	-0.415036	0.31646	T	0.152521839510794	0.17303	T	0.785621	0.42343	T	0.26371378	0.49437	0.41442898	0.65587	0.26371378	0.49437	0.41442898	0.65587	-8.654	0.65444	D	.	.	0.116	0.28492	B	.;.;.;.	.;.;.;.	4.608015	0.73054	25.9	0.99924648409997918	0.98980	0.97546	0.75457	D	AEFDBI	0.891238	0.82701	D	0.526251616068139	0.68648	5.246107	0.579373220131971	0.73461	5.974507	0.999999999100917	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.608884	0.39905	0	0.735409	0.98432	0	.	.	5.53	5.53	0.82530	5.968000	0.70121	7.542000	0.60105	0.676000	0.76740	0.973000	0.34540	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.8518:0.1482	14.327	0.66086	177	0.93145	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1769.33	33	chr5	133990901	.	G	A	1769.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.667;DP=760;ExcessHet=0;FS=5.303;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.37;ReadPosRankSum=-1.014;SOR=0.369	GT:AD:DP:GQ:PL	0/1:74,69:143:99:1783,0,1836	18	0	1	0
chr5	134666907	134666907	G	A	exonic	SEC24A	.	nonsynonymous SNV	SEC24A:NM_001252231:exon3:c.G650A:p.G217D,SEC24A:NM_021982:exon3:c.G650A:p.G217D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.0195573298576	.	.	.	.	.	.	.	.	.	.	.	.	.	rs900074473	1.368e-06	2.052e-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	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	0.007	0.78490	D	0.096	0.39340	T	0.986	0.61523	D	0.722	0.54942	P	0.007685	0.31251	N	0.275476	0.974687	0.39125	D	2.2	0.62015	M	1.04	0.50976	T	-1.17	0.34397	N	0.547	0.58713	-0.9586	0.39442	T	0.149	0.47610	T	10	0.44981182	0.58627	T	0.019557	0.41954	T	0.125	0.34456	0.258	0.20002	0.661741415227	0.65890	0.4590731741267711	0.45825	0.235260826517	0.26052	0.493867993355	0.37976	T	0.031414	0.22029	T	-0.0533159	0.43943	T	-0.314361	0.43190	T	0.359297921391486	0.27382	T	0.787921	0.44963	T	0.06715363	0.14514	0.09642072	0.22910	0.06715363	0.14514	0.09642072	0.22909	-8.021	0.61213	D	.	.	0.138	0.38190	B	.;.	.;.	2.539199	0.32847	19.16	0.98943938378186969	0.48997	0.83467	0.42582	D	AEFBI	0.168972	0.29577	N	-0.119982742354676	0.36523	2.11229	-0.184909937667438	0.32090	1.822302	0.7714359398896	0.23678	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.635551	0.53088	0	.	.	4.94	2.1	0.26226	1.593000	0.36297	.	.	-0.177000	0.10537	1.000000	0.71638	1.000000	0.68203	0.203000	0.21983	0.0744:0.3219:0.6037:0.0	9.95	0.40804	813	0.42397	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2034.33	33	chr5	134666907	.	G	A	2034.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.41;DP=764;ExcessHet=0;FS=7.582;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.23;ReadPosRankSum=-0.16;SOR=1.317	GT:AD:DP:GQ:PL	0/1:68,75:143:99:2048,0,1611	18	0	1	0
chr5	137661998	137661998	C	T	exonic	KLHL3	.	nonsynonymous SNV	KLHL3:NM_001257195:exon5:c.G424A:p.E142K,KLHL3:NM_001257194:exon7:c.G574A:p.E192K,KLHL3:NM_017415:exon7:c.G670A:p.E224K	Pseudohypoaldosteronism, type IID, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.307	0.0279986792812	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.72154	D	0.028	0.74150	D	0.607	0.39488	P	0.393	0.44248	B	0.000006	0.62929	D	0.107097	0.999993	0.58761	D	1.06	0.26948	L	-0.34	0.68474	T	-2.75	0.58896	D	0.353	0.39457	-0.5476	0.66877	T	0.242	0.61024	T	10	0.69816285	0.72274	D	0.027999	0.50737	D	0.307	0.62838	0.756	0.88567	0.444038270253	0.44025	0.5486992528084579	0.54795	1.00681914297	0.74604	0.750348925591	0.74498	T	0.441932	0.78628	T	0.0288071	0.55564	T	-0.196397	0.54988	T	0.981353640556335	0.73864	D	0.971903	0.89805	D	0.69282883	0.77665	0.5602086	0.74555	0.69282883	0.77667	0.5602086	0.74556	-6.701	0.51818	T	0.18940643255798573	0.24776	0.204	0.49275	B	.;.;.;.	.;.;.;.	4.582324	0.72403	25.8	0.99869605679425488	0.94726	0.92722	0.56386	D	AEFDBI	0.599478	0.59248	D	0.303285330720668	0.56318	3.796225	0.414390485053886	0.62461	4.461821	0.99999990586261	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.99	4.99	0.65942	5.003000	0.63708	7.569000	0.60664	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.830	0.92103	70	0.97015	.;.;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	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1072.33	34	chr5	137661998	.	C	T	1072.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.545;DP=727;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.41;ReadPosRankSum=1.14;SOR=0.781	GT:AD:DP:GQ:PL	0/1:47,47:94:99:1086,0,1121	18	0	1	0
chr5	138341242	138341242	G	T	exonic	FAM53C	.	nonsynonymous SNV	FAM53C:NM_001350195:exon2:c.G26T:p.G9V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.116e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	0.06	0.06253	N	.	.	-0.2829	0.75461	T	0.352	0.71588	T	5	0.17147532	0.31868	T	.	.	.	0.309	0.63055	0.29	0.25081	0.0934897674506	0.08844	.	.	.	.	.	.	.	0.008317	0.07645	T	-0.0691335	0.41466	T	-0.337082	0.40675	T	0.321016578817998	0.25863	T	0.293371	0.05395	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.36986	B	.	.	2.461912	0.31716	18.83	0.91642766821509958	0.20930	0.83009	0.42165	D	AEFDBCI	0.441177	0.49943	N	0.128617373747993	0.47801	3.00083	0.195308317492355	0.49590	3.16031	0.999999716081809	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.35	4.47	0.53770	2.400000	0.44157	8.416000	0.77138	-0.153000	0.12021	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.8384:0.1616	13.033	0.58263	343	0.85802	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	748.33	35	chr5	138341242	.	G	T	748.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.495;DP=678;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=-0.134;SOR=0.617	GT:AD:DP:GQ:PL	0/1:23,25:48:99:762,0,686	18	0	1	0
chr5	140788503	140788503	C	T	exonic	PCDHA1	.	nonsynonymous SNV	PCDHA1:NM_018900:exon1:c.C2213T:p.T738I,PCDHA1:NM_031410:exon1:c.C2213T:p.T738I	.	423	1060	38	1	0	40	0.0185185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	.	0.0058	0.00479233	0.0063	0.0010	0.0022	0	0.0011	0.0082	0.0088	0.0101	0.0060995	943	154602	rs13176401	0.0070	0.0070	0.0068	0.0072	0.0123	0.0069	0.0069	0.0104	0.0102	0.0011	0.0027	0.0242	5.038e-05	0.0007	0.0123	0.0072	0.0074	0.0110	0.0053	0.0053	0.0060	0.0046	0.0073	0.0050	0.0049	0.0068	0.0066	0.0015	0	0.0063	0.0262	0.0004	0.0008	0.0102	0.0073	0.0071	0.0072	0.026	0.46910	D	0.289	0.21078	T	0.079	0.31497	B	0.135	0.33210	B	0.377027	0.04397	U	1.564530	1	0.08975	N	2.98	0.85499	M	2.69	0.12268	T	-3.01	0.64246	D	0.094	0.24758	-1.0051	0.28427	T	0.023	0.09650	T	10	0.0038641095	0.00073	T	.	.	.	0.041	0.10877	.	.	0.146414634003	0.14194	0.4992395497059017	0.49844	0.509160944495	0.49056	.	.	.	0.330682	0.70084	T	-0.653046	0.00069	T	-0.70287	0.05670	T	0.0360362763197902	0.02986	T	0.877312	0.59062	D	0.068108805	0.14811	0.1010875	0.24189	0.068108805	0.14811	0.1010875	0.24188	-5.73	0.46687	T	.	.	0.117	0.23605	B	.;.	.;.	0.117301	0.05153	1.676	0.90841325934908235	0.20090	0.01400	0.04746	N	AEFDBI	0.057516	0.10720	N	-1.38394634931916	0.02788	0.1236151	-1.60201900919824	0.01643	0.07457226	0.881550449451469	0.25634	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	4.16	-6.43	0.01754	-2.791000	0.00837	.	.	-0.896000	0.02358	0.000000	0.06391	0.000000	0.08366	0.043000	0.14563	0.2076:0.1868:0.4658:0.1398	3.890	0.08619	18	0.98631	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.013595	0.000000	0.014946	0.014620	0.000000	0.000000	0.024390	0.007576	0.05263	5516.83	181	chr5	140788503	.	C	T	5516.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.38;DP=2741;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=2.22;SOR=0.692	GT:AD:DP:GQ:PL	0/1:105,102:207:99:2871,0,2917	17	0	2	0
chr5	140848613	140848613	G	A	exonic	PCDHA9	.	nonsynonymous SNV	PCDHA9:NM_014005:exon1:c.G118A:p.E40K,PCDHA9:NM_031857:exon1:c.G118A:p.E40K	.	442	1033	39	8	0	55	0.0259312	.	.	.	3206704	PCDHA9-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.052	.	.	0.0071885	0.0074	0.0009	0.0061	0.0002	0.0014	0.0089	0.0090	0.0120	0.0013831	36	26028	rs147099629	0.0023	0.0049	0.0021	0.0026	0.0088	0.0023	0.0023	0.0068	0.0061	0.0007	0.0027	0.0133	0.0001	0.0011	0.0088	0.0018	0.0042	0.0063	0.0060	0.0077	0.0066	0.0053	0.0165	0.0056	0.0055	0.0136	0.0125	0.0012	0.0011	0.0078	0.0220	0	0.0011	0.0243	0.0081	0.0082	0.0165	1.0	0.00964	T	1.0	0.01155	T	0.0	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.81001	D	-0.23	0.03940	N	1.58	0.29085	T	3.13	0.00124	N	0.075	0.04913	-0.9802	0.34955	T	0.012	0.04510	T	9	0.0044157207	0.00090	T	.	.	.	0.052	0.14661	.	.	0.234412748748	0.23057	0.5052483064863803	0.50446	.	.	.	.	.	0.001452	0.00908	T	-0.333893	0.05823	T	-0.71739	0.04923	T	0.0084557951795491	0.00102	T	0.563244	0.19836	T	0.0642428	0.13609	0.09128216	0.21453	0.0642428	0.13609	0.09128216	0.21452	2.727	0.00027	T	.	.	0.046	0.00059	B	.;.	.;.	1.464343	0.18873	13.97	0.89844929437015786	0.19152	0.02988	0.07843	N	AEFDBCI	0.041598	0.06346	N	-1.19300097945347	0.05105	0.2319599	-1.04312973743705	0.08850	0.4372199	2.36115250011173E-5	0.03498	0.553676	0.25195	0	0.588015	0.36545	0	0.576033	0.28219	0	0.584449	0.35598	0	.	.	3.73	2.52	0.29514	-0.511000	0.06404	.	.	-0.096000	0.16002	0.000000	0.06391	0.000000	0.08366	0.432000	0.27494	0.5631:0.274:0.1628:0.0	5.411	0.15649	32	0.98147	Cadherin, N-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.1053	4116.41	162	chr5	140848613	.	G	A	4116.41	.	AC=4;AF=0.105;AN=38;BaseQRankSum=5.12;DP=2163;ExcessHet=0.0101;FS=19.807;InbreedingCoeff=0.4412;MLEAC=4;MLEAF=0.105;MQ=58.58;MQRankSum=-6.383;QD=12.18;ReadPosRankSum=1.31;SOR=0.614	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:117,25:142:99:0|1:140848597_C_G:698,0,4838:140848597	16	1	2	0
chr5	140848623	140848623	C	A	exonic	PCDHA9	.	nonsynonymous SNV	PCDHA9:NM_014005:exon1:c.C128A:p.T43N,PCDHA9:NM_031857:exon1:c.C128A:p.T43N	.	443	1034	37	8	0	53	0.0249882	.	.	.	2708536	not_specified|PCDHA9-related_disorder	MedGen:CN169374|.	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.160	.	0.0007	.	0.0065	0.0007	0.0050	0.0002	0.0012	0.0079	0.0090	0.0106	0.0010373	27	26028	rs186780543	0.0020	0.0040	0.0019	0.0022	0.0078	0.0020	0.0020	0.0059	0.0053	0.0005	0.0023	0.0118	0.0001	0.0010	0.0078	0.0016	0.0037	0.0049	0.0054	0.0076	0.0059	0.0049	0.0155	0.0051	0.0050	0.0126	0.0116	0.0008	0.0011	0.0072	0.0208	0	0.0011	0.0210	0.0074	0.0082	0.0155	0.01	0.57480	D	0.007	0.69154	D	0.02	0.21357	B	0.066	0.27432	B	.	.	.	.	1	0.81001	D	3.795	0.95366	H	0.86	0.46777	T	-4.79	0.80682	D	0.492	0.52563	-0.4510	0.70367	T	0.158	0.49043	T	9	0.010096908	0.00226	T	.	.	.	0.160	0.41473	.	.	0.657190473102	0.65432	0.714719429081555	0.71414	.	.	.	.	.	0.05186	0.28997	T	-0.0681011	0.41629	T	-0.335599	0.40841	T	0.188936567630157	0.19782	T	0.706229	0.32195	T	0.86958146	0.88828	0.8837174	0.93823	0.86958146	0.88830	0.8837174	0.93823	-12.312	0.86338	D	.	.	0.168	0.39865	B	.;.	.;.	3.811784	0.54986	23.6	0.98409677605635093	0.41159	0.70468	0.34603	D	AEFDBCI	0.520398	0.54527	D	-0.0215671095811526	0.40880	2.43543	-0.0540870625360181	0.37315	2.183088	0.999957572808903	0.48110	0.553676	0.25195	0	0.588015	0.36545	0	0.491614	0.08109	1	0.584449	0.35598	0	.	.	3.73	3.73	0.41982	2.076000	0.41172	.	.	0.545000	0.25583	0.003000	0.16062	0.000000	0.08366	0.779000	0.36868	0.0:1.0:0.0:0.0	16.078	0.80787	32	0.98147	Cadherin, N-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005076	0.000000	0.005510	0.000000	0.000000	0.000000	0.012346	0.007576	0.1053	3598.41	162	chr5	140848623	.	C	A	3598.41	.	AC=4;AF=0.105;AN=38;BaseQRankSum=3.37;DP=2156;ExcessHet=0.0101;FS=13.882;InbreedingCoeff=0.4412;MLEAC=4;MLEAF=0.105;MQ=58.55;MQRankSum=-7.135;QD=10.94;ReadPosRankSum=-0.588;SOR=0.629	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:118,23:141:99:0|1:140848597_C_G:611,0,4851:140848597	16	1	2	0
chr5	141137679	141137679	C	A	exonic	PCDHB5	.	nonsynonymous SNV	PCDHB5:NM_015669:exon1:c.C2245A:p.H749N	.	401	1113	8	0	0	8	0.00358102	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	0.00918555014592	.	.	0.0002	0	0	0	0	0.0002	0	0.0004	0.0001294	20	154602	rs782616149	0.0001	0.0001	8.576e-05	0.0001	0.0005	0.0001	9.767e-05	0.0004	0.0003	2.987e-05	2.236e-05	0.0004	0	0	0.0005	9.622e-05	9.934e-05	0.0005	0.0001	0.0001	0.0001	0.0001	0.0006	8.161e-05	6.718e-05	0.0002	9.896e-05	2.404e-05	0	0	0.0003	0	0	0	0.0002	0	0.0006	0.001	0.78490	D	0.464	0.12456	T	.	.	.	.	.	.	.	.	.	.	0.999995	0.08975	N	.	.	.	0.83	0.47815	T	-0.02	0.07299	N	0.058	0.02964	-1.0605	0.11632	T	0.061	0.25492	T	9	0.07078919	0.10347	T	0.009186	0.24154	T	0.193	0.47281	.	.	0.372087925617	0.36815	0.124949098813865	0.12420	0.288833652851	0.31292	0.455118775368	0.32643	T	.	.	.	-0.535034	0.00359	T	-0.678355	0.07084	T	0.061992145496863	0.07479	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.11414	B	.	.	2.455745	0.31631	18.80	0.79443278750395696	0.12744	0.10812	0.16209	N	AEFBI	0.101539	0.20391	N	-0.65459406726655	0.17327	0.8906324	-0.532277929206989	0.21279	1.150355	0.00182713264600045	0.08920	0.553676	0.25195	0	0.547309	0.14657	0	0.489635	0.07774	0	0.620846	0.47308	0	.	.	4.56	4.56	0.55644	-0.015000	0.12572	.	.	0.499000	0.22661	0.000000	0.06391	0.000000	0.08366	0.842000	0.39752	0.0:0.7762:0.1431:0.0807	9.699	0.39341	554	0.71839	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	3818.33	35	chr5	141137679	.	C	A	3818.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.15;DP=1048;ExcessHet=0;FS=1.312;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.64;ReadPosRankSum=0.866;SOR=0.789	GT:AD:DP:GQ:PL	0/1:178,150:328:99:3832,0,4405	18	0	1	0
chr5	141174246	141174246	G	C	exonic	PCDHB7	.	nonsynonymous SNV	PCDHB7:NM_018940:exon1:c.G1411C:p.G471R	.	361	1128	33	0	0	33	0.0144168	.	.	.	2825306	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.109	0.0164363675078	0.0031	0.00239617	0.0041	0.0005	0.0012	0	0.0014	0.0046	0.0055	0.0091	0.0036934	571	154602	rs71583630	0.0039	0.0039	0.0036	0.0042	0.0114	0.0038	0.0038	0.0090	0.0082	0.0009	0.0011	0.0103	2.519e-05	0.0020	0.0114	0.0037	0.0039	0.0089	0.0028	0.0028	0.0030	0.0026	0.0077	0.0026	0.0025	0.0057	0.0050	0.0006	0	0.0015	0.0092	0.0004	0.0013	0.0068	0.0041	0.0038	0.0077	0.008	0.58626	D	0.193	0.28210	T	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	1	0.08975	N	2.305	0.65957	M	3.61	0.04446	T	-7.82	0.95977	D	0.753	0.75192	-1.0933	0.05005	T	0.041	0.17488	T	9	0.014421403	0.00303	T	0.016436	0.37697	T	0.109	0.30843	.	.	0.501247319706	0.49760	0.39475670066175056	0.39390	0.497184019327	0.48212	0.66754424572	0.62487	T	0.103401	0.41202	T	-0.483557	0.00705	T	-0.461541	0.26431	T	0.0499114695675841	0.05485	T	0.814619	0.46840	T	0.659269	0.75860	0.68884367	0.81695	0.659269	0.75861	0.68884367	0.81696	-11.661	0.83161	D	.	.	0.732	0.74304	P	.	.	3.083277	0.41486	21.4	0.99835576582851426	0.91714	0.14876	0.18631	N	AEFDBI	0.129794	0.24810	N	0.345615472362603	0.58507	4.023498	0.187762801501309	0.49175	3.12396	0.0762146898005401	0.15720	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.44	3.56	0.39892	0.522000	0.22617	.	.	0.667000	0.69007	0.001000	0.13787	0.000000	0.08366	0.893000	0.43066	0.0857:0.0:0.7537:0.1606	7.711	0.27845	654	0.62520	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	.	.	.	.	.	.	.	.	0.02632	3391.33	187	chr5	141174246	.	G	C	3391.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.09;DP=3993;ExcessHet=0;FS=2.484;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.95;MQRankSum=-1.08;QD=11.19;ReadPosRankSum=-1.19;SOR=0.808	GT:AD:DP:GQ:PL	0/1:164,139:303:99:3405,0,3779	18	0	1	0
chr5	141303079	141303079	C	G	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.G787C:p.V263L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.00909780768334	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.611e-06	0.0012	9.648e-06	5.557e-06	9.117e-06	4.08e-06	2.99e-06	4.61e-06	3.36e-06	0	0	3.841e-05	0	0	0	9.117e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.865	0.02639	T	0.669	0.06325	T	0.0	0.02946	B	0.001	0.04355	B	0.940851	0.07593	N	1.028430	0.99999	0.08975	N	-1.395	0.00601	N	-1.1	0.77336	T	0.91	0.01595	N	0.015	0.00181	-1.0189	0.24074	T	0.099	0.36957	T	10	0.04655108	0.03861	T	0.009098	0.23941	T	0.146	0.38789	0.353	0.35246	0.307966526162	0.30417	0.15140888837097558	0.15062	0.179086514007	0.20148	0.295074403286	0.09668	T	0.158211	0.50113	T	-0.262078	0.12658	T	-0.614233	0.11644	T	0.0472256252312583	0.05005	T	0.090191	0.00668	T	0.05519885	0.10696	0.03909303	0.03923	0.05519885	0.10696	0.03909303	0.03923	-0.632	0.00670	T	.	.	0.081	0.08129	B	.	.	0.911050	0.12853	9.367	0.29972271365944797	0.01616	0.36561	0.25561	N	AEFDBI	0.079883	0.16143	N	-1.27563492994376	0.03971	0.1783734	-1.17336112797431	0.06358	0.3057852	0.0027045709993126	0.09647	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.79	-1.96	0.07113	0.290000	0.18731	.	.	-0.219000	0.08017	0.857000	0.30561	0.000000	0.08366	0.938000	0.47775	0.1892:0.2274:0.2747:0.3086	0.421	0.00425	508	0.75398	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4706	14014.1	269	chr5	141303079	.	C	G	14014.1	.	AC=16;AF=0.471;AN=34;BaseQRankSum=-5.32;DP=3969;ExcessHet=25.4433;FS=253.579;InbreedingCoeff=-0.8095;MLEAC=16;MLEAF=0.471;MQ=60;MQRankSum=0;QD=4.49;ReadPosRankSum=1.54;SOR=13.726	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:151,56:218:99:.:.:1014,0,3380:.	1	0	16	2
chr5	141303081	141303081	A	G	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.T785C:p.I262T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304	0.0473896448522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.057e-05	0.0052	9.083e-05	7.061e-05	9.408e-05	6.666e-05	6.17e-05	7.637e-05	7.056e-05	7.663e-05	2.352e-05	9.167e-05	0	0	0	9.408e-05	0.0001	3.753e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.012	0.63918	D	0.031	0.20130	B	0.072	0.28043	B	0.002026	0.37411	N	0.228449	0.664955	0.33087	D	2.495	0.72670	M	-1.43	0.80730	T	-3.37	0.66665	D	0.15	0.15328	-0.2969	0.75071	T	0.436	0.77580	T	10	0.32646608	0.49943	T	0.04739	0.62897	D	0.304	0.62510	0.714	0.84962	0.796736975761	0.79484	0.3777484127299112	0.37689	0.256540601776	0.28227	0.559880197048	0.47250	T	0.479583	0.80893	T	-0.0449841	0.45207	T	-0.302393	0.44473	T	0.91609662771225	0.57338	D	0.873613	0.58243	D	0.3416271	0.56408	0.3380717	0.59590	0.3416271	0.56408	0.3380717	0.59589	-5.782	0.44417	T	.	.	0.170	0.37388	B	.	.	3.362138	0.46425	22.3	0.97252123840185223	0.33047	0.90378	0.51506	D	AEFDBI	0.134760	0.25488	N	-0.253584900046592	0.30961	1.73137	-0.254588989580657	0.29613	1.660522	0.0034441891907943	0.10119	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.79	1.42	0.21524	2.856000	0.48040	.	.	0.751000	0.87719	0.966000	0.33990	0.265000	0.24010	0.967000	0.53440	0.789:0.0:0.211:0.0	6.656	0.22177	508	0.75398	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4737	19266.3	284	chr5	141303081	.	A	G	19266.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-3.62;DP=4066;ExcessHet=38.2876;FS=254.572;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=5.08;ReadPosRankSum=1.37;SOR=14.095	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:167,63:230:99:.:.:550,0,5159:.	1	0	18	0
chr5	141400463	141400463	A	G	exonic	PCDHGB5	.	nonsynonymous SNV	PCDHGB5:NM_018925:exon1:c.A2336G:p.D779G,PCDHGB5:NM_032099:exon1:c.A2336G:p.D779G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.065e-06	5.274e-05	1.371e-06	2.765e-06	2.718e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.718e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.44302	T	0.009	0.15093	B	0.029	0.21540	B	.	.	.	.	1	0.81001	D	1.51	0.38214	L	.	.	.	.	.	.	0.241	0.34659	.	.	.	.	.	.	.	0.20647642	0.36910	T	.	.	.	.	.	.	.	0.567858160113	0.56450	0.27775437007942005	0.27688	.	.	.	.	.	0.07356	0.34727	T	0.118978	0.66270	D	-0.0668731	0.65849	T	.	.	.	0.475152	0.14192	T	0.18996084	0.40560	0.40470845	0.64891	0.18996084	0.40560	0.40470845	0.64891	-4.16	0.26766	T	.	.	0.089	0.12323	B	.;.	.;.	3.615017	0.51130	23.0	0.70790902653605781	0.09412	0.84947	0.44044	D	AEFDBHCI	.	.	.	.	.	.	.	.	.	0.999600704005591	0.40866	0.090766	0.02384	0	0.097471	0.02872	0	0.129117	0.03641	0	0.023427	0.00073	3	0.343073	0.36021	5.25	5.25	0.73169	2.964000	0.48885	.	.	0.751000	0.87719	1.000000	0.71638	0.999000	0.35428	0.831000	0.39176	0.9146:0.0:0.0854:0.0	9.287	0.36925	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2895	2841.21	42	chr5	141400463	.	A	G	2841.21	.	AC=11;AF=0.289;AN=38;BaseQRankSum=-7.16;DP=3945;ExcessHet=8.9063;FS=248.932;InbreedingCoeff=-0.4075;MLEAC=11;MLEAF=0.289;MQ=59.99;MQRankSum=0;QD=0.91;ReadPosRankSum=0.68;SOR=13.863	GT:AD:DP:GQ:PL	0/1:209,68:277:44:44,0,4800	8	0	11	0
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	0.05263	2870.83	35	chr5	147828053	.	G	A	2870.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.29;DP=807;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.87;ReadPosRankSum=2.07;SOR=0.726	GT:AD:DP:GQ:PL	0/1:56,58:114:99:1407,0,1320	17	0	2	0
chr5	149027919	149027919	G	A	exonic	SH3TC2	.	nonsynonymous SNV	SH3TC2:NM_024577:exon11:c.C1813T:p.R605C	Charcot-Marie-Tooth disease, type 4C, Autosomal recessive;Mononeuropathy of the median nerve, mild, Autosomal dominant	0	1520	2	0	0	2	0.000657462	.	.	.	682993	Charcot-Marie-Tooth_disease|Charcot-Marie-Tooth_disease_type_4|Inborn_genetic_diseases	MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166|MONDO:MONDO:0018995,MedGen:C4082197,Orphanet:64749|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.211	0.0809683124471	.	.	1.653e-05	0	8.645e-05	0	0	1.505e-05	0	0	1.29e-05	2	154602	rs778936762	2.052e-05	2.052e-05	1.906e-05	2.2e-05	0.0002	1.456e-05	1.264e-05	5.849e-05	3.758e-05	0.0001	0	0	0	0	0.0002	9.892e-06	9.934e-05	8.115e-05	1.314e-05	1.313e-05	0	2.69e-05	4.823e-05	2.18e-06	8.2e-07	7.99e-06	2.99e-06	4.823e-05	0	0	0	0	0	0	0	0	0	0.004	0.65419	D	0.215	0.26306	T	0.997	0.70673	D	0.614	0.51198	P	0.062451	0.22097	N	0.499855	0.995649	0.23238	N	1.59	0.40313	L	-0.25	0.67011	T	-1.28	0.32185	N	0.353	0.40164	-0.8172	0.54109	T	0.238	0.60535	T	10	0.3426082	0.51289	T	0.080968	0.73579	D	0.211	0.50185	0.615	0.74884	0.833541382194	0.83195	0.2751183875176259	0.27424	0.202593536193	0.22681	0.240893498063	0.02871	T	0.117394	0.43745	T	-0.227634	0.16963	T	-0.328088	0.41681	T	0.370238393545151	0.27806	T	0.893211	0.63049	D	0.12457294	0.29224	0.08722421	0.20261	0.12457294	0.29224	0.08722421	0.20260	-5.184	0.39466	T	0.0693069268108061	0.02587	0.100	0.17700	B	.;.	.;.	4.449677	0.69162	25.3	0.99862609854475104	0.94093	0.94601	0.61699	D	AEFBI	0.789647	0.71878	D	0.167225876328552	0.49629	3.161294	0.190843216110881	0.49344	3.138719	0.999783761818744	0.43007	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.491896	0.07777	0	.	.	6.04	3.18	0.35615	6.754000	0.74705	6.464000	0.55700	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.420000	0.27228	0.1334:0.1211:0.7455:0.0	10.660	0.44892	783	0.47268	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.02632	1285.33	34	chr5	149027919	.	G	A	1285.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.15;DP=856;ExcessHet=0;FS=1.654;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.6;ReadPosRankSum=0.878;SOR=0.532	GT:AD:DP:GQ:PL	0/1:54,48:102:99:1299,0,1267	18	0	1	0
chr5	152392384	152392384	T	G	exonic	NMUR2	.	nonsynonymous SNV	NMUR2:NM_020167:exon4:c.A1055C:p.Q352P	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.0195761007887	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	0.24468	T	0.105	0.38016	T	0.261	0.31520	B	0.135	0.33210	B	0.917679	0.08509	N	0.951375	1	0.08975	N	1.585	0.39878	L	1.23	0.36872	T	-0.71	0.20145	N	0.241	0.27197	-0.9899	0.32626	T	0.078	0.31012	T	10	0.10759333	0.19992	T	0.019576	0.41979	T	0.074	0.21613	0.292	0.25400	0.26547132957	0.26150	0.39707349818675414	0.39622	0.36578637288	0.38167	0.221009135246	0.01369	T	0.039484	0.25206	T	-0.150082	0.28300	T	-0.453359	0.27327	T	0.107382947119919	0.13150	T	0.470053	0.13899	T	0.123044915	0.28901	0.12051837	0.29084	0.123044915	0.28901	0.12051837	0.29083	-3.312	0.13893	T	.	.	0.062	0.01367	B	.	.	1.145750	0.15336	11.77	0.88156411314030114	0.17759	0.22549	0.21783	N	AEFBI	0.226502	0.35044	N	-0.785818331351954	0.13679	0.6756008	-0.869666087903934	0.12815	0.6614243	1.74573974114398E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.57	-0.71	0.10668	1.284000	0.32855	-0.009000	0.13087	0.609000	0.47794	0.468000	0.26706	0.000000	0.08366	0.298000	0.24452	0.0:0.3381:0.0:0.6619	8.546	0.32582	907	0.22727	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	4283.81	37	chr5	152392384	.	T	G	4283.81	.	AC=2;AF=0.053;AN=38;DP=1044;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.6;SOR=0.91	GT:AD:DP:GQ:PL	1/1:0,140:140:99:4311,419,0	18	1	0	0
chr5	154834880	154834880	G	C	exonic	FAXDC2	.	nonsynonymous SNV	FAXDC2:NM_032385:exon3:c.C103G:p.L35V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.0225774624919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.51e-05	8.073e-05	1.775e-05	1.243e-05	5.991e-05	9.89e-06	8.44e-06	1.015e-05	8.37e-06	5.991e-05	0	0	0	0	0	1.624e-05	3.321e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	0.22660	T	0.192	0.28300	T	0.741	0.42992	P	0.178	0.35748	B	0.000062	0.52346	D	0.127254	0.999577	0.47641	D	2.33	0.66821	M	0.11	0.61208	T	-1.43	0.42575	N	0.476	0.55280	-0.7898	0.55741	T	0.177	0.52272	T	10	0.3608216	0.52717	T	0.022577	0.45482	T	0.128	0.35103	0.368	0.37687	0.50685403127	0.50322	0.5472392752767269	0.54649	0.565306047963	0.52874	0.427203059196	0.28826	T	0.006447	0.05881	T	-0.0350922	0.46673	T	-0.288184	0.45962	T	0.975553870201111	0.70985	D	0.824718	0.55237	T	0.1653164	0.36795	0.16677296	0.38511	0.1653164	0.36795	0.16677296	0.38510	-4.327	0.28554	T	.	.	0.122	0.45149	B	.;.;.;.;.	.;.;.;.;.	3.205176	0.43602	21.8	0.99783212881991934	0.86955	0.93639	0.58770	D	AEFDGBHCI	0.839166	0.75660	D	0.282525933287588	0.55260	3.690427	0.346314316601126	0.58285	3.998306	0.999999999999752	0.74766	0.536635	0.22144	0	0.546412	0.12157	0	0.489635	0.07774	0	0.322989	0.05693	1	.	.	6.04	5.18	0.71140	4.974000	0.63486	8.428000	0.77165	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.933000	0.47100	0.0681:0.0:0.9319:0.0	15.162	0.72472	879	0.29470	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3889	2926.77	122	chr5	154834880	.	G	C	2926.77	.	AC=14;AF=0.389;AN=36;BaseQRankSum=-3.509;DP=2450;ExcessHet=17.0548;FS=265.035;InbreedingCoeff=-0.631;MLEAC=15;MLEAF=0.417;MQ=60;MQRankSum=0;QD=1.67;ReadPosRankSum=1.04;SOR=12.969	GT:AD:DP:GQ:PL	0/1:72,32:115:65:65,0,1635	4	0	14	1
chr5	157052557	157052557	C	0	exonic	HAVCR1	.	.	.	.	1	2	91	30	102	253	0.974194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5556	128065.0	769	chr5	157052557	.	C	*	128065.0	.	AC=20;AF=0.556;AN=36;BaseQRankSum=0.778;DP=10426;ExcessHet=0.1504;FS=0;InbreedingCoeff=0.0434;MLEAC=21;MLEAF=0.583;MQ=60;MQRankSum=0;QD=14.25;ReadPosRankSum=-0.521;SOR=0.686	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,433:433:99:.:.:19271,1313,0:.	5	7	6	1
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	0.05263	3232.81	36	chr5	159323321	.	C	T	3232.81	.	AC=2;AF=0.053;AN=38;DP=744;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=32.01;SOR=0.839	GT:AD:DP:GQ:PL	1/1:0,101:101:99:3260,303,0	18	1	0	0
chr5	173163797	173163797	G	A	exonic	BNIP1	.	nonsynonymous SNV	BNIP1:NM_013978:exon5:c.G461A:p.R154Q,BNIP1:NM_001205:exon6:c.G563A:p.R188Q,BNIP1:NM_013980:exon6:c.G590A:p.R197Q,BNIP1:NM_013979:exon7:c.G692A:p.R231Q	.	.	.	.	.	.	.	.	.	.	.	3424048	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.317	0.0259122725665	0.0002	.	5.771e-05	0.0003	0	0.0005	0	0	0	0	5.17e-05	8	154602	rs148150409	2.6e-05	2.668e-05	2.315e-05	2.888e-05	0.0005	1.933e-05	1.692e-05	0.0003	0.0003	5.975e-05	0	0	0.0005	0	0	1.439e-05	1.656e-05	0	3.286e-05	3.283e-05	3.854e-05	2.69e-05	0.0004	1.261e-05	7.98e-06	6.818e-05	2.854e-05	4.826e-05	0	0	0	0.0004	0	0	1.47e-05	0	0	0.235	0.30235	T	0.019	0.59159	D	0.999	0.90584	D	0.953	0.69275	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.685	0.78553	M	0.78	0.49358	T	-1.25	0.33798	N	0.789	0.82057	-0.5952	0.65012	T	0.308	0.67858	T	10	0.50143564	0.61571	D	0.025912	0.48854	D	0.317	0.63904	.	.	0.728531110816	0.72611	0.7927313478017146	0.79226	0.49789207699	0.48277	0.844060897827	0.88714	D	0.117463	0.43756	T	-0.0714789	0.41088	T	0.0667739	0.74696	D	0.170805285005056	0.18634	T	0.979402	0.93421	D	0.19969715	0.41918	0.2236924	0.47256	0.19969715	0.41918	0.2236924	0.47255	-10.263	0.75554	D	.	.	0.170	0.42156	B	.;.;.;.	.;.;.;.	5.466366	0.91221	32	0.99935852265440106	0.99621	0.99095	0.91152	D	AEFGBI	0.879408	0.80533	D	0.807262702009112	0.86560	8.924321	0.788064945981029	0.88950	9.779542	0.999999995488063	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.75	5.75	0.90390	9.602000	0.97623	11.766000	0.95743	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:0.0:1.0:0.0	19.947	0.97186	964	0.07719	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1550.33	36	chr5	173163797	.	G	A	1550.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.81;DP=773;ExcessHet=0;FS=3.093;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.07;ReadPosRankSum=1.4;SOR=0.99	GT:AD:DP:GQ:PL	0/1:79,61:140:99:1564,0,1809	18	0	1	0
chr5	179774297	179774297	C	T	exonic	MAML1	.	nonsynonymous SNV	MAML1:NM_014757:exon5:c.C2471T:p.P824L	.	425	1069	25	3	0	31	0.0142923	.	.	.	699038	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.042	.	0.0081	0.00379393	0.0079	0.0021	0.0049	0.0001	0.0089	0.0121	0.0079	0.0010	0.0082729	1279	154602	rs61753466	0.0099	0.0099	0.0101	0.0096	0.0139	0.0097	0.0097	0.0114	0.0112	0.0016	0.0051	0.0084	0.0019	0.0077	0.0139	0.0114	0.0089	0.0013	0.0073	0.0073	0.0079	0.0067	0.0115	0.0069	0.0068	0.0109	0.0106	0.0020	0.0077	0.0054	0.0061	0.0002	0.0091	0.0272	0.0115	0.0090	0.0010	0.016	0.51853	D	0.141	0.33442	T	0.14	0.27540	B	0.014	0.16862	B	0.021575	0.26806	N	0.360529	0.90788	0.27569	N	1.1	0.28011	L	1.95	0.22474	T	-1.56	0.37759	N	0.15	0.15328	-1.0499	0.14425	T	0.018	0.07423	T	10	0.0033201277	0.00057	T	.	.	.	0.042	0.11227	.	.	0.110392049598	0.10638	0.21418346042024294	0.21334	0.125099360097	0.14101	0.293613195419	0.09451	T	0.341973	0.71081	T	-0.620466	0.00109	T	-0.652356	0.08790	T	0.0153146781190649	0.00339	T	.	.	.	0.04226435	0.06378	0.052958187	0.08829	0.04226435	0.06377	0.052958187	0.08828	-4.249	0.27455	T	.	.	0.086	0.10594	B	.	.	2.096629	0.26672	17.20	0.8690216223610614	0.16851	0.71167	0.34897	D	AEFDBI	0.034060	0.04154	N	-0.777018038746771	0.13910	0.6887983	-0.664925945783745	0.17841	0.9504084	0.999914810423061	0.45857	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.94	0.661	0.17044	2.383000	0.44008	3.954000	0.40696	-0.136000	0.12710	1.000000	0.71638	0.997000	0.33255	0.108000	0.18652	0.6005:0.3995:0.0:0.0	13.527	0.61057	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	1	0	0.008560	0.020202	0.009511	0.002924	0.000000	0.017241	0.006098	0.003788	0.02632	1812.33	33	chr5	179774297	.	C	T	1812.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.59;DP=777;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.16;ReadPosRankSum=0.098;SOR=0.693	GT:AD:DP:GQ:PL	0/1:64,64:128:99:1826,0,1631	18	0	1	0
chr5	179864106	179864106	T	C	exonic	TBC1D9B	.	nonsynonymous SNV	TBC1D9B:NM_015043:exon21:c.A3044G:p.K1015R,TBC1D9B:NM_198868:exon22:c.A3095G:p.K1032R	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	0.0542172424652	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.99999	0.58761	D	3.05	0.86762	M	0.23	0.59717	T	-2.56	0.55339	D	0.868	0.86511	-0.4088	0.71749	T	0.355	0.71789	T	10	0.6291208	0.68414	D	0.054217	0.65770	D	0.255	0.56562	0.429	0.47680	0.682057204314	0.67935	0.680871286740397	0.68026	0.699373421703	0.61030	0.79964363575	0.81909	T	0.275043	0.64756	T	0.0568837	0.59221	T	-0.156067	0.58704	T	0.996155321598053	0.88774	D	.	.	.	0.2421483	0.47139	0.25457704	0.51126	0.2421483	0.47139	0.25457704	0.51125	-7.712	0.59091	D	.	.	0.218	0.44834	B	.;.;.	.;.;.	4.666572	0.74536	26.2	0.9988666226366919	0.96204	0.98801	0.87029	D	AEFDBI	0.928386	0.91251	D	0.362725258534742	0.59415	4.120685	0.387839806392916	0.60815	4.273378	0.999999911797921	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.711	0.71501	0	.	.	5.36	4.21	0.48984	7.941000	0.87167	7.798000	0.69068	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.074:0.0:0.926	10.790	0.45629	917	0.20147	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1436.33	40	chr5	179864106	.	T	C	1436.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.004;DP=832;ExcessHet=0;FS=1.682;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.3;ReadPosRankSum=-0.768;SOR=0.91	GT:AD:DP:GQ:PL	0/1:55,53:108:99:1450,0,1505	18	0	1	0
chr6	7585852	7585852	T	C	exonic	DSP	.	nonsynonymous SNV	DSP:NM_001008844:exon24:c.T6793C:p.F2265L,DSP:NM_001319034:exon24:c.T7261C:p.F2421L,DSP:NM_004415:exon24:c.T8590C:p.F2864L	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	.	.	.	.	.	.	.	.	.	.	910657	Cardiomyopathy|Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma|Cardiovascular_phenotype|not_provided|Arrhythmogenic_right_ventricular_dysplasia_8|Woolly_hair-skin_fragility_syndrome|Cardiomyopathy,_dilated,_with_wooly_hair,_keratoderma,_and_tooth_agenesis|Lethal_acantholytic_epidermolysis_bullosa|Keratosis_palmoplantaris_striata_2	Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676,Orphanet:65282|MedGen:CN230736|MedGen:C3661900|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MONDO:MONDO:0957307,MedGen:C1843292,OMIM:620415,Orphanet:293165|MONDO:MONDO:0014355,MedGen:C4014393,OMIM:615821,Orphanet:476096,Orphanet:65282|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638,Orphanet:158687|MONDO:MONDO:0013034,MedGen:C1852127,OMIM:612908	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.186	0.0448436694775	.	.	2.525e-05	0.0001	0	0	0	3.073e-05	0	0	1.94e-05	3	154602	rs764514210	2.189e-05	2.189e-05	1.906e-05	2.475e-05	0.0009	1.584e-05	1.356e-05	0.0003	0.0002	0	0	0	0	0	0.0009	2.248e-05	1.656e-05	1.16e-05	3.942e-05	3.94e-05	2.569e-05	5.379e-05	9.65e-05	1.715e-05	1.129e-05	3.249e-05	1.914e-05	9.65e-05	0	0	0	0	0	0	2.939e-05	0	0	0.0	0.91255	D	0.033	0.53072	D	0.003	0.11197	B	0.01	0.14941	B	0.000015	0.62929	D	0.000000	0.950946	0.37717	D	1.87	0.49600	L	-0.47	0.73523	T	-2.2	0.51811	N	0.446	0.48411	-0.8646	0.50930	T	0.154	0.48464	T	10	0.19714859	0.35635	T	0.044844	0.61690	D	0.186	0.46104	0.149	0.05238	0.597203257499	0.59400	0.3919646509663837	0.39111	0.254362264465	0.28005	0.63508951664	0.57867	T	0.408976	0.76414	T	-0.127355	0.31924	T	-0.184045	0.56147	T	0.353158384561539	0.27142	T	0.728927	0.34859	T	0.40213922	0.60881	0.4115999	0.65386	0.40213922	0.60881	0.4115999	0.65386	-4.236	0.27270	T	0.64252395899098	0.71344	0.605	0.69090	P	.;.	.;.	3.187160	0.43288	21.7	0.99597006607891003	0.73983	0.94964	0.62946	D	AEFBCI	0.826876	0.74628	D	-0.159103166873739	0.34849	1.994393	-0.0418929306483803	0.37844	2.221307	0.993082658329407	0.33079	0.732398	0.92422	0	0.59043	0.45803	0	0.743671	0.96076	0	0.542086	0.14980	0	.	.	4.87	3.69	0.41483	3.386000	0.52232	4.248000	0.42743	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.1362:0.0:0.1424:0.7214	7.899	0.28886	382	0.83637	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	5211.33	52	chr6	7585852	.	T	C	5211.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.436;DP=1243;ExcessHet=0;FS=1.23;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.05;ReadPosRankSum=0.645;SOR=0.619	GT:AD:DP:GQ:PL	0/1:178,193:371:99:5225,0,4531	18	0	1	0
chr6	7590403	7590403	A	T	exonic	SNRNP48	.	nonsynonymous SNV	SNRNP48:NM_152551:exon1:c.A146T:p.E49V	.	418	1102	2	0	0	2	0.000906618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.0761509728374	0.0016	0.000599042	0.0018	0.0004	0.0043	0	0.0040	0.0028	0	0	0.0009056	140	154602	rs199829988	0.0009	0.0009	0.0009	0.0009	0.0077	0.0008	0.0008	0.0057	0.0050	0.0004	0.0039	0.0120	0	9.724e-05	0.0077	0.0006	0.0028	7.916e-05	0.0012	0.0012	0.0013	0.0010	0.0024	0.0011	0.0010	0.0017	0.0015	0.0006	0	0.0024	0.0121	0	9.443e-05	0.0103	0.0009	0.0076	0.0002	0.098	0.30800	T	0.095	0.39492	T	0.0	0.02946	B	0.0	0.01387	B	0.838739	0.06986	N	1.084740	0.997249	0.22736	N	1.04	0.26193	L	1.45	0.32482	T	-1.15	0.29525	N	0.247	0.27910	-0.9699	0.37220	T	0.016	0.06664	T	10	0.0040982366	0.00080	T	0.076151	0.72462	D	0.061	0.17616	.	.	0.154104182512	0.14974	0.3610805585410393	0.36022	0.361154789686	0.37775	0.450569272041	0.32022	T	0.005056	0.04483	T	-0.559215	0.00257	T	-0.578156	0.14709	T	0.0242827380777515	0.01181	T	0.481352	0.14557	T	0.0779794	0.17732	0.0859208	0.19871	0.0779794	0.17732	0.0859208	0.19871	-5.426	0.41169	T	.	.	0.094	0.14385	B	.	.	1.421027	0.18380	13.70	0.92499300237332482	0.21936	0.44376	0.27305	N	ALL	0.047231	0.07931	N	-0.941817178677353	0.09877	0.4694603	-0.939735511924712	0.11162	0.5669589	0.999999999568	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.16	-4.49	0.03257	-0.459000	0.06805	-1.512000	0.05273	0.756000	0.94297	0.359000	0.25834	0.000000	0.08366	0.997000	0.79791	0.2729:0.5211:0.0792:0.1268	4.840	0.12848	425	0.81160	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.019628	0.091398	0.023416	0.000000	0.000000	0.026786	0.000000	0.003817	0.02632	741.33	26	chr6	7590403	.	A	T	741.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.617;DP=770;ExcessHet=0;FS=1.28;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.85;ReadPosRankSum=-0.925;SOR=1.143	GT:AD:DP:GQ:PL	0/1:19,25:44:99:755,0,489	18	0	1	0
chr6	7727292	7727292	C	G	exonic	BMP6	.	nonsynonymous SNV	BMP6:NM_001718:exon1:c.C337G:p.Q113E	.	413	1101	5	0	3	8	0.00226552	.	.	.	1858503	BMP6-related_disorder|not_provided|Iron_overload,_susceptibility_to	.|MedGen:C3661900|MONDO:MONDO:0859316,MedGen:C5703292,OMIM:620121	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.036	.	0.0066	0.0121805	0.0049	0.0442	0.0046	0.0004	0	0.0030	0.0064	0.0002	0.0034411	532	154602	rs7745236	0.0020	0.0019	0.0021	0.0018	0.0302	0.0019	0.0019	0.0286	0.0280	0.0302	0.0050	0.0122	0.0001	4.187e-05	0.0144	0.0009	0.0047	0.0002	0.0099	0.0099	0.0104	0.0093	0.0303	0.0095	0.0093	0.0289	0.0283	0.0303	0	0.0067	0.0104	0	9.464e-05	0.0137	0.0010	0.0142	0.0002	0.392	0.10766	T	0.175	0.29945	T	0.018	0.17786	B	0.006	0.12133	B	.	.	.	.	0.995511	0.23271	N	1.1	0.28011	L	-0.62	0.71895	T	-0.04	0.07590	N	0.29	0.32812	-1.0224	0.22932	T	0.072	0.29387	T	8	0.0046218634	0.00096	T	.	.	.	0.036	0.09122	.	.	0.489451222937	0.48578	0.26530379879769506	0.26443	0.173319407104	0.19520	0.642553687096	0.58927	T	0.224622	0.58911	T	-0.479644	0.00743	T	-0.433889	0.29495	T	0.00311213079676517	0.00033	T	0.329367	0.06881	T	0.18643208	0.40052	0.24644403	0.50154	0.18643208	0.40051	0.24644403	0.50153	-4.19	0.26607	T	.	.	0.069	0.03197	B	.	.	0.677641	0.10460	7.179	0.563980882534873	0.05544	0.49930	0.28546	N	AEFDBCI	0.059078	0.11130	N	-0.839041400338733	0.12321	0.5998446	-0.826885783615199	0.13845	0.7203773	0.999999896999732	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.378051	0.06126	2	0.581474	0.35302	0	.	.	0.7	0.7	0.17258	1.145000	0.31189	-0.128000	0.11649	0.450000	0.21304	0.993000	0.37899	0.024000	0.20971	0.499000	0.28994	.	.	.	888	0.27761	TGF-beta, propeptide	.	.	.	.	.	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	0.023541	0.075269	0.032787	0.008824	0.000000	0.034483	0.000000	0.000000	0.02632	1369.33	33	chr6	7727292	.	C	G	1369.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.416;DP=740;ExcessHet=0;FS=2.839;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.21;ReadPosRankSum=-0.658;SOR=0.581	GT:AD:DP:GQ:PL	0/1:34,56:90:99:1383,0,806	18	0	1	0
chr6	7883235	7883235	C	T	exonic	TXNDC5	.	nonsynonymous SNV	TXNDC5:NM_001145549:exon10:c.G884A:p.R295Q,TXNDC5:NM_030810:exon10:c.G1208A:p.R403Q	.	431	1077	14	0	0	14	0.00645756	.	.	.	717999	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.197	.	0.0090	0.00359425	0.0072	0.0010	0.0052	0	0.0060	0.0107	0.0033	0.0028	0.0075355	1165	154602	rs111331197	0.0093	0.0093	0.0096	0.0090	0.0107	0.0092	0.0091	0.0106	0.0105	0.0013	0.0068	0.0068	5.038e-05	0.0051	0.0024	0.0107	0.0090	0.0032	0.0068	0.0068	0.0072	0.0064	0.0109	0.0064	0.0063	0.0102	0.0100	0.0020	0	0.0066	0.0066	0	0.0051	0.0068	0.0109	0.0085	0.0027	0.068	0.57480	T	0.102	0.38450	T	1.0	0.90584	D	0.977	0.73820	D	0.000000	0.84330	D	0.050224	0.999998	0.58761	D	0.845	0.21182	L	1.86	0.24285	T	-2.36	0.53736	N	0.245	0.45709	-1.1483	0.01077	T	0.095	0.35765	T	10	0.008690864	0.00197	T	.	.	.	0.197	0.47942	.	.	0.345405024496	0.34151	0.8802243070160694	0.87990	0.591792601973	0.54603	0.500492036343	0.38897	T	0.101339	0.40801	T	-0.447204	0.01173	T	-0.404766	0.32830	T	0.0356140735855132	0.02913	T	0.957954	0.85028	D	0.73061836	0.79758	0.49466294	0.70773	0.73061836	0.79760	0.49466294	0.70774	-10.033	0.74109	D	.	.	0.088	0.11893	B	.;.	.;.	4.330171	0.66345	24.9	0.99941253402788433	0.99797	0.88781	0.48875	D	AEFBHCI	0.617896	0.60390	D	0.532522745516262	0.69025	5.298757	0.578855270020047	0.73427	5.968526	0.999999975855396	0.74766	0.645754	0.44609	0	0.702456	0.74545	0	0.702456	0.68683	0	0.723	0.93126	0	.	.	5.8	5.8	0.92081	3.975000	0.56567	5.892000	0.50774	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.712000	0.34516	0.0:1.0:0.0:0.0	20.063	0.97692	766	0.49742	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	0	0	1	0	0.002518	0.005051	0.004076	0.002924	0.000000	0.000000	0.006098	0.000000	0.02632	1112.33	35	chr6	7883235	.	C	T	1112.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.13;DP=722;ExcessHet=0;FS=2.738;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=0.046;SOR=1.003	GT:AD:DP:GQ:PL	0/1:51,42:93:99:1126,0,1155	18	0	1	0
chr6	10704576	10704576	T	C	exonic	PAK1IP1	.	nonsynonymous SNV	PAK1IP1:NM_017906:exon6:c.T566C:p.I189T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.367	0.0219371572122	.	0.000199681	1.143e-05	0.0001	0	0	0	0	0	0	1.29e-05	2	154602	rs141123017	2.072e-06	2.736e-06	1.376e-06	2.776e-06	3.013e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	3.013e-05	0	0	0	0	0	1.818e-06	0	0	6.565e-06	6.562e-06	0	1.343e-05	2.406e-05	0	0	.	.	2.406e-05	0	0	0	0	0	0	0	0	0	0.003	0.68238	D	0.005	0.72224	D	0.923	0.51194	P	0.461	0.46460	P	0.001846	0.37840	N	0.311477	0.999959	0.52396	D	2.56	0.74772	M	1.01	0.41058	T	-3.76	0.71276	D	0.756	0.75466	-0.8695	0.50567	T	0.109	0.39320	T	10	0.66603446	0.70432	D	0.021937	0.44774	T	0.367	0.68670	.	.	0.709778432931	0.70724	0.6063913216262832	0.60570	0.376295101703	0.39064	0.390729129314	0.23772	T	0.206555	0.56593	T	0.0859321	0.62727	D	-0.114341	0.62263	T	0.893702566623688	0.54497	D	.	.	.	0.30949745	0.53743	0.39192316	0.63950	0.30949745	0.53743	0.39192316	0.63950	-8.733	0.65962	D	.	.	0.316	0.54220	B	.	.	4.421211	0.68481	25.2	0.99824686835750354	0.90677	0.98747	0.86334	D	AEFBI	0.705986	0.66119	D	0.606321268879061	0.73575	5.988395	0.627635468518347	0.76952	6.587274	0.999968998717375	0.48965	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.65	5.65	0.86881	6.905000	0.75535	7.767000	0.68400	0.663000	0.56723	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	13.843	0.62947	827	0.39843	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1377.33	34	chr6	10704576	.	T	C	1377.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.392;DP=740;ExcessHet=0;FS=6.89;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.19;ReadPosRankSum=-0.76;SOR=0.267	GT:AD:DP:GQ:PL	0/1:60,53:113:99:1391,0,1746	18	0	1	0
chr6	10775364	10775364	C	T	exonic	MAK	.	nonsynonymous SNV	MAK:NM_001377262:exon11:c.G1459A:p.V487I,MAK:NM_001242385:exon12:c.G1561A:p.V521I,MAK:NM_001242957:exon12:c.G1561A:p.V521I,MAK:NM_005906:exon12:c.G1561A:p.V521I	Retinitis pigmentosa 62, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	1434650	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.058	0.00715698386387	.	.	.	.	.	.	.	.	.	.	.	.	.	rs990185904	1.984e-05	2.052e-05	2.451e-05	1.513e-05	0.0002	1.392e-05	1.204e-05	1.46e-05	1.227e-05	0	0	0	0	0	0.0002	2.159e-05	3.313e-05	2.319e-05	1.313e-05	1.312e-05	1.285e-05	1.342e-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	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.328783	0.14149	N	0.692665	1	0.08975	N	-0.97	0.01230	N	-0.58	0.71425	T	0.1	0.05810	N	0.051	0.07949	-1.0200	0.23715	T	0.024	0.10013	T	10	0.039702535	0.02481	T	0.007157	0.18979	T	0.058	0.16647	0.266	0.21261	0.319686207203	0.31575	0.04049822996762733	0.03995	0.130433540118	0.14714	0.233334347606	0.02224	T	0.035345	0.23683	T	-0.304069	0.08281	T	-0.67455	0.07319	T	0.065473040526976	0.08000	T	0.210379	0.04152	T	0.018360581	0.00357	0.02244526	0.00269	0.018360581	0.00357	0.02244526	0.00269	-4.379	0.29271	T	0.06499045237221991	0.02110	0.063	0.07554	B	.;.;.;.	.;.;.;.	-1.230297	0.00501	0.011	0.66557213821082306	0.08094	0.00482	0.02293	N	AEFBI	0.031554	0.03400	N	-1.80147202763025	0.00541	0.02331875	-1.75988964788968	0.00896	0.04008543	5.77432237052514E-4	0.07363	0.554377	0.28877	0	0.54472	0.11627	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	6.17	-4.17	0.03595	-1.126000	0.03365	-0.750000	0.07581	-1.690000	0.00773	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2068:0.264:0.1062:0.4229	1.289	0.01932	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	.	.	.	.	.	.	.	.	0.02632	1289.33	35	chr6	10775364	.	C	T	1289.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.789;DP=803;ExcessHet=0;FS=1.862;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.99;ReadPosRankSum=-1.209;SOR=0.481	GT:AD:DP:GQ:PL	0/1:38,48:86:99:1303,0,962	18	0	1	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1140.29	38	chr6	21595020	.	CGGGGGCGGCCAT	C	1140.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.153;DP=791;ExcessHet=0;FS=1.206;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.28;ReadPosRankSum=1.04;SOR=1.033	GT:AD:DP:GQ:PL	0/1:36,30:66:99:1154,0,1418	18	0	1	0
chr6	24145554	24145554	C	T	exonic	NRSN1	.	nonsynonymous SNV	NRSN1:NM_080723:exon4:c.C196T:p.L66F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.220	0.0253960966298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.013	0.63109	D	1.0	0.90584	D	0.989	0.78396	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.69	0.78713	M	2.04	0.39401	T	-1.57	0.50175	N	0.716	0.72120	-0.9366	0.43149	T	0.125	0.43008	T	10	0.44065765	0.58079	T	0.025396	0.48370	D	0.220	0.51569	0.202	0.11659	0.625481101073	0.62243	0.6214858075856532	0.62081	1.05154938784	0.76170	0.661980450153	0.61693	T	0.106732	0.41833	T	0.0952099	0.63771	D	-0.101014	0.63320	T	0.97040581703186	0.68937	D	0.857914	0.54791	D	0.46572846	0.65027	0.39292505	0.64025	0.46572846	0.65028	0.39292505	0.64025	-5.631	0.43075	T	.	.	0.162	0.37159	B	.;.;.	.;.;.	4.745988	0.76591	26.5	0.99895236271233467	0.96819	0.96227	0.68120	D	AEFBCI	0.831099	0.74969	D	0.760478614766467	0.83585	8.056313	0.721496033539898	0.84012	8.174695	0.999999999663906	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.46	5.46	0.80021	5.804000	0.68800	7.707000	0.66598	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:1.0:0.0:0.0	19.326	0.94248	842	0.36989	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3158	1943.2	34	chr6	24145554	.	C	T	1943.2	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-1.544;DP=1290;ExcessHet=11.1788;FS=190.289;InbreedingCoeff=-0.4869;MLEAC=11;MLEAF=0.289;MQ=60;MQRankSum=0;QD=2.69;ReadPosRankSum=-0.194;SOR=11.772	GT:AD:DP:GQ:PL	0/1:40,20:70:99:280,0,605	7	0	12	0
chr6	25537912	25537912	G	C	exonic	CARMIL1	.	nonsynonymous SNV	CARMIL1:NM_001173977:exon25:c.G2125C:p.G709R,CARMIL1:NM_017640:exon25:c.G2125C:p.G709R	.	434	1080	8	0	0	8	0.00369004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.0127630216195	.	0.000599042	0.0009	0	0.0009	0	0	0.0011	0.0064	0.0016	0.0006145	95	154602	rs41271819	0.0005	0.0005	0.0005	0.0006	0.0021	0.0005	0.0005	0.0013	0.0012	0	0.0004	0.0015	0	0	0.0021	0.0005	0.0008	0.0015	0.0005	0.0005	0.0004	0.0006	0.0008	0.0004	0.0004	0.0005	0.0004	0.0001	0	0.0006	0.0023	0	0	0	0.0006	0.0024	0.0008	0.086	0.32610	T	0.359	0.17014	T	0.251	0.31212	B	0.145	0.33871	B	0.000486	0.43931	D	0.262542	0.999998	0.58761	D	.	.	.	2.34	0.16351	T	-0.94	0.25118	N	0.287	0.32481	-1.0195	0.23877	T	0.020	0.08593	T	10	0.016815603	0.00356	T	0.012763	0.31612	T	0.103	0.29403	0.53	0.63707	0.043077524339	0.03247	0.3902178503288509	0.38936	0.43234834177	0.43413	0.359795749187	0.19355	T	0.030262	0.21493	T	-0.447668	0.01166	T	-0.451199	0.27566	T	0.0294889304795652	0.01912	T	0.964404	0.86792	D	0.13729742	0.31796	0.1568217	0.36699	0.13729742	0.31796	0.1568217	0.36698	-8.556	0.64798	D	.	.	0.115	0.23183	B	.	.	3.674807	0.52277	23.2	0.99871088516419382	0.94902	0.99182	0.92439	D	AEFDGBHIJ	0.900540	0.84619	D	0.243855067363158	0.53334	3.502896	0.418972141973165	0.62747	4.495485	0.999999999999964	0.74766	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.61	5.61	0.85347	9.323000	0.95598	6.622000	0.56123	0.676000	0.76740	1.000000	0.71638	0.998000	0.33993	0.997000	0.79791	0.0:0.0:1.0:0.0	19.242	0.93876	602	0.67834	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.002924	0.000000	0.008621	0.000000	0.000000	0.02632	555.33	35	chr6	25537912	.	G	C	555.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.757;DP=688;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.54;ReadPosRankSum=-1.373;SOR=0.653	GT:AD:DP:GQ:PL	0/1:36,29:65:99:569,0,959	18	0	1	0
chr6	26451918	26451918	G	T	exonic	BTN3A3	.	nonsynonymous SNV	BTN3A3:NM_001242803:exon6:c.G632T:p.G211V,BTN3A3:NM_197974:exon10:c.G1115T:p.G372V,BTN3A3:NM_006994:exon11:c.G1262T:p.G421V	.	425	1088	9	0	0	9	0.00411899	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	.	.	0.00519169	0.0022	0.0173	0.0012	0	0.0008	0.0009	0.0011	0.0002	0.0022315	345	154602	rs149823309	0.0013	0.0016	0.0013	0.0012	0.0168	0.0012	0.0012	0.0157	0.0152	0.0168	0.0011	3.827e-05	0.0002	0.0005	0.0002	0.0010	0.0015	0.0002	0.0049	0.0051	0.0055	0.0044	0.0156	0.0046	0.0045	0.0147	0.0143	0.0156	0	0.0010	0	0	0	0	0.0012	0.0024	0	0.001	0.91255	D	0.029	0.54541	D	0.013	0.16609	B	0.017	0.18140	B	.	.	.	.	0.650863	0.30534	N	1.915	0.51223	L	-0.54	0.70950	T	-4.97	0.83625	D	0.107	0.15469	-0.9555	0.40006	T	0.154	0.48498	T	9	0.003355354	0.00058	T	.	.	.	0.129	0.35316	.	.	0.628695536755	0.62566	0.222583584877344	0.22173	0.0418348922505	0.04497	0.229516580701	0.01932	T	0.24274	0.61153	T	-0.426227	0.01563	T	-0.371397	0.36725	T	0.0352866086039991	0.02857	T	0.358264	0.08365	T	0.36152196	0.57952	0.4591285	0.68578	0.36152196	0.57953	0.4591285	0.68578	-6.77	0.52336	T	.	.	0.105	0.19316	B	.;.	.;.	1.301151	0.17030	12.92	0.94414639390753574	0.24815	0.21181	0.21310	N	AEFGBI	0.175290	0.30246	N	-0.893019700307879	0.11007	0.5289368	-0.978347833717179	0.10273	0.5162896	0.999962974030529	0.48965	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	2.94	1.06	0.19341	0.785000	0.26491	-1.030000	0.06551	-0.285000	0.06363	0.000000	0.06391	0.000000	0.08366	0.882000	0.42233	0.1179:0.0:0.6886:0.1936	5.619	0.16725	667	0.61242	SPRY domain|B30.2/SPRY domain|SPRY domain|Butyrophilin subfamily 3, PRY/SPRY domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004028	0.000000	0.008152	0.002924	0.000000	0.000000	0.000000	0.007576	0.02632	1810.33	38	chr6	26451918	.	G	T	1810.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.6;DP=788;ExcessHet=0;FS=1.305;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=53.85;MQRankSum=-4.909;QD=11.68;ReadPosRankSum=-0.482;SOR=0.847	GT:AD:DP:GQ:PL	0/1:94,61:155:99:1824,0,2683	18	0	1	0
chr6	29462157	29462157	T	C	exonic	OR2H1	.	nonsynonymous SNV	OR2H1:NM_001318014:exon4:c.T388C:p.Y130H,OR2H1:NM_001318022:exon4:c.T388C:p.Y130H,OR2H1:NM_030883:exon4:c.T388C:p.Y130H	.	425	1060	34	3	0	40	0.0185185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.244	.	0.0024	0.00299521	0.0052	0.0010	0.0017	0.0022	0.0014	0.0043	0.0057	0.0164	0.0043143	667	154602	rs143294075	0.0039	0.0039	0.0034	0.0044	0.0169	0.0038	0.0038	0.0161	0.0158	0.0002	0.0016	0.0015	0.0020	0.0014	0.0101	0.0034	0.0038	0.0169	0.0030	0.0030	0.0028	0.0031	0.0137	0.0027	0.0026	0.0111	0.0101	0.0004	0	0.0020	0.0026	0.0021	0.0008	0.0034	0.0044	0.0047	0.0137	0.0	0.91255	D	0.004	0.74150	D	0.441	0.35913	B	0.141	0.33616	B	0.002381	0.36688	N	0.000000	0.51767	0.31595	N	3.6	0.93737	H	1.41	0.33412	T	-4.81	0.80767	D	0.653	0.69125	-0.8914	0.48811	T	0.079	0.31526	T	10	0.006010264	0.00135	T	.	.	.	0.244	0.55061	.	.	0.413241256734	0.40943	0.25323395530577714	0.25237	0.325159186758	0.34672	0.400289595127	0.25109	T	0.029222	0.20989	T	-0.280956	0.10565	T	-0.162725	0.58106	T	0.106807893459721	0.13090	T	.	.	.	0.38118532	0.59402	0.527584	0.72705	0.38118532	0.59402	0.527584	0.72706	-8.022	0.61220	D	.	.	0.206	0.43200	B	.;.;.;.	.;.;.;.	2.935494	0.39014	20.9	0.99451139326584603	0.65274	0.97024	0.72250	D	AEFBI	0.740402	0.68466	D	0.243189176505392	0.53302	3.499782	0.177916497456782	0.48639	3.077151	0.995561244439635	0.34196	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.92	2.92	0.32998	7.046000	0.76310	.	.	0.479000	0.22080	1.000000	0.71638	0.009000	0.19889	0.439000	0.27649	0.0:0.0:0.0:1.0	11.745	0.51085	824	0.40336	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	0.005991	0.000000	0.004076	0.005319	0.000000	0.000000	0.009146	0.011364	0.02632	2171.33	39	chr6	29462157	.	T	C	2171.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.48;DP=850;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.61;ReadPosRankSum=-0.205;SOR=0.657	GT:AD:DP:GQ:PL	0/1:111,76:187:99:2185,0,3166	18	0	1	0
chr6	30167232	30167232	T	A	exonic	TRIM15	.	nonsynonymous SNV	TRIM15:NM_033229:exon2:c.T438A:p.D146E	.	431	1085	6	0	0	6	0.00275735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.0200845198558	0.0013	0.000599042	0.0014	0.0004	0.0018	0	0.0003	0.0021	0.0046	0.0002	0.0013389	207	154602	rs140385648	0.0015	0.0015	0.0015	0.0015	0.0040	0.0014	0.0014	0.0027	0.0023	0.0001	0.0015	0.0083	0	0.0003	0.0040	0.0016	0.0017	0.0002	0.0014	0.0014	0.0016	0.0012	0.0020	0.0012	0.0012	0.0017	0.0016	0.0005	0.0011	0.0008	0.0089	0	0.0004	0.0034	0.0020	0.0028	0	0.663	0.04657	T	1.0	0.01155	T	0.027	0.19556	B	0.006	0.12133	B	0.148449	0.18048	N	0.460981	1	0.08975	N	-0.025	0.05070	N	-0.72	0.72994	T	0.06	0.06253	N	0.133	0.12913	-1.0063	0.28065	T	0.029	0.12585	T	10	0.0032702982	0.00056	T	0.020085	0.42610	T	0.068	0.19811	0.49	0.57573	0.528860544761	0.52534	0.07374931533859407	0.07311	0.375834496674	0.39036	0.313650935888	0.12458	T	0.00234	0.01739	T	-0.607876	0.00130	T	-0.651806	0.08828	T	0.000478177642397417	0.00004	T	.	.	.	0.02746976	0.01942	0.02486309	0.00514	0.02746976	0.01942	0.02486309	0.00514	-0.918	0.00913	T	.	.	0.146	0.32299	B	.;.	.;.	-0.096138	0.03663	0.736	0.5031808800200076	0.04363	0.01518	0.05011	N	AEFDBIJ	0.103606	0.20752	N	-1.49102773351629	0.01913	0.0839493	-1.45689628761892	0.02708	0.1250621	0.965259192133832	0.28818	0.603402	0.35316	0	0.548873	0.16688	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.35	-1.08	0.09428	-0.570000	0.05986	.	.	-0.215000	0.08222	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.1402:0.3709:0.1373:0.3516	1.318	0.01984	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	0.005991	0.000000	0.002717	0.000000	0.000000	0.017544	0.021341	0.000000	0.02632	1211.33	36	chr6	30167232	.	T	A	1211.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.28;DP=713;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.53;ReadPosRankSum=0.3;SOR=0.626	GT:AD:DP:GQ:PL	0/1:32,46:78:99:1225,0,727	18	0	1	0
chr6	30171853	30171853	A	G	exonic	TRIM15	.	nonsynonymous SNV	TRIM15:NM_033229:exon7:c.A902G:p.Q301R	.	434	1079	9	0	0	9	0.00415321	.	.	.	2680106	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.041	0.00645555789704	0.0001	.	0.0002	0	0	0	0	0.0003	0	0	9.06e-05	14	154602	rs201819032	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0003	0.0003	0.0003	0	0	0	0	0.0002	0	0.0004	0.0001	1.238e-05	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	0.0001	0.0002	0.0002	2.412e-05	0	0.0002	0	0	0	0	0.0003	0	0	0.072	0.34982	T	0.376	0.16182	T	0.033	0.20350	B	0.029	0.21540	B	0.445671	0.12571	U	0.644439	0.999999	0.58761	D	0.695	0.17993	N	2.92	0.09915	T	-2.03	0.46673	N	0.145	0.14622	-0.9402	0.42584	T	0.005	0.01688	T	10	0.043952018	0.03299	T	0.006456	0.16985	T	0.041	0.10877	.	.	0.343788945184	0.33981	0.05048262931352523	0.04991	0.43953566547	0.43982	0.245152115822	0.03274	T	0.026275	0.19479	T	-0.511974	0.00489	T	-0.628253	0.10548	T	0.0422546017443934	0.04101	T	.	.	.	0.078385346	0.17846	0.12166521	0.29353	0.078385346	0.17845	0.12166521	0.29353	-3.586	0.17654	T	.	.	0.105	0.19438	B	.;.	.;.	2.004878	0.25474	16.78	0.85007723636640975	0.15629	0.21964	0.21585	N	AEFDBHCI	0.202827	0.32939	N	-0.775483817994969	0.13950	0.6911041	-0.684142045432449	0.17356	0.9225605	0.999998659627906	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.378051	0.06126	2	0.63947	0.58350	0	.	.	4.89	2.38	0.28415	0.604000	0.23862	.	.	-0.135000	0.12811	0.012000	0.18695	0.000000	0.08366	0.979000	0.57723	0.5696:0.1736:0.0905:0.1663	1.879	0.03028	840	0.37365	SPRY-associated|Butyrophylin-like, SPRY domain|B30.2/SPRY domain|SPRY-associated;SPRY-associated|Butyrophylin-like, SPRY domain|B30.2/SPRY domain|SPRY-associated	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	899.33	35	chr6	30171853	.	A	G	899.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.678;DP=724;ExcessHet=0;FS=1.766;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.46;ReadPosRankSum=-1.906;SOR=0.913	GT:AD:DP:GQ:PL	0/1:44,42:86:99:913,0,1220	18	0	1	0
chr6	30602902	30602910	GGACCCCCT	-	exonic	PPP1R10	.	nonframeshift deletion	PPP1R10:NM_001376195:exon18:c.1893_1901del:p.G635_P637del,PPP1R10:NM_002714:exon18:c.1893_1901del:p.G635_P637del	.	322	1177	23	0	0	23	0.00967606	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0085	0.00758786	0.0072	0.0114	0.0194	0.0013	0	0.0106	0.0140	0.0012	0.0018057	47	26028	rs567936494	0.0073	0.0073	0.0074	0.0072	0.0265	0.0072	0.0072	0.0230	0.0217	0.0088	0.0103	0.0095	0	0.0008	0.0265	0.0079	0.0096	0.0015	0.0092	0.0092	0.0099	0.0084	0.0118	0.0088	0.0086	0.0109	0.0106	0.0118	0.0011	0.0112	0.0092	0	0.0005	0.0340	0.0095	0.0161	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	3276.79	35	chr6	30602901	.	AGGACCCCCT	A	3276.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.24;DP=794;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=20.23;ReadPosRankSum=1.32;SOR=0.724	GT:AD:DP:GQ:PL	0/1:34,32:66:99:1241,0,1331	17	0	2	0
chr6	30948940	30948940	C	T	exonic	MUCL3	.	nonsynonymous SNV	MUCL3:NM_080870:exon2:c.C476T:p.T159M	.	433	1073	16	0	0	16	0.00740056	.	.	.	3318925	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.105	0.0177011097532	0.0007	0.000599042	0.0006	0	0	0	0	0.0006	0	0.0008	0.0001682	26	154602	rs367634528	0.0005	0.0005	0.0005	0.0005	0.0010	0.0005	0.0005	0.0008	0.0007	6.353e-05	0.0007	0	5.596e-05	0.0002	0.0002	0.0005	0.0004	0.0010	0.0004	0.0004	0.0004	0.0004	0.0008	0.0003	0.0003	0.0004	0.0004	9.622e-05	0	0.0006	0	0	0	0	0.0006	0	0.0008	.	.	.	0.011	0.76473	D	0.998	0.73220	D	0.815	0.58847	P	.	.	.	.	1	0.19989	N	.	.	.	0.87	0.46412	T	-1.77	0.41809	N	0.301	0.34012	-1.1022	0.03835	T	0.060	0.25200	T	9	0.023786604	0.00633	T	0.017701	0.39501	T	0.105	0.29889	.	.	0.201204373187	0.19734	0.13410063976645648	0.13334	1.42764072559	0.85742	0.258436053991	0.04706	T	0.031805	0.22205	T	-0.436612	0.01354	T	-0.467416	0.25795	T	0.0523241693978536	0.05903	T	0.622538	0.23960	T	0.029478166	0.02450	0.06450842	0.12940	0.029478166	0.02450	0.06450842	0.12940	-7.23	0.55696	T	.	.	0.210	0.43734	B	.;.;.	.;.;.	2.692622	0.35150	19.82	0.99622365490195097	0.75473	0.05540	0.11434	N	AEFBI	0.037559	0.05184	N	-0.370116437582655	0.26539	1.449202	-0.575452350563824	0.20133	1.083385	0.905390615937995	0.26203	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.14	2.25	0.27340	0.539000	0.22885	.	.	0.549000	0.26987	0.001000	0.13787	0.001000	0.17328	0.005000	0.06747	0.0:0.7434:0.0:0.2566	5.589	0.16573	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	.	.	.	.	.	.	.	.	0.02632	2334.33	126	chr6	30948940	.	C	T	2334.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.26;DP=1082;ExcessHet=0;FS=0.583;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.77;ReadPosRankSum=-1.377;SOR=0.635	GT:AD:DP:GQ:PL	0/1:75,83:158:99:2348,0,1830	18	0	1	0
chr6	30949584	30949640	ACACCATCCCCAGCAGAGCCTACAGAACATGGAGAAAGGACAGCCAATGAGAACACT	-	exonic	MUCL3	.	nonframeshift deletion	MUCL3:NM_080870:exon2:c.1120_1176del:p.A388_T406del	.	433	1079	9	1	0	11	0.00507146	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.875e-05	0	0	0	0	0.0002	0	0	.	.	.	.	0.0031	0.0031	0.0031	0.0031	0.0359	0.0030	0.0030	0.0342	0.0336	0.0026	0.0051	0.0046	0.0359	0.0004	0.0109	0.0021	0.0042	0.0006	0.0041	0.0053	0.0043	0.0039	0.0063	0.0039	0.0037	0.0046	0.0042	0.0044	0.0011	0.0055	0.0058	0.0063	0.0010	0.0036	0.0040	0.0076	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	5779.29	440	chr6	30949583	.	CACACCATCCCCAGCAGAGCCTACAGAACATGGAGAAAGGACAGCCAATGAGAACACT	C	5779.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.41;DP=8156;ExcessHet=0;FS=1.845;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.12;MQRankSum=-5.25;QD=11.07;ReadPosRankSum=2.12;SOR=0.549	GT:AD:DP:GQ:PL	0/1:340,182:522:99:5793,0,12531	18	0	1	0
chr6	31025859	31025859	T	C	exonic	MUC22	.	nonsynonymous SNV	MUC22:NM_001198815:exon3:c.T428C:p.I143T,MUC22:NM_001318484:exon3:c.T437C:p.I146T,MUC22:NM_001322469:exon3:c.T437C:p.I146T	.	429	1085	8	0	0	8	0.00367309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00837732255629	.	.	9.235e-05	0	0	0	.	0.0004	0	0	.	.	.	rs764766795	7.23e-05	6.841e-05	6.28e-05	8.206e-05	8.344e-05	6.038e-05	5.629e-05	6.903e-05	6.389e-05	0	0	0	2.805e-05	0.0002	0	8.344e-05	0	1.262e-05	6.001e-05	5.949e-05	6.516e-05	5.461e-05	0.0001	3.118e-05	2.24e-05	4.801e-05	3.362e-05	0	0	0	0	0	0.0002	0	0.0001	0	0	0.0	0.91255	D	0.976	0.02447	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0	0.06538	N	2.64	0.12780	T	-0.57	0.17210	N	0.053	0.02462	.	.	.	.	.	.	.	0.04250589	0.03006	T	0.008377	0.22181	T	.	.	.	.	0.104622674875	0.10061	0.004622867414160253	0.00435	.	.	0.163599163294	0.00015	T	0.004419	0.03828	T	-0.519023	0.00446	T	-0.767982	0.02835	T	.	.	.	0.424058	0.11326	T	0.0732571	0.16357	0.082614854	0.18868	0.0732571	0.16356	0.082614854	0.18867	-0.736	0.00749	T	.	.	0.112	0.22024	B	.	.	-0.737314	0.01236	0.063	0.49063019325681456	0.04146	0.00035	0.00307	N	AEFBI	0.011645	0.00107	N	.	.	.	.	.	.	0.0180130173290474	0.13013	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	2.47	-1.44	0.08391	-0.630000	0.05599	.	.	-1.741000	0.00701	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.6037:0.0:0.3963	6.848	0.23181	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	.	.	.	.	.	.	.	.	0.02632	3941.33	333	chr6	31025859	.	T	C	3941.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.646;DP=6213;ExcessHet=0;FS=2.555;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.45;ReadPosRankSum=1.21;SOR=0.857	GT:AD:DP:GQ:PL	0/1:154,139:293:99:3955,0,4498	18	0	1	0
chr6	31028713	31028713	C	0	exonic	MUC22	.	.	.	.	482	658	261	50	71	432	0.215265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	108983.0	539	chr6	31028713	.	C	*	108983.0	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.452;DP=12714;ExcessHet=1.1637;FS=0.523;InbreedingCoeff=-0.0192;MLEAC=2;MLEAF=0.053;MQ=59.97;MQRankSum=0.975;QD=16.64;ReadPosRankSum=-0.045;SOR=0.741	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:378,365:743:99:.:.:14093,0,14658:.	17	0	2	0
chr6	31271334	31271334	-	CC	exonic	HLA-C	.	frameshift insertion	HLA-C:NM_001243042:exon3:c.357_358insGG:p.Q120Gfs*32,HLA-C:NM_002117:exon3:c.357_358insGG:p.Q120fs	.	2	1358	160	1	1	163	0.0562891	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0037	0.0069	0.0046	0.0016	0.0007	0.0034	0.0049	0.0049	0.001921	50	26028	rs748394002	0.0001	0.0010	0.0001	0.0001	0.0008	9.76e-05	9.07e-05	0.0002	0.0002	5.481e-05	0.0001	0.0005	0.0003	6.819e-05	0.0008	8.739e-05	0.0001	0.0003	1.492e-05	0.0003	0	3.118e-05	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0013	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	600.29	151	chr6	31271334	.	G	GCC	600.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.01;DP=1830;ExcessHet=0;FS=3.668;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.21;MQRankSum=-0.613;QD=4.92;ReadPosRankSum=-1.672;SOR=1.187	GT:AD:DP:GQ:PL	0/1:100,22:122:99:614,0,4053	18	0	1	0
chr6	31271337	31271338	GG	-	exonic	HLA-C	.	frameshift deletion	HLA-C:NM_001243042:exon3:c.354_355del:p.L119Pfs*19,HLA-C:NM_002117:exon3:c.354_355del:p.T118fs	.	27	1333	161	1	0	163	0.0576175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0037	0.0067	0.0047	0.0016	0.0007	0.0034	0.0050	0.0050	0.001921	50	26028	rs778339286	0.0001	0.0010	0.0001	0.0001	0.0008	9.287e-05	8.672e-05	0.0002	0.0001	5.51e-05	0.0001	0.0005	0.0003	6.851e-05	0.0008	8.505e-05	0.0001	0.0003	1.517e-05	0.0003	0	3.171e-05	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0013	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	597.29	151	chr6	31271336	.	AGG	A	597.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.68;DP=1829;ExcessHet=0;FS=3.652;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.3;MQRankSum=-0.625;QD=4.86;ReadPosRankSum=-1.658;SOR=1.169	GT:AD:DP:GQ:PL	0/1:101,22:123:99:611,0,4095	18	0	1	0
chr6	31271337	31271337	G	0	exonic	HLA-C	.	.	.	.	86	537	715	64	120	963	0.43975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	15452.9	154	chr6	31271337	.	G	*	15452.9	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.88;DP=1867;ExcessHet=17.0548;FS=6.023;InbreedingCoeff=-0.5833;MLEAC=1;MLEAF=0.026;MQ=57.16;MQRankSum=-3.909;QD=9.79;ReadPosRankSum=-1.717;SOR=1.228	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:101,22:123:99:.:.:611,0,4095:.	18	0	1	0
chr6	31356431	31356431	G	0	exonic	HLA-B	.	.	.	.	137	311	365	102	607	1176	0.47775	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	3519.96	21	chr6	31356431	.	G	*	3519.96	.	AC=14;AF=0.368;AN=38;BaseQRankSum=2.34;DP=961;ExcessHet=2.8292;FS=1.184;InbreedingCoeff=-0.1474;MLEAC=14;MLEAF=0.368;MQ=56.06;MQRankSum=-1.664;QD=4.03;ReadPosRankSum=0.13;SOR=0.605	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:56,5:61:41:0|1:31356417_G_A:41,0,2336:31356417	7	2	10	0
chr6	31356716	31356717	CA	0	exonic	HLA-B	.	.	.	.	0	89	17	5	115	142	0.131707	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	4067.47	43	chr6	31356716	.	CA	*	4067.47	.	AC=10;AF=0.263;AN=38;BaseQRankSum=2.25;DP=1047;ExcessHet=0.3394;FS=8.086;InbreedingCoeff=0.1815;MLEAC=10;MLEAF=0.263;MQ=53.03;MQRankSum=-6.682;QD=5.84;ReadPosRankSum=-0.53;SOR=1.329	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:63,25:88:99:0|1:31356711_C_CGGAG:860,0,2570:31356711	11	2	6	0
chr6	31356719	31356720	GT	0	exonic	HLA-B	.	.	.	.	10	742	10	2	758	772	0.00934579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	4133.47	43	chr6	31356719	.	GT	*	4133.47	.	AC=10;AF=0.263;AN=38;BaseQRankSum=1.13;DP=1058;ExcessHet=0.3394;FS=7.971;InbreedingCoeff=0.1815;MLEAC=10;MLEAF=0.263;MQ=53.9;MQRankSum=-7.228;QD=5.85;ReadPosRankSum=-1.34;SOR=1.218	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:63,25:88:99:0|1:31356711_C_CGGAG:860,0,2570:31356711	11	2	6	0
chr6	31356720	31356720	T	0	exonic	HLA-B	.	.	.	.	2	80	21	0	123	144	0.116022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	2127.41	43	chr6	31356720	.	T	*	2127.41	.	AC=12;AF=0.333;AN=36;DP=1057;ExcessHet=0.0278;FS=7.087;InbreedingCoeff=0.3681;MLEAC=12;MLEAF=0.333;MQ=55.52;QD=3.57;SOR=1.198	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:63,25:88:99:0|1:31356711_C_CGGAG:860,0,2570:31356711	9	3	6	1
chr6	31356748	31356750	CCT	0	exonic	HLA-B	.	.	.	.	92	56	75	5	1294	1379	0.431472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8684	754.83	150	chr6	31356748	.	CCT	*	754.83	.	AC=33;AF=0.868;AN=38;DP=2092;ExcessHet=0.7564;FS=0.797;InbreedingCoeff=-0.1176;MLEAC=33;MLEAF=0.868;MQ=52.89;QD=0.36;SOR=0.837	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,32:110:99:0|1:31356711_C_CGGAG:1109,0,3179:31356711	0	14	5	0
chr6	31637269	31637269	C	G	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon30:c.C6278G:p.T2093R,PRRC2A:NM_080686:exon30:c.C6278G:p.T2093R	.	409	1100	12	0	1	13	0.00542495	.	.	.	2354438	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.085	0.00997595296051	0.0011	.	0.0006	0.0001	0.0004	0	0.0006	0.0007	0.0011	0.0008	0.0004851	75	154602	rs115306790	0.0005	0.0005	0.0005	0.0006	0.0023	0.0005	0.0005	0.0013	0.0011	2.988e-05	0.0004	0.0015	5.038e-05	0.0006	0.0023	0.0005	0.0006	0.0007	0.0005	0.0005	0.0004	0.0006	0.0008	0.0004	0.0004	0.0006	0.0006	4.812e-05	0	0.0001	0.0009	0.0004	0.0016	0.0034	0.0008	0	0	0.003	0.68238	D	0.025	0.56192	D	0.089	0.25085	B	0.008	0.13708	B	0.504316	0.11914	N	0.761042	0.989783	0.24254	N	0	0.06538	N	4.59	0.01885	T	-1.3	0.32590	N	0.367	0.41459	-0.8731	0.50295	T	0.002	0.00707	T	10	0.032936364	0.01457	T	0.009976	0.25968	T	0.085	0.24743	.	.	0.0675242888579	0.06100	0.2558363365434808	0.25497	0.178833483932	0.20123	0.486222445965	0.36915	T	0.008027	0.07391	T	-0.46433	0.00923	T	-0.53011	0.19275	T	0.0129608555596332	0.00224	T	0.738226	0.35599	T	0.17241795	0.37931	0.22701688	0.47698	0.17241795	0.37931	0.22701688	0.47697	-3.935	0.22828	T	.	.	0.269	0.50278	B	.;.	.;.	2.848456	0.37596	20.5	0.89406778148803701	0.18770	0.91253	0.53161	D	AEFDBHCI	0.528821	0.55019	D	-0.227630049196985	0.32004	1.800342	-0.0244943684078109	0.38613	2.277347	0.999997246821151	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.93	5.04	0.67293	2.498000	0.45023	.	.	0.576000	0.29215	0.882000	0.31029	0.999000	0.35428	0.436000	0.27583	0.1565:0.8435:0.0:0.0	13.520	0.61016	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	0.000545	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	2323.33	68	chr6	31637269	.	C	G	2323.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=5.18;DP=1551;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.7;ReadPosRankSum=0.617;SOR=0.662	GT:AD:DP:GQ:PL	0/1:100,83:183:99:2337,0,2362	18	0	1	0
chr6	31810376	31810376	C	G	exonic	HSPA1L	.	nonsynonymous SNV	HSPA1L:NM_005527:exon2:c.G1597C:p.V533L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00740654503432	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0021	0.0002	0.0001	0.0002	0.0001	0.0001	0.0002	0.0001	0.0002	0	0	2.525e-05	0	0	0.0002	0.0001	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.413	0.10052	T	0.161	0.31326	T	0.013	0.16609	B	0.056	0.26147	B	0.185742	0.03214	N	1.966570	1	0.08975	N	-1.105	0.00963	N	5.53	0.00894	T	-0.49	0.15578	N	0.115	0.10340	-0.9371	0.43072	T	0.001	0.00222	T	10	0.03462872	0.01678	T	0.007407	0.19657	T	0.029	0.06676	0.357	0.35897	0.371718192555	0.36778	0.15855101505881897	0.15776	0.267744745311	0.29313	0.328189313412	0.14660	T	0.004791	0.04206	T	-0.333095	0.05880	T	-0.716245	0.04979	T	0.153081059455872	0.17347	T	.	.	.	0.05782822	0.11556	0.0916961	0.21573	0.05782822	0.11556	0.0916961	0.21572	-3.124	0.11574	T	.	.	0.079	0.07365	B	.	.	-0.100834	0.03638	0.723	0.73951968360265008	0.10515	0.09685	0.15385	N	AEFBI	0.130493	0.24906	N	-1.10104396103768	0.06625	0.305511	-1.06678862214965	0.08361	0.410748	0.988801212773729	0.31633	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.55	-0.647	0.10892	-0.207000	0.09388	.	.	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.140000	0.19946	0.0:0.3308:0.2673:0.4019	5.069	0.13935	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	.	.	.	.	.	.	.	.	0.08824	324.25	143	chr6	31810376	.	C	G	324.25	.	AC=3;AF=0.088;AN=34;BaseQRankSum=-4.257;DP=2402;ExcessHet=0.3672;FS=193.172;InbreedingCoeff=-0.1207;MLEAC=3;MLEAF=0.088;MQ=60;MQRankSum=0;QD=0.75;ReadPosRankSum=1.37;SOR=10.125	GT:AD:DP:GQ:PL	0/1:108,33:153:56:56,0,2177	14	0	3	2
chr6	32073884	32073884	C	T	exonic	TNXB	.	nonsynonymous SNV	TNXB:NM_001365276:exon12:c.G4444A:p.V1482M,TNXB:NM_019105:exon12:c.G4444A:p.V1482M	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	0	1511	10	1	0	12	0.00395517	.	.	.	612742	Cardiovascular_phenotype|not_provided|Ehlers-Danlos_syndrome|TNXB-related_disorder	MedGen:CN230736|MedGen:C3661900|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.330	0.0158133463884	0.0017	0.000599042	0.0018	0.0005	0.0022	0	0.0003	0.0026	0.0062	6.749e-05	0.0015136	234	154602	rs61740336	0.0016	0.0016	0.0015	0.0016	0.0050	0.0015	0.0015	0.0036	0.0031	0.0003	0.0019	0.0104	0	0.0003	0.0050	0.0015	0.0022	0.0001	0.0018	0.0018	0.0020	0.0015	0.0025	0.0016	0.0015	0.0022	0.0020	0.0004	0.0011	0.0020	0.0101	0	0.0004	0.0068	0.0025	0.0038	0	0.004	0.65419	D	0.002	0.79402	D	.	.	.	.	.	.	0.001638	0.38439	N	0.000000	0.724384	0.29891	N	.	.	.	0.13	0.60973	T	-2.04	0.46842	N	0.444	0.48227	-0.2364	0.76720	T	0.382	0.73862	T	10	0.010581881	0.00235	T	0.015813	0.36746	T	0.330	0.65226	.	.	0.697913142273	0.69531	.	.	.	.	0.55616748333	0.46726	T	0.270412	0.64268	T	-0.310216	0.07729	T	-0.223618	0.52388	T	0.0547379265471371	0.06314	T	0.775622	0.53747	T	0.15224087	0.34569	0.15292166	0.35958	0.15712823	0.35422	0.116435155	0.28108	-9.282	0.69494	D	0.12497254194179234	0.12352	0.189	0.40650	B	.;.;.	.;.;.	3.609741	0.51028	23.0	0.99909723046166476	0.97949	0.89983	0.50814	D	AEFBI	0.381915	0.46399	N	0.691903494542922	0.79101	7.007355	0.591832226995635	0.74350	6.122586	0.999043883223171	0.38290	0.646311	0.45356	0	0.610034	0.51514	0	0.645312	0.48771	0	0.542086	0.14980	0	.	.	5.46	5.46	0.80021	3.206000	0.50800	.	.	0.549000	0.26987	0.969000	0.34210	0.997000	0.33255	0.064000	0.16252	0.0:0.8327:0.1673:0.0	12.561	0.55629	917	0.20147	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	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	0.005991	0.000000	0.004076	0.000000	0.000000	0.017241	0.018293	0.000000	0.02632	1721.33	36	chr6	32073884	.	C	T	1721.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.04;DP=757;ExcessHet=0;FS=0.702;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.24;ReadPosRankSum=0.459;SOR=0.587	GT:AD:DP:GQ:PL	0/1:66,64:130:99:1735,0,1679	18	0	1	0
chr6	32530184	32530184	T	0	exonic	HLA-DRB5	.	.	.	.	81	232	140	96	973	1305	0.417085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6316	36204.6	117	chr6	32530184	.	T	*	36204.6	.	AC=24;AF=0.632;AN=38;BaseQRankSum=-1.048;DP=1952;ExcessHet=0.0506;FS=1.466;InbreedingCoeff=0.3091;MLEAC=24;MLEAF=0.632;MQ=55.76;MQRankSum=-11;QD=20.24;ReadPosRankSum=-1.33;SOR=0.868	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:108,11:119:99:0|1:32530183_CTT_C:137,0,4476:32530183	1	6	12	0
chr6	32530185	32530185	T	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5833	40557.0	113	chr6	32530185	.	T	*	40557.0	.	AC=21;AF=0.583;AN=36;DP=1897;ExcessHet=0.0015;FS=0.786;InbreedingCoeff=0.4685;MLEAC=22;MLEAF=0.611;MQ=55.19;QD=24.54;SOR=0.812	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:108,11:119:99:0|1:32530183_CTT_C:137,0,4476:32530183	2	5	11	1
chr6	32584177	32584178	CG	0	exonic	HLA-DRB1	.	.	.	.	55	575	391	86	415	978	0.328663	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2895	36894.9	402	chr6	32584177	.	CG	*	36894.9	.	AC=11;AF=0.289;AN=38;BaseQRankSum=3.25;DP=4323;ExcessHet=5.5644;FS=1.8;InbreedingCoeff=-0.2667;MLEAC=11;MLEAF=0.289;MQ=53.78;MQRankSum=2.42;QD=9.69;ReadPosRankSum=0.473;SOR=0.828	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:170,49:219:99:0|1:32584176_CCG_C:1546,0,6990:32584176	10	2	7	0
chr6	32584178	32584178	G	0	exonic	HLA-DRB1	.	.	.	.	53	515	203	35	716	989	0.209517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4737	8530.17	402	chr6	32584178	.	G	*	8530.17	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.31;DP=4315;ExcessHet=3.6106;FS=1.159;InbreedingCoeff=-0.1709;MLEAC=18;MLEAF=0.474;MQ=53.54;MQRankSum=-3.51;QD=2.37;ReadPosRankSum=0.706;SOR=0.827	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:170,49:219:99:0|1:32584176_CCG_C:1546,0,6990:32584176	3	2	14	0
chr6	32584370	32584370	G	0	exonic	HLA-DRB1	.	.	.	.	164	387	826	46	99	1017	0.542553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	53026.9	322	chr6	32584370	.	G	*	53026.9	.	AC=15;AF=0.417;AN=36;BaseQRankSum=3.39;DP=5457;ExcessHet=0.2833;FS=5.809;InbreedingCoeff=0.0877;MLEAC=15;MLEAF=0.417;MQ=53.43;MQRankSum=-13.94;QD=10.7;ReadPosRankSum=-1.02;SOR=1.11	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:218,98:377:99:0|1:32584366_C_T:3543,0,8853:32584366	3	0	15	1
chr6	32641444	32641444	G	0	exonic	HLA-DQA1	.	.	.	.	476	488	96	33	429	591	0.142355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	8603.32	126	chr6	32641444	.	G	*	8603.32	.	AC=19;AF=0.5;AN=38;BaseQRankSum=4.16;DP=3608;ExcessHet=1.7862;FS=13.485;InbreedingCoeff=-0.0523;MLEAC=19;MLEAF=0.5;MQ=56.46;MQRankSum=-11.23;QD=2.84;ReadPosRankSum=-3.962;SOR=1	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:192,58:250:99:0|1:32641430_C_T:1857,0,7887:32641430	4	4	11	0
chr6	32641445	32641445	A	0	exonic	HLA-DQA1	.	.	.	.	478	485	97	33	429	592	0.143866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	8744.32	123	chr6	32641445	.	A	*	8744.32	.	AC=19;AF=0.5;AN=38;BaseQRankSum=5.85;DP=3609;ExcessHet=1.7862;FS=13.485;InbreedingCoeff=-0.0523;MLEAC=19;MLEAF=0.5;MQ=56.48;MQRankSum=-11.25;QD=2.89;ReadPosRankSum=-3.865;SOR=1	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:192,58:250:99:0|1:32641430_C_T:1857,0,7887:32641430	4	4	11	0
chr6	32641462	32641462	G	0	exonic	HLA-DQA1	.	.	.	.	480	493	54	16	479	565	0.0802239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5263	8228.31	130	chr6	32641462	.	G	*	8228.31	.	AC=20;AF=0.526;AN=38;DP=3714;ExcessHet=1.7862;FS=5.077;InbreedingCoeff=-0.0523;MLEAC=20;MLEAF=0.526;MQ=56.58;QD=2.65;SOR=0.805	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:201,59:260:99:0|1:32641430_C_T:1869,0,8250:32641430	3	4	12	0
chr6	32641464	32641464	T	0	exonic	HLA-DQA1	.	.	.	.	475	499	54	15	479	563	0.077634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5263	8147.31	129	chr6	32641464	.	T	*	8147.31	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-1.229;DP=3714;ExcessHet=1.7862;FS=5.077;InbreedingCoeff=-0.0523;MLEAC=20;MLEAF=0.526;MQ=57.44;MQRankSum=-9.417;QD=2.64;ReadPosRankSum=-2.677;SOR=0.807	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:201,59:260:99:0|1:32641430_C_T:1869,0,8250:32641430	3	4	12	0
chr6	32641501	32641501	G	0	exonic	HLA-DQA1	.	.	.	.	496	603	6	2	415	425	0.00822368	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	17426.3	154	chr6	32641501	.	G	*	17426.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=5.31;DP=3915;ExcessHet=1.7862;FS=1.137;InbreedingCoeff=-0.0523;MLEAC=19;MLEAF=0.5;MQ=58.28;MQRankSum=-6.588;QD=5.23;ReadPosRankSum=1.7;SOR=0.748	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:198,46:244:99:0|1:32641476_G_A:1336,0,8176:32641476	4	4	11	0
chr6	32641522	32641522	A	0	exonic	HLA-DQA1	.	.	.	.	497	607	54	19	345	437	0.0704441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	18488.6	155	chr6	32641522	.	A	*	18488.6	.	AC=19;AF=0.5;AN=38;BaseQRankSum=4.13;DP=4106;ExcessHet=1.7862;FS=3.314;InbreedingCoeff=-0.0523;MLEAC=19;MLEAF=0.5;MQ=58.48;MQRankSum=-6.247;QD=5.33;ReadPosRankSum=2.42;SOR=0.982	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:196,49:245:99:0|1:32641476_G_A:1405,0,8036:32641476	4	4	11	0
chr6	32837966	32837966	G	A	exonic	TAP2	.	nonsynonymous SNV	TAP2:NM_001290043:exon2:c.C268T:p.P90S,TAP2:NM_018833:exon2:c.C268T:p.P90S	Bare lymphocyte syndrome, type I, due to TAP2 deficiency, Autosomal recessive;Wegener-like granulomatosis (3)	1	1515	6	0	0	6	0.00197628	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.213669322541	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1200951454	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.579e-06	6.567e-06	0	1.347e-05	2.417e-05	0	0	.	.	2.417e-05	0	0	0	0	0	0	0	0	0	0.215	0.19293	T	0.239	0.24477	T	0.087	0.24971	B	0.03	0.21741	B	0.045371	0.23544	N	0.364827	.	.	.	1.74	0.45129	L	-0.2	0.89627	T	-1.4	0.39887	N	0.155	0.18239	-0.6730	0.61693	T	0.323	0.69143	T	9	0.13019606	0.24776	T	0.213669	0.87418	D	0.131	0.35738	0.35	0.34760	0.363751660372	0.35992	0.3721309323516385	0.37127	0.554978574672	0.52213	0.591537237167	0.51710	T	0.087124	0.37873	T	-0.0106337	0.50178	T	-0.253051	0.49516	T	0.298539906740189	0.24943	T	0.741726	0.36078	T	0.054264218	0.10385	0.06263525	0.12284	0.054264218	0.10385	0.06263525	0.12284	-4.12	0.25584	T	.	.	0.074	0.05668	B	.;.;.;.	.;.;.;.	1.650778	0.21061	15.03	0.92978475434153485	0.22560	0.35260	0.25260	N	AEFDGBCI	0.069164	0.13678	N	-0.541750754050365	0.20743	1.095762	-0.530012078991585	0.21340	1.15393	0.999999987679203	0.74766	0.766844	0.99359	0	0.52208	0.09955	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	4.79	3.91	0.44383	1.209000	0.31963	.	.	0.663000	0.56723	0.345000	0.25717	1.000000	0.68203	0.002000	0.04165	0.113:0.0:0.887:0.0	7.993	0.29411	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	.	.	.	.	.	.	.	.	0.02632	1045.33	34	chr6	32837966	.	G	A	1045.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.475;DP=733;ExcessHet=0;FS=3.226;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.13;ReadPosRankSum=-0.103;SOR=1.182	GT:AD:DP:GQ:PL	0/1:36,38:74:99:1059,0,1024	18	0	1	0
chr6	33076072	33076072	C	T	exonic	HLA-DPB1	.	nonsynonymous SNV	HLA-DPB1:NM_002121:exon1:c.C31T:p.R11W	.	420	1098	4	0	0	4	0.00181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.00885487331115	.	.	3.937e-05	0	0	0	0	7.083e-05	0	0	3.88e-05	6	154602	rs777782877	2.671e-05	2.668e-05	2.589e-05	2.753e-05	0.0003	2e-05	1.756e-05	6.092e-05	2.521e-05	2.987e-05	0	0	0	0	0.0003	3.148e-05	1.657e-05	0	1.969e-05	1.968e-05	0	4.028e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0.0034	2.94e-05	0	0	0.722	0.03903	T	1.0	0.01155	T	0.002	0.09854	B	0.0	0.01387	B	.	.	.	.	0.999994	0.08975	N	-1.57	0.00452	N	0.72	0.50976	T	2.15	0.00343	N	0.088	0.06587	-0.9883	0.33027	T	0.013	0.05321	T	9	0.023168713	0.00598	T	0.008855	0.23342	T	0.039	0.10176	.	.	0.215109475489	0.21095	0.4219584735557442	0.42112	0.773432479962	0.64893	0.19451931119	0.00315	T	0.006876	0.06306	T	-0.452332	0.01094	T	-0.702247	0.05704	T	0.0257032100682358	0.01366	T	.	.	.	0.034673367	0.03937	0.030880004	0.01601	0.034673367	0.03936	0.030880004	0.01601	-6.284	0.48595	T	.	.	0.080	0.07841	B	.	.	0.081075	0.04871	1.460	0.59458549862981525	0.06229	0.00189	0.01098	N	AEFGBHCI	0.134963	0.25514	N	-1.80573606223112	0.00531	0.02287216	-1.82090556944097	0.00695	0.03092725	0.999995803204862	0.74766	0.554377	0.28877	0	0.52208	0.09955	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	3.24	-3.3	0.04692	-0.115000	0.10713	-1.686000	0.04916	-2.554000	0.00247	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.24:0.384:0.376	4.207	0.09952	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	0	0	.	.	.	.	.	.	.	.	0.02632	2490.33	34	chr6	33076072	.	C	T	2490.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.958;DP=818;ExcessHet=0;FS=1.81;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.32;ReadPosRankSum=-0.942;SOR=0.706	GT:AD:DP:GQ:PL	0/1:81,106:187:99:2504,0,1952	18	0	1	0
chr6	33164916	33164916	C	T	exonic	COL11A2	.	nonsynonymous SNV	COL11A2:NM_080679:exon61:c.G4478A:p.R1493Q,COL11A2:NM_080681:exon62:c.G4541A:p.R1514Q,COL11A2:NM_080680:exon64:c.G4799A:p.R1600Q	Deafness, autosomal dominant 13, Autosomal dominant;Deafness, autosomal recessive 53, Autosomal recessive;Fibrochondrogenesis 2, Autosomal recessive, Autosomal dominant;Otospondylomegaepiphyseal dysplasia, Autosomal recessive;Stickler syndrome, type III, Autosomal dominant;Weissenbacher-Zweymuller syndrome, Autosomal dominant	0	1520	2	0	0	2	0.000657462	.	.	YES	174361	not_provided|Autosomal_recessive_nonsyndromic_hearing_loss_53|Autosomal_dominant_nonsyndromic_hearing_loss_13|Otospondylomegaepiphyseal_dysplasia,_autosomal_recessive|Otospondylomegaepiphyseal_dysplasia,_autosomal_dominant|Fibrochondrogenesis_2|Connective_tissue_disorder|Stickler_Syndrome,_Dominant|not_specified	MedGen:C3661900|MONDO:MONDO:0012333,MedGen:C1864746,OMIM:609706,Orphanet:90636|MONDO:MONDO:0011159,MedGen:C1866095,OMIM:601868,Orphanet:90635|MONDO:MONDO:0044206,MedGen:C5551484,OMIM:215150,Orphanet:1427|MONDO:MONDO:0008490,MedGen:C1848488,OMIM:184840,Orphanet:166100,Orphanet:3450|MONDO:MONDO:0013795,MedGen:C3281128,OMIM:614524,Orphanet:2021|MONDO:MONDO:0003900,MedGen:C0009782|MedGen:CN239460|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.147	.	7.7e-05	0.00539137	0.0054	0	0.0009	0.0590	0.0089	0.0008	0.0078	0.0036	0.0018823	291	154602	rs1799912	0.0012	0.0013	0.0012	0.0013	0.0354	0.0012	0.0012	0.0338	0.0332	0	0	0.0002	0.0354	0.0009	0	4.934e-05	0.0011	0.0028	0.0009	0.0009	0.0007	0.0010	0.0193	0.0007	0.0007	0.0163	0.0151	0	0	0	0	0.0193	0.0008	0	5.884e-05	0.0014	0.0029	0.038	0.43708	D	0.049	0.48336	D	.	.	.	.	.	.	0.002022	0.37411	N	0.170180	0.696477	0.36112	D	.	.	.	-0.71	0.72889	T	-1.5	0.36586	N	0.36	0.44187	-1.0142	0.25593	T	0.093	0.35309	T	10	0.01012671	0.00227	T	.	.	.	0.147	0.38986	.	.	0.676845839615	0.67409	0.5838689600139562	0.58315	0.388035893685	0.40068	0.609013080597	0.54176	T	0.028589	0.20678	T	-0.353613	0.04504	T	-0.263797	0.48445	T	0.0341593517328559	0.02665	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.25100	B	.;.;.	.;.;.	4.222413	0.63876	24.6	0.99932255858212293	0.99439	0.46949	0.27873	N	AEFDBHCI	0.251201	0.37111	N	-0.0614340650030826	0.39093	2.299926	0.0199457016097485	0.40641	2.428784	0.118967587378684	0.16835	0.700653	0.57754	0	0.588066	0.40923	0	0.717052	0.78885	0	0.542086	0.14980	0	.	.	4.73	2.87	0.32523	3.892000	0.55947	1.684000	0.28029	0.589000	0.31548	1.000000	0.71638	0.907000	0.28067	0.994000	0.71098	0.3635:0.5427:0.0:0.0939	5.409	0.15636	830	0.39242	Fibrillar collagen, C-terminal|Fibrillar collagen, C-terminal|Fibrillar collagen, C-terminal;Fibrillar collagen, C-terminal|Fibrillar collagen, C-terminal|Fibrillar collagen, C-terminal;Fibrillar collagen, C-terminal|Fibrillar collagen, C-terminal|Fibrillar collagen, 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	.	.	.	.	.	.	.	.	0.02632	779.33	38	chr6	33164916	.	C	T	779.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.3;DP=739;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.13;ReadPosRankSum=-0.698;SOR=0.711	GT:AD:DP:GQ:PL	0/1:39,31:70:99:793,0,952	18	0	1	0
chr6	33313727	33313727	C	A	exonic	TAPBP	.	nonsynonymous SNV	TAPBP:NM_003190:exon2:c.G175T:p.D59Y,TAPBP:NM_172208:exon2:c.G175T:p.D59Y,TAPBP:NM_172209:exon2:c.G175T:p.D59Y	Bare lymphocyte syndrome, type I, Autosomal recessive	0	1492	28	2	0	32	0.0106101	.	.	.	721987	MHC_class_I_deficiency|TAPBP-related_disorder|not_provided	MONDO:MONDO:0011476,MedGen:C1858266,OMIM:PS604571,Orphanet:34592|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.333	0.0623189055885	0.0055	0.00339457	0.0051	0.0018	0.0023	0	0.0015	0.0078	0.0035	0.0028	0.0047218	730	154602	rs45583737	0.0061	0.0061	0.0061	0.0061	0.0087	0.0060	0.0059	0.0068	0.0067	0.0009	0.0028	0.0116	0.0001	0.0024	0.0087	0.0069	0.0062	0.0029	0.0044	0.0044	0.0047	0.0041	0.0072	0.0041	0.0040	0.0067	0.0064	0.0011	0	0.0033	0.0115	0.0002	0.0015	0.0034	0.0072	0.0047	0.0033	0.006	0.78490	D	0.0	0.92824	D	0.933	0.52105	P	0.401	0.44513	B	0.000001	0.62929	D	0.055692	0.995579	0.42754	D	.	.	.	0.82	0.52187	T	-5.07	0.82896	D	0.481	0.74462	-0.6309	0.63532	T	0.222	0.58550	T	10	0.010598451	0.00235	T	0.062319	0.68616	D	0.333	0.65522	.	.	0.693519491251	0.69088	0.8715885188461977	0.87124	1.1666736912	0.79651	0.610623180866	0.54403	T	0.244543	0.62454	T	-0.216899	0.18419	T	-0.0797713	0.64920	T	0.0329161563857539	0.02457	T	0.927007	0.73102	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.332	0.68006	B	.;.;.;.;.	.;.;.;.;.	4.068686	0.60437	24.2	0.84312139471139891	0.15218	0.52732	0.29202	D	ALL	0.223166	0.34756	N	0.371666500209946	0.59891	4.172566	0.280577785354143	0.54406	3.605716	0.999999999999045	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.15	4.15	0.47978	1.404000	0.34232	4.387000	0.43201	0.577000	0.29297	0.861000	0.30630	1.000000	0.68203	0.456000	0.28029	0.0:1.0:0.0:0.0	12.127	0.53225	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	1	0	0	0	0	1	0	0.009259	0.005051	0.006793	0.005319	0.000000	0.025862	0.015244	0.003788	0.02632	2827.33	39	chr6	33313727	.	C	A	2827.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.839;DP=764;ExcessHet=0;FS=2.644;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=24.59;ReadPosRankSum=-0.923;SOR=0.442	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:44,71:115:99:0|1:33313727_C_A:2841,0,1634:33313727	18	0	1	0
chr6	39030343	39030343	C	T	exonic	DNAH8	.	nonsynonymous SNV	DNAH8:NM_001371:exon92:c.C13424T:p.P4475L,DNAH8:NM_001206927:exon93:c.C14075T:p.P4692L	.	.	.	.	.	.	.	.	.	.	.	455633	Primary_ciliary_dyskinesia|not_provided	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.441	0.0318432387324	7.7e-05	0.00119808	0.0005	0	8.637e-05	0.0065	0	0	0	6.063e-05	0.0005175	80	154602	rs147878071	0.0003	0.0003	0.0003	0.0003	0.0073	0.0002	0.0002	0.0066	0.0063	0.0001	4.472e-05	0	0.0073	0	0	1.349e-05	0.0012	0.0001	0.0003	0.0003	0.0003	0.0003	0.0066	0.0002	0.0002	0.0048	0.0042	9.626e-05	0	0.0003	0	0.0066	0	0	2.94e-05	0.0005	0	0.001	0.78490	D	.	.	.	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.45	0.92227	M	3.06	0.08634	T	-9.0	0.98093	D	0.732	0.77978	-0.9099	0.46867	T	0.085	0.33014	T	10	0.014561981	0.00306	T	0.031843	0.53829	D	0.441	0.74447	.	.	0.836921927796	0.83536	0.7395416223044268	0.73899	0.578397025268	0.53743	0.799029886723	0.81815	T	0.174983	0.52441	T	-0.232621	0.16304	T	-0.102635	0.63194	T	0.25485880349498	0.23089	T	0.985721	0.95129	D	0.89065325	0.90564	0.8443094	0.91124	0.8889829	0.90421	0.8721935	0.93018	-6.789	0.52477	T	.	.	0.604	0.69045	P	.;.	.;.	3.773837	0.54225	23.5	0.99888668426480343	0.96359	0.93882	0.59464	D	AEFGBCI	0.930815	0.91870	D	0.940839733001316	0.93612	12.15589	0.863904679777377	0.93800	12.29009	0.999999999661784	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.15	5.15	0.70287	7.639000	0.82491	5.950000	0.51632	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:1.0:0.0:0.0	18.642	0.91356	756	0.51065	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	.	.	.	.	.	.	.	.	0.02632	1630.33	35	chr6	39030343	.	C	T	1630.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.93;DP=773;ExcessHet=0;FS=1.326;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.32;ReadPosRankSum=0.406;SOR=0.843	GT:AD:DP:GQ:PL	0/1:82,62:144:99:1644,0,2079	18	0	1	0
chr6	39105500	39105500	T	A	exonic	SAYSD1	.	nonsynonymous SNV	SAYSD1:NM_018322:exon2:c.A484T:p.I162F,SAYSD1:NM_001304793:exon3:c.A283T:p.I95F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.428	0.0696019604901	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.01	0.65728	D	0.997	0.70673	D	0.959	0.70163	D	0.000544	0.43413	D	0.238252	0.999999	0.58761	D	2.545	0.74286	M	.	.	.	-3.73	0.70920	D	0.587	0.60749	-0.1942	0.77821	T	0.361	0.72262	T	9	0.5287674	0.63062	D	0.069602	0.70774	D	0.428	0.73517	0.592	0.72123	0.15556083564	0.15200	0.8351786060479685	0.83477	0.680174251335	0.59975	0.614329755306	0.54927	T	0.356184	0.72307	T	0.16969	0.71095	D	0.00597185	0.70722	D	0.982758700847626	0.74683	D	0.907809	0.67374	D	0.30991045	0.53779	0.30575562	0.56602	0.30991045	0.53779	0.30575562	0.56601	-10.542	0.77088	D	.	.	0.642	0.70601	P	.;.	.;.	4.681458	0.74923	26.2	0.98889932778571765	0.47984	0.89290	0.49665	D	AEFBI	0.318026	0.42185	N	0.667254711014013	0.77488	6.684632	0.62034944974514	0.76421	6.48756	0.126268266101618	0.16996	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	6.08	4.89	0.63387	4.353000	0.59187	6.108000	0.53630	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1266:0.0:0.0:0.8734	12.360	0.54526	840	0.37365	.;Uncharacterised domain SAYSvFN	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2444.33	33	chr6	39105500	.	T	A	2444.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.19;DP=781;ExcessHet=0;FS=1.985;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.81;ReadPosRankSum=0.124;SOR=0.863	GT:AD:DP:GQ:PL	0/1:81,84:165:99:2458,0,2227	18	0	1	0
chr6	47010050	47010050	C	G	exonic	ADGRF1	.	nonsynonymous SNV	ADGRF1:NM_153840:exon11:c.G1385C:p.G462A	.	430	1064	27	1	0	29	0.0134446	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.0148596975298	0.0058	0.00159744	0.0040	0.0006	0.0011	0	0.0006	0.0064	0.0033	0.0021	0.0041203	637	154602	rs45461593	0.0054	0.0054	0.0055	0.0054	0.0158	0.0053	0.0053	0.0132	0.0122	0.0007	0.0023	0.0099	0	0.0005	0.0158	0.0062	0.0054	0.0032	0.0044	0.0044	0.0048	0.0039	0.0068	0.0041	0.0040	0.0063	0.0061	0.0016	0.0121	0.0041	0.0095	0.0002	0.0004	0.0102	0.0068	0.0057	0.0017	0.005	0.68238	D	0.143	0.39492	T	0.618	0.39878	P	0.101	0.30765	B	0.000886	0.41231	D	0.108197	0.928347	0.36892	D	.	.	.	1.35	0.34841	T	-5.13	0.83224	D	0.14	0.15469	-1.0658	0.10362	T	0.053	0.22539	T	10	0.003125757	0.00052	T	0.01486	0.35248	T	0.158	0.41098	.	.	0.252162846088	0.24830	0.5626145801708726	0.56188	0.0811084518359	0.09126	0.352576434612	0.18300	T	0.067042	0.37257	T	-0.490778	0.00643	T	-0.474995	0.24980	T	0.0738526429195159	0.09182	T	0.714229	0.32652	T	0.47816974	0.65789	0.45515832	0.68323	0.47816974	0.65790	0.45515832	0.68324	-4.273	0.27797	T	.	.	0.151	0.33342	B	.;.	.;.	1.918867	0.24368	16.37	0.99546258656753994	0.70836	0.55949	0.29993	D	AEFBCI	0.209860	0.33580	N	-0.229438254843676	0.31931	1.795477	-0.2679141333085	0.29162	1.63163	0.834347638524773	0.24750	0.525926	0.21836	0	0.59043	0.45803	0	0.615948	0.41167	0	0.584449	0.35598	0	.	.	5.2	4.32	0.50899	0.892000	0.27957	2.219000	0.31434	0.587000	0.30956	0.004000	0.16614	0.440000	0.24899	0.798000	0.37648	0.0:0.8659:0.1341:0.0	16.104	0.81014	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	0.008560	0.005051	0.009511	0.008772	0.050000	0.017241	0.003049	0.007576	0.07895	6477.79	34	chr6	47010050	.	C	G	6477.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.294;DP=1162;ExcessHet=0.3672;FS=0.525;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=11.65;ReadPosRankSum=-0.15;SOR=0.735	GT:AD:DP:GQ:PL	0/1:116,72:188:99:1980,0,3109	16	0	3	0
chr6	52403274	52403274	C	T	exonic	PAQR8	.	nonsynonymous SNV	PAQR8:NM_133367:exon2:c.C61T:p.R21C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.251	0.0264967686467	.	.	4.32e-05	0	0.0004	0	0	0	0	0	3.23e-05	5	154602	rs751676049	8.903e-06	9.577e-06	5.449e-06	1.24e-05	0.0002	4.97e-06	3.83e-06	0.0001	9.2e-05	0	0.0002	0	0	0	0	1.801e-06	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.72154	D	0.027	0.72224	D	1.0	0.90584	D	0.927	0.66185	D	0.000059	0.53742	D	0.128409	1	0.81001	D	.	.	.	0.82	0.48142	T	-3.23	0.65056	D	0.496	0.52918	-0.7583	0.57498	T	0.170	0.51117	T	10	0.40429464	0.55784	T	0.026497	0.49402	D	0.251	0.56024	.	.	0.758307598439	0.75611	0.62581252890368	0.62514	1.34852957792	0.84031	0.597539544106	0.52557	T	0.278778	0.65144	T	-0.2246	0.17369	T	-0.262839	0.48540	T	0.745931446552277	0.43059	D	0.944805	0.81406	D	0.276474	0.50709	0.20679131	0.44909	0.276474	0.50709	0.20679131	0.44908	-6.321	0.48888	T	.	.	0.122	0.40826	B	.;.;.	.;.;.	5.291379	0.88845	29.8	0.99928539385047799	0.99222	0.99113	0.91417	D	AEFDBI	0.813537	0.73598	D	0.556333252960996	0.70469	5.506012	0.533443650102859	0.70254	5.478261	0.999980120731414	0.51787	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.3	4.42	0.52775	4.846000	0.62558	5.889000	0.50737	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.1503:0.8497:0.0:0.0	14.241	0.65505	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	.	.	.	.	.	.	.	.	0.02632	121.33	62	chr6	52403274	.	C	T	121.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.565;DP=1047;ExcessHet=0;FS=85.937;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.19;ReadPosRankSum=-0.167;SOR=6.925	GT:AD:DP:GQ:PL	0/1:77,25:102:99:135,0,1723	18	0	1	0
chr6	52490311	52490311	A	C	exonic	EFHC1	.	nonsynonymous SNV	EFHC1:NM_018100:exon10:c.A1812C:p.E604D,EFHC1:NM_001172420:exon11:c.A1755C:p.E585D	.	0	1510	12	0	0	12	0.00395778	.	.	.	134411	not_specified|not_provided|Absence_seizure|Myoclonic_epilepsy,_juvenile,_susceptibility_to,_1|Juvenile_myoclonic_epilepsy	MedGen:CN169374|MedGen:C3661900|MedGen:C0014553,Orphanet:1941|MONDO:MONDO:0020752,MedGen:C1850778,OMIM:254770|MONDO:MONDO:0009696,MedGen:C0270853,OMIM:PS254770,Orphanet:307	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.031	.	0.0002	0.00219649	0.0017	0	0.0003	0	0	4.507e-05	0	0.0124	0.0015265	236	154602	rs369503191	0.0008	0.0008	0.0004	0.0011	0.0115	0.0007	0.0007	0.0109	0.0106	0	0.0002	0	0	0	0.0021	3.957e-05	0.0010	0.0115	0.0003	0.0003	0.0001	0.0005	0.0070	0.0002	0.0002	0.0052	0.0045	0	0	0.0001	0	0	0	0	0.0001	0	0.0070	0.748	0.03776	T	0.647	0.06812	T	0.0	0.02946	B	0.0	0.01387	B	0.394215	0.13213	N	0.751926	0.999998	0.08975	N	-0.06	0.04898	N	0.92	0.44461	T	-0.02	0.07299	N	0.115	0.10340	-0.9788	0.35277	T	0.016	0.06664	T	10	0.0033372045	0.00058	T	.	.	.	0.031	0.07369	0.319	0.29741	0.464953486513	0.46119	0.16648808848209132	0.16568	0.077068649369	0.08657	0.279707670212	0.07451	T	0.060977	0.31532	T	-0.627401	0.00099	T	-0.6646	0.07959	T	0.00872844818848592	0.00107	T	0.684232	0.30630	T	0.029315807	0.02406	0.027176164	0.00852	0.021454683	0.00749	0.024846615	0.00512	-3.392	0.14949	T	.	.	0.070	0.10545	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	0.962149	0.13387	9.893	0.87962188463989954	0.17612	0.02930	0.07745	N	AEFDGBCIJ	0.032328	0.03627	N	-0.795966146545056	0.13414	0.6606749	-0.692779193718994	0.17141	0.9100885	0.999999581964257	0.74766	0.730579	0.87903	0	0.719019	0.82233	0	0.659464	0.59346	0	0.648885	0.59868	0	.	.	5.66	0.669	0.17086	0.204000	0.17133	0.013000	0.13471	0.756000	0.94297	0.188000	0.24163	0.000000	0.08366	0.704000	0.34264	0.2965:0.3805:0.0934:0.2296	1.597	0.02505	889	0.27310	EF-hand domain|EF-hand domain;.;EF-hand domain|EF-hand domain;EF-hand domain;EF-hand domain;EF-hand domain|EF-hand domain;EF-hand domain;EF-hand domain|EF-hand domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	2293.33	33	chr6	52490311	.	A	C	2293.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.607;DP=783;ExcessHet=0;FS=2.2;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.26;ReadPosRankSum=0.162;SOR=0.503	GT:AD:DP:GQ:PL	0/1:56,85:141:99:2307,0,1371	18	0	1	0
chr6	56572920	56572920	C	T	exonic	DST	.	nonsynonymous SNV	DST:NM_015548:exon33:c.G5512A:p.A1838T,DST:NM_001374730:exon43:c.G6490A:p.A2164T,DST:NM_183380:exon43:c.G6490A:p.A2164T,DST:NM_001144770:exon44:c.G6610A:p.A2204T,DST:NM_001144769:exon46:c.G7024A:p.A2342T,DST:NM_001374729:exon48:c.G12748A:p.A4250T,DST:NM_001374722:exon52:c.G13381A:p.A4461T,DST:NM_001374734:exon52:c.G13408A:p.A4470T,DST:NM_001374736:exon52:c.G13381A:p.A4461T	Epidermolysis bullosa simplex, autosomal recessive 2, Autosomal recessive	1	1519	2	0	0	2	0.000657895	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.00577109827574	.	.	8.912e-06	0	0	0	0	1.615e-05	0	0	6.5e-06	1	154602	rs746788099	5.475e-06	5.472e-06	5.447e-06	5.504e-06	4.498e-06	2.36e-06	1.7e-06	1.32e-06	9.6e-07	0	0	0	0	0	0	4.498e-06	4.973e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.264	0.29158	T	.	.	.	0.934	0.52202	P	0.808	0.58514	P	0.000137	0.49741	D	0.000000	.	.	.	.	.	.	1.37	0.34253	T	-2.67	0.58248	D	0.764	0.76203	-0.8647	0.50922	T	0.186	0.53511	T	9	0.38958645	0.54793	T	0.005771	0.14982	T	0.131	0.35738	.	.	0.537366646314	0.53388	0.2743547010304287	0.27348	0.542912261021	0.51382	0.524302959442	0.42233	T	0.034175	0.23218	T	-0.0209522	0.48717	T	-0.204227	0.54245	T	0.857858419418335	0.50857	D	0.956704	0.84269	D	.	.	.	.	.	.	.	.	-3.155	0.13126	T	.	.	.	.	.	.;.;.;.;.	.;.;.;.;.	3.806600	0.54877	23.5	0.99709047605264078	0.81213	0.94560	0.61563	D	AEFGBCI	0.731095	0.67828	D	0.728441732375221	0.81496	7.53605	0.729045263660068	0.84585	8.33288	0.999999972795849	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.78	5.78	0.91418	5.608000	0.67336	7.664000	0.64404	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.897000	0.43391	0.0:1.0:0.0:0.0	20.017	0.97484	223	0.91367	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1586.33	34	chr6	56572920	.	C	T	1586.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.718;DP=740;ExcessHet=0;FS=4.63;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.68;ReadPosRankSum=-0.413;SOR=0.368	GT:AD:DP:GQ:PL	0/1:53,63:116:99:1600,0,1434	18	0	1	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	0.02632	433.33	27	chr6	73765952	.	G	A	433.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.61;DP=617;ExcessHet=0;FS=4.028;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.48;ReadPosRankSum=0.922;SOR=1.751	GT:AD:DP:GQ:PL	0/1:15,13:28:99:447,0,398	18	0	1	0
chr6	75947467	75947467	C	T	exonic	IMPG1	.	nonsynonymous SNV	IMPG1:NM_001282368:exon13:c.G1657A:p.G553R,IMPG1:NM_001563:exon14:c.G1891A:p.G631R	Macular dystrophy, vitelliform, 4, Autosomal dominant	440	1081	1	0	0	1	0.000462321	.	.	.	945233	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.700	0.0833578954332	.	.	2.492e-05	0	0	0	0	4.53e-05	0	0	3.84e-05	1	26028	rs767150099	1.779e-05	1.779e-05	1.362e-05	2.201e-05	2.989e-05	1.238e-05	1.052e-05	1.093e-05	8.81e-06	2.989e-05	2.238e-05	0	0	5.619e-05	0	1.709e-05	0	2.319e-05	1.315e-05	1.314e-05	1.286e-05	1.346e-05	6.549e-05	2.19e-06	8.2e-07	.	.	0	0	6.549e-05	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	0.000008	0.62929	D	0.000000	1	0.81001	D	2.545	0.74286	M	0.5	0.55608	T	-7.78	0.95870	D	0.985	0.99929	-0.3553	0.73400	T	0.347	0.71155	T	10	0.9613362	0.95547	D	0.083358	0.74099	D	0.700	0.89192	0.855	0.95491	0.916099196364	0.91525	0.8981260734349226	0.89783	0.0996061284925	0.11245	0.667738318443	0.62514	T	0.367708	0.73273	T	0.229854	0.76708	D	0.20005	0.83134	D	0.994624197483063	0.86028	D	0.966703	0.87848	D	0.86513114	0.88480	0.88026994	0.93580	0.86513114	0.88482	0.88026994	0.93580	-10.095	0.74478	D	.	.	0.902	0.82870	P	.;.	.;.	4.967164	0.82174	27.7	0.99942694253402964	0.99848	0.98069	0.79335	D	AEFBI	0.927596	0.91051	D	0.916752414986356	0.92556	11.491	0.896057872759233	0.95397	13.58445	0.999999998239433	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.86	5.86	0.93936	7.568000	0.81546	4.034000	0.41364	0.599000	0.40250	1.000000	0.71638	0.982000	0.30508	0.996000	0.76049	0.0:1.0:0.0:0.0	20.200	0.98258	421	0.81399	SEA domain|SEA domain|SEA domain;SEA domain|SEA domain|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	.	.	.	.	.	.	.	.	0.02632	893.33	33	chr6	75947467	.	C	T	893.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.2;DP=720;ExcessHet=0;FS=0.819;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.04;ReadPosRankSum=1.87;SOR=0.545	GT:AD:DP:GQ:PL	0/1:54,35:89:99:907,0,1438	18	0	1	0
chr6	77690736	77690736	C	T	exonic	MEI4	.	nonsynonymous SNV	MEI4:NM_001282136:exon2:c.C65T:p.S22L,MEI4:NM_001322247:exon2:c.C65T:p.S22L	.	571	947	4	0	0	4	0.00210748	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055747346893	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1356624369	6.485e-06	6.156e-06	5.264e-06	7.85e-06	0.0003	2.7e-06	1.73e-06	0.0001	6.511e-05	0	0	0	0	0	0.0003	0	2.289e-05	0.0003	2.63e-05	2.626e-05	1.287e-05	4.034e-05	0.0006	8.15e-06	5.14e-06	0.0002	8.992e-05	0	0	0	0	0	0	0	1.472e-05	0	0.0006	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.631	0.64478	.	.	.	.	.	.	.	0.6804706	0.71248	D	0.055747	0.66348	D	.	.	.	.	0.683105768163	0.68040	0.5936526327615168	0.59295	.	.	.	.	.	0.073207	0.34642	T	0.528569	0.95145	D	0.521477	0.95073	D	.	.	.	0.870713	0.57574	D	0.3927873	0.60229	0.53919405	0.73369	0.3927873	0.60230	0.53919405	0.73369	-6.765	0.52298	T	.	.	0.298	0.52793	B	.;.	.;.	4.023463	0.59445	24.1	0.74065718728824625	0.10557	0.95247	0.63985	D	AEFI	0.609578	0.59873	D	.	.	.	.	.	.	0.952444567967318	0.28016	0.074636	0.01641	0	0.063388	0.01293	0	0.078618	0.02440	0	0.058706	0.01089	0	.	.	5.92	5.92	0.95557	5.346000	0.65762	4.891000	0.45764	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.986000	0.61781	0.0:1.0:0.0:0.0	19.315	0.94196	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	.	.	.	.	.	.	.	.	0.02632	2120.33	33	chr6	77690736	.	C	T	2120.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.565;DP=776;ExcessHet=0;FS=10.971;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.71;ReadPosRankSum=-1.28;SOR=0.183	GT:AD:DP:GQ:PL	0/1:64,71:135:99:2134,0,2003	18	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	.	.	.	.	.	.	.	.	0.3571	8032.55	22	chr6	80007990	.	G	C	8032.55	.	AC=10;AF=0.357;AN=28;BaseQRankSum=-2.203;DP=910;ExcessHet=8.9063;FS=213.455;InbreedingCoeff=-0.5526;MLEAC=12;MLEAF=0.429;MQ=60;MQRankSum=0;QD=13.17;ReadPosRankSum=0.928;SOR=11.106	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:38,14:52:99:0|1:80007990_G_C:382,0,1451:80007990	4	0	10	5
chr6	80007992	80007997	GTTTTG	-	exonic	TTK	.	nonframeshift deletion	TTK:NM_001166691:exon3:c.323_328del:p.S108_A110delinsT,TTK:NM_003318:exon3:c.323_328del:p.S108_A110delinsT	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	7038.11	53	chr6	80007991	.	AGTTTTG	A	7038.11	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-2.306;DP=1098;ExcessHet=8.9063;FS=201.643;InbreedingCoeff=-0.4074;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=0.705;SOR=11.067	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,14:53:99:0|1:80007990_G_C:379,0,1493:80007990	16	0	3	0
chr6	80007992	80007992	G	0	exonic	TTK	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4583	394.98	21	chr6	80007992	.	G	*	394.98	.	AC=11;AF=0.458;AN=24;BaseQRankSum=0.548;DP=887;ExcessHet=22.5857;FS=247.209;InbreedingCoeff=-0.5703;MLEAC=15;MLEAF=0.625;MQ=60;MQRankSum=0;QD=0.62;ReadPosRankSum=1.65;SOR=11.394	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:28,14:50:99:1|0:80007990_G_C:436,0,1403:80007990	1	0	11	7
chr6	80007997	80007997	-	CCCCCA	exonic	TTK	.	nonframeshift insertion	TTK:NM_001166691:exon3:c.328_329insCCCCCA:p.A110_R111insPT,TTK:NM_003318:exon3:c.328_329insCCCCCA:p.A110_R111insPT	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	2153.55	42	chr6	80007997	.	G	GCCCCCA	2153.55	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-1.71;DP=869;ExcessHet=0.7564;FS=172.724;InbreedingCoeff=-0.1206;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=10.77;ReadPosRankSum=1.07;SOR=8.472	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:38,13:51:99:0|1:80007990_G_C:340,0,1461:80007990	15	0	4	0
chr6	84153023	84153023	C	T	exonic	CEP162	.	nonsynonymous SNV	CEP162:NM_001286206:exon23:c.G2923A:p.V975I,CEP162:NM_014895:exon23:c.G3151A:p.V1051I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00250861124224	.	.	.	.	.	.	.	.	.	.	.	.	.	rs929031030	3.422e-05	3.42e-05	2.723e-05	4.127e-05	4.138e-05	2.632e-05	2.376e-05	3.171e-05	2.836e-05	0	0	0	0	3.749e-05	0	4.138e-05	3.314e-05	0	1.973e-05	1.97e-05	1.285e-05	2.693e-05	6.558e-05	5.25e-06	2.46e-06	4.88e-06	1.83e-06	0	0	6.558e-05	0	0	0	0	2.941e-05	0	0	0.505	0.07619	T	0.3	0.20357	T	0.003	0.11197	B	0.001	0.04355	B	0.079876	0.02342	N	1.875910	1	0.08975	N	0.55	0.14455	N	2.27	0.17431	T	-0.19	0.10480	N	0.042	0.07125	-0.9846	0.33927	T	0.008	0.02760	T	10	0.025091708	0.00714	T	0.002509	0.05009	T	0.011	0.01250	0.125	0.03095	0.0666544352282	0.05500	0.05561298688972731	0.05502	0.0160829664501	0.01538	0.238003194332	0.02613	T	0.011098	0.09944	T	-0.424775	0.01595	T	-0.847937	0.00986	T	0.0169541921677188	0.00446	T	0.483152	0.14651	T	0.023678016	0.01129	0.023108987	0.00326	0.023678016	0.01129	0.023108987	0.00326	-3.156	0.11951	T	.	.	0.066	0.02257	B	.;.;.	.;.;.	-0.398422	0.02218	0.223	0.66884827922099976	0.08190	0.01091	0.04015	N	AEFBI	0.027755	0.02325	N	-1.58412433396166	0.01346	0.05863616	-1.61268335485511	0.01580	0.07164378	4.7045798492795E-4	0.07066	0.651	0.46895	0	0.653731	0.59785	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	4.86	-4.09	0.03685	-0.326000	0.08008	-0.545000	0.08561	-0.231000	0.07715	0.000000	0.06391	0.000000	0.08366	0.132000	0.19645	0.1595:0.2832:0.0828:0.4745	3.398	0.06890	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	.	.	.	.	.	.	.	.	0.02632	2367.33	34	chr6	84153023	.	C	T	2367.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.9;DP=792;ExcessHet=0;FS=2.628;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.61;ReadPosRankSum=-1.339;SOR=0.521	GT:AD:DP:GQ:PL	0/1:84,90:174:99:2381,0,2007	18	0	1	0
chr6	106555849	106555849	G	A	exonic	CRYBG1	.	nonsynonymous SNV	CRYBG1:NM_001624:exon15:c.G4443A:p.M1481I,CRYBG1:NM_001371242:exon17:c.G5667A:p.M1889I	.	431	1088	3	0	0	3	0.00137678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.736	0.0941362744861	7.7e-05	0.000199681	0.0003	9.61e-05	0.0002	0	0	1.498e-05	0	0.0018	0.0002264	35	154602	rs374909027	0.0001	0.0001	6.67e-05	0.0002	0.0017	0.0001	0.0001	0.0014	0.0014	2.987e-05	8.944e-05	0	0	0	0.0003	1.889e-05	0.0002	0.0017	8.535e-05	8.53e-05	3.854e-05	0.0001	0.0021	4.953e-05	3.96e-05	0.0011	0.0009	2.405e-05	0	0	0	0	0	0	1.47e-05	0.0005	0.0021	0.004	0.65419	D	0.0	0.92824	D	0.987	0.61912	D	0.953	0.69275	D	0.000000	0.84330	D	0.034664	1	0.81001	D	.	.	.	-0.97	0.75670	T	-3.62	0.69593	D	0.756	0.84713	-0.0534	0.81134	T	0.540	0.83056	D	10	0.087102264	0.14870	T	0.094136	0.76198	D	0.736	0.90808	0.824	0.93592	0.898140056634	0.89712	0.5861213917238782	0.58542	0.478301125626	0.46915	0.546212255955	0.45322	T	0.407476	0.76308	T	0.0474211	0.58011	T	0.288077	0.87551	D	0.155494347006623	0.17532	T	0.860614	0.55382	D	0.78316563	0.82848	0.74334973	0.84829	0.78316563	0.82850	0.74334973	0.84830	-9.583	0.71375	D	.	.	0.618	0.70515	P	.;.;.	.;.;.	4.089163	0.60890	24.3	0.99707613183118571	0.81074	0.94540	0.61497	D	AEFBCIJ	0.665104	0.63404	D	0.779407125538222	0.84802	8.390551	0.754863333210179	0.86519	8.915599	0.999999999701195	0.74766	0.732398	0.92422	0	0.697927	0.68747	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.35	5.35	0.76297	6.278000	0.72640	11.836000	0.97677	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.428	0.94741	719	0.55657	Beta/gamma crystallin|Beta/gamma crystallin|Beta/gamma crystallin;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	.	.	.	.	.	.	.	.	0.02632	1761.33	39	chr6	106555849	.	G	A	1761.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.72;DP=802;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.06;ReadPosRankSum=2.11;SOR=0.659	GT:AD:DP:GQ:PL	0/1:83,63:146:99:1775,0,2123	18	0	1	0
chr6	110438794	110438794	C	T	exonic	SLC22A16	.	nonsynonymous SNV	SLC22A16:NM_033125:exon5:c.G1237A:p.G413R	.	432	1087	3	0	0	3	0.00137804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.767	0.394114823971	.	0.000199681	3.297e-05	0	8.646e-05	0	0	4.499e-05	0	0	3.23e-05	5	154602	rs149722400	1.984e-05	1.984e-05	1.497e-05	2.475e-05	0.0002	1.392e-05	1.203e-05	2.995e-05	2.038e-05	2.987e-05	0	0	2.519e-05	0	0.0002	1.709e-05	1.656e-05	6.957e-05	5.254e-05	5.25e-05	5.14e-05	5.372e-05	0.0002	2.556e-05	1.829e-05	1.972e-05	1.124e-05	4.813e-05	0	0	0	0	0	0.0034	5.88e-05	0	0.0002	0.01	0.91255	D	0.007	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999991	0.58761	D	3.435	0.92070	M	-2.53	0.89430	D	-6.45	0.94729	D	0.765	0.76666	1.031	0.97744	D	0.883	0.96122	D	10	0.9584457	0.95227	D	0.394115	0.93254	D	0.767	0.92129	0.934	0.99018	0.444807159249	0.44105	0.9064590640990151	0.90618	0.120914663314	0.13617	0.320912450552	0.13560	T	0.299808	0.67232	T	0.264545	0.79947	D	0.311353	0.88717	D	0.95579993724823	0.64596	D	0.90391	0.66280	D	0.625159	0.74039	0.49901792	0.71034	0.625159	0.74040	0.49901792	0.71034	-7.22	0.55625	T	.	.	0.890	0.83541	P	.;.;.;.	.;.;.;.	4.292165	0.65461	24.8	0.99865353644856658	0.94366	0.95151	0.63625	D	AEFBI	0.793755	0.72166	D	0.667392915492929	0.77499	6.68636	0.478744021256911	0.66585	4.971099	0.999958979950705	0.48110	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.98	4.98	0.65679	5.170000	0.64828	4.442000	0.43389	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.031000	0.13245	0.0:1.0:0.0:0.0	18.247	0.89927	479	0.77495	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	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	891.33	35	chr6	110438794	.	C	T	891.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.22;DP=702;ExcessHet=0;FS=2.983;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.87;ReadPosRankSum=-0.047;SOR=1.093	GT:AD:DP:GQ:PL	0/1:47,35:82:99:905,0,1098	18	0	1	0
chr6	117379068	117379068	C	T	exonic	ROS1	.	nonsynonymous SNV	ROS1:NM_002944:exon17:c.G2588A:p.R863Q,ROS1:NM_001378891:exon18:c.G2573A:p.R858Q,ROS1:NM_001378902:exon18:c.G2573A:p.R858Q	.	.	.	.	.	.	.	.	.	.	.	2357963	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.250	0.0242126532284	0.0002	.	5.794e-05	0.0002	0	0	0	6.016e-05	0	6.128e-05	5.17e-05	8	154602	rs142979736	6.945e-05	7.183e-05	6.843e-05	7.048e-05	0.0003	5.81e-05	5.419e-05	6.814e-05	6.311e-05	0	2.276e-05	3.857e-05	5.048e-05	0	0.0003	8.219e-05	4.993e-05	1.173e-05	3.945e-05	3.941e-05	5.143e-05	2.691e-05	9.657e-05	1.716e-05	1.13e-05	3.251e-05	1.916e-05	9.657e-05	0	0	0	0	0	0	2.942e-05	0	0	0.432	0.10180	T	0.1	0.38742	T	0.999	0.77913	D	0.805	0.58399	P	0.102384	0.19795	N	0.439796	0.586758	0.31054	N	1.7	0.43825	L	-0.48	0.70249	T	-0.13	0.08971	N	0.447	0.55106	-0.6178	0.64080	T	0.229	0.59484	T	10	0.28836483	0.46418	T	0.024213	0.47195	T	0.250	0.55888	.	.	0.529210848824	0.52569	0.24712110327579034	0.24626	0.178406829687	0.20072	0.404888182878	0.25748	T	0.083829	0.37143	T	-0.190196	0.22229	T	-0.274311	0.47384	T	0.194888484073546	0.20129	T	0.779122	0.41282	T	0.097247094	0.22920	0.06651537	0.13637	0.097247094	0.22920	0.06651537	0.13636	-3.631	0.18306	T	0.1870325243961725	0.24369	0.094	0.21466	B	.;.	.;.	3.970696	0.58303	24.0	0.99919945969140223	0.98654	0.95321	0.64266	D	AEFBI	0.342625	0.43872	N	0.344898591930903	0.58469	4.019501	0.351398184571919	0.58592	4.030642	0.522349580477172	0.21107	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.91	3.91	0.44383	2.129000	0.41677	7.039000	0.57330	0.599000	0.40250	0.984000	0.35821	1.000000	0.68203	0.974000	0.55675	0.0:1.0:0.0:0.0	14.253	0.65583	669	0.61081	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1508.33	33	chr6	117379068	.	C	T	1508.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.044;DP=758;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.17;ReadPosRankSum=0.273;SOR=0.639	GT:AD:DP:GQ:PL	0/1:72,63:135:99:1522,0,1794	18	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	0.02632	1437.33	37	chr6	117387836	.	G	A	1437.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.767;DP=851;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.52;ReadPosRankSum=0.428;SOR=0.676	GT:AD:DP:GQ:PL	0/1:46,53:99:99:1451,0,1265	18	0	1	0
chr6	125874948	125874948	C	T	exonic	NCOA7	.	nonsynonymous SNV	NCOA7:NM_001199621:exon3:c.C19T:p.H7Y,NCOA7:NM_001122842:exon4:c.C331T:p.H111Y,NCOA7:NM_181782:exon4:c.C331T:p.H111Y,NCOA7:NM_001199619:exon5:c.C331T:p.H111Y,NCOA7:NM_001199620:exon6:c.C331T:p.H111Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.00878033068884	.	.	8.247e-06	0	0	0	0	0	0.0011	0	3.84e-05	1	26028	rs750270959	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	0.56456	T	0.053	0.61642	T	0.664	0.41009	P	0.175	0.35598	B	0.000203	0.47681	D	0.184740	0.974496	0.25488	N	1.845	0.48678	L	2.74	0.47477	T	-1.0	0.54059	N	0.452	0.49055	-1.1048	0.03557	T	0.033	0.14377	T	10	0.06749788	0.09413	T	0.00878	0.23172	T	0.049	0.13647	0.24	0.17218	0.102598925029	0.09809	0.27740907516128704	0.27653	0.188505298448	0.21172	0.380751460791	0.22363	T	0.012033	0.41624	T	-0.119869	0.33145	T	-0.40996	0.32230	T	0.215145289897919	0.21219	T	0.892511	0.62902	D	0.032754228	0.03360	0.05167591	0.08365	0.032754228	0.03359	0.05167591	0.08364	-8.966	0.67478	D	.	.	0.085	0.22282	B	.;.;.;.;.	.;.;.;.;.	2.173789	0.27700	17.55	0.98833618248659794	0.47002	0.72655	0.35555	D	AEFBI	0.075013	0.15051	N	-0.190114346238506	0.33546	1.904329	-0.0711355268731635	0.36588	2.131266	0.982518052919571	0.30410	0.706548	0.73137	0	0.724815	0.89359	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	5.35	4.48	0.53973	2.047000	0.40893	5.892000	0.50774	-0.180000	0.10397	0.969000	0.34210	1.000000	0.68203	0.539000	0.29915	0.1535:0.7712:0.0:0.0753	8.606	0.32935	833	0.38804	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	862.33	33	chr6	125874948	.	C	T	862.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.66;DP=690;ExcessHet=0;FS=10.444;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.07;ReadPosRankSum=0.231;SOR=1.293	GT:AD:DP:GQ:PL	0/1:35,31:66:99:876,0,847	18	0	1	0
chr6	132538562	132538562	G	-	exonic	TAAR9	.	frameshift deletion	TAAR9:NM_175057:exon1:c.273delG:p.R92Gfs*47	.	426	1072	23	1	0	25	0.011526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.1e-05	.	0.0036	0.0001	0.0002	0.0001	0	0.0002	0.0035	0.0305	0.0001153	3	26028	rs748653127	0.0020	0.0020	0.0012	0.0028	0.0311	0.0019	0.0019	0.0301	0.0297	9.101e-05	9.225e-05	0	5.048e-05	0	0.0051	8.411e-05	0.0022	0.0311	0.0012	0.0012	0.0006	0.0018	0.0345	0.0011	0.0010	0.0303	0.0286	7.221e-05	0.0011	0.0003	0	0.0002	0	0	7.353e-05	0.0019	0.0345	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002518	0.000000	0.000000	0.002924	0.000000	0.008621	0.003049	0.011364	0.02632	1829.29	33	chr6	132538561	.	TG	T	1829.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.852;DP=1247;ExcessHet=0;FS=4.898;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.65;ReadPosRankSum=-1.045;SOR=0.812	GT:AD:DP:GQ:PL	0/1:99,58:157:99:1843,0,3505	18	0	1	0
chr6	156778871	156778871	-	GGA	exonic	ARID1B	.	nonframeshift insertion	ARID1B:NM_001374820:exon1:c.1191_1192insGGA:p.G402_S403insG,ARID1B:NM_001374828:exon1:c.1191_1192insGGA:p.G402_S403insG,ARID1B:NM_017519:exon1:c.1191_1192insGGA:p.G402_S403insG,ARID1B:NM_001371656:exon2:c.1191_1192insGGA:p.G402_S403insG	Coffin-Siris syndrome 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	579222	not_provided|ARID1B-related_disorder|Inborn_genetic_diseases	MedGen:C3661900|.|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0	0	0	.	0.0015	0	0	3.84e-05	1	26028	rs748785872	9.722e-05	0.0004	8.858e-05	0.0001	0.0004	8.249e-05	7.676e-05	0.0002	0.0002	8.497e-05	0.0002	0	0.0004	0	0	8.245e-05	0.0002	0.0002	7.487e-05	8.638e-05	6.652e-05	8.362e-05	0.0012	4.11e-05	3.228e-05	0.0005	0.0004	2.494e-05	0	0	0	0.0012	0	0	4.529e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2594.78	41	chr6	156778871	.	C	CGGA	2594.78	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.434;DP=772;ExcessHet=0.119;FS=5.513;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=21.1;ReadPosRankSum=0.096;SOR=0.896	GT:AD:DP:GQ:PL	0/1:32,43:75:99:1691,0,1154	18	0	1	0
chr6	167976202	167976202	G	0	exonic	HGC6.3	.	.	.	.	547	870	80	2	23	107	0.0460526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	5720.2	79	chr6	167976202	.	G	*	5720.2	.	AC=3;AF=0.083;AN=36;BaseQRankSum=0.631;DP=1057;ExcessHet=2.9153;FS=4.05;InbreedingCoeff=-0.2472;MLEAC=3;MLEAF=0.083;MQ=53.24;MQRankSum=2.93;QD=10.77;ReadPosRankSum=0.818;SOR=0.878	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,27:93:99:0|1:167976186_T_C:935,0,2690:167976186	15	0	3	1
chr6	167976212	167976212	A	0	exonic	HGC6.3	.	.	.	.	463	956	84	1	18	104	0.043043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08824	5284.85	73	chr6	167976212	.	A	*	5284.85	.	AC=3;AF=0.088;AN=34;BaseQRankSum=0.889;DP=1048;ExcessHet=0.7503;FS=4.987;InbreedingCoeff=0.0409;MLEAC=3;MLEAF=0.088;MQ=51.56;MQRankSum=2.66;QD=9.99;ReadPosRankSum=0.83;SOR=0.917	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,27:93:99:0|1:167976186_T_C:935,0,2690:167976186	14	0	3	2
chr6	167976228	167976228	T	0	exonic	HGC6.3	.	.	.	.	453	974	78	0	17	95	0.0384995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08824	4068.23	72	chr6	167976228	.	T	*	4068.23	.	AC=3;AF=0.088;AN=34;BaseQRankSum=1.79;DP=1040;ExcessHet=3.116;FS=7.088;InbreedingCoeff=-0.0808;MLEAC=3;MLEAF=0.088;MQ=50.27;MQRankSum=1.4;QD=7.84;ReadPosRankSum=-0.382;SOR=1.01	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,27:93:99:0|1:167976186_T_C:935,0,2690:167976186	14	0	3	2
chr6	167976244	167976288	TGGGGAAGGAGGAGGCAGTGGGGGTCATTACCCCTGCAGTGTGTT	-	exonic	HGC6.3	.	nonframeshift deletion	HGC6.3:NM_001129895:exon1:c.365_409del:p.Q122_T137delinsP	.	435	1081	5	0	1	6	0.00230734	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0	0	0	0	0.0006	0	0.0003	0.0001921	5	26028	rs773489020	0.0019	0.0015	0.0016	0.0022	0.0099	0.0018	0.0018	0.0092	0.0089	0.0002	0.0028	0.0029	0.0085	0.0063	0.0010	0.0012	0.0026	0.0099	0.0051	0.0049	0.0043	0.0059	0.0156	0.0047	0.0046	0.0117	0.0104	0.0021	0.0075	0.0079	0.0035	0.0156	0.0071	0	0.0051	0.0079	0.0110	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	3195.76	59	chr6	167976243	.	GTGGGGAAGGAGGAGGCAGTGGGGGTCATTACCCCTGCAGTGTGTT	G	3195.76	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.009;DP=969;ExcessHet=0.3672;FS=2.119;InbreedingCoeff=-0.0858;MLEAC=3;MLEAF=0.079;MQ=57.47;MQRankSum=-1.437;QD=11.02;ReadPosRankSum=0.235;SOR=0.834	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,25:80:99:0|1:167976186_T_C:884,0,2234:167976186	16	0	3	0
chr6	167976245	167976245	G	0	exonic	HGC6.3	.	.	.	.	448	1014	2	0	58	60	0.000985222	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	3812.41	67	chr6	167976245	.	G	*	3812.41	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.134;DP=990;ExcessHet=0.6689;FS=6.063;InbreedingCoeff=0.05;MLEAC=3;MLEAF=0.079;MQ=50.69;MQRankSum=-0.375;QD=8.03;ReadPosRankSum=-0.369;SOR=1.099	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,25:80:99:0|1:167976186_T_C:884,0,2234:167976186	16	0	3	0
chr6	167976249	167976291	AAGGAGGAGGCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGG	0	exonic	HGC6.3	.	.	.	.	467	870	90	30	65	215	0.0793651	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	6299.23	29	chr6	167976249	.	AAGGAGGAGGCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGG	*	6299.23	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.61;DP=951;ExcessHet=0.145;FS=3.209;InbreedingCoeff=0.2692;MLEAC=3;MLEAF=0.079;MQ=53.73;MQRankSum=-4.637;QD=11.64;ReadPosRankSum=-0.112;SOR=0.511	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,25:80:99:0|1:167976186_T_C:884,0,2234:167976186	16	0	3	0
chr6	167976271	167976271	T	0	exonic	HGC6.3	.	.	.	.	531	815	51	0	125	176	0.0303391	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2222	770.82	29	chr6	167976271	.	T	*	770.82	.	AC=8;AF=0.222;AN=36;BaseQRankSum=3.2;DP=918;ExcessHet=0.0665;FS=4.958;InbreedingCoeff=0.3504;MLEAC=8;MLEAF=0.222;MQ=51.17;MQRankSum=-5.196;QD=1.72;ReadPosRankSum=-0.883;SOR=0.463	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,25:80:99:0|1:167976186_T_C:884,0,2234:167976186	12	2	4	1
chr6	167976273	167976273	A	0	exonic	HGC6.3	.	.	.	.	664	522	164	53	119	389	0.205479	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	3205.38	29	chr6	167976273	.	A	*	3205.38	.	AC=9;AF=0.25;AN=36;BaseQRankSum=-0.21;DP=943;ExcessHet=0.0378;FS=5.934;InbreedingCoeff=0.3968;MLEAC=9;MLEAF=0.25;MQ=56.14;MQRankSum=-2.716;QD=6.51;ReadPosRankSum=0.409;SOR=0.525	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:35,24:59:99:1|0:167976186_T_C:899,0,1439:167976186	11	2	5	1
chr6	167976313	167976313	T	C	exonic	HGC6.3	.	nonsynonymous SNV	HGC6.3:NM_001129895:exon1:c.A340G:p.M114V	.	462	1045	14	0	1	15	0.00665399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0	0	0	0	0	0	0	0.0018826	49	26028	rs36129172	0.0024	0.0016	0.0021	0.0028	0.0160	0.0023	0.0023	0.0148	0.0144	0.0001	0.0052	0.0046	0.0042	0.0082	0.0017	0.0016	0.0033	0.0160	0.0057	0.0064	0.0050	0.0065	0.0131	0.0053	0.0052	0.0093	0.0080	0.0021	0.0132	0.0092	0.0042	0.0131	0.0071	0	0.0062	0.0079	0.0120	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007812	0.000000	0.046667	0.000000	0.000000	0.045455	0.000000	0.000000	0.07895	2469.79	40	chr6	167976313	.	T	C	2469.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.19;DP=941;ExcessHet=0.3672;FS=11.906;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=56.63;MQRankSum=-1.376;QD=10.65;ReadPosRankSum=1.38;SOR=1.243	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:38,19:57:99:0|1:167976186_T_C:683,0,1538:167976186	16	0	3	0
chr6	167976332	167976332	G	0	exonic	HGC6.3	.	.	.	.	448	1017	42	0	15	57	0.0202312	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	1448.95	41	chr6	167976332	.	G	*	1448.95	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-2.375;DP=985;ExcessHet=1.3;FS=5.804;InbreedingCoeff=-0.1515;MLEAC=3;MLEAF=0.079;MQ=54.14;MQRankSum=1.4;QD=4.27;ReadPosRankSum=-0.056;SOR=0.489	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:45,18:63:99:0|1:167976186_T_C:620,0,1835:167976186	16	0	3	0
chr6	167976347	167976371	GGGGGTCATTCCCCCTGCAGTGTGG	-	exonic	HGC6.3	.	frameshift deletion	HGC6.3:NM_001129895:exon1:c.282_306del:p.H95Lfs*12	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs1487569600	0.0016	0.0011	0.0014	0.0019	0.0089	0.0015	0.0015	0.0082	0.0079	0.0001	0.0043	0.0034	0.0024	0.0059	0.0012	0.0011	0.0022	0.0089	0.0043	0.0047	0.0038	0.0048	0.0084	0.0040	0.0038	0.0060	0.0052	0.0017	0.0076	0.0064	0.0036	0.0084	0.0045	0	0.0047	0.0061	0.0074	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	2157.63	47	chr6	167976346	.	TGGGGGTCATTCCCCCTGCAGTGTGG	T	2157.63	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.871;DP=1032;ExcessHet=0.7564;FS=9.385;InbreedingCoeff=-0.1176;MLEAC=3;MLEAF=0.079;MQ=55.02;MQRankSum=-0.624;QD=6.29;ReadPosRankSum=2.01;SOR=0.99	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:50,18:68:99:0|1:167976186_T_C:605,0,2045:167976186	16	0	3	0
chr6	167976349	167976349	G	0	exonic	HGC6.3	.	.	.	.	482	915	83	38	4	163	0.0799397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05882	6818.0	47	chr6	167976349	.	G	*	6818.0	.	AC=2;AF=0.059;AN=34;BaseQRankSum=-0.091;DP=1029;ExcessHet=0.0665;FS=4.161;InbreedingCoeff=0.2706;MLEAC=2;MLEAF=0.059;MQ=53.61;MQRankSum=-1.638;QD=13.16;ReadPosRankSum=0.208;SOR=0.97	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:50,18:68:99:0|1:167976186_T_C:605,0,2045:167976186	15	0	2	2
chr6	167976380	167976415	GAAGACAGTGGGGGTCATTCCCCCTGCAGTGTGGGG	-	exonic	HGC6.3	.	nonframeshift deletion	HGC6.3:NM_001129895:exon1:c.238_273del:p.P80_F91del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs1194754376	0.0015	0.0011	0.0013	0.0017	0.0082	0.0014	0.0014	0.0074	0.0072	0.0001	0.0031	0.0032	0.0022	0.0052	0.0006	0.0010	0.0021	0.0082	0.0038	0.0043	0.0034	0.0042	0.0072	0.0035	0.0034	0.0052	0.0045	0.0016	0.0069	0.0058	0.0027	0.0072	0.0043	0	0.0041	0.0048	0.0061	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	1746.75	74	chr6	167976379	.	AGAAGACAGTGGGGGTCATTCCCCCTGCAGTGTGGGG	A	1746.75	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.679;DP=1083;ExcessHet=0.3672;FS=8.824;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=56.2;MQRankSum=-2.093;QD=7.04;ReadPosRankSum=1.17;SOR=1.174	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:54,17:71:99:0|1:167976186_T_C:551,0,2216:167976186	16	0	3	0
chr6	167976421	167976426	AGAAGA	-	exonic	HGC6.3	.	nonframeshift deletion	HGC6.3:NM_001129895:exon1:c.227_232del:p.V76_S78delinsA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1465520346	0.0015	0.0011	0.0013	0.0017	0.0083	0.0014	0.0014	0.0075	0.0072	0.0001	0.0042	0.0034	0.0019	0.0063	0.0006	0.0010	0.0020	0.0083	0.0037	0.0044	0.0034	0.0039	0.0072	0.0034	0.0033	0.0051	0.0043	0.0015	0.0076	0.0054	0.0034	0.0072	0.0034	0	0.0043	0.0048	0.0051	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08824	1866.2	67	chr6	167976420	.	GAGAAGA	G	1866.2	.	AC=3;AF=0.088;AN=34;BaseQRankSum=0.709;DP=1044;ExcessHet=0.4139;FS=9.076;InbreedingCoeff=0.1556;MLEAC=3;MLEAF=0.088;MQ=56.37;MQRankSum=-1.778;QD=8.44;ReadPosRankSum=0.41;SOR=0.928	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:46,16:62:99:0|1:167976186_T_C:533,0,1870:167976186	14	0	3	2
chr6	169643735	169643735	A	C	exonic	WDR27	.	nonsynonymous SNV	WDR27:NM_001350623:exon12:c.T1136G:p.F379C,WDR27:NM_001202550:exon14:c.T1328G:p.F443C,WDR27:NM_182552:exon17:c.T1709G:p.F570C	.	424	1077	20	1	0	22	0.0101103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.223	.	0.0019	0.00199681	0.0033	0.0002	0.0007	0.0001	0.0003	0.0028	0.0058	0.0116	0.0029883	462	154602	rs201488884	0.0030	0.0030	0.0027	0.0033	0.0103	0.0029	0.0029	0.0097	0.0095	0.0003	0.0006	0.0049	2.519e-05	0.0004	0.0055	0.0028	0.0025	0.0103	0.0017	0.0017	0.0013	0.0021	0.0093	0.0015	0.0015	0.0072	0.0064	0.0002	0.0011	0.0005	0.0058	0	0.0004	0	0.0025	0.0024	0.0093	0.059	0.41915	T	0.026	0.55759	D	0.125	0.26866	B	0.054	0.25828	B	0.000722	0.42129	N	0.162064	0.962745	0.26053	N	.	.	.	0.88	0.46028	T	-5.47	0.85617	D	0.697	0.70175	-1.1034	0.03704	T	0.048	0.20632	T	10	0.0104136765	0.00232	T	.	.	.	0.223	0.52023	.	.	0.317084106153	0.31322	0.6679455183724466	0.66732	0.0347088691901	0.03653	0.491202026606	0.37605	T	.	.	.	-0.299942	0.08665	T	-0.195661	0.55057	T	0.024951494631161	0.01266	T	0.610439	0.23144	T	.	.	.	.	.	.	.	.	-10.066	0.74306	D	.	.	0.508	0.64961	A	.;.	.;.	2.575787	0.33383	19.32	0.63786348692542427	0.07317	0.80755	0.40312	D	AEFDGBI	0.219621	0.34448	N	-0.316615539543791	0.28517	1.573558	-0.296224608995896	0.28223	1.571886	0.337649845183437	0.19551	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.19	4.0	0.45673	3.009000	0.49239	6.112000	0.53677	0.688000	0.82842	0.998000	0.41325	0.999000	0.35428	0.057000	0.15750	0.8452:0.1548:0.0:0.0	11.176	0.47825	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	0.003525	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.011364	0.02632	726.33	36	chr6	169643735	.	A	C	726.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.56;DP=680;ExcessHet=0;FS=6.386;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.23;ReadPosRankSum=0.538;SOR=1.46	GT:AD:DP:GQ:PL	0/1:42,29:71:99:740,0,1002	18	0	1	0
chr6	169668011	169668011	T	G	exonic	WDR27	.	nonsynonymous SNV	WDR27:NM_182552:exon5:c.A631C:p.I211L	.	442	1058	22	0	0	22	0.01029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	.	0.0050	0.00279553	0.0064	0.0006	0.0013	0.0001	0.0014	0.0081	0.0058	0.0117	0.006009	929	154602	rs41265387	0.0069	0.0069	0.0068	0.0071	0.0104	0.0068	0.0068	0.0099	0.0096	0.0009	0.0016	0.0094	5.038e-05	0.0017	0.0062	0.0076	0.0054	0.0104	0.0044	0.0044	0.0045	0.0044	0.0093	0.0041	0.0040	0.0072	0.0066	0.0010	0.0011	0.0018	0.0107	0	0.0010	0	0.0074	0.0033	0.0093	0.022	0.48642	D	0.003	0.76473	D	.	.	.	.	.	.	0.412623	0.12976	N	0.685094	0.999763	0.48888	D	.	.	.	0.25	0.59449	T	-1.59	0.38345	N	0.433	0.47208	-1.0617	0.11336	T	0.028	0.12014	T	10	0.010516435	0.00234	T	.	.	.	0.073	0.21317	.	.	0.0920862733494	0.08535	0.3853289265288596	0.38447	0.0216781632593	0.02158	0.496599763632	0.38354	T	.	.	.	-0.480738	0.00732	T	-0.453928	0.27263	T	0.0081475625995667	0.00097	T	0.471453	0.13989	T	.	.	.	.	.	.	.	.	-8.103	0.61771	D	.	.	0.254	0.48867	B	.	.	1.134433	0.15214	11.68	0.86944439522738426	0.16880	0.31738	0.24413	N	AEFDBI	0.084421	0.17110	N	-1.23283867193284	0.04531	0.2046774	-1.21622574625296	0.05648	0.269726	0.999285255501367	0.39007	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.25	-3.24	0.04779	0.125000	0.15577	-2.347000	0.03869	0.663000	0.56723	0.228000	0.24622	0.000000	0.08366	0.091000	0.17840	0.1234:0.3584:0.1275:0.3907	2.582	0.04527	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	0.004536	0.000000	0.006793	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	2031.33	304	chr6	169668011	.	T	G	2031.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.565;DP=1458;ExcessHet=0;FS=5.315;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.27;ReadPosRankSum=0.079;SOR=1.062	GT:AD:DP:GQ:PL	0/1:60,73:133:99:2045,0,1645	18	0	1	0
chr6	170561952	170561952	A	0	exonic	TBP	.	.	.	Spinocerebellar ataxia 17, Autosomal dominant	48	390	47	5	1032	1089	0.0681004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8158	949.0	153	chr6	170561952	.	A	*	949.0	.	AC=31;AF=0.816;AN=38;DP=3440;ExcessHet=2.0135;FS=1.339;InbreedingCoeff=-0.1874;MLEAC=31;MLEAF=0.816;MQ=60;MQRankSum=0;QD=0.66;ReadPosRankSum=3.29;SOR=0.564	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:72,35:107:99:0|1:170561949_GCAA_G:1090,0,2853:170561949	0	12	7	0
chr6	170561961	170561961	G	0	exonic	TBP	.	.	.	Spinocerebellar ataxia 17, Autosomal dominant	128	893	348	41	112	542	0.194043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	8634.26	89	chr6	170561961	.	G	*	8634.26	.	AC=1;AF=0.063;AN=16;BaseQRankSum=0.057;DP=3237;ExcessHet=0.6689;FS=1.1;InbreedingCoeff=-0.3212;MLEAC=2;MLEAF=0.125;MQ=60;MQRankSum=0;QD=13.08;ReadPosRankSum=0.881;SOR=0.802	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:64,32:97:99:.:.:964,0,3479:.	7	0	1	11
chr6	170561963	170561965	AGC	0	exonic	TBP	.	.	.	Spinocerebellar ataxia 17, Autosomal dominant	68	881	422	129	22	702	0.27846	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03333	36341.4	127	chr6	170561963	.	AGC	*	36341.4	.	AC=1;AF=0.033;AN=30;BaseQRankSum=0.69;DP=3227;ExcessHet=0.1728;FS=1.214;InbreedingCoeff=0.042;MLEAC=1;MLEAF=0.033;MQ=59.93;MQRankSum=0;QD=24.69;ReadPosRankSum=0.599;SOR=0.596	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:2,33:68:99:0|1:170561949_GCAA_G:3232,1065,2172:170561949	14	0	1	4
chr6	170561964	170561964	G	0	exonic	TBP	.	.	.	Spinocerebellar ataxia 17, Autosomal dominant	68	560	433	93	368	987	0.355952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5278	9626.11	127	chr6	170561964	.	G	*	9626.11	.	AC=19;AF=0.528;AN=36;BaseQRankSum=-1.99;DP=3235;ExcessHet=0.2833;FS=3.053;InbreedingCoeff=0.0877;MLEAC=20;MLEAF=0.556;MQ=59.95;MQRankSum=0;QD=5.61;ReadPosRankSum=2.3;SOR=0.516	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,92:94:99:1|1:170561949_GCAA_G:4522,318,0:170561949	5	6	7	1
chr6	170561967	170561967	G	0	exonic	TBP	.	.	.	Spinocerebellar ataxia 17, Autosomal dominant	46	879	60	4	533	601	0.0372399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4737	2380.05	128	chr6	170561967	.	G	*	2380.05	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.939;DP=2816;ExcessHet=1.9883;FS=1.746;InbreedingCoeff=-0.0556;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=1.87;ReadPosRankSum=2.34;SOR=0.583	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:47,33:81:99:0|1:170561949_GCAA_G:1920,0,2976:170561949	6	5	8	0
chr7	193399	193399	C	A	exonic	FAM20C	.	nonsynonymous SNV	FAM20C:NM_020223:exon1:c.C200A:p.P67H	Raine syndrome, Autosomal recessive	8	1490	23	1	0	25	0.00831947	.	.	.	274985	not_provided|Inborn_genetic_diseases|FAM20C-related_disorder|not_specified	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|.|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.195	.	.	0.00119808	0.0043	0	0.0122	0	0	0.0005	0	0.0057	0.0003687	57	154602	rs538469200	0.0009	0.0009	0.0008	0.0011	0.0062	0.0009	0.0009	0.0057	0.0055	0.0002	0.0007	0.0005	0	0	0.0055	0.0007	0.0013	0.0062	0.0006	0.0006	0.0005	0.0007	0.0060	0.0005	0.0005	0.0043	0.0037	2.417e-05	0	0.0002	0	0	0.0001	0	0.0008	0.0005	0.0060	0.003	0.68238	D	0.004	0.74150	D	0.838	0.46404	P	0.339	0.42346	B	0.475723	0.12224	U	0.629044	1	0.08975	N	.	.	.	-2.33	0.87910	D	-1.74	0.41239	N	0.077	0.05162	-0.3468	0.73646	T	0.505	0.81353	D	10	0.0064647794	0.00146	T	.	.	.	0.195	0.47612	.	.	0.184605227958	0.18053	0.5066125202444535	0.50583	1.01481861233	0.74903	0.86919093132	0.92453	D	0.006706	0.06137	T	-0.340585	0.05347	T	-0.259253	0.48899	T	0.0348755269498303	0.02787	T	0.408959	0.10549	T	0.18811204	0.40296	0.17135891	0.39312	0.18811204	0.40296	0.17135891	0.39312	-5.62	0.42975	T	.	.	0.104	0.18828	B	.	.	3.137205	0.42413	21.5	0.9853014225545792	0.42582	0.53231	0.29321	D	AEFDGBCI	0.081821	0.16561	N	-0.0941850455632063	0.37647	2.193307	-0.180500173733775	0.32254	1.833197	0.999999521622467	0.74766	0.65757	0.49021	0	0.547309	0.14657	0	0.619478	0.44681	0	0.375	0.06713	1	.	.	2.87	2.87	0.32523	-0.674000	0.05333	3.066000	0.36180	0.496000	0.22519	0.000000	0.06391	0.054000	0.21897	0.208000	0.22126	0.0:1.0:0.0:0.0	9.426	0.37744	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	0	0	1	0	0.003947	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.023256	0.02632	635.33	33	chr7	193399	.	C	A	635.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.67;DP=650;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.44;ReadPosRankSum=-0.861;SOR=0.608	GT:AD:DP:GQ:PL	0/1:20,24:44:99:649,0,478	18	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	.	.	.	.	.	.	.	.	0.4444	1206.95	21	chr7	290725	.	C	G	1206.95	.	AC=16;AF=0.444;AN=36;BaseQRankSum=-0.395;DP=627;ExcessHet=25.4433;FS=271.165;InbreedingCoeff=-0.7777;MLEAC=17;MLEAF=0.472;MQ=60;MQRankSum=0;QD=2.5;ReadPosRankSum=1.14;SOR=10.646	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:21,10:31:31:.:.:31,0,336:.	2	0	16	1
chr7	1745417	1745417	G	A	exonic	ELFN1	.	nonsynonymous SNV	ELFN1:NM_001128636:exon3:c.G821A:p.R274H	.	331	1189	2	0	0	2	0.000840336	.	.	.	2388603	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	0.0403817579059	.	.	8.22e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs774216724	1.587e-05	2.121e-05	1.709e-05	1.461e-05	0.0002	1.039e-05	8.87e-06	0.0001	7.289e-05	0.0002	0	0	0	0	0	8.348e-06	1.729e-05	6.319e-05	5.913e-05	5.91e-05	5.138e-05	6.724e-05	0.0002	3.077e-05	2.21e-05	9.564e-05	6.962e-05	0.0002	0	0	0	0	0	0.0032	0	0	0	0.306	0.14207	T	0.575	0.08654	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-0.345	0.03330	N	0.24	0.59583	T	-0.5	0.15782	N	0.088	0.06587	.	.	.	.	.	.	.	0.04155159	0.02820	T	0.040382	0.59348	D	.	.	.	.	0.274431252636	0.27063	0.2819362476569618	0.28106	0.303687909932	0.32695	0.718763172626	0.69866	T	0.003841	0.03252	T	-0.212178	0.19072	T	-0.542556	0.18046	T	.	.	.	0.487251	0.14908	T	0.023860931	0.01163	0.024530172	0.00474	0.023860931	0.01163	0.024530172	0.00474	-4.622	0.32447	T	.	.	0.072	0.04159	B	.;.	.;.	0.892256	0.12656	9.182	0.9565263621958362	0.27468	0.04939	0.10698	N	AEFDGBI	0.071495	0.14234	N	.	.	.	.	.	.	0.00386301190670488	0.10312	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	4.08	1.57	0.22490	0.316000	0.19217	0.651000	0.20416	0.586000	0.30580	0.014000	0.18986	0.066000	0.22130	0.009000	0.08673	0.1891:0.2209:0.59:0.0	4.026	0.09174	963	0.08280	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2185.33	34	chr7	1745417	.	G	A	2185.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.22;DP=794;ExcessHet=0;FS=2.124;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.39;ReadPosRankSum=-0.476;SOR=0.914	GT:AD:DP:GQ:PL	0/1:64,78:142:99:2199,0,1573	18	0	1	0
chr7	5313185	5313187	CTA	-	exonic	TNRC18	.	nonframeshift deletion	TNRC18:NM_001080495:exon27:c.7704_7706del:p.S2577del	.	330	1123	67	0	2	69	0.0289667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0142	0.0010	0.0032	0	0	0.0071	0.0064	0.0226	3.84e-05	1	26028	rs771326389	0.0008	0.0019	0.0004	0.0012	0.0011	0.0008	0.0007	0.0008	0.0008	9.554e-05	0.0004	0.0002	2.803e-05	0.0003	0.0011	0.0009	0.0007	0.0009	1.319e-05	0.0004	1.29e-05	1.351e-05	0.0002	2.19e-06	8.2e-07	.	.	0	0	6.566e-05	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	653.4	35	chr7	5313184	.	GCTA	G	653.4	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-1.764;DP=879;ExcessHet=0.7564;FS=0;InbreedingCoeff=-0.1179;MLEAC=4;MLEAF=0.105;MQ=58.79;MQRankSum=-7.241;QD=2.43;ReadPosRankSum=2.53;SOR=0.675	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:41,8:49:99:0|1:5313184_GCTA_G:213,0,1671:5313184	15	0	4	0
chr7	5313191	5313199	CTGCCACTA	-	exonic	TNRC18	.	nonframeshift deletion	TNRC18:NM_001080495:exon27:c.7692_7700del:p.G2566_S2568del	.	329	1130	62	0	1	63	0.0267011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0124	0.0010	0.0031	0	0	0.0063	0.0065	0.0200	3.84e-05	1	26028	rs770288182	0.0007	0.0015	0.0004	0.0011	0.0008	0.0007	0.0007	0.0008	0.0008	9.519e-05	0.0003	0.0002	2.799e-05	0.0002	0.0002	0.0008	0.0007	0.0003	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	618.39	35	chr7	5313190	.	GCTGCCACTA	G	618.39	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-1.811;DP=885;ExcessHet=0.7564;FS=0;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=58.81;MQRankSum=-8.028;QD=2.21;ReadPosRankSum=2.35;SOR=0.704	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:45,8:53:99:0|1:5313184_GCTA_G:200,0,1823:5313184	15	0	4	0
chr7	16376117	16376117	T	C	exonic	CRPPA	.	nonsynonymous SNV	CRPPA:NM_001101426:exon3:c.A659G:p.D220G,CRPPA:NM_001368197:exon3:c.A659G:p.D220G	.	1	1520	1	0	0	1	0.000328839	.	.	.	1672683	Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2U|Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A,_7	MONDO:MONDO:0014474,MedGen:C5190987,OMIM:616052,Orphanet:352479|MONDO:MONDO:0013835,MedGen:C3553330,OMIM:614643,Orphanet:899	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.713	0.105602096853	.	.	1.911e-05	0	0	0	0	3.493e-05	0	0	6.5e-06	1	154602	rs769223335	2.755e-06	2.736e-06	4.105e-06	1.386e-06	0.0002	6.5e-07	4.4e-07	3e-07	1.1e-07	0	0	0	0	0	0.0002	1.806e-06	1.664e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.49613	D	0.021	0.58089	D	0.987	0.61912	D	0.872	0.61918	P	0.000256	0.46924	U	0.134219	0.999973	0.81001	D	1.765	0.45800	L	-2.06	0.85875	D	-4.17	0.75456	D	0.673	0.68082	0.198	0.85880	D	0.573	0.84559	D	10	0.783224	0.78029	D	0.105602	0.78080	D	0.713	0.89786	0.632	0.76810	0.719366664385	0.71689	0.7698170074644239	0.76930	0.245858011907	0.27107	0.558140695095	0.47005	T	0.570025	0.85747	D	0.104803	0.64806	D	-0.0872339	0.64370	T	0.991088271141052	0.81338	D	0.80302	0.45008	T	0.7297932	0.79711	0.42601147	0.66392	0.7297932	0.79713	0.42601147	0.66392	-6.506	0.50333	T	0.396397494475836	0.48888	0.133	0.28636	B	.	.	4.704964	0.75520	26.3	0.99853291674221578	0.93279	0.96968	0.71932	D	AEFI	0.869863	0.79058	D	0.55612895679614	0.70455	5.504166	0.603406204131236	0.75186	6.26638	0.995866197382021	0.34373	0.638212	0.43195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.668105	0.65232	0	.	.	5.38	5.38	0.77279	7.206000	0.77400	4.210000	0.42525	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	15.691	0.77208	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1054.33	35	chr7	16376117	.	T	C	1054.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.782;DP=702;ExcessHet=0;FS=1.971;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.25;ReadPosRankSum=-0.371;SOR=0.439	GT:AD:DP:GQ:PL	0/1:32,42:74:99:1068,0,795	18	0	1	0
chr7	23754334	23754334	C	T	exonic	STK31	.	nonsynonymous SNV	STK31:NM_001260504:exon10:c.C1084T:p.R362C,STK31:NM_001260505:exon10:c.C1153T:p.R385C,STK31:NM_031414:exon10:c.C1153T:p.R385C,STK31:NM_032944:exon10:c.C1084T:p.R362C	.	434	1071	17	0	0	17	0.00787402	.	.	.	2828350	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.093	.	0.0061	0.00499201	0.0068	0.0079	0.0041	0	0.0029	0.0085	0.0055	0.0066	0.0064165	992	154602	rs35995607	0.0053	0.0053	0.0051	0.0055	0.0182	0.0052	0.0052	0.0154	0.0144	0.0071	0.0045	0.0058	0	0.0024	0.0182	0.0054	0.0063	0.0062	0.0058	0.0058	0.0062	0.0053	0.0066	0.0055	0.0053	0.0060	0.0057	0.0066	0	0.0054	0.0069	0	0.0012	0.0476	0.0063	0.0052	0.0056	0.013	0.53900	D	0.015	0.62352	D	0.999	0.77913	D	0.642	0.52168	P	0.021224	0.26875	N	0.389451	0.929918	0.36941	D	2.595	0.75868	M	2.5	0.14408	T	-1.92	0.45042	N	0.343	0.38438	-1.1110	0.02985	T	0.036	0.15422	T	10	0.009837657	0.00221	T	.	.	.	0.093	0.26882	.	.	0.547935346631	0.54449	0.19538228019852213	0.19455	0.0756077643625	0.08487	0.288501888514	0.08704	T	0.002468	0.01855	T	-0.519283	0.00444	T	-0.512151	0.21094	T	0.0329286168080286	0.02460	T	0.813219	0.46599	T	0.09019154	0.21096	0.08130569	0.18466	0.09019154	0.21095	0.08130569	0.18466	-3.785	0.23203	T	.	.	0.081	0.08417	B	.;.;.	.;.;.	2.573741	0.33359	19.32	0.99892551323552004	0.96589	0.72330	0.35407	D	AEFI	0.321147	0.42403	N	0.203783876974777	0.51383	3.319915	0.148514036724127	0.47064	2.942268	3.88461111309461E-5	0.03775	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.75	3.95	0.44952	1.504000	0.35333	0.349000	0.17458	-0.238000	0.07553	1.000000	0.71638	0.989000	0.31174	0.007000	0.07825	0.0:0.8376:0.0:0.1624	9.696	0.39321	633	0.64743	.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.019637	0.040404	0.025815	0.020468	0.000000	0.025862	0.006098	0.007576	0.02632	1656.33	34	chr7	23754334	.	C	T	1656.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.1;DP=746;ExcessHet=0;FS=1.532;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.66;ReadPosRankSum=-2.777;SOR=0.882	GT:AD:DP:GQ:PL	0/1:47,66:113:99:1670,0,1001	18	0	1	0
chr7	47829596	47829596	G	C	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon44:c.C6564G:p.C2188W	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.00311672116924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.788e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.21467	T	0.184	0.29056	T	0.995	0.67487	D	0.547	0.49095	P	0.460342	0.12399	N	0.747174	0.999995	0.08975	N	1.67	0.42885	L	2.15	0.19311	T	-2.36	0.52128	N	0.296	0.33469	-1.0591	0.11981	T	0.048	0.20672	T	10	0.36171162	0.52784	T	0.003117	0.06786	T	0.080	0.23350	0.552	0.66856	0.273070737957	0.26916	0.2536045200721503	0.25274	0.410098164805	0.41806	0.397005200386	0.24651	T	0.34704	0.71522	T	-0.171564	0.25000	T	-0.484216	0.23999	T	0.452246865480397	0.30879	T	0.463454	0.13490	T	0.08204342	0.18882	0.115264766	0.27824	0.08204342	0.18881	0.115264766	0.27823	-7.376	0.56735	T	0.21312292306990016	0.28611	0.462	0.62816	A	.	.	2.025831	0.25746	16.87	0.98535746284117109	0.42657	0.03107	0.08041	N	AEFDBI	0.085021	0.17234	N	-0.32621816442702	0.28156	1.55065	-0.474339133563733	0.22864	1.243968	0.99995617926297	0.48110	0.516011	0.20929	0	0.59043	0.45803	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	4.21	1.54	0.22290	0.128000	0.15636	1.147000	0.24451	0.676000	0.76740	0.000000	0.06391	0.003000	0.18671	0.870000	0.41412	0.3084:0.0:0.6916:0.0	6.370	0.20682	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3947	4446.21	147	chr7	47829596	.	G	C	4446.21	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-0.867;DP=2277;ExcessHet=25.4433;FS=276.126;InbreedingCoeff=-0.7273;MLEAC=15;MLEAF=0.395;MQ=60;MQRankSum=0;QD=2.54;ReadPosRankSum=0.158;SOR=13.082	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:56,32:88:99:.:.:214,0,851:.	4	0	15	0
chr7	48103309	48103309	A	G	exonic	UPP1	.	nonsynonymous SNV	UPP1:NM_003364:exon6:c.A334G:p.I112V,UPP1:NM_001287426:exon7:c.A334G:p.I112V,UPP1:NM_001362774:exon7:c.A334G:p.I112V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.0162703173878	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.068e-05	0.0005	4.533e-05	3.607e-05	6.545e-05	3.187e-05	2.855e-05	3.432e-05	3.064e-05	6.545e-05	0	0	0	0	0	4.503e-05	0.0001	1.194e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.561	0.06669	T	0.844	0.03652	T	0.005	0.12996	B	0.013	0.16460	B	0.006375	0.32080	N	0.369553	0.659061	0.48481	D	0.65	0.16133	N	-2.14	0.86415	D	-0.25	0.11008	N	0.335	0.37613	-0.8153	0.54226	T	0.370	0.72932	T	10	0.17066589	0.31743	T	0.01627	0.37444	T	0.137	0.36984	0.393	0.41770	0.494366844524	0.49069	0.6359250264121555	0.63526	0.119767800777	0.13491	0.439313769341	0.30483	T	0.150536	0.55493	T	-0.0746563	0.40579	T	-0.345015	0.39777	T	0.0481831632055793	0.05176	T	0.90391	0.67021	D	0.036912184	0.04632	0.047135282	0.06722	0.036912184	0.04631	0.047135282	0.06722	-7.212	0.55568	T	.	.	0.115	0.22933	B	.;.;.;.	.;.;.;.	1.228969	0.16235	12.41	0.69032023839716439	0.08843	0.30303	0.24048	N	AEFDGBCI	0.037360	0.05126	N	-1.18467389851375	0.05232	0.2380039	-1.17438792066289	0.06340	0.3048925	0.99999892264264	0.74766	0.706548	0.73137	0	0.633656	0.55848	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.43	-4.68	0.03070	1.426000	0.34478	0.250000	0.16416	-0.576000	0.04747	0.702000	0.28645	0.000000	0.08366	0.986000	0.61781	0.426:0.0:0.574:0.0	14.599	0.68020	804	0.43891	Nucleoside phosphorylase domain|Nucleoside phosphorylase, conserved site;Nucleoside phosphorylase domain|Nucleoside phosphorylase, conserved site;Nucleoside phosphorylase domain|Nucleoside phosphorylase, conserved site;Nucleoside phosphorylase domain|Nucleoside phosphorylase, conserved site	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	1133.83	136	chr7	48103309	.	A	G	1133.83	.	AC=12;AF=0.333;AN=36;BaseQRankSum=-1.526;DP=1709;ExcessHet=11.1788;FS=109.594;InbreedingCoeff=-0.4559;MLEAC=12;MLEAF=0.333;MQ=60;MQRankSum=0;QD=1.01;ReadPosRankSum=0.783;SOR=10.978	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,13:90:54:0|1:48103308_C_G:54,0,2725:48103308	6	0	12	1
chr7	75287098	75287098	C	T	exonic	SPDYE13	.	stopgain	SPDYE13:NM_001382563:exon6:c.C775T:p.R259X	.	1401	120	0	1	0	2	0.00826446	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1479391849	0.0033	0.0010	0.0035	0.0030	0.3217	0.0030	0.0029	0.2939	0.2830	0	0.0096	0	0.3217	0	0	0.0002	0.0026	0.0009	0.0011	0.0048	0.0004	0.0018	0.2857	0.0004	0.0003	0.0976	0.0588	0	0	0	0	0.2857	0	0	0.0003	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	181.83	.	chr7	75287098	.	C	T	181.83	.	AC=2;AF=0.167;AN=12;DP=86;ExcessHet=0;FS=0;MLEAC=4;MLEAF=0.333;MQ=30.62;QD=25.98;SOR=2.584	GT:AD:DP:GQ:PL	1/1:0,7:7:21:190,21,0	5	1	0	13
chr7	93996297	93996297	C	G	exonic	BET1	.	nonsynonymous SNV	BET1:NM_001317739:exon3:c.G169C:p.V57L,BET1:NM_005868:exon3:c.G169C:p.V57L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.0280556482367	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1226283124	1.121e-05	1.505e-05	8.372e-06	1.407e-05	1.465e-05	6.64e-06	5.37e-06	8.67e-06	7.02e-06	0	0	0	0	0	0	1.465e-05	0	0	6.595e-06	6.574e-06	1.289e-05	0	1.474e-05	0	0	.	.	0	0	0	0	0	0	0	1.474e-05	0	0	0.068	0.91255	T	0.076	0.92824	T	0.254	0.31272	B	0.323	0.41825	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.12	0.58754	M	.	.	.	-2.32	0.54382	N	0.596	0.67391	-0.5390	0.67201	T	0.336	0.70273	T	9	0.39718962	0.55310	T	0.028056	0.50789	D	0.197	0.47942	0.642	0.77903	0.345175991111	0.34120	0.4947836147715056	0.49399	0.203680317947	0.22786	0.664033174515	0.61986	T	0.21914	0.66025	T	0.345049	0.86175	D	0.257863	0.85992	D	0.758107244968414	0.43743	D	0.952005	0.88094	D	0.4227829	0.62276	0.33796772	0.59580	0.4227829	0.62277	0.33796772	0.59579	-6.28	0.48563	T	.	.	0.866	0.84405	P	.;.;.	.;.;.	4.146416	0.62163	24.4	0.99711438997443591	0.81353	0.97968	0.78509	D	AEFBI	0.677347	0.64208	D	0.25259867354802	0.53766	3.544266	0.340834713044124	0.57958	3.963703	0.999996830958607	0.74766	0.732398	0.92422	0	0.633656	0.55848	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	4.74	4.74	0.59717	4.689000	0.61410	4.459000	0.43452	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	17.024	0.86315	635	0.64580	Target SNARE coiled-coil homology domain|Target SNARE coiled-coil homology domain|BET1, SNARE domain;.;Target SNARE coiled-coil homology domain|BET1, SNARE domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1316	140.19	80	chr7	93996297	.	C	G	140.19	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-3.925;DP=1871;ExcessHet=1.3;FS=322.429;InbreedingCoeff=-0.1734;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=0.26;ReadPosRankSum=0.561;SOR=12.381	GT:AD:DP:GQ:PL	0/1:75,30:107:39:39,0,1587	14	0	5	0
chr7	95274096	95274096	G	A	exonic	PPP1R9A	.	nonsynonymous SNV	PPP1R9A:NM_001166161:exon14:c.G3104A:p.R1035Q,PPP1R9A:NM_001166162:exon14:c.G3158A:p.R1053Q,PPP1R9A:NM_001166160:exon16:c.G3224A:p.R1075Q	.	429	1088	5	0	0	5	0.00229253	.	.	.	2208754	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.031	0.0120852813618	0.0003	0.000199681	0.0001	0.0004	0	0.0003	0	9.609e-05	0	9.946e-05	8.41e-05	13	154602	rs370590319	7.417e-05	7.73e-05	7.51e-05	7.323e-05	0.0002	6.254e-05	5.83e-05	5.906e-05	5.333e-05	0.0002	4.686e-05	0	2.56e-05	0.0001	0.0002	7.084e-05	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	0.0004	9.735e-05	8.25e-05	9.536e-05	6.942e-05	0.0002	0	0.0001	0	0.0004	9.422e-05	0	0.0001	0.0005	0.0002	0.0	0.91255	D	0.063	0.51421	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	1.8	0.25344	T	-1.75	0.42957	N	0.342	0.38335	-1.0780	0.07741	T	0.073	0.29515	T	9	0.08422974	0.14094	T	0.012085	0.30328	T	0.031	0.07369	.	.	0.44711355012	0.44333	0.30597843571679734	0.30510	0.197282521913	0.22105	0.363617181778	0.19911	T	.	.	.	-0.407343	0.02071	T	-0.530747	0.19212	T	0.336640030145645	0.26490	T	0.938306	0.79675	D	.	.	.	.	.	.	.	.	-6.434	0.51471	T	.	.	0.079	0.16010	B	.;.;.;.	.;.;.;.	3.911742	0.57055	23.8	0.99947758910056783	0.99923	0.91652	0.53976	D	AEFBI	0.322403	0.42490	N	0.0114955654821751	0.42378	2.552197	0.10462014464701	0.44784	2.753552	0.998020112087586	0.36327	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	4.59	3.71	0.41733	2.416000	0.44298	3.359000	0.37844	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0807:0.0:0.9193:0.0	12.204	0.53653	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	.	.	.	.	.	.	.	.	0.02632	1040.33	33	chr7	95274096	.	G	A	1040.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.52;DP=708;ExcessHet=0;FS=1.637;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.62;ReadPosRankSum=0.335;SOR=0.539	GT:AD:DP:GQ:PL	0/1:57,41:98:99:1054,0,1371	18	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	0.02632	989.33	34	chr7	98617646	.	C	T	989.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.508;DP=680;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.06;ReadPosRankSum=-0.422;SOR=0.617	GT:AD:DP:GQ:PL	0/1:23,35:58:99:1003,0,576	18	0	1	0
chr7	99425250	99425250	C	T	exonic	ATP5MF-PTCD1;PTCD1	.	nonsynonymous SNV	PTCD1:NM_015545:exon6:c.G1282A:p.A428T,ATP5MF-PTCD1:NM_001198879:exon7:c.G1429A:p.A477T	.	419	1069	34	0	0	34	0.0156538	.	.	.	2825912	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.019	.	0.0012	0.00219649	0.0022	0.0005	0.0008	0	0.0002	0.0017	0.0044	0.0083	0.0020504	317	154602	rs147045279	0.0017	0.0017	0.0014	0.0019	0.0141	0.0016	0.0016	0.0116	0.0107	0.0005	0.0011	0.0015	0	5.628e-05	0.0141	0.0012	0.0022	0.0087	0.0014	0.0014	0.0013	0.0015	0.0075	0.0013	0.0012	0.0055	0.0049	0.0004	0	0.0018	0.0017	0	9.416e-05	0.0170	0.0017	0.0033	0.0075	0.628	0.05262	T	0.581	0.08476	T	0.036	0.23119	B	0.005	0.19346	B	0.323285	0.14234	N	0.719311	1	0.08975	N	0.345	0.11182	N	-0.12	0.64630	T	0.44	0.03243	N	0.189	0.21056	-1.0264	0.21625	T	0.105	0.38464	T	10	0.0060635805	0.00136	T	.	.	.	0.019	0.03383	.	.	0.253205268125	0.24938	0.2198370897639818	0.24760	0.0920449276398	0.10393	0.221883535385	0.01422	T	0.010152	0.09188	T	-0.504016	0.00543	T	-0.490363	0.23352	T	0.000743209232149787	0.00007	T	0.238576	0.03390	T	0.021128131	0.00700	0.034246337	0.02459	0.021128131	0.00700	0.034246337	0.02459	-4.056	0.24639	T	.	.	0.066	0.02927	B	.;.	.;.	0.545576	0.09141	5.925	0.65804664471432339	0.07877	0.01854	0.05730	N	AEFBI	0.028975	0.02651	N	-1.14432020220704	0.05874	0.2689332	-1.10255730857523	0.07651	0.3730167	1.45210377330431E-4	0.05573	0.719381	0.83141	0	0.702456	0.74545	0	0.723133	0.82415	0	0.635551	0.53088	0	.	.	5.66	2.75	0.31439	0.236000	0.17745	1.932000	0.29777	-0.107000	0.15377	0.002000	0.15269	0.962000	0.29361	0.034000	0.13613	0.3204:0.1307:0.5489:0.0	6.653	0.22162	400	0.82730	.;.	.	.	.	.	.	Likely benign	0	0	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	0.005051	0.006793	0.005848	0.000000	0.008621	0.006098	0.007576	0.05263	3055.83	37	chr7	99425250	.	C	T	3055.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.51;DP=824;ExcessHet=0.119;FS=1.621;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.64;ReadPosRankSum=0.911;SOR=0.771	GT:AD:DP:GQ:PL	0/1:52,64:116:99:1826,0,1189	17	0	2	0
chr7	99676187	99676187	-	C	exonic	CYP3A5	.	frameshift insertion	CYP3A5:NM_000777:exon2:c.92dupG:p.L32Tfs*3,CYP3A5:NM_001190484:exon2:c.92dupG:p.L32Tfs*3,CYP3A5:NM_001291830:exon3:c.62dupG:p.L22Tfs*3	.	424	1076	22	0	0	22	0.0101196	.	.	.	2825915	CYP3A5-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0066	0.00339457	0.0075	0.0014	0.0034	0	0.0045	0.0110	0.0022	0.0054	0.0010758	28	26028	rs200579169	0.0081	0.0081	0.0081	0.0080	0.0091	0.0079	0.0079	0.0090	0.0089	0.0012	0.0047	0.0071	2.52e-05	0.0042	0.0069	0.0091	0.0074	0.0059	0.0059	0.0059	0.0059	0.0058	0.0094	0.0056	0.0054	0.0088	0.0085	0.0016	0	0.0063	0.0061	0	0.0026	0.0170	0.0094	0.0071	0.0054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002520	0.000000	0.001359	0.005848	0.000000	0.000000	0.006135	0.003788	0.02632	3116.29	36	chr7	99676187	.	T	TC	3116.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.257;DP=790;ExcessHet=0;FS=2.763;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.24;ReadPosRankSum=-0.925;SOR=0.916	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:81,81:162:99:0|1:99676187_T_TC:3130,0,3147:99676187	18	0	1	0
chr7	99676192	99676192	G	A	exonic	CYP3A5	.	nonsynonymous SNV	CYP3A5:NM_000777:exon2:c.C88T:p.H30Y,CYP3A5:NM_001190484:exon2:c.C88T:p.H30Y,CYP3A5:NM_001291830:exon3:c.C58T:p.H20Y	.	423	1077	22	0	0	22	0.0101103	.	.	.	2825916	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.071	.	0.0068	0.00339457	0.0075	0.0014	0.0034	0	0.0045	0.0110	0.0022	0.0054	0.0072121	1115	154602	rs28383468	0.0081	0.0081	0.0082	0.0080	0.0091	0.0079	0.0079	0.0090	0.0089	0.0012	0.0047	0.0071	2.52e-05	0.0042	0.0069	0.0091	0.0074	0.0060	0.0059	0.0059	0.0060	0.0058	0.0094	0.0056	0.0055	0.0088	0.0086	0.0016	0	0.0063	0.0060	0	0.0026	0.0170	0.0094	0.0071	0.0054	0.549	0.09486	T	1.0	0.16570	T	0.004	0.12183	B	0.012	0.16012	B	0.003281	0.35154	N	0.279306	1	0.08975	N	1.205	0.30389	L	3.04	0.08810	T	-1.73	0.68532	N	0.163	0.17553	-0.9473	0.41431	T	0.011	0.04274	T	10	0.004989326	0.00107	T	.	.	.	0.071	0.20720	.	.	0.163833314356	0.15978	0.8439105298094285	0.84352	0.245701231888	0.27094	.	.	.	0.004418	0.03828	T	-0.612135	0.00123	T	-0.644104	0.09373	T	0.00456155968340414	0.00049	T	0.811819	0.46320	T	0.048797607	0.08563	0.07286222	0.15767	0.048797607	0.08562	0.07286222	0.15767	-6.595	0.51015	T	.	.	0.136	0.29697	B	.;.	.;.	1.234343	0.16293	12.45	0.30315832732645831	0.01652	0.03138	0.08093	N	AEFBI	0.225843	0.34988	N	-1.31597404548288	0.03492	0.1560738	-1.31013412846963	0.04298	0.2024405	0.839449184831597	0.24839	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.78	1.87	0.24559	1.596000	0.36329	-0.031000	0.12795	-0.129000	0.13216	0.064000	0.21895	0.000000	0.08366	0.367000	0.26044	0.2274:0.0:0.7726:0.0	8.276	0.31035	76	0.96806	.;.	MOSPD3|TRIM4|GPC2|CYP3A4|STAG3	Adrenal_Gland|Colon_Transverse|Muscle_Skeletal|Skin_Not_Sun_Exposed_Suprapubic|Testis	.	.	rs28383468	Likely benign	0	0	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	0.002520	0.000000	0.001359	0.005848	0.000000	0.000000	0.006135	0.003788	0.02632	3097.33	36	chr7	99676192	.	G	A	3097.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.04;DP=790;ExcessHet=0;FS=2.722;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.77;ReadPosRankSum=-0.536;SOR=0.839	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:84,81:165:99:0|1:99676187_T_TC:3111,0,3212:99676187	18	0	1	0
chr7	99715815	99715815	C	T	exonic	CYP3A7;CYP3A7-CYP3A51P	.	nonsynonymous SNV	CYP3A7:NM_000765:exon7:c.G613A:p.E205K,CYP3A7-CYP3A51P:NM_001256497:exon7:c.G613A:p.E205K	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.0174488889623	.	0.000199681	0.0002	0	0	0	0	0	0	0.0016	0.0001746	27	154602	rs546078547	0.0001	0.0001	5.582e-05	0.0002	0.0017	9.2e-05	8.666e-05	0.0015	0.0014	2.989e-05	0	0	0	0	0.0002	8.994e-07	3.313e-05	0.0017	3.941e-05	4.593e-05	1.285e-05	6.716e-05	0.0010	1.715e-05	1.129e-05	0.0004	0.0003	0	0	0	0	0	0	0	1.471e-05	0	0.0010	0.625	0.05229	T	0.873	0.03898	T	0.0	0.02946	B	0.002	0.06944	B	0.139832	0.18330	N	0.607393	1	0.08975	N	0.205	0.09354	N	-0.23	0.66652	T	-0.62	0.18248	N	0.204	0.22614	-1.0107	0.26698	T	0.085	0.33071	T	10	0.008140326	0.00185	T	0.017449	0.39153	T	0.053	0.14996	0.462	0.53079	0.391156786388	0.38726	0.552410353801837	0.55167	0.14433657637	0.16299	0.251646697521	0.03943	T	0.089586	0.38404	T	-0.564966	0.00237	T	-0.591575	0.13530	T	0.00609747600469235	0.00067	T	0.867113	0.56785	D	0.04523192	0.07368	0.08623859	0.19965	0.04523192	0.07368	0.08623859	0.19965	-8.335	0.63331	D	.	.	0.130	0.28578	B	.;.;.	.;.;.	0.453715	0.08239	4.977	0.68865164819364721	0.08791	0.01294	0.04502	N	AEFI	0.117126	0.22958	N	-1.47198821166534	0.02050	0.09010059	-1.47632035261607	0.02539	0.1169761	0.00729051426291692	0.11429	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.530356	0.10902	0	.	.	4.22	-2.14	0.06725	-0.361000	0.07664	-6.717000	0.01324	-0.306000	0.06133	0.000000	0.06391	0.000000	0.08366	0.023000	0.12082	0.0:0.2175:0.1907:0.5918	5.793	0.17637	87	0.96348	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	3460.33	33	chr7	99715815	.	C	T	3460.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.71;DP=868;ExcessHet=0;FS=2.201;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.71;MQRankSum=1.27;QD=14.6;ReadPosRankSum=-1.29;SOR=0.849	GT:AD:DP:GQ:PL	0/1:117,120:237:99:3474,0,3247	18	0	1	0
chr7	100173918	100173918	A	G	exonic	GPC2	.	nonsynonymous SNV	GPC2:NM_152742:exon5:c.T809C:p.M270T	.	425	1087	10	0	0	10	0.00457875	.	.	.	2675513	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.028	0.0182527814312	0.0002	.	0.0003	0	0.0007	0	0.0002	0.0003	0.0011	0	0.000207	32	154602	rs199810091	0.0001	0.0001	0.0001	0.0001	0.0019	0.0001	0.0001	0.0011	0.0008	0	0.0003	0.0010	0	1.876e-05	0.0019	0.0001	0.0003	0.0001	0.0002	0.0002	0.0001	0.0002	0.0003	0.0001	0.0001	0.0001	0.0001	0	0	0.0003	0.0012	0	9.416e-05	0.0102	0.0002	0	0	0.025	0.47320	D	0.23	0.25135	T	0.037	0.20876	B	0.03	0.21741	B	0.806378	0.06800	N	1.094290	1	0.08975	N	1.7	0.43825	L	0.81	0.48460	T	-0.93	0.24898	N	0.278	0.31478	-0.9836	0.34164	T	0.082	0.32178	T	10	0.041591376	0.02828	T	0.018253	0.40250	T	0.028	0.06331	.	.	0.136095386433	0.13204	0.25809384976511984	0.25723	0.385980496119	0.39890	0.395523667336	0.24445	T	0.129206	0.45735	T	-0.404977	0.02147	T	-0.487434	0.23659	T	0.010684724201195	0.00150	T	0.409559	0.10569	T	0.12205149	0.28689	0.112317055	0.27100	0.12205149	0.28689	0.112317055	0.27099	-1.892	0.02798	T	.	.	0.091	0.13032	B	.	.	1.914630	0.24320	16.35	0.63200447522113445	0.07161	0.04331	0.09890	N	AEFDBCI	0.035073	0.04452	N	-1.07710849372717	0.07067	0.3271935	-1.09424962846216	0.07812	0.3815308	0.506737191593842	0.20987	0.706298	0.61202	0	0.610034	0.51514	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.92	-1.52	0.08181	0.717000	0.25523	2.542000	0.33220	-0.121000	0.13915	0.028000	0.20300	0.568000	0.25556	0.638000	0.32368	0.14:0.3378:0.3966:0.1257	3.249	0.06406	283	0.88803	Glypican, 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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1599.33	35	chr7	100173918	.	A	G	1599.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.35;DP=731;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.81;ReadPosRankSum=0.657;SOR=0.71	GT:AD:DP:GQ:PL	0/1:44,64:108:99:1613,0,1152	18	0	1	0
chr7	100175805	100175805	G	C	exonic	GPC2	.	nonsynonymous SNV	GPC2:NM_152742:exon3:c.C415G:p.L139V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.0084618148058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	5.746e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.19293	T	0.264	0.22761	T	0.002	0.09854	B	0.003	0.08700	B	0.011788	0.29400	N	0.319847	0.999984	0.18198	N	1.1	0.28011	L	0.82	0.48142	T	0.09	0.05917	N	0.115	0.10340	-1.0389	0.17648	T	0.045	0.19194	T	10	0.06973243	0.10047	T	0.008462	0.22382	T	0.015	0.02232	0.409	0.44395	0.260249123532	0.25628	0.12418845572528417	0.12344	0.308157786748	0.33120	0.309577137232	0.11843	T	0.086908	0.37827	T	-0.283254	0.10325	T	-0.644651	0.09334	T	0.086081848684672	0.10746	T	0.442656	0.12286	T	0.043123998	0.06666	0.05641909	0.10077	0.043123998	0.06665	0.05641909	0.10077	-4.159	0.26155	T	.	.	0.065	0.01960	B	.	.	1.692672	0.21567	15.25	0.93331368040686369	0.23058	0.23428	0.22073	N	AEFBI	0.121001	0.23544	N	-0.863199556233683	0.11727	0.5675084	-0.716315475991125	0.16555	0.876308	0.999171803000595	0.38651	0.52065	0.21626	1	0.588066	0.40923	0	0.719019	0.79029	0	0.604944	0.38103	0	.	.	5.06	2.18	0.26813	0.676000	0.24927	3.139000	0.36475	-0.186000	0.09761	0.000000	0.06391	1.000000	0.68203	0.968000	0.53726	0.0949:0.3504:0.5547:0.0	7.051	0.24254	285	0.88719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4737	18116.3	121	chr7	100175805	.	G	C	18116.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.889;DP=2073;ExcessHet=38.2876;FS=367.033;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=9.32;ReadPosRankSum=0.937;SOR=13.397	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:63,54:117:99:0|1:100175805_G_C:1431,0,2029:100175805	1	0	18	0
chr7	100399831	100399831	C	T	exonic	PILRA	.	nonsynonymous SNV	PILRA:NM_178272:exon6:c.C617T:p.S206L,PILRA:NM_013439:exon7:c.C836T:p.S279L	.	431	1049	39	3	0	45	0.0209986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	.	0.0118	0.00559105	0.0113	0.0020	0.0019	0.0001	0.0088	0.0147	0.0067	0.0173	0.0106661	1649	154602	rs34266222	0.0099	0.0099	0.0096	0.0101	0.0176	0.0097	0.0097	0.0169	0.0166	0.0015	0.0022	0.0518	0	0.0092	0.0080	0.0092	0.0113	0.0176	0.0083	0.0083	0.0083	0.0082	0.0160	0.0079	0.0077	0.0131	0.0120	0.0020	0.0022	0.0032	0.0547	0	0.0084	0.0136	0.0109	0.0085	0.0160	0.113	0.91255	T	0.243	0.34837	T	0.053	0.29046	B	0.019	0.30579	B	0.005733	0.32555	N	0.000000	1	0.08975	N	1.355	0.33814	L	0.65	0.52642	T	-1.96	0.45404	N	0.161	0.19995	-1.0669	0.10108	T	0.042	0.17869	T	9	0.0024999976	0.00038	T	.	.	.	0.051	0.14325	.	.	.	.	0.11323491982903096	0.11251	0.176822401337	0.19894	0.318505644798	0.13194	T	0.02106	0.16467	T	-0.536475	0.00352	T	-0.529105	0.19376	T	0.00560833987177457	0.00061	T	0.605339	0.22755	T	0.033658035	0.03627	0.044622328	0.05823	0.033658035	0.03627	0.044622328	0.05823	-3.657	0.18685	T	.	.	0.086	0.10787	B	.;.	.;.	1.285668	0.16857	12.81	0.89942232312080983	0.19239	0.05843	0.11786	N	AEFDBI	0.026036	0.01885	N	-1.08455630630354	0.06927	0.3203013	-1.08829502313267	0.07930	0.3877462	0.96931527846712	0.29119	0.706548	0.73137	0	0.724815	0.89359	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	5.24	2.46	0.29032	0.917000	0.28286	1.313000	0.25551	-0.997000	0.01825	0.035000	0.20724	0.179000	0.23406	0.001000	0.02609	0.1586:0.6712:0.0:0.1703	5.521	0.16222	450	0.79359	.;.	.	.	.	.	rs34266222	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008808	0.000000	0.001359	0.003497	0.000000	0.008621	0.030488	0.015152	0.02632	1405.33	35	chr7	100399831	.	C	T	1405.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.992;DP=752;ExcessHet=0;FS=2.331;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.91;ReadPosRankSum=0.024;SOR=0.859	GT:AD:DP:GQ:PL	0/1:63,55:118:99:1419,0,1517	18	0	1	0
chr7	100416308	100416308	C	G	exonic	ZCWPW1	.	nonsynonymous SNV	ZCWPW1:NM_001258008:exon7:c.G628C:p.A210P,ZCWPW1:NM_017984:exon7:c.G628C:p.A210P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.0139127086188	.	.	1.656e-05	0	0	0.0002	0	0	0	0	1.29e-05	2	154602	rs768069661	7.53e-06	8.688e-05	6.812e-06	8.256e-06	9.899e-06	4.04e-06	2.95e-06	5.31e-06	3.88e-06	0	0	0	0	0	0	9.899e-06	0	0	6.579e-06	6.569e-06	1.286e-05	0	2.417e-05	0	0	.	.	2.417e-05	0	0	0	0	0	0	0	0	0	0.003	0.68238	D	0.017	0.64786	D	0.981	0.68779	D	0.77	0.65999	P	0.126267	0.02769	N	1.915940	1	0.08975	N	2.295	0.65404	M	0.44	0.57575	T	-1.52	0.51157	N	0.105	0.18649	-0.9651	0.38191	T	0.211	0.57134	T	9	0.07359043	0.11990	T	0.013913	0.33663	T	0.160	0.41473	0.167	0.07186	0.0846915920261	0.08053	0.2553416396724554	0.25448	0.235566991127	0.26085	0.326068282127	0.14340	T	0.032045	0.22312	T	-0.244567	0.14771	T	-0.363378	0.37660	T	0.256688277327145	0.23170	T	0.49905	0.36376	T	0.28358757	0.51390	0.2510205	0.50705	0.28358757	0.51390	0.2510205	0.50704	-4.084	0.25054	T	.	.	0.131	0.29004	B	.;.;.	.;.;.	2.654947	0.34573	19.67	0.99736852657666464	0.83192	0.04517	0.10144	N	AEFDI	0.143022	0.26562	N	-0.221500259265149	0.32253	1.816927	-0.35189881764483	0.26449	1.461059	0.00411306419695172	0.10422	0.553676	0.25195	0	0.588066	0.40923	0	0.618467	0.43123	0	0.530356	0.10902	0	.	.	5.27	2.0	0.25495	-0.453000	0.06853	-0.115000	0.11785	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.958000	0.51230	0.2112:0.5376:0.0:0.2512	3.297	0.06560	453	0.79178	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	40.39	63	chr7	100416308	.	C	G	40.39	.	AC=3;AF=0.083;AN=36;BaseQRankSum=-2.572;DP=1385;ExcessHet=0.3672;FS=206.453;InbreedingCoeff=-0.1037;MLEAC=2;MLEAF=0.056;MQ=60;MQRankSum=0;QD=0.17;ReadPosRankSum=0.813;SOR=10.876	GT:AD:DP:GQ:PL	0/1:63,30:104:34:34,0,1137	15	0	3	1
chr7	100773851	100773851	A	0	exonic	ZAN	.	.	.	.	428	140	242	44	668	998	0.540984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6579	7629.63	110	chr7	100773851	.	A	*	7629.63	.	AC=25;AF=0.658;AN=38;BaseQRankSum=-1.304;DP=2087;ExcessHet=1.1637;FS=0;InbreedingCoeff=-0.0192;MLEAC=25;MLEAF=0.658;MQ=60;MQRankSum=0;QD=3.84;ReadPosRankSum=0.752;SOR=0.671	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:63,40:103:99:0|1:100773849_CCAT_C:1479,0,2519:100773849	3	9	7	0
chr7	100787956	100787956	G	0	exonic	ZAN	.	.	.	.	0	48	9	0	169	178	0.0857143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6842	1912.83	137	chr7	100787956	.	G	*	1912.83	.	AC=26;AF=0.684;AN=38;BaseQRankSum=0.734;DP=2414;ExcessHet=2.8258;FS=4.34;InbreedingCoeff=-0.1515;MLEAC=26;MLEAF=0.684;MQ=60;MQRankSum=0;QD=0.86;ReadPosRankSum=-1.014;SOR=0.992	GT:AD:DP:GQ:PL	0/1:76,46:122:99:1705,0,3045	2	9	8	0
chr7	100953156	100953156	C	0	exonic	MUC3A	.	.	.	.	685	537	148	21	131	321	0.150316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3158	17482.0	771	chr7	100953156	.	C	*	17482.0	.	AC=12;AF=0.316;AN=38;BaseQRankSum=7.09;DP=10360;ExcessHet=48.2876;FS=8.453;InbreedingCoeff=-1;MLEAC=12;MLEAF=0.316;MQ=57.49;MQRankSum=-15.74;QD=1.71;ReadPosRankSum=0.097;SOR=1.242	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:316,86:456:99:0|1:100953098_G_C:2660,0,13010:100953098	7	0	12	0
chr7	100953158	100953158	G	0	exonic	MUC3A	.	.	.	.	651	699	39	0	133	172	0.0271399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4474	1350.84	756	chr7	100953158	.	G	*	1350.84	.	AC=17;AF=0.447;AN=38;BaseQRankSum=3.94;DP=10155;ExcessHet=48.2876;FS=12.382;InbreedingCoeff=-1;MLEAC=17;MLEAF=0.447;MQ=57.51;MQRankSum=-16.03;QD=0.14;ReadPosRankSum=0.292;SOR=1.514	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:316,79:446:99:.:.:2366,0,13031:.	2	0	17	0
chr7	100960582	100960582	T	0	exonic	MUC3A	.	.	.	.	0	9	197	0	20	217	0.916279	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	86464.0	854	chr7	100960582	.	T	*	86464.0	.	AC=5;AF=0.132;AN=38;BaseQRankSum=0.881;DP=11676;ExcessHet=48.2876;FS=0;InbreedingCoeff=-1;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=7.55;ReadPosRankSum=0.041;SOR=0.663	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:322,125:549:99:0|1:100960582_T_A:5615,0,12817:100960582	14	0	5	0
chr7	100994332	100994332	C	A	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.C3769A:p.P1257T	.	955	564	2	1	0	4	0.00353357	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	.	.	0.000998403	0.0121	0	0	0	0	0	0	0.0273	0.0001921	5	26028	rs547313482	0.0010	0.0007	0.0006	0.0015	0.0135	0.0010	0.0010	0.0126	0.0123	0.0001	0	0	0	0	0.0017	0.0001	0.0006	0.0135	0.0006	0.0004	0	0.0013	0.0254	0.0004	0.0004	0.0179	0.0154	0	0	0	0	0	0	0	3.988e-05	0	0.0254	0.268	0.16144	T	0.084	0.41239	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.975	0.24501	L	2.48	0.14783	T	-0.31	0.12099	N	0.03	0.01135	-0.9819	0.34561	T	0.018	0.07706	T	7	0.0038413107	0.00073	T	.	.	.	0.016	0.02506	0.139	0.04277	0.0401082797425	0.02173	0.003824477920115496	0.00358	.	.	0.505482077599	0.39592	T	0.002909	0.02309	T	-0.52578	0.00407	T	-0.80134	0.01869	T	0.00622041473207226	0.00069	T	0.373163	0.08852	T	0.03307861	0.03456	0.043670386	0.05483	0.03307861	0.03455	0.043670386	0.05483	-6.811	0.52641	T	.	.	0.134	0.29088	B	.;.	.;.	0.826476	0.11977	8.537	0.36194981064846504	0.02315	0.00111	0.00708	N	AEFI	0.036619	0.04908	N	-1.0677552779539	0.07244	0.3359142	-1.26294764009368	0.04941	0.2343246	1.29486472340696E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.481	-0.69	0.10741	-1.465000	0.02463	-3.050000	0.03106	-0.732000	0.03721	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.3501:0.0:0.6498	3.763	0.08136	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	.	.	.	.	.	.	.	.	0.06667	4424.73	.	chr7	100994332	.	C	A	4424.73	.	AC=2;AF=0.067;AN=30;DP=512;ExcessHet=0;FS=0;InbreedingCoeff=0.6309;MLEAC=3;MLEAF=0.1;MQ=36.98;QD=32.73;SOR=1.321	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,99:99:99:1|1:100994332_C_A:4447,298,0:100994332	14	1	0	4
chr7	100994333	100994333	C	A	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.C3770A:p.P1257H	.	952	567	2	1	0	4	0.00351494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	.	.	0.000998403	0.0121	0	0	0	0	0	0	0.0275	0.0001921	5	26028	rs565859559	0.0011	0.0007	0.0006	0.0016	0.0135	0.0010	0.0010	0.0126	0.0123	0.0001	0	0	0	0	0.0017	0.0001	0.0006	0.0135	0.0006	0.0004	0	0.0012	0.0253	0.0004	0.0004	0.0178	0.0154	0	0	0	0	0	0	0	3.981e-05	0	0.0253	0.002	0.72154	D	0.008	0.67890	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.975	0.24501	L	2.44	0.15261	T	-1.5	0.36586	N	0.078	0.05287	-0.9976	0.30590	T	0.020	0.08593	T	7	0.004235536	0.00085	T	.	.	.	0.066	0.19193	0.132	0.03662	0.149567049428	0.14543	0.0038821372414133675	0.00364	.	.	0.503758072853	0.39351	T	0.003253	0.02657	T	-0.435161	0.01381	T	-0.671824	0.07492	T	0.0368080220796572	0.03123	T	0.329867	0.06895	T	0.09555348	0.22489	0.101211056	0.24223	0.09555348	0.22489	0.101211056	0.24223	-8.455	0.64131	D	.	.	0.236	0.47016	B	.;.	.;.	1.601073	0.20470	14.76	0.46275365916339445	0.03694	0.00854	0.03405	N	AEFI	0.040384	0.06000	N	-0.832598821860392	0.12483	0.6087178	-1.00264680829362	0.09727	0.4856046	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	-0.431000	0.07034	-0.744000	0.07606	0.282000	0.18639	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.6678:0.0:0.3321	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	.	.	.	.	.	.	.	.	0.06667	4424.73	.	chr7	100994333	.	C	A	4424.73	.	AC=2;AF=0.067;AN=30;DP=514;ExcessHet=0;FS=0;InbreedingCoeff=0.6309;MLEAC=3;MLEAF=0.1;MQ=37.35;QD=30.75;SOR=1.321	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,99:99:99:1|1:100994332_C_A:4447,298,0:100994332	14	1	0	4
chr7	101004493	101004493	C	G	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.C13930G:p.P4644A	.	497	958	63	4	0	71	0.0357323	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	.	0.0046	0.00479233	0.0145	0.0024	0.0118	0	0.0123	0.0076	0.0474	0.0250	0.0032273	84	26028	rs111307353	0.0069	0.0067	0.0061	0.0076	0.0280	0.0067	0.0067	0.0270	0.0267	0.0010	0.0041	0.0033	0.0003	0.0116	0.0251	0.0056	0.0066	0.0280	0.0056	0.0058	0.0049	0.0063	0.0213	0.0053	0.0051	0.0179	0.0166	0.0011	0	0.0024	0.0038	0.0006	0.0153	0.0214	0.0067	0.0117	0.0213	0.143	0.25355	T	0.911	0.02952	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.895	0.22405	L	2.51	0.14284	T	-0.14	0.16393	N	0.015	0.02088	-0.9552	0.40060	T	0.009	0.03096	T	6	0.0037515461	0.00070	T	.	.	.	0.011	0.01250	.	.	.	.	0.0013067610022922437	0.00120	.	.	0.444512039423	0.31193	T	0.006206	0.05647	T	-0.726623	0.00025	T	-0.796248	0.01998	T	0.0023018370117503	0.00024	T	0.213379	0.02617	T	0.02942691	0.02434	0.0741683	0.16195	0.02942691	0.02434	0.0741683	0.16195	1.834	0.00060	T	.	.	0.064	0.02609	B	.;.	.;.	-0.677403	0.01374	0.078	0.1196446150949034	0.00195	0.00081	0.00551	N	AEFBI	0.023841	0.01386	N	-1.4625874373199	0.02120	0.0932634	-1.63058557593802	0.01479	0.06695312	4.06484876756422E-5	0.03775	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.131	-0.261	0.12322	-0.330000	0.07968	.	.	-1.011000	0.01765	0.000000	0.06391	.	.	0.001000	0.02609	.	.	.	818	0.41518	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.015625	0.005435	0.000000	0.000000	0.083333	0.045455	0.023810	0.048780	0.07895	9769.79	60	chr7	101004493	.	C	G	9769.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.81;DP=1864;ExcessHet=0.3672;FS=0.533;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=53.01;MQRankSum=1.68;QD=12.97;ReadPosRankSum=-0.725;SOR=0.659	GT:AD:DP:GQ:PL	0/1:125,115:240:99:2954,0,3061	16	0	3	0
chr7	101031186	101031186	G	A	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon2:c.G149A:p.R50H	.	429	1083	9	1	0	11	0.00505282	.	.	.	4013916	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.020	0.00143456865325	0.0019	0.000798722	0.0018	0.0007	0.0003	0	0.0005	0.0028	0.0044	0.0009	0.0018176	281	154602	rs144369997	0.0029	0.0029	0.0028	0.0029	0.0034	0.0028	0.0027	0.0033	0.0033	0.0006	0.0006	0.0016	0	0.0010	0.0005	0.0034	0.0028	0.0012	0.0018	0.0018	0.0019	0.0016	0.0030	0.0016	0.0015	0.0027	0.0025	0.0005	0	0.0008	0.0014	0	0.0008	0.0034	0.0030	0.0024	0.0027	0.0	0.91255	D	.	.	.	0.158	0.28271	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0	0.06538	N	4.12	0.02891	T	0.12	0.05604	N	0.067	0.03956	-0.9066	0.47262	T	0.005	0.01651	T	9	0.0067336857	0.00153	T	0.001435	0.02139	T	0.020	0.03691	.	.	0.0297737177859	0.01360	0.015364673655540102	0.01492	.	.	0.278332769871	0.07261	T	0.017712	0.14403	T	-0.653524	0.00069	T	-0.714883	0.05047	T	0.00651844638449271	0.00073	T	0.417158	0.10968	T	0.04630725	0.07727	0.05578367	0.09850	0.04630725	0.07727	0.05578367	0.09850	-4.11	0.25438	T	.	.	0.108	0.20274	B	.	.	0.520196	0.08890	5.670	0.75575770760871619	0.11128	0.00590	0.02647	N	AEFDBHCI	0.041666	0.06366	N	-1.23987810381628	0.04434	0.2001198	-1.29264525869418	0.04529	0.2138471	0.0121931257980424	0.12292	0.525926	0.21836	0	0.615948	0.52940	0	0.596394	0.31383	0	0.542086	0.14980	0	.	.	1.9	1.01	0.19044	-0.305000	0.08227	-0.002000	0.13189	-0.201000	0.08892	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.0:0.69:0.31:0.0	6.422	0.20951	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	1	0	0.001007	0.010101	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1035.33	34	chr7	101031186	.	G	A	1035.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.74;DP=720;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.15;ReadPosRankSum=0.775;SOR=0.704	GT:AD:DP:GQ:PL	0/1:61,41:102:99:1049,0,1476	18	0	1	0
chr7	101200838	101200838	G	A	exonic	MOGAT3	.	nonsynonymous SNV	MOGAT3:NM_001287147:exon1:c.C17T:p.T6I,MOGAT3:NM_178176:exon1:c.C17T:p.T6I	.	428	1088	5	1	0	7	0.0032066	.	.	.	2352661	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.016	0.00561972782358	0.0003	0.000199681	0.0002	0	0	0	0	0.0004	0.0012	6.655e-05	0.0002005	31	154602	rs141091754	0.0002	0.0002	0.0002	0.0002	0.0009	0.0002	0.0002	0.0003	0.0002	2.988e-05	2.239e-05	0	0	0	0.0009	0.0003	0.0003	2.321e-05	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0003	0.0002	2.406e-05	0	0	0	0.0002	0	0	0.0004	0.0005	0	0.076	0.61437	T	0.154	0.33780	T	0.001	0.17786	B	0.003	0.12133	B	0.000273	0.00546	U	4.684840	1	0.08975	N	0	0.06538	N	2.56	0.29085	T	-0.33	0.12661	N	0.118	0.10769	-1.0384	0.17802	T	0.043	0.18701	T	10	0.02369669	0.00628	T	0.00562	0.14530	T	0.016	0.02506	.	.	0.186928172975	0.18263	0.3548649470518873	0.35400	0.181768185233	0.20427	0.309369117022	0.11811	T	0.006579	0.06008	T	-0.502111	0.00556	T	-0.62696	0.10647	T	0.0127830405739977	0.00217	T	0.362364	0.08382	T	0.06549659	0.14004	0.057269488	0.10380	0.06549659	0.14004	0.057269488	0.10380	-4.733	0.36115	T	.	.	0.102	0.32780	B	.;.;.	.;.;.	1.015408	0.13947	10.51	0.81220998283458468	0.13579	0.24420	0.22388	N	AEFDBHCI	0.072130	0.14384	N	-1.05322224760652	0.07524	0.3498278	-1.06105756649692	0.08477	0.4170373	0.999999239229422	0.74766	0.615755	0.39536	0	0.563428	0.19063	0	0.618376	0.41669	0	0.530356	0.10902	0	.	.	3.81	1.8	0.24069	0.022000	0.13402	-0.896000	0.07009	0.659000	0.54702	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2794:0.0:0.7206:0.0	5.758	0.17453	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	0.002016	0.000000	0.000000	0.000000	0.000000	0.017241	0.003049	0.003788	0.02632	888.33	33	chr7	101200838	.	G	A	888.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.529;DP=686;ExcessHet=0;FS=2.982;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.9;ReadPosRankSum=-0.057;SOR=0.346	GT:AD:DP:GQ:PL	0/1:15,32:47:99:902,0,391	18	0	1	0
chr7	102934282	102934282	G	C	exonic	LRRC17	.	nonsynonymous SNV	LRRC17:NM_001031692:exon2:c.G369C:p.E123D,LRRC17:NM_005824:exon2:c.G369C:p.E123D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.00550950631605	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.541	0.10678	T	0.0	0.02946	B	0.002	0.06944	B	0.004721	0.33446	N	0.207615	1	0.81001	D	-0.18	0.04256	N	0.26	0.59314	T	2.97	0.00304	N	0.088	0.06587	-0.9900	0.32601	T	0.059	0.24871	T	10	0.0402624	0.02580	T	0.00551	0.14197	T	0.102	0.29158	0.593	0.72247	0.630674063255	0.62765	0.32803734693529624	0.32716	0.23164822142	0.25718	0.39575278759	0.24477	T	0.001762	0.01186	T	-0.263963	0.12439	T	-0.616941	0.11426	T	0.0953304618597031	0.11836	T	0.758424	0.38228	T	0.07261241	0.16165	0.063943654	0.12744	0.07261241	0.16165	0.063943654	0.12743	-1.533	0.03110	T	.	.	0.084	0.33156	B	.;.	.;.	1.403225	0.18178	13.59	0.79853046318071419	0.12930	0.67709	0.33531	D	AEFDBIJ	0.199371	0.32618	N	-0.6476857485773	0.17528	0.9027043	-0.402716744649766	0.24916	1.367225	0.999999761740133	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.338622	0.05889	2	0.613276	0.41899	0	.	.	5.52	3.61	0.40494	0.038000	0.13749	0.020000	0.13575	0.676000	0.76740	0.830000	0.30133	0.455000	0.24973	0.993000	0.69303	0.1452:0.1381:0.7166:0.0	7.418	0.26231	455	0.79073	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1053	635.49	33	chr7	102934282	.	G	C	635.49	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-5.875;DP=1880;ExcessHet=0.7564;FS=169.914;InbreedingCoeff=-0.1189;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=1.04;ReadPosRankSum=0.672;SOR=10.397	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:102,19:121:39:0|1:102934282_G_C:39,0,3545:102934282	15	0	4	0
chr7	102934283	102934283	G	C	exonic	LRRC17	.	nonsynonymous SNV	LRRC17:NM_001031692:exon2:c.G370C:p.A124P,LRRC17:NM_005824:exon2:c.G370C:p.A124P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.686	0.102285869568	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.642e-05	1.362e-06	1.376e-06	8.996e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.996e-07	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.013	0.63109	D	1.0	0.90584	D	0.999	0.92359	D	0.000018	0.62929	D	0.000000	1	0.81001	D	2.48	0.72069	M	0.09	0.61443	T	-4.69	0.79743	D	0.866	0.91621	-0.0790	0.80575	T	0.414	0.76122	T	10	0.83823025	0.82978	D	0.102286	0.77566	D	0.686	0.88538	0.608	0.74063	0.884098710478	0.88296	0.8411723386298476	0.84077	1.02869255285	0.75355	0.595906376839	0.52327	T	0.053493	0.29459	T	0.351657	0.86616	D	0.267354	0.86441	D	0.998028337955475	0.93033	D	0.90001	0.65919	D	0.958163	0.97095	0.93957394	0.97739	0.958163	0.97095	0.93957394	0.97740	-8.842	0.66674	D	.	.	0.973	0.90137	P	.;.	.;.	4.615823	0.73244	26.0	0.99771405677723168	0.85918	0.99139	0.91801	D	AEFDBIJ	0.974099	0.99537	D	0.77679732466033	0.84635	8.343356	0.724224124696295	0.84219	8.231214	0.999999999999933	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.338622	0.05889	2	0.613276	0.41899	0	.	.	5.52	4.65	0.57626	8.066000	0.89276	4.610000	0.44033	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0697:0.0:0.9303:0.0	14.775	0.69347	455	0.79073	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2222	1131.3	125	chr7	102934283	.	G	C	1131.3	.	AC=8;AF=0.222;AN=36;BaseQRankSum=-5.038;DP=2763;ExcessHet=4.0268;FS=178.434;InbreedingCoeff=-0.28;MLEAC=8;MLEAF=0.222;MQ=60;MQRankSum=0;QD=0.91;ReadPosRankSum=0.387;SOR=11.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:102,19:121:39:0|1:102934282_G_C:39,0,3545:102934282	10	0	8	1
chr7	105462718	105462718	C	G	exonic	PUS7	.	nonsynonymous SNV	PUS7:NM_001318163:exon14:c.G1678C:p.D560H,PUS7:NM_001318164:exon14:c.G1660C:p.D554H,PUS7:NM_019042:exon14:c.G1660C:p.D554H	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.662	0.055038486474	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1294673867	3.422e-06	3.42e-06	2.724e-06	4.127e-06	2.321e-05	1e-06	7.3e-07	3.85e-06	1.44e-06	0	0	0	0	0	0	1.799e-06	1.656e-05	2.321e-05	0	6.567e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.003	0.68238	D	0.004	0.74150	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.31	0.90591	M	0.96	0.42888	T	-4.16	0.75375	D	0.883	0.90138	-0.3220	0.74366	T	0.328	0.69623	T	10	0.9573015	0.95103	D	0.055038	0.66082	D	0.662	0.87381	0.845	0.94906	0.599885882726	0.59670	0.9338346136769011	0.93362	0.782286968558	0.65355	0.714573740959	0.69256	T	0.242698	0.61148	T	0.220821	0.75853	D	0.180048	0.81999	D	0.986958205699921	0.77550	D	0.973153	0.90356	D	0.77853566	0.82564	0.6139057	0.77531	0.77853566	0.82565	0.6139057	0.77532	-10.384	0.76178	D	0.4821887401032837	0.56065	0.933	0.85255	P	.;.	.;.	5.326632	0.89396	30	0.9959850022167609	0.74042	0.98860	0.87816	D	AEFBI	0.886152	0.81729	D	0.926691610088775	0.93004	11.76186	0.885403728122328	0.94905	13.14121	0.999999992756038	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.62	5.62	0.85714	7.497000	0.80382	7.605000	0.61698	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.651	0.91389	918	0.19598	Pseudouridine synthase, TruD, insertion domain;Pseudouridine synthase, TruD, insertion 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	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.003788	0.02632	1990.33	36	chr7	105462718	.	C	G	1990.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.37;DP=889;ExcessHet=0;FS=4.324;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.95;ReadPosRankSum=-0.849;SOR=0.997	GT:AD:DP:GQ:PL	0/1:121,79:200:99:2004,0,3193	18	0	1	0
chr7	107281356	107281356	C	T	exonic	COG5	.	nonsynonymous SNV	COG5:NM_001379516:exon7:c.G805A:p.V269M,COG5:NM_001379515:exon9:c.G949A:p.V317M,COG5:NM_001379511:exon13:c.G1357A:p.V453M,COG5:NM_001161520:exon14:c.G1519A:p.V507M,COG5:NM_001379512:exon14:c.G1519A:p.V507M,COG5:NM_001379513:exon14:c.G1519A:p.V507M,COG5:NM_001379514:exon14:c.G1519A:p.V507M,COG5:NM_006348:exon14:c.G1519A:p.V507M,COG5:NM_181733:exon14:c.G1519A:p.V507M	Congenital disorder of glycosylation, type IIi	4	1517	1	0	0	1	0.000329489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.352	0.0383147976175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.006	0.70582	D	0.997	0.73220	D	0.953	0.75168	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	3.27	0.90083	M	0.24	0.59583	T	-2.38	0.52451	N	0.907	0.90818	-0.3200	0.74421	T	0.385	0.74061	T	10	0.8139026	0.80647	D	0.038315	0.58150	D	0.352	0.67326	0.376	0.38994	0.798596760564	0.79672	0.6837286937653266	0.68311	0.346466417357	0.36554	0.651236593723	0.60161	T	0.182679	0.53478	T	0.331308	0.85250	D	0.238124	0.85054	D	0.976183116436005	0.71265	D	0.949705	0.80662	D	0.37748802	0.59134	0.41227487	0.65435	0.37748802	0.59134	0.41227487	0.65435	-6.398	0.51145	T	.	.	0.617	0.69592	P	.;.;.	.;.;.	4.860829	0.79544	27.1	0.99885261416270976	0.96049	0.97793	0.77174	D	AEFI	0.817280	0.73881	D	0.743695880027006	0.82493	7.776334	0.728053434146827	0.84507	8.311622	0.999952295579123	0.48110	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	6.17	5.3	0.74745	7.123000	0.76796	5.961000	0.51824	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.9348:0.0:0.0652	15.699	0.77287	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	.	.	.	.	.	.	.	.	0.02632	1277.33	34	chr7	107281356	.	C	T	1277.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.27;DP=735;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.11;ReadPosRankSum=-1.459;SOR=0.73	GT:AD:DP:GQ:PL	0/1:62,53:115:99:1291,0,1463	18	0	1	0
chr7	117760606	117760606	G	A	exonic	CTTNBP2	.	nonsynonymous SNV	CTTNBP2:NM_001363349:exon10:c.C2947T:p.R983C,CTTNBP2:NM_001363350:exon10:c.C904T:p.R302C,CTTNBP2:NM_001363351:exon10:c.C904T:p.R302C,CTTNBP2:NM_033427:exon10:c.C3001T:p.R1001C	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	0.0453424139496	.	.	7.415e-05	0	8.649e-05	0	0	8.991e-05	0	0.0001	5.82e-05	9	154602	rs746196335	4.857e-05	4.925e-05	2.995e-05	6.738e-05	0.0002	3.926e-05	3.605e-05	0.0001	0.0001	5.975e-05	4.472e-05	0	0	0	0	4.227e-05	3.312e-05	0.0002	3.944e-05	3.938e-05	3.857e-05	4.035e-05	4.411e-05	1.716e-05	1.13e-05	1.171e-05	6.25e-06	2.41e-05	0	0	0	0	0	0.0034	4.411e-05	0.0005	0	0.003	0.68238	D	0.014	0.62352	D	0.996	0.68779	D	0.708	0.54437	P	0.002701	0.36102	N	0.340042	0.999979	0.53665	D	2.695	0.78878	M	-0.23	0.66652	T	-1.42	0.34992	N	0.786	0.78262	-0.0546	0.81108	T	0.444	0.78118	T	10	0.77505493	0.77390	D	0.045342	0.61936	D	0.457	0.75551	0.55	0.66576	0.887497219877	0.88639	0.6639491779422291	0.66331	0.382340480175	0.39563	0.635876178741	0.57978	T	0.177029	0.52718	T	0.0988897	0.64173	D	0.200464	0.83154	D	0.267258932015646	0.23630	T	0.870713	0.57574	D	0.080461256	0.18436	0.08360214	0.19169	0.080461256	0.18436	0.08360214	0.19169	-3.748	0.20029	T	.	.	0.119	0.24396	B	.	.	5.236876	0.87916	29.4	0.9992061991000567	0.98721	0.95791	0.66169	D	AEFDBCIJ	0.816756	0.73841	D	0.741148210605627	0.82326	7.735394	0.726361958080759	0.84379	8.275853	0.999999999343034	0.74766	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.4	5.4	0.77957	5.310000	0.65568	5.964000	0.51876	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	19.541	0.95268	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	.	.	.	.	.	.	.	.	0.02632	2144.33	33	chr7	117760606	.	G	A	2144.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.645;DP=803;ExcessHet=0;FS=6.576;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.39;ReadPosRankSum=0.994;SOR=0.383	GT:AD:DP:GQ:PL	0/1:83,90:173:99:2158,0,2035	18	0	1	0
chr7	124032238	124032238	T	C	exonic	TMEM229A	.	nonsynonymous SNV	TMEM229A:NM_001136002:exon1:c.A766G:p.I256V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.00309682352866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.781	0.03280	T	0.592	0.08161	T	0.394	0.34702	B	0.12	0.32230	B	.	.	.	.	0.905131	0.27622	N	0.81	0.20779	L	1.18	0.37746	T	0.3	0.04091	N	0.102	0.08506	-1.0447	0.15913	T	0.043	0.18451	T	9	0.08238995	0.13593	T	0.003097	0.06726	T	0.028	0.06331	0.306	0.27646	0.0884992946249	0.08302	0.5384612323208492	0.53771	.	.	0.549685418606	0.45813	T	0.019	0.15464	T	-0.165	0.25994	T	-0.474787	0.25003	T	0.396950924387161	0.28827	T	0.730627	0.34608	T	0.09667316	0.22774	0.14163347	0.33721	0.09667316	0.22774	0.14163347	0.33720	-1.938	0.02956	T	.	.	0.222	0.45323	B	.	.	2.108335	0.26829	17.25	0.91703689414627898	0.20998	0.47574	0.28013	N	AEFBCI	0.167188	0.29384	N	-0.287457512271222	0.29631	1.644968	-0.111154528697024	0.34940	2.015554	0.999416261887452	0.39577	0.437478	0.07067	0	0.563428	0.19063	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	5.43	4.26	0.49832	2.136000	0.41744	4.125000	0.41997	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.1789:0.8211	9.465	0.37973	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	.	.	.	.	.	.	.	.	0.09375	177.33	129	chr7	124032238	.	T	C	177.33	.	AC=3;AF=0.094;AN=32;BaseQRankSum=-4.117;DP=1728;ExcessHet=0.3672;FS=117.616;InbreedingCoeff=-0.1339;MLEAC=3;MLEAF=0.094;MQ=60;MQRankSum=0;QD=0.37;ReadPosRankSum=1.11;SOR=9.825	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:148,27:175:99:0|1:124032236_G_A:132,0,4583:124032236	13	0	3	3
chr7	128321277	128321277	G	A	exonic	RBM28	.	nonsynonymous SNV	RBM28:NM_001166135:exon10:c.C1129T:p.R377C,RBM28:NM_018077:exon14:c.C1552T:p.R518C	.	0	1518	4	0	0	4	0.00131579	.	.	.	722291	not_provided|RBM28-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.176	0.0277910305922	0.0022	0.000199681	0.0020	0.0005	0.0007	0.0001	0.0005	0.0032	0	0.0010	0.0021798	337	154602	rs138112810	0.0032	0.0032	0.0033	0.0031	0.0038	0.0031	0.0031	0.0037	0.0037	0.0006	0.0006	0.0064	0	0.0006	0	0.0038	0.0022	0.0008	0.0018	0.0018	0.0020	0.0016	0.0031	0.0016	0.0016	0.0028	0.0027	0.0006	0	0.0003	0.0072	0	0.0004	0	0.0031	0.0005	0.0004	0.001	0.78490	D	0.014	0.62352	D	0.999	0.77913	D	0.91	0.64641	D	0.000006	0.62929	D	0.109289	1	0.81001	D	2.58	0.75369	M	1.25	0.36512	T	-3.18	0.72240	D	0.435	0.47395	-0.6649	0.62059	T	0.228	0.59258	T	10	0.010328591	0.00230	T	0.027791	0.50556	D	0.176	0.44373	.	.	0.521122704751	0.51755	0.5818606474319651	0.58115	0.666767740789	0.59216	0.368247568607	0.20580	T	0.130224	0.45899	T	-0.257917	0.13145	T	-0.133862	0.60645	T	0.0474579261983287	0.05047	T	0.872513	0.58047	D	0.23148973	0.45922	0.20272063	0.44315	0.25579935	0.48616	0.19872774	0.43718	-7.365	0.59375	T	.	.	0.104	0.21950	B	.;.	.;.	4.686874	0.75062	26.3	0.99930919187998501	0.99387	0.96526	0.69580	D	AEFDBI	0.557643	0.56719	D	0.588827567801244	0.72476	5.811861	0.617063125324803	0.76178	6.443471	0.999995914863677	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.72	5.72	0.89380	3.892000	0.55947	1.503000	0.26970	0.656000	0.54149	1.000000	0.71638	0.002000	0.18203	0.979000	0.57723	0.0:0.0:1.0:0.0	17.383	0.87299	645	0.63593	RNA recognition motif domain|RNA recognition motif 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	0.000505	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1158.33	43	chr7	128321277	.	G	A	1158.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.82;DP=778;ExcessHet=0;FS=1.624;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.53;ReadPosRankSum=1.94;SOR=0.929	GT:AD:DP:GQ:PL	0/1:67,43:110:99:1172,0,1606	18	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	0.3462	3537.59	237	chr7	128479325	.	T	C	3537.59	.	AC=9;AF=0.346;AN=26;BaseQRankSum=2.39;DP=4144;ExcessHet=5.3738;FS=36.404;InbreedingCoeff=-0.4618;MLEAC=11;MLEAF=0.423;MQ=57.58;MQRankSum=-13.85;QD=1.75;ReadPosRankSum=-3.77;SOR=5.175	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:193,26:219:99:0|1:128479325_T_C:482,0,7992:128479325	4	0	9	6
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	0.375	3542.4	237	chr7	128479326	.	G	C	3542.4	.	AC=9;AF=0.375;AN=24;BaseQRankSum=1.86;DP=4339;ExcessHet=5.3738;FS=36.404;InbreedingCoeff=-0.4902;MLEAC=12;MLEAF=0.5;MQ=57.62;MQRankSum=-13.85;QD=1.75;ReadPosRankSum=-3.735;SOR=5.175	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:193,26:219:99:0|1:128479325_T_C:482,0,7992:128479325	3	0	9	7
chr7	138621107	138621107	C	A	exonic	SVOPL	.	nonsynonymous SNV	SVOPL:NM_174959:exon10:c.G836T:p.G279V,SVOPL:NM_001331192:exon11:c.G1019T:p.G340V,SVOPL:NM_001139456:exon14:c.G1292T:p.G431V	.	427	1076	19	0	0	19	0.00875173	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.859	0.104671377833	0.0013	0.00159744	0.0025	0.0005	0.0065	0	0	0.0018	0.0034	0.0057	0.0022509	348	154602	rs142327276	0.0020	0.0020	0.0019	0.0022	0.0064	0.0020	0.0019	0.0051	0.0049	0.0004	0.0029	0.0013	0	1.873e-05	0.0064	0.0019	0.0021	0.0055	0.0011	0.0011	0.0011	0.0011	0.0039	0.0010	0.0009	0.0026	0.0021	0.0004	0	0.0007	0.0014	0	0	0.0034	0.0017	0.0014	0.0039	0.002	0.78490	D	0.006	0.72224	D	0.989	0.62824	D	0.88	0.62516	P	0.000000	0.84330	D	0.052767	1	0.81001	D	3.64	0.94097	H	-1.11	0.77466	T	-8.02	0.96567	D	0.978	0.99100	0.380	0.88793	D	0.585	0.85109	D	10	0.11376256	0.21381	T	0.104671	0.77937	D	0.859	0.95691	.	.	0.913165136402	0.91229	0.9511391303310808	0.95097	0.265635106217	0.29118	0.770900249481	0.77559	T	0.337631	0.70700	T	0.0618352	0.59843	T	0.31755	0.88990	D	0.114464696492018	0.13880	T	0.907509	0.67274	D	0.9603125	0.97311	0.923299	0.96630	0.9603125	0.97312	0.923299	0.96630	-11.181	0.83858	D	.	.	0.917	0.87601	P	.;.;.;.	.;.;.;.	4.655699	0.74259	26.1	0.99754041166120622	0.84537	0.96474	0.69319	D	AEFDBI	0.867643	0.78748	D	0.806585240734171	0.86516	8.910727	0.760616659801487	0.86949	9.055919	0.999530929563314	0.40238	0.553676	0.25195	0	0.588066	0.40923	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.33	5.33	0.75683	5.430000	0.66239	5.959000	0.51789	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.883000	0.42306	0.0:1.0:0.0:0.0	19.016	0.92873	905	0.23532	.;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	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010574	0.000000	0.010870	0.023392	0.000000	0.017241	0.009146	0.003788	0.05263	2050.83	48	chr7	138621107	.	C	A	2050.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.4;DP=846;ExcessHet=0.119;FS=4.595;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.58;ReadPosRankSum=-0.733;SOR=0.926	GT:AD:DP:GQ:PL	0/1:52,54:106:99:1419,0,1346	17	0	2	0
chr7	143478290	143478290	A	G	exonic	TAS2R41	.	nonsynonymous SNV	TAS2R41:NM_176883:exon1:c.A418G:p.I140V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.00241750934598	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs373019967	6.544e-06	0.0009	4.362e-06	8.725e-06	7.733e-06	3.08e-06	2.23e-06	3.33e-06	2.4e-06	0	0	0	0	1.901e-05	0	7.733e-06	0	0	0	1.985e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.149	0.24758	T	0.412	0.14456	T	0.08	0.24543	B	0.074	0.28220	B	0.947612	0.07634	N	1.033800	1	0.08975	N	1.015	0.25427	L	5.65	0.00784	T	-0.47	0.15178	N	0.052	0.02366	-0.9758	0.35948	T	0.003	0.01092	T	10	0.07525703	0.11609	T	0.002418	0.04757	T	0.028	0.06331	0.652	0.78963	0.101711395817	0.09552	0.04758141662796776	0.04701	0.0497017490909	0.05451	0.254782557487	0.04288	T	0.002724	0.02115	T	-0.393424	0.02556	T	-0.802903	0.01831	T	0.103939465538467	0.12785	T	.	.	.	0.047795918	0.08228	0.037618708	0.03453	0.047795918	0.08227	0.037618708	0.03453	-3.217	0.12689	T	.	.	0.092	0.13503	B	.	.	-1.055815	0.00695	0.020	0.53951675314367431	0.05040	0.01208	0.04299	N	AEFBI	0.032596	0.03711	N	-1.54910637092624	0.01540	0.06726581	-1.68964110834314	0.01184	0.05327442	0.999999965671774	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.7	-8.61	0.00769	-1.143000	0.03311	-0.836000	0.07236	-0.773000	0.03420	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.279:0.1065:0.5102:0.1042	6.528	0.21510	819	0.41190	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	2076.13	76	chr7	143478290	.	A	G	2076.13	.	AC=9;AF=0.25;AN=36;BaseQRankSum=-3.068;DP=1751;ExcessHet=5.3738;FS=194.204;InbreedingCoeff=-0.3257;MLEAC=9;MLEAF=0.25;MQ=60;MQRankSum=0;QD=2.12;ReadPosRankSum=1.27;SOR=10.928	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:76,37:113:99:.:.:255,0,2015:.	9	0	9	1
chr7	151396015	151396015	C	T	exonic	WDR86	.	nonsynonymous SNV	WDR86:NM_001284260:exon3:c.G487A:p.G163R,WDR86:NM_001284261:exon3:c.G103A:p.G35R,WDR86:NM_001284262:exon3:c.G103A:p.G35R,WDR86:NM_198285:exon3:c.G487A:p.G163R	.	420	1099	3	0	0	3	0.00136302	.	.	.	2373632	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.061	0.0166521535056	.	0.000399361	0.0006	0	0	0	0	0.0008	0.0038	0.0004	0.0003816	59	154602	rs61740829	0.0007	0.0007	0.0007	0.0008	0.0009	0.0007	0.0007	0.0008	0.0008	9.015e-05	9.114e-05	0	2.544e-05	5.949e-05	0	0.0009	0.0006	0.0005	0.0004	0.0004	0.0003	0.0005	0.0007	0.0003	0.0003	0.0005	0.0005	0.0002	0	0.0002	0	0	0.0002	0	0.0007	0	0.0004	0.554	0.53900	T	0.108	0.47581	T	0.072	0.23997	B	0.036	0.22909	B	0.802945	0.06780	N	1.110520	0.999957	0.19072	N	1.935	0.51832	L	1.73	0.65378	T	-2.2	0.64593	N	0.145	0.40665	-0.9877	0.33175	T	0.146	0.47111	T	9	0.021077573	0.00497	T	0.016652	0.38007	T	0.061	0.17616	0.718	0.85319	0.472663046089	0.46895	0.41491626949396654	0.41407	0.453577322368	0.45046	0.500203073025	0.38857	T	0.045058	0.27007	T	-0.372628	0.03463	T	-0.395977	0.33852	T	0.0160549866799867	0.00385	T	0.727427	0.34485	T	0.06372792	0.13447	0.07295808	0.15800	0.06372792	0.13447	0.07295808	0.15800	-7.074	0.56437	T	.	.	0.115	0.50826	B	.;.;.;.;.	.;.;.;.;.	1.515084	0.19458	14.27	0.99747910615865787	0.84002	0.10318	0.15858	N	AEFDBHCI	0.062956	0.12134	N	-0.684898661915472	0.16451	0.8383215	-0.702313570626136	0.16902	0.896366	0.99573840494738	0.34294	0.700653	0.57754	0	0.547309	0.14657	0	0.717052	0.78885	0	0.613276	0.41899	0	.	.	4.75	1.62	0.22817	0.810000	0.26841	0.650000	0.20403	0.545000	0.25583	0.004000	0.16614	0.015000	0.20450	0.055000	0.15596	0.0:0.3797:0.3497:0.2706	4.141	0.09662	964	0.07719	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	0.001011	0.000000	0.000000	0.000000	0.000000	0.000000	0.003067	0.003817	0.02632	825.33	33	chr7	151396015	.	C	T	825.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.74;DP=714;ExcessHet=0;FS=0.869;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.58;ReadPosRankSum=-0.539;SOR=0.858	GT:AD:DP:GQ:PL	0/1:46,32:78:99:839,0,1131	18	0	1	0
chr7	152229940	152229940	A	G	exonic	KMT2C	.	nonsynonymous SNV	KMT2C:NM_170606:exon18:c.T2959C:p.Y987H	.	526	320	669	7	0	683	0.516251	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.432	.	.	.	0.4728	0.4914	0.4863	0.4887	0.4732	0.4636	0.4765	0.4809	0.0018057	47	26028	rs77735469	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	0.001979	0.37549	U	0.000000	0.971252	0.38857	D	2.22	0.62911	M	-2.28	0.87512	D	-4.01	0.75456	D	0.934	0.93959	0.656	0.92620	D	0.754	0.91609	D	10	0.012159407	0.00262	T	.	.	.	0.815	0.94046	.	.	.	.	0.5529033843776924	0.55216	2.65390431601	0.98462	0.900072455406	0.96449	D	0.576893	0.86083	D	0.315486	0.84148	D	0.215397	0.83941	D	0.0127532117779022	0.00216	T	0.984602	0.94707	D	0.6018943	0.72793	0.5814447	0.75738	0.6018943	0.72794	0.5814447	0.75739	-9.256	0.69330	D	0.6635921527459159	0.73748	0.854	0.79986	P	.;.	.;.	4.408107	0.68175	25.2	0.99273378386417865	0.57627	0.99067	0.90742	D	AEFBI	0.864295	0.78306	D	0.740431229350387	0.82279	7.723933	0.698705506977523	0.82280	7.728171	0.999787248307013	0.43007	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	4.67	4.67	0.58089	9.318000	0.95450	11.148000	0.87267	0.689000	0.82905	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	14.405	0.66648	929	0.16858	Zinc finger, PHD-finger|Zinc finger, RING-type|Zinc finger, PHD-type;Zinc finger, PHD-finger|Zinc finger, RING-type|Zinc finger, PHD-type	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.454123	0.322785	0.464481	0.464912	0.428571	0.473214	0.474638	0.463115	0.4737	21366.3	445	chr7	152229940	.	A	G	21366.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.758;DP=6155;ExcessHet=38.2876;FS=0;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=44.67;MQRankSum=0.851;QD=3.8;ReadPosRankSum=0.116;SOR=0.691	GT:AD:DP:GQ:PL	0/1:290,45:335:99:269,0,10757	1	0	18	0
chr7	158876640	158876640	A	T	exonic	DYNC2I1	.	nonsynonymous SNV	DYNC2I1:NM_001350914:exon4:c.A384T:p.E128D,DYNC2I1:NM_001350915:exon4:c.A5T:p.K2M,DYNC2I1:NM_018051:exon4:c.A522T:p.E174D	.	428	1092	1	1	0	3	0.00137174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.00417590459596	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.104e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.201	0.20306	T	0.091	0.40110	T	0.0	0.02946	B	0.001	0.04355	B	0.045034	0.23578	N	0.436251	0.999027	0.21700	N	.	.	.	1.81	0.25182	T	-1.11	0.28703	N	0.127	0.12055	-1.0250	0.22083	T	0.047	0.20195	T	10	0.07256076	0.10846	T	0.004176	0.10026	T	0.055	0.15663	0.188	0.09776	0.300110245524	0.29617	0.014763719482595795	0.01433	0.224652461298	0.24998	0.641570150852	0.58788	T	0.005159	0.04603	T	-0.327602	0.06294	T	-0.708354	0.05380	T	0.774872601032257	0.44735	D	0.408059	0.10511	T	0.063306116	0.13316	0.054113314	0.09247	0.063306116	0.13315	0.054113314	0.09247	-4.45	0.30229	T	.	.	0.096	0.15430	B	.	.	1.134913	0.15219	11.68	0.89667264372387145	0.18995	0.38130	0.25919	N	AEFDBI	0.055861	0.10280	N	-0.599688029729934	0.18954	0.9882469	-0.605299196765119	0.19357	1.038163	0.346616466967599	0.19639	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.683762	0.67416	0	.	.	4.05	-0.0343	0.13224	-0.273000	0.08580	0.605000	0.19970	0.719000	0.85364	0.590000	0.27666	0.919000	0.28284	0.992000	0.67800	0.5694:0.0:0.2181:0.2125	2.91	0.05381	952	0.10565	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	616.33	33	chr7	158876640	.	A	T	616.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.78;DP=682;ExcessHet=0;FS=7.176;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.94;ReadPosRankSum=0.155;SOR=1.609	GT:AD:DP:GQ:PL	0/1:40,22:62:99:630,0,973	18	0	1	0
chr7	159103833	159103833	G	A	exonic	VIPR2	.	nonsynonymous SNV	VIPR2:NM_001304522:exon4:c.C281T:p.T94M,VIPR2:NM_003382:exon4:c.C281T:p.T94M	.	.	.	.	.	.	.	.	.	.	.	3345718	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.492	0.0864093053315	.	.	8.24e-05	0	0.0003	0.0001	0	8.994e-05	0	0	7.76e-05	12	154602	rs539276528	0.0001	0.0001	0.0001	9.626e-05	0.0002	9.468e-05	8.95e-05	0.0001	9.247e-05	2.987e-05	0.0002	3.826e-05	2.519e-05	0	0	0.0001	0.0003	1.159e-05	7.23e-05	7.224e-05	0.0001	4.036e-05	0.0002	3.972e-05	3.128e-05	4.765e-05	3.339e-05	0	0	6.546e-05	0	0.0002	0	0	0.0001	0.0010	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.99	0.78936	D	0.000066	0.52346	D	0.000000	0.999955	0.52396	D	3.04	0.86592	M	-0.28	0.67543	T	-5.48	0.85844	D	0.634	0.69825	-0.0295	0.81641	T	0.483	0.80255	T	9	0.77783537	0.77605	D	0.086409	0.74731	D	0.492	0.77847	.	.	0.60515314879	0.60199	0.768010220200769	0.76750	0.74072417592	0.63247	0.567842483521	0.48372	T	0.387883	0.74869	T	-0.117299	0.33568	T	-0.108709	0.62715	T	0.792086958885193	0.45826	D	0.990021	0.97222	D	0.74012685	0.80299	0.56290865	0.74706	0.74012685	0.80301	0.56290865	0.74707	-10.69	0.77930	D	.	.	0.418	0.60555	A	.;.	.;.	4.953646	0.81849	27.6	0.99854718358119865	0.93368	0.87280	0.46771	D	AEFGBI	0.557740	0.56724	D	0.478842127855157	0.65855	4.875375	0.350348248125942	0.58529	4.023884	0.99999998918011	0.74766	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	5.0	5.0	0.66209	5.695000	0.67940	11.102000	0.86142	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.495000	0.28905	0.0:0.0:1.0:0.0	14.155	0.64942	982	0.03397	GPCR, family 2, extracellular hormone receptor domain|GPCR, family 2, extracellular hormone receptor domain|GPCR, family 2, extracellular hormone receptor domain;GPCR, family 2, extracellular hormone receptor domain|GPCR, family 2, extracellular hormone receptor domain|GPCR, family 2, extracellular hormone receptor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1484.33	33	chr7	159103833	.	G	A	1484.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.01;DP=844;ExcessHet=0;FS=3.394;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.91;ReadPosRankSum=-2.213;SOR=0.837	GT:AD:DP:GQ:PL	0/1:57,58:115:99:1498,0,1218	18	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	.	.	.	.	.	.	.	.	0.1562	19088.4	307	chr8	10609948	.	C	T	19088.4	.	AC=5;AF=0.156;AN=32;BaseQRankSum=-3.359;DP=4756;ExcessHet=20.8569;FS=294.975;InbreedingCoeff=-0.7674;MLEAC=6;MLEAF=0.188;MQ=60;MQRankSum=0;QD=4.95;ReadPosRankSum=2.02;SOR=14.328	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:187,78:265:99:0|1:10609943_C_T:1126,0,5815:10609943	11	0	5	3
chr8	11331743	11331743	C	G	exonic	SLC35G5	.	nonsynonymous SNV	SLC35G5:NM_054028:exon1:c.C637G:p.L213V	.	437	1071	13	1	0	15	0.0069541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	.	.	0.0071885	0.0012	0.0111	0.0003	0	0.0009	0.0002	0	0.0002	0.0013001	201	154602	rs144998869	0.0002	0.0002	0.0002	0.0002	0.0005	0.0002	0.0001	0.0002	0.0001	3e-05	0.0003	0	0	0.0014	0.0005	0.0001	0.0001	0.0002	0.0002	0.0006	0.0003	0.0001	0.0007	0.0001	0.0001	0.0004	0.0003	0.0001	0	0.0007	0	0	0.0003	0	0.0001	0.0005	0	0.295	0.14743	T	0.0	0.92824	D	0.999	0.77913	D	0.998	0.88582	D	0.002848	0.35836	N	0.000000	1	0.08975	N	0.895	0.22405	L	1.61	0.28391	T	-0.43	0.14390	N	0.099	0.08088	-1.0105	0.26760	T	0.109	0.39392	T	8	0.005474597	0.00121	T	.	.	.	0.053	0.14996	.	.	0.0762999501168	0.06990	0.3322923487058381	0.33142	0.402940989994	0.41237	0.479038119316	0.35924	T	0.010679	0.09617	T	-0.32346	0.06618	T	-0.702405	0.05695	T	0.0159262346888108	0.00376	T	.	.	.	0.10198477	0.24094	0.09978295	0.23836	0.10198477	0.24094	0.09978295	0.23835	-5.153	0.38460	T	.	.	0.138	0.30184	B	.	.	2.483401	0.32028	18.92	0.71202136996773568	0.09549	0.00447	0.02174	N	AEFDBI	0.030890	0.03194	N	-0.5292923063996	0.21138	1.119565	-0.830154295982772	0.13766	0.7158785	0.384010616121496	0.19986	0.580535	0.33130	0	0.514364	0.08380	0	0.576033	0.28219	0	0.645665	0.59343	0	.	.	.	.	.	-0.190000	0.09612	.	.	0.088000	0.17592	0.941000	0.32681	0.997000	0.33255	0.118000	0.19084	.	.	.	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	0.001101	0.000000	0.001366	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1511.33	96	chr8	11331743	.	C	G	1511.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.369;DP=1608;ExcessHet=0;FS=1.584;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=52.42;MQRankSum=1.05;QD=13.99;ReadPosRankSum=-1.601;SOR=0.941	GT:AD:DP:GQ:PL	0/1:54,54:108:99:1525,0,1538	18	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	.	.	.	.	.	.	.	.	0.02632	3616.33	35	chr8	11785992	.	A	G	3616.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.448;DP=1257;ExcessHet=0;FS=1.902;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.01;ReadPosRankSum=-0.507;SOR=0.635	GT:AD:DP:GQ:PL	0/1:151,150:301:99:3630,0,4284	18	0	1	0
chr8	12137437	12137437	C	T	exonic	USP17L2	.	nonsynonymous SNV	USP17L2:NM_201402:exon1:c.G1324A:p.E442K	.	519	993	10	0	0	10	0.00501002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.00289120537799	.	.	0.0002	0.0005	0	0.0014	0	0.0001	0	0	3.84e-05	1	26028	rs760152249	0.0001	0.0002	0.0001	9.548e-05	0.0005	9.804e-05	9.261e-05	0.0003	0.0002	0.0005	9.515e-05	0	8.79e-05	0	0.0002	0.0001	0.0003	0	0.0002	0.0003	0.0002	0.0002	0.0005	0.0001	0.0001	0.0002	0.0002	0.0002	0	0.0005	0	0	0	0	0.0001	0	0	0.046	0.40573	D	0.315	0.19421	T	0.955	0.54515	P	0.877	0.62241	P	0.386864	0.13311	U	0.626565	1	0.08975	N	2.345	0.67358	M	0.67	0.52187	T	-1.74	0.41239	N	0.102	0.08506	-1.0134	0.25848	T	0.148	0.47469	T	10	0.06317812	0.08191	T	0.002891	0.06104	T	0.064	0.18567	.	.	0.658206160193	0.65534	0.09251944187760013	0.09183	0.926036099854	0.71641	0.556424319744	0.46762	T	0.005274	0.04719	T	-0.38663	0.02827	T	-0.500995	0.22244	T	0.178566470742226	0.19144	T	0.822818	0.48291	T	0.0676637	0.14674	0.09246446	0.21791	0.0676637	0.14673	0.09246446	0.21790	-3.185	0.12298	T	.	.	0.095	0.14706	B	.	.	2.451234	0.31561	18.78	0.99401488802999227	0.62841	0.02867	0.07637	N	AEFBI	0.036320	0.04819	N	-0.293805503822292	0.29386	1.629191	-0.534058386912178	0.21230	1.147535	2.44315400430417E-6	0.01202	0.549168	0.22868	0	0.627178	0.54094	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.745	0.745	0.17509	1.107000	0.30724	-0.021000	0.12925	0.272000	0.18543	0.085000	0.22462	0.000000	0.08366	0.031000	0.13245	0.0:1.0:0.0:0.0	4.913	0.13187	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.03333	5070.11	38	chr8	12137437	.	C	T	5070.11	.	AC=1;AF=0.033;AN=30;BaseQRankSum=0.753;DP=1176;ExcessHet=0;FS=3.292;InbreedingCoeff=-0.0345;MLEAC=1;MLEAF=0.033;MQ=59.86;MQRankSum=0.573;QD=18.57;ReadPosRankSum=-0.543;SOR=0.669	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:138,135:273:99:0|1:12137437_C_T:5082,0,5312:12137437	14	0	1	4
chr8	17621134	17621134	A	G	exonic	PDGFRL	.	nonsynonymous SNV	PDGFRL:NM_001372073:exon3:c.A437G:p.Q146R,PDGFRL:NM_006207:exon4:c.A437G:p.Q146R	Colorectal cancer, somatic;Hepatocellular cancer, somatic	7	1511	4	0	0	4	0.00132188	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.00793139708464	0.0003	0.000199681	0.0002	0	0.0004	0	0	0.0002	0.0011	6.065e-05	0.0001682	26	154602	rs144384825	0.0001	0.0001	0.0001	0.0001	0.0036	9.955e-05	9.362e-05	0.0024	0.0021	5.986e-05	0.0004	0	0	1.873e-05	0.0036	8.106e-05	0.0004	0.0001	0.0001	0.0001	0.0001	0.0001	0.0006	9.144e-05	7.7e-05	0.0002	8.989e-05	2.406e-05	0	0.0003	0.0003	0	0	0	0.0001	0.0009	0.0006	0.175	0.22400	T	0.261	0.22962	T	0.002	0.09854	B	0.006	0.12133	B	0.000109	0.50451	N	0.176762	0.721877	0.33626	D	1.045	0.26769	L	2.1	0.19990	T	-0.6	0.17834	N	0.332	0.37301	-1.0317	0.19905	T	0.039	0.16978	T	10	0.055345893	0.06036	T	0.007931	0.21033	T	0.091	0.26358	.	.	0.204665344411	0.20097	0.6603559432328214	0.65972	0.00574059871857	0.00500	0.366294801235	0.20299	T	0.013881	0.11924	T	-0.355145	0.04412	T	-0.446197	0.28117	T	0.0275267201565048	0.01619	T	0.676632	0.28519	T	0.08687169	0.20208	0.10541613	0.25339	0.08687169	0.20207	0.10541613	0.25338	-3.386	0.14869	T	.	.	0.087	0.11220	B	.;.	.;.	2.166471	0.27606	17.52	0.97198842502423133	0.32802	0.89620	0.50201	D	AEFBI	0.487387	0.52615	N	-0.314856963858563	0.28583	1.577775	-0.164372454612515	0.32858	1.873666	0.999976846193493	0.50053	0.643511	0.44296	0	0.588015	0.36545	0	0.658983	0.55881	0	0.631631	0.49550	0	.	.	5.27	4.08	0.46880	3.313000	0.51645	3.973000	0.40841	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.856000	0.40543	0.7997:0.0:0.0715:0.1288	7.303	0.25608	773	0.48803	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	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	0.003049	0.000000	0.02632	1202.33	34	chr8	17621134	.	A	G	1202.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.966;DP=730;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.49;ReadPosRankSum=0.122;SOR=0.767	GT:AD:DP:GQ:PL	0/1:32,51:83:99:1216,0,837	18	0	1	0
chr8	23296097	23296097	A	C	exonic	R3HCC1	.	stoploss	R3HCC1:NM_001136108:exon8:c.A1323C:p.X441C,R3HCC1:NM_001301650:exon9:c.A1197C:p.X399C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.003	0.00025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.253457	0.13678	T	-0.60185	0.12656	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	0.993053	0.13709	10.25	0.78542417947018794	0.12346	0.12985	0.17597	N	AEFDGBHCI	.	.	.	0.308875575499837	0.56604	3.82527	-0.0196973747513916	0.38827	2.293106	0.999993002895797	0.74766	0.188448	0.04014	1	0.149076	0.03524	2	0.333777	0.05875	0	0.318687	0.05536	1	0.0841756	0.19184	5.65	1.95	0.25130	0.896000	0.28009	4.101000	0.41864	0.756000	0.94297	0.111000	0.23011	0.998000	0.33993	0.112000	0.18829	0.6839:0.1548:0.1613:0.0	5.084	0.14010	639	0.64210	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	544.33	33	chr8	23296097	.	A	C	544.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.703;DP=637;ExcessHet=0;FS=6.477;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.66;ReadPosRankSum=-1.603;SOR=1.071	GT:AD:DP:GQ:PL	0/1:17,26:43:99:558,0,454	18	0	1	0
chr8	27290154	27290154	A	G	splicing	TRIM35	NM_171982:exon4:c.785+2T>C	.	.	.	.	.	.	.	.	.	.	0.8869	0.514	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0748476	0.61433	D	-0.130263	0.60951	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.703599	0.75492	26.3	0.90130095546809885	0.19410	0.96933	0.71736	D	AEFGBI	.	.	.	0.69016396071031	0.78989	6.984	0.501267409523395	0.68077	5.170397	0.999881372110299	0.44867	0.156188	0.03335	0	0.156173	0.03658	0	0.137589	0.03823	0	0.074	0.01840	0	0.327858	0.35627	5.37	4.2	0.48814	4.810000	0.62289	9.303000	0.79891	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.818:0.182:0.0:0.0	9.262	0.36779	622	0.65860	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1027.33	43	chr8	27290154	.	A	G	1027.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.44;DP=739;ExcessHet=0;FS=0.794;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.05;ReadPosRankSum=0.184;SOR=0.872	GT:AD:DP:GQ:PL	0/1:55,38:93:99:1041,0,1571	18	0	1	0
chr8	28029334	28029334	G	A	exonic	NUGGC	.	nonsynonymous SNV	NUGGC:NM_001010906:exon17:c.C2086T:p.R696W	.	415	1094	13	0	0	13	0.00590641	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	.	0.0008	0.00279553	0.0027	0.0005	0.0054	0	0.0029	0.0015	0.0096	0.0084	0.0020828	322	154602	rs200971147	0.0015	0.0015	0.0013	0.0017	0.0081	0.0015	0.0015	0.0076	0.0074	0.0001	0.0033	0.0009	2.526e-05	0.0032	0.0059	0.0010	0.0016	0.0081	0.0015	0.0015	0.0014	0.0016	0.0084	0.0013	0.0013	0.0063	0.0056	0.0001	0	0.0021	0.0035	0	0.0038	0	0.0014	0.0014	0.0084	0.017	0.51248	D	0.0	0.92824	D	0.998	0.73220	D	0.609	0.51053	P	0.083098	0.20772	N	0.476548	0.530492	0.31495	N	2.19	0.61577	M	2.35	0.16217	T	-2.86	0.60188	D	0.49	0.52386	-1.0457	0.15621	T	0.040	0.17191	T	10	0.0072264373	0.00164	T	.	.	.	0.112	0.31546	.	.	0.59589940523	0.59269	0.236100240792046	0.23525	0.366078253809	0.38189	0.307676851749	0.11556	T	0.070758	0.34041	T	-0.45371	0.01074	T	-0.419654	0.31115	T	0.0311100688441246	0.02164	T	0.511749	0.16382	T	0.07774786	0.17664	0.09231025	0.21749	0.07774786	0.17664	0.09231025	0.21748	-6.549	0.50663	T	.	.	0.116	0.23325	B	.	.	4.735803	0.76327	26.5	0.99921708139172249	0.98787	0.55350	0.29842	D	AEFDBI	0.459069	0.50983	N	0.281884511151786	0.55230	3.687214	0.298831216429642	0.55472	3.710143	0.50181484471757	0.20949	0.623552	0.39893	0	0.659912	0.62753	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.56	3.53	0.39533	2.535000	0.45343	4.778000	0.44817	0.676000	0.76740	0.820000	0.29989	1.000000	0.68203	0.993000	0.69303	0.0:0.1587:0.593:0.2483	7.050	0.24244	785	0.46916	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.005435	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1446.33	47	chr8	28029334	.	G	A	1446.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.914;DP=776;ExcessHet=0;FS=0.721;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.52;ReadPosRankSum=-0.034;SOR=0.656	GT:AD:DP:GQ:PL	0/1:50,57:107:99:1460,0,1139	18	0	1	0
chr8	28780872	28780872	G	C	exonic	INTS9	.	nonsynonymous SNV	INTS9:NM_001145159:exon11:c.C1158G:p.H386Q,INTS9:NM_001172562:exon12:c.C1149G:p.H383Q,INTS9:NM_001363038:exon12:c.C1221G:p.H407Q,INTS9:NM_018250:exon12:c.C1221G:p.H407Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.284	0.016436562205	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.053e-06	2.942e-05	2.723e-06	1.375e-06	2.699e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.007	0.69154	D	0.943	0.53072	P	0.823	0.59197	P	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.935	0.51832	L	0.9	0.46412	T	-6.4	0.91184	D	0.958	0.97317	-0.8865	0.49231	T	0.159	0.49296	T	10	0.78347826	0.78049	D	0.016437	0.37697	T	0.284	0.60219	0.331	0.31681	0.611786747218	0.60866	0.7458400941079445	0.74530	1.09661947037	0.77599	0.802756369114	0.82384	T	0.389927	0.75023	T	0.189418	0.72910	D	0.0343095	0.72559	D	0.994060456752777	0.85148	D	0.789321	0.45144	T	0.9127507	0.92552	0.8257955	0.89911	0.9127507	0.92554	0.8257955	0.89912	-11.639	0.83227	D	.	.	0.945	0.89314	P	.;.;.	.;.;.	3.184076	0.43231	21.7	0.99337460911012421	0.60051	0.90823	0.52327	D	AEFBI	0.386581	0.46689	N	0.15838004896007	0.49210	3.123909	0.105560327046998	0.44831	2.757433	0.984078514391494	0.30659	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.97	0.193	0.14419	0.609000	0.23935	1.081000	0.23892	0.676000	0.76740	1.000000	0.71638	0.999000	0.35428	1.000000	0.97212	0.5112:0.0:0.4888:0.0	10.624	0.44686	533	0.73433	Beta-Casp domain|Beta-Casp domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.3056	808.56	107	chr8	28780872	.	G	C	808.56	.	AC=11;AF=0.306;AN=36;BaseQRankSum=-3.658;DP=1552;ExcessHet=8.9063;FS=232.795;InbreedingCoeff=-0.3979;MLEAC=10;MLEAF=0.278;MQ=60;MQRankSum=0;QD=0.81;ReadPosRankSum=-0.439;SOR=11.492	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:67,16:83:1:.:.:1,0,1463:.	7	0	11	1
chr8	30837446	30837446	A	C	exonic	TEX15	.	nonsynonymous SNV	TEX15:NM_001350162:exon10:c.T8838G:p.I2946M	.	426	1084	12	0	0	12	0.00550459	.	.	.	706475	Spermatogenic_failure_25|not_provided	MONDO:MONDO:0054729,MedGen:C4693765,OMIM:617960|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.057	.	0.0006	0.00379393	0.0032	9.658e-05	0.0205	0.0001	0.0011	0.0011	0.0033	0.0038	0.0030336	469	154602	rs145215857	0.0015	0.0015	0.0014	0.0016	0.0172	0.0015	0.0014	0.0162	0.0158	0.0004	0.0172	0.0027	7.559e-05	0.0010	0.0023	0.0007	0.0016	0.0044	0.0023	0.0023	0.0020	0.0026	0.0154	0.0021	0.0020	0.0138	0.0132	0.0003	0	0.0154	0.0009	0.0006	0.0008	0.0068	0.0010	0.0014	0.0037	0.027	0.46513	D	0.097	0.39190	T	0.899	0.49514	P	0.729	0.55225	P	0.938055	0.08373	N	0.967667	1	0.08975	N	0.895	0.22405	L	2.61	0.13095	T	-0.94	0.25118	N	0.276	0.31253	-1.0297	0.20551	T	0.023	0.09832	T	10	0.005690396	0.00126	T	.	.	.	0.057	0.16321	.	.	0.193865811164	0.18958	0.041363890965025345	0.04081	0.130758939133	0.14752	0.390586495399	0.23752	T	0.075347	0.35156	T	-0.587065	0.00175	T	-0.601118	0.12718	T	0.045457989632063	0.04686	T	0.518348	0.16810	T	0.06517606	0.13902	0.06354929	0.12606	0.06005748	0.12279	0.066391885	0.13591	-4.493	0.30797	T	.	.	0.117	0.23814	B	.;.;.	.;.;.	2.186792	0.27882	17.61	0.99114415744400008	0.52828	0.21035	0.21258	N	AEFBI	0.099312	0.19995	N	-0.305901934390306	0.28922	1.599464	-0.439227757006416	0.23855	1.303162	0.00237497887188054	0.09366	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.17	0.065	0.13669	1.098000	0.30612	1.754000	0.28498	0.756000	0.94297	0.770000	0.29357	0.775000	0.26732	0.032000	0.13371	0.4866:0.1705:0.1792:0.1638	0.748	0.00923	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	1	0	0	0	0.001511	0.000000	0.002717	0.000000	0.000000	0.000000	0.006098	0.003788	0.02632	2596.33	35	chr8	30837446	.	A	C	2596.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.437;DP=838;ExcessHet=0;FS=3.252;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.45;ReadPosRankSum=1.19;SOR=0.623	GT:AD:DP:GQ:PL	0/1:100,93:193:99:2610,0,2787	18	0	1	0
chr8	31639995	31639995	G	C	exonic	NRG1	.	nonsynonymous SNV	NRG1:NM_013962:exon1:c.G11C:p.R4P	.	388	1119	14	1	0	16	0.00709849	.	.	.	104274	not_provided	MedGen:C3661900	no_classification_provided	not_provided	.	.	.	.	.	.	.	.	0.301	0.997998152407	.	.	0	0	0	0	.	0	0	0	0.00011	17	154602	rs367543150	0.0004	0.0004	0.0004	0.0005	0.0043	0.0004	0.0004	0.0026	0.0021	0	0.0004	0.0034	0	6.752e-05	0.0043	0.0004	0.0007	0.0001	0.0006	0.0006	0.0007	0.0004	0.0009	0.0005	0.0004	0.0006	0.0005	7.273e-05	0	0.0009	0.0035	0	0	0.0102	0.0007	0.0010	0	0.0	0.91255	D	0.0	0.92824	D	0.895	0.49247	P	0.18	0.35854	B	.	.	.	.	1	0.81001	D	.	.	.	-1.2	0.78537	T	0.79	0.01893	N	0.532	0.56058	-0.6431	0.63013	T	0.236	0.60355	T	8	0.021544874	0.00518	T	0.997998	0.99997	D	0.301	0.62179	.	.	0.440148150062	0.43634	.	.	.	.	.	.	.	.	.	.	-0.325522	0.06456	T	-0.290807	0.45689	T	0.23651533785535	0.22258	T	0.473453	0.15758	T	.	.	.	.	.	.	.	.	-3.394	0.14976	T	.	.	0.198	0.51201	B	.;.	.;.	2.570187	0.33303	19.30	0.98015627080999068	0.37589	0.70733	0.34713	D	AEFDBCI	0.498809	0.53275	N	0.0635187341004716	0.44767	2.744761	0.0472924769976856	0.41941	2.528304	0.996339271546913	0.34675	0.497415	0.19182	0	0.59043	0.45803	0	0.608004	0.38603	0	0.554799	0.18163	0	.	.	2.91	1.98	0.25351	3.585000	0.53686	4.179000	0.42325	0.334000	0.19664	1.000000	0.71638	1.000000	0.68203	0.926000	0.46234	0.1749:0.0:0.8251:0.0	5.162	0.14392	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	0	0	.	.	.	.	.	.	.	.	0.07895	5871.79	39	chr8	31639995	.	G	C	5871.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.593;DP=1098;ExcessHet=0.3672;FS=1.144;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=-0.728;SOR=0.795	GT:AD:DP:GQ:PL	0/1:65,67:132:99:1691,0,1602	16	0	3	0
chr8	52940047	52940047	T	C	exonic	NPBWR1	.	nonsynonymous SNV	NPBWR1:NM_005285:exon2:c.T140C:p.I47T	.	410	1111	1	0	0	1	0.000449843	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.429	0.0389407304028	0.0022	0.000599042	0.0017	0.0003	0.0003	0	0.0003	0.0024	0	0.0023	0.0016171	250	154602	rs138848391	0.0026	0.0026	0.0026	0.0026	0.0031	0.0025	0.0025	0.0030	0.0030	0.0004	0.0004	7.658e-05	0	0.0006	0.0005	0.0031	0.0016	0.0023	0.0015	0.0015	0.0016	0.0014	0.0027	0.0013	0.0013	0.0024	0.0023	0.0005	0	0.0009	0	0	0.0002	0	0.0027	0.0009	0.0010	0.001	0.78490	D	0.002	0.79402	D	0.998	0.73220	D	0.898	0.63708	P	0.000054	0.53742	D	0.000000	0.999999	0.58761	D	1.495	0.37439	L	0.95	0.43279	T	-3.06	0.63090	D	0.869	0.86618	-0.8656	0.50856	T	0.115	0.40897	T	10	0.11918974	0.22551	T	0.038941	0.58518	D	0.429	0.73590	.	.	0.744357315684	0.74205	0.43409411505032774	0.43326	0.54887571343	0.51811	0.919673144817	0.98298	D	0.363285	0.72906	T	-0.0688578	0.41510	T	0.124323	0.78520	D	0.0704486593188789	0.08714	T	0.725427	0.33942	T	0.65220183	0.75482	0.74982065	0.85212	0.65220183	0.75483	0.74982065	0.85213	-4.844	0.35100	T	.	.	0.875	0.81176	P	.	.	3.992713	0.58778	24.0	0.99772180147327316	0.86003	0.98724	0.86044	D	AEFDBHCI	0.847692	0.76454	D	0.459489097966039	0.64744	4.735893	0.504894010642126	0.68318	5.203713	0.999999999994188	0.74766	0.443343	0.08805	1	0.563428	0.19063	0	0.666236	0.60216	0	0.554799	0.18163	0	.	.	4.74	4.74	0.59717	7.690000	0.83452	4.714000	0.44471	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.955000	0.50612	0.0:0.0:0.0:1.0	14.397	0.66584	903	0.23940	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1904.33	45	chr8	52940047	.	T	C	1904.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.074;DP=843;ExcessHet=0;FS=4.357;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.46;ReadPosRankSum=-1.008;SOR=0.657	GT:AD:DP:GQ:PL	0/1:108,74:182:99:1918,0,3110	18	0	1	0
chr8	72568126	72568126	T	C	exonic	KCNB2	.	nonsynonymous SNV	KCNB2:NM_004770:exon2:c.T392C:p.I131T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.592	0.0551649391622	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.005	0.72224	D	0.982	0.60036	D	0.93	0.66466	D	.	.	.	.	0.999995	0.58761	D	0.205	0.09354	N	-0.97	0.75670	T	-3.55	0.68764	D	0.86	0.85660	-0.2786	0.75579	T	0.333	0.70026	T	9	0.8193847	0.81153	D	0.055165	0.66132	D	0.592	0.83747	0.427	0.47350	0.909612759745	0.90871	0.76148700511481	0.76096	1.25690945348	0.81934	0.951684474945	0.99785	D	0.641842	0.89027	D	0.318427	0.84359	D	0.219622	0.84156	D	0.924446704382473	0.58562	D	0.920608	0.71304	D	0.28000912	0.51049	0.35322383	0.60888	0.28000912	0.51049	0.35322383	0.60887	-4.84	0.35053	T	.	.	0.998	0.97009	P	.	.	4.856204	0.79421	27.1	0.99855413978733831	0.93458	0.98167	0.80181	D	AEFI	0.921860	0.89597	D	0.53268574687625	0.69034	5.300113	0.635276251618612	0.77519	6.694933	0.999989729781648	0.51787	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	6.07	6.07	0.98675	8.017000	0.88732	7.844000	0.70656	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	16.314	0.82741	953	0.10115	Potassium channel tetramerisation-type BTB 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	.	.	.	.	.	.	.	.	0.02632	180.33	34	chr8	72568126	.	T	C	180.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.823;DP=818;ExcessHet=0;FS=73.242;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.5;ReadPosRankSum=2.39;SOR=6.665	GT:AD:DP:GQ:PL	0/1:93,27:120:99:194,0,2204	18	0	1	0
chr8	89784141	89784143	TAA	-	splicing	RIPK2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1487635866	2.019e-05	3.64e-05	4.634e-06	3.477e-05	3.947e-05	1.049e-05	6.87e-06	1.18e-05	8.81e-06	0	0	0	0	0	0	2.514e-05	0	3.947e-05	0.0003	0.0006	0.0004	0.0001	0.0011	0.0001	9.507e-05	0.0002	7.938e-05	9.582e-05	0	0.0011	0	0	0.0024	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	383.72	15	chr8	89784140	.	GTAA	G	383.72	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.087;DP=481;ExcessHet=0.119;FS=7.059;InbreedingCoeff=-0.0788;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=9.59;ReadPosRankSum=3.87;SOR=1.85	GT:AD:DP:GQ:PL	0/1:14,6:25:99:280,0,371	17	0	2	0
chr8	89784141	89784145	TAAAA	0	splicing	RIPK2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	406.09	4	chr8	89784141	.	TAAAA	*	406.09	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.47;DP=362;ExcessHet=1.9404;FS=6.709;InbreedingCoeff=-0.234;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=5.72;ReadPosRankSum=-0.231;SOR=1.431	GT:AD:DP:GQ:PL	0/1:14,6:25:99:280,0,371	8	0	2	9
chr8	97277438	97277438	G	A	exonic	TSPYL5	.	nonsynonymous SNV	TSPYL5:NM_033512:exon1:c.C407T:p.P136L	.	.	.	.	.	.	.	.	.	.	.	711668	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.044	0.00344616969193	0.0029	0.00139776	0.0025	0.0006	0.0005	0	0.0086	0.0033	0.0013	0	0.0024773	383	154602	rs149847102	0.0044	0.0043	0.0045	0.0042	0.0049	0.0043	0.0042	0.0048	0.0048	0.0008	0.0006	0.0002	2.551e-05	0.0096	0	0.0049	0.0036	6.782e-05	0.0029	0.0029	0.0028	0.0030	0.0044	0.0027	0.0026	0.0040	0.0038	0.0006	0	0.0010	0.0003	0	0.0101	0	0.0044	0.0005	0	0.661	0.04685	T	0.547	0.09522	T	0.031	0.20130	B	0.014	0.16862	B	0.397543	0.13170	N	0.571496	0.95924	0.26194	N	2.08	0.57402	M	2.47	0.14783	T	-1.96	0.45404	N	0.151	0.15469	-1.0475	0.15102	T	0.020	0.08266	T	10	0.004634261	0.00097	T	0.003446	0.07755	T	0.044	0.11924	.	.	0.043077524339	0.03247	0.0937840084302968	0.09310	0.941547462996	0.72225	0.587910115719	0.51199	T	0.007177	0.06595	T	-0.604759	0.00136	T	-0.639136	0.09732	T	0.0221202841025847	0.00923	T	0.624238	0.24084	T	0.07861359	0.17911	0.07307501	0.15839	0.07861359	0.17911	0.07307501	0.15838	-4.183	0.26505	T	.	.	0.088	0.11510	B	.	.	2.392290	0.30723	18.52	0.93420051700665718	0.23187	0.16127	0.19243	N	AEFDBCI	0.047024	0.07874	N	-0.407241532407319	0.25215	1.367166	-0.264629529992746	0.29273	1.638668	0.999999468891511	0.74766	0.65757	0.49021	0	0.587265	0.34161	0	0.619478	0.44681	0	0.375	0.06713	1	.	.	4.3	4.3	0.50540	1.106000	0.30712	4.507000	0.43632	0.676000	0.76740	0.035000	0.20724	1.000000	0.68203	0.847000	0.40026	0.0:0.0:1.0:0.0	12.584	0.55761	777	0.48198	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1905.33	34	chr8	97277438	.	G	A	1905.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.76;DP=1118;ExcessHet=0;FS=7.76;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.61;ReadPosRankSum=1.64;SOR=0.307	GT:AD:DP:GQ:PL	0/1:71,69:140:99:1919,0,1760	18	0	1	0
chr8	99481683	99481683	A	G	exonic	VPS13B	.	nonsynonymous SNV	VPS13B:NM_017890:exon25:c.A3751G:p.T1251A,VPS13B:NM_152564:exon25:c.A3751G:p.T1251A	Cohen syndrome, Autosomal recessive	2	1499	20	1	0	22	0.00728477	.	.	.	101746	not_specified|Inborn_genetic_diseases|Cohen_syndrome|not_provided	MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0008999,MedGen:C0265223,OMIM:216550,Orphanet:193|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.070	.	0.0002	0.00379393	0.0015	0	0.0003	0.0001	0.0002	0.0004	0.0055	0.0088	0.0013842	214	154602	rs184693266	0.0008	0.0008	0.0005	0.0010	0.0082	0.0007	0.0007	0.0077	0.0075	5.974e-05	0.0005	0	5.039e-05	7.488e-05	0.0054	0.0002	0.0013	0.0082	0.0005	0.0005	0.0003	0.0008	0.0116	0.0004	0.0004	0.0092	0.0083	0	0	0.0001	0	0.0002	0	0.0034	0.0003	0.0005	0.0116	0.727	0.04817	T	0.552	0.09425	T	0.0	0.02946	B	0.0	0.01387	B	0.497181	0.11991	N	0.770342	0.999999	0.08975	N	-0.895	0.01383	N	1.06	0.39781	T	-0.02	0.07299	N	0.036	0.01068	-1.0165	0.24852	T	0.037	0.15813	T	10	0.0035998523	0.00065	T	.	.	.	0.070	0.20419	.	.	0.124217242631	0.12060	0.12317927300670956	0.12243	0.120175073764	0.13532	0.248080730438	0.03569	T	0.042896	0.26329	T	-0.69357	0.00040	T	-0.762644	0.03018	T	0.00169551011719796	0.00017	T	0.219778	0.02813	T	0.030021513	0.02593	0.03186478	0.01838	0.026885988	0.01805	0.0373216	0.03361	-3.773	0.20864	T	0.11245528078136643	0.09731	0.057	0.00553	B	.;.	.;.	-0.278280	0.02713	0.356	0.092862124846269573	0.00091	0.01469	0.04901	N	AEFDBI	0.021731	0.01002	N	-1.49096321422088	0.01913	0.08396976	-1.37595365088472	0.03510	0.163874	0.00875703580111092	0.11735	0.638212	0.43195	0	0.633656	0.55848	0	0.653264	0.51672	0	0.635551	0.53088	0	.	.	5.08	2.3	0.27735	1.090000	0.30514	0.173000	0.15542	-0.748000	0.03609	0.166000	0.23880	0.000000	0.08366	0.003000	0.05239	0.2288:0.0:0.7712:0.0	10.708	0.45162	508	0.75398	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.002518	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.011364	0.02632	634.33	44	chr8	99481683	.	A	G	634.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.51;DP=699;ExcessHet=0;FS=1.093;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=-1.768;SOR=0.748	GT:AD:DP:GQ:PL	0/1:26,24:50:99:648,0,756	18	0	1	0
chr8	109412284	109412284	A	C	exonic	PKHD1L1	.	nonsynonymous SNV	PKHD1L1:NM_177531:exon20:c.A2105C:p.Q702P	.	434	1072	2	0	14	16	0.000931966	.	.	.	3547061	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.475	0.0317721617718	0.0020	0.00179712	0.0023	0.0007	0.0012	0.0001	0.0006	0.0019	0	0.0076	0.0021798	337	154602	rs147942629	0.0026	0.0026	0.0023	0.0028	0.0075	0.0025	0.0025	0.0070	0.0069	0.0002	0.0008	0	2.52e-05	0.0006	0.0019	0.0026	0.0020	0.0075	0.0015	0.0015	0.0015	0.0015	0.0072	0.0014	0.0013	0.0054	0.0047	0.0007	0.0044	0.0010	0	0	0.0004	0	0.0021	0.0009	0.0072	0.206	0.19927	T	0.265	0.22694	T	0.318	0.32936	B	0.095	0.30245	B	0.096101	0.20092	N	0.485483	0.855844	0.28429	N	2.38	0.68558	M	-2.07	0.85943	D	-1.7	0.40468	N	0.737	0.73735	-0.3703	0.72952	T	0.470	0.79573	T	10	0.009945482	0.00223	T	0.031772	0.53769	D	0.475	0.76751	.	.	0.233785782151	0.22967	0.8761558476783675	0.87582	0.0604496891235	0.06722	0.490506291389	0.37509	T	0.023788	0.18095	T	-0.149097	0.28453	T	0.018043	0.71504	D	0.0196827363947842	0.00671	T	0.694731	0.30434	T	0.33386075	0.55784	0.3299747	0.58871	0.33386075	0.55785	0.3299747	0.58871	-3.34	0.14259	T	.	.	0.268	0.50185	B	.	.	2.755931	0.36138	20.2	0.97505444314518086	0.34320	0.82882	0.42051	D	AEFDGBCI	0.798638	0.72512	D	0.0655171861048218	0.44859	2.75242	0.185507625330955	0.49053	3.113169	0.999999997763808	0.74766	0.581397	0.33459	0	0.573888	0.26702	0	0.547309	0.15389	0	0.622129	0.49086	0	.	.	4.9	4.9	0.63643	5.009000	0.63753	8.035000	0.76290	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	1.0:0.0:0.0:0.0	11.241	0.48199	688	0.59122	.	.	.	.	.	.	Likely benign	0	0	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	0.000000	0.000000	0.000000	0.017241	0.000000	0.007576	0.02632	1143.33	33	chr8	109412284	.	A	C	1143.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.004;DP=713;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.56;ReadPosRankSum=-0.648;SOR=0.637	GT:AD:DP:GQ:PL	0/1:44,47:91:99:1157,0,1202	18	0	1	0
chr8	120225106	120225106	A	G	exonic	COL14A1	.	nonsynonymous SNV	COL14A1:NM_001384947:exon15:c.A1756G:p.T586A,COL14A1:NM_021110:exon15:c.A1756G:p.T586A	.	7	1506	8	1	0	10	0.00330907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	0.0238921840785	0.0010	0.00139776	0.0010	0.0010	0.0012	0	0	0.0014	0.0011	0.0004	0.0010931	169	154602	rs61753753	0.0016	0.0016	0.0016	0.0016	0.0052	0.0015	0.0015	0.0038	0.0033	0.0002	0.0018	0.0003	0	0	0.0052	0.0018	0.0021	0.0006	0.0014	0.0014	0.0015	0.0013	0.0040	0.0013	0.0012	0.0032	0.0029	0.0003	0	0.0040	0.0006	0	0	0.0034	0.0019	0.0024	0.0006	0.022	0.65419	D	0.009	0.66756	D	0.798	0.44840	P	0.297	0.40924	B	0.000166	0.48594	D	0.183915	0.831299	0.81001	D	2.51	0.73131	M	0.3	0.58755	T	-1.96	0.45404	N	0.391	0.43223	-0.8142	0.54294	T	0.124	0.42778	T	10	0.013065338	0.00278	T	0.023892	0.46868	T	0.152	0.39956	.	.	0.481321013822	0.47762	0.4414098531696501	0.44057	0.235900415689	0.26126	0.431494772434	0.29413	T	0.204756	0.56361	T	-0.33876	0.05474	T	-0.266646	0.48159	T	0.0252870006498489	0.01310	T	0.772923	0.40417	T	0.17824952	0.38835	0.1417397	0.33743	0.17824952	0.38834	0.1417397	0.33742	-5.854	0.45042	T	.	.	0.109	0.23986	B	.;.;.	.;.;.	3.317915	0.45624	22.2	0.99783136117673155	0.86955	0.80146	0.39862	D	AEI	0.385125	0.46599	N	0.19762033458315	0.51084	3.292596	0.264677792517075	0.53489	3.517537	0.00192050852663608	0.09002	0.693126	0.56070	0	0.573888	0.26702	0	0.659464	0.59346	0	0.613276	0.41899	0	.	.	5.39	4.18	0.48473	3.178000	0.50579	6.484000	0.55744	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.447000	0.27828	0.6261:0.0:0.0:0.3739	7.770	0.28169	735	0.53711	.;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	0.002518	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.011364	0.02632	715.33	34	chr8	120225106	.	A	G	715.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.58;DP=673;ExcessHet=0;FS=0.99;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.12;ReadPosRankSum=0.22;SOR=0.897	GT:AD:DP:GQ:PL	0/1:29,30:59:99:729,0,647	18	0	1	0
chr8	132010871	132010871	G	C	exonic	EFR3A	.	nonsynonymous SNV	EFR3A:NM_001323553:exon23:c.G2334C:p.K778N,EFR3A:NM_001323554:exon23:c.G2334C:p.K778N,EFR3A:NM_001323555:exon23:c.G2334C:p.K778N,EFR3A:NM_001323556:exon23:c.G2334C:p.K778N,EFR3A:NM_001323557:exon23:c.G2334C:p.K778N,EFR3A:NM_015137:exon23:c.G2442C:p.K814N,EFR3A:NM_001323558:exon24:c.G2493C:p.K831N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.0112115321271	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.439	0.09291	T	0.331	0.18505	T	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.045609	1	0.81001	D	1.5	0.37844	L	1.39	0.33842	T	-1.42	0.34992	N	0.644	0.66187	-1.0316	0.19937	T	0.165	0.50323	T	10	0.3977828	0.55351	T	0.011212	0.28600	T	0.153	0.40148	0.323	0.30387	0.671013503938	0.66823	0.5213184564664413	0.52054	0.403179438654	0.41262	0.826878428459	0.86083	D	0.01412	0.19191	T	-0.0782944	0.39993	T	-0.350241	0.39179	T	0.901563823223114	0.55432	D	0.946205	0.79443	D	0.38296613	0.59530	0.24603723	0.50104	0.38296613	0.59531	0.24603723	0.50103	-8.505	0.64462	D	.	.	0.885	0.86088	P	.;.;.	.;.;.	4.272375	0.65018	24.8	0.9978335014773505	0.86955	0.98829	0.87402	D	AEFGBI	0.883251	0.81200	D	0.678002983385951	0.78189	6.822127	0.731837545398783	0.84796	8.392965	0.999999999974235	0.74766	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.727631	0.95156	0	.	.	6.02	6.02	0.97559	7.394000	0.79135	4.508000	0.43636	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.525	0.95196	871	0.31377	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.375	899.74	179	chr8	132010871	.	G	C	899.74	.	AC=12;AF=0.375;AN=32;BaseQRankSum=-2.931;DP=2730;ExcessHet=11.1788;FS=198.961;InbreedingCoeff=-0.5515;MLEAC=13;MLEAF=0.406;MQ=60;MQRankSum=0;QD=0.54;ReadPosRankSum=1.12;SOR=12.747	GT:AD:DP:GQ:PL	0/1:102,41:149:25:25,0,1542	4	0	12	3
chr8	132969526	132969526	A	G	exonic	TG	.	nonsynonymous SNV	TG:NM_003235:exon32:c.A5932G:p.I1978V	Thyroid dyshormonogenesis 3, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.0143156337975	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1383182629	4.105e-06	4.104e-06	2.723e-06	5.501e-06	0.0002	1.48e-06	9.7e-07	9.9e-06	3.7e-06	5.977e-05	0	0	0	0	0.0002	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.914	0.02344	T	1.0	0.01155	T	0.026	0.19406	B	0.012	0.16012	B	0.000986	0.40743	D	0.107332	0.93699	0.27233	N	0.935	0.23595	L	0.27	0.63240	T	0.06	0.06488	N	0.064	0.03613	-0.9989	0.30227	T	0.118	0.41473	T	10	0.10460681	0.19293	T	0.014316	0.34357	T	0.118	0.32913	0.207	0.12356	0.622825188919	0.61976	0.16295525352983975	0.16215	0.0597761031305	0.06645	0.307942509651	0.11597	T	0.061127	0.31572	T	-0.304366	0.08253	T	-0.493449	0.23031	T	0.0653362584504946	0.07980	T	0.675932	0.29103	T	0.04939171	0.08763	0.042661738	0.05131	0.04939171	0.08763	0.042661738	0.05131	-3.218	0.12701	T	0.20001635791572925	0.26534	0.081	0.08465	B	.;.	.;.	0.679793	0.10482	7.199	0.46501225941089003	0.03729	0.42003	0.26782	N	AEFDI	0.107638	0.21439	N	-0.404119424296804	0.25324	1.373876	-0.229139505611855	0.30497	1.717629	0.993600218144338	0.33282	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.53	3.18	0.35615	3.962000	0.56473	1.286000	0.25382	0.756000	0.94297	1.000000	0.71638	0.995000	0.32472	0.694000	0.33958	0.7198:0.0:0.2802:0.0	4.911	0.13177	551	0.72115	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.003067	0.000000	0.02632	1159.33	41	chr8	132969526	.	A	G	1159.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.653;DP=730;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.49;ReadPosRankSum=0.501;SOR=0.783	GT:AD:DP:GQ:PL	0/1:34,46:80:99:1173,0,928	18	0	1	0
chr8	143316087	143316087	C	G	exonic	TOP1MT	.	nonsynonymous SNV	TOP1MT:NM_001258447:exon11:c.G1076C:p.R359P,TOP1MT:NM_052963:exon11:c.G1370C:p.R457P,TOP1MT:NM_001258446:exon12:c.G1076C:p.R359P	.	406	1106	10	0	0	10	0.00450045	.	.	.	1611284	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.335	.	0.0004	0.00319489	0.0016	9.615e-05	0.0003	0	0	0.0003	0.0033	0.0102	0.0014489	224	154602	rs150897789	0.0008	0.0008	0.0006	0.0011	0.0099	0.0008	0.0008	0.0093	0.0091	5.974e-05	0.0006	0.0021	2.519e-05	0	0.0021	0.0002	0.0013	0.0099	0.0005	0.0005	0.0004	0.0007	0.0072	0.0004	0.0004	0.0054	0.0047	7.217e-05	0	0.0011	0.0023	0	0	0.0034	0.0002	0.0014	0.0072	0.012	0.55530	D	0.049	0.48336	D	0.889	0.48869	P	0.653	0.52567	P	0.401199	0.13122	U	0.608494	1	0.81001	D	3.385	0.91502	M	0.93	0.44065	T	-6.1	0.89985	D	0.89	0.88909	-0.3712	0.72925	T	0.337	0.70387	T	10	0.017056614	0.00362	T	.	.	.	0.335	0.65718	.	.	0.733702516443	0.73132	0.6778310830040013	0.67722	0.635647164281	0.57374	0.585601270199	0.50876	T	0.483612	0.81126	T	-0.142019	0.29569	T	0.031	0.72337	D	0.130374326807722	0.15416	T	0.985601	0.95079	D	0.8519174	0.87478	0.78569627	0.87379	0.8519174	0.87479	0.78569627	0.87380	-14.942	0.95715	D	.	.	0.822	0.83607	P	.;.;.;.	.;.;.;.	5.975238	0.94234	34	0.99664517897568616	0.78138	0.84933	0.44029	D	AEFDGBI	0.819238	0.74031	D	0.445762233873292	0.63963	4.640596	0.27199433599869	0.53909	3.557864	0.994102339786536	0.33489	0.718356	0.82227	0	0.643519	0.57511	0	0.570548	0.19454	0	0.562822	0.20929	0	.	.	3.23	2.31	0.27816	3.729000	0.54724	.	.	0.542000	0.25261	0.997000	0.40164	0.001000	0.17328	0.995000	0.73285	0.0:0.8141:0.1859:0.0	11.346	0.48798	976	0.04745	DNA topoisomerase I, catalytic core, eukaryotic-type|DNA topoisomerase I, eukaryotic-type|DNA topoisomerase I, catalytic core, eukaryotic-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	0.003021	0.000000	0.000000	0.000000	0.000000	0.000000	0.009146	0.011364	0.02632	2934.33	38	chr8	143316087	.	C	G	2934.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.01;DP=968;ExcessHet=0;FS=2.3;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.04;ReadPosRankSum=0.111;SOR=0.547	GT:AD:DP:GQ:PL	0/1:113,112:225:99:2948,0,2558	18	0	1	0
chr8	143429410	143429410	G	A	exonic	MAFA	.	nonsynonymous SNV	MAFA:NM_201589:exon1:c.C997T:p.R333W	.	404	1116	2	0	0	2	0.000895255	.	.	.	3281315	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.482	0.994467419039	.	.	0.0001	0	0	0	0	0	0	0.0003	3.23e-05	5	154602	rs770823921	4.003e-05	4.036e-05	2.933e-05	5.098e-05	0.0011	3.136e-05	2.809e-05	0.0004	0.0003	0	0	0	0	0	0.0011	3.283e-05	0.0001	7.988e-05	2.633e-05	2.627e-05	5.146e-05	0	5.889e-05	8.15e-06	5.15e-06	1.974e-05	1.126e-05	0	0	0	0	0	0	0	5.889e-05	0	0	0.015	0.52492	D	0.018	0.59732	D	0.999	0.77913	D	0.825	0.59331	P	.	.	.	.	0.527121	0.31521	N	0	0.06538	N	-4.94	0.98409	D	-2.56	0.55339	D	0.286	0.32370	0.710	0.93302	D	0.852	0.95053	D	9	0.45649248	0.59021	T	0.994467	0.99985	D	0.482	0.77206	.	.	0.792822855232	0.79089	0.4822512573161031	0.48145	.	.	0.916947484016	0.98082	D	0.306053	0.67827	T	-0.0481139	0.44733	T	-0.0472096	0.67214	D	0.373582102864768	0.27935	T	0.713029	0.32487	T	0.16661957	0.37008	0.19953299	0.43840	0.16661957	0.37007	0.19953299	0.43839	-7.653	0.58680	D	0.1638739782874688	0.20218	0.577	0.67923	P	.	.	4.707551	0.75589	26.4	0.99843877135608605	0.92403	0.65849	0.32876	D	AEFDBHCI	0.246100	0.36691	N	-0.00415842696732402	0.41667	2.496389	-0.029296006734764	0.38397	2.261673	0.999959592732246	0.48110	0.59774	0.34471	0	0.596491	0.49125	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	2.95	1.85	0.24418	0.686000	0.25072	.	.	0.482000	0.22156	0.667000	0.28322	1.000000	0.68203	0.984000	0.60418	0.0:0.1638:0.5782:0.258	5.726	0.17282	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	883.33	35	chr8	143429410	.	G	A	883.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.97;DP=691;ExcessHet=0;FS=12.076;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.48;ReadPosRankSum=-0.397;SOR=2.152	GT:AD:DP:GQ:PL	0/1:30,31:61:99:897,0,725	18	0	1	0
chr8	143589199	143589199	C	T	exonic	EEF1D	.	nonsynonymous SNV	EEF1D:NM_001130053:exon3:c.G883A:p.D295N,EEF1D:NM_032378:exon3:c.G883A:p.D295N	.	421	1093	8	0	0	8	0.00364631	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.022614074717	0.0002	0.00159744	0.0013	0	0	0	0.0014	9.893e-05	0	0.0082	0.0008279	128	154602	rs138059210	0.0005	0.0005	0.0003	0.0006	0.0054	0.0004	0.0004	0.0050	0.0048	9.069e-05	0.0001	0.0019	5.117e-05	0.0009	0.0012	6.551e-05	0.0005	0.0054	0.0004	0.0004	0.0002	0.0006	0.0041	0.0003	0.0003	0.0027	0.0023	0	0	0.0005	0.0026	0	0.0014	0	5.881e-05	0.0019	0.0041	0.288	0.25255	T	0.945	0.06812	T	0.001	0.13644	B	0.002	0.06944	B	0.151119	0.17965	N	0.451395	0.852102	0.35240	D	.	.	.	.	.	.	-0.23	0.27052	N	0.256	0.28965	-0.9683	0.37551	T	0.128	0.43524	T	9	0.004842669	0.00103	T	0.022614	0.45526	T	0.022	0.04323	.	.	0.319402600006	0.31557	0.24239951131556262	0.24153	0.119526378523	0.13456	0.606565833092	0.53831	T	0.008644	0.07927	T	-0.57804	0.00198	T	-0.600756	0.12748	T	0.0112209062801464	0.00165	T	0.747925	0.36851	T	.	.	.	.	.	.	.	.	-4.609	0.32285	T	.	.	0.092	0.18497	B	.;.;.;.;.	.;.;.;.;.	0.929945	0.13050	9.555	0.97342527353438613	0.33481	0.25651	0.22762	N	AEFDBCI	0.087767	0.17795	N	-1.00398900812372	0.08520	0.3998209	-1.02301737752434	0.09279	0.4607924	0.999805249155404	0.43304	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	4.5	2.68	0.30839	1.583000	0.36188	.	.	-0.171000	0.11205	0.035000	0.20724	0.000000	0.08366	0.002000	0.04165	0.0:0.7085:0.0:0.2915	6.879	0.23344	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	0.001012	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1630.33	56	chr8	143589199	.	C	T	1630.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.08;DP=1608;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.87;ReadPosRankSum=0.129;SOR=0.668	GT:AD:DP:GQ:PL	0/1:85,65:150:99:1644,0,2077	18	0	1	0
chr8	143650149	143650149	A	G	exonic	ZNF623	.	nonsynonymous SNV	ZNF623:NM_014789:exon1:c.A277G:p.T93A,ZNF623:NM_001082480:exon2:c.A157G:p.T53A,ZNF623:NM_001261843:exon2:c.A157G:p.T53A	.	414	1089	18	1	0	20	0.00909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.0057502112798	0.0020	0.00159744	0.0036	0.0005	0.0012	0	0.0062	0.0039	0.0011	0.0067	0.0034928	540	154602	rs141901810	0.0048	0.0048	0.0047	0.0049	0.0092	0.0047	0.0047	0.0072	0.0070	0.0006	0.0017	0.0002	2.519e-05	0.0044	0.0092	0.0051	0.0042	0.0077	0.0028	0.0028	0.0028	0.0028	0.0043	0.0026	0.0025	0.0039	0.0038	0.0005	0.0011	0.0024	0.0003	0	0.0046	0	0.0043	0.0019	0.0043	0.062	0.37966	T	0.026	0.57587	D	.	.	.	.	.	.	.	.	.	.	0.994708	0.23461	N	.	.	.	2.47	0.14783	T	-0.44	0.15178	N	0.044	0.02559	-0.9976	0.30590	T	0.032	0.13592	T	9	0.003913492	0.00075	T	0.00575	0.14922	T	0.080	0.23350	.	.	0.332646915603	0.32870	0.048393935203371874	0.04782	0.274352490652	0.29928	0.275649279356	0.06894	T	0.009832	0.08919	T	-0.687114	0.00044	T	-0.755623	0.03272	T	0.00154676861957796	0.00016	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.04041	B	.;.;.	.;.;.	0.394799	0.07661	4.332	0.94362907156118903	0.24721	0.03267	0.08303	N	AEFBCI	0.117611	0.23033	N	-0.770492492523635	0.14084	0.698707	-0.804064001623287	0.14397	0.7520479	0.0636998290362513	0.15304	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.636168	0.56350	0	.	.	4.35	-1.26	0.08892	0.167000	0.16419	.	.	0.756000	0.94297	0.000000	0.06391	0.001000	0.17328	0.452000	0.27939	0.6286:0.1525:0.2189:0.0	5.246	0.14813	936	0.14734	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007553	0.000000	0.002717	0.002924	0.000000	0.000000	0.021341	0.015152	0.02632	1752.33	35	chr8	143650149	.	A	G	1752.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.956;DP=1284;ExcessHet=0;FS=6.478;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.58;ReadPosRankSum=-0.572;SOR=1.139	GT:AD:DP:GQ:PL	0/1:113,70:183:99:1766,0,3110	18	0	1	0
chr8	143719060	143719060	T	A	exonic	MAPK15	.	nonsynonymous SNV	MAPK15:NM_139021:exon6:c.T485A:p.L162Q	.	386	1134	1	1	0	3	0.001321	.	.	.	3285092	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.443	0.202821446909	0.0006	0.000399361	0.0009	0	0	0	0.0022	0.0014	0.0024	0	0.0005692	88	154602	rs139710965	0.0008	0.0008	0.0008	0.0008	0.0009	0.0008	0.0007	0.0008	0.0008	0.0002	0.0002	3.896e-05	0	0.0026	0.0002	0.0009	0.0010	7.228e-05	0.0008	0.0008	0.0007	0.0008	0.0010	0.0006	0.0006	0.0008	0.0007	0.0002	0	0.0006	0	0	0.0029	0	0.0010	0	0.0002	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.992	0.80445	D	0.000045	0.53742	D	0.074127	0.999706	0.48408	D	2.045	0.56016	M	-0.34	0.68474	T	-4.74	0.83899	D	0.879	0.87699	-0.4209	0.71363	T	0.319	0.68839	T	10	0.15338698	0.28953	T	0.202821	0.86841	D	0.443	0.74588	.	.	0.811717376858	0.80994	0.7520554164053728	0.75152	0.175063454063	0.19705	0.615236878395	0.55055	T	0.105296	0.41564	T	-0.0918774	0.37764	T	0.0389002	0.72856	D	0.112745188176632	0.13706	T	0.970703	0.89491	D	0.36261567	0.58035	0.4587316	0.68553	0.36261567	0.58035	0.4587316	0.68553	-11.37	0.81648	D	.	.	0.146	0.47492	B	.;.;.	.;.;.	4.518107	0.70818	25.6	0.99450084868719602	0.65223	0.82134	0.41409	D	AEFDGBHCI	0.657170	0.62889	D	0.170687318376014	0.49794	3.176017	0.0644050738331425	0.42774	2.593119	1.0	0.98316	0.650006	0.45971	0	0.578056	0.33634	0	0.606735	0.37207	0	0.562822	0.20929	0	.	.	4.02	4.02	0.45968	2.924000	0.48572	.	.	0.585000	0.30472	0.377000	0.25981	1.000000	0.68203	0.153000	0.20410	0.0:0.0:0.0:1.0	10.422	0.43540	895	0.25842	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	0.000504	0.000000	0.001362	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1765.33	71	chr8	143719060	.	T	A	1765.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.474;DP=1027;ExcessHet=0;FS=7.463;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.49;ReadPosRankSum=-0.006;SOR=0.302	GT:AD:DP:GQ:PL	0/1:46,68:114:99:1779,0,1173	18	0	1	0
chr8	143865287	143865287	G	A	exonic	EPPK1	.	nonsynonymous SNV	EPPK1:NM_031308:exon2:c.C7967T:p.P2656L	.	465	1053	4	0	0	4	0.00189573	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1181720222	0.0001	0.0002	7.947e-05	0.0001	0.0023	8.278e-05	7.194e-05	0.0015	0.0013	0	0.0001	0	0	0	0	4.818e-05	0	0.0023	0.0001	0.0001	3.772e-05	0.0002	0.0011	6.743e-05	5.226e-05	0.0004	0.0002	0.0002	0	0	0	0.0004	0.0002	0	1.872e-05	0.0007	0.0011	.	.	.	0.181	0.29346	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	0.07949	.	.	.	.	.	.	.	0.030941844	0.01224	T	.	.	.	.	.	.	.	.	.	0.11839393492795118	0.11766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.857914	0.54791	D	.	.	.	.	.	.	.	.	-8.667	0.65530	D	.	.	0.128	0.27343	B	.;.	.;.	-0.293692	0.02646	0.335	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-9.712000	0.00013	.	.	-0.690000	0.04136	0.000000	0.06391	0.000000	0.08366	0.529000	0.29684	.	.	.	964	0.07719	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	149.61	9	chr8	143865287	.	G	A	149.61	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.541;DP=245;ExcessHet=0;FS=0;InbreedingCoeff=-0.0443;MLEAC=1;MLEAF=0.026;MQ=41.26;MQRankSum=1.78;QD=5.98;ReadPosRankSum=0.426;SOR=0.892	GT:AD:DP:GQ:PL	0/1:16,9:25:99:163,0,323	18	0	1	0
chr8	144360369	144360369	G	C	exonic	SLC52A2	.	nonsynonymous SNV	SLC52A2:NM_001253815:exon3:c.G877C:p.V293L,SLC52A2:NM_001253816:exon3:c.G877C:p.V293L,SLC52A2:NM_001363118:exon3:c.G877C:p.V293L,SLC52A2:NM_001363120:exon3:c.G877C:p.V293L,SLC52A2:NM_001363121:exon3:c.G877C:p.V293L,SLC52A2:NM_001363122:exon3:c.G385C:p.V129L,SLC52A2:NM_024531:exon3:c.G877C:p.V293L	Brown-Vialetto-Van Laere syndrome 2, Autosomal recessive	3	1518	1	0	0	1	0.000329272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.233	0.121101585875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.868e-07	6.84e-07	1.367e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	0.42199	T	0.024	0.56640	D	0.708	0.42036	P	0.417	0.44992	B	0.000024	0.55875	D	0.069759	0.999782	0.81001	D	2.35	0.67516	M	-0.73	0.73100	T	-1.85	0.44471	N	0.335	0.37613	-0.6296	0.63588	T	0.284	0.65635	T	10	0.57824004	0.65702	D	0.121102	0.80179	D	0.233	0.53499	0.626	0.76141	0.557713733399	0.55431	0.6373272206832785	0.63666	0.48504829238	0.47404	0.646400094032	0.59475	T	0.320328	0.69153	T	-0.0196317	0.48906	T	-0.265976	0.48226	T	0.578073620796204	0.35545	D	.	.	.	0.09969778	0.23533	0.16438422	0.38083	0.09969778	0.23532	0.16438422	0.38082	-8.704	0.65772	D	.	.	0.172	0.37839	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.357108	0.30230	18.37	0.97698780649262873	0.35424	0.94880	0.62650	D	AEFDGBI	0.604650	0.59566	D	-0.0571480453417731	0.39282	2.314102	-0.116612179414325	0.34719	2.000386	0.999997796220713	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	4.87	4.0	0.45673	3.540000	0.53366	6.637000	0.56171	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.062000	0.16114	0.197:0.0:0.803:0.0	7.432	0.26305	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	.	.	.	.	.	.	.	.	0.02632	1543.33	34	chr8	144360369	.	G	C	1543.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.46;DP=805;ExcessHet=0;FS=2.181;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.27;ReadPosRankSum=-1.118;SOR=0.911	GT:AD:DP:GQ:PL	0/1:76,61:137:99:1557,0,1806	18	0	1	0
chr8	144510871	144510871	C	T	exonic	MFSD3	.	nonsynonymous SNV	MFSD3:NM_138431:exon4:c.C1033T:p.R345C	.	410	1107	4	1	0	6	0.0027027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	.	0.0053	0.0061901	0.0016	0.0132	0.0016	0	0	0.0006	0.0023	6.061e-05	0.0016235	251	154602	rs73377627	0.0009	0.0009	0.0010	0.0009	0.0139	0.0009	0.0009	0.0128	0.0124	0.0139	0.0026	7.652e-05	2.519e-05	6.23e-05	0.0035	0.0005	0.0021	0.0002	0.0051	0.0051	0.0053	0.0048	0.0144	0.0048	0.0047	0.0134	0.0131	0.0144	0	0.0067	0	0	0.0002	0.0170	0.0008	0.0076	0.0002	0.019	0.50132	D	0.029	0.54541	D	0.015	0.17086	B	0.006	0.12133	B	0.017474	0.27716	N	0.411868	0.821641	0.34785	D	1.155	0.29575	L	0.44	0.56609	T	-2.33	0.51646	N	0.307	0.34659	-1.0046	0.28577	T	0.080	0.31556	T	10	0.010274202	0.00229	T	.	.	.	0.050	0.13987	.	.	0.523961927912	0.52041	0.34254849187480046	0.34167	0.0293363876473	0.03019	0.259048759937	0.04779	T	0.287443	0.66024	T	-0.489476	0.00654	T	-0.464844	0.26074	T	0.0266240648645669	0.01491	T	0.812119	0.46368	T	0.24479432	0.47432	0.22206111	0.47037	0.24479432	0.47432	0.22206111	0.47036	-5.198	0.38921	T	.	.	0.185	0.39965	B	.	.	3.081184	0.41449	21.4	0.98076232480401482	0.38070	0.89830	0.50552	D	AEFGBHCI	0.458428	0.50945	N	-0.35824421981409	0.26971	1.476115	-0.249334711188377	0.29795	1.672183	0.999999184772539	0.74766	0.722319	0.85440	0	0.685571	0.66316	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.25	2.47	0.29113	1.831000	0.38781	1.132000	0.24334	0.599000	0.40250	1.000000	0.71638	0.568000	0.25556	0.989000	0.64315	0.1672:0.5702:0.0:0.2626	3.956	0.08887	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	0.006552	0.015152	0.006812	0.002924	0.000000	0.000000	0.003049	0.000000	0.02632	1830.33	37	chr8	144510871	.	C	T	1830.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.15;DP=794;ExcessHet=0;FS=2.968;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.07;ReadPosRankSum=-0.523;SOR=0.659	GT:AD:DP:GQ:PL	0/1:69,71:140:99:1844,0,1550	18	0	1	0
chr9	2639898	2639898	A	G	exonic	VLDLR	.	nonsynonymous SNV	VLDLR:NM_001018056:exon3:c.A242G:p.N81S,VLDLR:NM_001322225:exon3:c.A242G:p.N81S,VLDLR:NM_001322226:exon3:c.A242G:p.N81S,VLDLR:NM_003383:exon3:c.A242G:p.N81S	Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, Autosomal recessive	0	1503	19	0	0	19	0.00628099	.	.	.	425841	not_provided|not_specified|Cerebellar_ataxia,_intellectual_disability,_and_dysequilibrium_syndrome_1	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0024542,MedGen:C4551552,OMIM:224050,Orphanet:1766	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.428	0.0153376932889	0.0015	0.00239617	0.0020	0.0002	0.0010	0.0001	0	0.0016	0.0055	0.0071	0.0018823	291	154602	rs140526335	0.0018	0.0018	0.0016	0.0019	0.0072	0.0017	0.0017	0.0067	0.0066	0.0003	0.0013	0.0016	7.557e-05	0.0001	0.0062	0.0015	0.0023	0.0072	0.0013	0.0013	0.0012	0.0014	0.0075	0.0012	0.0011	0.0055	0.0049	0.0006	0	0.0014	0.0012	0	9.429e-05	0	0.0017	0.0014	0.0075	0.153	0.25255	T	0.142	0.33330	T	0.024	0.20614	B	0.034	0.22546	B	0.000024	0.55875	D	0.000000	0.999878	0.81001	D	0.39	0.12200	N	-3.79	0.95663	D	-2.86	0.65171	D	0.19	0.25130	0.252	0.86785	D	0.727	0.90669	D	10	0.010469168	0.00233	T	0.015338	0.36015	T	0.428	0.73517	.	.	0.776578565586	0.77452	0.44845219494177235	0.44763	0.0983170490784	0.11101	0.365291237831	0.20153	T	0.471293	0.81675	T	-0.338618	0.05485	T	-0.255313	0.49289	T	0.0443868002262097	0.04490	T	0.915608	0.69895	D	0.052636717	0.09847	0.081603274	0.18558	0.04889718	0.08596	0.07262831	0.15692	-2.219	0.04394	T	.	.	0.072	0.22464	B	.;.;.	.;.;.	3.304682	0.45380	22.1	0.99234005145777393	0.56310	0.88098	0.47879	D	AEFDGBCI	0.511179	0.53992	D	0.00406014141867189	0.42039	2.525572	0.215436882139292	0.50704	3.259653	0.999997596077997	0.74766	0.732398	0.92422	0	0.633656	0.55848	0	0.743671	0.96076	0	0.620846	0.47308	0	.	.	5.92	5.92	0.95557	4.492000	0.60054	7.124000	0.57604	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.9222:0.0:0.0778:0.0	10.959	0.46587	789	0.46346	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	0.009567	0.010101	0.013587	0.011696	0.000000	0.000000	0.000000	0.007576	0.02632	2245.33	34	chr9	2639898	.	A	G	2245.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.231;DP=828;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.69;ReadPosRankSum=-0.413;SOR=0.717	GT:AD:DP:GQ:PL	0/1:100,92:192:99:2259,0,2714	18	0	1	0
chr9	5921944	5921944	G	A	exonic	KIAA2026	.	nonsynonymous SNV	KIAA2026:NM_001017969:exon8:c.C4052T:p.T1351I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.00332730210017	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1480019156	7.526e-06	8.209e-06	9.53e-06	5.501e-06	9.894e-06	4.04e-06	2.95e-06	5.31e-06	3.88e-06	0	0	0	0	0	0	9.894e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.267	0.23845	T	0.571	0.38591	P	0.225	0.38015	B	0.075435	0.21224	N	0.376757	0.994993	0.23396	N	1.67	0.42885	L	.	.	.	-1.02	0.26843	N	0.097	0.10483	-0.9709	0.37009	T	0.083	0.32585	T	9	0.1434603	0.27237	T	0.003327	0.07421	T	0.063	0.18251	0.197	0.10975	0.255270683199	0.25152	0.10049207211185672	0.09980	.	.	0.321954548359	0.13718	T	0.00681	0.06237	T	-0.182022	0.23436	T	-0.499238	0.22427	T	0.386143445968628	0.28418	T	0.767723	0.39623	T	0.18296212	0.39540	0.15345758	0.36059	0.18296212	0.39540	0.15345758	0.36059	-4.123	0.26185	T	.	.	0.087	0.21503	B	.;.	.;.	2.117808	0.26958	17.30	0.99578408659811013	0.72861	0.96691	0.70426	D	AEFDGBI	.	.	.	-0.0352007114126356	0.40265	2.388334	0.0253390918989087	0.40896	2.447975	0.999999997524792	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	4.38	4.38	0.52019	2.206000	0.42416	.	.	0.676000	0.76740	0.641000	0.28093	1.000000	0.68203	0.013000	0.09966	0.0:0.0:1.0:0.0	17.110	0.86548	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	.	.	.	.	.	.	.	.	0.02632	2395.33	44	chr9	5921944	.	G	A	2395.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.466;DP=1154;ExcessHet=0;FS=1.206;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.26;ReadPosRankSum=1.33;SOR=0.843	GT:AD:DP:GQ:PL	0/1:84,84:168:99:2409,0,2345	18	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	0.05263	1963.83	33	chr9	15874587	.	T	G	1963.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.515;DP=843;ExcessHet=0.119;FS=0.477;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=7.95;ReadPosRankSum=-0.671;SOR=0.723	GT:AD:DP:GQ:PL	0/1:65,41:106:99:878,0,1815	17	0	2	0
chr9	21010730	21010730	T	C	exonic	HACD4	.	nonsynonymous SNV	HACD4:NM_001321903:exon7:c.A638G:p.H213R	.	971	549	2	0	0	2	0.00181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs775635484	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0002	0.0003	0.0001	0.0004	0.0002	0.0001	0.0003	0.0003	4.813e-05	0	0	0	0	9.427e-05	0	0.0004	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	.	.	.	.	.	.	.	.	0.02632	404.33	23	chr9	21010730	.	T	C	404.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.524;DP=477;ExcessHet=0;FS=0;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.64;ReadPosRankSum=1.17;SOR=0.693	GT:AD:DP:GQ:PL	0/1:16,16:32:99:418,0,397	18	0	1	0
chr9	35045031	35045031	G	A	exonic	C9orf131	.	nonsynonymous SNV	C9orf131:NM_001040410:exon2:c.G2297A:p.R766K,C9orf131:NM_001040411:exon2:c.G2183A:p.R728K,C9orf131:NM_001287391:exon2:c.G2183A:p.R728K,C9orf131:NM_203299:exon2:c.G2402A:p.R801K,C9orf131:NM_001040412:exon3:c.G2258A:p.R753K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00415734143101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	0.13971	T	0.678	0.07816	T	0.172	0.28767	B	0.071	0.27960	B	0.082616	0.20799	N	0.358348	1	0.08975	N	1.1	0.28011	L	2.56	0.13673	T	-0.73	0.20576	N	0.075	0.06059	-1.0565	0.12646	T	0.029	0.12629	T	10	0.06797993	0.09549	T	0.004157	0.09995	T	0.022	0.04323	0.123	0.02942	0.0138822411134	0.00435	0.10952956135702308	0.10881	0.0883708896592	0.09985	.	.	.	0.006159	0.05598	T	-0.36267	0.03981	T	-0.758727	0.03158	T	0.220206218150175	0.21474	T	0.577942	0.20808	T	0.05830869	0.11715	0.044341143	0.05722	0.05830869	0.11715	0.044341143	0.05721	-3.437	0.16812	T	.	.	0.130	0.28086	B	.;.;.	.;.;.	1.784352	0.22686	15.72	0.81304352369040345	0.13619	0.01758	0.05530	N	AEFBI	.	.	.	-0.71241810791662	0.15672	0.7918777	-0.794773957796162	0.14623	0.7650192	0.992755160714345	0.32956	0.554377	0.28877	0	0.514364	0.08380	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	3.99	1.93	0.24985	0.101000	0.15088	1.904000	0.29601	0.676000	0.76740	0.016000	0.19238	0.874000	0.27626	0.039000	0.14166	0.1333:0.2365:0.6301:0.0	4.390	0.10765	105	0.95676	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2477.33	46	chr9	35045031	.	G	A	2477.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.78;DP=924;ExcessHet=0;FS=2.678;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.4;ReadPosRankSum=-0.328;SOR=0.949	GT:AD:DP:GQ:PL	0/1:86,86:172:99:2491,0,2379	18	0	1	0
chr9	35045618	35045618	C	G	exonic	C9orf131	.	nonsynonymous SNV	C9orf131:NM_001040410:exon2:c.C2884G:p.Q962E,C9orf131:NM_001040411:exon2:c.C2770G:p.Q924E,C9orf131:NM_001287391:exon2:c.C2770G:p.Q924E,C9orf131:NM_203299:exon2:c.C2989G:p.Q997E,C9orf131:NM_001040412:exon3:c.C2845G:p.Q949E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.00363671136361	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.399	0.15059	T	0.562	0.38380	P	0.275	0.40079	B	0.036403	0.24525	N	0.297068	1	0.08975	N	2.485	0.72352	M	2.26	0.17761	T	-1.38	0.34198	N	0.167	0.25499	-1.0533	0.13493	T	0.034	0.14769	T	10	0.11531788	0.21721	T	0.003637	0.08371	T	0.081	0.23632	0.09	0.01023	0.0138822411134	0.00435	0.05682822559697641	0.05623	0.0157027306126	0.01500	.	.	.	0.016213	0.13446	T	-0.219734	0.18030	T	-0.553409	0.17001	T	0.495439022779465	0.32463	T	0.747925	0.36851	T	0.101230375	0.23911	0.10866739	0.26178	0.101230375	0.23910	0.10866739	0.26177	-4.279	0.27881	T	.	.	0.113	0.22464	B	.;.;.	.;.;.	1.958087	0.24871	16.56	0.98032097371727411	0.37720	0.08423	0.14354	N	AEFGBI	.	.	.	-0.641952686554203	0.17695	0.9127295	-0.700799084341228	0.16940	0.8985299	0.958797282093481	0.28385	0.498214	0.20090	0	0.514364	0.08380	0	0.536957	0.11973	0	0.711	0.71501	0	.	.	4.72	2.77	0.31614	0.315000	0.19200	1.337000	0.25710	-0.180000	0.10397	0.035000	0.20724	0.005000	0.19230	0.025000	0.12405	0.3641:0.6359:0.0:0.0	9.995	0.41065	104	0.95701	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1661.33	46	chr9	35045618	.	C	G	1661.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.927;DP=854;ExcessHet=0;FS=13.838;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.95;ReadPosRankSum=-1.059;SOR=1.276	GT:AD:DP:GQ:PL	0/1:79,60:139:99:1675,0,2208	18	0	1	0
chr9	35616087	35616087	C	T	exonic	CD72	.	nonsynonymous SNV	CD72:NM_001782:exon5:c.G544A:p.E182K	.	.	.	.	.	.	.	.	.	.	.	2760883	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.042	0.00642411812595	7.7e-05	.	0.0002	0.0003	8.637e-05	0	0	0.0002	0	0	0.0001488	23	154602	rs372589518	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0002	2.236e-05	0.0001	0	0	0.0003	0.0003	0.0002	4.637e-05	0.0002	0.0002	0.0002	0.0001	0.0002	0.0001	9.24e-05	0.0001	7.893e-05	0.0001	0.0055	6.545e-05	0	0	0	0	0.0002	0.0005	0	0.409	0.10180	T	0.739	0.07617	T	0.039	0.21116	B	0.009	0.14300	B	0.090940	0.02454	N	1.957170	1	0.08975	N	1.1	0.28011	L	1.0	0.41392	T	-0.78	0.21644	N	0.075	0.04913	-1.0660	0.10316	T	0.063	0.26029	T	10	0.012734413	0.00272	T	0.006424	0.16899	T	0.042	0.11227	.	.	0.377493895363	0.37364	0.15536515509090493	0.15457	0.253657355234	0.27937	0.213398188353	0.00964	T	0.089802	0.38449	T	-0.543904	0.00317	T	-0.72557	0.04531	T	0.0111159104853868	0.00162	T	0.710429	0.32156	T	0.03970712	0.05534	0.04000344	0.04223	0.03970712	0.05533	0.04000344	0.04223	-5.543	0.42269	T	.	.	0.074	0.04975	B	.;.;.	.;.;.	-0.197617	0.03103	0.491	0.77895295144036558	0.12068	0.00572	0.02591	N	AEFDBI	0.060244	0.11435	N	-1.59020268392474	0.01314	0.0572282	-1.70284184328323	0.01125	0.05057276	0.999999999897779	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.619478	0.44681	0	0.663205	0.64265	0	.	.	5.14	-9.81	0.00405	-1.255000	0.02981	-0.459000	0.09050	-0.257000	0.07002	0.000000	0.06391	0.000000	0.08366	0.019000	0.11356	0.0:0.1235:0.6498:0.2268	13.287	0.59681	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	.	.	.	.	.	.	.	.	0.02632	2164.33	38	chr9	35616087	.	C	T	2164.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.74;DP=801;ExcessHet=0;FS=3.654;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.28;ReadPosRankSum=0.869;SOR=0.975	GT:AD:DP:GQ:PL	0/1:79,84:163:99:2178,0,1859	18	0	1	0
chr9	35906586	35906586	-	CCACCACCACCACCACCACCCCCACCACACCCCTCACCACCTCCACCA	exonic	HRCT1	.	nonframeshift insertion	HRCT1:NM_001039792:exon1:c.299_300insCCACCACCACCACCACCACCCCCACCACACCCCTCACCACCTCCACCA:p.H105_P106insHPHHTPHHLHHHHHHH	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.536e-06	1.062e-05	3.531e-06	3.542e-06	4.657e-06	8.3e-07	5.6e-07	1.09e-06	7.4e-07	0	0	0	0	0	0	4.657e-06	0	0	0	1.195e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	5546.49	51	chr9	35906586	.	T	TCCACCACCACCACCACCACCCCCACCACACCCCTCACCACCTCCACCA	5546.49	.	AC=1;AF=0.028;AN=36;BaseQRankSum=0.915;DP=857;ExcessHet=1.1637;FS=1.684;InbreedingCoeff=-0.037;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=24.76;ReadPosRankSum=1.23;SOR=0.827	GT:AD:DP:GQ:PL	0/1:3,2:5:72:72,0,552	17	0	1	1
chr9	35906599	35906604	CCACCC	-	exonic	HRCT1	.	nonframeshift deletion	HRCT1:NM_001039792:exon1:c.312_317del:p.P106_H107del	.	851	653	3	0	15	18	0.00229183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0029	0	0.0004	0	0.0034	0.0045	0	0.0010	0.0014295	221	154602	rs764113748	8.68e-05	0.0001	6.829e-05	0.0001	0.0001	7.286e-05	6.694e-05	8.473e-05	7.801e-05	0	0	0	0	3.939e-05	0	0.0001	8.544e-05	4.353e-05	3.016e-05	2.26e-05	5.686e-05	0	6.225e-05	5e-06	1.87e-06	1.031e-05	3.86e-06	0	0	0	0	0	0	0	6.225e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05882	962.38	40	chr9	35906598	.	ACCACCC	A	962.38	.	AC=2;AF=0.059;AN=34;BaseQRankSum=-0.672;DP=710;ExcessHet=1.3;FS=0;InbreedingCoeff=-0.1878;MLEAC=2;MLEAF=0.059;MQ=60;MQRankSum=0;QD=6.59;ReadPosRankSum=-0.48;SOR=0.683	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:17,2:19:34:0|1:35906598_ACCACCC_A:34,0,644:35906598	15	0	2	2
chr9	35906603	35906603	C	0	exonic	HRCT1	.	.	.	.	865	603	28	6	20	60	0.0321027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	66.24	43	chr9	35906603	.	C	*	66.24	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.057;DP=690;ExcessHet=0.7564;FS=1.192;InbreedingCoeff=-0.1203;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=0.62;ReadPosRankSum=1.58;SOR=0.438	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:16,2:18:33:1|0:35906598_ACCACCC_A:33,0,645:35906598	17	0	2	0
chr9	35906604	35906604	C	0	exonic	HRCT1	.	.	.	.	919	482	25	5	91	126	0.035035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	1788.73	15	chr9	35906604	.	C	*	1788.73	.	AC=2;AF=0.063;AN=32;BaseQRankSum=-0.516;DP=676;ExcessHet=0.1504;FS=0;InbreedingCoeff=0.0853;MLEAC=2;MLEAF=0.063;MQ=60;MQRankSum=0;QD=22.36;ReadPosRankSum=-0.568;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:5,2:7:36:.:.:36,0,603:.	14	0	2	3
chr9	36599459	36599459	A	G	exonic	MELK	.	nonsynonymous SNV	MELK:NM_001256692:exon4:c.A147G:p.I49M,MELK:NM_001256688:exon5:c.A327G:p.I109M,MELK:NM_001256690:exon5:c.A327G:p.I109M,MELK:NM_001256691:exon5:c.A300G:p.I100M,MELK:NM_001256687:exon6:c.A396G:p.I132M,MELK:NM_001256689:exon6:c.A444G:p.I148M,MELK:NM_001256685:exon7:c.A540G:p.I180M,MELK:NM_014791:exon7:c.A540G:p.I180M	.	.	.	.	.	.	.	.	.	.	.	3985800	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.519	0.0625716275387	.	.	2.474e-05	0	0	0	0	4.501e-05	0	0	1.94e-05	3	154602	rs771092591	1.095e-05	1.163e-05	9.538e-06	1.239e-05	0.0002	6.49e-06	5.25e-06	6.53e-06	5.03e-06	0	2.237e-05	0	0	0	0.0002	1.17e-05	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	0.001	0.78490	D	0.002	0.79402	D	0.998	0.73220	D	0.967	0.71530	D	0.000000	0.84330	D	0.041560	0.999998	0.81001	D	1.83	0.48079	L	-0.39	0.69158	T	-2.85	0.60507	D	0.791	0.79310	-0.4537	0.70278	T	0.343	0.70875	T	10	0.72056746	0.73634	D	0.062572	0.68695	D	0.519	0.79522	0.706	0.84236	0.78569462016	0.78371	0.58921557791537	0.58851	0.509634769569	0.49093	0.795681238174	0.81306	T	0.12897	0.45696	T	0.0859028	0.62725	D	-0.0507371	0.66971	D	0.906372308731079	0.56037	D	0.956404	0.84742	D	0.8909978	0.90592	0.75544286	0.85547	0.8909978	0.90594	0.75544286	0.85548	-12.263	0.88150	D	.	.	0.431	0.62018	A	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.014951	0.59257	24.1	0.99646758996255524	0.77005	0.79682	0.39532	D	AEFBI	0.219844	0.34467	N	0.368019952140907	0.59699	4.151337	0.329638466430652	0.57288	3.894024	0.826310770581613	0.24613	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.54	2.82	0.32061	0.667000	0.24794	5.827000	0.50131	0.739000	0.86063	0.999000	0.42656	1.000000	0.68203	0.997000	0.79791	0.3414:0.2253:0.0:0.4333	5.406	0.15622	579	0.69780	Protein kinase domain|Protein kinase domain|Protein kinase domain|Maternal embryonic leucine zipper kinase, catalytic 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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	526.33	43	chr9	36599459	.	A	G	526.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.666;DP=740;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.77;ReadPosRankSum=2.63;SOR=0.784	GT:AD:DP:GQ:PL	0/1:37,23:60:99:540,0,970	18	0	1	0
chr9	37430637	37430659	ACATCAGCAGGTATCCTAGGGCC	-	exonic	GRHPR	.	frameshift deletion	GRHPR:NM_012203:exon7:c.725_734del:p.N242Rfs*5	Hyperoxaluria, primary, type II, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1922.29	33	chr9	37430636	.	AACATCAGCAGGTATCCTAGGGCC	A	1922.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.65;DP=785;ExcessHet=0;FS=9.097;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.82;ReadPosRankSum=1.4;SOR=1.369	GT:AD:DP:GQ:PL	0/1:97,53:150:99:1936,0,3869	18	0	1	0
chr9	39361079	39361079	C	A	exonic	SPATA31A1	.	nonsynonymous SNV	SPATA31A1:NM_001085452:exon4:c.C3314A:p.P1105H	.	489	1016	9	3	5	20	0.0073278	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00158882339477	.	.	0.0013	0	0.0004	0	0.0002	0.0015	0.0034	0.0032	0.0010802	167	154602	rs200116475	0.0010	0.0010	0.0008	0.0011	0.0053	0.0009	0.0009	0.0036	0.0034	0.0002	0.0009	0.0053	0	0.0002	0.0053	0.0007	0.0012	0.0039	0.0007	0.0007	0.0007	0.0007	0.0027	0.0006	0.0006	0.0016	0.0013	7.3e-05	0	0.0016	0.0049	0	0.0002	0	0.0007	0.0005	0.0027	.	.	.	0.024	0.56640	D	.	.	.	.	.	.	0.282808	0.03845	N	1.572250	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.163	0.17140	-1.0297	0.20551	T	0.022	0.09238	T	10	0.008469224	0.00192	T	0.001589	0.02548	T	0.029	0.06676	.	.	0.0297737177859	0.01360	.	.	.	.	.	.	.	.	.	.	-0.604929	0.00136	T	-0.643821	0.09393	T	0.0364628390443406	0.03062	T	0.458254	0.13193	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.804881	0.11755	8.332	0.97373741219043686	0.33637	0.00804	0.03270	N	AEFI	0.032014	0.03537	N	-0.610707771108468	0.18622	0.9682712	-0.872194910843158	0.12755	0.6579369	1.10332305659469E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.95	-0.208	0.12536	-1.216000	0.03092	-20.000000	0.00162	0.512000	0.23348	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.272:0.5537:0.0:0.1743	2.740	0.04929	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	.	.	.	.	.	.	.	.	0.02632	3122.33	50	chr9	39361079	.	C	A	3122.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.303;DP=1138;ExcessHet=0;FS=2.612;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=49.77;MQRankSum=-0.285;QD=11.23;ReadPosRankSum=0.975;SOR=0.75	GT:AD:DP:GQ:PL	0/1:156,122:278:99:3136,0,4323	18	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	.	.	.	.	.	.	.	.	0.05556	120.4	5	chr9	41127944	.	C	A	120.4	.	AC=2;AF=0.056;AN=36;DP=107;ExcessHet=0;FS=0;InbreedingCoeff=0.63;MLEAC=1;MLEAF=0.028;MQ=24.21;QD=24.08;SOR=3.611	GT:AD:DP:GQ:PL	1/1:0,5:5:15:145,15,0	17	1	0	1
chr9	42189370	42189370	A	G	exonic	SPATA31A6	.	nonsynonymous SNV	SPATA31A6:NM_001145196:exon4:c.A3668G:p.H1223R	.	459	1054	3	6	0	15	0.00706547	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.0583857480729	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs2605684	0.0009	0.0029	0.0006	0.0011	0.0102	0.0008	0.0008	0.0094	0.0090	0.0029	0.0004	0.0008	0.0102	0	0.0011	7.088e-05	0.0007	0.0075	0.0005	0.0021	0.0005	0.0005	0.0021	0.0004	0.0004	0.0010	0.0008	0.0011	0	0.0004	0.0003	0.0002	0	0	0.0001	0.0016	0.0021	0.52	0.07259	T	0.878	0.03241	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.95	0.03382	T	0.44	0.03243	N	0.016	0.00203	.	.	.	.	.	.	.	0.026660025	0.00827	T	.	.	.	.	.	.	.	.	.	0.011995039232713214	0.01158	.	.	.	.	.	1.51E-4	0.00022	T	.	.	.	.	.	.	.	.	.	0.251175	0.03802	T	.	.	.	.	.	.	.	.	-2.786	0.08055	T	.	.	0.051	0.00161	B	.	.	-1.082120	0.00662	0.018	.	.	.	.	.	.	0.025104	0.01662	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.920000	0.04121	-20.000000	0.00162	-2.266000	0.00332	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	101.72	34	chr9	42189370	.	A	G	101.72	.	AC=2;AF=0.056;AN=36;DP=2370;ExcessHet=0;FS=0;InbreedingCoeff=0.867;MLEAC=1;MLEAF=0.028;MQ=36.01;QD=20.34;SOR=1.022	GT:AD:DP:GQ:PL	1/1:0,5:5:15:127,15,0	17	1	0	1
chr9	65283490	65283491	GA	-	exonic	FOXD4L5	.	frameshift deletion	FOXD4L5:NM_001126334:exon1:c.887_888del:p.F296Sfs*91	.	482	1011	29	0	0	29	0.0141394	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00559105	0.2313	0.0180	0.1389	0	0.6667	0.1933	0	0.4310	0.0011526	30	26028	rs562882568	0.0058	0.0066	0.0052	0.0064	0.0244	0.0057	0.0056	0.0235	0.0232	0.0007	0.0023	0.0070	2.519e-05	0.0066	0.0065	0.0048	0.0055	0.0244	0.0038	0.0043	0.0036	0.0040	0.0234	0.0035	0.0034	0.0199	0.0186	0.0006	0	0.0045	0.0052	0	0.0058	0.0137	0.0041	0.0038	0.0234	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017997	0.000000	0.012324	0.006173	0.000000	0.042857	0.011364	0.030000	0.02632	736.29	46	chr9	65283489	.	GGA	G	736.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.33;DP=753;ExcessHet=0;FS=3.291;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=29.55;MQRankSum=0.282;QD=6.52;ReadPosRankSum=1.58;SOR=1.112	GT:AD:DP:GQ:PL	0/1:88,25:113:99:750,0,3620	18	0	1	0
chr9	71730190	71730190	G	C	exonic	CEMIP2	.	nonsynonymous SNV	CEMIP2:NM_001135820:exon8:c.C1648G:p.Q550E,CEMIP2:NM_013390:exon9:c.C1837G:p.Q613E	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.0153888466249	0.0002	.	0.0001	0	0	0	0	0.0002	0	0	0.0001035	16	154602	rs150613091	0.0001	0.0001	0.0001	0.0001	2.987e-05	9.091e-05	8.598e-05	1.913e-05	1.661e-05	2.987e-05	0	0.0041	0	0	0	2.698e-05	0.0002	0	0.0002	0.0002	0.0002	0.0001	7.35e-05	0.0001	0.0001	2.847e-05	1.858e-05	0	0	0	0.0063	0	0	0	7.35e-05	0.0005	0	0.398	0.12469	T	0.389	0.15554	T	0.004	0.37852	B	0.003	0.34417	B	0.000000	0.84330	D	0.051182	0.999983	0.54805	D	.	.	.	0.82	0.48142	T	-1.23	0.31170	N	0.69	0.69562	-1.0480	0.14960	T	0.101	0.37543	T	10	0.020644516	0.00479	T	0.015389	0.36094	T	0.155	0.40530	.	.	0.390374949789	0.38653	0.9501706410193452	0.95000	0.19039271064	0.21358	0.683009266853	0.64701	T	0.037599	0.24533	T	0.0102695	0.53062	T	-0.207539	0.53930	T	0.22696017183281	0.21806	T	0.90001	0.69499	D	0.22313094	0.44927	0.25013664	0.50598	0.22313094	0.44927	0.25013664	0.50598	-3.695	0.31995	T	.	.	0.076	0.08899	B	.;.	.;.	3.937275	0.57590	23.9	0.9897281559804102	0.49560	0.99233	0.93193	D	AEFGBI	0.881921	0.80965	D	0.159851458524132	0.49280	3.130103	0.355965093759339	0.58868	4.060158	0.999999999999999	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.63	5.63	0.86108	9.449000	0.96765	11.839000	0.97761	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	19.670	0.95902	859	0.33891	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1021.33	33	chr9	71730190	.	G	C	1021.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.033;DP=774;ExcessHet=0;FS=2.898;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.02;ReadPosRankSum=1.34;SOR=0.437	GT:AD:DP:GQ:PL	0/1:44,41:85:99:1035,0,1193	18	0	1	0
chr9	77314654	77314654	G	A	exonic	VPS13A	.	nonsynonymous SNV	VPS13A:NM_001018037:exon36:c.G4285A:p.A1429T,VPS13A:NM_001018038:exon37:c.G4402A:p.A1468T,VPS13A:NM_015186:exon37:c.G4402A:p.A1468T,VPS13A:NM_033305:exon37:c.G4402A:p.A1468T	Choreoacanthocytosis, Autosomal recessive	27	1493	2	0	0	2	0.000669344	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.0131651629107	.	.	8.354e-06	0	0	0	0	0	0	6.066e-05	6.5e-06	1	154602	rs776271976	5.481e-06	5.472e-06	2.727e-06	8.262e-06	0.0002	2.36e-06	1.7e-06	3.85e-06	1.44e-06	0	0	0	0	0	0.0002	3.602e-06	1.658e-05	2.321e-05	6.576e-06	6.568e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.011	0.56456	D	0.065	0.45318	T	0.962	0.55554	D	0.7	0.54153	P	0.001882	0.37740	N	0.171825	0.666382	0.30403	N	2.695	0.78878	M	0.92	0.50459	T	-1.91	0.46503	N	0.281	0.42247	-0.8908	0.48864	T	0.185	0.53481	T	10	0.22157988	0.38886	T	0.013165	0.32344	T	0.101	0.28911	0.308	0.27967	0.698960112966	0.69635	0.31840423290752284	0.31753	0.149189735459	0.16824	0.467902779579	0.34392	T	0.334557	0.70428	T	-0.122915	0.32649	T	-0.313705	0.43260	T	0.811574280261993	0.47160	D	0.873613	0.58243	D	0.101658575	0.24015	0.14727877	0.34861	0.101658575	0.24014	0.14727877	0.34860	-6.772	0.52492	T	.	.	0.181	0.39339	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.058613	0.60212	24.2	0.99886069301302916	0.96126	0.92001	0.54726	D	AEFGBI	0.200432	0.32716	N	0.443208558016135	0.63817	4.623109	0.47215952658974	0.66153	4.915001	0.564200124559093	0.21439	0.706298	0.61202	0	0.708844	0.79440	0	0.608884	0.39905	0	0.613276	0.41899	0	.	.	5.35	5.35	0.76297	3.009000	0.49239	9.925000	0.82535	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0778:0.0:0.9222:0.0	13.385	0.60235	868	0.31772	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	837.33	40	chr9	77314654	.	G	A	837.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.291;DP=691;ExcessHet=0;FS=0.873;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=0.78;SOR=0.569	GT:AD:DP:GQ:PL	0/1:39,36:75:99:851,0,937	18	0	1	0
chr9	88991483	88991483	C	G	exonic	C9orf47	.	nonsynonymous SNV	C9orf47:NM_001001938:exon2:c.C260G:p.P87R,C9orf47:NM_001142413:exon2:c.C203G:p.P68R	.	413	1103	6	0	0	6	0.00271248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.328	.	0.0059	0.00978435	0.0157	0.0207	0	0	0	0.0095	0.0077	0.0189	0.0029042	449	154602	rs201976671	0.0084	0.0081	0.0083	0.0086	0.0185	0.0083	0.0082	0.0178	0.0174	0.0117	0.0045	0.0088	0.0003	0.0008	0.0020	0.0083	0.0088	0.0185	0.0081	0.0081	0.0083	0.0079	0.0205	0.0077	0.0075	0.0173	0.0160	0.0115	0	0.0042	0.0127	0.0002	0.0006	0	0.0076	0.0099	0.0205	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.19486	N	.	.	.	.	.	.	.	.	.	.	.	-1.0671	0.10062	T	0.048	0.20672	T	8	0.0040816665	0.00080	T	.	.	.	0.328	0.65026	.	.	0.0138822411134	0.00435	.	.	.	.	.	.	.	.	.	.	-0.538687	0.00341	T	-0.531627	0.19124	T	0.068240515513103	0.08403	T	0.431557	0.12582	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	0.37727	B	.;.	.;.	-0.033960	0.04055	0.939	0.96469185357153431	0.29928	0.00917	0.03571	N	ALL	0.024277	0.01477	N	-0.607487237036006	0.18718	0.9740632	-0.833759434358126	0.13678	0.7108873	0.999999715272411	0.74766	0.443343	0.08805	1	0.514364	0.08380	0	0.666236	0.60216	0	0.372554	0.06265	0	.	.	2.39	0.458	0.15882	-4.066000	0.00341	-3.731000	0.02575	0.443000	0.21123	0.000000	0.06391	0.000000	0.08366	0.093000	0.17941	0.2596:0.5868:0.0:0.1536	3.108	0.05966	635	0.64580	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003091	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.011111	0.02632	59.33	33	chr9	88991483	.	C	G	59.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.026;DP=612;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.8;ReadPosRankSum=0.726;SOR=1.038	GT:AD:DP:GQ:PL	0/1:27,6:33:73:73,0,746	18	0	1	0
chr9	92080918	92080918	G	C	exonic	SPTLC1	.	nonsynonymous SNV	SPTLC1:NM_001281303:exon4:c.C306G:p.N102K,SPTLC1:NM_006415:exon4:c.C306G:p.N102K,SPTLC1:NM_178324:exon4:c.C306G:p.N102K	Neuropathy, hereditary sensory and autonomic, type IA, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.845	0.399896509883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0068	0.0012	0.0010	0.0013	0.0011	0.0010	0.0013	0.0012	0.0012	4.477e-05	0.0003	0.0002	1.873e-05	0.0009	0.0013	0.0009	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.005	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.83	0.95627	H	-3.73	0.95458	D	-5.47	0.87143	D	0.946	0.96984	1.004	0.97255	D	0.941	0.98064	D	10	0.97626525	0.97408	D	0.399897	0.93374	D	0.845	0.95175	0.798	0.91802	0.945416172085	0.94484	0.9614716476571766	0.96133	1.13632118652	0.78799	0.737543225288	0.72611	T	0.97255	0.99710	D	0.219858	0.75763	D	0.0780339	0.75447	D	0.995089709758759	0.86803	D	0.978602	0.92442	D	0.9519136	0.96460	0.8880654	0.94130	0.9519136	0.96460	0.8880654	0.94130	-14.216	0.93737	D	0.860758186576928	0.92428	0.988	0.93037	P	.;.	.;.	4.020987	0.59386	24.1	0.9926344721683531	0.57289	0.83408	0.42527	D	AEFBI	0.256177	0.37516	N	0.211284656944223	0.51746	3.353416	0.0637648407406021	0.42742	2.59063	0.00398181740670549	0.10368	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.0	2.15	0.26590	1.717000	0.37612	4.300000	0.42938	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.3508:0.0:0.6492:0.0	10.600	0.44552	892	0.26670	Aminotransferase, class I/classII;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4737	14305.3	565	chr9	92080918	.	G	C	14305.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-3.988;DP=7105;ExcessHet=38.2876;FS=417.684;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=2.21;ReadPosRankSum=1.11;SOR=15.946	GT:AD:DP:GQ:PL	0/1:189,134:337:99:567,0,3136	1	0	18	0
chr9	97854413	97854424	GCCGCAGCCGCC	-	exonic	FOXE1	.	nonframeshift deletion	FOXE1:NM_004473:exon1:c.499_510del:p.A176_A179del	Bamforth-Lazarus syndrome, Autosomal recessive	44	1457	20	1	0	22	0.00749319	.	.	.	3203946	not_specified|FOXE1-related_disorder	MedGen:CN169374|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.0111	.	0.0111	0.0013	0.0349	0.0004	0.0232	0.0089	0.0070	0.0115	0.0006916	18	26028	rs762571620	0.0064	0.0059	0.0063	0.0065	0.0189	0.0063	0.0062	0.0167	0.0159	0.0012	0.0189	0.0058	0.0007	0.0166	0.0047	0.0062	0.0075	0.0084	0.0110	0.0076	0.0103	0.0117	0.0228	0.0104	0.0102	0.0203	0.0193	0.0030	0.1736	0.0228	0.0079	0.0052	0.0232	0.0058	0.0083	0.0055	0.0145	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	671.76	14	chr9	97854412	.	TGCCGCAGCCGCC	T	671.76	.	AC=1;AF=0.028;AN=36;BaseQRankSum=0.155;DP=546;ExcessHet=0;FS=0;InbreedingCoeff=-0.046;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=20.99;ReadPosRankSum=1.57;SOR=0.864	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:11,21:32:99:0|1:97854412_TGCCGCAGCCGCC_T:685,0,364:97854412	17	0	1	1
chr9	97854418	97854424	AGCCGCC	0	exonic	FOXE1	.	.	.	Bamforth-Lazarus syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	6078.44	13	chr9	97854418	.	AGCCGCC	*	6078.44	.	AC=1;AF=0.028;AN=36;BaseQRankSum=0.272;DP=493;ExcessHet=1.076;FS=1.222;InbreedingCoeff=-0.0176;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=27.5;ReadPosRankSum=0.489;SOR=0.595	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,21:26:99:1|0:97854412_TGCCGCAGCCGCC_T:909,207,364:97854412	17	0	1	1
chr9	105471961	105471961	G	T	exonic	FSD1L	.	nonsynonymous SNV	FSD1L:NM_001287191:exon4:c.G301T:p.A101S,FSD1L:NM_001287192:exon4:c.G301T:p.A101S,FSD1L:NM_001330739:exon4:c.G301T:p.A101S,FSD1L:NM_031919:exon4:c.G301T:p.A101S,FSD1L:NM_001145313:exon5:c.G397T:p.A133S	.	538	958	24	2	0	28	0.0144033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	.	0.0088	0.00319489	0.0081	0.0021	0	0	0.0080	0.0129	0.0121	0.0056	0.0025679	397	154602	rs117347201	0.0090	0.0086	0.0090	0.0091	0.0184	0.0089	0.0088	0.0155	0.0144	0.0017	0.0082	0.0179	3.636e-05	0.0079	0.0184	0.0094	0.0097	0.0056	0.0080	0.0080	0.0079	0.0082	0.0113	0.0076	0.0075	0.0102	0.0099	0.0019	0	0.0113	0.0185	0	0.0099	0.0213	0.0108	0.0117	0.0062	0.007	0.65419	D	0.033	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000015	0.62929	U	0.000000	0.874791	0.81001	D	2.505	0.72935	M	0.97	0.42502	T	-2.77	0.58733	D	0.597	0.68429	-0.7143	0.59741	T	0.187	0.53707	T	10	0.0049656928	0.00106	T	.	.	.	0.191	0.46948	.	.	0.526943034955	0.52341	0.36103982382109684	0.36017	.	.	0.682937860489	0.64690	T	0.039	0.29591	T	-0.343202	0.05169	T	-0.256367	0.49187	T	0.0154957271314856	0.00350	T	0.965903	0.88824	D	0.30125758	0.53017	0.33402807	0.59233	0.30125758	0.53017	0.33402807	0.59233	-6.333	0.59485	T	.	.	0.396	0.59353	A	.;.;.;.;.;.	.;.;.;.;.;.	4.704761	0.75520	26.3	0.9960850462564681	0.74634	0.94107	0.60133	D	AEFBI	0.627507	0.60994	D	0.709707811512654	0.80268	7.257006	0.686248716511135	0.81334	7.502418	0.999965478769355	0.48965	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.528226	0.09195	0	.	.	4.94	4.94	0.64645	6.915000	0.75593	11.662000	0.93998	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:0.0:1.0:0.0	17.286	0.87029	960	0.08626	B-box, C-terminal;B-box, C-terminal;.;B-box, C-terminal;B-box, C-terminal;B-box, C-terminal	FKTN|FKTN|FKTN|FKTN|FKTN	Artery_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|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	0.024173	0.021739	0.000000	0.027273	0.000000	0.100000	0.030488	0.026316	0.07895	2841.79	33	chr9	105471961	.	G	T	2841.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.256;DP=824;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=11.41;ReadPosRankSum=-0.767;SOR=0.721	GT:AD:DP:GQ:PL	0/1:41,48:89:99:1233,0,952	16	0	3	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	.	.	.	.	.	.	.	.	0.1765	2677.08	37	chr9	106974250	.	T	C	2677.08	.	AC=6;AF=0.176;AN=34;BaseQRankSum=-3.688;DP=2043;ExcessHet=2.0135;FS=235.068;InbreedingCoeff=-0.2261;MLEAC=6;MLEAF=0.176;MQ=60;MQRankSum=0;QD=2.93;ReadPosRankSum=1.51;SOR=11.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:104,58:162:99:0|1:106974250_T_C:675,0,1845:106974250	11	0	6	2
chr9	111371722	111371722	C	T	exonic	ECPAS	.	nonsynonymous SNV	ECPAS:NM_001363756:exon42:c.G4636A:p.A1546T,ECPAS:NM_001364931:exon42:c.G4654A:p.A1552T,ECPAS:NM_001364929:exon43:c.G4636A:p.A1546T,ECPAS:NM_001364930:exon43:c.G4636A:p.A1546T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.0180785677172	.	.	.	.	.	.	.	.	.	.	1.29e-05	2	154602	rs749856712	9.58e-06	9.577e-06	6.808e-06	1.238e-05	1.17e-05	5.56e-06	4.35e-06	6.53e-06	5.03e-06	0	0	0	0	0	0	1.17e-05	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.379	0.11227	T	0.262	0.92824	T	.	.	.	.	.	.	0.000001	0.62929	D	0.056173	0.999943	0.51968	D	.	.	.	-0.26	0.67187	T	-1.17	0.29933	N	0.509	0.61087	-0.7183	0.59546	T	0.256	0.62631	T	10	0.2524172	0.42595	T	0.018079	0.40021	T	0.115	0.32236	0.437	0.48993	0.318133320967	0.31420	0.4705721118429437	0.46976	0.159848078796	0.18038	0.730576038361	0.71590	T	0.032345	0.22444	T	0.00849777	0.52821	T	-0.22557	0.52199	T	0.56685346364975	0.35114	D	0.926107	0.72788	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.161	0.40714	B	.;.;.	.;.;.	3.667067	0.52120	23.2	0.99690775800769127	0.79909	0.97745	0.76826	D	AEFBI	0.524478	0.54765	D	0.203725132183652	0.51380	3.31966	0.371151862446584	0.59792	4.160187	0.999999997496737	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.73	5.73	0.89730	5.855000	0.69252	5.946000	0.51564	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.9272:0.0:0.0728	13.148	0.58891	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	.	.	.	.	.	.	.	.	0.02632	779.33	38	chr9	111371722	.	C	T	779.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.15;DP=732;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.39;ReadPosRankSum=0.507;SOR=0.765	GT:AD:DP:GQ:PL	0/1:53,30:83:99:793,0,1377	18	0	1	0
chr9	111713160	111713160	T	C	exonic	SHOC1	.	nonsynonymous SNV	SHOC1:NM_001378212:exon13:c.A2014G:p.I672V,SHOC1:NM_001080551:exon14:c.A2119G:p.I707V,SHOC1:NM_173521:exon16:c.A2236G:p.I746V,SHOC1:NM_001378211:exon18:c.A2428G:p.I810V	.	838	646	27	11	0	49	0.0365399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	.	0.0012	0.00399361	0.0067	0.0001	0.0012	0	0.0002	0.0030	0.0056	0.0327	0.0043919	679	154602	rs77603777	0.0026	0.0026	0.0017	0.0035	0.0273	0.0025	0.0025	0.0264	0.0260	0.0001	0.0008	0.0049	5.142e-05	9.446e-05	0.0120	0.0009	0.0028	0.0273	0.0018	0.0018	0.0012	0.0023	0.0222	0.0016	0.0015	0.0188	0.0175	0.0003	0	0.0017	0.0043	0	0	0.0170	0.0015	0.0014	0.0222	0.112	0.35537	T	0.159	0.31527	T	.	.	.	.	.	.	0.016668	0.27917	N	0.310911	0.960653	0.26138	N	.	.	.	3.58	0.04594	T	0.01	0.06868	N	0.186	0.25006	-0.9908	0.32398	T	0.012	0.04510	T	10	0.005660802	0.00126	T	.	.	.	0.051	0.14325	.	.	0.0297737177859	0.01360	0.12250603467386734	0.12177	0.238885580098	0.26443	.	.	.	.	.	.	-0.575007	0.00207	T	-0.578462	0.14682	T	0.0271089205306504	0.01560	T	0.608739	0.23867	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.30211	B	.;.;.;.	.;.;.;.	1.732206	0.22045	15.46	0.9281016935863946	0.22335	0.75720	0.37088	D	AEFGI	0.152045	0.27665	N	-0.20663209233838	0.32861	1.857969	-0.156974835452625	0.33140	1.89268	0.322556305796933	0.19399	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.53	1.57	0.22490	0.737000	0.25812	0.461000	0.18618	0.587000	0.30956	1.000000	0.71638	0.999000	0.35428	0.996000	0.76049	0.1311:0.0:0.2731:0.5958	7.601	0.27245	362	0.84826	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.006793	0.014706	0.000000	0.017241	0.003049	0.011364	0.05263	1842.83	33	chr9	111713160	.	T	C	1842.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.29;DP=751;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.78;ReadPosRankSum=0.147;SOR=0.734	GT:AD:DP:GQ:PL	0/1:40,39:79:99:935,0,1190	17	0	2	0
chr9	113479524	113479524	G	A	exonic	RGS3	.	nonsynonymous SNV	RGS3:NM_001282923:exon2:c.G13A:p.G5R,RGS3:NM_017790:exon2:c.G113A:p.R38Q,RGS3:NM_144488:exon5:c.G449A:p.R150Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.130	0.038325885513	.	.	4.942e-05	0	0	0	0	4.496e-05	0	0.0002	3.88e-05	6	154602	rs763284548	2.668e-05	2.668e-05	2.178e-05	3.163e-05	0.0001	1.997e-05	1.754e-05	7.124e-05	5.482e-05	0	2.236e-05	0	0	0	0	2.158e-05	4.967e-05	0.0001	1.314e-05	1.313e-05	1.285e-05	1.345e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.001	0.78490	D	0.092	0.39954	T	0.749	0.70673	P	0.018	0.64984	B	0.014537	0.28506	N	0.221591	0.997622	0.22580	N	1.245	0.31408	L	-1.0	0.76037	T	-0.98	0.25986	N	0.269	0.30461	-0.5350	0.67353	T	0.372	0.73091	T	10	0.15509155	0.29239	T	0.038326	0.58156	D	0.130	0.35528	0.531	0.63855	0.564910210825	0.56154	0.11836697124247203	0.11763	0.25158685093	0.27740	0.266571998596	0.05698	T	0.077454	0.35659	T	-0.19566	0.21433	T	-0.28216	0.46581	T	0.153819986472076	0.17404	T	0.69603	0.30552	T	0.2233183	0.44950	0.079720356	0.17970	0.2233183	0.44950	0.079720356	0.17970	-4.285	0.40862	T	.	.	0.097	0.17700	B	.;.;.	.;.;.	2.630513	0.34205	19.56	0.99903013640080063	0.97426	0.66780	0.33198	D	AEFDBI	0.201018	0.32771	N	-0.0250777504390442	0.40722	2.423252	-0.0160301120434167	0.38990	2.305165	0.999827635384925	0.43622	0.740787	0.97801	0	0.610034	0.51514	0	0.767554	0.98243	0	0.655142	0.61905	0	.	.	4.22	3.32	0.37134	0.875000	0.27729	1.048000	0.23614	-0.105000	0.15698	0.995000	0.38783	0.999000	0.35428	0.740000	0.35438	0.0:0.2038:0.7962:0.0	10.048	0.41374	841	0.37094	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1724.33	34	chr9	113479524	.	G	A	1724.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.98;DP=796;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.65;ReadPosRankSum=-0.123;SOR=0.74	GT:AD:DP:GQ:PL	0/1:82,66:148:99:1738,0,1960	18	0	1	0
chr9	114406374	114406374	C	G	exonic	WHRN	.	nonsynonymous SNV	WHRN:NM_001346890:exon5:c.G1164C:p.R388S,WHRN:NM_001083885:exon9:c.G1068C:p.R356S,WHRN:NM_001173425:exon9:c.G2217C:p.R739S,WHRN:NM_015404:exon9:c.G2217C:p.R739S	Deafness, autosomal recessive 31, Autosomal recessive;Usher syndrome, type 2D, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.246	0.0237251287023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.249	0.34959	T	0.996	0.68779	D	0.956	0.69739	D	0.000003	0.62929	D	0.058524	0.999998	0.58761	D	2.485	0.72352	M	3.72	0.11082	T	-1.76	0.41618	N	0.794	0.79022	-1.1467	0.01127	T	0.071	0.28969	T	10	0.7061209	0.72749	D	0.023725	0.46702	T	0.246	0.55340	0.267	0.21418	0.465381546717	0.46164	0.546202977391294	0.54546	0.217767607061	0.24300	0.665198624134	0.62152	T	0.178877	0.52967	T	0.156707	0.69894	D	-0.0126771	0.69508	D	0.965095579624176	0.67160	D	0.918408	0.70674	D	0.43276304	0.62933	0.30041197	0.56075	0.43276304	0.62933	0.30041197	0.56074	-3.765	0.20655	T	.	.	0.861	0.82156	P	.;.;.	.;.;.	4.122777	0.61634	24.4	0.99728939135831174	0.82619	0.85209	0.44322	D	AEFDBI	0.404361	0.47768	N	0.490746823562894	0.66546	4.964436	0.418910173237003	0.62744	4.495032	0.999998553595518	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.586402	0.36253	0	.	.	5.29	4.38	0.52019	0.480000	0.21954	1.068000	0.23780	0.599000	0.40250	0.996000	0.39380	1.000000	0.68203	0.662000	0.33024	0.0:0.8454:0.0:0.1546	9.668	0.39158	627	0.65350	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3824	7995.7	272	chr9	114406374	.	C	G	7995.7	.	AC=13;AF=0.382;AN=34;BaseQRankSum=-3.035;DP=4089;ExcessHet=13.8672;FS=165.2;InbreedingCoeff=-0.5835;MLEAC=14;MLEAF=0.412;MQ=60;MQRankSum=0;QD=3.01;ReadPosRankSum=0.718;SOR=13.316	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:158,77:246:99:.:.:1191,0,5380:.	4	0	13	2
chr9	114406375	114406375	C	G	exonic	WHRN	.	nonsynonymous SNV	WHRN:NM_001346890:exon5:c.G1163C:p.R388T,WHRN:NM_001083885:exon9:c.G1067C:p.R356T,WHRN:NM_001173425:exon9:c.G2216C:p.R739T,WHRN:NM_015404:exon9:c.G2216C:p.R739T	Deafness, autosomal recessive 31, Autosomal recessive;Usher syndrome, type 2D, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.328	0.0327677642762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.025	0.63918	D	1.0	0.90584	D	0.982	0.75477	D	0.000003	0.62929	D	0.058524	1	0.81001	D	2.485	0.72352	M	3.67	0.11947	T	-1.91	0.45042	N	0.816	0.81162	-1.0102	0.26854	T	0.111	0.39817	T	10	0.7625818	0.76459	D	0.032768	0.54504	D	0.328	0.65026	0.301	0.26843	0.629257994256	0.62622	0.515018125573271	0.51424	0.317085791368	0.33956	0.693475842476	0.66205	T	0.250673	0.62080	T	0.0954069	0.63792	D	-0.100731	0.63342	T	0.93917840719223	0.61041	D	0.923508	0.72088	D	0.42132396	0.62180	0.29035416	0.55058	0.42132396	0.62180	0.29035416	0.55057	-4.136	0.26316	T	.	.	0.663	0.73938	P	.;.;.	.;.;.	4.986942	0.82651	27.8	0.98226065711499799	0.39343	0.97842	0.77538	D	AEFDBI	0.694202	0.65328	D	0.672510807959941	0.77831	6.75116	0.61009073618077	0.75672	6.352084	0.999999999999999	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.586402	0.36253	0	.	.	5.29	5.29	0.74430	5.501000	0.66665	7.602000	0.61596	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.667000	0.33166	0.0:1.0:0.0:0.0	18.935	0.92554	627	0.65350	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2778	6730.11	112	chr9	114406375	.	C	G	6730.11	.	AC=10;AF=0.278;AN=36;BaseQRankSum=-6.068;DP=3407;ExcessHet=6.9875;FS=164.626;InbreedingCoeff=-0.3828;MLEAC=10;MLEAF=0.278;MQ=60;MQRankSum=0;QD=3.3;ReadPosRankSum=0.637;SOR=12.623	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:176,77:253:99:.:.:1173,0,5477:.	8	0	10	1
chr9	120862648	120862648	A	T	exonic	PHF19	.	nonsynonymous SNV	PHF19:NM_001286842:exon6:c.T443A:p.L148Q,PHF19:NM_001286840:exon11:c.T1127A:p.L376Q,PHF19:NM_015651:exon11:c.T1070A:p.L357Q	.	416	1105	1	0	0	1	0.000452284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.0119814386458	.	.	4.118e-05	9.61e-05	0	0	0	5.994e-05	0	0	3.23e-05	5	154602	rs752804322	2.873e-05	2.873e-05	2.859e-05	2.888e-05	3.237e-05	2.151e-05	1.908e-05	2.37e-05	2.103e-05	2.987e-05	0	0	0	0	0	3.237e-05	6.623e-05	1.159e-05	2.626e-05	2.625e-05	2.569e-05	2.685e-05	0.0002	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0.0002	0.711	0.26965	T	0.152	0.32249	T	0.0	0.02946	B	0.0	0.01387	B	0.244929	0.15631	N	0.615353	0.90434	0.28686	N	-0.255	0.03828	N	0.98	0.42502	T	0.47	0.03090	N	0.239	0.29081	-1.1010	0.03973	T	0.047	0.20037	T	10	0.053688765	0.05599	T	0.011981	0.30135	T	0.038	0.09825	0.391	0.41443	0.110392049598	0.10638	0.27053451967306574	0.26966	0.973992778713	0.73480	0.462403327227	0.33641	T	0.004151	0.09781	T	-0.305977	0.08108	T	-0.520926	0.20202	T	0.077722033909466	0.09693	T	0.667933	0.27701	T	0.079188384	0.18076	0.095068544	0.22531	0.079188384	0.18075	0.095068544	0.22530	-4.469	0.30481	T	.	.	0.074	0.05274	B	.;.;.;.	.;.;.;.	2.512630	0.32452	19.05	0.9761471629309012	0.34926	0.66613	0.33139	D	AEFDGBHCI	0.123857	0.23965	N	-0.56878211910695	0.19899	1.045006	-0.400272282036109	0.24989	1.371632	0.999999996438323	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.779548	0.98927	0	0.714379	0.83352	0	.	.	4.43	3.27	0.36580	1.526000	0.35570	7.034000	0.57312	0.756000	0.94297	0.846000	0.30379	1.000000	0.68203	0.836000	0.39433	0.8296:0.0:0.0:0.1704	8.655	0.33217	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	.	.	.	.	.	.	.	.	0.02632	516.33	34	chr9	120862648	.	A	T	516.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.271;DP=696;ExcessHet=0;FS=0.915;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.88;ReadPosRankSum=1.38;SOR=0.922	GT:AD:DP:GQ:PL	0/1:48,27:75:99:530,0,1240	18	0	1	0
chr9	122510992	122510992	G	T	exonic	OR1J2	.	nonsynonymous SNV	OR1J2:NM_054107:exon1:c.G191T:p.S64I	.	430	1085	7	0	0	7	0.00321543	.	.	.	2826376	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.113	0.00176290250066	0.0030	0.000199681	0.0022	0.0003	0.0004	0	0.0018	0.0031	0.0045	0.0020	0.0020181	312	154602	rs137857788	0.0023	0.0023	0.0022	0.0024	0.0035	0.0022	0.0022	0.0023	0.0023	0.0002	0.0016	0.0072	0	0.0018	0.0035	0.0024	0.0021	0.0019	0.0028	0.0028	0.0028	0.0027	0.0043	0.0025	0.0024	0.0035	0.0034	0.0003	0	0.0043	0.0104	0	0.0022	0	0.0039	0.0024	0.0019	0.0	0.91255	D	0.001	0.83351	D	0.999	0.77913	D	0.97	0.72226	D	0.202783	0.16557	U	0.437600	0.992502	0.23871	N	3.09	0.87444	M	4.54	0.01963	T	-4.93	0.81755	D	0.152	0.15609	-1.0771	0.07922	T	0.041	0.17700	T	10	0.0097102225	0.00218	T	0.001763	0.02986	T	0.113	0.31778	.	.	0.516050471323	0.51246	0.13747008139480088	0.13671	0.0254987253627	0.02608	0.271674007177	0.06360	T	0.009272	0.08447	T	-0.435855	0.01368	T	-0.396656	0.33774	T	0.0600872728727388	0.07182	T	0.122788	0.00953	T	0.8630298	0.88317	0.86641306	0.92619	0.8630298	0.88319	0.86641306	0.92619	-8.785	0.66303	D	.	.	0.241	0.47568	B	.	.	3.550619	0.49907	22.9	0.9963278499090692	0.76142	0.38911	0.26095	N	AEFDBI	0.251682	0.37151	N	0.412768209716865	0.62124	4.423205	0.259588903816134	0.53195	3.48983	0.870122219736566	0.25399	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.88	3.98	0.45383	0.853000	0.27431	0.134000	0.15084	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.975000	0.56047	0.0:0.1496:0.8504:0.0	14.334	0.66135	917	0.20147	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	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	3758.33	78	chr9	122510992	.	G	T	3758.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.13;DP=1012;ExcessHet=0;FS=3.274;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.37;ReadPosRankSum=-0.993;SOR=0.903	GT:AD:DP:GQ:PL	0/1:142,139:281:99:3772,0,3672	18	0	1	0
chr9	125220560	125220560	C	A	exonic	RABEPK	.	nonsynonymous SNV	RABEPK:NM_001174153:exon5:c.C233A:p.P78Q,RABEPK:NM_005833:exon5:c.C386A:p.P129Q,RABEPK:NM_001174152:exon6:c.C386A:p.P129Q	.	424	1056	38	4	0	46	0.021316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	.	0.0032	0.0131789	0.0108	0.0023	0.0273	0.0366	0.0003	0.0027	0.0099	0.0280	0.0099352	1536	154602	rs74769898	0.0060	0.0060	0.0055	0.0066	0.0350	0.0059	0.0059	0.0335	0.0328	0.0019	0.0264	0.0047	0.0350	0.0002	0.0232	0.0029	0.0067	0.0272	0.0059	0.0059	0.0052	0.0067	0.0292	0.0056	0.0055	0.0254	0.0239	0.0016	0	0.0235	0.0058	0.0292	0	0.0171	0.0028	0.0033	0.0217	0.043	0.57480	D	0.051	0.61642	T	1.0	0.90584	D	0.99	0.78936	D	0.006842	0.31758	N	0.363683	0.999446	0.47080	D	3.72	0.94773	H	0.97	0.66294	T	-4.42	0.84175	D	0.662	0.67132	-1.0783	0.07681	T	0.028	0.12014	T	10	0.0064848065	0.00147	T	.	.	.	0.221	0.51721	.	.	.	.	0.6740180901266283	0.67339	0.233025175349	0.25843	0.377287000418	0.21871	T	0.08909	0.44184	T	-0.249871	0.14115	T	-0.105936	0.62934	T	0.0934891749203669	0.11626	T	0.733327	0.38041	T	0.522306	0.68392	0.43743414	0.67163	0.522306	0.68393	0.43743414	0.67163	-10.065	0.77970	D	.	.	0.174	0.62994	B	.;.;.;.	.;.;.;.	4.352240	0.66859	25.0	0.99131009604192399	0.53249	0.96984	0.72022	D	AEFDGBI	0.664585	0.63370	D	0.31568777204679	0.56953	3.861072	0.418815872447802	0.62737	4.494331	0.999843403595419	0.43971	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.7	5.7	0.88690	4.807000	0.62267	7.675000	0.64997	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.737000	0.35335	0.0:1.0:0.0:0.0	18.832	0.92112	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	0.025176	0.005051	0.027174	0.043860	0.050000	0.025862	0.015244	0.022727	0.02632	1177.33	37	chr9	125220560	.	C	A	1177.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.35;DP=887;ExcessHet=0;FS=3.348;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.2;ReadPosRankSum=0.124;SOR=1.012	GT:AD:DP:GQ:PL	0/1:82,46:128:99:1191,0,2234	18	0	1	0
chr9	127449331	127449331	A	G	exonic	RPL12	.	nonsynonymous SNV	RPL12:NM_000976:exon4:c.T242C:p.I81T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.898	0.017903367915	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.56456	D	0.014	0.62352	D	0.023	0.20876	B	0.169	0.35248	B	0.000000	0.84330	U	0.000000	0.999998	0.58761	D	3.46	0.92336	M	.	.	.	-4.08	0.74742	D	0.885	0.89131	-0.0450	0.81312	T	0.477	0.79986	T	9	0.8855362	0.87879	D	0.017903	0.39776	T	0.898	0.97135	0.788	0.91068	0.869797360952	0.86853	0.8561621922693654	0.85579	0.933160951243	0.71918	0.921512067318	0.98437	D	0.227419	0.59270	T	0.457585	0.92820	D	0.419513	0.92731	D	0.984218895435333	0.75599	D	0.848015	0.53201	T	0.6813607	0.77042	0.4542548	0.68266	0.6813607	0.77044	0.4542548	0.68266	-10.194	0.75064	D	.	.	0.985	0.95023	P	.;.	.;.	4.675209	0.74757	26.2	0.99407907156774822	0.63122	0.98858	0.87789	D	AEFGBCI	0.948300	0.95977	D	0.368023709016137	0.59699	4.151361	0.437746083639085	0.63934	4.637418	0.999999999999669	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	4.98	4.98	0.65679	8.195000	0.89688	11.095000	0.86003	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	12.951	0.57797	510	0.75209	Ribosomal protein L11, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	966.33	33	chr9	127449331	.	A	G	966.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.387;DP=711;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=-0.25;SOR=0.811	GT:AD:DP:GQ:PL	0/1:41,33:74:99:980,0,1182	18	0	1	0
chr9	127707148	127707148	G	C	exonic	CFAP157	.	nonsynonymous SNV	CFAP157:NM_001012502:exon1:c.G117C:p.E39D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00511713534183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.054e-06	4.926e-05	2.725e-06	1.376e-06	2.699e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.30656	T	0.133	0.34359	T	0.58	0.38813	P	0.16	0.34752	B	0.011693	0.29437	N	0.400143	0.937019	0.26902	N	.	.	.	0.85	0.47130	T	-2.13	0.48354	N	0.253	0.28616	-1.0776	0.07821	T	0.089	0.34271	T	10	0.15869087	0.29835	T	0.005117	0.13001	T	0.048	0.13305	0.117	0.02508	0.511220899679	0.50763	0.22389107574446282	0.22304	0.665481085244	0.59146	.	.	.	0.083009	0.36958	T	-0.233602	0.16174	T	-0.573329	0.15145	T	0.768105268478394	0.44326	D	0.642936	0.25461	T	0.07620602	0.17219	0.08653153	0.20054	0.07620602	0.17219	0.08653153	0.20054	-5.906	0.47647	T	.	.	0.170	0.37312	B	.;.	.;.	1.611943	0.20598	14.82	0.99153328533649743	0.53875	0.62448	0.31784	D	AEFDGBCI	0.199371	0.32618	N	-0.115357649790928	0.36724	2.126585	-0.0733379664216469	0.36497	2.124728	0.999992507834303	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.587068	0.30358	0	0.645665	0.59343	0	.	.	5.46	2.23	0.27189	0.091000	0.14885	0.384000	0.17813	0.649000	0.52879	0.993000	0.37899	0.958000	0.29226	0.883000	0.42306	0.3494:0.0:0.4698:0.1808	3.228	0.06340	268	0.89479	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3529	3675.71	62	chr9	127707148	.	G	C	3675.71	.	AC=12;AF=0.353;AN=34;BaseQRankSum=-1.183;DP=1556;ExcessHet=20.8569;FS=238.955;InbreedingCoeff=-0.7271;MLEAC=13;MLEAF=0.382;MQ=60;MQRankSum=0;QD=2.9;ReadPosRankSum=1.4;SOR=11.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:69,20:96:74:.:.:74,0,1279:.	5	0	12	2
chr9	128160433	128160433	G	A	exonic	C9orf16	.	nonsynonymous SNV	C9orf16:NM_024112:exon1:c.G26A:p.G9E	.	401	1119	2	0	0	2	0.000892857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.0225562069857	.	.	0.0002	0	0	0	0	0.0004	0	0	6.5e-06	1	154602	rs755834609	3.656e-05	3.078e-05	3.404e-05	3.933e-05	0.0001	2.719e-05	2.448e-05	3.228e-05	2.842e-05	0	0.0001	0	0	0	0	4.284e-05	0	0	1.316e-05	1.314e-05	2.573e-05	0	1.471e-05	2.19e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.471e-05	0.0005	0	1.0	0.00964	T	0.834	0.03674	T	0.799	0.44910	P	0.459	0.46380	P	0.134635	0.18509	N	0.577422	0.991544	0.24018	N	.	.	.	.	.	.	0.27	0.04306	N	0.207	0.22998	-1.0434	0.16294	T	0.035	0.15074	T	8	0.10773039	0.20024	T	0.022556	0.45460	T	0.122	0.33800	0.407	0.44066	0.566372544126	0.56301	0.12770574317962666	0.12696	0.631749493559	0.57118	.	.	.	0.010149	0.09188	T	-0.273089	0.11416	T	-0.393382	0.34155	T	0.79783695936203	0.46207	D	0.564244	0.19889	T	0.038698483	0.05205	0.07195237	0.15466	0.038698483	0.05205	0.07195237	0.15465	-3.69	0.19171	T	.	.	0.180	0.39168	B	.	.	3.150037	0.42638	21.6	0.96885487849484164	0.31477	0.68912	0.33983	D	AEFDGBHCI	0.138496	0.25981	N	-0.222582767702485	0.32208	1.813981	-0.18274052905199	0.32171	1.827631	0.999999999999993	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.44	2.45	0.28953	3.605000	0.53839	3.943000	0.40617	-0.141000	0.12389	0.999000	0.42656	1.000000	0.68203	0.939000	0.47918	0.2002:0.1726:0.6271:0.0	5.227	0.14719	422	0.81333	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	464.33	35	chr9	128160433	.	G	A	464.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.385;DP=648;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=-1.214;SOR=0.818	GT:AD:DP:GQ:PL	0/1:20,18:38:99:478,0,529	18	0	1	0
chr9	129009272	129009272	G	A	exonic	SH3GLB2	.	nonsynonymous SNV	SH3GLB2:NM_001287046:exon10:c.C914T:p.A305V,SH3GLB2:NM_001369915:exon10:c.C866T:p.A289V,SH3GLB2:NM_020145:exon10:c.C914T:p.A305V,SH3GLB2:NM_001287045:exon12:c.C941T:p.A314V,SH3GLB2:NM_001369913:exon12:c.C974T:p.A325V	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00499593591493	0.0013	0.00219649	0.0026	0.0019	0.0015	0.0004	0	0.0027	0.0039	0.0042	0.0011125	172	154602	rs17455482	0.0021	0.0020	0.0020	0.0021	0.0031	0.0020	0.0020	0.0028	0.0027	0.0004	0.0005	0.0003	2.628e-05	0.0003	0.0007	0.0023	0.0016	0.0031	0.0013	0.0013	0.0013	0.0012	0.0029	0.0011	0.0011	0.0019	0.0018	0.0006	0.0044	0.0003	0.0003	0	0.0002	0	0.0021	0	0.0029	0.289	0.19710	T	0.37	0.19599	T	0.003	0.11197	B	0.001	0.06944	B	0.000169	0.48594	N	0.139615	0.849264	0.39583	D	1.445	0.36358	L	2.09	0.20523	T	-1.33	0.33197	N	0.085	0.06854	-1.0465	0.15389	T	0.027	0.11397	T	10	0.005794823	0.00129	T	0.004996	0.12598	T	0.060	0.17295	.	.	0.241664281697	0.23763	0.38804227476226855	0.38719	0.270440210467	0.29564	0.576643049717	0.49613	T	0.024515	0.18510	T	-0.532829	0.00370	T	-0.541827	0.18118	T	0.0159402068023885	0.00378	T	0.79822	0.44873	T	0.052296225	0.09732	0.070777275	0.15078	0.052296225	0.09731	0.070777275	0.15077	-4.009	0.23938	T	.	.	0.084	0.11076	B	.;.;.;.;.	.;.;.;.;.	2.094810	0.26650	17.19	0.99166748491820955	0.54269	0.84096	0.43181	D	AEFDGBHCI	0.257064	0.37587	N	-0.628340432551424	0.18096	0.936791	-0.525655664053068	0.21458	1.160878	0.999999994472484	0.74766	0.634777	0.41761	0	0.643519	0.57511	0	0.606735	0.37207	0	0.635551	0.53088	0	.	.	4.87	3.97	0.45241	1.046000	0.29964	6.619000	0.56113	0.676000	0.76740	0.324000	0.25538	1.000000	0.68203	0.134000	0.19723	0.0793:0.0:0.9207:0.0	12.805	0.56989	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	0.005123	0.000000	0.005450	0.002994	0.000000	0.000000	0.006329	0.011538	0.02632	724.33	40	chr9	129009272	.	G	A	724.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.31;DP=733;ExcessHet=0;FS=3.346;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.2;ReadPosRankSum=0.847;SOR=0.497	GT:AD:DP:GQ:PL	0/1:44,27:71:99:738,0,1164	18	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	0.1471	639.25	27	chr9	133208141	.	T	A	639.25	.	AC=5;AF=0.147;AN=34;BaseQRankSum=-0.043;DP=366;ExcessHet=1.3;FS=0.892;InbreedingCoeff=-0.1875;MLEAC=5;MLEAF=0.147;MQ=56.82;MQRankSum=-4.721;QD=5.07;ReadPosRankSum=-0.827;SOR=0.495	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:16,5:21:87:.:.:87,0,470:.	12	0	5	2
chr9	133256020	133256020	G	A	exonic	ABO	.	unknown	UNKNOWN	.	429	1078	13	2	0	17	0.00782329	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.000798722	0.0010	0.0005	0.0008	0	0	0.0005	0	0.0029	0.0004204	65	154602	rs201439325	0.0003	0.0003	0.0002	0.0004	0.0052	0.0003	0.0003	0.0038	0.0033	6.12e-05	0.0006	7.828e-05	5.294e-05	0	0.0052	0.0001	0.0006	0.0022	0.0003	0.0003	0.0002	0.0003	0.0027	0.0002	0.0002	0.0016	0.0013	0	0	0.0005	0	0	0	0.0306	0.0001	0.0009	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	0.006559	0.000000	0.005435	0.020588	0.000000	0.008772	0.003049	0.003788	0.02632	1955.33	38	chr9	133256020	.	G	A	1955.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.29;DP=1935;ExcessHet=0;FS=2.052;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.04;ReadPosRankSum=0.697;SOR=0.892	GT:AD:DP:GQ:PL	0/1:80,70:150:99:1969,0,1870	18	0	1	0
chr9	133475447	133475447	C	T	exonic	SLC2A6	.	nonsynonymous SNV	SLC2A6:NM_001145099:exon5:c.G727A:p.D243N,SLC2A6:NM_017585:exon5:c.G727A:p.D243N	.	424	1075	21	2	0	25	0.0114943	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.434	0.21043458979	0.0002	0.00179712	0.0013	0.0001	0.0034	0	0	0.0004	0.0012	0.0052	0.0010802	167	154602	rs149329547	0.0006	0.0006	0.0004	0.0007	0.0065	0.0006	0.0005	0.0048	0.0043	2.99e-05	0.0032	7.666e-05	7.563e-05	0	0.0065	0.0002	0.0008	0.0049	0.0004	0.0004	0.0003	0.0005	0.0050	0.0004	0.0003	0.0034	0.0029	7.212e-05	0	0.0014	0	0	0	0.0102	0.0002	0.0024	0.0050	0.05	0.42783	D	0.32	0.66756	T	0.996	0.73220	D	0.814	0.64797	P	0.010641	0.29847	U	0.199113	0.922276	0.36713	D	1.59	0.40313	L	-0.99	0.75911	T	-3.74	0.71276	D	0.223	0.26717	-0.0621	0.80948	T	0.436	0.77599	T	10	0.01229012	0.00265	T	0.210435	0.87252	D	0.434	0.73951	.	.	0.863918522964	0.86260	0.5297243923000858	0.52896	0.290067604166	0.31416	0.494619250298	0.38080	T	0.337916	0.70724	T	-0.427621	0.01533	T	-0.386208	0.34995	T	0.05322409154485	0.06057	T	.	.	.	0.09328398	0.21906	0.10218753	0.24486	0.09328398	0.21906	0.10218753	0.24485	-6.617	0.51803	T	.	.	0.113	0.29311	B	.;.;.	.;.;.	3.400685	0.47126	22.4	0.99727939379243813	0.82549	0.96365	0.68782	D	AEFDGBI	0.375660	0.46010	N	0.404137749036085	0.61649	4.368883	0.331540844064204	0.57402	3.905795	0.999999999393115	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.39	5.39	0.77615	4.021000	0.56907	3.885000	0.40262	0.599000	0.40250	0.999000	0.42656	0.999000	0.35428	0.006000	0.07323	0.0:1.0:0.0:0.0	18.131	0.89532	775	0.48401	.;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	0.008081	0.000000	0.006812	0.017647	0.000000	0.008621	0.006211	0.003788	0.02632	1197.33	38	chr9	133475447	.	C	T	1197.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.75;DP=750;ExcessHet=0;FS=2.725;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.87;ReadPosRankSum=-0.981;SOR=0.984	GT:AD:DP:GQ:PL	0/1:49,44:93:99:1211,0,1152	18	0	1	0
chr9	133729776	133729776	C	T	exonic	SARDH	.	nonsynonymous SNV	SARDH:NM_001134707:exon6:c.G904A:p.E302K,SARDH:NM_007101:exon6:c.G904A:p.E302K	.	413	1106	3	0	0	3	0.0013544	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.208	0.142168681597	.	.	3.311e-05	0	0	0	0	6.017e-05	0	0	2.59e-05	4	154602	rs773227673	2.944e-05	3.215e-05	2.589e-05	3.303e-05	0.0002	2.219e-05	1.972e-05	2.455e-05	2.143e-05	0	4.474e-05	0	0	0	0.0002	3.328e-05	3.312e-05	1.16e-05	7.229e-05	7.223e-05	6.424e-05	8.072e-05	0.0005	3.972e-05	3.128e-05	0.0003	0.0002	4.826e-05	0	0.0005	0	0	0	0	0	0.0005	0	0.153	0.24372	T	0.432	0.51112	T	0.721	0.42361	P	0.271	0.39904	B	0.000005	0.62929	D	0.103566	0.999992	0.58761	D	1.57	0.39626	L	1.6	0.81399	T	-1.87	0.46146	N	0.574	0.63374	-0.2436	0.76532	T	0.404	0.75473	T	10	0.4514609	0.58725	T	0.142169	0.82456	D	0.208	0.49714	0.611	0.74418	0.728364398758	0.72595	0.7421632141352067	0.74162	0.530478802121	0.50583	0.689001202583	0.65563	T	0.389153	0.78673	T	0.0825542	0.62338	D	0.0112579	0.71063	D	0.510109186172485	0.33001	D	0.981385	0.94316	D	0.44232488	0.63552	0.35431033	0.60978	0.44232488	0.63553	0.35431033	0.60978	-10.148	0.74793	D	.	.	0.100	0.30529	B	.;.;.;.;.;.	.;.;.;.;.;.	3.281184	0.44954	22.0	0.99891764985232467	0.96589	0.90957	0.52583	D	AEFDBHCI	0.765446	0.70193	D	0.229507067955209	0.52632	3.436318	0.305794077168795	0.55880	3.750814	0.999937386682344	0.46732	0.743674	0.98306	0	0.61073	0.52368	0	0.630245	0.45026	0	0.613276	0.41899	0	.	.	5.02	5.02	0.66742	3.680000	0.54375	5.674000	0.49268	-1.080000	0.01570	0.996000	0.39380	1.000000	0.68203	0.472000	0.28386	0.0:1.0:0.0:0.0	18.337	0.90232	833	0.38804	FAD dependent oxidoreductase;FAD dependent oxidoreductase;FAD dependent oxidoreductase;FAD dependent oxidoreductase;FAD dependent oxidoreductase;FAD dependent oxidoreductase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1730.33	44	chr9	133729776	.	C	T	1730.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.964;DP=827;ExcessHet=0;FS=2.5;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=-1.73;SOR=0.575	GT:AD:DP:GQ:PL	0/1:45,66:111:99:1744,0,991	18	0	1	0
chr9	134835104	134835104	C	T	exonic	COL5A1	.	nonsynonymous SNV	COL5A1:NM_000093:exon65:c.C5270T:p.T1757M,COL5A1:NM_001278074:exon65:c.C5270T:p.T1757M	Ehlers-Danlos syndrome, classic type, Autosomal dominant	0	1494	28	0	0	28	0.00928382	.	.	.	140617	Familial_thoracic_aortic_aneurysm_and_aortic_dissection|Ehlers-Danlos_syndrome,_classic_type|Ehlers-Danlos_syndrome_type_7A|Ehlers-Danlos_syndrome,_classic_type,_1|Fibromuscular_dysplasia,_multifocal|not_specified|not_provided|Ehlers-Danlos_syndrome	MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|MONDO:MONDO:0007522,MedGen:C4225429,Orphanet:287|MONDO:MONDO:0020521,MedGen:C3508773|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000|MONDO:MONDO:0859151,MedGen:C5543412,OMIM:619329|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.451	.	0.0014	0.0269569	0.0121	0.0009	0.0116	0.0882	0.0005	0.0019	0.0103	0.0249	0.0112806	1744	154602	rs2229817	0.0049	0.0049	0.0044	0.0053	0.0795	0.0048	0.0047	0.0772	0.0762	0.0006	0.0086	0.0148	0.0795	0.0003	0.0040	0.0006	0.0097	0.0220	0.0050	0.0051	0.0044	0.0057	0.0917	0.0047	0.0046	0.0849	0.0822	0.0008	0	0.0026	0.0127	0.0917	0.0002	0	0.0009	0.0057	0.0211	0.008	0.58626	D	0.044	0.49942	D	0.995	0.67487	D	0.778	0.57212	P	0.007178	0.31557	U	0.261183	0.882265	0.28028	N	2.655	0.77738	M	-0.85	0.74371	T	-2.2	0.49519	N	0.185	0.31365	-0.6790	0.61419	T	0.058	0.24317	T	10	0.0027009249	0.00042	T	.	.	.	0.451	0.75143	.	.	.	.	0.4858146501938287	0.48501	0.306892659518	0.32992	0.561442613602	0.47472	T	0.572343	0.85861	D	-0.380576	0.03090	T	-0.243791	0.50428	T	0.012884577986513	0.00221	T	0.918208	0.70605	D	0.31913874	0.54567	0.35206926	0.60791	0.3935818	0.60285	0.28474456	0.54473	-8.279	0.62955	D	0.26940633294760913	0.36267	0.091	0.19357	B	.;.	.;.	4.405581	0.68111	25.2	0.99758358737992425	0.84851	0.84546	0.43629	D	AEFDGBI	0.236355	0.35881	N	0.637509601434317	0.75562	6.328087	0.588344727769782	0.74101	6.080413	0.999899576348115	0.45129	0.67177	0.52595	0	0.659464	0.62310	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	5.03	5.03	0.67015	2.331000	0.43552	3.899000	0.40339	0.599000	0.40250	0.994000	0.38300	0.999000	0.35428	0.965000	0.52897	0.0:1.0:0.0:0.0	18.364	0.90328	805	0.43675	Fibrillar collagen, C-terminal|Fibrillar collagen, C-terminal|Fibrillar collagen, C-terminal|Fibrillar collagen, 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	0.006042	0.000000	0.000000	0.008772	0.000000	0.000000	0.018293	0.018939	0.02632	1895.33	33	chr9	134835104	.	C	T	1895.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.44;DP=894;ExcessHet=0;FS=0.521;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.07;ReadPosRankSum=-0.786;SOR=0.74	GT:AD:DP:GQ:PL	0/1:129,80:209:99:1909,0,3050	18	0	1	0
chr9	134909811	134909811	A	G	exonic	FCN1	.	nonsynonymous SNV	FCN1:NM_002003:exon9:c.T968C:p.V323A	.	435	1082	5	0	0	5	0.00230521	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.411	0.086798882285	.	0.000599042	0.0008	0	8.643e-05	0	0	7.505e-05	0.0022	0.0054	0.0006533	101	154602	rs535025459	0.0004	0.0004	0.0002	0.0006	0.0060	0.0004	0.0004	0.0056	0.0054	0	4.472e-05	0	2.519e-05	3.765e-05	0.0010	4.137e-05	0.0003	0.0060	0.0002	0.0002	0.0001	0.0003	0.0060	0.0002	0.0001	0.0043	0.0037	0	0	0	0	0	0	0.0068	1.472e-05	0	0.0060	0.028	0.46129	D	0.009	0.66756	D	0.122	0.26746	B	0.333	0.42166	B	.	.	.	.	0.971064	0.25672	N	2.935	0.84639	M	-1.14	0.77843	T	-1.83	0.42957	N	0.193	0.21188	-0.1313	0.79371	T	0.571	0.84499	D	9	0.014410198	0.00303	T	0.086799	0.74809	D	0.411	0.72252	0.639	0.77579	0.940830667215	0.94021	0.8327264117121216	0.83231	0.289302345327	0.31336	0.33172878623	0.15195	T	0.146522	0.48417	T	-0.322926	0.06661	T	-0.235133	0.51273	T	0.148833841159432	0.17009	T	0.746525	0.36724	T	0.5365262	0.69202	0.35496795	0.61032	0.5365262	0.69203	0.35496795	0.61032	-8.015	0.61172	D	.	.	0.414	0.60351	A	.	.	2.615087	0.33970	19.50	0.99477075654967506	0.66687	0.66484	0.33094	D	AEFDGBI	0.532513	0.55235	D	-0.0496787373863153	0.39617	2.339172	-0.125315793070129	0.34372	1.976454	0.999999955492462	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.2	3.2	0.35826	4.356000	0.59205	2.689000	0.34074	0.743000	0.86499	0.181000	0.24076	0.065000	0.22112	0.139000	0.19909	1.0:0.0:0.0:0.0	9.740	0.39580	726	0.54788	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	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	2102.33	80	chr9	134909811	.	A	G	2102.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.991;DP=1584;ExcessHet=0;FS=0.649;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.35;ReadPosRankSum=0.797;SOR=0.763	GT:AD:DP:GQ:PL	0/1:55,82:137:99:2116,0,1519	18	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	.	.	.	.	.	.	.	.	0.02632	1562.33	69	chr9	136407264	.	C	G	1562.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0;DP=1032;ExcessHet=0;FS=0.604;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.49;ReadPosRankSum=-2.232;SOR=0.64	GT:AD:DP:GQ:PL	0/1:85,64:149:99:1576,0,2247	18	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	0.02632	1454.33	35	chr9	137186288	.	C	T	1454.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.03;DP=800;ExcessHet=0;FS=0.683;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=-1.209;SOR=0.774	GT:AD:DP:GQ:PL	0/1:65,54:119:99:1468,0,1723	18	0	1	0
chr9	137234642	137234643	CT	-	exonic	SLC34A3	.	frameshift deletion	SLC34A3:NM_001177316:exon12:c.1246_1247del:p.L417Tfs*175,SLC34A3:NM_001177317:exon12:c.1246_1247del:p.L417Tfs*175,SLC34A3:NM_080877:exon12:c.1246_1247del:p.L417Tfs*175	Hypophosphatemic rickets with hypercalciuria, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	946543	SLC34A3-related_disorder|Autosomal_recessive_hypophosphatemic_bone_disease|not_provided	.|MONDO:MONDO:0009431,MedGen:C1853271,OMIM:241530,Orphanet:157215|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	5.095e-05	0	0.0004	0	0	1.551e-05	0	0	3.88e-05	6	154602	rs757714479	7.054e-05	7.046e-05	7.768e-05	6.332e-05	0.0003	5.92e-05	5.529e-05	0.0002	0.0002	2.987e-05	0.0003	0	0	0	0	7.105e-05	9.94e-05	2.319e-05	1.97e-05	1.968e-05	0	4.03e-05	0.0001	5.24e-06	2.45e-06	2.259e-05	9.06e-06	0	0	0.0001	0	0	0	0	1.471e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	5521.29	34	chr9	137234641	.	CCT	C	5521.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.08;DP=964;ExcessHet=0;FS=0.435;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.58;ReadPosRankSum=-1.04;SOR=0.748	GT:AD:DP:GQ:PL	0/1:140,142:282:99:5535,0,5417	18	0	1	0
chr10	825249	825249	T	C	exonic	LARP4B	.	nonsynonymous SNV	LARP4B:NM_001351277:exon13:c.A1300G:p.S434G,LARP4B:NM_015155:exon13:c.A1300G:p.S434G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00390173934956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.259	0.16628	T	0.094	0.39645	T	0.034	0.20480	B	0.012	0.16012	B	0.000000	0.84330	D	0.124272	0.999909	0.50806	D	1.83	0.48079	L	1.42	0.33189	T	-1.32	0.32991	N	0.378	0.42149	-1.0760	0.08144	T	0.048	0.20553	T	10	0.09752631	0.17572	T	0.003902	0.09180	T	0.023	0.04649	0.235	0.16457	0.189391138174	0.18552	0.5409899109821052	0.54023	0.296725836107	0.32059	0.615102767944	0.55037	T	0.072244	0.34406	T	-0.147588	0.28690	T	-0.449777	0.27720	T	0.606496572494507	0.36659	D	0.835216	0.50504	T	0.1529754	0.34699	0.12790082	0.30779	0.1529754	0.34699	0.12790082	0.30779	-5.445	0.41350	T	.	.	0.098	0.19679	B	.;.	.;.	3.996231	0.58848	24.0	0.98635954636874601	0.43987	0.96367	0.68792	D	AEFDBI	0.396291	0.47282	N	-0.0822847856859552	0.38168	2.231465	0.131294021325016	0.46157	2.866445	0.999198281609489	0.38711	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.57	5.57	0.84021	5.068000	0.64193	7.942000	0.75525	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0743:0.0:0.9257	10.134	0.41870	884	0.28482	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	3198.86	113	chr10	825249	.	T	C	3198.86	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-3.463;DP=2358;ExcessHet=31.086;FS=172.694;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=60;MQRankSum=0;QD=1.44;ReadPosRankSum=1.83;SOR=12.863	GT:AD:DP:GQ:PL	0/1:94,47:141:99:248,0,1568	2	0	17	0
chr10	17953286	17953286	C	T	exonic	SLC39A12	.	nonsynonymous SNV	SLC39A12:NM_001145195:exon2:c.C10T:p.R4W,SLC39A12:NM_001282733:exon2:c.C10T:p.R4W,SLC39A12:NM_152725:exon2:c.C10T:p.R4W	.	434	1086	2	0	0	2	0.000919963	.	.	.	2400030	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.053	0.0126068082992	.	.	2.492e-05	0	8.664e-05	0.0001	0	1.508e-05	0	0	1.94e-05	3	154602	rs782725317	1.779e-05	1.847e-05	1.906e-05	1.65e-05	0.0002	1.238e-05	1.052e-05	3.983e-05	2.374e-05	0.0001	4.474e-05	0	2.519e-05	0	0.0002	7.195e-06	0.0001	1.16e-05	1.971e-05	1.97e-05	1.284e-05	2.69e-05	0.0002	5.24e-06	2.45e-06	.	.	2.413e-05	0	0	0	0.0002	9.418e-05	0	0	0	0	0.156	0.24090	T	0.133	0.34359	T	0.0	0.02946	B	0.0	0.01387	B	0.152251	0.17929	N	0.555807	0.999999	0.58761	D	-2.125	0.00148	N	1.93	0.22881	T	0.89	0.01893	N	0.158	0.18784	-1.0324	0.19681	T	0.016	0.06329	T	10	0.040391415	0.02604	T	0.012607	0.31334	T	0.053	0.14996	0.527	0.63263	0.0297737177859	0.01360	0.2447363870088137	0.24387	0.023310643868	0.02366	0.216499060392	0.01117	T	1.66E-4	0.00025	T	-0.473545	0.00808	T	-0.69229	0.06257	T	0.0475272885670417	0.05058	T	0.581242	0.21054	T	0.041482367	0.06116	0.031670157	0.01790	0.041482367	0.06115	0.031670157	0.01789	-3.741	0.19925	T	.	.	0.045	0.00084	B	.;.;.	.;.;.	1.019184	0.13987	10.55	0.91148117935541673	0.20401	0.11075	0.16390	N	AEFBI	0.111051	0.22000	N	-0.907408165344509	0.10668	0.5108833	-0.705544945273078	0.16822	0.8917315	0.00354045292157448	0.10164	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.72	1.8	0.24069	0.159000	0.16258	-0.111000	0.11829	-0.781000	0.03322	0.849000	0.30428	0.001000	0.17328	0.343000	0.25501	0.1507:0.2017:0.1385:0.5091	1.262	0.01881	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	1	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1650.33	34	chr10	17953286	.	C	T	1650.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.06;DP=725;ExcessHet=0;FS=2.941;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.56;ReadPosRankSum=-0.054;SOR=0.392	GT:AD:DP:GQ:PL	0/1:36,58:94:99:1664,0,955	18	0	1	0
chr10	27853302	27853302	G	A	exonic	ARMC4	.	nonsynonymous SNV	ARMC4:NM_001290021:exon13:c.C1658T:p.P553L	Ciliary dyskinesia, primary, 23, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.000952662200715	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1227373901	2.656e-05	9.224e-05	2.368e-05	2.828e-05	0.0001	7.06e-06	2.96e-06	3.911e-05	2.055e-05	0	0	0	0	0	0	0	0	0.0001	1.319e-05	0.0002	0	2.698e-05	0.0002	2.19e-06	8.2e-07	.	.	0	0	0	0	0.0002	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	62.73	6	chr10	27853302	.	G	A	62.73	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.524;DP=113;ExcessHet=0;FS=0;InbreedingCoeff=-0.0491;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.55;ReadPosRankSum=0.524;SOR=0.368	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:3,2:5:76:0|1:27853289_T_C:76,0,83:27853289	18	0	1	0
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	.	.	.	.	.	.	.	.	0.08824	1433.55	133	chr10	50104144	.	G	A	1433.55	.	AC=3;AF=0.088;AN=34;BaseQRankSum=-3.127;DP=1257;ExcessHet=5.3738;FS=151.293;InbreedingCoeff=-0.3711;MLEAC=3;MLEAF=0.088;MQ=55.97;MQRankSum=0.546;QD=2.01;ReadPosRankSum=0.853;SOR=10.566	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:47,21:68:99:0|1:50104141_G_C:237,0,1640:50104141	14	0	3	2
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	0.02632	1017.33	46	chr10	52315038	.	G	T	1017.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.106;DP=818;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.56;ReadPosRankSum=-0.149;SOR=0.627	GT:AD:DP:GQ:PL	0/1:34,41:75:99:1031,0,808	18	0	1	0
chr10	53806959	53806959	G	A	exonic	PCDH15	.	nonsynonymous SNV	PCDH15:NM_001354420:exon34:c.C4648T:p.R1550C,PCDH15:NM_001354429:exon37:c.C4777T:p.R1593C,PCDH15:NM_001384140:exon38:c.C4843T:p.R1615C	Deafness, autosomal recessive 23, Autosomal recessive;Usher syndrome, type 1D/F digenic, Autosomal recessive, Digenic recessive;Usher syndrome, type 1F, Autosomal recessive	1	1518	3	0	0	3	0.000987167	.	.	.	4007805	Autosomal_recessive_nonsyndromic_hearing_loss_23|Usher_syndrome_type_1D|Usher_syndrome_type_1F	MONDO:MONDO:0012293,MedGen:C1836027,OMIM:609533,Orphanet:90636|MONDO:MONDO:0010984,MedGen:C1832845,OMIM:601067,Orphanet:231169,Orphanet:886|MONDO:MONDO:0011186,MedGen:C1865885,OMIM:602083,Orphanet:231169,Orphanet:886	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.253	0.00606562582175	.	0.000199681	1.665e-05	0	0	0	0	1.509e-05	0	6.057e-05	1.29e-05	2	154602	rs570828018	1.163e-05	1.163e-05	1.361e-05	9.627e-06	2.319e-05	7.09e-06	5.79e-06	6.52e-06	5.03e-06	0	2.236e-05	0	0	0	0	1.169e-05	1.656e-05	2.319e-05	1.314e-05	1.312e-05	2.572e-05	0	0.0002	2.18e-06	8.2e-07	.	.	0	0	6.552e-05	0	0	0	0	0	0	0.0002	.	.	.	0.005	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.81711	0.34722	D	.	.	.	.	.	.	.	.	.	0.55	0.84922	-0.1559	0.78771	T	0.435	0.77523	T	9	0.32615846	0.49917	T	0.006066	0.15846	T	0.253	0.56294	0.422	0.46529	0.478905595755	0.47518	.	.	.	.	.	.	.	0.051741	0.29924	T	-0.116632	0.33675	T	-0.223782	0.52371	T	0.81679493188858	0.47536	D	0.944006	0.78847	D	.	.	.	.	.	.	.	.	-6.336	0.49007	T	.	.	0.373	0.61700	A	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.346220	0.66720	25.0	0.99841717576915789	0.92229	0.92721	0.56383	D	AEFGI	0.744662	0.68758	D	0.735731330709004	0.81976	7.649409	0.736585793741386	0.85151	8.49608	7.66553864448293E-4	0.07776	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.86	5.86	0.93936	3.734000	0.54760	8.669000	0.78002	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.8542:0.1458	14.621	0.68184	968	0.07033	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1266.33	43	chr10	53806959	.	G	A	1266.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.95;DP=791;ExcessHet=0;FS=1.608;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.95;ReadPosRankSum=-0.169;SOR=0.506	GT:AD:DP:GQ:PL	0/1:60,46:106:99:1280,0,1679	18	0	1	0
chr10	54213995	54213995	G	A	exonic	PCDH15	.	nonsynonymous SNV	PCDH15:NM_001142767:exon9:c.C928T:p.L310F,PCDH15:NM_001142768:exon9:c.C973T:p.L325F,PCDH15:NM_001142773:exon9:c.C973T:p.L325F,PCDH15:NM_001142764:exon10:c.C1039T:p.L347F,PCDH15:NM_001142765:exon10:c.C1039T:p.L347F,PCDH15:NM_001142766:exon10:c.C1039T:p.L347F,PCDH15:NM_001354411:exon10:c.C1039T:p.L347F,PCDH15:NM_001354420:exon10:c.C1039T:p.L347F,PCDH15:NM_001354429:exon10:c.C1039T:p.L347F,PCDH15:NM_001354430:exon10:c.C1039T:p.L347F,PCDH15:NM_001384140:exon10:c.C1039T:p.L347F,PCDH15:NM_033056:exon10:c.C1039T:p.L347F,PCDH15:NM_001142763:exon11:c.C1054T:p.L352F,PCDH15:NM_001354404:exon12:c.C973T:p.L325F	Deafness, autosomal recessive 23, Autosomal recessive;Usher syndrome, type 1D/F digenic, Autosomal recessive, Digenic recessive;Usher syndrome, type 1F, Autosomal recessive	3	1495	24	0	0	24	0.00796284	.	.	.	55599	not_specified|Usher_syndrome_type_1|not_provided|Usher_syndrome_type_1F	MedGen:CN169374|MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:231169,Orphanet:886|MedGen:C3661900|MONDO:MONDO:0011186,MedGen:C1865885,OMIM:602083,Orphanet:231169,Orphanet:886	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.254	0.0477581669201	0.0035	0.00119808	0.0036	0.0006	0.0018	0	0.0009	0.0053	0.0033	0.0028	0.0035575	550	154602	rs111033436	0.0041	0.0041	0.0039	0.0042	0.0050	0.0040	0.0039	0.0042	0.0041	0.0007	0.0020	0.0168	0	0.0010	0.0050	0.0043	0.0045	0.0030	0.0032	0.0032	0.0033	0.0030	0.0046	0.0029	0.0028	0.0042	0.0040	0.0008	0.0110	0.0029	0.0161	0	0.0004	0.0034	0.0046	0.0043	0.0027	0.002	0.72154	D	0.0	0.92824	D	0.997	0.90584	D	0.964	0.88582	D	.	.	.	.	1	0.81001	D	2.615	0.76484	M	0.43	0.56772	T	-2.87	0.62518	D	0.807	0.87481	-0.3166	0.74517	T	0.307	0.67740	T	9	0.0059919655	0.00134	T	0.047758	0.63066	D	0.254	0.56428	.	.	0.705405603352	0.70284	0.6460078611123972	0.64535	0.21467462913	0.24008	0.611727297306	0.54561	T	0.124994	0.82072	T	-0.257932	0.13143	T	-0.140943	0.60036	T	0.0103998413265441	0.00143	T	0.944805	0.79334	D	0.4974293	0.66944	0.3812635	0.63140	0.50377804	0.67317	0.36944348	0.62214	-11.315	0.81932	D	0.6398601033422839	0.71041	0.504	0.74312	A	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.742781	0.76508	26.5	0.99903023584850525	0.97426	0.94803	0.62383	D	AEFDI	0.849311	0.76613	D	0.798106157721513	0.85986	8.743229	0.752945161623409	0.86377	8.869651	0.499505483150631	0.20930	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.99	4.99	0.65942	7.139000	0.76905	9.765000	0.81528	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	18.206	0.89790	894	0.26265	Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;.;Cadherin-like|Cadherin-like;.;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like;Cadherin-like|Cadherin-like;.;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.005035	0.010101	0.001359	0.005848	0.000000	0.000000	0.006098	0.007576	0.02632	856.33	33	chr10	54213995	.	G	A	856.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.96;DP=715;ExcessHet=0;FS=1.891;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.98;ReadPosRankSum=-0.051;SOR=0.781	GT:AD:DP:GQ:PL	0/1:45,33:78:99:870,0,1125	18	0	1	0
chr10	70730157	70730157	G	A	exonic	ADAMTS14	.	nonsynonymous SNV	ADAMTS14:NM_080722:exon6:c.G1010A:p.R337H,ADAMTS14:NM_139155:exon6:c.G1010A:p.R337H	.	412	1109	1	0	0	1	0.000450653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.400	0.012873821663	7.7e-05	.	6.62e-05	0	0	0.0006	0	3.012e-05	0	6.08e-05	6.47e-05	10	154602	rs369181052	4.245e-05	4.446e-05	4.633e-05	3.853e-05	0.0003	3.379e-05	3.067e-05	0.0002	0.0001	2.987e-05	0	0	0.0003	7.652e-05	0.0002	2.968e-05	8.282e-05	6.958e-05	1.313e-05	1.312e-05	0	2.685e-05	2.405e-05	2.18e-06	8.2e-07	.	.	2.405e-05	0	0	0	0	0	0	1.47e-05	0	0	0.082	0.33418	T	0.111	0.37449	T	0.403	0.34918	B	0.141	0.33616	B	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	1.28	0.32218	L	-0.06	0.63568	T	-3.68	0.70314	D	0.831	0.83269	-0.7435	0.58272	T	0.204	0.56155	T	10	0.6179853	0.67815	D	0.012874	0.31816	T	0.400	0.71401	.	.	0.789634371715	0.78768	0.5807996029976017	0.58008	0.432887186333	0.43457	0.779604017735	0.78867	T	0.157478	0.50009	T	-0.100927	0.36271	T	-0.00690525	0.69887	D	0.277995695012923	0.24087	T	0.955204	0.82942	D	0.38551342	0.59712	0.27138206	0.53039	0.38551342	0.59712	0.27138206	0.53038	-8.329	0.63291	D	.	.	0.096	0.15430	B	.;.	.;.	4.993079	0.82791	27.9	0.99914648709577125	0.98309	0.98867	0.87911	D	AEFDGBI	0.924523	0.90269	D	0.381938428994944	0.60444	4.233313	0.481860335205949	0.66789	4.997974	0.999999999999886	0.74766	0.538715	0.22204	0	0.573888	0.26702	0	0.78367	0.99111	0	0.564101	0.26826	0	.	.	4.7	4.7	0.58776	9.923000	0.98785	8.451000	0.77220	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	17.816	0.88545	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	.	.	.	.	.	.	.	.	0.02632	1445.33	36	chr10	70730157	.	G	A	1445.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.858;DP=742;ExcessHet=0;FS=3.828;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.9;ReadPosRankSum=0.642;SOR=1.166	GT:AD:DP:GQ:PL	0/1:48,56:104:99:1459,0,1085	18	0	1	0
chr10	72063097	72063097	C	T	exonic	SPOCK2	.	nonsynonymous SNV	SPOCK2:NM_001244950:exon10:c.G1057A:p.G353S,SPOCK2:NM_014767:exon11:c.G1057A:p.G353S	.	409	1102	11	0	0	11	0.00496614	.	.	.	701427	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.525	.	0.0027	0.0061901	0.0051	0.0011	0.0084	0.0275	0	0.0061	0.0101	0.0029	0.0025485	394	154602	rs2306322	0.0044	0.0043	0.0043	0.0044	0.0229	0.0043	0.0042	0.0216	0.0210	0.0025	0.0028	0.0047	0.0229	0.0003	0.0079	0.0040	0.0062	0.0032	0.0035	0.0035	0.0036	0.0033	0.0158	0.0032	0.0031	0.0131	0.0120	0.0023	0	0.0040	0.0032	0.0158	9.413e-05	0.0034	0.0035	0.0052	0.0044	0.002	0.72154	D	0.007	0.69154	D	1.0	0.90584	D	0.959	0.70163	D	0.000005	0.62929	D	0.105066	1	0.81001	D	2.46	0.71463	M	-0.45	0.69896	T	-4.33	0.76740	D	0.744	0.75927	0.013	0.82518	D	0.421	0.76610	T	10	0.0058939457	0.00132	T	.	.	.	0.525	0.79886	.	.	0.638034261915	0.63505	0.8111794937839341	0.81072	0.957348511422	0.72876	0.591453313828	0.51699	T	0.296053	0.66870	T	-0.0298021	0.47447	T	0.195446	0.82877	D	0.014830433773313	0.00313	T	0.925008	0.72455	D	0.6479564	0.75254	0.7034858	0.82523	0.6479564	0.75256	0.7034858	0.82524	-9.766	0.72498	D	.	.	0.071	0.04198	B	.;.;.	.;.;.	5.044459	0.83977	28.2	0.99878954500517714	0.95572	0.97549	0.75477	D	AEFGBI	0.776794	0.70979	D	0.675202964745712	0.78006	6.78569	0.597829288230604	0.74785	6.196329	0.999999999999991	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.12	5.12	0.69459	7.810000	0.84617	3.985000	0.40938	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.946000	0.48989	0.0:1.0:0.0:0.0	18.176	0.89693	846	0.36215	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;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	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008845	0.026882	0.006944	0.005848	0.000000	0.017544	0.000000	0.004000	0.02632	702.33	36	chr10	72063097	.	C	T	702.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.16;DP=746;ExcessHet=0;FS=1.037;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.9;ReadPosRankSum=-0.555;SOR=0.468	GT:AD:DP:GQ:PL	0/1:32,27:59:99:716,0,767	18	0	1	0
chr10	77217505	77217505	C	A	exonic	KCNMA1	.	nonsynonymous SNV	KCNMA1:NM_001322838:exon4:c.G40T:p.G14C	Generalized epilepsy and paroxysmal dyskinesia, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	146.33	33	chr10	77217505	.	C	A	146.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.751;DP=795;ExcessHet=0;FS=79.884;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.42;ReadPosRankSum=1.18;SOR=6.272	GT:AD:DP:GQ:PL	0/1:81,22:103:99:160,0,2142	18	0	1	0
chr10	77977615	77977615	A	T	exonic	POLR3A	.	nonsynonymous SNV	POLR3A:NM_007055:exon31:c.T4036A:p.C1346S	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1486378	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.470	0.0594439100362	.	0.000199681	4.942e-05	0	0.0002	0	0	2.997e-05	0	0.0001	4.53e-05	7	154602	rs149956037	7.321e-05	7.319e-05	5.583e-05	9.077e-05	0.0002	6.182e-05	5.743e-05	0.0001	0.0001	0	0.0002	0	0	0	0	7.106e-05	3.312e-05	0.0002	5.256e-05	5.25e-05	9e-05	1.344e-05	0.0003	2.557e-05	1.83e-05	8.873e-05	5.284e-05	2.408e-05	0	0.0003	0	0	0	0	4.412e-05	0	0	0.241	0.17643	T	0.278	0.21812	T	0.028	0.19712	B	0.015	0.17295	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.955	0.23872	L	-0.16	0.65378	T	-4.37	0.77061	D	0.865	0.86191	-0.9489	0.41160	T	0.154	0.48412	T	9	0.44289285	0.58213	T	0.059444	0.67665	D	0.470	0.76421	0.737	0.86978	0.788873268749	0.78691	0.9019654516143274	0.90168	0.439276402373	0.43951	0.889690756798	0.95222	D	0.296219	0.66885	T	0.0567344	0.59201	T	0.0987644	0.76827	D	0.166965917404276	0.18371	T	0.968503	0.88585	D	0.39863622	0.60638	0.5690896	0.75052	0.39863622	0.60638	0.5690896	0.75052	-5.807	0.44635	T	0.1140405540741424	0.10048	0.511	0.65101	A	.	.	2.944667	0.39164	20.9	0.93495234309095399	0.23299	0.96869	0.71382	D	AEFDBCI	0.912397	0.87297	D	0.0396907255130889	0.43671	2.655385	0.247572027942937	0.52511	3.42554	0.999999999299071	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.47	5.47	0.80345	8.434000	0.90158	10.918000	0.84221	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.524	0.75625	837	0.37933	DNA-directed RNA polymerase III subunit RPC1, 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	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.003788	0.02632	1683.33	33	chr10	77977615	.	A	T	1683.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.41;DP=721;ExcessHet=0;FS=0.846;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.18;ReadPosRankSum=1.12;SOR=0.885	GT:AD:DP:GQ:PL	0/1:41,57:98:99:1697,0,964	18	0	1	0
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	.	.	.	.	.	.	.	.	0.02632	106.34	19	chr10	87228559	.	G	A	106.34	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.242;DP=527;ExcessHet=0;FS=0;InbreedingCoeff=-0.0279;MLEAC=1;MLEAF=0.026;MQ=27.84;MQRankSum=0.538;QD=10.63;ReadPosRankSum=-2.369;SOR=0.368	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:6,4:10:99:0|1:87228550_C_T:120,0,225:87228550	18	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	0.05263	3721.83	34	chr10	89339709	.	G	C	3721.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.32;DP=938;ExcessHet=0.119;FS=3.792;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.45;ReadPosRankSum=-0.011;SOR=0.818	GT:AD:DP:GQ:PL	0/1:78,71:149:99:1852,0,2173	17	0	2	0
chr10	89403641	89403641	G	C	exonic	IFIT1	.	nonsynonymous SNV	IFIT1:NM_001548:exon2:c.G1366C:p.A456P,IFIT1:NM_001270927:exon3:c.G1366C:p.A456P,IFIT1:NM_001270928:exon3:c.G1273C:p.A425P,IFIT1:NM_001270929:exon3:c.G1273C:p.A425P,IFIT1:NM_001270930:exon3:c.G1273C:p.A425P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.826	0.110795725916	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.739e-06	2.873e-05	5.45e-06	0	2.99e-05	6.4e-07	4.3e-07	3e-07	1.1e-07	2.99e-05	0	3.829e-05	0	0	0	1.8e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.002024	0.37411	U	0.175846	1	0.81001	D	2.83	0.82355	M	-3.5	0.94658	D	-4.64	0.79998	D	0.645	0.65673	0.997	0.97141	D	0.909	0.96996	D	10	0.97418547	0.97121	D	0.110796	0.78832	D	0.826	0.94466	0.899	0.97729	0.985082141014	0.98492	0.8079779210656974	0.80752	0.450892133838	0.44853	0.462060928345	0.33594	T	0.809042	0.95208	D	0.494798	0.94145	D	0.472966	0.94068	D	0.994435429573059	0.85721	D	0.79652	0.44001	T	0.93677735	0.94920	0.82939625	0.90146	0.93677735	0.94920	0.82939625	0.90146	-8.518	0.64548	D	.	.	0.924	0.84509	P	.;.	.;.	4.423042	0.68520	25.2	0.99799447171960343	0.88461	0.97440	0.74764	D	AEFBI	0.901291	0.84780	D	0.673294674577491	0.77881	6.761252	0.556896627571631	0.71877	5.722491	0.992365808123254	0.32813	0.706548	0.73137	0	0.724815	0.89359	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	5.47	5.47	0.80345	4.657000	0.61185	5.071000	0.47178	0.676000	0.76740	1.000000	0.71638	0.999000	0.35428	0.633000	0.32236	0.0787:0.0:0.9213:0.0	12.078	0.52954	883	0.28872	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	.	.	.	.	.	.	.	.	0.125	150.82	85	chr10	89403641	.	G	C	150.82	.	AC=3;AF=0.125;AN=24;BaseQRankSum=-1.958;DP=1759;ExcessHet=0.3672;FS=162.58;InbreedingCoeff=-0.2146;MLEAC=4;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.49;ReadPosRankSum=1.5;SOR=9.855	GT:AD:DP:GQ:PL	0/1:72,28:104:34:34,0,1371	9	0	3	7
chr10	92052232	92052232	C	T	exonic	CPEB3	.	nonsynonymous SNV	CPEB3:NM_001178137:exon10:c.G2035A:p.V679I,CPEB3:NM_014912:exon10:c.G2077A:p.V693I	.	432	1088	2	0	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.00924210500838	0.0004	0.000798722	0.0013	0.0001	0.0004	0.0007	0.0030	0.0015	0.0024	0.0016	0.0012031	186	154602	rs140779166	0.0011	0.0011	0.0011	0.0011	0.0012	0.0010	0.0010	0.0010	0.0010	0.0001	0.0005	0.0016	0.0002	0.0039	0.0009	0.0010	0.0011	0.0012	0.0011	0.0011	0.0009	0.0013	0.0017	0.0010	0.0009	0.0010	0.0008	0.0003	0	0.0014	0.0014	0	0.0041	0	0.0011	0.0014	0.0017	1.0	0.00964	T	0.856	0.03447	T	0.078	0.29379	B	0.02	0.23121	B	0.000000	0.84330	D	0.000000	0.999955	0.52396	D	0.49	0.13296	N	1.07	0.39990	T	-0.12	0.09297	N	0.146	0.14763	-1.0251	0.22050	T	0.083	0.32499	T	10	0.005017549	0.00108	T	0.009242	0.24272	T	0.149	0.39377	.	.	0.102598925029	0.09809	0.3819421058550225	0.38109	1.06899569482	0.76745	0.472741872072	0.35057	T	0.006522	0.05951	T	-0.46733	0.00883	T	-0.474142	0.25070	T	0.0187603489905347	0.00588	T	0.839616	0.51418	T	0.0999785	0.23602	0.12136237	0.29281	0.0999785	0.23601	0.12136237	0.29281	-4.407	0.36093	T	.	.	0.071	0.15251	B	.;.;.	.;.;.	4.052127	0.60070	24.2	0.70303460954677066	0.09252	0.80307	0.39979	D	AEFDGBHCI	0.298156	0.40755	N	-0.154700462369715	0.35034	2.007345	0.0633983686387691	0.42723	2.589199	0.967763039742773	0.29001	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.664235	0.64389	0	.	.	5.65	5.65	0.86881	3.368000	0.52084	4.054000	0.41532	0.549000	0.26987	1.000000	0.71638	0.999000	0.35428	0.992000	0.67800	0.0:1.0:0.0:0.0	19.707	0.96075	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	0.001008	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	2628.33	33	chr10	92052232	.	C	T	2628.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.49;DP=844;ExcessHet=0;FS=1.699;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.76;ReadPosRankSum=0.427;SOR=0.828	GT:AD:DP:GQ:PL	0/1:107,99:206:99:2642,0,2500	18	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	0.05263	1195.83	34	chr10	95684564	.	C	T	1195.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.01;DP=704;ExcessHet=0.119;FS=3.269;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=9.34;ReadPosRankSum=0.191;SOR=0.975	GT:AD:DP:GQ:PL	0/1:35,24:59:99:526,0,905	17	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	0.05263	3811.83	34	chr10	95693676	.	G	A	3811.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.17;DP=890;ExcessHet=0.119;FS=0.963;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.57;ReadPosRankSum=0.952;SOR=0.769	GT:AD:DP:GQ:PL	0/1:67,68:135:99:2040,0,1797	17	0	2	0
chr10	96158508	96158508	A	G	exonic	ZNF518A	.	nonsynonymous SNV	ZNF518A:NM_001278525:exon6:c.A2186G:p.D729G,ZNF518A:NM_001330732:exon6:c.A2186G:p.D729G,ZNF518A:NM_001330735:exon6:c.A2186G:p.D729G,ZNF518A:NM_001330736:exon6:c.A2186G:p.D729G,ZNF518A:NM_014803:exon6:c.A2186G:p.D729G,ZNF518A:NM_001278524:exon7:c.A2186G:p.D729G,ZNF518A:NM_001278526:exon7:c.A596G:p.D199G,ZNF518A:NM_001330733:exon7:c.A2186G:p.D729G,ZNF518A:NM_001330734:exon7:c.A2186G:p.D729G,ZNF518A:NM_001330737:exon7:c.A2186G:p.D729G,ZNF518A:NM_001330738:exon7:c.A2186G:p.D729G	.	428	1073	21	0	0	21	0.00969082	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.00339457	0.0026	0.0001	0.0005	0.0001	0	0.0004	0	0.0167	0.0021992	340	154602	rs374324754	0.0012	0.0012	0.0007	0.0017	0.0168	0.0012	0.0012	0.0161	0.0158	5.984e-05	0.0003	3.834e-05	5.041e-05	0	0.0040	0.0002	0.0015	0.0168	0.0007	0.0007	0.0003	0.0010	0.0168	0.0006	0.0005	0.0138	0.0127	0	0	0.0001	0	0.0004	0	0	0.0003	0.0005	0.0168	.	.	.	0.429	0.13752	T	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	.	.	.	1.445	0.36358	L	.	.	.	.	.	.	0.217	0.24385	.	.	.	.	.	.	.	0.004383743	0.00089	T	.	.	.	.	.	.	.	0.139678290688	0.13603	0.13755343746640727	0.13679	.	.	0.283195018768	0.07942	T	0.003454	0.02859	T	-0.394251	0.02524	T	-0.326117	0.41899	T	.	.	.	0.475952	0.14261	T	0.050538234	0.09144	0.13970518	0.33324	0.050538234	0.09144	0.13970518	0.33324	-3.587	0.17669	T	.	.	0.091	0.13032	B	.;.;.	.;.;.	0.907653	0.12819	9.334	0.51426713281855718	0.04561	0.04362	0.09933	N	AEFBI	.	.	.	.	.	.	.	.	.	0.0537488858259811	0.14949	0.295142	0.05270	0	0.30413	0.05452	0	0.17184	0.04098	0	0.24341	0.04801	0	0.13589	0.26340	5.55	-4.83	0.02929	0.475000	0.21874	2.344000	0.32272	-0.133000	0.13014	0.007000	0.17678	0.938000	0.28711	0.179000	0.21265	0.2371:0.2526:0.2379:0.2723	0.217	0.00152	514	0.74853	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.005435	0.005848	0.000000	0.000000	0.006098	0.011364	0.02632	1269.33	42	chr10	96158508	.	A	G	1269.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.275;DP=1011;ExcessHet=0;FS=1.523;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.33;ReadPosRankSum=-0.156;SOR=0.543	GT:AD:DP:GQ:PL	0/1:64,48:112:99:1283,0,1953	18	0	1	0
chr10	98415083	98415083	G	-	exonic	PYROXD2	.	frameshift deletion	PYROXD2:NM_032709:exon1:c.53delC:p.P18Rfs*14	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2027.29	38	chr10	98415082	.	CG	C	2027.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.89;DP=878;ExcessHet=0;FS=1.247;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.07;ReadPosRankSum=-1.482;SOR=0.583	GT:AD:DP:GQ:PL	0/1:96,72:168:99:2041,0,2901	18	0	1	0
chr10	117283947	117283947	T	G	exonic	PDZD8	.	nonsynonymous SNV	PDZD8:NM_173791:exon5:c.A2786C:p.N929T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.183	0.036831061741	0.0052	0.000798722	0.0052	0.0013	0.0029	0	0.0064	0.0080	0.0055	6.056e-05	0.0052975	819	154602	rs140922572	0.0075	0.0075	0.0077	0.0073	0.0088	0.0074	0.0074	0.0087	0.0086	0.0015	0.0039	0.0043	5.038e-05	0.0085	0.0010	0.0088	0.0065	4.637e-05	0.0052	0.0052	0.0055	0.0049	0.0079	0.0049	0.0048	0.0073	0.0071	0.0015	0.0164	0.0047	0.0046	0.0002	0.0070	0.0034	0.0079	0.0043	0	0.284	0.15303	T	0.157	0.31730	T	0.132	0.27209	B	0.051	0.25434	B	0.001235	0.39743	N	0.275088	0.975465	0.25432	N	0.345	0.11182	N	-2.03	0.85613	D	-0.8	0.22078	N	0.08	0.05542	-0.7979	0.55268	T	0.278	0.64997	T	10	0.0036906898	0.00068	T	0.036831	0.57236	D	0.183	0.45592	.	.	0.465761423216	0.46202	0.45373068753569623	0.45291	0.223170420678	0.24844	0.439119488001	0.30456	T	0.007318	0.06733	T	-0.449038	0.01144	T	-0.404815	0.32825	T	0.00779006829084228	0.00091	T	0.718928	0.33194	T	0.04498551	0.07285	0.060124744	0.11399	0.04498551	0.07285	0.060124744	0.11398	-4.4	0.29557	T	.	.	0.084	0.09578	B	.	.	2.465473	0.31770	18.84	0.93624834729305562	0.23495	0.82750	0.41936	D	AEFBCI	0.153991	0.27894	N	-0.260158961341056	0.30700	1.714257	-0.0946376680620974	0.35611	2.062351	0.288647911704047	0.19063	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.86	3.17	0.35510	2.458000	0.44671	1.936000	0.29800	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0719:0.2414:0.6867	8.570	0.32722	720	0.55521	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	2617.33	47	chr10	117283947	.	T	G	2617.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.552;DP=1299;ExcessHet=0;FS=1.614;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.68;ReadPosRankSum=-0.103;SOR=0.744	GT:AD:DP:GQ:PL	0/1:122,102:224:99:2631,0,3375	18	0	1	0
chr10	117341050	117341050	C	G	exonic	PDZD8	.	nonsynonymous SNV	PDZD8:NM_173791:exon2:c.G925C:p.E309Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.219	0.115356928521	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	0.33585	T	0.227	0.25362	T	0.361	0.33905	B	0.068	0.27651	B	0.100580	0.19880	N	0.530412	0.72942	0.33703	D	1.04	0.26193	L	-2.02	0.85542	D	-0.26	0.11185	N	0.307	0.34659	-0.2578	0.76147	T	0.382	0.73862	T	10	0.1287536	0.24493	T	0.115357	0.79451	D	0.219	0.51417	0.262	0.20631	0.41089407703	0.40707	0.32572278031787566	0.32485	0.733746948318	0.62856	0.471481502056	0.34884	T	0.004072	0.03483	T	-0.0192899	0.48954	T	-0.265485	0.48274	T	0.299490293607814	0.24983	T	0.535046	0.17917	T	0.10697685	0.25296	0.07411807	0.16179	0.10697685	0.25296	0.07411807	0.16178	-4.109	0.25423	T	.	.	0.137	0.29833	B	.	.	2.687011	0.35067	19.80	0.99215066277239283	0.55716	0.83537	0.42647	D	AEFBI	0.436196	0.49651	N	0.0261702783483278	0.43048	2.605428	0.215140493430459	0.50686	3.258188	0.999999995606444	0.74766	0.706298	0.61202	0	0.708844	0.79440	0	0.688494	0.62686	0	0.613276	0.41899	0	.	.	5.68	5.68	0.88021	2.759000	0.47253	7.612000	0.61951	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	15.630	0.76655	723	0.55174	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1176	1457.48	127	chr10	117341050	.	C	G	1457.48	.	AC=4;AF=0.118;AN=34;BaseQRankSum=-4.099;DP=1718;ExcessHet=4.0268;FS=278.265;InbreedingCoeff=-0.3117;MLEAC=4;MLEAF=0.118;MQ=60;MQRankSum=0;QD=1.56;ReadPosRankSum=1.31;SOR=9.974	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:68,38:106:99:0|1:117341048_C_T:257,0,1824:117341048	13	0	4	2
chr10	124484276	124484276	G	T	exonic	LHPP	.	nonsynonymous SNV	LHPP:NM_001167880:exon2:c.G263T:p.C88F,LHPP:NM_001318331:exon2:c.G263T:p.C88F,LHPP:NM_001318332:exon2:c.G263T:p.C88F,LHPP:NM_022126:exon2:c.G263T:p.C88F	.	417	1104	1	0	0	1	0.000452694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.0116148384828	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.25154	T	0.215	0.39799	T	0.975	0.58077	D	0.453	0.46205	P	0.012935	0.29007	N	0.361627	0.925501	0.36807	D	2.045	0.56016	M	2.01	0.21291	T	-3.14	0.64019	D	0.49	0.52829	-1.0673	0.10017	T	0.048	0.20474	T	10	0.21734202	0.38343	T	0.011615	0.29407	T	0.074	0.21613	0.514	0.61307	0.365703291355	0.36175	0.8142652245602654	0.81382	0.664560918169	0.59094	0.425012528896	0.28526	T	0.013387	0.11587	T	-0.0921113	0.37728	T	-0.370088	0.36879	T	0.96986323595047	0.68743	D	0.934107	0.75346	D	0.7687295	0.81972	0.5289093	0.72781	0.7687295	0.81973	0.5289093	0.72781	-14.739	0.96328	D	.	.	0.243	0.52704	B	.;.;.	.;.;.	3.666615	0.52120	23.2	0.98017380963567591	0.37605	0.82275	0.41527	D	AEFDGBI	0.370059	0.45657	N	0.0206793420780246	0.42794	2.585358	0.0596414052815449	0.42539	2.574797	0.998252144779285	0.36648	0.706298	0.61202	0	0.659464	0.62310	0	0.709663	0.75317	0	0.699875	0.68795	0	.	.	4.46	3.55	0.39770	3.694000	0.54474	9.480000	0.80881	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.546000	0.30079	0.0:0.2987:0.7013:0.0	13.505	0.60935	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	.	.	.	.	.	.	.	.	0.02632	2147.33	37	chr10	124484276	.	G	T	2147.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.49;DP=748;ExcessHet=0;FS=1.383;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.27;ReadPosRankSum=-0.085;SOR=0.833	GT:AD:DP:GQ:PL	0/1:59,73:132:99:2161,0,1489	18	0	1	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	.	.	.	.	.	.	.	.	0.4211	5963.25	35	chr10	124994489	.	T	G	5963.25	.	AC=16;AF=0.421;AN=38;BaseQRankSum=2.41;DP=2809;ExcessHet=25.4433;FS=26.988;InbreedingCoeff=-0.7286;MLEAC=16;MLEAF=0.421;MQ=58.25;MQRankSum=-7.677;QD=2.44;ReadPosRankSum=-3.639;SOR=3.339	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:110,17:127:99:0|1:124994489_T_G:383,0,4559:124994489	3	0	16	0
chr10	124994501	124994501	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.C952T:p.H318Y,CTBP2:NM_022802:exon5:c.C2368T:p.H790Y,CTBP2:NM_001321013:exon6:c.C748T:p.H250Y,CTBP2:NM_001083914:exon7:c.C748T:p.H250Y,CTBP2:NM_001290214:exon7:c.C748T:p.H250Y,CTBP2:NM_001290215:exon7:c.C748T:p.H250Y,CTBP2:NM_001321012:exon7:c.C748T:p.H250Y,CTBP2:NM_001321014:exon7:c.C748T:p.H250Y,CTBP2:NM_001329:exon7:c.C748T:p.H250Y	.	426	821	272	3	0	278	0.144792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.771	0.0948171006631	.	.	.	.	.	.	.	.	.	.	.	.	.	rs978705792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.42487	T	0.297	0.31125	T	0.868	0.47740	P	0.617	0.54186	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.11	0.08516	N	-1.36	0.80125	T	-5.44	0.85541	D	0.915	0.92084	-0.1289	0.79427	T	0.435	0.77536	T	10	0.7908057	0.78643	D	0.094817	0.76319	D	0.771	0.92294	0.486	0.56939	0.919217431084	0.91840	0.9252807218489828	0.92505	1.25117579951	0.81802	0.887714266777	0.94973	D	0.545829	0.84532	D	0.352326	0.86659	D	0.268315	0.86483	D	0.94890558719635	0.62996	D	0.972303	0.89961	D	0.826035	0.85629	0.7361207	0.84404	0.826035	0.85631	0.7361207	0.84405	-9.649	0.71784	D	.	.	0.781	0.76420	P	.;.;.;.;.;.	.;.;.;.;.;.	4.665783	0.74522	26.2	0.99760421591352766	0.85011	0.95027	0.63172	D	AEFDGBCI	0.931287	0.91988	D	0.465501566800638	0.65087	4.778689	0.565123419115292	0.72454	5.812716	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	7.771000	0.84203	11.823000	0.97298	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	8869.86	35	chr10	124994501	.	G	A	8869.86	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-1.103;DP=3037;ExcessHet=31.086;FS=31.76;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=57.66;MQRankSum=-6.926;QD=3.22;ReadPosRankSum=-2.916;SOR=3.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:126,23:149:99:0|1:124994489_T_G:587,0,5129:124994489	2	0	17	0
chr10	124994505	124994505	A	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.T948A:p.H316Q,CTBP2:NM_022802:exon5:c.T2364A:p.H788Q,CTBP2:NM_001321013:exon6:c.T744A:p.H248Q,CTBP2:NM_001083914:exon7:c.T744A:p.H248Q,CTBP2:NM_001290214:exon7:c.T744A:p.H248Q,CTBP2:NM_001290215:exon7:c.T744A:p.H248Q,CTBP2:NM_001321012:exon7:c.T744A:p.H248Q,CTBP2:NM_001321014:exon7:c.T744A:p.H248Q,CTBP2:NM_001329:exon7:c.T744A:p.H248Q	.	423	816	278	5	0	288	0.15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.476	0.0731369313184	.	.	.	.	.	.	.	.	.	.	.	.	.	rs937366751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	0.46513	D	0.259	0.44702	T	0.682	0.41464	P	0.219	0.43945	B	0.000000	0.84330	D	0.000000	0.999904	0.50806	D	-0.715	0.01801	N	-1.26	0.79176	T	-6.79	0.93135	D	0.687	0.70000	-0.8006	0.55109	T	0.184	0.53255	T	10	0.5356107	0.63429	D	0.073137	0.71713	D	0.476	0.76816	0.447	0.50629	0.947376611969	0.94682	0.8013614072212495	0.80090	0.902566627065	0.70693	0.888023793697	0.95012	D	0.559992	0.85254	D	0.155552	0.69787	D	-0.0143363	0.69401	D	0.887895047664642	0.53844	D	0.743426	0.36288	T	0.90044665	0.91423	0.7164848	0.83265	0.90044665	0.91424	0.7164848	0.83266	-12.552	0.89160	D	.	.	0.886	0.85521	P	.;.;.;.;.;.	.;.;.;.;.;.	3.763339	0.54010	23.4	0.97895156658106663	0.36704	0.72838	0.35639	D	AEFDGBCI	0.464485	0.51296	N	-0.261912955812249	0.30631	1.70973	-0.146100228405978	0.33558	1.920874	0.999999244525417	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	1.37	0.21200	1.883000	0.39293	2.678000	0.33996	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.5559:0.0:0.4441:0.0	8.31	0.31226	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4474	9100.86	35	chr10	124994505	.	A	T	9100.86	.	AC=17;AF=0.447;AN=38;BaseQRankSum=2.29;DP=3109;ExcessHet=31.086;FS=32.046;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=57.53;MQRankSum=-6.856;QD=3.31;ReadPosRankSum=-2.157;SOR=3.807	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:126,24:150:99:0|1:124994489_T_G:595,0,5100:124994489	2	0	17	0
chr10	124994530	124994530	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.C923T:p.S308F,CTBP2:NM_022802:exon5:c.C2339T:p.S780F,CTBP2:NM_001321013:exon6:c.C719T:p.S240F,CTBP2:NM_001083914:exon7:c.C719T:p.S240F,CTBP2:NM_001290214:exon7:c.C719T:p.S240F,CTBP2:NM_001290215:exon7:c.C719T:p.S240F,CTBP2:NM_001321012:exon7:c.C719T:p.S240F,CTBP2:NM_001321014:exon7:c.C719T:p.S240F,CTBP2:NM_001329:exon7:c.C719T:p.S240F	.	421	688	403	10	0	423	0.235131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.938	0.47632593724	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs374871777	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.59928	D	0.001	0.83351	D	1.0	0.90584	D	0.993	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.465	0.71551	M	-1.61	0.82254	D	-5.08	0.82896	D	0.976	0.98657	0.694	0.93099	D	0.759	0.91795	D	10	0.9291788	0.92260	D	0.476326	0.94766	D	0.938	0.98636	0.718	0.85319	0.963037453765	0.96263	0.9856555258906051	0.98558	2.08621322631	0.94675	0.860175311565	0.91136	D	0.733508	0.92560	D	0.422049	0.91127	D	0.368468	0.91016	D	0.994980752468109	0.86633	D	0.836416	0.50788	T	0.98504084	0.99469	0.92532665	0.96770	0.98504084	0.99469	0.92532665	0.96771	-14.995	0.96879	D	.	.	0.993	0.95154	P	.;.;.;.;.;.	.;.;.;.;.;.	5.187974	0.87005	29.1	0.99852028210273314	0.93102	0.95134	0.63563	D	AEFDGBCI	0.931287	0.91988	D	0.925236055449727	0.92941	11.72177	0.873600535312142	0.94317	12.66702	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	9.602000	0.97623	11.823000	0.97298	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4737	13165.0	224	chr10	124994530	.	G	A	13165.0	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.518;DP=3717;ExcessHet=38.2876;FS=52.691;InbreedingCoeff=-0.9045;MLEAC=18;MLEAF=0.474;MQ=56.99;MQRankSum=-6.295;QD=4.31;ReadPosRankSum=1.03;SOR=4.688	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:142,32:174:99:0|1:124994523_G_A:853,0,5631:124994523	1	0	18	0
chr10	124994542	124994542	C	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.G911A:p.S304N,CTBP2:NM_022802:exon5:c.G2327A:p.S776N,CTBP2:NM_001321013:exon6:c.G707A:p.S236N,CTBP2:NM_001083914:exon7:c.G707A:p.S236N,CTBP2:NM_001290214:exon7:c.G707A:p.S236N,CTBP2:NM_001290215:exon7:c.G707A:p.S236N,CTBP2:NM_001321012:exon7:c.G707A:p.S236N,CTBP2:NM_001321014:exon7:c.G707A:p.S236N,CTBP2:NM_001329:exon7:c.G707A:p.S236N	.	418	797	293	14	0	321	0.167624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.881	0.520636706354	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs78155918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.004	0.79402	D	0.994	0.66517	D	0.972	0.72692	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.19	0.88972	M	-1.86	0.84341	D	-2.9	0.61580	D	0.951	0.95956	0.923	0.96008	D	0.835	0.94461	D	10	0.96767014	0.96284	D	0.520637	0.95441	D	0.881	0.96502	0.859	0.95718	0.8508886717	0.84945	0.9945051231415541	0.99447	1.72531923595	0.90642	0.895219087601	0.95893	D	0.849948	0.96576	D	0.195726	0.73494	D	0.04337	0.73148	D	0.993175552752073	0.83871	D	0.98969	0.96662	D	0.9860643	0.99535	0.9414922	0.97865	0.9860643	0.99535	0.9414922	0.97866	-14.163	0.96648	D	.	.	0.990	0.93538	P	.;.;.;.;.;.	.;.;.;.;.;.	4.768549	0.77163	26.6	0.99793032458852304	0.87839	0.92617	0.56134	D	AEFDGBCI	0.921115	0.89410	D	0.951529578297244	0.94047	12.46209	0.869409228877299	0.94098	12.50256	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	7.568000	0.81546	7.667000	0.64568	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:1.0:0.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4722	6669.77	218	chr10	124994542	.	C	T	6669.77	.	AC=17;AF=0.472;AN=36;BaseQRankSum=-2.167;DP=3803;ExcessHet=31.086;FS=61.277;InbreedingCoeff=-0.8537;MLEAC=18;MLEAF=0.5;MQ=56.82;MQRankSum=-6.243;QD=2.29;ReadPosRankSum=2.29;SOR=5.37	GT:AD:DP:GQ:PL	0/1:147,35:182:99:513,0,4364	1	0	17	1
chr10	124994563	124994563	A	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.T890A:p.L297Q,CTBP2:NM_022802:exon5:c.T2306A:p.L769Q,CTBP2:NM_001321013:exon6:c.T686A:p.L229Q,CTBP2:NM_001083914:exon7:c.T686A:p.L229Q,CTBP2:NM_001290214:exon7:c.T686A:p.L229Q,CTBP2:NM_001290215:exon7:c.T686A:p.L229Q,CTBP2:NM_001321012:exon7:c.T686A:p.L229Q,CTBP2:NM_001321014:exon7:c.T686A:p.L229Q,CTBP2:NM_001329:exon7:c.T686A:p.L229Q	.	408	769	327	18	0	363	0.190952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.960	0.547155886187	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs150320719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.017	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	2.835	0.82492	M	-1.85	0.84267	D	-5.78	0.88699	D	0.932	0.93841	0.754	0.93845	D	0.782	0.92582	D	10	0.9727028	0.96922	D	0.547156	0.95809	D	0.960	0.99376	0.857	0.95604	0.951774941741	0.95126	0.9701566259621512	0.97004	2.04308220201	0.94282	0.848910570145	0.89450	D	0.853663	0.96692	D	0.45783	0.92829	D	0.419864	0.92740	D	0.999412894248962	0.97310	D	0.830117	0.49576	T	0.9576254	0.97040	0.9405844	0.97806	0.9576254	0.97041	0.9405844	0.97806	-13.719	0.92108	D	.	.	0.992	0.94272	P	.;.;.;.;.;.	.;.;.;.;.;.	5.061375	0.84364	28.3	0.99631799569558666	0.76081	0.94544	0.61510	D	AEFDGBCI	0.948042	0.95924	D	0.879361810884359	0.90712	10.53043	0.831570877214738	0.91895	11.12529	0.999999999999983	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.42	5.42	0.78666	8.947000	0.92735	11.208000	0.89295	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.466	0.75135	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	6662.69	214	chr10	124994563	.	A	T	6662.69	.	AC=18;AF=0.5;AN=36;BaseQRankSum=-2.888;DP=3853;ExcessHet=38.2876;FS=70.258;InbreedingCoeff=-0.9487;MLEAC=19;MLEAF=0.528;MQ=56.72;MQRankSum=-6.4;QD=2.12;ReadPosRankSum=3.59;SOR=5.482	GT:AD:DP:GQ:PL	0/1:152,39:191:99:536,0,4494	0	0	18	1
chr10	124994577	124994577	C	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.G876T:p.Q292H,CTBP2:NM_022802:exon5:c.G2292T:p.Q764H,CTBP2:NM_001321013:exon6:c.G672T:p.Q224H,CTBP2:NM_001083914:exon7:c.G672T:p.Q224H,CTBP2:NM_001290214:exon7:c.G672T:p.Q224H,CTBP2:NM_001290215:exon7:c.G672T:p.Q224H,CTBP2:NM_001321012:exon7:c.G672T:p.Q224H,CTBP2:NM_001321014:exon7:c.G672T:p.Q224H,CTBP2:NM_001329:exon7:c.G672T:p.Q224H	.	408	580	516	18	0	552	0.32243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.696	0.0892909269972	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs80025996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.63226	D	0.087	0.69154	T	0.964	0.68779	D	0.898	0.69447	P	0.000000	0.84330	D	0.000000	0.999957	0.58761	D	0.49	0.13296	N	-1.71	0.83815	D	-3.39	0.66896	D	0.743	0.76111	0.130	0.84714	D	0.526	0.82375	D	10	0.69303375	0.71973	D	0.089291	0.75298	D	0.696	0.89007	0.404	0.43573	0.949204094444	0.94866	0.8408413105034186	0.84044	1.71814521226	0.90529	0.835075438023	0.87341	D	0.524087	0.83410	D	0.323687	0.84732	D	0.227177	0.84532	D	0.984627544879913	0.75871	D	0.969203	0.88895	D	0.8669297	0.88620	0.72212815	0.83591	0.8669297	0.88622	0.72212815	0.83592	-9.982	0.77738	D	.	.	0.579	0.68002	P	.;.;.;.;.;.	.;.;.;.;.;.	4.008335	0.59116	24.1	0.99735057696966967	0.83047	0.87870	0.47561	D	AEFDGBCI	0.735142	0.68105	D	0.394708730247093	0.61135	4.310599	0.421330055103997	0.62895	4.513037	0.999999999997443	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.42	4.51	0.54589	3.891000	0.55940	4.055000	0.41540	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.9224:0.0:0.0776	13.270	0.59589	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	18811.3	222	chr10	124994577	.	C	A	18811.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-4.155;DP=3962;ExcessHet=48.2876;FS=72.251;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=56.8;MQRankSum=-6.921;QD=5.38;ReadPosRankSum=2.92;SOR=5.081	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:153,39:192:99:0|1:124994577_C_A:1146,0,6230:124994577	0	0	19	0
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	.	.	.	.	.	.	.	.	0.2857	1771.33	259	chr10	124998077	.	C	G	1771.33	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-1.647;DP=3498;ExcessHet=0.7564;FS=15.58;InbreedingCoeff=-0.3571;MLEAC=7;MLEAF=0.5;MQ=58.22;MQRankSum=-8.756;QD=2.49;ReadPosRankSum=1.42;SOR=2.216	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:168,18:186:99:0|1:124998077_C_G:250,0,6895:124998077	3	0	4	12
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	.	.	.	.	.	.	.	.	0.2857	1753.33	256	chr10	124998080	.	G	C	1753.33	.	AC=4;AF=0.286;AN=14;BaseQRankSum=0.292;DP=3518;ExcessHet=0.7564;FS=15.576;InbreedingCoeff=-0.3571;MLEAC=7;MLEAF=0.5;MQ=58.22;MQRankSum=-8.729;QD=2.45;ReadPosRankSum=1.75;SOR=2.218	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:165,18:183:99:0|1:124998077_C_G:259,0,6829:124998077	3	0	4	12
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	.	.	.	.	.	.	.	.	0.2857	1799.33	255	chr10	124998087	.	T	C	1799.33	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-1.812;DP=3535;ExcessHet=0.7564;FS=15.501;InbreedingCoeff=-0.3571;MLEAC=7;MLEAF=0.5;MQ=58.2;MQRankSum=-8.764;QD=2.51;ReadPosRankSum=3.16;SOR=2.25	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:170,18:188:99:0|1:124998077_C_G:244,0,7084:124998077	3	0	4	12
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	.	.	.	.	.	.	.	.	0.2857	1757.33	259	chr10	124998090	.	G	A	1757.33	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-0.557;DP=3577;ExcessHet=0.7564;FS=15.501;InbreedingCoeff=-0.3571;MLEAC=7;MLEAF=0.5;MQ=58.23;MQRankSum=-8.835;QD=2.41;ReadPosRankSum=3.64;SOR=2.25	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:177,18:195:99:0|1:124998077_C_G:223,0,7343:124998077	3	0	4	12
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	.	.	.	.	.	.	.	.	0.2857	1780.33	276	chr10	124998111	.	A	C	1780.33	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-1.781;DP=3589;ExcessHet=0.7564;FS=15.168;InbreedingCoeff=-0.3571;MLEAC=7;MLEAF=0.5;MQ=58.23;MQRankSum=-8.882;QD=2.46;ReadPosRankSum=4.79;SOR=2.166	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:167,18:185:99:0|1:124998111_A_C:253,0,6947:124998111	3	0	4	12
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	.	.	.	.	.	.	.	.	0.2857	1759.33	274	chr10	124998113	.	A	G	1759.33	.	AC=4;AF=0.286;AN=14;BaseQRankSum=0.006;DP=3601;ExcessHet=0.7564;FS=15.272;InbreedingCoeff=-0.3571;MLEAC=7;MLEAF=0.5;MQ=58.23;MQRankSum=-8.929;QD=2.41;ReadPosRankSum=4.27;SOR=2.194	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:170,18:188:99:0|1:124998111_A_C:244,0,7073:124998111	3	0	4	12
chr10	132104863	132104863	G	A	exonic	JAKMIP3	.	nonsynonymous SNV	JAKMIP3:NM_001105521:exon2:c.G55A:p.A19T,JAKMIP3:NM_001323086:exon2:c.G55A:p.A19T,JAKMIP3:NM_001323087:exon2:c.G55A:p.A19T,JAKMIP3:NM_001323088:exon2:c.G55A:p.A19T,JAKMIP3:NM_001323089:exon2:c.G55A:p.A19T,JAKMIP3:NM_001323090:exon2:c.G55A:p.A19T	.	408	1112	2	0	0	2	0.000898473	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.00605322321664	.	.	4.48e-05	0	0	0	0	0	0	0.0001	1.94e-05	3	154602	rs765693147	9.939e-06	1.368e-05	9.819e-06	1.006e-05	0.0002	5.77e-06	4.51e-06	1e-05	4.77e-06	3.125e-05	0	0	2.747e-05	0	0.0002	6.452e-06	1.71e-05	3.765e-05	1.314e-05	1.313e-05	2.569e-05	0	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.499	0.07772	T	0.307	0.19908	T	0.002	0.09854	B	0.002	0.06944	B	0.000001	0.84330	D	0.000000	0.999989	0.18198	N	1.39	0.34934	L	1.86	0.24285	T	-0.64	0.18670	N	0.135	0.13198	-1.0264	0.21625	T	0.043	0.18618	T	10	0.07264179	0.10872	T	0.006053	0.15816	T	0.114	0.32008	.	.	0.0666544352282	0.05500	0.8148695801787221	0.81442	0.471021578582	0.46365	0.651057720184	0.60135	T	0.024407	0.18448	T	-0.42014	0.01706	T	-0.60461	0.12426	T	0.194356456398964	0.20098	T	0.826617	0.49005	T	0.06560541	0.14038	0.08223237	0.18752	0.06560541	0.14038	0.08223237	0.18752	-5.631	0.43075	T	.	.	0.088	0.11654	B	.	.	3.019833	0.40410	21.2	0.9706038903948645	0.32192	0.59967	0.31062	D	AEFDGBI	0.073381	0.14677	N	-0.625797173281996	0.18173	0.9413152	-0.583639719168838	0.19920	1.070906	0.0101837842338297	0.11981	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	3.8	1.88	0.24630	4.302000	0.58887	1.535000	0.27187	0.604000	0.46097	1.000000	0.71638	0.046000	0.21717	0.554000	0.30269	0.1919:0.0:0.8081:0.0	9.031	0.35422	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	.	.	.	.	.	.	.	.	0.02632	1413.33	37	chr10	132104863	.	G	A	1413.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.85;DP=728;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.53;ReadPosRankSum=1.27;SOR=0.773	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:41,50:91:99:0|1:132104863_G_A:1427,0,1571:132104863	18	0	1	0
chr10	133129347	133129347	G	A	exonic	ADGRA1	.	nonsynonymous SNV	ADGRA1:NM_001291085:exon4:c.G1228A:p.G410R,ADGRA1:NM_001083909:exon7:c.G1519A:p.G507R	.	.	.	.	.	.	.	.	.	.	.	3237390	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.074	0.0181295035843	.	.	6.365e-05	0	0	0.0010	0	0	0	0	2.59e-05	4	154602	rs748890339	1.048e-05	1.094e-05	1.387e-05	7.044e-06	9.196e-05	6.3e-06	4.99e-06	2.437e-05	1.275e-05	9.196e-05	0	0	5.301e-05	0	0	8.191e-06	0	1.206e-05	2.627e-05	2.626e-05	3.853e-05	1.345e-05	7.235e-05	8.14e-06	5.14e-06	1.918e-05	1.032e-05	7.235e-05	0	0	0	0	0	0	1.47e-05	0	0	0.137	0.25979	T	0.017	0.60337	D	0.5	0.37145	P	0.179	0.35808	B	0.836954	0.09063	N	0.899723	1	0.08975	N	.	.	.	3.76	0.13916	T	-1.36	0.33798	N	0.042	0.03502	-1.0405	0.17162	T	0.021	0.09101	T	10	0.07022217	0.10186	T	0.01813	0.40089	T	0.074	0.21613	0.162	0.06618	0.043077524339	0.03247	0.28489463767761086	0.28402	0.490490125762	0.47770	0.740803360939	0.73091	T	0.078051	0.35799	T	-0.429698	0.01489	T	-0.599962	0.12816	T	0.11767765134573	0.14201	T	0.579842	0.20971	T	0.04710474	0.07998	0.14507586	0.34421	0.04710474	0.07997	0.14507586	0.34420	-4.376	0.29230	T	.	.	0.476	0.63471	A	.;.;.	.;.;.	1.678264	0.21391	15.18	0.97378305404264021	0.33656	0.42204	0.26826	N	AEFDBI	0.211881	0.33762	N	-0.274040743238005	0.30153	1.678739	-0.289936641615558	0.28428	1.585074	0.301738726576346	0.19196	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.33	3.35	0.37468	1.294000	0.32971	6.160000	0.54327	-0.182000	0.10109	0.269000	0.25036	1.000000	0.68203	0.001000	0.02609	0.0:0.2964:0.7036:0.0	11.491	0.49631	994	0.00715	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1698.33	33	chr10	133129347	.	G	A	1698.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.28;DP=975;ExcessHet=0;FS=4.475;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.15;ReadPosRankSum=-1.328;SOR=0.404	GT:AD:DP:GQ:PL	0/1:59,61:120:99:1712,0,1423	18	0	1	0
chr10	133167414	133167414	C	T	exonic	KNDC1	.	nonsynonymous SNV	KNDC1:NM_001347864:exon2:c.C136T:p.R46W,KNDC1:NM_001347865:exon2:c.C136T:p.R46W,KNDC1:NM_001347866:exon2:c.C136T:p.R46W,KNDC1:NM_152643:exon2:c.C136T:p.R46W	.	416	1104	2	0	0	2	0.000904977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.391	.	0.0057	0.00159744	0.0113	0.0028	0.0079	0	0.0308	0.0174	0.0157	0.0015	0.0057826	894	154602	rs145440398	0.0097	0.0097	0.0100	0.0095	0.0114	0.0096	0.0095	0.0112	0.0111	0.0014	0.0034	0.0028	2.552e-05	0.0139	0.0010	0.0114	0.0074	0.0009	0.0067	0.0067	0.0067	0.0067	0.0106	0.0064	0.0062	0.0100	0.0097	0.0021	0.0022	0.0027	0.0029	0.0004	0.0138	0	0.0106	0.0052	0.0004	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.995	0.83170	D	0.000273	0.46590	D	0.000000	0.992497	0.81001	D	.	.	.	1.57	0.29342	T	-5.65	0.86988	D	0.8	0.79599	-0.8622	0.51104	T	0.128	0.43585	T	10	0.01328823	0.00282	T	.	.	.	0.391	0.70684	.	.	0.364342057095	0.36045	0.8020639365443952	0.80160	0.662220872805	0.58961	0.863450467587	0.91619	D	0.522209	0.83312	D	-0.252946	0.13739	T	-0.124439	0.61435	T	0.0252181224863887	0.01302	T	0.942106	0.78341	D	0.75923353	0.81408	0.5774754	0.75517	0.75923353	0.81409	0.5774754	0.75518	-9.268	0.69406	D	.	.	0.528	0.65820	A	.	.	4.296847	0.65572	24.8	0.9989521313216736	0.96819	0.93995	0.59797	D	AEFDBIJ	0.623685	0.60754	D	0.364838542316216	0.59526	4.132898	0.237089382617845	0.51918	3.370348	0.998920554403203	0.37985	0.718356	0.82227	0	0.547309	0.14657	0	0.570548	0.19454	0	0.567892	0.33627	0	.	.	4.05	3.1	0.34780	3.663000	0.54256	1.271000	0.25291	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.316000	0.24877	0.1929:0.8071:0.0:0.0	10.704	0.45143	994	0.00715	KIND domain|KIND domain|KIND domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001521	0.000000	0.001362	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1379.33	39	chr10	133167414	.	C	T	1379.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.651;DP=763;ExcessHet=0;FS=2.058;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.91;ReadPosRankSum=-0.874;SOR=0.481	GT:AD:DP:GQ:PL	0/1:28,49:77:99:1393,0,684	18	0	1	0
chr11	400024	400024	C	T	exonic	PKP3	.	nonsynonymous SNV	PKP3:NM_007183:exon6:c.C1331T:p.T444M,PKP3:NM_001303029:exon7:c.C1376T:p.T459M	.	423	1079	19	1	0	21	0.00963745	.	.	.	3886627	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.243	.	0.0074	0.0071885	0.0101	0.0038	0.0096	0	0.0161	0.0125	0.0172	0.0080	0.0074061	1145	154602	rs151201080	0.0096	0.0096	0.0098	0.0095	0.0130	0.0095	0.0095	0.0104	0.0104	0.0018	0.0077	0.0041	0	0.0119	0.0130	0.0106	0.0094	0.0061	0.0074	0.0074	0.0075	0.0072	0.0109	0.0070	0.0069	0.0103	0.0100	0.0019	0.0033	0.0093	0.0055	0.0002	0.0092	0.0034	0.0109	0.0090	0.0037	0.002	0.72154	D	0.005	0.72224	D	1.0	0.90584	D	0.925	0.65999	D	0.000016	0.62929	U	0.066416	0.99842	0.44899	D	1.955	0.52871	M	0.78	0.49358	T	-2.24	0.50175	N	0.778	0.77507	-0.6833	0.61220	T	0.136	0.45164	T	10	0.009129167	0.00206	T	.	.	.	0.243	0.54921	.	.	0.727257869051	0.72483	0.5972029706985712	0.59651	0.419819143065	0.42524	0.769279301167	0.77316	T	0.258324	0.62947	T	-0.358292	0.04227	T	-0.279476	0.46858	T	0.0186109962534885	0.00575	T	0.919808	0.70989	D	0.18480209	0.39812	0.21133934	0.45558	0.18480209	0.39811	0.21133934	0.45557	-5.307	0.40012	T	.	.	0.326	0.54926	B	.	.	4.638468	0.73819	26.1	0.99898403714163153	0.97048	0.94407	0.61067	D	AEFDBI	0.476224	0.51973	N	0.438484043992529	0.63552	4.591233	0.365264395701364	0.59433	4.121001	0.974547197406394	0.29552	0.718356	0.82227	0	0.547309	0.14657	0	0.570548	0.19454	0	0.620976	0.48614	0	.	.	4.19	4.19	0.48645	2.464000	0.44724	5.758000	0.49667	0.575000	0.29119	0.977000	0.34929	1.000000	0.68203	0.864000	0.41028	0.0:1.0:0.0:0.0	16.942	0.86090	895	0.25842	.	.	.	CDHR5	Colon_Transverse	.	Likely benign	0	0	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	0.016162	0.025510	0.010929	0.014793	0.000000	0.025862	0.009202	0.015152	0.02632	1955.33	36	chr11	400024	.	C	T	1955.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.66;DP=717;ExcessHet=0;FS=5.528;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=21.73;ReadPosRankSum=-0.568;SOR=1.358	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:38,52:90:99:0|1:400024_C_T:1969,0,1378:400024	18	0	1	0
chr11	541600	541600	C	A	exonic	LRRC56	.	nonsynonymous SNV	LRRC56:NM_198075:exon5:c.C241A:p.R81S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.00681151478796	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.98e-07	4.104e-06	0	1.405e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.691e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.328	0.13219	T	0.195	0.28032	T	0.748	0.43202	P	0.221	0.37837	B	0.004888	0.33292	N	0.285799	0.973242	0.25557	N	2.585	0.75554	M	2.93	0.09822	T	-1.88	0.43906	N	0.416	0.45615	-1.0344	0.19046	T	0.027	0.11707	T	10	0.16255999	0.30463	T	0.006812	0.18010	T	0.087	0.25287	0.469	0.54214	0.231873229951	0.22792	0.5046357157893145	0.50385	.	.	0.269790500402	0.06114	T	0.004682	0.04092	T	-0.171484	0.25011	T	-0.484101	0.24010	T	0.866464376449585	0.51653	D	0.850615	0.53448	D	0.15571983	0.35180	0.104326405	0.25053	0.15571983	0.35179	0.104326405	0.25053	-9.949	0.73606	D	0.6264384898530287	0.69535	0.252	0.48685	B	.	.	3.849282	0.55755	23.6	0.99412254002930789	0.63358	0.32518	0.24605	N	AEFBI	0.161850	0.28795	N	-0.0945185241750075	0.37632	2.192235	-0.146205134174997	0.33553	1.920603	0.99999986183666	0.74766	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	4.66	4.66	0.57857	0.523000	0.22632	7.451000	0.58961	0.549000	0.26987	0.000000	0.06391	0.922000	0.28345	0.401000	0.26804	0.1985:0.8015:0.0:0.0	10.184	0.42162	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	.	.	.	.	.	.	.	.	0.02632	912.33	33	chr11	541600	.	C	A	912.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.868;DP=687;ExcessHet=0;FS=0.995;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.46;ReadPosRankSum=1.48;SOR=0.556	GT:AD:DP:GQ:PL	0/1:24,35:59:99:926,0,520	18	0	1	0
chr11	598481	598481	G	T	exonic	PHRF1	.	nonsynonymous SNV	PHRF1:NM_001286581:exon9:c.G1003T:p.A335S,PHRF1:NM_001286582:exon9:c.G1000T:p.A334S,PHRF1:NM_001286583:exon9:c.G991T:p.A331S,PHRF1:NM_020901:exon9:c.G1003T:p.A335S	.	430	1068	23	1	0	25	0.0115687	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	.	0.0020	0.00319489	0.0038	0.0005	0.0017	0	0.0015	0.0038	0.0108	0.0089	0.0030336	469	154602	rs182144037	0.0024	0.0024	0.0022	0.0027	0.0079	0.0024	0.0023	0.0074	0.0072	0.0012	0.0024	0.0253	0	0.0015	0.0075	0.0015	0.0040	0.0079	0.0024	0.0024	0.0023	0.0024	0.0093	0.0022	0.0021	0.0072	0.0064	0.0004	0	0.0033	0.0271	0	0.0006	0.0170	0.0020	0.0052	0.0093	0.051	0.39575	T	0.725	0.05309	T	0.031	0.22494	B	0.03	0.27432	B	0.313922	0.14385	N	0.573541	1	0.08975	N	1.1	0.28011	L	1.09	0.39223	T	-0.74	0.21644	N	0.188	0.28264	-1.0002	0.29860	T	0.100	0.37162	T	10	0.003364265	0.00059	T	.	.	.	0.025	0.05312	.	.	0.082315109003	0.07666	0.17073126093402924	0.16993	0.32569096242	0.34714	0.217391163111	0.01165	T	0.014587	0.12389	T	-0.606328	0.00133	T	-0.638879	0.09751	T	0.0125171626056827	0.00207	T	0.782722	0.41876	T	0.032968257	0.03424	0.041725293	0.04809	0.032968257	0.03423	0.041725293	0.04809	-3.498	0.16459	T	.	.	0.081	0.08465	B	.;.;.;.	.;.;.;.	0.306796	0.06821	3.346	0.97020328205897921	0.32022	0.17388	0.19815	N	AEFDBI	0.119556	0.23330	N	-0.819869099762579	0.12803	0.6264517	-0.874341538837182	0.12703	0.6550143	0.0837766092060231	0.15937	0.706548	0.73137	0	0.702456	0.74545	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	4.63	2.75	0.31439	-0.179000	0.09761	0.037000	0.13814	-0.103000	0.15852	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2735:0.0:0.7265:0.0	7.802	0.28342	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	0.006546	0.000000	0.004076	0.005848	0.000000	0.008621	0.009146	0.015152	0.02632	1233.33	38	chr11	598481	.	G	T	1233.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.29;DP=749;ExcessHet=0;FS=6.215;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.75;ReadPosRankSum=0.553;SOR=1.275	GT:AD:DP:GQ:PL	0/1:57,48:105:99:1247,0,1446	18	0	1	0
chr11	640099	640099	A	C	exonic	DRD4	.	nonsynonymous SNV	DRD4:NM_000797:exon3:c.A850C:p.S284R	Autonomic nervous system dysfunction (3)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.0368788643789	.	.	.	.	.	.	.	.	.	.	8.41e-05	13	154602	rs34662058	0.0008	0.0010	0.0008	0.0008	0.0031	0.0008	0.0007	0.0026	0.0024	0.0001	0.0007	8.304e-05	0.0012	0.0012	0.0004	0.0007	0.0015	0.0031	0.0006	0.0007	0.0006	0.0006	0.0044	0.0005	0.0004	0.0025	0.0020	0.0001	0	9.837e-05	0	0.0012	0.0002	0.0056	0.0008	0.0008	0.0044	0.17	0.22833	T	0.526	0.10245	T	.	.	.	.	.	.	0.000208	0.00519	U	6.727460	1	0.08975	N	.	.	.	-0.33	0.68329	T	-0.41	0.14000	N	0.095	0.07535	-1.0407	0.17101	T	0.135	0.45049	T	7	0.028003752	0.00937	T	0.036879	0.57267	D	0.043	0.11576	0.303	0.27164	0.134241683229	0.13084	0.254554735221153	0.25369	0.316651290462	0.33919	0.540689110756	0.44542	T	.	.	.	-0.494721	0.00612	T	-0.59669	0.13091	T	0.278487324714661	0.24108	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.138	0.30157	B	.	.	-0.094129	0.03676	0.742	0.40471895611092856	0.02858	0.01508	0.04988	N	AEFBI	0.062402	0.11994	N	-1.27589728253844	0.03967	0.1782201	-1.50140471831192	0.02334	0.1071743	0.992365450282527	0.32813	0.59774	0.34471	0	0.514364	0.08380	0	0.606884	0.38211	0	0.63947	0.58350	0	.	.	0.664	-0.472	0.11511	-1.085000	0.03500	-1.087000	0.06371	-1.440000	0.01105	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.6696:0.0:0.3304:0.0	5.355	0.15359	929	0.16858	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	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2763.28	46	chr11	640099	.	A	C	2763.28	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.733;DP=486;ExcessHet=0.3441;FS=6.066;InbreedingCoeff=0.1244;MLEAC=1;MLEAF=0.026;MQ=59.98;MQRankSum=0;QD=17.83;ReadPosRankSum=0.978;SOR=1.187	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:13,17:30:99:0|1:640099_A_C:432,0,294:640099	18	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	0.02632	288.33	1025	chr11	1016833	.	G	T	288.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.36;DP=20369;ExcessHet=0;FS=1.08;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.07;MQRankSum=-6.481;QD=0.25;ReadPosRankSum=-1.903;SOR=0.822	GT:AD:DP:GQ:PL	0/1:1084,85:1169:99:302,0,45018	18	0	1	0
chr11	1017498	1017498	C	0	exonic	MUC6	.	.	.	.	7	56	24	0	139	163	0.176471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	18376.8	571	chr11	1017498	.	C	*	18376.8	.	AC=9;AF=0.25;AN=36;BaseQRankSum=-0.973;DP=12851;ExcessHet=31.086;FS=1.119;InbreedingCoeff=-0.8537;MLEAC=8;MLEAF=0.222;MQ=55.62;MQRankSum=-18.61;QD=1.81;ReadPosRankSum=5.2;SOR=0.599	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:434,132:711:99:.:.:4219,0,18042:.	9	0	9	1
chr11	1018228	1018228	G	0	exonic	MUC6	.	.	.	.	413	954	154	0	1	155	0.0746848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1562	1221.11	167	chr11	1018228	.	G	*	1221.11	.	AC=5;AF=0.156;AN=32;BaseQRankSum=1.31;DP=4229;ExcessHet=6.9875;FS=13.674;InbreedingCoeff=-0.4381;MLEAC=6;MLEAF=0.188;MQ=57.03;MQRankSum=-9.096;QD=0.53;ReadPosRankSum=-1.93;SOR=2.057	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:249,22:286:99:.:.:163,0,10522:.	11	0	5	3
chr11	1018290	1018290	G	A	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.C4511T:p.P1504L	.	414	746	107	2	253	364	0.0692452	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.00130114034182	.	.	0.0003	0.0006	0.0002	0.0001	0.0005	0.0003	0.0011	0	1.94e-05	3	154602	rs776891354	1.107e-05	3.01e-05	1.651e-05	5.562e-06	2.261e-05	6.55e-06	5.3e-06	8.17e-06	6.48e-06	0	2.261e-05	0	0	0	0	1.361e-05	0	0	0.0001	0.0098	0.0001	9.374e-05	0.0007	5.246e-05	3.934e-05	0.0001	5.226e-05	0.0001	0	0	0	0.0007	0	0	9.554e-05	0	0	0.087	0.32453	T	0.452	0.12884	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.805	0.20218	L	2.32	0.16640	T	-0.07	0.08033	N	0.067	0.03956	-1.0134	0.25848	T	0.014	0.05465	T	9	0.022066832	0.00542	T	0.001301	0.01809	T	0.004	0.00165	.	.	0.141422826196	0.13715	0.17699347360380507	0.17618	0.090681263109	0.10232	0.182567775249	0.00120	T	0.011815	0.10487	T	-0.418061	0.01760	T	-0.838292	0.01125	T	0.0714186060218739	0.08849	T	.	.	.	0.023426026	0.01081	0.02954413	0.01305	0.023426026	0.01081	0.02954413	0.01304	-3.396	0.15003	T	.	.	0.071	0.04041	B	.	.	-1.051810	0.00700	0.020	0.59025517677381145	0.06128	0.00427	0.02100	N	AEFDGBI	0.028602	0.02550	N	-2.28884873487817	0.00048	0.002069904	-2.37477325509698	0.00045	0.001973028	0.999941380871367	0.47345	0.69289	0.55638	0	0.550933	0.16991	0	0.517114	0.09559	2	0.508809	0.08732	0	.	.	2.41	-4.82	0.02938	-5.543000	0.00137	-20.000000	0.00162	-5.324000	0.00012	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3114:0.1979:0.3276:0.1631	0.642	0.00759	825	0.40060	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3684	8543.31	218	chr11	1018290	.	G	A	8543.31	.	AC=14;AF=0.368;AN=38;BaseQRankSum=4.18;DP=5186;ExcessHet=31.086;FS=18.111;InbreedingCoeff=-0.8095;MLEAC=14;MLEAF=0.368;MQ=55.27;MQRankSum=-8.441;QD=1.76;ReadPosRankSum=1.38;SOR=1.969	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:266,37:331:99:.:.:753,0,11058:.	5	0	14	0
chr11	1074916	1074916	A	G	exonic	MUC2	.	unknown	UNKNOWN	.	399	1112	10	1	0	12	0.00536673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.00159744	0.0041	0	0.0097	0	0	0.0011	0.0208	0.0086	0.0007568	117	154602	rs369470505	0.0006	0.0006	0.0004	0.0007	0.0053	0.0005	0.0005	0.0049	0.0047	3.501e-05	0.0007	4.25e-05	0	0.0001	0.0039	0.0002	0.0009	0.0053	0.0006	0.0006	0.0006	0.0006	0.0031	0.0005	0.0005	0.0020	0.0018	9.624e-05	0	0.0027	0	0	0	0	0.0005	0.0009	0.0031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002543	0.000000	0.001374	0.000000	0.000000	0.000000	0.000000	0.019231	0.02632	633.33	32	chr11	1074916	.	A	G	633.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.059;DP=668;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.77;ReadPosRankSum=-0.132;SOR=0.68	GT:AD:DP:GQ:PL	0/1:22,24:46:99:647,0,563	18	0	1	0
chr11	1095600	1095600	T	A	exonic	MUC2	.	unknown	UNKNOWN	.	568	942	10	2	0	14	0.00737619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1222385839	0.0047	0.0034	0.0045	0.0050	0.0150	0.0046	0.0045	0.0118	0.0107	0.0008	0.0083	0.0210	3.364e-05	0.0004	0.0150	0.0040	0.0070	0.0070	0.0043	0.0042	0.0044	0.0042	0.0101	0.0040	0.0039	0.0088	0.0082	0.0011	0	0.0101	0.0201	0	0.0003	0.0368	0.0046	0.0070	0.0058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2140.33	64	chr11	1095600	.	T	A	2140.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.354;DP=2503;ExcessHet=0;FS=3.789;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.63;ReadPosRankSum=0.167;SOR=1.022	GT:AD:DP:GQ:PL	0/1:79,78:157:99:2154,0,2060	18	0	1	0
chr11	1096155	1096155	C	0	exonic	MUC2	.	.	.	.	456	828	3	1	234	239	0.00301023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2647	1368.84	440	chr11	1096155	.	C	*	1368.84	.	AC=9;AF=0.265;AN=34;BaseQRankSum=2.27;DP=8782;ExcessHet=6.9875;FS=1.819;InbreedingCoeff=-0.4074;MLEAC=10;MLEAF=0.294;MQ=55.63;MQRankSum=-1.462;QD=0.48;ReadPosRankSum=-6.177;SOR=0.831	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:241,99:340:99:.:.:2713,0,9321:.	8	0	9	2
chr11	1096168	1096168	G	0	exonic	MUC2	.	.	.	.	1	110	14	0	101	115	0.0598291	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	2015.37	440	chr11	1096168	.	G	*	2015.37	.	AC=10;AF=0.263;AN=38;BaseQRankSum=1.61;DP=9016;ExcessHet=8.9063;FS=1.149;InbreedingCoeff=-0.4074;MLEAC=10;MLEAF=0.263;MQ=55.65;MQRankSum=2.2;QD=0.58;ReadPosRankSum=-1.711;SOR=0.808	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:241,99:340:99:.:.:2713,0,9321:.	9	0	10	0
chr11	1096170	1096212	TGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	0	exonic	MUC2	.	.	.	.	1	116	21	0	88	109	0.083004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	685.62	440	chr11	1096170	.	TGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	*	685.62	.	AC=9;AF=0.25;AN=36;BaseQRankSum=2.47;DP=8861;ExcessHet=6.9875;FS=1.838;InbreedingCoeff=-0.3818;MLEAC=9;MLEAF=0.25;MQ=57.05;MQRankSum=-2.059;QD=0.2;ReadPosRankSum=1.49;SOR=0.838	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:241,99:340:99:.:.:2713,0,9321:.	9	0	9	1
chr11	1096180	1096180	C	0	exonic	MUC2	.	.	.	.	532	749	62	4	175	245	0.0446429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	5030.81	440	chr11	1096180	.	C	*	5030.81	.	AC=8;AF=0.333;AN=24;BaseQRankSum=0.917;DP=8171;ExcessHet=6.9875;FS=1.141;InbreedingCoeff=-0.551;MLEAC=10;MLEAF=0.417;MQ=55.72;MQRankSum=-4.128;QD=1.58;ReadPosRankSum=0.461;SOR=0.796	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:241,99:340:99:.:.:2713,0,9321:.	4	0	8	7
chr11	1096181	1096181	C	0	exonic	MUC2	.	.	.	.	514	824	9	0	175	184	0.0054315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	1705.26	440	chr11	1096181	.	C	*	1705.26	.	AC=6;AF=0.214;AN=28;BaseQRankSum=0.922;DP=7954;ExcessHet=2.9153;FS=1.896;InbreedingCoeff=-0.3333;MLEAC=7;MLEAF=0.25;MQ=55.19;MQRankSum=-3.126;QD=0.71;ReadPosRankSum=1.32;SOR=0.892	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:241,99:340:99:.:.:2713,0,9321:.	8	0	6	5
chr11	1096182	1096182	C	0	exonic	MUC2	.	.	.	.	522	823	174	0	3	177	0.0956044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	1918.01	440	chr11	1096182	.	C	*	1918.01	.	AC=6;AF=0.2;AN=30;BaseQRankSum=-3.937;DP=7957;ExcessHet=2.9153;FS=1.867;InbreedingCoeff=-0.3103;MLEAC=7;MLEAF=0.233;MQ=56.52;MQRankSum=2.34;QD=0.79;ReadPosRankSum=1.24;SOR=0.868	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:241,99:340:99:.:.:2713,0,9321:.	9	0	6	4
chr11	1096211	1096211	A	0	exonic	MUC2	.	.	.	.	606	732	15	0	169	184	0.010142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375	3229.97	460	chr11	1096211	.	A	*	3229.97	.	AC=6;AF=0.375;AN=16;BaseQRankSum=-0.565;DP=7074;ExcessHet=4.3158;FS=1.16;InbreedingCoeff=-0.551;MLEAC=9;MLEAF=0.563;MQ=57.59;MQRankSum=-3.357;QD=1.21;ReadPosRankSum=0.115;SOR=0.796	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:206,99:315:99:.:.:3287,0,8686:.	2	0	6	11
chr11	1096721	1096759	GTGACCCCAACCCCGACACCCATCTCCACCACCACTACA	-	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0042	0.0008	0.0042	0.0042	0.0090	0.0037	0.0036	0.0058	0.0047	0.0016	0.0029	0.0051	0.0090	0.0020	0.0040	0.0039	0.0033	0.0055	0	0.0001	0	0	.	0	0	.	.	0	.	0	0	0	0	.	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	353.39	23	chr11	1096720	.	GGTGACCCCAACCCCGACACCCATCTCCACCACCACTACA	G	353.39	.	AC=1;AF=0.05;AN=20;DP=552;ExcessHet=0;FS=8.659;InbreedingCoeff=0.2408;MLEAC=2;MLEAF=0.1;MQ=49.63;MQRankSum=2.79;QD=7.85;SOR=0.893	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:20,25:45:99:0|1:1096720_GGTGACCCCAACCCCGACACCCATCTCCACCACCACTACA_G:362,0,771:1096720	9	0	1	9
chr11	1096735	1096735	G	0	exonic	MUC2	.	.	.	.	77	124	16	7	2	32	0.107914	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04167	1270.81	25	chr11	1096735	.	G	*	1270.81	.	AC=1;AF=0.042;AN=24;BaseQRankSum=2.54;DP=636;ExcessHet=5.6323;FS=112.526;InbreedingCoeff=-0.2324;MLEAC=1;MLEAF=0.042;MQ=47.61;MQRankSum=-1.354;QD=6.2;ReadPosRankSum=0.906;SOR=3.163	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:20,25:45:99:0|1:1096720_GGTGACCCCAACCCCGACACCCATCTCCACCACCACTACA_G:362,0,771:1096720	11	0	1	7
chr11	1096742	1096745	ATCT	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03333	252.74	27	chr11	1096742	.	ATCT	*	252.74	.	AC=1;AF=0.033;AN=30;BaseQRankSum=2.76;DP=688;ExcessHet=0.4742;FS=24.543;InbreedingCoeff=0.2231;MLEAC=1;MLEAF=0.033;MQ=49.61;MQRankSum=-0.318;QD=1.96;ReadPosRankSum=-1.332;SOR=1.786	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:20,25:45:99:0|1:1096720_GGTGACCCCAACCCCGACACCCATCTCCACCACCACTACA_G:362,0,771:1096720	14	0	1	4
chr11	1096743	1096743	T	0	exonic	MUC2	.	.	.	.	924	586	6	0	6	12	0.00509338	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	164.8	27	chr11	1096743	.	T	*	164.8	.	AC=3;AF=0.167;AN=18;BaseQRankSum=2.11;DP=702;ExcessHet=2.9231;FS=42.244;InbreedingCoeff=-0.1675;MLEAC=5;MLEAF=0.278;MQ=41.83;MQRankSum=-1.147;QD=0.86;ReadPosRankSum=-1.775;SOR=2.312	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:20,25:45:99:0|1:1096720_GGTGACCCCAACCCCGACACCCATCTCCACCACCACTACA_G:362,0,771:1096720	6	0	3	10
chr11	1096745	1096745	T	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1875	49.9	24	chr11	1096745	.	T	*	49.9	.	AC=3;AF=0.188;AN=16;BaseQRankSum=2.41;DP=703;ExcessHet=1.0667;FS=27.507;InbreedingCoeff=-0.0625;MLEAC=5;MLEAF=0.313;MQ=42.18;MQRankSum=-1.406;QD=0.32;ReadPosRankSum=-1.624;SOR=1.986	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:20,25:45:99:0|1:1096720_GGTGACCCCAACCCCGACACCCATCTCCACCACCACTACA_G:362,0,771:1096720	5	0	3	11
chr11	1096746	1096746	C	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	48.36	27	chr11	1096746	.	C	*	48.36	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.48;DP=709;ExcessHet=0.1773;FS=8.399;InbreedingCoeff=0.2112;MLEAC=2;MLEAF=0.1;MQ=42.25;MQRankSum=-1.406;QD=0.68;ReadPosRankSum=-1.861;SOR=1.287	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:20,25:45:99:0|1:1096720_GGTGACCCCAACCCCGACACCCATCTCCACCACCACTACA_G:362,0,771:1096720	9	0	1	9
chr11	1096749	1096749	C	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03333	188.79	28	chr11	1096749	.	C	*	188.79	.	AC=1;AF=0.033;AN=30;BaseQRankSum=4.03;DP=744;ExcessHet=0.4742;FS=19.98;InbreedingCoeff=0.2231;MLEAC=1;MLEAF=0.033;MQ=49.36;MQRankSum=0;QD=1.47;ReadPosRankSum=-2.639;SOR=1.657	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:20,25:45:99:0|1:1096720_GGTGACCCCAACCCCGACACCCATCTCCACCACCACTACA_G:362,0,771:1096720	14	0	1	4
chr11	1096784	1096784	G	A	exonic	MUC2	.	unknown	UNKNOWN	.	795	726	1	0	0	1	0.000688231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1482281853	0.0014	0.0017	0.0015	0.0012	0.0529	0.0013	0.0013	0.0500	0.0488	0.0529	0.0024	0.0002	0.0004	0.0001	0.0018	0.0002	0.0024	0.0005	0.0013	0.0067	0	0.0024	0.0025	0	0	.	.	0	.	0	0	0	0	0	0.0025	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	.	.	.	.	.	.	.	.	0.03333	195.13	26	chr11	1096784	.	G	A	195.13	.	AC=1;AF=0.033;AN=30;BaseQRankSum=3.79;DP=675;ExcessHet=0;FS=11.812;InbreedingCoeff=0.4584;MLEAC=1;MLEAF=0.033;MQ=43.84;MQRankSum=1.24;QD=6.1;ReadPosRankSum=-3.203;SOR=1.884	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:20,12:32:99:0|1:1096720_GGTGACCCCAACCCCGACACCCATCTCCACCACCACTACA_G:207,0,812:1096720	14	0	1	4
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	.	.	.	.	.	.	.	.	0.0625	54.14	107	chr11	1097805	.	C	A	54.14	.	AC=2;AF=0.063;AN=32;BaseQRankSum=-1.773;DP=1748;ExcessHet=0.119;FS=23.929;InbreedingCoeff=-0.0967;MLEAC=1;MLEAF=0.031;MQ=34.48;MQRankSum=0.096;QD=0.36;ReadPosRankSum=0.645;SOR=3.321	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:85,7:92:65:0|1:1097750_G_A:65,0,2683:1097750	14	0	2	3
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	.	.	.	.	.	.	.	.	0.07143	172.24	104	chr11	1098120	.	C	A	172.24	.	AC=2;AF=0.071;AN=28;BaseQRankSum=-2.076;DP=2337;ExcessHet=0.119;FS=7.88;InbreedingCoeff=-0.1313;MLEAC=2;MLEAF=0.071;MQ=35.1;MQRankSum=-0.242;QD=0.63;ReadPosRankSum=-2.129;SOR=0.2	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:108,12:120:99:0|1:1098094_C_T:179,0,4406:1098094	12	0	2	5
chr11	1098124	1098124	C	T	exonic	MUC2	.	unknown	UNKNOWN	.	631	864	27	0	0	27	0.0153846	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1320109801	0.0016	0.0060	0.0017	0.0015	0.0031	0.0015	0.0015	0.0025	0.0023	0.0012	0.0010	0.0021	0.0031	0.0020	0.0023	0.0016	0.0019	0.0007	0.0023	0.0048	0.0024	0.0022	0.0042	0.0019	0.0018	0.0018	0.0017	0.0026	0	0.0013	0.0025	0.0036	0.0014	0	0.0024	0.0037	0.0042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	228.25	102	chr11	1098124	.	C	T	228.25	.	AC=2;AF=0.25;AN=8;BaseQRankSum=-2.771;DP=2209;ExcessHet=0.119;FS=11.487;InbreedingCoeff=-0.3324;MLEAC=5;MLEAF=0.625;MQ=33.92;MQRankSum=-0.034;QD=0.9;ReadPosRankSum=-2.408;SOR=0.133	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:97,12:109:99:0|1:1098094_C_T:212,0,4037:1098094	2	0	2	15
chr11	1179191	1179191	G	A	exonic	MUC5AC	.	nonsynonymous SNV	MUC5AC:NM_001304359:exon26:c.G3427A:p.A1143T	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs944671749	3.976e-05	4.919e-05	4.549e-05	3.492e-05	3.928e-05	2.653e-05	2.167e-05	2.193e-05	1.752e-05	0	0	0	0	0.0002	0	3.928e-05	0.0001	0	1.314e-05	1.313e-05	2.569e-05	0	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.332	0.37301	.	.	.	.	.	.	.	0.36594468	0.53101	T	.	.	.	.	.	.	.	.	.	0.6154594514231304	0.61477	.	.	.	.	.	0.27038	0.64264	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-10.789	0.78488	D	.	.	0.441	0.61745	A	.	.	4.012719	0.59210	24.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.693000	0.74409	9.540000	0.80961	0.670000	0.69193	1.000000	0.71638	1.000000	0.68203	0.493000	0.28859	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1011.33	46	chr11	1179191	.	G	A	1011.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.72;DP=741;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=0.258;SOR=0.758	GT:AD:DP:GQ:PL	0/1:43,49:92:99:1025,0,870	18	0	1	0
chr11	1228604	1228604	C	T	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon8:c.C815T:p.A272V	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.247	0.0777755795875	.	0.000399361	0.0018	0	0	0	0	0	0	0.0031	0.0001682	26	154602	rs560329506	0.0002	0.0002	8.869e-05	0.0002	0.0025	0.0001	0.0001	0.0022	0.0021	3.181e-05	0	0	0	2.893e-05	0.0005	1.022e-05	0.0002	0.0025	0.0001	0.0001	1.285e-05	0.0003	0.0039	9.143e-05	7.699e-05	0.0026	0.0021	0	0	0	0	0	0	0.0034	1.471e-05	0	0.0039	0.135	0.26192	T	.	.	.	0.133	0.27236	B	0.027	0.21085	B	.	.	.	.	1	0.08975	N	2.1	0.58353	M	-1.19	0.78427	T	-1.87	0.43717	N	0.187	0.20395	-0.7295	0.58989	T	0.287	0.65928	T	9	0.012890369	0.00275	T	0.077776	0.72851	D	0.247	0.55478	.	.	0.461779004028	0.45804	0.6237491184128012	0.62307	.	.	0.467257022858	0.34304	T	0.017405	0.14204	T	-0.409508	0.02003	T	-0.367173	0.37220	T	0.0207872725965371	0.00778	T	0.156584	0.01380	T	0.031108715	0.02892	0.05482342	0.09501	0.031108715	0.02892	0.05482342	0.09500	-5.754	0.44172	T	.	.	0.094	0.14293	B	.	.	0.894304	0.12679	9.202	0.82902409846127589	0.14436	0.02856	0.07618	N	AEFDBI	0.065186	0.12701	N	-0.774348764005747	0.13980	0.6928143	-0.980069036951841	0.10233	0.5140906	2.22202251856024E-4	0.06048	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	3.48	-2.52	0.05978	0.150000	0.16082	-0.563000	0.08467	-0.247000	0.07223	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.1359:0.4753:0.1329:0.2558	1.899	0.03065	970	0.06235	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	.	.	.	.	.	.	.	.	0.02632	562.33	34	chr11	1228604	.	C	T	562.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.435;DP=695;ExcessHet=0;FS=0.939;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.15;ReadPosRankSum=0.391;SOR=0.88	GT:AD:DP:GQ:PL	0/1:41,28:69:99:576,0,961	18	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	.	.	.	.	.	.	.	.	0.05263	5246.83	253	chr11	1243062	.	C	G	5246.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.23;DP=2429;ExcessHet=0.119;FS=2.47;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=49.86;MQRankSum=-0.112;QD=11.98;ReadPosRankSum=2.37;SOR=0.917	GT:AD:DP:GQ:PL	0/1:104,106:210:99:2921,0,2741	17	0	2	0
chr11	1630383	1630413	TTACTGCTGCCAGTCCAGCTGCTGTAAGCCC	0	exonic	KRTAP5-5	.	.	.	.	532	195	381	185	229	980	0.658195	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3421	57352.6	206	chr11	1630383	.	TTACTGCTGCCAGTCCAGCTGCTGTAAGCCC	*	57352.6	.	AC=13;AF=0.342;AN=38;BaseQRankSum=1.38;DP=3777;ExcessHet=0.1504;FS=1.658;InbreedingCoeff=0.2083;MLEAC=13;MLEAF=0.342;MQ=58.69;MQRankSum=-5.209;QD=18.99;ReadPosRankSum=0.122;SOR=0.924	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,68:157:99:.:.:5843,3124,3808:.	8	2	9	0
chr11	3702637	3702637	T	C	exonic	NUP98	.	nonsynonymous SNV	NUP98:NM_001365129:exon22:c.A3197G:p.K1066R,NUP98:NM_001365126:exon23:c.A3389G:p.K1130R,NUP98:NM_001365127:exon23:c.A3314G:p.K1105R,NUP98:NM_001365128:exon23:c.A3287G:p.K1096R,NUP98:NM_016320:exon23:c.A3338G:p.K1113R,NUP98:NM_139132:exon23:c.A3338G:p.K1113R,NUP98:NM_001365125:exon24:c.A3431G:p.K1144R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.00179362366667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.736e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.784	0.13436	T	0.706	0.16086	T	0.001	0.07471	B	0.002	0.06944	B	0.003553	0.34793	N	0.319538	0.999807	0.20292	N	2.075	0.57047	M	.	.	.	0.2	0.04861	N	0.2	0.23380	-1.0452	0.15767	T	0.068	0.27811	T	9	0.11644369	0.21965	T	0.001794	0.03063	T	0.059	0.16972	0.416	0.45544	0.328504224676	0.32467	0.740457671516926	0.73990	0.165330610218	0.18651	0.457846939564	0.33015	T	0.037835	0.24623	T	-0.144454	0.29184	T	-0.445274	0.28220	T	0.106972459790582	0.13107	T	0.864914	0.56300	D	0.05425297	0.10382	0.12714088	0.30609	0.05425297	0.10382	0.12714088	0.30609	-3.643	0.18729	T	.	.	0.068	0.10497	B	.;.;.	.;.;.	2.225748	0.28409	17.79	0.96830715148539015	0.31263	0.52766	0.29210	D	AEFGBI	0.067578	0.13292	N	-0.37552652152788	0.26343	1.437029	-0.186635112707314	0.32026	1.818099	0.997865628292989	0.36124	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.35	5.35	0.76297	1.356000	0.33683	6.209000	0.54989	0.665000	0.62972	0.465000	0.26683	1.000000	0.68203	0.991000	0.66497	0.0:0.0:0.1606:0.8394	10.646	0.44816	525	0.74024	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3534.33	36	chr11	3702637	.	T	C	3534.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.783;DP=918;ExcessHet=0;FS=1.076;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.67;ReadPosRankSum=-0.316;SOR=0.606	GT:AD:DP:GQ:PL	0/1:86,126:212:99:3548,0,2379	18	0	1	0
chr11	4138250	4138250	A	G	exonic	RRM1	.	nonsynonymous SNV	RRM1:NM_001318065:exon13:c.A1232G:p.Q411R,RRM1:NM_001330193:exon13:c.A1580G:p.Q527R,RRM1:NM_001318064:exon18:c.A1955G:p.Q652R,RRM1:NM_001033:exon19:c.A2246G:p.Q749R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.421	0.072589215097	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.052	0.47581	T	0.888	0.48822	P	0.409	0.44752	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.315	0.66250	M	0.97	0.42502	T	-3.13	0.63901	D	0.738	0.73826	-0.6299	0.63575	T	0.189	0.53960	T	10	0.6734218	0.70849	D	0.072589	0.71571	D	0.421	0.73005	0.389	0.41115	0.8199705796	0.81827	0.8065140325601788	0.80606	1.25690945348	0.81934	0.862648963928	0.91501	D	0.580575	0.86259	D	0.22129	0.75897	D	0.080092	0.75583	D	0.938922107219696	0.60995	D	0.964504	0.86839	D	0.49466336	0.66780	0.47106132	0.69331	0.49466336	0.66781	0.47106132	0.69331	-9.178	0.68836	D	.	.	0.398	0.61119	A	.;.	.;.	4.263848	0.64821	24.8	0.99607525739095115	0.74575	0.98674	0.85428	D	AEFDBI	0.931635	0.92074	D	0.619917193119437	0.74436	6.132313	0.598777419740982	0.74851	6.20809	0.999895717065915	0.45129	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.55	4.4	0.52402	8.947000	0.92735	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.8612:0.0:0.0:0.1388	11.095	0.47357	608	0.67185	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2055.33	49	chr11	4138250	.	A	G	2055.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.123;DP=1007;ExcessHet=0;FS=5.965;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.16;ReadPosRankSum=0.175;SOR=0.371	GT:AD:DP:GQ:PL	0/1:84,85:169:99:2069,0,2290	18	0	1	0
chr11	5351792	5351792	C	G	exonic	OR51B6	.	nonsynonymous SNV	OR51B6:NM_001004750:exon1:c.C285G:p.C95W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.313	0.0559336047313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0.0093	0.0026	0.0022	0.0029	0.0023	0.0023	0.0028	0.0028	0.0027	6.717e-05	0.0009	0.0002	1.873e-05	0.0012	0.0029	0.0019	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000016	0.62929	D	0.000000	1	0.81001	D	4.81	0.99662	H	6.65	0.00510	T	-10.89	0.99244	D	0.807	0.80278	-1.1620	0.00709	T	0.013	0.05033	T	10	0.9621227	0.95635	D	0.055934	0.66418	D	0.313	0.63482	0.748	0.87905	0.527045900269	0.52351	0.471107557204946	0.47029	0.0116871865332	0.01096	0.339552879333	0.16371	T	0.119847	0.44167	T	0.113068	0.65668	D	-0.0753619	0.65240	T	0.99993371963501	0.99782	D	0.909809	0.68064	D	0.97552437	0.98751	0.92103964	0.96471	0.97552437	0.98751	0.92103964	0.96472	-8.765	0.66172	D	.	.	0.343	0.56118	A	.	.	2.116618	0.26937	17.29	0.98967027029080845	0.49442	0.39672	0.26265	N	AEFBI	0.767818	0.70356	D	0.108662788856825	0.46867	2.920579	-0.159160573312792	0.33057	1.887009	0.0102554648337644	0.11993	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.01	2.16	0.26663	-0.170000	0.09886	.	.	-1.712000	0.00741	0.001000	0.13787	0.000000	0.08366	0.014000	0.10232	0.0:0.6705:0.0:0.3295	8.371	0.31576	861	0.33516	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3214	1427.75	152	chr11	5351792	.	C	G	1427.75	.	AC=9;AF=0.321;AN=28;BaseQRankSum=-4.584;DP=3027;ExcessHet=5.3738;FS=255.187;InbreedingCoeff=-0.44;MLEAC=11;MLEAF=0.393;MQ=60;MQRankSum=0;QD=0.98;ReadPosRankSum=-0.039;SOR=11.794	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:124,47:171:99:.:.:445,0,4037:.	5	0	9	5
chr11	5454368	5454368	G	A	exonic	OR51I2	.	nonsynonymous SNV	OR51I2:NM_001004754:exon1:c.G880A:p.A294T	.	430	1084	8	0	0	8	0.00367647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.0110459718147	0.0058	0.00259585	0.0053	0.0012	0.0023	0.0003	0.0051	0.0080	0.0033	0.0019	0.005194	803	154602	rs139102367	0.0068	0.0068	0.0070	0.0066	0.0133	0.0067	0.0066	0.0109	0.0101	0.0013	0.0029	0.0002	0.0013	0.0058	0.0133	0.0079	0.0065	0.0022	0.0054	0.0054	0.0057	0.0051	0.0081	0.0051	0.0050	0.0075	0.0073	0.0018	0	0.0080	0	0.0006	0.0043	0.0136	0.0081	0.0066	0.0017	0.018	0.50676	D	0.01	0.65728	D	0.008	0.14655	B	0.003	0.08700	B	0.002895	0.35770	N	0.197073	0.983774	0.40057	D	1.27	0.32069	L	1.22	0.37052	T	-0.1	0.08495	N	0.174	0.18649	-1.0122	0.26228	T	0.057	0.24130	T	10	0.0054678023	0.00121	T	0.011046	0.28270	T	0.059	0.16972	.	.	0.202086224978	0.19791	0.05591651426033309	0.05532	0.0085942019034	0.00777	0.201415508986	0.00499	T	0.00103	0.00564	T	-0.5777	0.00199	T	-0.595353	0.13205	T	0.00633887358148472	0.00070	T	0.649435	0.26018	T	0.087157644	0.20285	0.19217558	0.42717	0.087157644	0.20285	0.19217558	0.42716	-4.455	0.30296	T	.	.	0.098	0.16319	B	.;.	.;.	1.943272	0.24685	16.49	0.90722555318189568	0.19972	0.29547	0.23850	N	AEFBCI	0.249450	0.36968	N	-0.832554428285813	0.12483	0.608775	-0.772966009526977	0.15159	0.7958556	0.963517943279825	0.28696	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.45	3.61	0.40494	-1.068000	0.03558	.	.	-0.712000	0.03928	0.000000	0.06391	0.000000	0.08366	0.046000	0.14843	0.249:0.0:0.751:0.0	7.716	0.27872	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	0.009063	0.015152	0.002717	0.020468	0.050000	0.017241	0.009146	0.000000	0.02632	1899.33	145	chr11	5454368	.	G	A	1899.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.343;DP=941;ExcessHet=0;FS=5.459;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.07;ReadPosRankSum=0.134;SOR=0.37	GT:AD:DP:GQ:PL	0/1:64,71:135:99:1913,0,1739	18	0	1	0
chr11	7987585	7987585	C	T	exonic	EIF3F	.	nonsynonymous SNV	EIF3F:NM_003754:exon1:c.C233T:p.P78L	.	383	1136	3	0	0	3	0.00131868	.	.	.	2743652	not_provided|EIF3F-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.083	0.0208829789782	0.0009	0.000199681	0.0014	0	0.0009	0	0	0.0021	0.0015	0.0013	0.0001876	29	154602	rs200229110	0.0013	0.0013	0.0012	0.0013	0.0040	0.0012	0.0012	0.0026	0.0021	0.0003	0.0007	0.0081	0	0.0002	0.0040	0.0013	0.0019	0.0009	0.0011	0.0011	0.0011	0.0011	0.0017	0.0009	0.0009	0.0012	0.0011	0.0002	0	0.0017	0.0086	0	0	0	0.0014	0.0014	0.0002	0.005	0.63226	D	0.034	0.52727	D	0.002	0.09854	B	0.007	0.12992	B	0.874246	0.08802	N	0.943443	0.999998	0.58761	D	0.895	0.22405	L	0.98	0.42122	T	-0.62	0.18248	N	0.142	0.19995	-1.0299	0.20487	T	0.083	0.32700	T	10	0.0059174597	0.00133	T	0.020883	0.43558	T	0.083	0.24192	.	.	0.128874641272	0.12493	0.19762602238569787	0.19679	0.284819605958	0.30900	0.742073535919	0.73278	T	0.008647	0.07927	T	-0.51202	0.00489	T	-0.532885	0.19000	T	0.056818025186601	0.06659	T	.	.	.	0.08013977	0.18347	0.05640729	0.10074	0.08013977	0.18346	0.05640729	0.10073	-4.915	0.35903	T	.	.	0.111	0.34339	B	.;.;.	.;.;.	2.258865	0.28859	17.94	0.99321029265576699	0.59393	0.04962	0.10727	N	AEFGBCI	0.108788	0.21631	N	-0.703135107759395	0.15932	0.8074151	-0.703501639434969	0.16874	0.8946542	0.999999991954739	0.74766	0.733237	0.96898	0	0.600757	0.49542	0	0.600757	0.32118	0	0.621717	0.48901	0	.	.	2.97	2.97	0.33479	0.320000	0.19288	2.430000	0.32726	0.599000	0.40250	0.000000	0.06391	0.928000	0.28476	0.094000	0.17991	0.0:1.0:0.0:0.0	12.230	0.53793	819	0.41190	.;.;.	.	.	.	.	.	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	0.001056	0.000000	0.000000	0.003846	0.000000	0.008621	0.000000	0.000000	0.02632	2158.33	34	chr11	7987585	.	C	T	2158.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.56;DP=844;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=50.36;MQRankSum=-0.695;QD=14.78;ReadPosRankSum=0.978;SOR=0.667	GT:AD:DP:GQ:PL	0/1:69,77:146:99:2172,0,1900	18	0	1	0
chr11	10505819	10505819	T	C	exonic	AMPD3	.	nonsynonymous SNV	AMPD3:NM_001172431:exon14:c.T1762C:p.C588R,AMPD3:NM_000480:exon15:c.T2266C:p.C756R,AMPD3:NM_001025389:exon15:c.T2239C:p.C747R,AMPD3:NM_001025390:exon15:c.T2260C:p.C754R,AMPD3:NM_001172430:exon15:c.T2239C:p.C747R	.	420	1100	2	0	0	2	0.000908265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.781	0.0678596886276	.	.	8.246e-06	0	0	0	0	0	0	6.059e-05	6.5e-06	1	154602	rs774955166	6.157e-06	6.156e-06	4.084e-06	8.251e-06	0.0002	2.9e-06	2.1e-06	2.995e-05	2.038e-05	0	0	0	0	0	0.0002	1.799e-06	0	6.956e-05	6.569e-06	6.566e-06	0	1.344e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.624	0.28900	T	0.415	0.14326	T	0.038	0.21002	B	0.017	0.18140	B	0.000000	0.84330	D	0.062596	1	0.81001	D	1.345	0.33447	L	-1.57	0.81900	D	-5.38	0.84954	D	0.761	0.80767	-0.0438	0.81338	T	0.583	0.85021	D	10	0.7913933	0.78691	D	0.06786	0.70288	D	0.781	0.92705	0.473	0.54859	0.96035454392	0.95993	0.9216851873768198	0.92144	0.525708811115	0.50218	0.912594795227	0.97710	D	0.658223	0.89711	D	0.264403	0.79934	D	0.323548	0.89240	D	0.597139066934359	0.36287	D	0.909209	0.67884	D	0.80159515	0.84008	0.7919345	0.87766	0.80159515	0.84009	0.7919345	0.87766	-8.433	0.66211	D	0.2146515230487774	0.28844	0.375	0.59471	A	.;.;.;.;.	.;.;.;.;.	4.347355	0.66745	25.0	0.9968364179913034	0.79440	0.92449	0.55738	D	AEFDBHCIJ	0.947154	0.95740	D	0.420785174664905	0.62566	4.474594	0.528843324656432	0.69941	5.432483	1.0	0.98316	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.616919	0.45865	0	.	.	5.95	5.95	0.96415	8.017000	0.88732	7.947000	0.75742	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	16.424	0.83629	743	0.52768	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1220.33	35	chr11	10505819	.	T	C	1220.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.153;DP=782;ExcessHet=0;FS=3.969;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.25;ReadPosRankSum=0.633;SOR=0.699	GT:AD:DP:GQ:PL	0/1:90,58:148:99:1234,0,2409	18	0	1	0
chr11	10559867	10559867	G	A	exonic	LYVE1	.	nonsynonymous SNV	LYVE1:NM_006691:exon5:c.C731T:p.A244V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.222	0.0316624712336	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1011426411	1.382e-05	1.372e-05	1.79e-05	9.716e-06	0.0009	9.03e-06	7.34e-06	0.0003	0.0002	3.015e-05	0	0	0	0	0.0009	1.184e-05	0	1.164e-05	1.322e-05	1.316e-05	1.291e-05	1.354e-05	1.473e-05	2.2e-06	8.2e-07	.	.	0	0	0	0	0	0	0.0032	1.473e-05	0	0	0.116	0.91255	T	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000001	0.84330	D	0.000000	0.999982	0.54805	D	1.995	0.54099	M	2.74	0.57100	T	-1.72	0.74051	N	0.743	0.83371	-0.4509	0.70370	T	0.344	0.70940	T	10	0.7525157	0.75742	D	0.031662	0.53686	D	0.222	0.51872	0.383	0.40134	0.752590173691	0.75035	0.5316431793870309	0.53089	0.438298358417	0.43869	0.586091697216	0.50943	T	0.380784	0.74325	T	0.128026	0.67169	D	-0.0538753	0.66757	D	0.953589856624603	0.64061	D	0.849515	0.57326	T	0.22611228	0.45285	0.23588851	0.48845	0.22611228	0.45285	0.23588851	0.48844	-4.267	0.27712	T	.	.	0.576	0.75037	P	.;.	.;.	4.864352	0.79626	27.1	0.99869083234187406	0.94726	0.94107	0.60133	D	AEFI	0.863055	0.78149	D	0.767749876461228	0.84054	8.182144	0.746411232723111	0.85890	8.717017	0.934815928530212	0.27187	0.615465	0.37627	0	0.563428	0.19063	0	0.547309	0.15389	0	0.655142	0.61905	0	.	.	5.44	5.44	0.79348	6.124000	0.71349	11.915000	0.99681	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	18.043	0.89248	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	.	.	.	.	.	.	.	.	0.08333	254.36	33	chr11	10559867	.	G	A	254.36	.	AC=2;AF=0.083;AN=24;BaseQRankSum=-3.18;DP=1302;ExcessHet=0.119;FS=423.277;InbreedingCoeff=-0.1692;MLEAC=3;MLEAF=0.125;MQ=60;MQRankSum=0;QD=1.22;ReadPosRankSum=1.24;SOR=9.472	GT:AD:DP:GQ:PL	0/1:70,38:116:99:134,0,1197	10	0	2	7
chr11	22625254	22625254	G	A	exonic	FANCF	.	nonsynonymous SNV	FANCF:NM_022725:exon1:c.C557T:p.A186V	Fanconi anemia, complementation group F	0	1443	79	0	0	79	0.0266442	.	.	.	138088	not_specified|Fanconi_anemia_complementation_group_F|Malignant_tumor_of_breast|Fanconi_anemia|not_provided|Hereditary_cancer-predisposing_syndrome|Ovarian_cancer	MedGen:CN169374|MONDO:MONDO:0011325,MedGen:C3469526,OMIM:603467,Orphanet:84|MONDO:MONDO:0007254,MedGen:C0006142|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.041	.	0.0057	0.00519169	0.0091	0.0011	0.0056	0.0002	0.0051	0.0103	0.0189	0.0175	0.0087256	1349	154602	rs113910234	0.0088	0.0088	0.0083	0.0092	0.0201	0.0086	0.0086	0.0171	0.0160	0.0010	0.0049	0.0038	2.519e-05	0.0056	0.0201	0.0091	0.0086	0.0167	0.0062	0.0062	0.0066	0.0059	0.0153	0.0059	0.0058	0.0125	0.0115	0.0015	0	0.0048	0.0055	0.0002	0.0039	0.0238	0.0097	0.0071	0.0153	0.446	0.09101	T	0.188	0.28669	T	0.04	0.21238	B	0.062	0.26930	B	0.033578	0.01773	N	2.075460	1	0.08975	N	0.345	0.11182	N	1.5	0.31205	T	-1.19	0.30346	N	0.078	0.05287	-1.0265	0.21593	T	0.037	0.15856	T	10	0.0028169155	0.00045	T	.	.	.	0.041	0.10877	.	.	0.162503812791	0.15892	0.12238860906299871	0.12165	0.248819774216	0.27451	0.349070757627	0.17785	T	0.071258	0.34164	T	-0.650317	0.00072	T	-0.693286	0.06201	T	0.00244706665336393	0.00025	T	0.450155	0.12692	T	0.047262046	0.08048	0.051013313	0.08125	0.042552084	0.06473	0.051013313	0.08124	-4.121	0.25599	T	0.22404178093100105	0.30252	0.098	0.16231	B	.	.	0.895746	0.12696	9.216	0.94939303724773183	0.25832	0.43237	0.27054	N	ALL	0.084762	0.17181	N	-1.31958861353704	0.03451	0.1541903	-1.28871962557727	0.04582	0.2164664	0.999999999986908	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.504199	0.09095	0	0.372554	0.06265	0	.	.	4.87	1.82	0.24209	0.252000	0.18046	0.114000	0.14823	-0.926000	0.02173	0.000000	0.06391	0.002000	0.18203	0.002000	0.04165	0.0:0.503:0.4183:0.0787	9.497	0.38162	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	1	0	0.017120	0.000000	0.020380	0.020468	0.000000	0.008621	0.024390	0.022727	0.05263	6453.83	33	chr11	22625254	.	G	A	6453.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.51;DP=1068;ExcessHet=0.119;FS=3.221;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.87;ReadPosRankSum=-0.807;SOR=0.938	GT:AD:DP:GQ:PL	0/1:104,102:206:99:2916,0,2683	17	0	2	0
chr11	33606778	33606778	A	C	exonic	KIAA1549L	.	nonsynonymous SNV	KIAA1549L:NM_012194:exon14:c.A5017C:p.T1673P	.	425	1087	10	0	0	10	0.00457875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.130	0.00277276727028	0.0002	0.000599042	0.0012	0.0001	0.0014	0	0	0.0014	0	0.0019	0.0008732	135	154602	rs199776321	0.0008	0.0008	0.0007	0.0009	0.0123	0.0007	0.0007	0.0100	0.0092	0.0008	0.0010	0.0137	0	0	0.0123	0.0003	0.0021	0.0017	0.0007	0.0007	0.0007	0.0006	0.0009	0.0006	0.0005	0.0006	0.0004	0.0002	0	0.0009	0.0118	0	0	0.0102	0.0004	0.0005	0.0008	0.284	0.15303	T	0.152	0.32249	T	.	.	.	.	.	.	0.093459	0.20223	N	0.556859	1	0.08975	N	0.11	0.08516	N	.	.	.	-0.14	0.09135	N	0.141	0.14054	-1.0785	0.07641	T	0.048	0.20434	T	9	0.0030603409	0.00050	T	0.002773	0.05752	T	0.130	0.35528	.	.	0.0846915920261	0.08053	0.14824664572716612	0.14746	0.226095506065	0.25162	0.281315803528	0.07677	T	0.025846	0.19245	T	-0.438906	0.01313	T	-0.409401	0.32295	T	0.000340188431040199	0.00003	T	0.527447	0.17405	T	0.056069683	0.10981	0.06587879	0.13414	0.056069683	0.10981	0.06587879	0.13413	-2.616	0.06625	T	.	.	0.056	0.01470	B	.;.	.;.	0.343854	0.07174	3.759	0.75016758292641461	0.10914	0.19262	0.20592	N	AEFBI	0.190347	0.31758	N	-1.31153977468518	0.03542	0.1584078	-1.37334065366999	0.03538	0.165257	0.687568234478271	0.22551	0.706548	0.73137	0	0.670034	0.63936	0	0.616094	0.41390	0	0.714379	0.83352	0	.	.	5.43	-7.46	0.01225	1.067000	0.30227	0.031000	0.13732	-0.133000	0.13014	0.157000	0.23755	0.000000	0.08366	0.416000	0.27139	0.1052:0.1132:0.4511:0.3305	3.938	0.08811	669	0.61081	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.019677	0.005051	0.025886	0.040936	0.000000	0.017241	0.009146	0.007576	0.02632	709.33	35	chr11	33606778	.	A	C	709.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.388;DP=726;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.21;ReadPosRankSum=0.855;SOR=0.749	GT:AD:DP:GQ:PL	0/1:44,33:77:99:723,0,1269	18	0	1	0
chr11	36573881	36573881	G	A	exonic	RAG1	.	nonsynonymous SNV	RAG1:NM_000448:exon2:c.G577A:p.E193K,RAG1:NM_001377280:exon2:c.G577A:p.E193K,RAG1:NM_001377279:exon3:c.G577A:p.E193K,RAG1:NM_001377278:exon4:c.G577A:p.E193K,RAG1:NM_001377277:exon5:c.G577A:p.E193K	Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity;Combined cellular and humoral immune defects with granulomas, Autosomal recessive;Omenn syndrome, Autosomal recessive;Severe combined immunodeficiency, B cell-negative, Autosomal recessive	0	1514	8	0	0	8	0.00263505	.	.	.	320387	Combined_immunodeficiency_with_skin_granulomas|Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-positive|Recombinase_activating_gene_1_deficiency|Histiocytic_medullary_reticulosis|not_specified|not_provided	MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650,Orphanet:157949|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457,Orphanet:331206|MONDO:MONDO:0000572,MedGen:CN375631|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554,Orphanet:39041|MedGen:CN169374|MedGen:C3661900	reviewed_by_expert_panel	Benign	.	.	.	.	.	.	.	.	0.200	.	0.0007	0.00858626	0.0041	0.0020	0.0035	0.0006	0	0.0003	0.0033	0.0250	0.0037516	580	154602	rs34841221	0.0020	0.0020	0.0013	0.0026	0.0239	0.0019	0.0019	0.0231	0.0227	0.0029	0.0022	0	0.0004	1.872e-05	0.0045	0.0003	0.0031	0.0239	0.0020	0.0020	0.0017	0.0024	0.0234	0.0018	0.0018	0.0199	0.0186	0.0031	0	0.0024	0	0.0010	0	0	0.0003	0.0028	0.0234	0.001	0.78490	D	0.059	0.45961	T	0.025	0.19245	B	0.02	0.19048	B	0.029419	0.25458	N	0.460284	0.976992	0.39326	D	2.93	0.84523	M	1.2	0.37405	T	-1.63	0.39119	N	0.198	0.21839	-0.9588	0.39405	T	0.116	0.41097	T	10	0.006309539	0.00142	T	.	.	.	0.200	0.48430	.	.	0.787300041622	0.78532	0.8197709667649028	0.81934	0.742457196902	0.63339	0.362892061472	0.19806	T	0.272725	0.64512	T	-0.39678	0.02430	T	-0.323799	0.42157	T	0.0630453081786486	0.07639	T	0.925407	0.72589	D	0.13762543	0.31859	0.14091061	0.33573	0.13762543	0.31859	0.14091061	0.33572	-3.183	0.12274	T	0.2443072653280299	0.33091	0.089	0.12228	B	.	.	1.797760	0.22853	15.79	0.99806925568530724	0.89085	0.97903	0.78000	D	AEFDGBI	0.699077	0.65654	D	-0.159043220589508	0.34852	1.994568	-0.114613474459995	0.34800	2.005936	0.999999999972496	0.74766	0.516011	0.20929	0	0.563428	0.19063	0	0.573888	0.23631	0	0.586402	0.36253	0	.	.	5.9	4.97	0.65419	4.085000	0.57380	3.868000	0.40172	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.002000	0.04165	0.0:0.1331:0.8669:0.0	16.779	0.85421	485	0.77085	RAG1 importin-binding	.	.	.	.	.	Likely benign	0	0	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	0.020202	0.002717	0.000000	0.000000	0.000000	0.000000	0.018939	0.05263	6251.83	33	chr11	36573881	.	G	A	6251.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.663;DP=1063;ExcessHet=0.119;FS=0.521;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.47;ReadPosRankSum=0.979;SOR=0.778	GT:AD:DP:GQ:PL	0/1:109,117:226:99:3168,0,2872	17	0	2	0
chr11	36593525	36593525	G	A	exonic	RAG2	.	nonsynonymous SNV	RAG2:NM_000536:exon2:c.C644T:p.T215I,RAG2:NM_001243785:exon3:c.C644T:p.T215I,RAG2:NM_001243786:exon3:c.C644T:p.T215I	Combined cellular and humoral immune defects with granulomas, Autosomal recessive;Omenn syndrome, Autosomal recessive;Severe combined immunodeficiency, B cell-negative, Autosomal recessive	0	1514	8	0	0	8	0.00263505	.	.	.	28174	Severe_combined_immunodeficiency,_B_cell-negative|Recombinase_activating_gene_2_deficiency|Histiocytic_medullary_reticulosis|Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-positive|Inborn_error_of_immunity|not_provided|not_specified|Combined_immunodeficiency_with_skin_granulomas	MedGen:C1867362|MONDO:MONDO:0000573,MedGen:CN257931|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554,Orphanet:39041|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457,Orphanet:331206|MONDO:MONDO:0003778,MedGen:C0398686,Orphanet:101997|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650,Orphanet:157949	reviewed_by_expert_panel	Benign	.	.	.	.	.	.	.	.	0.452	.	.	0.00778754	0.0036	0.0009	0.0003	0.0006	0	2.997e-05	0.0022	0.0250	0.0032535	503	154602	rs35691292	0.0016	0.0016	0.0010	0.0022	0.0239	0.0015	0.0015	0.0231	0.0227	0.0013	0.0001	0	0.0004	0	0.0023	4.856e-05	0.0024	0.0239	0.0011	0.0012	0.0009	0.0014	0.0232	0.0010	0.0010	0.0197	0.0184	0.0012	0	6.539e-05	0	0.0010	0	0	1.47e-05	0.0024	0.0232	0.0	0.91255	D	0.048	0.48594	D	0.51	0.37313	P	0.336	0.42263	B	0.000372	0.45194	D	0.186350	0.999328	0.46670	D	2.25	0.63811	M	-0.82	0.74053	T	-2.65	0.56787	D	0.93	0.93487	-0.1307	0.79385	T	0.445	0.78130	T	10	0.012598813	0.00270	T	.	.	.	0.452	0.75211	.	.	0.893026235512	0.89197	0.5584153648609416	0.55768	0.279056390861	0.30382	0.553429543972	0.46341	T	0.801588	0.94947	D	-0.283243	0.10327	T	-0.160711	0.58288	T	0.0735802314253366	0.09145	T	0.878412	0.59357	D	0.48058102	0.65935	0.56858534	0.75023	0.5398673	0.69390	0.6039507	0.76982	-4.508	0.30993	T	0.1452352143613039	0.16656	0.161	0.35602	B	.;.	.;.	3.669444	0.52172	23.2	0.99699520252934004	0.80522	0.94711	0.62067	D	AEFBI	.	.	.	0.403352317745619	0.61608	4.364049	0.461272630612188	0.65446	4.824594	0.999999999733192	0.74766	0.497415	0.19182	0	0.563428	0.19063	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.7	5.7	0.88690	5.853000	0.69232	8.710000	0.78133	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.924000	0.46004	0.0:0.0:1.0:0.0	19.844	0.96698	367	0.84523	.;.	.	.	.	.	.	Likely benign	0	0	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	0.015152	0.05263	4879.83	33	chr11	36593525	.	G	A	4879.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.77;DP=1065;ExcessHet=0.119;FS=6.568;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.74;ReadPosRankSum=0.682;SOR=0.919	GT:AD:DP:GQ:PL	0/1:106,93:199:99:2575,0,2890	17	0	2	0
chr11	46680520	46680520	G	A	exonic	ARHGAP1	.	nonsynonymous SNV	ARHGAP1:NM_004308:exon9:c.C787T:p.L263F	.	414	1062	44	2	0	48	0.0220994	.	.	.	724452	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.033	.	0.0075	0.0061901	0.0075	0.0015	0.0024	0.0002	0.0011	0.0076	0.0056	0.0211	0.0074255	1148	154602	rs144801476	0.0085	0.0085	0.0081	0.0089	0.0219	0.0083	0.0083	0.0211	0.0207	0.0012	0.0041	0.0073	5.038e-05	0.0010	0.0116	0.0085	0.0084	0.0219	0.0063	0.0063	0.0061	0.0066	0.0220	0.0060	0.0059	0.0186	0.0173	0.0015	0	0.0073	0.0086	0.0002	0.0007	0.0102	0.0093	0.0052	0.0220	0.014	0.53172	D	0.131	0.34596	T	0.944	0.53183	P	0.706	0.54345	P	0.002202	0.37012	N	0.289856	0.990818	0.41242	D	1.59	0.40313	L	1.94	0.22678	T	-2.33	0.51646	N	0.586	0.60664	-0.9359	0.43257	T	0.139	0.45810	T	10	0.010460794	0.00233	T	.	.	.	0.230	0.53062	.	.	0.370424759081	0.36655	0.5728059168516507	0.57208	0.726963817646	0.62542	0.465059936047	0.34003	T	0.229299	0.59508	T	-0.422845	0.01641	T	-0.363244	0.37677	T	0.0448128616842394	0.04568	T	0.966303	0.87634	D	0.34336683	0.56546	0.21950996	0.46693	0.34336683	0.56546	0.21950996	0.46692	-8.915	0.67148	D	.	.	0.456	0.62489	A	.	.	3.736251	0.53476	23.4	0.99819281351141431	0.90238	0.88351	0.48239	D	AEFDGBCI	0.285061	0.39777	N	-0.0191197558799361	0.40991	2.443943	-0.030446427730066	0.38346	2.257928	0.989964223913407	0.31991	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.01	2.09	0.26154	2.089000	0.41297	7.457000	0.59017	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.625000	0.32026	0.1582:0.3719:0.3473:0.1225	3.121	0.06006	17	0.98681	Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain	.	.	.	.	chr11:46702070	Likely benign	0	0	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	0.015136	0.000000	0.012228	0.023392	0.000000	0.025862	0.009146	0.030534	0.02632	916.33	39	chr11	46680520	.	G	A	916.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.668;DP=725;ExcessHet=0;FS=0.924;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.68;ReadPosRankSum=-0.559;SOR=0.859	GT:AD:DP:GQ:PL	0/1:32,35:67:99:930,0,919	18	0	1	0
chr11	47571628	47571628	G	C	exonic	PTPMT1	.	stoploss	PTPMT1:NM_175732:exon4:c.G605C:p.X202S	.	429	1046	45	2	0	49	0.0228865	.	.	.	724472	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	.	.	0.0033	0.00479233	0.0048	0.0006	0.0021	0	0.0003	0.0031	0.0056	0.0206	0.0044889	694	154602	rs190036505	0.0045	0.0045	0.0040	0.0050	0.0216	0.0044	0.0044	0.0208	0.0205	0.0003	0.0034	0.0059	2.519e-05	0.0003	0.0097	0.0036	0.0057	0.0216	0.0033	0.0033	0.0030	0.0036	0.0176	0.0031	0.0030	0.0146	0.0135	0.0006	0	0.0064	0.0075	0	9.432e-05	0.0034	0.0038	0.0028	0.0176	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.19925	N	.	.	.	.	.	.	.	.	.	0.019	0.01911	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.708386	0.00033	T	-0.774067	0.02637	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	1.093886	0.14780	11.32	0.81204982214846133	0.13571	0.23723	0.22168	N	AEFDBI	.	.	.	0.427615056586219	0.62947	4.519161	0.117655390967351	0.45451	2.808114	0.999995454322416	0.74766	0.295142	0.05270	0	0.30413	0.05452	0	0.320204	0.05785	0	0.322829	0.05601	0	0.0548293	0.12563	5.71	3.83	0.43287	1.475000	0.35017	4.555000	0.43818	0.656000	0.54149	0.275000	0.25094	1.000000	0.68203	0.258000	0.23468	0.1734:0.0:0.8266:0.0	8.671	0.33314	10	0.99061	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009063	0.000000	0.008152	0.000000	0.000000	0.000000	0.024390	0.018939	0.02632	665.33	33	chr11	47571628	.	G	C	665.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.546;DP=680;ExcessHet=0;FS=2.503;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.55;ReadPosRankSum=1.65;SOR=0.336	GT:AD:DP:GQ:PL	0/1:25,28:53:99:679,0,678	18	0	1	0
chr11	47582409	47582409	G	A	exonic	NDUFS3	.	nonsynonymous SNV	NDUFS3:NM_004551:exon6:c.G568A:p.D190N	Leigh syndrome due to mitochondrial complex I deficiency, Autosomal recessive, Mitochondrial;Mitochondrial complex I deficiency, Autosomal recessive, X-linked dominant, Mitochondrial	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.820	0.409931679302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	0	1.375e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	0.993	0.65571	D	0.94	0.67560	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.955	0.99831	H	-2.18	0.86722	D	-4.68	0.79659	D	0.944	0.95139	0.972	0.96731	D	0.874	0.95827	D	10	0.96990573	0.96560	D	0.409932	0.93576	D	0.820	0.94238	0.854	0.95434	0.997857792206	0.99783	0.7786817528532826	0.77819	0.996152370031	0.74244	0.86248755455	0.91478	D	0.777606	0.94099	D	0.166052	0.70760	D	0.00074552	0.70385	D	0.998606860637665	0.94620	D	.	.	.	0.91972697	0.93221	0.95349807	0.98606	0.91972697	0.93222	0.95349807	0.98606	-13.979	0.92988	D	.	.	0.978	0.90700	P	.	.	5.549887	0.92040	32	0.99927741992339469	0.99163	0.97638	0.76075	D	AEFDBCI	0.954586	0.97179	D	1.10161587908791	0.98163	17.57607	1.03001059278736	0.99127	20.807	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.87	5.87	0.94266	9.585000	0.97377	11.859000	0.98275	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	20.206	0.98279	10	0.99061	NADH:ubiquinone oxidoreductase, 30kDa subunit|NADH:ubiquinone oxidoreductase, 30kDa subunit	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3102.33	33	chr11	47582409	.	G	A	3102.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.52;DP=840;ExcessHet=0;FS=10.539;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.77;ReadPosRankSum=-1.689;SOR=0.287	GT:AD:DP:GQ:PL	0/1:82,103:185:99:3116,0,2315	18	0	1	0
chr11	49981809	49981809	C	G	exonic	OR4C12	.	nonsynonymous SNV	OR4C12:NM_001005270:exon1:c.G693C:p.R231S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.00101041932848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.375e-06	7.527e-06	1.367e-06	1.382e-06	1.807e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.807e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.004	0.74150	D	0.319	0.32965	B	0.513	0.47989	P	0.000281	0.46590	U	0.000000	0.999892	0.19781	N	3.385	0.91502	M	8.15	0.00286	T	-5.47	0.85617	D	0.443	0.48134	-1.0201	0.23682	T	0.001	0.00467	T	10	0.2346729	0.40512	T	0.00101	0.01096	T	0.082	0.23913	0.546	0.66015	0.208816687407	0.20498	0.25538346230412046	0.25452	0.0143582820659	0.01365	0.280902445316	0.07618	T	0.00991	0.08988	T	-0.164013	0.26145	T	-0.47337	0.25154	T	0.979287505149841	0.72753	D	.	.	.	0.73349935	0.79921	0.5844385	0.75904	0.73349935	0.79923	0.5844385	0.75904	-7.463	0.57350	T	.	.	0.227	0.45966	B	.	.	2.022533	0.25704	16.86	0.99082414752547343	0.52002	0.03228	0.08240	N	AEFI	0.047257	0.07937	N	-0.277187101321075	0.30032	1.670798	-0.409429265658249	0.24720	1.355288	1.23947310401179E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.98	1.05	0.19280	-1.007000	0.03777	.	.	0.260000	0.18395	0.000000	0.06391	0.000000	0.08366	0.024000	0.12247	0.0:0.574:0.0:0.426	4.568	0.11590	224	0.91330	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08824	103.77	102	chr11	49981809	.	C	G	103.77	.	AC=3;AF=0.088;AN=34;BaseQRankSum=-2.788;DP=1506;ExcessHet=0.3672;FS=171.973;InbreedingCoeff=-0.1206;MLEAC=3;MLEAF=0.088;MQ=59.99;MQRankSum=0;QD=0.38;ReadPosRankSum=2.6;SOR=9.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,14:92:6:0|1:49981809_C_G:6,0,2392:49981809	14	0	3	2
chr11	56375950	56375950	A	0	exonic	OR8U1;OR8U8	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4211	775.27	278	chr11	56375950	.	A	*	775.27	.	AC=16;AF=0.421;AN=38;BaseQRankSum=5.68;DP=4836;ExcessHet=38.2876;FS=6.913;InbreedingCoeff=-0.9009;MLEAC=16;MLEAF=0.421;MQ=59.99;MQRankSum=0;QD=0.17;ReadPosRankSum=0.109;SOR=1.269	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:208,32:240:99:0|1:56375918_A_G:718,0,8638:56375918	3	0	16	0
chr11	56375951	56375951	T	0	exonic	OR8U1;OR8U8	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4444	490.26	278	chr11	56375951	.	T	*	490.26	.	AC=16;AF=0.444;AN=36;BaseQRankSum=4.1;DP=4828;ExcessHet=38.2876;FS=6.951;InbreedingCoeff=-0.9487;MLEAC=16;MLEAF=0.444;MQ=59.99;MQRankSum=0;QD=0.11;ReadPosRankSum=0.061;SOR=1.245	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:208,32:240:99:0|1:56375918_A_G:718,0,8638:56375918	2	0	16	1
chr11	56375953	56375953	A	0	exonic	OR8U1;OR8U8	.	.	.	.	429	642	47	0	404	451	0.0353118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4444	797.75	278	chr11	56375953	.	A	*	797.75	.	AC=16;AF=0.444;AN=36;BaseQRankSum=3.15;DP=4825;ExcessHet=38.2876;FS=6.913;InbreedingCoeff=-0.9487;MLEAC=16;MLEAF=0.444;MQ=59.99;MQRankSum=0;QD=0.18;ReadPosRankSum=0.371;SOR=1.28	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:208,32:240:99:0|1:56375918_A_G:718,0,8638:56375918	2	0	16	1
chr11	56412815	56412815	A	G	exonic	OR5AL1	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.848e-05	2.545e-05	2.475e-05	3.211e-05	0.0001	1.283e-05	8.6e-06	5.06e-06	2.4e-06	0.0001	0	0	0	0	0	1.902e-05	0.0002	0	6.573e-06	6.566e-06	1.286e-05	0	2.407e-05	0	0	.	.	2.407e-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	.	.	.	.	.	.	.	.	0.1111	476.1	34	chr11	56412815	.	A	G	476.1	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-3.211;DP=2251;ExcessHet=0.7564;FS=90.684;InbreedingCoeff=-0.1374;MLEAC=4;MLEAF=0.111;MQ=60;MQRankSum=0;QD=0.88;ReadPosRankSum=1.61;SOR=10.773	GT:AD:DP:GQ:PL	0/1:128,31:159:22:22,0,2933	14	0	4	1
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	.	.	.	.	.	.	.	.	0.3421	5859.65	112	chr11	61740527	.	G	C	5859.65	.	AC=13;AF=0.342;AN=38;BaseQRankSum=-2.763;DP=1817;ExcessHet=17.0548;FS=279.402;InbreedingCoeff=-0.5834;MLEAC=13;MLEAF=0.342;MQ=60;MQRankSum=0;QD=4.33;ReadPosRankSum=0.839;SOR=12.095	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,36:111:99:0|1:61740527_G_C:639,0,2264:61740527	6	0	13	0
chr11	61740531	61740531	T	C	exonic	DAGLA	.	nonsynonymous SNV	DAGLA:NM_006133:exon18:c.T1922C:p.I641T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.403	0.0197228382319	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.054e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.34095	T	0.015	0.61642	D	0.948	0.53620	P	0.588	0.50402	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.7	0.43825	L	1.82	0.25018	T	-2.3	0.51157	N	0.794	0.79022	-1.0707	0.09260	T	0.080	0.31675	T	10	0.8145296	0.80704	D	0.019723	0.42154	T	0.403	0.71636	0.74	0.87232	0.236619781664	0.23270	0.7000053541781993	0.69941	0.918852446908	0.71372	0.869591116905	0.92510	D	0.336126	0.70567	T	0.210662	0.74892	D	0.0648253	0.74565	D	0.952781975269318	0.63873	D	0.952105	0.81652	D	0.31849626	0.54512	0.2169086	0.46336	0.31849626	0.54512	0.2169086	0.46335	-9.563	0.71251	D	.	.	0.611	0.69337	P	.	.	4.584081	0.72443	25.8	0.99816410860115734	0.89973	0.98810	0.87149	D	AEFBI	0.685886	0.64774	D	0.421747977381816	0.62620	4.480836	0.433105891452527	0.63640	4.601745	0.999999987493739	0.74766	0.67177	0.52595	0	0.55458	0.17659	0	0.702456	0.68683	0	0.683762	0.67416	0	.	.	4.41	4.41	0.52588	6.166000	0.71739	6.033000	0.52942	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	13.945	0.63586	745	0.52414	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	7196.89	114	chr11	61740531	.	T	C	7196.89	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-1.001;DP=1904;ExcessHet=31.086;FS=256.929;InbreedingCoeff=-0.8097;MLEAC=17;MLEAF=0.447;MQ=60;MQRankSum=0;QD=4.37;ReadPosRankSum=0.515;SOR=12.508	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,35:108:99:0|1:61740527_G_C:638,0,2238:61740527	2	0	17	0
chr11	63466306	63466306	C	T	exonic	PLAAT5	.	nonsynonymous SNV	PLAAT5:NM_001146728:exon5:c.G551A:p.R184H,PLAAT5:NM_001146729:exon5:c.G521A:p.R174H,PLAAT5:NM_054108:exon5:c.G551A:p.R184H	.	421	1099	2	0	0	2	0.000909091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	.	.	0.00239617	0.0011	0	0.0002	0.0001	0	2.998e-05	0	0.0075	0.0009056	140	154602	rs200627293	0.0004	0.0004	0.0003	0.0006	0.0069	0.0004	0.0004	0.0064	0.0062	2.987e-05	4.472e-05	0	0	0	0.0007	1.079e-05	0.0004	0.0069	0.0002	0.0002	3.855e-05	0.0004	0.0064	0.0002	0.0001	0.0047	0.0040	2.407e-05	0	0	0	0.0002	0	0	0	0	0.0064	0.127	0.27080	T	0.145	0.33000	T	0.029	0.19866	B	0.013	0.16460	B	0.013633	0.28781	N	0.364170	1	0.08975	N	1.14	0.29013	L	1.96	0.22270	T	-1.36	0.37759	N	0.145	0.21056	-1.0317	0.19905	T	0.032	0.13548	T	10	0.0107985735	0.00239	T	.	.	.	0.021	0.04004	0.591	0.71999	0.233150807113	0.22925	0.5179243096022697	0.51715	0.259433600952	0.28498	0.28881508112	0.08750	T	0.005739	0.05188	T	-0.571016	0.00218	T	-0.589276	0.13728	T	0.0369290417692184	0.03144	T	0.262774	0.05813	T	0.050725106	0.09208	0.049272817	0.07496	0.050725106	0.09207	0.049272817	0.07496	-6.153	0.50540	T	.	.	0.094	0.24967	B	.;.;.	.;.;.	2.584937	0.33519	19.36	0.98416020714354513	0.41234	0.04346	0.09911	N	AEFBI	0.084744	0.17177	N	-0.756824713002467	0.14448	0.7198043	-0.752946222679459	0.15651	0.8241465	1.82663893289753E-5	0.02871	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.530356	0.10902	0	.	.	4.16	1.28	0.20656	-0.151000	0.10160	0.030000	0.13718	0.599000	0.40250	0.000000	0.06391	0.002000	0.18203	0.966000	0.53164	0.0:0.6736:0.0:0.3264	5.998	0.18732	459	0.78817	.;.;LRAT-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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1483.33	34	chr11	63466306	.	C	T	1483.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.27;DP=742;ExcessHet=0;FS=5.825;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.24;ReadPosRankSum=-0.198;SOR=1.076	GT:AD:DP:GQ:PL	0/1:58,54:112:99:1497,0,1353	18	0	1	0
chr11	63671320	63671320	G	A	exonic	ATL3	.	stopgain	ATL3:NM_015459:exon1:c.C16T:p.R6X	Neuropathy, hereditary sensory, type IF, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	570760	Neuropathy,_hereditary_sensory,_type_1F	MONDO:MONDO:0014286,MedGen:C3810194,OMIM:615632,Orphanet:36386	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1455374554	1.393e-06	5.472e-06	1.385e-06	1.401e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	0	1.192e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008525	0.30795	N	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.139	0.13769	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.510359	0.94595	D	0.495319	0.94515	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	10.192639	0.99626	45	0.99804303617409595	0.88906	0.63353	0.32063	D	ALL	0.146007	0.26935	N	0.571614177862952	0.71407	5.646242	0.381830761315186	0.60444	4.232161	0.999999999996199	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.519653	0.09787	0	0.372554	0.06265	0	.	.	4.23	2.11	0.26299	2.794000	0.47545	7.899000	0.73451	0.569000	0.28856	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.4054:0.5946:0.0	9.958	0.40848	431	0.80762	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1096.33	34	chr11	63671320	.	G	A	1096.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.996;DP=677;ExcessHet=0;FS=2.176;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.87;ReadPosRankSum=-0.139;SOR=0.443	GT:AD:DP:GQ:PL	0/1:22,43:65:99:1110,0,416	18	0	1	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	0.02632	1003.33	42	chr11	64344322	.	G	A	1003.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.04;DP=842;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.67;ReadPosRankSum=1.43;SOR=0.651	GT:AD:DP:GQ:PL	0/1:47,39:86:99:1017,0,1213	18	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	0.02632	1116.33	34	chr11	64352209	.	C	T	1116.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.692;DP=713;ExcessHet=0;FS=3.143;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.09;ReadPosRankSum=0.68;SOR=0.492	GT:AD:DP:GQ:PL	0/1:31,43:74:99:1130,0,793	18	0	1	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	.	.	.	.	.	.	.	.	0.02632	1697.33	33	chr11	65172786	.	C	T	1697.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.24;DP=766;ExcessHet=0;FS=3.41;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.63;ReadPosRankSum=0.24;SOR=1.071	GT:AD:DP:GQ:PL	0/1:56,60:116:99:1711,0,1396	18	0	1	0
chr11	65794087	65794087	G	A	exonic	OVOL1	.	nonsynonymous SNV	OVOL1:NM_004561:exon2:c.G157A:p.E53K	.	426	1088	6	2	0	10	0.00457457	.	.	.	2813359	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.057	0.0127998407463	0.0002	0.00199681	0.0007	0	0.0010	0	0	0.0002	0	0.0040	0.0006533	101	154602	rs201370492	0.0004	0.0004	0.0002	0.0005	0.0049	0.0003	0.0003	0.0034	0.0030	0.0001	0.0006	0	2.519e-05	0	0.0049	0.0001	0.0003	0.0034	0.0004	0.0004	0.0003	0.0005	0.0052	0.0003	0.0003	0.0036	0.0031	2.406e-05	0	0.0013	0	0	0	0	0.0002	0	0.0052	0.065	0.36310	T	0.589	0.08245	T	0.955	0.54515	P	0.153	0.34292	B	0.050515	0.23064	N	0.365437	0.999996	0.58761	D	1.5	0.37844	L	3.08	0.08460	T	-0.94	0.25118	N	0.315	0.35514	-0.8553	0.51599	T	0.008	0.02760	T	10	0.00543198	0.00120	T	0.013	0.31686	T	0.057	0.16321	.	.	0.450506546316	0.44672	0.24423874313641314	0.24337	0.745069764327	0.63466	0.631929337978	0.57418	T	0.297516	0.67011	T	-0.491132	0.00641	T	-0.480675	0.24375	T	0.0275474677482568	0.01622	T	0.825917	0.48908	T	0.14914887	0.34016	0.11708981	0.28266	0.14914887	0.34016	0.11708981	0.28265	-4.98	0.36622	T	.	.	0.228	0.46013	B	.	.	4.444589	0.69033	25.3	0.9963349656335091	0.76203	0.54748	0.29692	D	AEFDBI	0.185198	0.31253	N	0.061059605862301	0.44653	2.735408	0.159425875071339	0.47643	2.992	0.999996726975471	0.74766	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	4.95	4.95	0.64894	2.309000	0.43359	11.817000	0.97118	0.676000	0.76740	0.725000	0.28872	1.000000	0.68203	0.782000	0.36987	0.0:0.0:1.0:0.0	13.714	0.62163	248	0.90287	.	.	.	.	.	.	Likely benign	0	0	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	0.002717	0.017544	0.000000	0.008621	0.003049	0.003788	0.02632	1928.33	43	chr11	65794087	.	G	A	1928.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.08;DP=894;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.03;ReadPosRankSum=-1.586;SOR=0.707	GT:AD:DP:GQ:PL	0/1:75,73:148:99:1942,0,1749	18	0	1	0
chr11	66070569	66070569	C	G	exonic	PACS1	.	nonsynonymous SNV	PACS1:NM_018026:exon1:c.C83G:p.S28C	Schuurs-Hoeijmakers syndrome, Autosomal dominant	385	1136	1	0	0	1	0.000439947	.	.	.	207888	not_specified|Inborn_genetic_diseases|PACS1-related_disorder	MedGen:CN169374|MeSH:D030342,MedGen:C0950123|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.053	0.1477733243	.	.	0.0026	0	0	0	0	0	0	0.0037	0.0001552	24	154602	rs763294619	0.0002	0.0002	0.0002	0.0003	0.0034	0.0002	0.0002	0.0030	0.0029	3.726e-05	0	0	3.488e-05	0	0.0007	4.366e-05	0.0002	0.0034	0.0001	0.0001	0.0001	0.0001	0.0031	8.198e-05	6.749e-05	0.0019	0.0016	0	0	0	0	0	0	0	4.429e-05	0.0005	0.0031	0.0	0.91255	D	0.085	0.41074	T	0.9	0.49598	P	0.089	0.29769	B	0.112124	0.19371	N	0.277584	0.986256	0.24634	N	0.895	0.22405	L	1.88	0.23884	T	-0.27	0.11366	N	0.236	0.26596	-1.0977	0.04380	T	0.045	0.19234	T	10	0.008917958	0.00202	T	0.147773	0.82976	D	0.053	0.14996	0.188	0.09776	0.151262610727	0.14761	0.17392962500123596	0.17312	1.36435413803	0.84409	0.914445996284	0.97872	D	0.022775	0.17502	T	-0.462334	0.00951	T	-0.439623	0.28852	T	0.191782791393195	0.19949	T	0.484552	0.14745	T	0.24131316	0.47045	0.2851111	0.54512	0.24131316	0.47045	0.2851111	0.54511	-7.557	0.58010	D	.	.	0.137	0.29779	B	.	.	3.490317	0.48778	22.7	0.96282798081611931	0.29286	0.29298	0.23785	N	AEFDGBHCI	0.075207	0.15097	N	-0.23768387067811	0.31598	1.77339	-0.245793043928377	0.29917	1.68003	0.999999952709011	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.391439	0.06340	0	0.249971	0.05119	0	.	.	2.94	2.94	0.33188	2.935000	0.48657	5.213000	0.47973	0.219000	0.18061	0.469000	0.26714	1.000000	0.68203	0.507000	0.29175	0.0:1.0:0.0:0.0	9.466	0.37980	319	0.87030	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001091	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007752	0.05263	574.83	35	chr11	66070569	.	C	G	574.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.98;DP=464;ExcessHet=0.119;FS=6.032;InbreedingCoeff=-0.0557;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.85;ReadPosRankSum=0.704;SOR=1.569	GT:AD:DP:GQ:PL	0/1:20,12:32:99:342,0,479	17	0	2	0
chr11	66332317	66332317	C	T	exonic	RIN1	.	nonsynonymous SNV	RIN1:NM_001363559:exon10:c.G2227A:p.G743R,RIN1:NM_001363560:exon10:c.G2125A:p.G709R,RIN1:NM_004292:exon10:c.G2311A:p.G771R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00710743652161	.	.	4.119e-05	0	0	0	0	0	0	0.0003	3.23e-05	5	154602	rs747902529	1.368e-05	1.368e-05	9.529e-06	1.788e-05	0.0002	8.94e-06	7.26e-06	0.0001	0.0001	0	0	0	0	0	0	0	3.311e-05	0.0002	6.568e-06	6.566e-06	1.284e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.431	0.09866	T	0.897	0.03223	T	0.001	0.07471	B	0.0	0.01387	B	0.029505	0.01704	N	2.719210	1	0.19363	N	0.255	0.09829	N	3.2	0.12988	T	-0.64	0.18670	N	0.067	0.15749	-1.0142	0.25593	T	0.018	0.07612	T	10	0.033011496	0.01466	T	0.007107	0.18841	T	0.019	0.03383	0.161	0.06507	0.137902524267	0.13322	0.045113000013523155	0.04455	0.737707930664	0.63074	0.286919772625	0.08476	T	0.121428	0.44437	T	-0.541565	0.00328	T	-0.719505	0.04819	T	0.103139874634945	0.12699	T	0.644436	0.25592	T	0.034698047	0.03943	0.027223982	0.00861	0.034698047	0.03943	0.027223982	0.00860	-4.261	0.27627	T	.	.	0.081	0.09481	B	.;.	.;.	2.154905	0.27447	17.47	0.99460425101190719	0.65788	0.04022	0.09455	N	AEFDBI	0.032295	0.03618	N	-1.10035587429448	0.06638	0.3061148	-1.08478769345303	0.07999	0.3914287	0.997205271388731	0.35373	0.732398	0.92422	0	0.588066	0.40923	0	0.723109	0.80598	0	0.727631	0.95156	0	.	.	4.14	-0.275	0.12268	-0.113000	0.10745	1.122000	0.24252	0.599000	0.40250	0.000000	0.06391	0.007000	0.19602	0.046000	0.14843	0.1756:0.4958:0.0:0.3287	3.500	0.07231	63	0.97314	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1211.33	34	chr11	66332317	.	C	T	1211.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.778;DP=726;ExcessHet=0;FS=0.76;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=-0.757;SOR=0.816	GT:AD:DP:GQ:PL	0/1:53,49:102:99:1225,0,1347	18	0	1	0
chr11	66693373	66693373	G	A	exonic	SPTBN2	.	nonsynonymous SNV	SPTBN2:NM_006946:exon24:c.C4667T:p.A1556V	Spinocerebellar ataxia 5, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 14, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	1984416	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.077	0.00782639383867	.	0.000798722	0.0004	0	0	0	0	4.587e-05	0	0.0025	0.0003299	51	154602	rs191457765	0.0002	0.0002	8.507e-05	0.0003	0.0026	0.0002	0.0001	0.0023	0.0022	0	0	0	0	0	0.0003	1.439e-05	9.945e-05	0.0026	0.0001	0.0001	8.991e-05	0.0001	0.0025	7.569e-05	6.275e-05	0.0014	0.0011	2.405e-05	0	0	0	0	0	0	7.349e-05	0	0.0025	0.088	0.33585	T	0.226	0.25438	T	0.004	0.12183	B	0.016	0.17743	B	0.612147	0.10856	N	0.826822	1	0.08975	N	1.43	0.35840	L	0.74	0.50459	T	-0.74	0.20791	N	0.154	0.15888	-0.9489	0.41160	T	0.132	0.44307	T	10	0.006809652	0.00155	T	0.007826	0.20773	T	0.077	0.22490	.	.	0.436533834345	0.43271	0.0878304321849126	0.08716	0.406051081287	0.41486	0.52974653244	0.42998	T	0.193443	0.54891	T	-0.590914	0.00166	T	-0.627441	0.10609	T	0.0275704232263624	0.01626	T	0.620138	0.23804	T	0.038565	0.05163	0.048762448	0.07311	0.041240074	0.06037	0.045061216	0.05978	-5.634	0.43426	T	0.1648710537462691	0.20402	0.082	0.09288	B	.;.;.	.;.;.	1.633254	0.20848	14.94	0.98390957434358928	0.40957	0.70356	0.34557	D	AEFDBI	0.167343	0.29400	N	-0.559841410495158	0.20176	1.061701	-0.599986008561152	0.19492	1.046106	0.0691869918184412	0.15482	0.67177	0.52595	0	0.588015	0.36545	0	0.702456	0.68683	0	0.699875	0.68795	0	.	.	4.01	2.12	0.26372	2.110000	0.41497	2.336000	0.32225	0.672000	0.70159	0.220000	0.24536	0.097000	0.22620	0.001000	0.02609	0.2939:0.0:0.7061:0.0	7.469	0.26508	221	0.91431	.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.002924	0.000000	0.000000	0.003049	0.003788	0.02632	568.33	37	chr11	66693373	.	G	A	568.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.296;DP=716;ExcessHet=0;FS=2.143;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.61;ReadPosRankSum=-0.493;SOR=1.022	GT:AD:DP:GQ:PL	0/1:42,24:66:99:582,0,1071	18	0	1	0
chr11	66705304	66705304	G	A	exonic	SPTBN2	.	nonsynonymous SNV	SPTBN2:NM_006946:exon15:c.C1972T:p.R658W	Spinocerebellar ataxia 5, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 14, Autosomal recessive	0	1491	30	1	0	32	0.0106171	.	.	.	314797	SPTBN2-related_disorder|Autosomal_dominant_cerebellar_ataxia|not_specified|not_provided	.|MONDO:MONDO:0020380,MedGen:C4087347,OMIM:PS164400,Orphanet:99|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.477	0.110598423344	0.0011	0.00179712	0.0028	0.0003	0.0005	0	0.0031	0.0024	0.0032	0.0079	0.0019534	302	154602	rs199968321	0.0017	0.0017	0.0015	0.0019	0.0074	0.0016	0.0016	0.0069	0.0067	0.0003	0.0003	0.0061	0	0.0020	0.0056	0.0012	0.0018	0.0074	0.0012	0.0012	0.0011	0.0014	0.0066	0.0011	0.0010	0.0048	0.0042	0.0002	0	0.0003	0.0058	0	0.0010	0.0204	0.0016	0.0014	0.0066	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.997	0.86255	D	0.000002	0.62929	D	0.000000	1	0.81001	D	2.565	0.75005	M	0.66	0.52416	T	-5.63	0.86836	D	0.592	0.65673	-0.3892	0.72368	T	0.303	0.67437	T	10	0.011531532	0.00252	T	0.110598	0.78804	D	0.477	0.76881	.	.	0.437548520547	0.43377	0.5852234101085948	0.58452	1.25880593895	0.81978	0.752330958843	0.74790	T	0.604364	0.87367	D	-0.197769	0.21128	T	-0.0528525	0.66826	D	0.042728208032078	0.04188	T	0.932607	0.74787	D	0.8714494	0.88977	0.91654706	0.96154	0.9445349	0.95709	0.9151603	0.96056	-8.89	0.66985	D	0.8221557097815095	0.89491	0.222	0.45359	B	.;.;.	.;.;.	4.527705	0.71055	25.6	0.9992227400918956	0.98852	0.97883	0.77847	D	AEFDGBI	0.708837	0.66312	D	0.584913705328402	0.72234	5.773513	0.521883338574037	0.69466	5.36426	0.999999999998098	0.74766	0.695654	0.57023	0	0.610034	0.51514	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	4.55	4.55	0.55429	1.541000	0.35732	6.480000	0.55735	0.618000	0.50648	0.985000	0.35982	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	16.222	0.82086	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	0.007568	0.005155	0.004076	0.008772	0.000000	0.000000	0.012195	0.011364	0.02632	941.33	39	chr11	66705304	.	G	A	941.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.742;DP=753;ExcessHet=0;FS=13.95;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.18;ReadPosRankSum=-2.781;SOR=1.243	GT:AD:DP:GQ:PL	0/1:28,34:62:99:955,0,684	18	0	1	0
chr11	67608412	67608412	C	G	exonic	NDUFV1	.	nonsynonymous SNV	NDUFV1:NM_001166102:exon2:c.C62G:p.T21S,NDUFV1:NM_007103:exon2:c.C89G:p.T30S	Mitochondrial complex I deficiency, Autosomal recessive, X-linked dominant, Mitochondrial	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.249	0.0237339634623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.202	0.21634	T	0.231	0.25438	T	0.005	0.12996	B	0.007	0.16460	B	0.000081	0.52346	D	0.167753	0.999951	0.81001	D	1.735	0.44892	L	-1.19	0.78427	T	-1.01	0.48850	N	0.342	0.40465	-0.4870	0.69115	T	0.348	0.71289	T	10	0.3319496	0.50409	T	0.023734	0.46713	T	0.249	0.55752	0.257	0.19845	0.822129434029	0.82045	0.6979377297507748	0.69734	0.238803893762	0.26431	0.763441562653	0.76443	T	0.245562	0.61488	T	-0.078465	0.39963	T	-0.350486	0.39149	T	0.744090855121613	0.42959	D	0.776122	0.40827	T	0.107709534	0.25468	0.062265858	0.12156	0.107709534	0.25468	0.062265858	0.12155	-6.651	0.51440	T	.	.	0.082	0.26576	B	.;.;.;.;.;.	.;.;.;.;.;.	3.411859	0.47334	22.4	0.98490803181232456	0.42096	0.97411	0.74579	D	AEFBI	0.809988	0.73335	D	0.0583570156422493	0.44526	2.725182	0.196330027643671	0.49646	3.165261	0.999999985050494	0.74766	0.732398	0.92422	0	0.685571	0.66316	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.77	3.84	0.43422	5.647000	0.67597	4.850000	0.45366	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.9063:0.0:0.0937	11.086	0.47306	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	.	.	.	.	.	.	.	.	0.2143	556.75	153	chr11	67608412	.	C	G	556.75	.	AC=6;AF=0.214;AN=28;BaseQRankSum=-4.434;DP=2846;ExcessHet=2.0135;FS=131.701;InbreedingCoeff=-0.3119;MLEAC=8;MLEAF=0.286;MQ=60;MQRankSum=0;QD=0.54;ReadPosRankSum=2.15;SOR=11.518	GT:AD:DP:GQ:PL	0/1:143,32:179:29:29,0,2908	8	0	6	5
chr11	74457436	74457436	G	A	exonic	KCNE3	.	nonsynonymous SNV	KCNE3:NM_005472:exon3:c.C128T:p.T43I	Brugada syndrome 6	.	.	.	.	.	.	.	.	.	.	3687354	Cardiovascular_phenotype	MedGen:CN230736	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.115	0.0507872599031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	1.361e-06	0	2.236e-05	0	0	.	.	0	2.236e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.026	0.55759	D	0.001	0.07471	B	0.005	0.11217	B	0.067248	0.21754	N	0.461220	0.809135	0.34616	D	1.04	0.26193	L	-2.24	0.87194	D	-2.17	0.87380	N	0.112	0.17140	-0.2750	0.75676	T	0.488	0.80510	T	10	0.10621372	0.19672	T	0.050787	0.64388	D	0.115	0.32236	0.154	0.05752	0.916206938999	0.91536	0.7769852440336098	0.77648	0.171069554793	0.19272	0.541518092155	0.44659	T	0.292122	0.66485	T	-0.0384958	0.46172	T	-0.293073	0.45452	T	0.208157509565353	0.20857	T	0.675032	0.35555	T	0.07456659	0.16742	0.11749837	0.28364	0.07456659	0.16742	0.11749837	0.28363	-6.965	0.53778	T	0.21400784234455186	0.28746	0.137	0.33435	B	.;.;.;.;.	.;.;.;.;.	2.462965	0.31732	18.83	0.99760698293559735	0.85011	0.42635	0.26922	N	AEFDBI	0.282001	0.39544	N	-0.567127880073821	0.19950	1.048096	-0.545289632528768	0.20931	1.129949	0.999859514628779	0.44174	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.37	2.45	0.28953	1.007000	0.29462	5.154000	0.47766	0.676000	0.76740	0.001000	0.13787	1.000000	0.68203	0.916000	0.45140	0.1632:0.1473:0.6895:0.0	6.734	0.22585	460	0.78750	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1825.33	39	chr11	74457436	.	G	A	1825.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.738;DP=807;ExcessHet=0;FS=1.353;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=-1.051;SOR=0.557	GT:AD:DP:GQ:PL	0/1:69,70:139:99:1839,0,1843	18	0	1	0
chr11	75005458	75005458	C	T	exonic	NEU3	.	nonsynonymous SNV	NEU3:NM_001367864:exon2:c.C140T:p.S47L,NEU3:NM_001367863:exon3:c.C140T:p.S47L,NEU3:NM_006656:exon3:c.C352T:p.R118W,NEU3:NM_001367860:exon4:c.C352T:p.R118W,NEU3:NM_001367865:exon4:c.C352T:p.R118W	.	.	.	.	.	.	.	.	.	.	.	3350266	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.280	0.0652094341948	0.0004	.	0.0002	0	0	0	0	0.0003	0.0012	0	0.0001358	21	154602	rs199990681	0.0001	0.0001	0.0001	0.0001	0.0010	0.0001	0.0001	0.0005	0.0003	2.987e-05	4.475e-05	0.0020	0	0	0.0010	0.0001	0.0002	8.119e-05	9.857e-05	9.851e-05	7.709e-05	0.0001	0.0001	6.007e-05	4.88e-05	4.764e-05	3.339e-05	2.413e-05	0	0	0.0020	0	0	0	0.0001	0	0	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.000000	0.84330	D	0.052975	1	0.81001	D	.	.	.	-2.34	0.87989	D	-7.89	0.96166	D	0.77	0.88137	0.137	0.84834	D	0.518	0.81961	D	10	0.76670057	0.76760	D	0.065209	0.69511	D	0.856	0.95581	.	.	0.862058417021	0.86072	0.9480969160236534	0.94792	0.308637158166	0.33177	0.649385631084	0.59899	T	.	.	.	0.25409	0.78982	D	0.391634	0.91836	D	0.988756120204926	0.79047	D	0.983602	0.94423	D	.	.	.	.	.	.	.	.	-9.439	0.70479	D	.	.	0.686	0.72380	P	.;.	.;.	5.310730	0.89155	29.9	0.9992130675053067	0.98787	0.98824	0.87336	D	AEFGBCI	0.901747	0.84881	D	0.675068839880008	0.77999	6.783989	0.700922996869671	0.82450	7.769608	0.999999999938857	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.34	5.34	0.75982	6.172000	0.71841	4.829000	0.45183	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:1.0:0.0:0.0	16.589	0.84612	805	0.43675	Sialidase;Sialidase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000506	0.000000	0.000000	0.000000	0.000000	0.000000	0.003086	0.000000	0.02632	1519.33	33	chr11	75005458	.	C	T	1519.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.11;DP=783;ExcessHet=0;FS=2.237;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.55;ReadPosRankSum=-0.332;SOR=0.5	GT:AD:DP:GQ:PL	0/1:84,60:144:99:1533,0,2151	18	0	1	0
chr11	76535964	76535964	A	T	exonic	EMSY	.	nonsynonymous SNV	EMSY:NM_001300943:exon15:c.A2267T:p.E756V,EMSY:NM_020193:exon15:c.A2264T:p.E755V,EMSY:NM_001300942:exon16:c.A2309T:p.E770V,EMSY:NM_001300944:exon16:c.A2309T:p.E770V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.0164468981186	0.0003	.	0.0002	0	0	0	0	0.0003	0	0	0.0001488	23	154602	rs144798466	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0003	0.0002	6.031e-05	0	0	0	1.885e-05	0.0002	0.0003	0.0003	4.716e-05	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	9.727e-05	0.0002	0.0002	4.84e-05	0	0	0	0	0	0	0.0003	0.0010	0	0.002	0.72154	D	0.064	0.46862	T	0.18	0.33905	B	0.025	0.22909	B	0.000016	0.62929	D	0.149811	1.000	0.81001	D	0.805	0.20218	L	0.63	0.53088	T	-1.57	0.44657	N	0.38	0.56058	-1.0308	0.20195	T	0.085	0.33269	T	10	0.09516856	0.16977	T	0.016447	0.37712	T	0.160	0.41473	.	.	0.043077524339	0.03247	0.2992723688352346	0.29840	0.759636425302	0.64181	.	.	.	0.02583	0.33778	T	-0.223999	0.17451	T	-0.259211	0.48903	T	0.230640550804925	0.21982	T	0.961004	0.90967	D	0.25466463	0.48497	0.27957344	0.53927	0.25466463	0.48497	0.27957344	0.53926	-7.885	0.62229	D	.	.	0.662	0.75705	P	.;.;.;.;.;.	.;.;.;.;.;.	4.934125	0.81377	27.5	0.98967359699760404	0.49461	0.95399	0.64567	D	AEFDBI	0.642033	0.61915	D	0.0729489068713515	0.45204	2.780862	0.267907934938121	0.53674	3.535298	0.974368205297963	0.29536	0.651	0.46895	0	0.708844	0.79440	0	0.608884	0.39905	0	0.683762	0.67416	0	.	.	5.57	5.57	0.84021	6.627000	0.74121	11.263000	0.91145	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	15.748	0.77725	845	0.36510	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1997.33	34	chr11	76535964	.	A	T	1997.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.537;DP=802;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.87;ReadPosRankSum=0.266;SOR=0.645	GT:AD:DP:GQ:PL	0/1:59,85:144:99:2011,0,1291	18	0	1	0
chr11	78669843	78669843	C	T	exonic	TENM4	.	nonsynonymous SNV	TENM4:NM_001098816:exon32:c.G6502A:p.V2168I	Tremor, hereditary essential, 5, Autosomal dominant	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.245	0.0192745296098	7.9e-05	0.000599042	0.0003	0	0.0002	0.0002	0.0005	6.036e-05	0	0.0013	0.0002329	36	154602	rs200474747	0.0001	0.0002	0.0001	0.0002	0.0009	0.0001	0.0001	0.0007	0.0007	0	0.0001	0	2.519e-05	3.746e-05	0	0.0001	4.969e-05	0.0009	8.538e-05	8.531e-05	6.425e-05	0.0001	0.0006	4.955e-05	3.961e-05	0.0002	8.996e-05	4.811e-05	0	6.539e-05	0	0.0002	9.438e-05	0	5.881e-05	0.0005	0.0006	0.82	0.04643	T	0.509	0.11190	T	0.999	0.77913	D	0.972	0.72692	D	0.000000	0.84330	D	0.000000	0.999978	0.53665	D	0.425	0.12573	N	-2.49	0.89145	D	0.08	0.07299	N	0.48	0.51494	0.442	0.89719	D	0.739	0.91065	D	9	0.040608644	0.02644	T	0.019275	0.41600	T	0.245	0.55201	.	.	0.307950594193	0.30395	0.08901993282874977	0.08834	0.235873371727	0.26126	0.777805507183	0.78597	T	0.073211	0.34642	T	-0.198907	0.20963	T	-0.108934	0.62696	T	0.0684785740720763	0.08437	T	0.868313	0.57032	D	0.10226952	0.24165	0.095934056	0.22775	0.10226952	0.24165	0.095934056	0.22774	-2.227	0.04173	T	0.11308134665268375	0.09855	0.074	0.05890	B	.;.	.;.	4.574185	0.72201	25.8	0.99459966573311664	0.65736	0.95136	0.63570	D	AEFBI	0.540899	0.55727	D	0.591866300963387	0.72667	5.841844	0.600260961596119	0.74958	6.226699	0.995668540474371	0.34254	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.14	5.14	0.70008	5.999000	0.70334	3.389000	0.38055	0.596000	0.33519	1.000000	0.71638	0.998000	0.33993	0.804000	0.37906	0.0:1.0:0.0:0.0	18.808	0.92011	870	0.31527	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1767.33	33	chr11	78669843	.	C	T	1767.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=6.89;DP=807;ExcessHet=0;FS=14.416;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.78;ReadPosRankSum=1.79;SOR=1.332	GT:AD:DP:GQ:PL	0/1:103,61:164:99:1781,0,2510	18	0	1	0
chr11	94859554	94859554	G	C	exonic	AMOTL1	.	nonsynonymous SNV	AMOTL1:NM_001301007:exon8:c.G1824C:p.M608I,AMOTL1:NM_130847:exon9:c.G1974C:p.M658I	.	429	1084	9	0	0	9	0.00413413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.00369560749916	.	0.000199681	0.0001	0	0.0006	0	0	3.081e-05	0	0.0003	9.7e-05	15	154602	rs553703205	6.024e-05	6.088e-05	4.495e-05	7.569e-05	0.0005	4.965e-05	4.63e-05	0.0004	0.0003	5.987e-05	0.0005	0	0	0	0.0005	1.799e-05	0.0001	0.0004	3.283e-05	3.281e-05	1.285e-05	5.373e-05	0.0003	1.26e-05	7.98e-06	8.873e-05	5.283e-05	2.407e-05	0	0.0003	0	0	0	0	0	0	0	0.397	0.10588	T	0.256	0.23298	T	0.0	0.02946	B	0.001	0.04355	B	0.626763	0.10726	N	0.847299	1	0.18878	N	0.205	0.09354	N	2.33	0.16492	T	0.05	0.06369	N	0.114	0.10198	-0.9793	0.35162	T	0.024	0.10058	T	10	0.012263775	0.00264	T	0.003696	0.08527	T	0.046	0.12618	0.126	0.03173	0.139678290688	0.13603	0.22784242620508877	0.22699	0.21886707639	0.24425	0.313777118921	0.12478	T	0.006477	0.05912	T	-0.60574	0.00134	T	-0.77373	0.02648	T	0.00749378830832664	0.00087	T	0.152385	0.01298	T	0.0403018	0.05725	0.03093169	0.01613	0.0403018	0.05725	0.03093169	0.01612	-2.674	0.07847	T	.	.	0.094	0.27069	B	.;.	.;.	0.356599	0.07293	3.903	0.61386066780813964	0.06696	0.10276	0.15827	N	AEFBI	0.060558	0.11517	N	-0.887042163363177	0.11150	0.5365286	-0.846185019768306	0.13379	0.6937401	0.892119771954725	0.25876	0.719381	0.83141	0	0.610034	0.51514	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	6.08	3.16	0.35406	0.065000	0.14336	0.991000	0.23192	-0.123000	0.13640	0.002000	0.15269	0.979000	0.30280	0.030000	0.13115	0.0649:0.3328:0.3833:0.2191	5.500	0.16118	862	0.33134	.;Angiomotin, 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	.	.	.	.	.	.	.	.	0.02632	854.33	33	chr11	94859554	.	G	C	854.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.779;DP=673;ExcessHet=0;FS=1.039;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.26;ReadPosRankSum=-0.602;SOR=0.922	GT:AD:DP:GQ:PL	0/1:25,31:56:99:868,0,605	18	0	1	0
chr11	101894878	101894878	C	A	splicing	ANGPTL5	NM_178127:exon8:c.847+1G>T	.	.	.	.	.	.	.	.	.	.	1.0000	0.938	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.7e-05	.	4.995e-05	0	0	0	0	9.069e-05	0	0	3.88e-05	6	154602	rs146549224	6.171e-05	6.157e-05	5.868e-05	6.476e-05	0.0002	5.106e-05	4.726e-05	3.726e-05	3.379e-05	0	0	0.0010	0	0	0.0002	4.778e-05	0.0001	1.161e-05	5.917e-05	5.91e-05	7.71e-05	4.039e-05	8.821e-05	3.079e-05	2.211e-05	3.762e-05	2.575e-05	0	0	6.55e-05	0.0003	0	0	0	8.821e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.267739	0.80237	D	0.327108	0.89389	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.674637	0.74743	26.2	0.99238608326309208	0.56469	0.96383	0.68870	D	AEFBI	.	.	.	0.962408273024171	0.94464	12.77923	0.790413556669377	0.89120	9.845893	0.468120717507575	0.20683	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.894202	0.56145	5.38	4.46	0.53567	4.334000	0.59076	3.689000	0.39491	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.9285:0.0:0.0715	14.514	0.67394	720	0.55521	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	1544.83	41	chr11	101894878	.	C	A	1544.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.02;DP=699;ExcessHet=0.119;FS=4.011;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.85;ReadPosRankSum=-0.633;SOR=1.17	GT:AD:DP:GQ:PL	0/1:25,28:53:99:865,0,599	17	0	2	0
chr11	102083149	102083149	C	T	exonic	CFAP300	.	nonsynonymous SNV	CFAP300:NM_001363505:exon6:c.C682T:p.R228C,CFAP300:NM_032930:exon7:c.C754T:p.R252C	.	.	.	.	.	.	.	.	.	.	.	1673374	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.402	0.0196262632994	0.0002	.	0.0008	0	0	0	0.0095	0.0004	0.0055	0.0001	0.0006274	97	154602	rs199754694	0.0004	0.0004	0.0004	0.0004	0.0004	0.0004	0.0004	0.0001	0.0001	0	0	0	0	0.0077	0.0004	0.0001	0.0003	5.177e-05	0.0008	0.0008	0.0005	0.0011	0.0003	0.0007	0.0006	0.0002	0.0002	0	0	0	0	0	0.0093	0	0.0003	0	0.0002	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.996	0.84481	D	0.000009	0.62929	D	0.111228	1	0.81001	D	.	.	.	.	.	.	-6.48	0.91522	D	0.742	0.74189	0.160	0.85220	D	0.554	0.83714	D	9	0.01345405	0.00285	T	0.019626	0.42042	T	0.402	0.71558	.	.	0.397838977388	0.39401	0.6586120345125259	0.65798	0.296031586504	0.31989	.	.	.	0.450544	0.79162	T	0.0916386	0.63374	D	0.275824	0.86894	D	0.314283013343811	0.25589	T	0.90351	0.66162	D	0.55164206	0.70047	0.55351985	0.74180	0.5705614	0.71093	0.47705978	0.69703	-6.605	0.51092	T	0.8524982137200119	0.91826	0.356	0.56978	A	.	.	5.162112	0.86499	28.9	0.99896201395295592	0.96895	0.93366	0.58024	D	AEFI	0.616943	0.60332	D	0.723642464063522	0.81183	7.462696	0.652843280005214	0.78823	6.954376	0.154896683155306	0.17500	0.553676	0.25195	0	0.547309	0.14657	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.85	5.85	0.93663	4.524000	0.60267	5.955000	0.51719	0.547000	0.25779	1.000000	0.71638	1.000000	0.68203	0.599000	0.31363	0.0:1.0:0.0:0.0	19.761	0.96315	586	0.69252	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.1053	317.84	97	chr11	102083149	.	C	T	317.84	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-2.3;DP=944;ExcessHet=0.7564;FS=421.434;InbreedingCoeff=-0.1244;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=0.98;ReadPosRankSum=1.71;SOR=9.401	GT:AD:DP:GQ:PL	0/1:43,16:59:36:36,0,579	15	0	4	0
chr11	108244862	108244862	A	G	exonic	ATM	.	nonsynonymous SNV	ATM:NM_000051:exon7:c.A737G:p.N246S,ATM:NM_001351834:exon8:c.A737G:p.N246S	Ataxia-telangiectasia, Autosomal recessive;Lymphoma, B-cell non-Hodgkin, somatic (3);Lymphoma, mantle cell, somatic (3);T-cell prolymphocytic leukemia, somatic (3)	.	.	.	.	.	.	.	.	.	YES	525631	Familial_cancer_of_breast|not_provided|Ataxia-telangiectasia_syndrome|Hereditary_cancer-predisposing_syndrome|not_specified	MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535|MedGen:C3661900|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900,Orphanet:100|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.191	0.073393988328	.	.	8.243e-06	0	0	0	0	0	0	6.057e-05	6.5e-06	1	154602	rs781023264	6.842e-06	6.84e-06	6.807e-06	6.877e-06	2.523e-05	3.46e-06	2.52e-06	3.1e-06	2.24e-06	0	0	0	2.523e-05	0	0	7.195e-06	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.53172	D	0.079	0.49120	T	0.95	0.53885	P	0.542	0.48916	P	0.000000	0.84330	D	0.000000	0.965816	0.38491	D	2.42	0.70002	M	4.32	0.02387	T	-2.28	0.50830	N	0.759	0.76666	-1.0624	0.11166	T	0.017	0.07187	T	10	0.40145308	0.55596	T	0.073394	0.71777	D	0.191	0.46948	0.487	0.57098	0.972047490015	0.97174	0.4129519829091547	0.41211	0.441542982226	0.44134	0.430950969458	0.29338	T	0.164859	0.51048	T	-0.273567	0.11363	T	-0.533883	0.18901	T	0.883011817932129	0.53316	D	0.728327	0.35417	T	0.36955255	0.58552	0.23654792	0.48929	0.36955255	0.58553	0.23654792	0.48928	-3.262	0.13252	T	0.29735565993254826	0.39446	0.124	0.25946	B	.;.;.	.;.;.	3.614779	0.51120	23.0	0.99848451393999682	0.92838	0.98091	0.79521	D	AEFGBI	0.684579	0.64688	D	0.56724337511961	0.71138	5.605589	0.60794517947387	0.75518	6.324362	0.999991246305751	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	5.53	5.53	0.82530	6.687000	0.74383	6.063000	0.53189	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	1.0:0.0:0.0:0.0	15.954	0.79654	126	0.94940	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1591.33	35	chr11	108244862	.	A	G	1591.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.959;DP=750;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.6;ReadPosRankSum=-1.27;SOR=0.681	GT:AD:DP:GQ:PL	0/1:47,62:109:99:1605,0,1329	18	0	1	0
chr11	125102285	125102285	G	A	exonic	TMEM218	.	nonsynonymous SNV	TMEM218:NM_001258239:exon3:c.C62T:p.S21L,TMEM218:NM_001258242:exon3:c.C62T:p.S21L,TMEM218:NM_001258246:exon3:c.C62T:p.S21L,TMEM218:NM_001258243:exon4:c.C62T:p.S21L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.456e-05	0.0002	0	0	0	0	0	0	6.5e-06	1	154602	rs781050487	7.621e-06	8.893e-06	8.262e-06	6.971e-06	3.037e-05	4.09e-06	2.99e-06	3.83e-06	2.78e-06	3.037e-05	0	0	0	0	0	8.148e-06	1.677e-05	0	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1097.33	39	chr11	125102285	.	G	A	1097.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.408;DP=715;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.46;ReadPosRankSum=-0.86;SOR=0.656	GT:AD:DP:GQ:PL	0/1:29,42:71:99:1111,0,694	18	0	1	0
chr11	125895719	125895719	T	G	exonic	PUS3	.	nonsynonymous SNV	PUS3:NM_031307:exon3:c.A449C:p.E150A	.	428	1091	3	0	0	3	0.001373	.	.	.	1377611	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.059	0.0201199186758	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1322006941	2.738e-06	2.736e-06	5.448e-06	0	3.598e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.598e-06	0	0	6.57e-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	0.142	0.26192	T	0.517	0.22494	T	0.014	0.16867	B	0.033	0.22329	B	0.002013	0.37457	N	0.314114	1	0.08975	N	-0.055	0.04927	N	1.47	0.55608	T	-1.22	0.30964	N	0.18	0.19459	-1.0257	0.21853	T	0.069	0.28147	T	10	0.08035913	0.13033	T	0.02012	0.42647	T	0.059	0.16972	0.517	0.61763	0.348764635752	0.34483	0.43170024104543303	0.43087	0.104594457088	0.11836	0.279327899218	0.07398	T	0.004977	0.04407	T	-0.184763	0.23030	T	-0.503176	0.22018	T	0.164551615715027	0.18202	T	0.50025	0.15781	T	0.05121643	0.09374	0.03277899	0.02066	0.05121643	0.09373	0.03277899	0.02066	-2.331	0.04728	T	0.13243499383959262	0.14119	0.072	0.04558	B	.;.;.	.;.;.	0.393025	0.07645	4.312	0.80711648828633598	0.13332	0.32188	0.24524	N	AEFBI	0.079295	0.16015	N	-1.26499037950514	0.04105	0.1846325	-1.2626259659425	0.04946	0.2345617	0.999801711934781	0.43304	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.87	-1.41	0.08473	0.103000	0.15128	0.553000	0.19438	-0.133000	0.13014	0.000000	0.06391	0.000000	0.08366	0.023000	0.12082	0.0:0.3446:0.2147:0.4408	7.179	0.24938	795	0.45444	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2219.33	34	chr11	125895719	.	T	G	2219.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.368;DP=1059;ExcessHet=0;FS=14.968;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.15;ReadPosRankSum=-0.574;SOR=0.645	GT:AD:DP:GQ:PL	0/1:110,89:199:99:2233,0,3089	18	0	1	0
chr12	2585465	2585465	C	T	exonic	CACNA1C	.	nonsynonymous SNV	CACNA1C:NM_000719:exon17:c.C2429T:p.T810M,CACNA1C:NM_001129827:exon17:c.C2429T:p.T810M,CACNA1C:NM_001129829:exon17:c.C2429T:p.T810M,CACNA1C:NM_001129830:exon17:c.C2429T:p.T810M,CACNA1C:NM_001129831:exon17:c.C2429T:p.T810M,CACNA1C:NM_001129832:exon17:c.C2429T:p.T810M,CACNA1C:NM_001129833:exon17:c.C2429T:p.T810M,CACNA1C:NM_001129834:exon17:c.C2429T:p.T810M,CACNA1C:NM_001129835:exon17:c.C2429T:p.T810M,CACNA1C:NM_001129836:exon17:c.C2429T:p.T810M,CACNA1C:NM_001129837:exon17:c.C2429T:p.T810M,CACNA1C:NM_001129838:exon17:c.C2429T:p.T810M,CACNA1C:NM_001129839:exon17:c.C2429T:p.T810M,CACNA1C:NM_001129840:exon17:c.C2429T:p.T810M,CACNA1C:NM_001129841:exon17:c.C2429T:p.T810M,CACNA1C:NM_001129842:exon17:c.C2429T:p.T810M,CACNA1C:NM_001129843:exon17:c.C2429T:p.T810M,CACNA1C:NM_001129844:exon17:c.C2420T:p.T807M,CACNA1C:NM_001129846:exon17:c.C2429T:p.T810M,CACNA1C:NM_001167623:exon17:c.C2429T:p.T810M,CACNA1C:NM_001167624:exon17:c.C2429T:p.T810M,CACNA1C:NM_001167625:exon17:c.C2429T:p.T810M,CACNA1C:NM_199460:exon17:c.C2429T:p.T810M	Brugada syndrome 3;Timothy syndrome, Autosomal dominant	0	1520	2	0	0	2	0.000657462	.	.	.	1496690	Brugada_syndrome_3|Long_qt_syndrome_8|Timothy_syndrome|Cardiovascular_phenotype|Long_QT_syndrome	MONDO:MONDO:0012742,MedGen:C2678478,OMIM:611875,Orphanet:130|MONDO:MONDO:0032756,MedGen:CN260585,OMIM:618447|MONDO:MONDO:0010979,MeSH:C536962,MedGen:C1832916,OMIM:601005,Orphanet:65283|MedGen:CN230736|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.503	0.0568166057925	.	.	2.328e-05	0	0	0	0	0	0	0.0001	3.84e-05	1	26028	rs772235214	1.823e-05	1.984e-05	1.944e-05	1.699e-05	0.0002	1.268e-05	1.077e-05	1.234e-05	1.047e-05	0	0	0	2.611e-05	0	0.0002	1.921e-05	1.695e-05	2.441e-05	3.943e-05	3.94e-05	1.285e-05	6.726e-05	7.351e-05	1.716e-05	1.13e-05	2.847e-05	1.858e-05	2.413e-05	0	0	0	0	0	0	7.351e-05	0	0	0.04	0.45039	D	0.153	0.32249	T	0.975	0.90584	D	0.584	0.88582	P	0.000364	0.00582	N	4.652110	1	0.81001	D	2.28	0.64929	M	-3.92	0.96308	D	-1.5	0.37759	N	0.745	0.83066	0.340	0.88181	D	0.936	0.97900	D	10	0.7661046	0.76716	D	0.056817	0.66741	D	0.503	0.78538	0.201	0.11522	0.878068277675	0.87688	0.4734164363851332	0.47260	1.87575306562	0.92559	0.690069437027	0.65717	T	0.022564	0.20855	T	0.393962	0.89562	D	0.328122	0.89431	D	0.695243775844574	0.40493	D	.	.	.	.	.	.	.	.	.	.	.	-7.36	0.57137	T	.	.	0.264	0.67433	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.292159	0.65461	24.8	0.99917275070510481	0.98518	0.99204	0.92767	D	AEFDBI	0.950875	0.96492	D	0.58913954493757	0.72497	5.814952	0.606985941294099	0.75446	6.311966	0.999999999997102	0.74766	0.615465	0.37627	0	0.563428	0.19063	0	0.658983	0.55881	0	0.530356	0.10902	0	.	.	5.99	5.99	0.97299	7.561000	0.81256	5.892000	0.50774	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.274000	0.23868	0.0:1.0:0.0:0.0	20.478	0.99191	951	0.11083	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	0.001010	0.000000	0.000000	0.000000	0.000000	0.000000	0.003086	0.000000	0.02632	1551.33	33	chr12	2585465	.	C	T	1551.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.17;DP=751;ExcessHet=0;FS=0.657;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.03;ReadPosRankSum=1.91;SOR=0.808	GT:AD:DP:GQ:PL	0/1:68,61:129:99:1565,0,1582	18	0	1	0
chr12	4591261	4591261	G	C	exonic	DYRK4	.	nonsynonymous SNV	DYRK4:NM_003845:exon3:c.G81C:p.K27N,DYRK4:NM_001371301:exon5:c.G426C:p.K142N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.0114393036777	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.479e-06	0.0002	5.452e-06	5.506e-06	1.16e-05	2.36e-06	1.7e-06	2.62e-06	1.69e-06	0	0	0	0	0	0	6.303e-06	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.314	0.13834	T	0.401	0.14961	T	0.346	0.33564	B	0.084	0.29270	B	0.121393	0.18998	N	0.456574	1	0.08975	N	1.725	0.44537	L	-0.08	0.63911	T	0.73	0.02068	N	0.144	0.14480	-0.9982	0.30423	T	0.134	0.44720	T	10	0.07988778	0.12903	T	0.011439	0.29067	T	0.029	0.06676	0.269	0.21735	0.558735321446	0.55534	0.18653166389102285	0.18571	0.09495456672	0.10722	0.417934507132	0.27553	T	9.22E-4	0.00478	T	-0.259265	0.12987	T	-0.610193	0.11969	T	0.123014807701111	0.14722	T	0.59544	0.22079	T	0.04078166	0.05886	0.040100157	0.04256	0.04078166	0.05886	0.040100157	0.04256	-4.202	0.26780	T	.	.	0.104	0.18869	B	.;.;.	.;.;.	0.165782	0.05554	2.014	0.79475724993608643	0.12759	0.01358	0.04650	N	AEFDBI	0.066344	0.12987	N	-1.06848562840135	0.07230	0.3352268	-1.19599880480459	0.05976	0.2863112	2.00585938924982E-4	0.05898	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	4.34	-2.7	0.05651	-0.445000	0.06918	0.067000	0.14209	-0.678000	0.04252	0.001000	0.13787	0.000000	0.08366	0.446000	0.27806	0.499:0.1481:0.3529:0.0	5.450	0.15851	834	0.38640	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3684	3193.35	94	chr12	4591261	.	G	C	3193.35	.	AC=14;AF=0.368;AN=38;BaseQRankSum=-1.805;DP=1547;ExcessHet=17.0548;FS=274.024;InbreedingCoeff=-0.5842;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=2.94;ReadPosRankSum=1.24;SOR=12.301	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:50,20:81:99:.:.:158,0,828:.	5	0	14	0
chr12	6388415	6388415	G	T	exonic	LTBR	.	nonsynonymous SNV	LTBR:NM_001270987:exon7:c.G628T:p.A210S,LTBR:NM_002342:exon7:c.G685T:p.A229S	.	383	1106	32	1	0	34	0.015138	.	.	.	725226	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.298	.	0.0044	0.00419329	0.0052	0.0012	0.0048	0.0001	0.0006	0.0055	0.0122	0.0107	0.0049999	773	154602	rs41332645	0.0059	0.0060	0.0058	0.0061	0.0105	0.0058	0.0058	0.0100	0.0097	0.0008	0.0036	0.0057	2.519e-05	0.0004	0.0087	0.0063	0.0060	0.0105	0.0040	0.0040	0.0041	0.0039	0.0083	0.0038	0.0037	0.0063	0.0055	0.0009	0.0044	0.0046	0.0046	0.0002	0.0002	0.0170	0.0062	0.0057	0.0083	0.14	0.25664	T	0.156	0.32040	T	0.447	0.36006	B	0.063	0.27082	B	0.053605	0.02051	N	2.323050	1	0.81001	D	2.31	0.66127	M	-2.2	0.86888	D	-0.45	0.14782	N	0.351	0.39254	-0.5753	0.65804	T	0.406	0.75600	T	10	0.01009208	0.00226	T	.	.	.	0.298	0.61843	.	.	0.788720867514	0.78676	0.700720663021327	0.70013	0.186489258796	0.20959	0.357159256935	0.18971	T	0.135537	0.46740	T	-0.351091	0.04659	T	-0.269133	0.47908	T	0.0104986879931563	0.00145	T	0.682032	0.29067	T	0.032337707	0.03241	0.041256744	0.04647	0.032337707	0.03241	0.041256744	0.04647	-3.886	0.22813	T	.	.	0.121	0.25000	B	.;.	.;.	2.344849	0.30055	18.32	0.96384255400607333	0.29630	0.63326	0.32055	D	AEFGBHCI	0.485854	0.52527	N	-0.571582043788752	0.19811	1.039836	-0.531999366364972	0.21286	1.150795	0.999998040825816	0.74766	0.706298	0.61202	0	0.563428	0.19063	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.03	0.667	0.17076	1.393000	0.34106	3.628000	0.39306	-0.148000	0.12190	1.000000	0.71638	1.000000	0.68203	0.109000	0.18697	0.0938:0.3095:0.4171:0.1796	3.119	0.06002	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	1	0	0.007553	0.000000	0.008152	0.008772	0.050000	0.000000	0.009146	0.007576	0.07895	4601.77	111	chr12	6388415	.	G	T	4601.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.341;DP=862;ExcessHet=0;FS=2.892;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=21.81;ReadPosRankSum=-0.069;SOR=0.95	GT:AD:DP:GQ:PL	0/1:50,50:100:99:1203,0,1214	17	1	1	0
chr12	11353413	11353413	G	0	exonic	PRB1	.	.	.	.	776	281	207	230	28	695	0.542718	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	28882.6	63	chr12	11353413	.	G	*	28882.6	.	AC=4;AF=0.143;AN=28;BaseQRankSum=1.73;DP=5063;ExcessHet=0.0911;FS=8.727;InbreedingCoeff=0.2733;MLEAC=5;MLEAF=0.179;MQ=50.96;MQRankSum=0.41;QD=14.59;ReadPosRankSum=0.493;SOR=1.338	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,268:269:99:.:.:5686,663,0:.	11	1	2	5
chr12	11353469	11353469	A	0	exonic	PRB1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1923	14621.9	35	chr12	11353469	.	A	*	14621.9	.	AC=5;AF=0.192;AN=26;BaseQRankSum=1.62;DP=4329;ExcessHet=0.3267;FS=13.408;InbreedingCoeff=0.1767;MLEAC=7;MLEAF=0.269;MQ=52.52;MQRankSum=-1.782;QD=11.97;ReadPosRankSum=-0.315;SOR=1.577	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,268:269:99:.:.:5686,663,0:.	10	2	1	6
chr12	11353474	11353474	C	0	exonic	PRB1	.	.	.	.	531	945	7	0	39	46	0.00369004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2083	15923.7	37	chr12	11353474	.	C	*	15923.7	.	AC=5;AF=0.208;AN=24;BaseQRankSum=1.66;DP=4060;ExcessHet=0;FS=2.46;InbreedingCoeff=0.6232;MLEAC=7;MLEAF=0.292;MQ=54.21;MQRankSum=-1.359;QD=17.21;ReadPosRankSum=0.621;SOR=0.641	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,268:269:99:.:.:5686,663,0:.	9	2	1	7
chr12	12330434	12330434	T	C	exonic	MANSC1	.	nonsynonymous SNV	MANSC1:NM_018050:exon4:c.A889G:p.M297V,MANSC1:NM_001363613:exon5:c.A787G:p.M263V	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.0015330400996	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1371246177	3.42e-06	3.42e-06	5.445e-06	1.375e-06	0.0002	1e-06	7.3e-07	9.89e-06	3.7e-06	5.974e-05	0	0	0	0	0.0002	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.769	0.03926	T	0.91	0.05767	T	0.001	0.07471	B	0.0	0.01387	B	0.010522	0.01278	N	3.036110	1	0.08975	N	1.155	0.29575	L	2.38	0.20387	T	-0.44	0.14588	N	0.015	0.00226	-1.0365	0.18388	T	0.025	0.10821	T	10	0.03923297	0.02398	T	0.001533	0.02394	T	0.001	0.00016	0.221	0.14371	0.0138822411134	0.00435	0.1476285053032116	0.14684	0.0906167406109	0.10225	0.201298713684	0.00495	T	0.001773	0.02708	T	-0.524867	0.00412	T	-0.810183	0.01661	T	0.0237871090456307	0.01118	T	.	.	.	0.020065919	0.00553	0.031011634	0.01631	0.020065919	0.00553	0.031011634	0.01631	-2.331	0.04728	T	.	.	0.062	0.02370	B	.;.;.	.;.;.	-1.874761	0.00134	0.002	0.46040259199386191	0.03658	0.02664	0.07282	N	AEFBI	0.077077	0.15521	N	-1.29746587640715	0.03706	0.1660392	-1.29898059859757	0.04445	0.2096717	0.887787933168935	0.25773	0.706548	0.73137	0	0.624146	0.53433	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.63	-2.53	0.05959	-2.326000	0.01195	-5.974000	0.01535	0.595000	0.32841	0.000000	0.06391	0.000000	0.08366	0.061000	0.16044	0.0:0.2813:0.3212:0.3975	4.482	0.11184	616	0.66398	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2189.33	98	chr12	12330434	.	T	C	2189.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.805;DP=1627;ExcessHet=0;FS=5.111;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.75;ReadPosRankSum=0.635;SOR=0.798	GT:AD:DP:GQ:PL	0/1:61,78:139:99:2203,0,1717	18	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	.	.	.	.	.	.	.	.	0.4444	3192.41	61	chr12	39764776	.	G	C	3192.41	.	AC=16;AF=0.444;AN=36;BaseQRankSum=-0.323;DP=1223;ExcessHet=28.6262;FS=348.508;InbreedingCoeff=-0.7653;MLEAC=16;MLEAF=0.444;MQ=60;MQRankSum=0;QD=3.27;ReadPosRankSum=0.863;SOR=12.249	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:29,32:61:99:.:.:236,0,411:.	2	0	16	1
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	9441.75	1246	chr12	40486404	.	T	TATCA	9441.75	.	AC=3;AF=0.079;AN=38;BaseQRankSum=7.82;DP=18290;ExcessHet=0.3672;FS=54.284;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=57.38;MQRankSum=-29.47;QD=3.04;ReadPosRankSum=-9.184;SOR=5.944	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1000,145:1145:99:0|1:40486404_T_TATCA:3064,0,41270:40486404	16	0	3	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	10221.9	1299	chr12	40486405	.	G	GCTAGGGTGACAGAGAGTACTGGACTA	10221.9	.	AC=3;AF=0.25;AN=12;BaseQRankSum=6.72;DP=19206;ExcessHet=0.3672;FS=49.592;InbreedingCoeff=-0.3333;MLEAC=6;MLEAF=0.5;MQ=57.31;MQRankSum=-29.22;QD=3.29;ReadPosRankSum=-14.88;SOR=4.609	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:998,151:1205:99:.:.:3490,0,41208:.	3	0	3	13
chr12	40487424	40487424	-	CAGGTGTAGTGACAGGGACAACTGGCCC	exonic	MUC19	.	unknown	UNKNOWN	.	531	647	136	0	208	344	0.0951049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.211e-06	9.603e-06	2.25e-06	0	0.0010	0	0	.	.	0	0.0010	0	0	0	0	0	0	0	0.0003	0.0073	0.0003	0.0004	0.0005	0.0003	0.0002	0.0003	0.0002	0.0002	0	0.0005	0	0.0003	0.0005	0	0.0004	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2895	55498.9	1319	chr12	40487424	.	T	TCAGGTGTAGTGACAGGGACAACTGGCCC	55498.9	.	AC=11;AF=0.289;AN=38;BaseQRankSum=1.81;DP=21295;ExcessHet=25.4433;FS=1.658;InbreedingCoeff=-0.7273;MLEAC=11;MLEAF=0.289;MQ=56.74;MQRankSum=-28.9;QD=5.62;ReadPosRankSum=-0.745;SOR=1.877	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:999,1:1000:99:.:.:3948,0,41399:.	8	0	11	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	299.79	631	chr12	40488211	.	TGGGGTG	T	299.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-3.777;DP=13465;ExcessHet=0.119;FS=9.525;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=58.81;MQRankSum=-20.17;QD=0.17;ReadPosRankSum=-4.478;SOR=1.856	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:1072,95:1167:99:.:.:124,0,43217:.	17	0	2	0
chr12	40488214	40488214	G	0	exonic	MUC19	.	.	.	.	648	669	143	9	53	214	0.107405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	8703.6	631	chr12	40488214	.	G	*	8703.6	.	AC=2;AF=0.071;AN=28;BaseQRankSum=6.55;DP=13462;ExcessHet=1.3;FS=8.732;InbreedingCoeff=-0.2459;MLEAC=2;MLEAF=0.071;MQ=58.21;MQRankSum=-16.67;QD=2.4;ReadPosRankSum=-8.188;SOR=1.626	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:1072,95:1167:99:.:.:124,0,43217:.	12	0	2	5
chr12	40488518	40488518	A	C	exonic	MUC19	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	10594.3	549	chr12	40488518	.	A	C	10594.3	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.07;DP=9492;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.8;MQRankSum=1.49;QD=13.51;ReadPosRankSum=0.725;SOR=0.666	GT:AD:DP:GQ:PL	0/1:417,367:784:99:10608,0,12180	18	0	1	0
chr12	40489477	40489477	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs962250305	1.204e-06	6.843e-07	0	2.606e-06	1.316e-06	0	0	.	.	0	0	0	0	0	0	1.316e-06	0	0	2.011e-05	2.629e-05	2.61e-05	1.378e-05	4.485e-05	5.35e-06	2.48e-06	1.191e-05	6.3e-06	0	0	0	0	0	0	0	4.485e-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	.	.	.	.	.	.	.	.	0.02632	11552.3	582	chr12	40489477	.	G	A	11552.3	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.37;DP=13663;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.47;MQRankSum=5.15;QD=12.15;ReadPosRankSum=0.892;SOR=0.643	GT:AD:DP:GQ:PL	0/1:519,432:951:99:11566,0,14017	18	0	1	0
chr12	48776246	48776246	A	G	exonic	ADCY6	.	nonsynonymous SNV	ADCY6:NM_015270:exon8:c.T1640C:p.I547T	.	63	1441	18	0	0	18	0.0062069	.	.	.	725113	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.911	.	0.0022	0.00359425	0.0035	0.0006	0.0011	0	0.0005	0.0028	0.0033	0.0130	0.0033247	514	154602	rs143114060	0.0033	0.0033	0.0030	0.0037	0.0131	0.0033	0.0032	0.0125	0.0123	0.0006	0.0011	0.0006	0	0.0006	0.0062	0.0031	0.0030	0.0131	0.0024	0.0024	0.0023	0.0026	0.0122	0.0022	0.0022	0.0097	0.0088	0.0008	0.0164	0.0018	0.0009	0	0.0008	0	0.0033	0.0014	0.0122	0.001	0.78490	D	0.001	0.83351	D	0.999	0.77913	D	0.978	0.79672	D	0.000470	0.44119	D	0.141057	1	0.81001	D	2.625	0.76847	M	-1.93	0.84842	D	-4.25	0.76414	D	0.976	0.98840	0.528	0.90932	D	0.708	0.89951	D	10	0.022234172	0.00550	T	.	.	.	0.911	0.97624	.	.	0.970207164534	0.96988	0.8767929921298814	0.87646	1.08563880484	0.77273	0.711991071701	0.68882	T	0.841054	0.96293	D	0.115786	0.65946	D	0.404573	0.92261	D	0.0417149374962842	0.04002	T	0.989001	0.96320	D	0.44159785	0.63505	0.48273897	0.70051	0.441327	0.63488	0.49944356	0.71060	-11.022	0.79779	D	0.8774340125879654	0.93625	0.700	0.72971	P	.;.;.	.;.;.	4.906929	0.80697	27.4	0.99835523555506422	0.91628	0.98756	0.86450	D	AEFDGBI	0.943737	0.94995	D	0.676368237402782	0.78085	6.800873	0.612517382517976	0.75850	6.383716	0.999999995425091	0.74766	0.732398	0.92422	0	0.588066	0.40923	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.0	4.0	0.45673	9.252000	0.94679	9.313000	0.79976	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	12.319	0.54298	506	0.75555	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006546	0.000000	0.002717	0.014620	0.050000	0.000000	0.006098	0.007576	0.05263	3440.83	41	chr12	48776246	.	A	G	3440.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.18;DP=913;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.24;ReadPosRankSum=0.717;SOR=0.668	GT:AD:DP:GQ:PL	0/1:85,73:158:99:1904,0,2334	17	0	2	0
chr12	49973423	49973423	G	A	exonic	AQP6	.	nonsynonymous SNV	AQP6:NM_001652:exon1:c.G250A:p.A84T	.	422	1098	2	0	0	2	0.000909918	.	.	.	2431839	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.901	0.247684740924	7.7e-05	0.000199681	0.0002	0	0.0003	0	0	0.0002	0.0011	0.0001	0.0001423	22	154602	rs144408327	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0003	0.0003	0.0003	2.987e-05	0.0002	0.0007	2.519e-05	1.91e-05	0	0.0004	8.28e-05	0.0001	0.0002	0.0002	0.0003	0.0002	0.0008	0.0002	0.0002	0.0005	0.0004	4.808e-05	0	0.0008	0.0012	0	0	0	0.0003	0.0009	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000064	0.52346	D	0.000000	1	0.81001	D	3.87	0.95912	H	-2.74	0.90735	D	-3.96	0.73579	D	0.939	0.94550	1.099	0.99599	D	0.924	0.97483	D	10	0.90110576	0.89472	D	0.247685	0.88979	D	0.901	0.97248	.	.	0.982830986308	0.98263	0.7727530470961391	0.77225	0.821152499585	0.67183	0.547822117805	0.45550	T	0.869028	0.97155	D	0.265872	0.80070	D	0.450107	0.93579	D	0.962903678417206	0.66503	D	0.990763	0.97171	D	0.87976575	0.89647	0.87176394	0.92988	0.87976575	0.89648	0.87176394	0.92988	-7.324	0.56366	T	.	.	0.316	0.61572	B	.;.;.	.;.;.	4.408828	0.68188	25.2	0.99919683473698051	0.98654	0.99335	0.94660	D	AEFGBI	0.843338	0.76037	D	0.920854612201974	0.92744	11.60236	0.732650143526171	0.84857	8.410507	0.999999999998798	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.93	4.93	0.64394	9.602000	0.97623	11.861000	0.98322	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.206000	0.22070	0.0:0.0:1.0:0.0	17.287	0.87031	261	0.89765	Major intrinsic protein, conserved site;Major intrinsic protein, conserved site;Major intrinsic protein, 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	.	.	.	.	.	.	.	.	0.02632	1781.33	33	chr12	49973423	.	G	A	1781.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.866;DP=762;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.84;ReadPosRankSum=1.25;SOR=0.656	GT:AD:DP:GQ:PL	0/1:54,66:120:99:1795,0,1263	18	0	1	0
chr12	51822091	51822091	A	G	exonic	FIGNL2	.	nonsynonymous SNV	FIGNL2:NM_001013690:exon2:c.T323C:p.L108S,FIGNL2:NM_001384995:exon2:c.T323C:p.L108S,FIGNL2:NM_001384996:exon3:c.T323C:p.L108S	.	420	1096	6	0	0	6	0.00272975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0014	.	0.0013	0	0.0028	0	0.0012	0.0014	0	0.0011	0.0008991	139	154602	rs201565575	0.0016	0.0016	0.0016	0.0016	0.0019	0.0016	0.0016	0.0018	0.0018	0.0001	0.0013	0.0012	0	0.0006	0	0.0019	0.0020	0.0006	0.0009	0.0009	0.0011	0.0007	0.0015	0.0008	0.0007	0.0013	0.0012	0.0002	0	0.0008	0.0012	0	0.0010	0	0.0015	0.0009	0.0004	.	.	.	.	.	.	0.952	0.54136	P	0.521	0.48239	P	.	.	.	.	.	.	.	2.16	0.60381	M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05311221	0.05452	T	.	.	.	.	.	.	.	.	.	0.71098782301786	0.71040	.	.	0.755849599838	0.75312	T	0.05373	0.29523	T	.	.	.	.	.	.	.	.	.	0.392661	0.09777	T	0.17028193	0.37594	0.4424081	0.67492	0.17028193	0.37593	0.4424081	0.67493	-3.33	0.14126	T	.	.	0.369	0.57769	A	.;.	.;.	3.176148	0.43089	21.7	0.90357450210733703	0.19622	0.94128	0.60197	D	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999999999653716	0.74766	0.162408	0.03677	1	0.085267	0.02369	0	0.132232	0.03703	1	0.062806	0.01542	0	0.950262	0.61920	4.75	4.75	0.59954	5.118000	0.64511	10.888000	0.84081	0.733000	0.85838	1.000000	0.71638	1.000000	0.68203	0.889000	0.42754	1.0:0.0:0.0:0.0	14.424	0.66775	477	0.77662	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002024	0.000000	0.001366	0.000000	0.000000	0.000000	0.009146	0.000000	0.02632	1322.33	33	chr12	51822091	.	A	G	1322.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.446;DP=742;ExcessHet=0;FS=3.401;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.93;ReadPosRankSum=-0.259;SOR=1.051	GT:AD:DP:GQ:PL	0/1:61,60:121:99:1336,0,1538	18	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	0.02632	6578.33	35	chr12	52448859	.	C	T	6578.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.79;DP=1180;ExcessHet=0;FS=1.103;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.36;MQRankSum=2.12;QD=12.44;ReadPosRankSum=-0.77;SOR=0.802	GT:AD:DP:GQ:PL	0/1:271,258:529:99:6592,0,6435	18	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	.	.	.	.	.	.	.	.	0.1562	209.59	144	chr12	54363394	.	G	A	209.59	.	AC=5;AF=0.156;AN=32;BaseQRankSum=-4.23;DP=1750;ExcessHet=1.3;FS=194.631;InbreedingCoeff=-0.21;MLEAC=6;MLEAF=0.188;MQ=60;MQRankSum=0;QD=0.43;ReadPosRankSum=0.681;SOR=9.84	GT:AD:DP:GQ:PL	0/1:60,24:86:23:23,0,1470	11	0	5	3
chr12	57718278	57718278	G	A	exonic	OS9	.	nonsynonymous SNV	OS9:NM_001261421:exon10:c.G1171A:p.E391K,OS9:NM_001261422:exon10:c.G1111A:p.E371K,OS9:NM_001261423:exon10:c.G1090A:p.E364K,OS9:NM_001017956:exon11:c.G1267A:p.E423K,OS9:NM_001017957:exon11:c.G1267A:p.E423K,OS9:NM_001017958:exon11:c.G1267A:p.E423K,OS9:NM_001261420:exon11:c.G1270A:p.E424K,OS9:NM_006812:exon11:c.G1267A:p.E423K	.	411	1108	3	0	0	3	0.00135196	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.00646200128183	.	0.000399361	3.299e-05	0	0.0003	0	0	1.5e-05	0	0	3.88e-05	6	154602	rs201247279	1.232e-05	1.232e-05	1.363e-05	1.101e-05	0.0002	7.7e-06	6.36e-06	5.804e-05	3.952e-05	0	0.0001	0	0	0	0.0002	5.402e-06	8.284e-05	0	3.284e-05	3.282e-05	2.571e-05	4.029e-05	0.0003	1.26e-05	7.98e-06	8.87e-05	5.281e-05	0	0	0.0003	0	0	0	0	1.471e-05	0	0	0.017	0.61437	D	0.19	0.58613	T	0.856	0.70673	P	0.242	0.61580	B	0.002055	0.37364	N	0.263520	0.961084	0.41067	D	1.905	0.50856	L	1.92	0.32722	T	-0.91	0.26843	N	0.376	0.52918	-1.0975	0.04407	T	0.082	0.32266	T	10	0.04137501	0.02788	T	0.006462	0.17014	T	0.085	0.24743	.	.	0.744428227519	0.74213	0.18659231152679928	0.18577	0.405105065229	0.41401	0.462513446808	0.33656	T	0.236626	0.63671	T	-0.2609	0.12795	T	-0.343242	0.39978	T	0.169248209615462	0.18529	T	0.963304	0.86607	D	0.08077918	0.18528	0.09477678	0.22447	0.08077918	0.18528	0.09477678	0.22447	-8.662	0.66329	D	.	.	0.102	0.25850	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.140170	0.62018	24.4	0.99914337139150422	0.98309	0.90707	0.52109	D	AEFBCI	0.738896	0.68362	D	0.225727899435	0.52447	3.418948	0.301833066642365	0.55647	3.727603	0.892058194450824	0.25874	0.706548	0.73137	0	0.702456	0.74545	0	0.693117	0.63056	0	0.714379	0.83352	0	.	.	5.32	5.32	0.75377	3.710000	0.54589	9.114000	0.78816	0.676000	0.76740	0.984000	0.35821	1.000000	0.68203	0.593000	0.31214	0.0831:0.0:0.9169:0.0	11.354	0.48846	132	0.94697	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000518	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1831.33	35	chr12	57718278	.	G	A	1831.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.244;DP=770;ExcessHet=0;FS=0.621;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.99;ReadPosRankSum=0.367;SOR=0.615	GT:AD:DP:GQ:PL	0/1:71,70:141:99:1845,0,1854	18	0	1	0
chr12	57780585	57780585	G	A	exonic	EEF1AKMT3	.	nonsynonymous SNV	EEF1AKMT3:NM_015433:exon3:c.G620A:p.R207Q	.	431	1082	9	0	0	9	0.00414174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.0267885680577	0.0022	0.000798722	0.0019	0.0003	0.0006	0	0.0003	0.0029	0.0033	0.0013	0.0020763	321	154602	rs141172155	0.0028	0.0028	0.0029	0.0027	0.0034	0.0028	0.0027	0.0033	0.0033	0.0005	0.0014	0	0	0.0006	0.0019	0.0034	0.0020	0.0014	0.0019	0.0019	0.0019	0.0019	0.0031	0.0017	0.0016	0.0028	0.0026	0.0006	0.0011	0.0020	0.0003	0	0.0008	0	0.0031	0.0024	0.0012	0.019	0.50132	D	0.0	0.92824	D	0.996	0.68779	D	0.616	0.51268	P	0.000659	0.42656	D	0.141878	0.787546	0.81001	D	.	.	.	0.93	0.44065	T	-3.16	0.64246	D	0.477	0.51226	-1.0562	0.12724	T	0.104	0.38094	T	9	0.008936435	0.00202	T	0.026789	0.49666	D	0.075	0.21907	.	.	0.507510703362	0.50389	0.613346919652321	0.61266	1.6492091948	0.89517	0.357963263988	0.19089	T	0.002344	0.01739	T	-0.471885	0.00827	T	-0.452712	0.27398	T	0.019722140363936	0.00674	T	0.850115	0.53348	D	0.22724581	0.45421	0.11678828	0.28192	0.22724581	0.45421	0.11678828	0.28191	-6.336	0.49007	T	.	.	0.141	0.30894	B	.;.	.;.	4.935152	0.81403	27.5	0.98325429124007158	0.40280	0.85069	0.44172	D	AEFBI	0.260657	0.37876	N	0.275913396502426	0.54931	3.657642	0.326876316975909	0.57124	3.877185	0.999999135195521	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.2	5.2	0.71720	3.100000	0.49966	9.938000	0.82634	0.676000	0.76740	0.996000	0.39380	1.000000	0.68203	0.613000	0.31716	0.0:0.0:1.0:0.0	17.497	0.87614	189	0.92630	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.004076	0.002924	0.000000	0.000000	0.003049	0.000000	0.02632	1265.33	34	chr12	57780585	.	G	A	1265.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.75;DP=779;ExcessHet=0;FS=0.752;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.61;ReadPosRankSum=-0.037;SOR=0.832	GT:AD:DP:GQ:PL	0/1:63,46:109:99:1279,0,1691	18	0	1	0
chr12	57956835	57956835	C	T	exonic	ATP23	.	nonsynonymous SNV	ATP23:NM_001320409:exon5:c.C332T:p.A111V,ATP23:NM_001320408:exon6:c.C530T:p.A177V,ATP23:NM_033276:exon6:c.C686T:p.A229V,ATP23:NM_001320410:exon7:c.C332T:p.A111V	.	440	1069	13	0	0	13	0.0060437	.	.	.	2807160	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.121	0.0237817948028	0.0053	0.00239617	0.0053	0.0011	0.0062	0	0.0008	0.0078	0.0089	0.0014	0.0052781	816	154602	rs117230607	0.0063	0.0063	0.0063	0.0064	0.0109	0.0062	0.0062	0.0088	0.0080	0.0009	0.0071	0.0124	2.523e-05	0.0016	0.0109	0.0071	0.0070	0.0018	0.0051	0.0051	0.0055	0.0047	0.0078	0.0048	0.0047	0.0072	0.0070	0.0012	0	0.0077	0.0124	0	0.0009	0.0136	0.0078	0.0114	0.0006	0.011	0.55530	D	0.046	0.49120	D	0.125	0.26866	B	0.039	0.23607	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.675	0.78361	M	0.82	0.48142	T	-0.84	0.22944	N	0.404	0.44474	-1.0117	0.26385	T	0.092	0.35119	T	10	0.0061927736	0.00139	T	0.023782	0.46754	T	0.121	0.33580	.	.	0.613939331864	0.61082	0.759185589835302	0.75866	0.870863411609	0.69393	0.524891376495	0.42314	T	0.014812	0.12542	T	-0.346926	0.04923	T	-0.263862	0.48439	T	0.0486253854676455	0.05255	T	.	.	.	0.21897168	0.44417	0.19760513	0.43551	0.21897168	0.44417	0.19760513	0.43550	-4.102	0.25320	T	.	.	0.363	0.57386	A	.	.	4.391800	0.67780	25.1	0.99889966653336681	0.96436	0.98003	0.78791	D	AEFBI	0.612046	0.60027	D	-0.0499452342530211	0.39605	2.338248	0.0894204426622313	0.44013	2.691503	0.995798016004115	0.34330	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.62	4.73	0.59485	5.599000	0.67280	7.441000	0.58873	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.848000	0.40082	0.0:0.9311:0.0:0.0688	14.972	0.70890	273	0.89298	.	.	.	.	.	.	Likely benign	0	0	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	0.015152	0.009511	0.002924	0.050000	0.008621	0.006098	0.007576	0.02632	721.33	33	chr12	57956835	.	C	T	721.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.16;DP=711;ExcessHet=0;FS=0.859;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.1;ReadPosRankSum=-0.06;SOR=0.537	GT:AD:DP:GQ:PL	0/1:58,31:89:99:735,0,1445	18	0	1	0
chr12	76346354	76346354	T	C	exonic	BBS10	.	nonsynonymous SNV	BBS10:NM_024685:exon2:c.A1631G:p.N544S	Bardet-Biedl syndrome 10, Autosomal recessive	2	1469	47	4	0	55	0.0183762	.	.	.	177273	not_provided|not_specified|Bardet-Biedl_syndrome_10|Bardet-Biedl_syndrome	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0014438,MedGen:C1859568,OMIM:615987,Orphanet:110|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.075	.	0.0067	0.00658946	0.0074	0.0027	0.0046	0	0.0044	0.0077	0.0110	0.0161	0.0073479	1136	154602	rs34737974	0.0081	0.0081	0.0078	0.0083	0.0227	0.0079	0.0079	0.0195	0.0184	0.0023	0.0057	0.0154	5.04e-05	0.0030	0.0227	0.0080	0.0095	0.0151	0.0066	0.0066	0.0067	0.0064	0.0155	0.0062	0.0061	0.0127	0.0117	0.0029	0.0548	0.0077	0.0170	0.0002	0.0037	0.0374	0.0075	0.0080	0.0155	0.129	0.26852	T	0.235	0.24767	T	0.0	0.02946	B	0.001	0.04355	B	0.793385	0.09379	N	0.898598	1	0.08975	N	1.195	0.30194	L	-1.99	0.85320	D	-0.34	0.12661	N	0.055	0.02658	-0.8580	0.51406	T	0.270	0.64141	T	10	0.002981037	0.00048	T	.	.	.	0.075	0.21907	.	.	0.462809833587	0.45907	0.18467108696675422	0.18385	0.0498074525689	0.05466	0.230875551701	0.02033	T	0.120035	0.44199	T	-0.478959	0.00750	T	-0.447794	0.27940	T	0.00381031826751562	0.00040	T	0.40486	0.10377	T	0.038737368	0.05218	0.031991135	0.01867	0.036839508	0.04609	0.03304684	0.02135	-2.628	0.06719	T	0.2661999080791981	0.35880	0.071	0.03964	B	.;.	.;.	0.439928	0.08101	4.829	0.46311100480955264	0.03700	0.10532	0.16013	N	AEFDBCIJ	0.058956	0.11099	N	-1.1809744289882	0.05288	0.2407013	-1.19808015730085	0.05943	0.2845768	0.999911099153308	0.45857	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.95	0.016	0.13429	0.279000	0.18532	1.003000	0.23275	-0.137000	0.12594	0.000000	0.06391	0.822000	0.27135	0.010000	0.09038	0.0:0.2316:0.1416:0.6268	5.305	0.15108	953	0.10115	.;.	.	.	.	.	rs34737974	Likely benign	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	0.025680	0.015152	0.035326	0.035088	0.000000	0.017241	0.024390	0.015152	0.05263	3871.83	34	chr12	76346354	.	T	C	3871.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.373;DP=888;ExcessHet=0.119;FS=1.94;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.31;ReadPosRankSum=1.27;SOR=0.769	GT:AD:DP:GQ:PL	0/1:76,66:142:99:1725,0,2122	17	0	2	0
chr12	99244366	99244366	T	C	exonic	ANKS1B	.	nonsynonymous SNV	ANKS1B:NM_001352185:exon14:c.A2395G:p.K799E,ANKS1B:NM_001352186:exon14:c.A2395G:p.K799E,ANKS1B:NM_001352187:exon14:c.A2395G:p.K799E,ANKS1B:NM_001352188:exon14:c.A2395G:p.K799E,ANKS1B:NM_152788:exon14:c.A2395G:p.K799E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.0131949830786	.	.	1.769e-05	0	0	0	0	0	0.0012	6.557e-05	1.29e-05	2	154602	rs754215967	3.435e-06	4.104e-06	0	6.904e-06	3.523e-05	1.01e-06	7.3e-07	9.36e-06	4.59e-06	0	0	0	0	0	0	9.01e-07	1.663e-05	3.523e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.04213	T	0.896	0.03706	T	0.0	0.02946	B	0.0	0.01387	B	0.327744	0.14166	N	0.662303	0.999469	0.26017	N	-1.04	0.01097	N	1.19	0.59037	T	0.08	0.06026	N	0.13	0.12484	-1.0829	0.06795	T	0.058	0.24279	T	9	0.036960274	0.02022	T	0.013195	0.32398	T	0.084	0.24469	0.355	0.35571	0.223474106383	0.21959	0.22465220081924986	0.22380	0.0673231261351	0.07525	0.250467061996	0.03818	T	0.089726	0.38434	T	-0.295142	0.09126	T	-0.47896	0.24556	T	0.0181475169914623	0.00536	T	0.680832	0.32403	T	0.051748835	0.09549	0.050354276	0.07886	0.051748835	0.09549	0.050354276	0.07885	-3.182	0.26954	T	.	.	0.053	0.00563	B	.;.	.;.	1.042563	0.14231	10.81	0.53960722043349663	0.05042	0.15166	0.18777	N	AEFI	0.110305	0.21878	N	-0.767882333237026	0.14152	0.7026824	-0.623543011838776	0.18888	1.011067	2.44043330182981E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.3	-0.246	0.12380	0.883000	0.27838	-0.149000	0.11438	0.665000	0.62972	1.000000	0.71638	0.392000	0.24668	0.989000	0.64315	0.0:0.4849:0.2718:0.2433	5.254	0.14853	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	.	.	.	.	.	.	.	.	0.02632	1447.33	33	chr12	99244366	.	T	C	1447.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.813;DP=772;ExcessHet=0;FS=0.665;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.49;ReadPosRankSum=-0.539;SOR=0.77	GT:AD:DP:GQ:PL	0/1:64,62:126:99:1461,0,1576	18	0	1	0
chr12	100037647	100037647	T	C	exonic	UHRF1BP1L	.	nonsynonymous SNV	UHRF1BP1L:NM_015054:exon21:c.A4384G:p.T1462A	.	.	.	.	.	.	.	.	.	.	.	3291112	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.056	0.00435868917151	0.0002	.	0.0003	9.647e-05	0	0	0	0.0004	0.0011	0.0005	0.0002781	43	154602	rs144439125	0.0002	0.0002	0.0002	0.0002	0.0030	0.0002	0.0002	0.0019	0.0015	0	0.0002	0.0008	0	0	0.0030	0.0002	0.0004	0.0005	0.0002	0.0002	0.0001	0.0002	0.0002	0.0001	0.0001	0.0001	0.0001	4.824e-05	0	0.0001	0.0020	0	0	0	0.0002	0.0005	0.0002	0.365	0.14743	T	0.328	0.19073	T	0.0	0.02946	B	0.0	0.01387	B	0.243968	0.15651	N	0.644376	0.999993	0.08975	N	1.355	0.33814	L	2.99	0.09262	T	-0.97	0.28906	N	0.041	0.03956	-0.9938	0.31617	T	0.014	0.05753	T	10	0.015911102	0.00334	T	0.004359	0.10624	T	0.056	0.15993	.	.	0.043077524339	0.03247	0.11958438577316632	0.11885	0.114344148871	0.12892	0.367884039879	0.20527	T	0.001663	0.15779	T	-0.56788	0.00228	T	-0.699463	0.05855	T	0.00941299675094403	0.00121	T	0.661834	0.27067	T	0.067395814	0.14591	0.043780204	0.05526	0.067395814	0.14591	0.043780204	0.05525	-4.128	0.25701	T	.	.	0.069	0.04806	B	.;.	.;.	1.353259	0.17613	13.27	0.74831218863303828	0.10843	0.39113	0.26140	N	AEFBI	0.084812	0.17191	N	-0.62329975053083	0.18246	0.9457326	-0.50879685959633	0.21913	1.187738	0.00291953011120681	0.09795	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.53	0.076	0.13714	0.671000	0.24853	-0.388000	0.09495	0.665000	0.62972	0.969000	0.34210	0.347000	0.24452	0.902000	0.43815	0.0:0.2394:0.2597:0.5009	5.889	0.18143	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	0.004032	0.000000	0.002717	0.011696	0.000000	0.000000	0.006098	0.000000	0.02632	1149.33	33	chr12	100037647	.	T	C	1149.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.99;DP=691;ExcessHet=0;FS=0.846;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.55;ReadPosRankSum=-1.149;SOR=0.65	GT:AD:DP:GQ:PL	0/1:38,41:79:99:1163,0,931	18	0	1	0
chr12	100624283	100624283	C	T	exonic	GAS2L3	.	nonsynonymous SNV	GAS2L3:NM_001303130:exon9:c.C1478T:p.S493L,GAS2L3:NM_001303131:exon10:c.C1166T:p.S389L,GAS2L3:NM_001363672:exon10:c.C1478T:p.S493L,GAS2L3:NM_174942:exon10:c.C1478T:p.S493L	.	426	1080	15	1	0	17	0.00780891	.	.	.	713272	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.018	0.00374783651964	0.0043	0.00339457	0.0039	0.0010	0.0040	0	0.0024	0.0057	0.0033	0.0010	0.0041591	643	154602	rs61748063	0.0059	0.0059	0.0060	0.0058	0.0075	0.0058	0.0057	0.0065	0.0065	0.0013	0.0046	0.0092	0	0.0027	0.0075	0.0067	0.0066	0.0013	0.0045	0.0045	0.0051	0.0039	0.0079	0.0042	0.0041	0.0067	0.0063	0.0013	0.0011	0.0079	0.0112	0	0.0019	0.0068	0.0064	0.0062	0.0012	0.541	0.15613	T	0.593	0.08134	T	0.0	0.02946	B	0.0	0.01387	B	0.843066	0.07011	N	1.089570	1	0.08975	N	-1.01	0.01154	N	1.96	0.22678	T	0.39	0.07155	N	0.06	0.12770	-0.9704	0.37115	T	0.016	0.06473	T	10	0.0038915277	0.00074	T	0.003748	0.08713	T	0.018	0.03083	.	.	0.219573609325	0.21563	0.08916671828509418	0.08849	0.0715815216032	0.08012	0.212297424674	0.00913	T	0.013642	0.11764	T	-0.69	0.00042	T	-0.760188	0.03106	T	0.00283003722439262	0.00030	T	0.717128	0.32987	T	0.014336241	0.00089	0.025066564	0.00539	0.014336241	0.00089	0.025066564	0.00539	-4.602	0.32197	T	.	.	0.061	0.03231	B	.;.;.;.	.;.;.;.	0.565284	0.09340	6.119	0.33252556876305561	0.01971	0.00548	0.02514	N	AEFBI	0.033401	0.03954	N	-1.4518663181374	0.02202	0.09697183	-1.4026674150666	0.03225	0.1500141	9.3170636418722E-5	0.04910	0.706548	0.73137	0	0.588066	0.40923	0	0.653264	0.51672	0	0.714379	0.83352	0	.	.	4.93	-0.166	0.12697	-0.613000	0.05705	-0.506000	0.08774	-0.780000	0.03343	0.000000	0.06391	0.000000	0.08366	0.358000	0.25841	0.0:0.4908:0.0:0.5092	10.899	0.46252	594	0.68584	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.012228	0.000000	0.000000	0.008621	0.006098	0.000000	0.02632	2219.33	130	chr12	100624283	.	C	T	2219.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.66;DP=1263;ExcessHet=0;FS=4.438;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=0.107;SOR=0.62	GT:AD:DP:GQ:PL	0/1:85,86:171:99:2233,0,2237	18	0	1	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	2004.32	46	chr12	103984920	.	G	GAGGATGCAAAGAAGATGGCT	2004.32	.	AC=4;AF=0.105;AN=38;BaseQRankSum=2.31;DP=2233;ExcessHet=5.3738;FS=11.033;InbreedingCoeff=-0.3104;MLEAC=4;MLEAF=0.105;MQ=58.71;MQRankSum=-9.421;QD=1.62;ReadPosRankSum=-4.38;SOR=1.893	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:123,12:135:99:0|1:103984920_G_GAGGATGCAAAGAAGATGGCT:120,0,5104:103984920	15	0	4	0
chr12	103984922	103984922	-	TAAGG	splicing	TDG	NM_001363612:exon7:c.535+2->TAAGG;NM_003211:exon8:c.964+2->TAAGG	.	.	.	444	951	105	0	22	127	0.0523169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.148e-05	0.0003	1.26e-05	1.034e-05	4.798e-05	5.4e-06	3.91e-06	4.77e-06	3.07e-06	0	0	8.22e-05	4.798e-05	0	0	1.147e-05	0	0	0	1.505e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06667	772.7	46	chr12	103984922	.	T	TTAAGG	772.7	.	AC=2;AF=0.067;AN=30;BaseQRankSum=3.96;DP=2041;ExcessHet=1.3;FS=5.251;InbreedingCoeff=-0.2259;MLEAC=2;MLEAF=0.067;MQ=58.85;MQRankSum=-9.421;QD=1.13;ReadPosRankSum=-2.683;SOR=1.285	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:123,12:135:99:0|1:103984920_G_GAGGATGCAAAGAAGATGGCT:121,0,5102:103984920	13	0	2	4
chr12	109099241	109099241	C	T	exonic	UNG	.	nonsynonymous SNV	UNG:NM_003362:exon2:c.C365T:p.P122L,UNG:NM_080911:exon3:c.C392T:p.P131L	Immunodeficiency with hyper IgM, type 5, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	571181	Hyper-IgM_syndrome_type_5	MONDO:MONDO:0011971,MedGen:C1720958,OMIM:608106,Orphanet:101092	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.208	0.0598056217619	0.0006	0.000199681	0.0001	0.0014	0	0	0	0	0	0	0.0001035	16	154602	rs140829672	6.841e-05	6.84e-05	8.032e-05	5.638e-05	0.0024	5.713e-05	5.326e-05	0.0020	0.0018	0.0024	0.0001	0	0	0	0	1.799e-06	0.0002	0	0.0007	0.0007	0.0007	0.0006	0.0023	0.0005	0.0005	0.0019	0.0018	0.0023	0	0.0001	0	0	0	0	0	0.0005	0	0.247	0.26965	T	0.264	0.29442	T	0.003	0.11197	B	0.005	0.11217	B	0.000000	0.84330	D	0.050779	1	0.81001	D	2.255	0.64187	M	-0.99	0.75911	T	-1.91	0.44471	N	0.323	0.37613	-0.5935	0.65080	T	0.313	0.68317	T	10	0.030479461	0.01174	T	0.059806	0.67788	D	0.208	0.49714	.	.	0.882676579953	0.88152	0.5903328770255161	0.58963	0.129621107646	0.14613	0.379963219166	0.22251	T	0.233807	0.60069	T	-0.362425	0.03995	T	-0.296425	0.45101	T	0.0521257350615841	0.05868	T	0.917608	0.70392	D	0.452227	0.64182	0.28855714	0.54873	0.452227	0.64183	0.28855714	0.54872	-5.085	0.37748	T	0.18040434698353905	0.23215	0.112	0.39596	B	.;.	.;.	3.618061	0.51192	23.1	0.8969719610026885	0.19022	0.95847	0.66408	D	AEFDGBI	0.627266	0.60978	D	-0.262706219633788	0.30599	1.707697	-0.119114788744529	0.34619	1.993471	0.999999753061692	0.74766	0.627647	0.40530	0	0.685571	0.66316	0	0.685571	0.62057	0	0.657601	0.63696	0	.	.	5.05	4.15	0.47978	4.278000	0.58741	4.892000	0.45774	-0.184000	0.09925	0.981000	0.35396	0.984000	0.30665	0.983000	0.59808	0.1556:0.8444:0.0:0.0	13.674	0.61917	568	0.70638	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1832.33	34	chr12	109099241	.	C	T	1832.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.329;DP=776;ExcessHet=0;FS=0.596;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.98;ReadPosRankSum=-1.596;SOR=0.616	GT:AD:DP:GQ:PL	0/1:74,79:153:99:1846,0,2053	18	0	1	0
chr12	109914565	109914565	C	T	exonic	TCHP	.	nonsynonymous SNV	TCHP:NM_001143852:exon11:c.C1258T:p.R420C,TCHP:NM_032300:exon11:c.C1258T:p.R420C	.	420	1099	2	1	0	4	0.00181653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	.	0.0058	0.00579073	0.0019	0.0204	0.0013	0	0	6.136e-05	0	0	0.001727	267	154602	rs79799419	0.0005	0.0005	0.0006	0.0004	0.0165	0.0005	0.0004	0.0154	0.0149	0.0165	0.0013	0	0	0	0.0005	2.248e-05	0.0012	8.119e-05	0.0049	0.0049	0.0050	0.0047	0.0170	0.0046	0.0044	0.0160	0.0156	0.0170	0	0.0014	0	0	0	0	0.0001	0.0009	0	0.029	0.45756	D	0.015	0.61642	D	0.998	0.73220	D	0.761	0.56482	P	0.002641	0.36173	N	0.261420	0.999999	0.08975	N	2.62	0.76659	M	2.77	0.11407	T	-3.93	0.73267	D	0.454	0.49146	-1.0733	0.08702	T	0.022	0.09147	T	10	0.0065796375	0.00149	T	.	.	.	0.114	0.32008	.	.	0.259272394797	0.25527	0.24515751901373614	0.24429	0.449017913786	0.44711	0.231103748083	0.02051	T	0.359263	0.72569	T	-0.54199	0.00326	T	-0.537027	0.18589	T	0.0266760185806625	0.01498	T	0.90471	0.66491	D	0.19994262	0.41952	0.109121956	0.26296	0.19994262	0.41952	0.109121956	0.26296	-7.31	0.56267	T	.	.	0.108	0.20469	B	.;.	.;.	4.097266	0.61070	24.3	0.9985073760943588	0.93013	0.28941	0.23690	N	AEFGBHCI	0.141473	0.26365	N	0.0325288970503365	0.43340	2.628808	-0.113051148832053	0.34863	2.010264	0.969353986776802	0.29122	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.57	4.67	0.58089	1.501000	0.35301	3.980000	0.40897	0.599000	0.40250	0.001000	0.13787	0.269000	0.24035	0.017000	0.10941	0.1817:0.7286:0.0:0.0897	6.457	0.21139	577	0.69927	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001010	0.010101	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1818.33	35	chr12	109914565	.	C	T	1818.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.71;DP=753;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.68;ReadPosRankSum=-0.204;SOR=0.766	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:61,48:109:99:0|1:109914556_G_A:1832,0,2380:109914556	18	0	1	0
chr12	111363334	111363334	C	T	exonic	PHETA1	.	nonsynonymous SNV	PHETA1:NM_001177997:exon3:c.G94A:p.A32T,PHETA1:NM_144671:exon3:c.G94A:p.A32T,PHETA1:NM_001177996:exon4:c.G133A:p.A45T	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	.	0.0073	0.00978435	0.0025	0.0260	0.0020	0	0	0.0002	0.0012	0	0.0023997	371	154602	rs61745698	0.0008	0.0008	0.0009	0.0007	0.0235	0.0008	0.0007	0.0222	0.0216	0.0235	0.0023	0.0019	0	1.904e-05	0.0014	0.0001	0.0017	2.319e-05	0.0072	0.0072	0.0071	0.0074	0.0240	0.0069	0.0067	0.0228	0.0223	0.0240	0	0.0045	0.0023	0	0	0	0.0002	0.0066	0	0.422	0.14894	T	0.79	0.09205	T	0.16	0.28337	B	0.032	0.22131	B	.	.	.	.	1	0.81001	D	-0.89	0.01422	N	1.58	0.29085	T	1.33	0.01263	N	0.068	0.05414	-0.9975	0.30618	T	0.007	0.02321	T	9	0.0028662086	0.00046	T	.	.	.	0.032	0.07718	.	.	0.234412748748	0.23057	0.17446614450392645	0.17365	0.485688750366	0.47441	0.431137412786	0.29363	T	0.090649	0.48470	T	-0.535327	0.00357	T	-0.52214	0.20077	T	0.0149658262908538	0.00320	T	0.759724	0.39853	T	0.020514213	0.00613	0.0409078	0.04529	0.020514213	0.00612	0.0409078	0.04529	-2.011	0.06168	T	.	.	0.085	0.10545	B	.;.;.;.;.	.;.;.;.;.	1.224682	0.16187	12.38	0.60034275564114814	0.06366	0.23424	0.22071	N	AEFDBI	0.018167	0.00530	N	-0.8631371266134	0.11728	0.5675913	-0.745718706185196	0.15828	0.8343487	0.999352280442449	0.39259	0.718356	0.82227	0	0.588066	0.40923	0	0.570548	0.19454	0	0.662433	0.64102	0	.	.	4.59	0.981	0.18875	1.612000	0.36501	0.292000	0.16883	0.511000	0.23309	1.000000	0.71638	0.040000	0.21562	0.931000	0.46843	0.0:0.291:0.2416:0.4674	2.913	0.05389	624	0.65661	.;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain;Pleckstrin homology domain|Pleckstrin homology domain	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.005051	0.002717	0.005848	0.000000	0.000000	0.000000	0.003788	0.02632	1987.33	39	chr12	111363334	.	C	T	1987.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.46;DP=799;ExcessHet=0;FS=4.175;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.61;ReadPosRankSum=-0.537;SOR=1.069	GT:AD:DP:GQ:PL	0/1:58,78:136:99:2001,0,1378	18	0	1	0
chr12	113962333	113962333	T	C	exonic	RBM19	.	nonsynonymous SNV	RBM19:NM_001146698:exon2:c.A118G:p.K40E,RBM19:NM_001146699:exon2:c.A118G:p.K40E,RBM19:NM_016196:exon2:c.A118G:p.K40E	.	428	1092	2	0	0	2	0.000914913	.	.	.	2354809	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.168	0.0122823536657	7.7e-05	0.000199681	0.0002	0	0	0	0	0.0002	0.0011	0.0002	0.0001358	21	154602	rs145566044	8.893e-05	8.893e-05	8.576e-05	9.213e-05	0.0005	7.622e-05	7.167e-05	0.0001	9.45e-05	5.974e-05	4.472e-05	0	0	0	0.0005	8.723e-05	0.0002	0.0002	5.251e-05	5.249e-05	6.422e-05	4.027e-05	0.0002	2.555e-05	1.828e-05	3.761e-05	2.575e-05	0	0	6.533e-05	0	0	0	0	8.819e-05	0	0.0002	0.003	0.68238	D	0.007	0.69154	D	0.936	0.52359	P	0.685	0.53610	P	0.000000	0.84330	D	0.000000	0.999981	0.54805	D	1.685	0.43254	L	2.25	0.17761	T	-3.62	0.69593	D	0.574	0.59986	-1.1245	0.02065	T	0.072	0.29163	T	10	0.27903348	0.45475	T	0.012282	0.30711	T	0.168	0.42943	.	.	0.243972157842	0.24002	0.7121516131403541	0.71157	0.661331589679	0.58920	0.67149502039	0.63051	T	0.211404	0.57216	T	-0.275003	0.11205	T	-0.340651	0.40272	T	0.372308373451233	0.27886	T	0.935406	0.75832	D	0.71601653	0.78940	0.69638664	0.82122	0.71601653	0.78942	0.69638664	0.82123	-15.022	0.95903	D	.	.	0.284	0.51832	B	.;.;.	.;.;.	4.314340	0.65983	24.9	0.99850774106828566	0.93013	0.96009	0.67122	D	AEFDGBCI	0.650774	0.62476	D	0.422117257306333	0.62639	4.483232	0.406214478372726	0.61952	4.402708	0.99999999989349	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.07	3.9	0.44240	5.666000	0.67729	6.062000	0.53180	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.1451:0.8549	11.976	0.52381	946	0.12043	RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|Probable RNA-binding protein 19, RNA recognition motif 1;RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|Probable RNA-binding protein 19, RNA recognition motif 1;RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|Probable RNA-binding protein 19, RNA recognition motif 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	0.002014	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.000000	0.02632	2703.33	33	chr12	113962333	.	T	C	2703.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.99;DP=890;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.08;ReadPosRankSum=0.128;SOR=0.678	GT:AD:DP:GQ:PL	0/1:130,114:244:99:2717,0,3614	18	0	1	0
chr12	118016853	118016853	A	G	exonic	RFC5	.	nonsynonymous SNV	RFC5:NM_001206801:exon1:c.A26G:p.Q9R,RFC5:NM_007370:exon1:c.A26G:p.Q9R	.	416	1104	2	0	0	2	0.000904977	.	.	.	2397309	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.022	0.00797513108604	7.7e-05	.	5.63e-05	0	9.553e-05	0	0.0002	6.781e-05	0	0	3.88e-05	6	154602	rs368901773	1.095e-05	1.094e-05	1.498e-05	6.878e-06	0.0002	6.48e-06	5.25e-06	7.42e-06	5.03e-06	0	4.474e-05	0	0	0	0.0002	1.169e-05	0	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	0.057	0.37966	T	0.403	0.14865	T	0.039	0.21116	B	0.007	0.12992	B	0.430924	0.12749	N	0.705715	1	0.81001	D	1.245	0.31408	L	2.57	0.13552	T	-0.01	0.07155	N	0.262	0.29659	-1.0251	0.22050	T	0.020	0.08313	T	10	0.08179921	0.13431	T	0.007975	0.21136	T	0.022	0.04323	.	.	0.272639205421	0.26888	0.5999380220822944	0.59924	0.419956848209	0.42533	0.406239926815	0.25937	T	0.101694	0.40869	T	-0.356579	0.04327	T	-0.642321	0.09500	T	0.147223894878771	0.16880	T	0.370263	0.08727	T	0.13674401	0.31688	0.19127727	0.42577	0.13674401	0.31688	0.19127727	0.42576	-5.088	0.37780	T	.	.	0.072	0.04198	B	.	.	2.371431	0.30428	18.43	0.92656415644101153	0.22135	0.73920	0.36157	D	ALL	0.108380	0.21563	N	-0.567080001363476	0.19952	1.048189	-0.448078870118383	0.23604	1.288055	0.999999999999605	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.62	3.46	0.38718	0.807000	0.26800	2.459000	0.32846	0.653000	0.53440	1.000000	0.71638	1.000000	0.68203	0.175000	0.21139	0.7129:0.1909:0.0962:0.0	4.883	0.13046	963	0.08280	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	620.33	33	chr12	118016853	.	A	G	620.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.922;DP=676;ExcessHet=0;FS=2.508;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.2;ReadPosRankSum=-1.085;SOR=0.402	GT:AD:DP:GQ:PL	0/1:19,28:47:99:634,0,482	18	0	1	0
chr12	120184134	120184134	C	T	exonic	GCN1	.	nonsynonymous SNV	GCN1:NM_006836:exon4:c.G295A:p.G99S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.138	0.00427318416725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.444	0.09155	T	0.731	0.05146	T	.	.	.	.	.	.	0.009218	0.30465	N	0.374520	0.579509	0.31111	N	.	.	.	5.92	0.00621	T	-0.14	0.09135	N	0.131	0.12627	-0.9793	0.35162	T	0.002	0.00585	T	10	0.10037807	0.18275	T	0.004273	0.10341	T	0.138	0.37187	0.311	0.28451	0.161926535498	0.15789	0.13429201583239306	0.13353	1.20759006671	0.80741	0.526822924614	0.42588	T	.	.	.	-0.255491	0.13433	T	-0.604772	0.12413	T	0.301692287183439	0.25074	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.05979	B	.	.	2.957567	0.39377	20.9	0.97864743506072926	0.36492	0.94331	0.60825	D	AEFDBI	0.159363	0.28515	N	-0.318061240245551	0.28461	1.570078	-0.0510102600932483	0.37446	2.192643	0.999674897772599	0.41644	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.711	0.71501	0	.	.	5.93	5.93	0.95888	1.460000	0.34855	3.967000	0.40794	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.908000	0.44358	0.0:0.8867:0.0:0.1133	13.103	0.58646	455	0.79073	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1209.33	34	chr12	120184134	.	C	T	1209.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.03;DP=735;ExcessHet=0;FS=5.27;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=0.524;SOR=0.76	GT:AD:DP:GQ:PL	0/1:46,45:91:99:1223,0,1143	18	0	1	0
chr12	122547931	122547931	C	T	exonic	KNTC1	.	nonsynonymous SNV	KNTC1:NM_014708:exon12:c.C949T:p.L317F	.	522	997	3	0	0	3	0.00150225	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.0101571806243	0.0024	0.000998403	0.0045	0.0008	0.0024	0	0.0021	0.0076	0	0.0027	0.0020569	318	154602	rs61751321	0.0027	0.0028	0.0027	0.0027	0.0030	0.0026	0.0026	0.0027	0.0027	0.0004	0.0006	0.0111	0	0.0008	0.0021	0.0028	0.0031	0.0030	0.0020	0.0020	0.0021	0.0018	0.0031	0.0018	0.0017	0.0025	0.0024	0.0006	0	0.0009	0.0127	0	0.0003	0.0034	0.0029	0.0009	0.0031	0.233	0.44694	T	0.024	0.56640	D	0.983	0.65571	D	0.799	0.60933	P	0.000444	0.44317	D	0.201753	0.562741	0.32227	D	2.32	0.66415	M	2.3	0.16953	T	-1.54	0.37375	N	0.306	0.37613	-1.1594	0.00771	T	0.082	0.32411	T	10	0.010035694	0.00225	T	0.010157	0.26368	T	0.076	0.22200	.	.	0.287603790349	0.28378	0.31912038178375274	0.31825	0.277545592403	0.30233	0.476057469845	0.35514	T	0.019159	0.17926	T	-0.447948	0.01161	T	-0.419274	0.31159	T	0.0565179828685247	0.06610	T	0.834817	0.50983	T	0.12697151	0.29725	0.12049781	0.29079	0.12697151	0.29725	0.12049781	0.29078	-5.351	0.40445	T	.	.	0.286	0.51840	B	.;.	.;.	4.625816	0.73504	26.0	0.99476121267624085	0.66633	0.89329	0.49728	D	AEFBI	0.277453	0.39196	N	0.527346007649912	0.68714	5.25519	0.513940148436744	0.68928	5.288114	0.970816510363126	0.29236	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.683762	0.67416	0	.	.	5.35	5.35	0.76297	3.312000	0.51637	7.662000	0.64290	0.535000	0.24933	1.000000	0.71638	1.000000	0.68203	0.936000	0.47498	0.0:0.8244:0.1756:0.0	12.922	0.57632	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.003067	0.000000	0.02632	1248.33	35	chr12	122547931	.	C	T	1248.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.55;DP=730;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.74;ReadPosRankSum=1.9;SOR=0.768	GT:AD:DP:GQ:PL	0/1:47,51:98:99:1262,0,1054	18	0	1	0
chr12	122729619	122729619	G	A	exonic	HCAR1	.	nonsynonymous SNV	HCAR1:NM_032554:exon1:c.C721T:p.L241F	.	425	1073	24	0	0	24	0.0110599	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.256	0.0188093097858	0.0010	0.00219649	0.0023	9.614e-05	0.0013	0	0.0003	0.0019	0.0055	0.0078	0.0022639	350	154602	rs140482291	0.0021	0.0021	0.0019	0.0024	0.0140	0.0021	0.0021	0.0116	0.0107	0.0007	0.0020	0.0081	0	0.0005	0.0140	0.0017	0.0028	0.0081	0.0016	0.0016	0.0015	0.0017	0.0066	0.0014	0.0014	0.0048	0.0042	0.0004	0	0.0019	0.0066	0	0.0003	0.0068	0.0019	0.0047	0.0066	0.011	0.55530	D	0.03	0.54159	D	0.998	0.73220	D	0.983	0.75793	D	0.037419	0.24405	N	0.295265	0.999998	0.08975	N	1.93	0.51437	L	0.99	0.41750	T	-2.22	0.49846	N	0.135	0.13198	-0.8322	0.53159	T	0.226	0.59108	T	10	0.007065475	0.00161	T	0.018809	0.40992	T	0.256	0.56694	.	.	0.637577279198	0.63459	0.30858399806346204	0.30771	0.650799847485	0.58349	0.424611747265	0.28471	T	0.140204	0.47462	T	-0.366664	0.03766	T	-0.294898	0.45261	T	0.0235094242187121	0.01085	T	0.69953	0.30934	T	0.22321285	0.44937	0.23477186	0.48703	0.22321285	0.44937	0.23477186	0.48702	-6.629	0.51274	T	.	.	0.204	0.42948	B	.	.	3.194699	0.43421	21.7	0.99814953146800689	0.89885	0.23035	0.21944	N	AEFBHCI	0.093794	0.18972	N	0.18923069861687	0.50682	3.255928	0.0251009080533347	0.40883	2.447117	0.999939323708171	0.46732	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.51	4.62	0.56946	0.098000	0.15027	3.535000	0.38974	0.676000	0.76740	0.002000	0.15269	1.000000	0.68203	0.608000	0.31589	0.0918:0.0:0.9082:0.0	10.171	0.42086	459	0.78817	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	0.009567	0.000000	0.013587	0.020468	0.000000	0.017241	0.006098	0.003788	0.02632	2267.33	35	chr12	122729619	.	G	A	2267.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.07;DP=779;ExcessHet=0;FS=3.065;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.97;ReadPosRankSum=-0.323;SOR=0.97	GT:AD:DP:GQ:PL	0/1:62,80:142:99:2281,0,1550	18	0	1	0
chr12	122980367	122980368	CA	-	exonic	ARL6IP4	.	frameshift deletion	ARL6IP4:NM_001002251:exon1:c.163_164del:p.Q55Vfs*206,ARL6IP4:NM_001002252:exon1:c.163_164del:p.Q55Vfs*195,ARL6IP4:NM_001278378:exon1:c.163_164del:p.Q55Vfs*206,ARL6IP4:NM_001278379:exon1:c.163_164del:p.Q55Vfs*75,ARL6IP4:NM_016638:exon1:c.163_164del:p.Q55Vfs*195,ARL6IP4:NM_018694:exon1:c.163_164del:p.Q55Vfs*214	.	418	1098	6	0	0	6	0.0027248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0013	.	7.194e-05	0	0	0	0	5.973e-05	0	0.0005	6.47e-05	10	154602	rs757636429	6.607e-05	7.319e-05	6.277e-05	6.964e-05	0.0037	5.365e-05	4.957e-05	0.0021	0.0017	0	5.775e-05	0	0	0	0.0037	4.56e-05	0.0001	0.0004	0.0001	0.0001	6.428e-05	0.0001	0.0010	6.51e-05	5.322e-05	0.0004	0.0003	2.407e-05	0	0	0	0	0	0	0.0001	0.0005	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2065.29	33	chr12	122980366	.	TCA	T	2065.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.374;DP=733;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.67;ReadPosRankSum=0.465;SOR=0.719	GT:AD:DP:GQ:PL	0/1:51,54:105:99:2079,0,1959	18	0	1	0
chr12	123164082	123164082	G	A	exonic	MPHOSPH9	.	nonsynonymous SNV	MPHOSPH9:NM_022782:exon19:c.C2776T:p.R926W	.	.	.	.	.	.	.	.	.	.	.	3982473	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.277	0.00814226352796	.	.	3.295e-05	0	0	0.0001	0	1.498e-05	0	0.0001	2.59e-05	4	154602	rs747387863	2.942e-05	2.941e-05	1.361e-05	4.538e-05	0.0003	2.216e-05	1.97e-05	0.0002	0.0001	0.0003	0	0	0	0	0	1.079e-05	0	0.0003	3.287e-05	3.284e-05	1.285e-05	5.382e-05	0.0002	1.261e-05	7.98e-06	3.251e-05	1.916e-05	9.657e-05	0	0	0	0	0	0	0	0	0.0002	.	.	.	0.006	0.79402	D	.	.	.	.	.	.	0.106829	0.19597	N	0.523950	0.999994	0.08975	N	2.56	0.74772	M	.	.	.	.	.	.	0.266	0.30118	-0.9270	0.44573	T	0.144	0.46623	T	10	0.23975477	0.41122	T	0.008142	0.21572	T	0.277	0.59375	.	.	0.348101942276	0.34424	0.34388896436945887	0.34302	.	.	0.237189263105	0.02543	T	0.287198	0.71454	T	-0.167038	0.25684	T	-0.177391	0.56764	T	0.568173289299011	0.35165	D	0.787421	0.42665	T	0.06007218	0.12282	0.0640045	0.12764	0.06007218	0.12282	0.0640045	0.12764	-5.027	0.37132	T	.	.	0.084	0.23430	B	.;.;.	.;.;.	4.512711	0.70686	25.6	0.998915782934373	0.96589	0.95416	0.64634	D	AEFDGBIJ	0.567658	0.57316	D	0.290926952585833	0.55688	3.732858	0.21084943803579	0.50447	3.236797	0.999999918821054	0.74766	0.706548	0.73137	0	0.696144	0.67643	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.92	5.03	0.67015	5.666000	0.67729	4.523000	0.43694	-0.163000	0.11536	0.892000	0.31242	1.000000	0.68203	0.197000	0.21808	0.0741:0.0:0.9259:0.0	13.264	0.59556	548	0.72362	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2086.33	35	chr12	123164082	.	G	A	2086.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.92;DP=768;ExcessHet=0;FS=5.038;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.73;ReadPosRankSum=0.129;SOR=1.132	GT:AD:DP:GQ:PL	0/1:75,77:152:99:2100,0,1794	18	0	1	0
chr12	123256943	123256943	A	G	exonic	C12orf65	.	nonsynonymous SNV	C12orf65:NM_001143905:exon3:c.A413G:p.K138R,C12orf65:NM_001194995:exon3:c.A413G:p.K138R,C12orf65:NM_152269:exon3:c.A413G:p.K138R	Combined oxidative phosphorylation deficiency 7, Autosomal recessive;Spastic paraplegia 55, autosomal recessive, Autosomal recessive	5	1507	10	0	0	10	0.00330688	.	.	YES	140299	Combined_oxidative_phosphorylation_defect_type_7|Hereditary_spastic_paraplegia|MTRFR-related_disorder|not_provided|not_specified|Spastic_paraplegia	MONDO:MONDO:0013306,MedGen:C3150801,OMIM:613559,Orphanet:254930|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|.|MedGen:C3661900|MedGen:CN169374|Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.317	0.0071938769051	0.0011	0.00139776	0.0005	0.0027	0.0003	0	0	0.0001	0.0011	0.0008	0.000414	64	154602	rs147328685	0.0002	0.0002	0.0002	0.0002	0.0043	0.0002	0.0002	0.0030	0.0026	0.0024	0.0003	0	0	1.872e-05	0.0043	8.454e-05	0.0005	0.0009	0.0008	0.0008	0.0007	0.0010	0.0024	0.0007	0.0007	0.0020	0.0018	0.0024	0	0.0006	0	0	0	0	0.0002	0.0005	0.0010	0.077	0.34095	T	0.067	0.49942	T	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.045636	0.982538	0.39903	D	1.58	0.39772	L	2.76	0.36872	T	-1.38	0.34992	N	0.401	0.46928	-0.8001	0.55139	T	0.146	0.47074	T	10	0.012564033	0.00287	T	0.007194	0.19061	T	0.317	0.63904	.	.	0.556619688028	0.55322	0.29064813456327765	0.28977	0.0395402123316	0.04217	.	.	.	0.016958	0.19862	T	-0.0206502	0.48760	T	-0.267439	0.48078	T	0.0430072025669549	0.04238	T	0.70393	0.31399	T	0.13206269	0.30763	0.19950615	0.43835	0.13206269	0.30763	0.19950615	0.43834	-3.83	0.21253	T	0.24641855373276764	0.33374	0.103	0.19316	B	.;.;.;.	.;.;.;.	3.880964	0.56402	23.7	0.99724395311326375	0.82266	0.99604	0.97902	D	AEBI	0.910932	0.86952	D	0.797922432499068	0.85975	8.739654	0.808228605062644	0.90359	10.37167	0.999999608732579	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.86	5.86	0.93936	8.885000	0.92067	9.105000	0.78787	0.754000	0.88378	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	1.0:0.0:0.0:0.0	14.546	0.67619	467	0.78285	Peptide chain release factor class I/class II;Peptide chain release factor class I/class II;.;Peptide chain release factor class I/class II	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.003543	0.000000	0.001359	0.003012	0.000000	0.000000	0.000000	0.011364	0.02632	1193.33	34	chr12	123256943	.	A	G	1193.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.664;DP=698;ExcessHet=0;FS=6.484;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.05;ReadPosRankSum=1.56;SOR=0.262	GT:AD:DP:GQ:PL	0/1:28,42:70:99:1207,0,756	18	0	1	0
chr12	133221281	133221281	G	A	exonic	ANHX	.	nonsynonymous SNV	ANHX:NM_001191054:exon7:c.C892T:p.R298W,ANHX:NM_001372060:exon8:c.C1204T:p.R402W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.00423989117431	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1386163786	5.564e-05	5.472e-05	5.849e-05	5.272e-05	0.0001	4.519e-05	4.175e-05	5.456e-05	3.683e-05	0.0001	0.0001	0	0	2.95e-05	0	5.191e-05	0.0002	2.524e-05	2.63e-05	2.627e-05	1.285e-05	4.039e-05	4.83e-05	8.15e-06	5.14e-06	8e-06	2.99e-06	4.83e-05	0	0	0	0	0	0	1.47e-05	0.0005	0	0.001	0.78490	D	0.003	0.76473	D	0.989	0.62824	D	0.248	0.38946	B	.	.	.	.	1	0.08975	N	0	0.06538	N	1.52	0.30669	T	-0.57	0.17210	N	0.092	0.07125	-1.0511	0.14092	T	0.027	0.11441	T	8	0.09701359	0.17442	T	0.00424	0.10247	T	0.062	0.17934	0.304	0.27325	0.300449992093	0.29664	0.08090693444020869	0.08025	.	.	0.236495569348	0.02483	T	0.005872	0.05316	T	-0.387212	0.02803	T	-0.600331	0.12783	T	0.165013452935124	0.18234	T	0.444256	0.12390	T	0.052578002	0.09828	0.040173143	0.04279	0.052578002	0.09827	0.040173143	0.04279	-3.582	0.17596	T	.	.	0.090	0.12702	B	.;.	.;.	2.330560	0.29851	18.25	0.96774070861775752	0.31049	0.01090	0.04012	N	AEFBI	0.054420	0.09892	N	-0.888909805864764	0.11105	0.5341617	-1.00809578163504	0.09607	0.47891	2.61942441979862E-4	0.06244	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.62	0.676	0.17125	0.293000	0.18785	0.438000	0.18395	-0.169000	0.11342	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2325:0.2026:0.5649:0.0	3.819	0.08341	369	0.84396	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	724.33	35	chr12	133221281	.	G	A	724.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.213;DP=675;ExcessHet=0;FS=1.096;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.2;ReadPosRankSum=0.171;SOR=0.458	GT:AD:DP:GQ:PL	0/1:23,28:51:99:738,0,555	18	0	1	0
chr13	20601932	20601932	G	A	exonic	IFT88	.	nonsynonymous SNV	IFT88:NM_001318491:exon11:c.G983A:p.S328N,IFT88:NM_001353573:exon11:c.G983A:p.S328N,IFT88:NM_001353575:exon11:c.G983A:p.S328N,IFT88:NM_001353579:exon11:c.G407A:p.S136N,IFT88:NM_001353572:exon12:c.G1040A:p.S347N,IFT88:NM_001353574:exon12:c.G881A:p.S294N,IFT88:NM_006531:exon12:c.G1040A:p.S347N,IFT88:NM_001318493:exon13:c.G1067A:p.S356N,IFT88:NM_001353565:exon13:c.G1067A:p.S356N,IFT88:NM_001353567:exon13:c.G1067A:p.S356N,IFT88:NM_001353571:exon13:c.G938A:p.S313N,IFT88:NM_001353578:exon13:c.G938A:p.S313N,IFT88:NM_001353566:exon14:c.G1067A:p.S356N,IFT88:NM_001353569:exon14:c.G965A:p.S322N,IFT88:NM_175605:exon14:c.G1067A:p.S356N,IFT88:NM_001353568:exon15:c.G1040A:p.S347N,IFT88:NM_001353570:exon15:c.G965A:p.S322N,IFT88:NM_001353576:exon15:c.G965A:p.S322N,IFT88:NM_001353577:exon15:c.G965A:p.S322N	.	11	1503	8	0	0	8	0.00265428	0.0003	0.088	.	1595830	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.040	.	.	0.00499201	0.0038	0.0001	0.0006	0.0021	0	4.397e-05	0	0.0243	0.0023932	370	154602	rs182766679	0.0013	0.0012	0.0007	0.0018	0.0183	0.0012	0.0012	0.0175	0.0172	3.205e-05	6.874e-05	0	0.0015	0	0.0009	3.04e-05	0.0015	0.0183	0.0008	0.0008	0.0005	0.0011	0.0207	0.0007	0.0006	0.0174	0.0162	0	0	0	0	0.0025	0	0.0034	0	0.0014	0.0207	0.55	0.06913	T	0.785	0.04260	T	0.0	0.02946	B	0.0	0.01387	B	0.000399	0.44960	N	0.264028	0.899041	0.27737	N	-0.945	0.01271	N	1.56	0.29602	T	-0.63	0.18459	N	0.095	0.07535	-1.0000	0.29917	T	0.030	0.13067	T	10	0.004421115	0.00090	T	.	.	.	0.040	0.10527	.	.	0.213573922156	0.20996	0.3566835636341463	0.35582	0.04256783019	0.04588	0.470571756363	0.34759	T	0.092808	0.39080	T	-0.639389	0.00084	T	-0.676278	0.07212	T	0.00369113634903109	0.00039	T	0.826617	0.49005	T	0.07901627	0.18028	0.07158327	0.15346	0.07901627	0.18027	0.07158327	0.15346	.	.	.	.	.	0.064	0.02927	B	.;.	.;.	1.035842	0.14163	10.74	0.91212909007762766	0.20469	0.57605	0.30420	D	AEFGI	0.097454	0.19655	N	-0.695906245394199	0.16137	0.8195669	-0.520567061717589	0.21595	1.168967	0.318550516716753	0.19360	0.638212	0.43195	0	0.670034	0.63936	0	0.618467	0.43123	0	0.655142	0.61905	0	.	.	5.51	0.336	0.15198	1.211000	0.31987	0.932000	0.22787	0.618000	0.50648	0.997000	0.40164	0.478000	0.25088	0.989000	0.64315	0.5686:0.0:0.4314:0.0	10.72	0.45232	558	0.71484	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.004536	0.000000	0.000000	0.011765	0.000000	0.000000	0.006098	0.007576	0.02632	298.33	34	chr13	20601932	.	G	A	298.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.28;DP=656;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.65;ReadPosRankSum=-0.365;SOR=0.46	GT:AD:DP:GQ:PL	0/1:27,12:39:99:312,0,870	18	0	1	0
chr13	20643565	20643565	G	A	exonic	IFT88	.	nonsynonymous SNV	IFT88:NM_001353573:exon17:c.G1649A:p.R550H,IFT88:NM_001318491:exon18:c.G1736A:p.R579H,IFT88:NM_001353575:exon18:c.G1736A:p.R579H,IFT88:NM_001353579:exon18:c.G1160A:p.R387H,IFT88:NM_001353572:exon19:c.G1793A:p.R598H,IFT88:NM_001353574:exon19:c.G1634A:p.R545H,IFT88:NM_006531:exon19:c.G1793A:p.R598H,IFT88:NM_001318493:exon20:c.G1820A:p.R607H,IFT88:NM_001353565:exon20:c.G1820A:p.R607H,IFT88:NM_001353567:exon20:c.G1820A:p.R607H,IFT88:NM_001353571:exon20:c.G1691A:p.R564H,IFT88:NM_001353578:exon20:c.G1691A:p.R564H,IFT88:NM_001353566:exon21:c.G1820A:p.R607H,IFT88:NM_001353569:exon21:c.G1718A:p.R573H,IFT88:NM_175605:exon21:c.G1820A:p.R607H,IFT88:NM_001353568:exon22:c.G1793A:p.R598H,IFT88:NM_001353570:exon22:c.G1718A:p.R573H,IFT88:NM_001353576:exon22:c.G1718A:p.R573H,IFT88:NM_001353577:exon22:c.G1718A:p.R573H	.	9	1504	9	0	0	9	0.0029831	.	.	.	1592221	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.087	.	.	0.00499201	0.0028	9.632e-05	0.0003	0.0015	0.0002	4.507e-05	0.0011	0.0196	0.0024515	379	154602	rs188470141	0.0012	0.0012	0.0007	0.0018	0.0181	0.0012	0.0012	0.0174	0.0171	9.011e-05	0.0001	0	0.0015	1.873e-05	0.0009	7.403e-05	0.0015	0.0181	0.0008	0.0008	0.0005	0.0011	0.0203	0.0007	0.0006	0.0171	0.0158	9.63e-05	0	6.536e-05	0	0.0025	0	0.0034	0	0.0014	0.0203	0.218	0.19500	T	0.149	0.33780	T	0.012	0.16265	B	0.001	0.04355	B	0.003193	0.35300	N	0.353703	1	0.08975	N	0.975	0.24501	L	-0.87	0.74583	T	-0.75	0.21003	N	0.11	0.09772	-0.7993	0.55185	T	0.264	0.63534	T	10	0.00960961	0.00216	T	.	.	.	0.087	0.25287	.	.	0.637772331904	0.63479	0.2020895727021521	0.20125	0.0742263244227	0.08323	0.260227262974	0.04917	T	0.17505	0.52449	T	-0.485336	0.00689	T	-0.454991	0.27146	T	0.0118101942175472	0.00183	T	0.794321	0.43637	T	0.036050756	0.04359	0.028611887	0.01113	0.036050756	0.04359	0.028611887	0.01113	.	.	.	.	.	0.068	0.02765	B	.;.	.;.	2.144731	0.27317	17.42	0.68046561351964296	0.08538	0.08402	0.14336	N	AEFI	0.090809	0.18398	N	-0.853058731837649	0.11975	0.5809623	-0.871045158593556	0.12782	0.6595174	0.0185398046386352	0.13069	0.638212	0.43195	0	0.670034	0.63936	0	0.602189	0.34648	0	0.668105	0.65232	0	.	.	5.69	3.7	0.41607	1.479000	0.35061	4.414000	0.43291	-0.104000	0.15758	0.060000	0.21767	0.998000	0.33993	0.052000	0.15357	0.329:0.1742:0.4968:0.0	4.453	0.11050	555	0.71762	.;Tetratricopeptide repeat-containing 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	0.004028	0.000000	0.000000	0.008772	0.000000	0.000000	0.006098	0.007576	0.02632	1374.33	35	chr13	20643565	.	G	A	1374.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.68;DP=749;ExcessHet=0;FS=1.491;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.85;ReadPosRankSum=1.05;SOR=0.529	GT:AD:DP:GQ:PL	0/1:62,54:116:99:1388,0,1468	18	0	1	0
chr13	24435475	24435475	C	T	splicing	PARP4	NM_006437:exon31:c.3667-1G>A	.	.	.	439	1073	8	2	0	12	0.0055607	0.9999	0.77	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.000399361	0.0007	0	8.764e-05	0.0007	0	0.0004	0	0.0035	0.0005239	81	154602	rs201251739	0.0005	0.0005	0.0004	0.0006	0.0033	0.0004	0.0004	0.0030	0.0029	3.167e-05	2.672e-05	0.0002	0.0008	2.049e-05	0.0024	0.0003	0.0005	0.0033	0.0003	0.0003	0.0002	0.0004	0.0041	0.0002	0.0002	0.0027	0.0023	0	0	0.0001	0	0.0002	0	0.0034	0.0003	0.0005	0.0041	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.575275	0.31144	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.661043	0.00062	T	-0.726623	0.04482	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.852816	0.79340	27.1	0.89243153055348434	0.18631	0.31660	0.24393	N	AEFBI	.	.	.	0.357936369023394	0.59158	4.093148	-0.0162358053320742	0.38980	2.304494	7.58805709476196E-4	0.07758	0.295142	0.05270	0	0.30413	0.05452	0	0.231597	0.04857	0	0.221052	0.04502	0	0.0971518	0.21753	2.19	2.19	0.26890	2.450000	0.44601	3.484000	0.38668	0.430000	0.20916	0.652000	0.28189	0.998000	0.33993	0.083000	0.17415	0.0:1.0:0.0:0.0	7.918	0.28995	864	0.32732	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	545.33	36	chr13	24435475	.	C	T	545.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.15;DP=653;ExcessHet=0;FS=1.157;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.84;MQRankSum=1.14;QD=12.39;ReadPosRankSum=-0.319;SOR=0.502	GT:AD:DP:GQ:PL	0/1:20,24:44:99:559,0,462	18	0	1	0
chr13	24870680	24870680	C	T	exonic	RNF17	.	nonsynonymous SNV	RNF17:NM_001184993:exon32:c.C4376T:p.A1459V,RNF17:NM_031277:exon32:c.C4388T:p.A1463V	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.00660684815731	0.0005	0.000199681	0.0007	9.614e-05	0.0003	0	0	0.0004	0.0022	0.0027	0.0005951	92	154602	rs146604608	0.0008	0.0008	0.0007	0.0008	0.0028	0.0007	0.0007	0.0025	0.0024	0.0001	0	0	0	0.0001	0.0003	0.0007	0.0007	0.0028	0.0005	0.0005	0.0003	0.0006	0.0035	0.0004	0.0003	0.0022	0.0018	9.626e-05	0	6.534e-05	0	0.0002	0.0005	0	0.0006	0.0005	0.0035	0.363	0.30515	T	0.139	0.33666	T	0.893	0.49136	P	0.511	0.47948	P	0.000846	0.41440	D	0.106561	0.987266	0.40562	D	1.475	0.37068	L	2.92	0.09915	T	-0.7	0.27052	N	0.321	0.36148	-1.0304	0.20325	T	0.024	0.10058	T	10	0.007950842	0.00181	T	0.006607	0.17444	T	0.030	0.07022	.	.	0.043077524339	0.03247	0.5140814748932145	0.51330	0.808300792543	0.66608	0.38685798645	0.23226	T	0.045132	0.27029	T	-0.533041	0.00369	T	-0.54369	0.17937	T	0.0163676558391729	0.00405	T	0.80282	0.44919	T	0.055439223	0.10775	0.071957536	0.15469	0.055439223	0.10774	0.071957536	0.15469	-3.247	0.13063	T	.	.	0.146	0.34049	B	.;.;.	.;.;.	3.530604	0.49532	22.8	0.99783628384528844	0.87043	0.20511	0.21068	N	AEFDI	0.040784	0.06114	N	-0.191752183969101	0.33477	1.899695	-0.0903251467420091	0.35788	2.074768	0.385524787909593	0.19999	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.79	4.84	0.62125	0.856000	0.27473	4.778000	0.44817	0.549000	0.26987	0.585000	0.27626	1.000000	0.68203	0.537000	0.29868	0.0:0.8712:0.0:0.1288	9.355	0.37322	894	0.26265	Tudor domain;Tudor domain;Tudor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	1450.33	36	chr13	24870680	.	C	T	1450.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.211;DP=747;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.79;ReadPosRankSum=-0.744;SOR=0.655	GT:AD:DP:GQ:PL	0/1:61,62:123:99:1464,0,1577	18	0	1	0
chr13	25097003	25097003	A	T	exonic	PABPC3	.	stopgain	PABPC3:NM_030979:exon1:c.A805T:p.K269X	.	424	1083	15	0	0	15	0.00687758	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1277822604	0.0002	0.0050	0.0002	0.0002	0.0041	0.0002	0.0001	0.0035	0.0033	0	0.0016	7.768e-05	0.0041	0	0	4.503e-06	3.344e-05	0.0004	0.0041	0.0091	0.0035	0.0048	0.0657	0.0039	0.0038	0.0596	0.0572	0.0004	0	0.0089	0.0070	0.0657	0.0011	0.0034	0.0010	0.0058	0.0126	.	.	.	.	.	.	.	.	.	.	.	.	0.000139	0.49741	U	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.085	0.06190	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.493707	0.94111	D	0.471	0.94033	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	6.140945	0.94653	34	0.9935812595185205	0.60904	0.74223	0.36307	D	AEFDGBCI	0.049555	0.08574	N	0.46821757552781	0.65244	4.798183	0.20675132937927	0.50222	3.216508	0.268396305870421	0.18866	0.706298	0.61202	0	0.693144	0.66847	0	0.709663	0.75317	0	0.530356	0.10902	0	.	.	0.875	0.875	0.18266	6.513000	0.73652	9.425000	0.80773	0.393000	0.20503	1.000000	0.71638	1.000000	0.68203	0.770000	0.36519	1.0:0.0:0.0:0.0	5.899	0.18200	929	0.16858	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1579	3058.4	221	chr13	25097003	.	A	T	3058.4	.	AC=6;AF=0.158;AN=38;BaseQRankSum=-0.405;DP=3659;ExcessHet=2.0135;FS=2.941;InbreedingCoeff=-0.1875;MLEAC=6;MLEAF=0.158;MQ=59.24;MQRankSum=-3.073;QD=2.12;ReadPosRankSum=-1.584;SOR=1.063	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:245,28:273:99:0|1:25097003_A_T:418,0,10199:25097003	13	0	6	0
chr13	25097017	25097020	GACG	-	exonic	PABPC3	.	frameshift deletion	PABPC3:NM_030979:exon1:c.819_822del:p.T274Nfs*9	.	426	825	261	1	9	272	0.13748	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0028	0.0002	0.0002	0.0040	0.0002	0.0002	0.0035	0.0033	0	0.0021	7.771e-05	0.0040	0	0.0002	4.518e-06	8.357e-05	0.0005	0.0038	0.0053	0.0031	0.0045	0.0558	0.0035	0.0034	0.0505	0.0484	0.0002	0	0.0081	0.0058	0.0558	0.0010	0	0.0010	0.0052	0.0111	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	19368.9	262	chr13	25097016	.	AGACG	A	19368.9	.	AC=4;AF=0.105;AN=38;BaseQRankSum=1.12;DP=4461;ExcessHet=25.4433;FS=7.09;InbreedingCoeff=-0.7273;MLEAC=4;MLEAF=0.105;MQ=59.31;MQRankSum=-9.731;QD=4.48;ReadPosRankSum=-0.48;SOR=1.344	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:249,37:309:99:.:.:809,0,10341:.	15	0	4	0
chr13	25097030	25097030	C	0	exonic	PABPC3	.	.	.	.	432	843	240	1	6	248	0.125519	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	15963.1	259	chr13	25097030	.	C	*	15963.1	.	AC=4;AF=0.105;AN=38;BaseQRankSum=1.76;DP=4427;ExcessHet=25.4433;FS=7.047;InbreedingCoeff=-0.7273;MLEAC=4;MLEAF=0.105;MQ=59.21;MQRankSum=-10.43;QD=3.73;ReadPosRankSum=-0.576;SOR=1.327	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:229,37:288:99:.:.:908,0,9475:.	15	0	4	0
chr13	25170010	25170010	G	A	exonic	AMER2	.	nonsynonymous SNV	AMER2:NM_152704:exon1:c.C1610T:p.S537L,AMER2:NM_199138:exon3:c.C1253T:p.S418L	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	.	0.0054	0.00479233	0.0017	0.0172	0.0014	0	0	0.0001	0	6.115e-05	0.0015459	239	154602	rs150740704	0.0005	0.0005	0.0006	0.0005	0.0168	0.0005	0.0005	0.0157	0.0152	0.0168	0.0009	0.0008	0	0	0.0012	7.555e-05	0.0012	6.958e-05	0.0050	0.0050	0.0052	0.0048	0.0171	0.0047	0.0046	0.0161	0.0157	0.0171	0	0.0020	0.0012	0	0	0.0068	2.94e-05	0.0033	0	0.379	0.12428	T	0.344	0.19246	T	0.001	0.07471	B	0.001	0.04355	B	0.892734	0.08676	U	0.945716	1	0.08975	N	0.49	0.13296	N	2.16	0.19166	T	-1.21	0.30762	N	0.086	0.11912	-0.9970	0.30755	T	0.018	0.07329	T	10	0.0028262734	0.00045	T	.	.	.	0.020	0.03691	.	.	0.0297737177859	0.01360	0.09321118848076103	0.09253	.	.	0.240298211575	0.02817	T	0.008986	0.08212	T	-0.697697	0.00038	T	-0.76069	0.03087	T	0.00296394968205108	0.00031	T	0.40416	0.10358	T	0.024210764	0.01230	0.04920989	0.07471	0.024210764	0.01230	0.04920989	0.07471	-4.013	0.25789	T	.	.	0.081	0.10159	B	.;.	.;.	1.693393	0.21574	15.26	0.89736869443362988	0.19056	0.20115	0.20920	N	AEFDBI	0.154849	0.27994	N	-1.07542531643717	0.07099	0.3287482	-1.05846492447565	0.08531	0.4199177	0.998485712780146	0.37052	0.764865	0.99124	0	0.59043	0.45803	0	0.731555	0.93304	0	0.63947	0.58350	0	.	.	4.71	2.97	0.33479	1.683000	0.37256	1.826000	0.29078	-0.188000	0.09543	0.008000	0.17931	0.009000	0.19889	0.023000	0.12082	0.1736:0.0:0.8264:0.0	9.466	0.37978	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	0.005035	0.030303	0.004076	0.008772	0.000000	0.000000	0.006098	0.000000	0.02632	1488.33	35	chr13	25170010	.	G	A	1488.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.699;DP=768;ExcessHet=0;FS=1.399;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.54;ReadPosRankSum=-0.95;SOR=0.572	GT:AD:DP:GQ:PL	0/1:67,62:129:99:1502,0,1724	18	0	1	0
chr13	25170698	25170698	-	CTCGGGGGGTGCCCGGGGCTT	exonic	AMER2	.	nonframeshift insertion	AMER2:NM_152704:exon1:c.921_922insAAGCCCCGGGCACCCCCCGAG:p.E307_P308insKPRAPPE	.	420	1100	2	0	0	2	0.000908265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0091853	0.0039	0.0260	0	0.0174	0	0.0004	0	0.0038	0.0002689	7	26028	rs531573239	0.0012	0.0012	0.0011	0.0013	0.0184	0.0012	0.0012	0.0172	0.0167	0.0165	0.0008	0.0007	0.0184	0	0.0013	0.0001	0.0025	0.0046	0.0062	0.0062	0.0062	0.0061	0.0188	0.0058	0.0057	0.0177	0.0172	0.0188	0	0.0023	0.0014	0.0149	0	0.0069	8.831e-05	0.0047	0.0050	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	795.29	35	chr13	25170698	.	G	GCTCGGGGGGTGCCCGGGGCTT	795.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.73;DP=684;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=-1.227;SOR=0.793	GT:AD:DP:GQ:PL	0/1:29,22:51:99:809,0,1133	18	0	1	0
chr13	32332271	32332271	G	T	splicing	BRCA2	NM_000059:exon10:c.794-1G>T	.	.	Fanconi anemia, complementation group D1, Autosomal recessive;Wilms tumor, Autosomal dominant, Somatic mutation	.	.	.	.	.	.	.	1.0000	0.862	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158365	0.70049	D	-0.0102956	0.69666	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.153784	0.86327	28.9	0.99108041089315846	0.52648	0.96497	0.69434	D	AEFBI	.	.	.	0.962394594267438	0.94464	12.77881	0.771903503048116	0.87780	9.342336	0.999999672958438	0.74766	0.106106	0.02776	0	0.104858	0.03167	0	0.121303	0.03266	0	0.109871	0.03346	0	0.971184	0.73442	5.54	5.54	0.82907	4.009000	0.56822	11.546000	0.93156	0.656000	0.54149	1.000000	0.71638	1.000000	0.68203	0.606000	0.31539	0.0:0.0:1.0:0.0	14.974	0.70910	776	0.48302	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1272.33	38	chr13	32332271	.	G	T	1272.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.109;DP=839;ExcessHet=0;FS=2.176;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.15;ReadPosRankSum=1.59;SOR=0.888	GT:AD:DP:GQ:PL	0/1:84,55:139:99:1286,0,2231	18	0	1	0
chr13	37582422	37582422	C	T	exonic	POSTN	.	nonsynonymous SNV	POSTN:NM_001135934:exon10:c.G1336A:p.G446R,POSTN:NM_001135935:exon10:c.G1336A:p.G446R,POSTN:NM_001135936:exon10:c.G1336A:p.G446R,POSTN:NM_001286665:exon10:c.G1336A:p.G446R,POSTN:NM_001286666:exon10:c.G1336A:p.G446R,POSTN:NM_001286667:exon10:c.G1336A:p.G446R,POSTN:NM_001330517:exon10:c.G1336A:p.G446R,POSTN:NM_006475:exon10:c.G1336A:p.G446R	.	438	1083	1	0	0	1	0.000461467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.822	0.149581397676	.	.	8.243e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs774501312	1.232e-05	1.231e-05	1.225e-05	1.238e-05	1.529e-05	7.7e-06	6.35e-06	9.31e-06	7.61e-06	0	0	3.828e-05	0	0	0	1.529e-05	0	0	1.973e-05	1.971e-05	2.57e-05	1.346e-05	0.0002	5.24e-06	2.46e-06	4.88e-06	1.83e-06	0	0	0	0	0.0002	0	0	2.94e-05	0	0	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.955	0.85029	M	-2.74	0.90735	D	-4.93	0.81755	D	0.882	0.88027	0.821	0.94666	D	0.872	0.95745	D	10	0.8810259	0.87413	D	0.149581	0.83137	D	0.822	0.94315	0.685	0.82271	0.965211914288	0.96484	0.8951606464156627	0.89487	0.496083062219	0.48129	0.777646541595	0.78573	T	0.640	0.96719	D	0.467756	0.93246	D	0.434123	0.93161	D	0.997036099433899	0.90620	D	0.967303	0.90829	D	0.7929876	0.83461	0.753552	0.85434	0.7929876	0.83462	0.753552	0.85435	-9.972	0.73966	D	.	.	0.358	0.64192	A	.;.;.;.;.;.	.;.;.;.;.;.	5.241246	0.87993	29.4	0.99942715412565564	0.99848	0.98215	0.80611	D	AEFBI	0.960035	0.98066	D	0.93066801957506	0.93180	11.87168	0.910610596790493	0.96019	14.21321	0.999999999861656	0.74766	0.638212	0.43195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.668105	0.65232	0	.	.	6.07	6.07	0.98675	7.508000	0.80566	7.697000	0.66086	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	20.659	0.99629	479	0.77495	.;FAS1 domain|FAS1 domain|FAS1 domain;.;FAS1 domain|FAS1 domain|FAS1 domain;.;FAS1 domain|FAS1 domain|FAS1 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1647.33	34	chr13	37582422	.	C	T	1647.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.05;DP=755;ExcessHet=0;FS=8.237;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.39;ReadPosRankSum=0.997;SOR=1.106	GT:AD:DP:GQ:PL	0/1:60,63:123:99:1661,0,1366	18	0	1	0
chr13	38859428	38859428	G	C	exonic	FREM2	.	nonsynonymous SNV	FREM2:NM_207361:exon14:c.G7357C:p.V2453L	Fraser syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.0142809241756	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.426e-06	0.0001	5.454e-06	1.377e-06	4.505e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.505e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.016	0.60972	D	.	.	.	.	.	.	0.000203	0.47681	N	0.139815	0.999998	0.58761	D	.	.	.	1.88	0.23884	T	-1.95	0.45222	N	0.416	0.45615	-0.9811	0.34748	T	0.091	0.34847	T	10	0.29562914	0.47131	T	0.014281	0.34290	T	0.156	0.40720	0.299	0.26522	0.426670027402	0.42282	0.510707213402808	0.50992	0.115962092506	0.13078	0.591294765472	0.51677	T	.	.	.	-0.139472	0.29976	T	-0.438119	0.29019	T	0.881288886070251	0.53134	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.362	0.57361	A	.	.	2.487454	0.32091	18.94	0.98227814918200052	0.39360	0.97595	0.75784	D	AEFBI	0.688535	0.64950	D	0.180157683667661	0.50246	3.21658	0.185006421886382	0.49024	3.110789	0.791277744604143	0.24019	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.86	4.14	0.47821	5.015000	0.63798	5.657000	0.49204	-0.816000	0.03012	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.063:0.1148:0.7031:0.1191	8.428	0.31901	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	1334.06	229	chr13	38859428	.	G	C	1334.06	.	AC=12;AF=0.333;AN=36;BaseQRankSum=-3.406;DP=2557;ExcessHet=11.1788;FS=276.801;InbreedingCoeff=-0.4865;MLEAC=12;MLEAF=0.333;MQ=60;MQRankSum=0;QD=0.79;ReadPosRankSum=1.46;SOR=13.172	GT:AD:DP:GQ:PL	0/1:90,43:138:99:124,0,1814	6	0	12	1
chr13	42303097	42303097	G	C	exonic	AKAP11	.	nonsynonymous SNV	AKAP11:NM_016248:exon8:c.G4351C:p.V1451L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00348779331928	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0058	0.0001	0.0001	0.0004	0.0001	0.0001	0.0001	0.0001	0.0001	2.239e-05	0.0002	0.0001	0	0.0004	0.0002	0.0001	5.842e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.732	0.03787	T	0.652	0.06690	T	0.0	0.02946	B	0.0	0.01387	B	0.384222	0.04439	N	1.329080	1	0.08975	N	-0.695	0.01866	N	1.03	0.40469	T	0.12	0.05604	N	0.01	0.00095	-1.0487	0.14761	T	0.025	0.10553	T	10	0.03053692	0.01181	T	0.003488	0.07908	T	0.040	0.10527	0.282	0.23801	0.174091166621	0.17034	0.08873411500846382	0.08806	0.0437477432083	0.04714	0.247362196445	0.03495	T	0.00156	0.01004	T	-0.357409	0.04279	T	-0.75117	0.03440	T	0.0190869918422606	0.00616	T	0.254375	0.03921	T	0.018132178	0.00335	0.025108913	0.00546	0.018132178	0.00334	0.025108913	0.00545	-2.626	0.06703	T	.	.	0.106	0.19839	B	.	.	-0.851205	0.01010	0.042	0.27875280092314592	0.01405	0.12762	0.17464	N	AEFBCI	0.031390	0.03350	N	-1.67084211627419	0.00950	0.04116467	-1.65714055191059	0.01339	0.06045885	0.999931029354219	0.46732	0.706548	0.73137	0	0.702456	0.74545	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.98	-6.75	0.01575	0.231000	0.17651	-0.238000	0.10617	-0.111000	0.15049	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.2747:0.1624:0.2842:0.2787	0.459	0.00478	675	0.60470	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4167	5180.53	132	chr13	42303097	.	G	C	5180.53	.	AC=15;AF=0.417;AN=36;BaseQRankSum=-4.864;DP=2672;ExcessHet=20.8569;FS=361.789;InbreedingCoeff=-0.6834;MLEAC=15;MLEAF=0.417;MQ=60;MQRankSum=0;QD=2.47;ReadPosRankSum=0.708;SOR=13.056	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:104,49:153:99:.:.:376,0,2688:.	3	0	15	1
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	.	.	.	.	.	.	.	.	0.2105	487.46	49	chr13	48459808	.	T	C	487.46	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-4.073;DP=1639;ExcessHet=4.0268;FS=118.507;InbreedingCoeff=-0.2619;MLEAC=8;MLEAF=0.211;MQ=60;MQRankSum=0;QD=0.51;ReadPosRankSum=0.426;SOR=11.168	GT:AD:DP:GQ:PL	0/1:120,35:155:59:59,0,2378	11	0	8	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	.	.	.	.	.	.	.	.	0.02632	1324.33	50	chr13	52135824	.	T	A	1324.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.369;DP=866;ExcessHet=0;FS=0.712;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.15;ReadPosRankSum=-1.791;SOR=0.735	GT:AD:DP:GQ:PL	0/1:55,54:109:99:1338,0,1363	18	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	.	.	.	.	.	.	.	.	0.3421	830.1	154	chr13	69882456	.	G	A	830.1	.	AC=13;AF=0.342;AN=38;BaseQRankSum=-2.494;DP=2397;ExcessHet=13.8672;FS=177.744;InbreedingCoeff=-0.5332;MLEAC=13;MLEAF=0.342;MQ=60;MQRankSum=0;QD=0.54;ReadPosRankSum=0.578;SOR=13.216	GT:AD:DP:GQ:PL	0/1:74,40:122:99:127,0,916	6	0	13	0
chr13	72753782	72753783	AT	-	exonic	BORA	.	stopgain	BORA:NM_001366664:exon9:c.1422_1423del:p.C475*,BORA:NM_001286747:exon10:c.1365_1366del:p.C456*,BORA:NM_001286746:exon11:c.1575_1576del:p.C526*,BORA:NM_024808:exon11:c.1575_1576del:p.C526*	.	442	1079	1	0	0	1	0.000463177	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0002	0.0003	0.0001	0	0.0001	0	0.0002	0.00011	17	154602	rs774725351	8.829e-05	8.824e-05	7.9e-05	9.768e-05	0.0004	7.559e-05	7.105e-05	0.0003	0.0002	8.969e-05	0.0004	0	0.0002	1.872e-05	0.0003	6.388e-05	0.0002	0.0002	0.0002	0.0002	0.0002	0.0003	0.0013	0.0002	0.0001	0.0009	0.0007	7.227e-05	0	0.0013	0	0	0	0.0034	0.0001	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2205.29	35	chr13	72753781	.	CAT	C	2205.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.09;DP=726;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=22.28;ReadPosRankSum=0.181;SOR=0.679	GT:AD:DP:GQ:PL	0/1:42,57:99:99:2219,0,1592	18	0	1	0
chr13	94452649	94452649	C	T	exonic	DCT	.	nonsynonymous SNV	DCT:NM_001129889:exon7:c.G1193A:p.R398H	.	1	224	1	0	0	1	0.00222717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.275	0.0837167963554	9.7e-05	0.000199681	0.0001	0	0.0004	0	0	8.031e-05	0.0024	0.0003	0.00011	17	154602	rs369353671	7.577e-05	8.27e-05	7.956e-05	7.26e-05	0.0003	5.805e-05	5.191e-05	8.038e-05	5.682e-05	0.0001	0.0002	0	0	3.848e-05	0.0003	5.551e-05	0.0003	9.333e-05	9.209e-05	9.193e-05	9.009e-05	9.418e-05	0.0003	5.534e-05	4.369e-05	8.881e-05	5.389e-05	4.824e-05	0	0.0003	0	0.0002	0	0	7.356e-05	0.0005	0.0002	0.124	0.27426	T	0.111	0.37173	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-5.41	0.99076	D	-0.05	0.07736	N	0.133	0.12913	0.629	0.92283	D	0.880	0.96018	D	8	0.050872803	0.04884	T	0.083717	0.74175	D	0.275	0.59130	.	.	0.28798054836	0.28402	0.5725144115941314	0.57179	0.0431920906828	0.04656	0.315429389477	0.12728	T	.	.	.	-0.200801	0.20688	T	-0.256913	0.49131	T	0.00853839359526203	0.00104	T	0.227477	0.03026	T	.	.	.	.	.	.	.	.	-4.602	0.32197	T	.	.	0.116	0.23360	B	.	.	0.424053	0.07949	4.656	0.73547302444682627	0.10367	0.00409	0.02034	N	AEFI	0.023994	0.01418	N	-1.10754162270167	0.06507	0.2997814	-1.19195227816223	0.06043	0.2897228	0.0115309883666715	0.12198	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.51	1.31	0.20837	-0.049000	0.11879	1.061000	0.23721	-0.946000	0.02057	0.001000	0.13787	0.004000	0.18990	0.002000	0.04165	0.7191:0.2809:0.0:0.0	5.735	0.17331	720	0.55521	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	650.33	39	chr13	94452649	.	C	T	650.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.524;DP=727;ExcessHet=0;FS=3.252;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.91;ReadPosRankSum=0.592;SOR=0.401	GT:AD:DP:GQ:PL	0/1:42,31:73:99:664,0,1008	18	0	1	0
chr13	98848625	98848625	T	C	exonic	DOCK9	.	nonsynonymous SNV	DOCK9:NM_001366677:exon37:c.A4064G:p.Q1355R,DOCK9:NM_001366679:exon37:c.A4028G:p.Q1343R,DOCK9:NM_001366680:exon37:c.A4028G:p.Q1343R,DOCK9:NM_001366681:exon37:c.A4028G:p.Q1343R,DOCK9:NM_001366682:exon37:c.A4028G:p.Q1343R,DOCK9:NM_001366683:exon37:c.A4028G:p.Q1343R,DOCK9:NM_001366684:exon37:c.A4028G:p.Q1343R	.	414	1093	12	3	0	18	0.00816697	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	.	0.0011	0.00678914	0.0045	0.0001	0.0010	0	0	0.0017	0.0083	0.0268	0.0035187	544	154602	rs147025665	0.0024	0.0024	0.0018	0.0030	0.0200	0.0023	0.0023	0.0193	0.0189	0.0001	0.0011	3.832e-05	0	0.0001	0.0043	0.0013	0.0028	0.0200	0.0016	0.0016	0.0014	0.0019	0.0236	0.0015	0.0014	0.0201	0.0188	0.0002	0	0.0010	0.0003	0	9.422e-05	0.0034	0.0015	0	0.0236	0.071	0.55530	T	0.13	0.92824	T	0.758	0.43456	P	0.669	0.53077	P	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	2.03	0.45636	T	-1.55	0.40274	N	0.914	0.91621	-0.4751	0.69545	T	0.341	0.70672	T	10	0.009998351	0.00224	T	.	.	.	0.401	0.71479	.	.	0.698603802485	0.69600	0.5804109981760815	0.57970	1.05946372155	0.76434	0.787563562393	0.80072	T	0.047416	0.27718	T	-0.0862132	0.38700	T	0.120304	0.78256	D	0.0353900939445831	0.02875	T	0.944006	0.78847	D	.	.	.	.	.	.	.	.	-12.444	0.86946	D	.	.	0.386	0.64265	A	.;.;.;.	.;.;.;.	4.086269	0.60819	24.3	0.99861732954655225	0.94002	0.98964	0.89257	D	AEFBI	0.891832	0.82818	D	0.473368022672779	0.65540	4.835405	0.553928948968649	0.71672	5.690526	0.999999999964978	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.74	5.74	0.90070	7.639000	0.82491	7.901000	0.73554	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.055	0.80592	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	0.003021	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.011364	0.02632	552.33	38	chr13	98848625	.	T	C	552.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.767;DP=688;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.05;ReadPosRankSum=1.1;SOR=0.641	GT:AD:DP:GQ:PL	0/1:35,26:61:99:566,0,972	18	0	1	0
chr13	102737670	102737670	C	G	exonic	CCDC168	.	nonsynonymous SNV	CCDC168:NM_001146197:exon4:c.G13027C:p.V4343L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.296e-05	0.0009	1.28e-05	1.313e-05	3.19e-05	8.1e-06	6.68e-06	9.68e-06	7.91e-06	3.19e-05	0	0	0	0	0	1.589e-05	0	0	6.741e-06	1.989e-05	0	1.384e-05	1.492e-05	0	0	.	.	0	0	0	0	0	0	0	1.492e-05	0	0	.	.	.	0.044	0.49663	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.16028	.	.	.	.	.	.	.	0.08621222	0.14631	T	.	.	.	.	.	.	.	0.0806252709748	0.07271	0.08298472189106709	0.08233	.	.	0.344727694988	0.17142	T	.	.	.	-0.118802	0.33320	T	-0.408427	0.32407	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.211	0.43882	B	.	.	-0.018962	0.04151	0.996	0.36670154075650313	0.02372	0.03259	0.08291	N	AEFBI	.	.	.	.	.	.	.	.	.	0.929394545130418	0.26967	0.06567	0.01388	0	0.059962	0.00310	0	0.063197	0.01477	0	0.075334	0.01956	0	0.0516762	0.10602	2.37	-0.837	0.10221	0.258000	0.18156	-2.744000	0.03406	0.581000	0.30040	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.4159:0.0:0.5841	5.246	0.14815	952	0.10565	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2667	1262.59	138	chr13	102737670	.	C	G	1262.59	.	AC=8;AF=0.267;AN=30;BaseQRankSum=-5.507;DP=3002;ExcessHet=4.0268;FS=282.115;InbreedingCoeff=-0.3588;MLEAC=9;MLEAF=0.3;MQ=59.98;MQRankSum=0;QD=0.86;ReadPosRankSum=2.02;SOR=12.288	GT:AD:DP:GQ:PL	0/1:132,38:170:99:105,0,3496	7	0	8	4
chr13	102738219	102738219	C	G	exonic	CCDC168	.	nonsynonymous SNV	CCDC168:NM_001146197:exon4:c.G12478C:p.V4160L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.167e-05	0.0022	6.326e-05	3.979e-05	6.248e-05	4.177e-05	3.835e-05	5.038e-05	4.595e-05	0	2.807e-05	0	0	0	0	6.248e-05	3.499e-05	2.541e-05	1.334e-05	2.64e-05	1.303e-05	1.368e-05	1.486e-05	2.22e-06	8.3e-07	.	.	0	0	0	0	0	9.686e-05	0	1.486e-05	0	0	.	.	.	0.068	0.44106	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	0.19459	.	.	.	.	.	.	.	0.09865704	0.17852	T	.	.	.	.	.	.	.	0.0806252709748	0.07271	0.022759760475440007	0.02227	.	.	0.381038725376	0.22403	T	.	.	.	-0.129836	0.31521	T	-0.424277	0.30586	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.349	0.56507	A	.	.	0.179806	0.05674	2.123	0.42346026630768363	0.03115	0.07449	0.13466	N	AEFBI	.	.	.	.	.	.	.	.	.	0.921212253802681	0.26663	0.06567	0.01388	0	0.059962	0.00310	0	0.063197	0.01477	0	0.075334	0.01956	0	0.0512898	0.10407	3.08	0.322	0.15131	1.882000	0.39283	-0.398000	0.09429	0.454000	0.21428	0.029000	0.20367	0.000000	0.08366	0.017000	0.10941	0.0:0.5804:0.0:0.4196	5.169	0.14429	951	0.11083	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3438	1600.25	68	chr13	102738219	.	C	G	1600.25	.	AC=11;AF=0.344;AN=32;BaseQRankSum=-5.612;DP=3603;ExcessHet=8.9063;FS=275.066;InbreedingCoeff=-0.4786;MLEAC=12;MLEAF=0.375;MQ=60;MQRankSum=0;QD=0.74;ReadPosRankSum=2.08;SOR=13.102	GT:AD:DP:GQ:PL	0/1:125,42:172:40:40,0,3046	5	0	11	3
chr13	113795181	113795181	G	C	exonic	TMEM255B	.	nonsynonymous SNV	TMEM255B:NM_001348663:exon4:c.G286C:p.V96L,TMEM255B:NM_182614:exon4:c.G286C:p.V96L	.	436	1000	81	4	1	90	0.0426041	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.324	.	0.0037	0.00898562	0.0094	0.0010	0.0027	0.0001	0.0009	0.0067	0.0167	0.0377	0.0083569	1292	154602	rs150323609	0.0062	0.0062	0.0050	0.0073	0.0363	0.0060	0.0060	0.0352	0.0348	0.0009	0.0025	0.0069	0.0001	0.0007	0.0278	0.0044	0.0073	0.0363	0.0049	0.0049	0.0043	0.0056	0.0354	0.0046	0.0045	0.0311	0.0294	0.0009	0.0208	0.0030	0.0066	0.0002	0.0018	0.0170	0.0061	0.0066	0.0354	0.006	0.61437	D	0.017	0.65728	D	0.975	0.58077	D	0.584	0.50293	P	.	.	.	.	0.999994	0.58761	D	2.87	0.83286	M	0.43	0.56772	T	-2.34	0.51811	N	0.502	0.53532	-0.5375	0.67258	T	0.182	0.52934	T	9	0.0077860355	0.00177	T	.	.	.	0.324	0.64624	0.553	0.66995	0.385578977469	0.38175	0.7663973015602885	0.76588	0.250000845388	0.27578	0.656492352486	0.60908	T	0.237301	0.60496	T	-0.212264	0.19062	T	-0.0512197	0.66939	D	0.0395209149209923	0.03604	T	0.838216	0.51127	T	0.31684133	0.54372	0.35385677	0.60940	0.31684133	0.54372	0.35385677	0.60939	-9.994	0.73876	D	.	.	0.384	0.61725	A	.;.	.;.	2.309652	0.29567	18.16	0.99604973238387107	0.74456	0.92132	0.55016	D	AEFGBI	0.571454	0.57543	D	0.357397953511674	0.59132	4.090088	0.278757387613594	0.54302	3.595487	0.999999996836986	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.06	4.06	0.46572	5.500000	0.66660	5.156000	0.47774	0.647000	0.52776	1.000000	0.71638	1.000000	0.68203	0.026000	0.12556	0.0:0.0:1.0:0.0	15.030	0.71357	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	0.022681	0.015152	0.014946	0.014620	0.000000	0.025862	0.021472	0.064394	0.05263	3265.83	34	chr13	113795181	.	G	C	3265.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.33;DP=963;ExcessHet=0.119;FS=4.73;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.75;ReadPosRankSum=0.283;SOR=0.957	GT:AD:DP:GQ:PL	0/1:59,69:128:99:1712,0,1378	17	0	2	0
chr14	21001140	21001140	G	A	exonic	SLC39A2	.	nonsynonymous SNV	SLC39A2:NM_014579:exon4:c.G491A:p.R164Q	.	428	1093	1	0	0	1	0.000457247	.	.	.	3915013	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.412	0.0252316148362	.	0.000199681	6.597e-05	0	0	0.0006	0	3e-05	0	6.079e-05	5.82e-05	9	154602	rs138590006	4.72e-05	4.72e-05	5.989e-05	3.438e-05	0.0013	3.794e-05	3.476e-05	0.0010	0.0009	0	0	0	0.0013	0	0.0005	1.259e-05	1.656e-05	0	4.598e-05	4.594e-05	6.427e-05	2.687e-05	0.0008	2.109e-05	1.526e-05	0.0003	0.0002	0	0	0	0	0.0008	0	0	4.411e-05	0	0	0.002	0.72154	D	0.009	0.66756	D	1.0	0.90584	D	0.958	0.70027	D	0.000022	0.55875	D	0.118607	0.999983	0.81001	D	3.34	0.90961	M	0.66	0.52416	T	-3.33	0.66206	D	0.529	0.55799	-0.3875	0.72420	T	0.323	0.69195	T	10	0.55432785	0.64431	D	0.025232	0.48206	D	0.412	0.72328	.	.	0.70605563185	0.70349	0.5819555160883828	0.58124	0.264892400789	0.29045	0.412412524223	0.26791	T	0.268543	0.64068	T	-0.0545458	0.43754	T	0.00388203	0.70587	D	0.93366014957428	0.60056	D	0.854814	0.54193	D	0.74228644	0.80423	0.62717974	0.78263	0.74228644	0.80424	0.62717974	0.78263	-4.088	0.25113	T	.	.	0.109	0.20896	B	.	.	4.710909	0.75672	26.4	0.99956371642863195	0.99975	0.98068	0.79327	D	AEFBI	0.850315	0.76714	D	0.819346170901503	0.87299	9.170579	0.764388265028395	0.87228	9.150319	0.999999999998155	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.7	5.7	0.88690	9.091000	0.93500	8.551000	0.77529	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.191000	0.21631	0.0:0.0:1.0:0.0	17.329	0.87144	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	.	.	.	.	.	.	.	.	0.02632	2507.33	37	chr14	21001140	.	G	A	2507.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.46;DP=860;ExcessHet=0;FS=2.798;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.01;ReadPosRankSum=-0.922;SOR=0.494	GT:AD:DP:GQ:PL	0/1:79,88:167:99:2521,0,1846	18	0	1	0
chr14	21343144	21343144	G	A	exonic	RPGRIP1	.	nonsynonymous SNV	RPGRIP1:NM_001377951:exon8:c.G931A:p.D311N,RPGRIP1:NM_001377523:exon9:c.G1426A:p.D476N,RPGRIP1:NM_001377950:exon9:c.G1426A:p.D476N,RPGRIP1:NM_001377949:exon10:c.G1534A:p.D512N,RPGRIP1:NM_001377948:exon12:c.G2374A:p.D792N,RPGRIP1:NM_020366:exon22:c.G3448A:p.D1150N	Cone-rod dystrophy 13;Leber congenital amaurosis 6	.	.	.	.	.	.	.	.	.	.	936548	Leber_congenital_amaurosis_6|Cone-rod_dystrophy_13|Inborn_genetic_diseases	MONDO:MONDO:0013446,MedGen:C1854260,OMIM:613826,Orphanet:65|MONDO:MONDO:0011987,MedGen:C2750720,OMIM:608194,Orphanet:1872|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.415	0.067330439918	.	.	1.656e-05	0	8.642e-05	0	0	1.498e-05	0	0	1.29e-05	2	154602	rs144704092	2.669e-05	2.668e-05	3.404e-05	1.926e-05	0.0002	1.998e-05	1.754e-05	2.286e-05	2.023e-05	2.987e-05	0	0	0	0	0.0002	3.148e-05	3.313e-05	0	2.627e-05	2.625e-05	3.856e-05	1.343e-05	6.543e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	6.543e-05	0	0	0	0	4.41e-05	0	0	0.285	0.16520	T	0.006	0.72224	D	1.0	0.90584	D	0.998	0.92359	D	0.000002	0.62929	D	0.056668	0.999995	0.18878	N	1.78	0.46185	L	-1.66	0.82715	D	-2.59	0.55821	D	0.307	0.34659	-0.1827	0.78113	T	0.645	0.87618	D	10	0.36120522	0.52746	T	0.06733	0.70135	D	0.415	0.72555	.	.	0.879820416631	0.87864	0.3533098116720148	0.35244	0.0979035133984	0.11043	0.460170507431	0.33333	T	0.029367	0.40424	T	-0.158499	0.26992	T	-0.382584	0.35419	T	0.664957702159882	0.39113	D	0.747925	0.36851	T	0.3029188	0.53165	0.21792328	0.46476	0.3029188	0.53165	0.21792328	0.46475	-5.196	0.38901	T	0.6706834923487011	0.74558	0.171	0.44758	B	.;.;.;.;.	.;.;.;.;.	2.937103	0.39040	20.9	0.99621329675856296	0.75413	0.69642	0.34269	D	AEFDGBI	0.394881	0.47196	N	0.208467109694923	0.51608	3.340773	0.131061340383183	0.46146	2.865433	0.999999854819966	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.06	4.17	0.48303	3.010000	0.49246	5.542000	0.48872	-0.162000	0.11565	0.569000	0.27497	1.000000	0.68203	0.954000	0.50415	0.0872:0.0:0.9128:0.0	11.083	0.47291	946	0.12043	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1221.33	34	chr14	21343144	.	G	A	1221.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.701;DP=729;ExcessHet=0;FS=1.664;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.72;ReadPosRankSum=0.392;SOR=0.965	GT:AD:DP:GQ:PL	0/1:48,48:96:99:1235,0,1172	18	0	1	0
chr14	23080669	23080669	-	TCCTCC	exonic	ACIN1	.	nonframeshift insertion	ACIN1:NM_001164815:exon5:c.719_720insGGAGGA:p.E241_D242insEE,ACIN1:NM_001164814:exon6:c.839_840insGGAGGA:p.E281_D282insEE,ACIN1:NM_014977:exon6:c.839_840insGGAGGA:p.E281_D282insEE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs761222601	4.789e-06	4.788e-06	4.084e-06	5.501e-06	5.797e-05	1.99e-06	1.28e-06	2.194e-05	1.43e-05	0	0	0	0	0	0	8.994e-07	1.656e-05	5.797e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	5308.63	39	chr14	23080669	.	T	TTCCTCC	5308.63	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.22;DP=1017;ExcessHet=0.7564;FS=0;InbreedingCoeff=-0.1176;MLEAC=1;MLEAF=0.026;MQ=59.98;MQRankSum=0;QD=15.43;ReadPosRankSum=0.446;SOR=0.705	GT:AD:DP:GQ:PL	0/1:51,35:86:99:1312,0,1962	18	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	0.02632	1592.33	35	chr14	32600736	.	G	A	1592.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.747;DP=726;ExcessHet=0;FS=5.324;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.76;ReadPosRankSum=-0.687;SOR=0.33	GT:AD:DP:GQ:PL	0/1:37,58:95:99:1606,0,914	18	0	1	0
chr14	55154745	55154745	T	A	exonic	DLGAP5	.	nonsynonymous SNV	DLGAP5:NM_001146015:exon15:c.A1935T:p.K645N,DLGAP5:NM_014750:exon15:c.A1935T:p.K645N	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.00740455765775	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.024	0.56640	D	0.842	0.46562	P	0.326	0.41929	B	0.892903	0.07307	N	1.056020	1	0.08975	N	2.34	0.67151	M	2.6	0.13204	T	-1.39	0.34397	N	0.23	0.25867	-1.0006	0.29746	T	0.029	0.12541	T	10	0.109202236	0.20361	T	0.007405	0.19630	T	0.105	0.29889	0.129	0.03412	0.137902524267	0.13322	0.1472618928237294	0.14648	0.136271015109	0.15368	0.314443320036	0.12578	T	0.06811	0.33375	T	-0.32094	0.06821	T	-0.698784	0.05892	T	0.532162189483643	0.33814	D	0.749425	0.37065	T	0.093372524	0.21929	0.08842337	0.20615	0.093372524	0.21929	0.08842337	0.20615	-4.791	0.34487	T	.	.	0.281	0.51419	B	.;.	.;.	2.651274	0.34524	19.65	0.99748022673622772	0.84002	0.06530	0.12542	N	AEFBI	0.071964	0.14347	N	-0.390112413754402	0.25820	1.404498	-0.488605575205645	0.22467	1.220419	0.222667644434863	0.18374	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	4.2	1.71	0.23429	1.256000	0.32524	2.023000	0.30218	0.665000	0.62972	0.030000	0.20431	0.906000	0.28050	0.972000	0.54974	0.3383:0.0:0.0:0.6617	7.688	0.27716	838	0.37812	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	803.33	33	chr14	55154745	.	T	A	803.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.492;DP=680;ExcessHet=0;FS=4.314;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.74;ReadPosRankSum=-0.063;SOR=0.25	GT:AD:DP:GQ:PL	0/1:19,29:48:99:817,0,526	18	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	.	.	.	.	.	.	.	.	0.4211	2170.86	43	chr14	58213644	.	T	C	2170.86	.	AC=16;AF=0.421;AN=38;BaseQRankSum=-2.448;DP=1186;ExcessHet=25.4433;FS=260.724;InbreedingCoeff=-0.7123;MLEAC=16;MLEAF=0.421;MQ=60;MQRankSum=0;QD=2.13;ReadPosRankSum=1.37;SOR=11.67	GT:AD:DP:GQ:PL	0/1:44,25:69:99:312,0,950	3	0	16	0
chr14	64158707	64158707	T	C	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_015180:exon86:c.T15875C:p.M5292T,SYNE2:NM_182914:exon86:c.T15875C:p.M5292T	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.00538161103081	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1245310548	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.57e-06	6.566e-06	0	1.345e-05	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.099	0.45039	T	0.026	0.60972	D	0.013	0.16609	B	0.009	0.14300	B	0.041119	0.23984	N	0.401918	0.999988	0.54805	D	1.655	0.42436	L	1.39	0.33842	T	-2.65	0.59710	D	0.474	0.55280	-1.0841	0.06572	T	0.073	0.29675	T	10	0.19718808	0.35641	T	0.005382	0.13801	T	0.143	0.38195	0.536	0.64585	0.319402600006	0.31557	0.3253330187294607	0.32446	0.0539322971594	0.05956	0.529864430428	0.43015	T	0.035396	0.50140	T	-0.123387	0.32572	T	-0.415013	0.31648	T	0.172842237501572	0.18771	T	0.611639	0.23235	T	0.08136348	0.18690	0.15216553	0.35812	0.08136348	0.18690	0.15216553	0.35811	-3.679	0.21014	T	.	.	0.191	0.41000	B	.;.;.;.;.	.;.;.;.;.	1.354212	0.17625	13.27	0.893201424526746	0.18696	0.58238	0.30589	D	AEFGBI	0.052091	0.09265	N	-0.429603788888434	0.24437	1.31946	-0.336983711819935	0.26915	1.489921	0.0805734006329366	0.15850	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.645948	0.59608	0	.	.	5.77	3.35	0.37468	0.797000	0.26660	0.426000	0.18273	0.661000	0.55757	1.000000	0.71638	0.995000	0.32472	1.000000	0.97212	0.0:0.0746:0.1466:0.7788	7.200	0.25051	540	0.73006	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4412	2933.03	148	chr14	64158707	.	T	C	2933.03	.	AC=15;AF=0.441;AN=34;BaseQRankSum=-3.339;DP=2339;ExcessHet=20.8569;FS=186.487;InbreedingCoeff=-0.7246;MLEAC=16;MLEAF=0.471;MQ=60;MQRankSum=0;QD=1.57;ReadPosRankSum=0.532;SOR=11.003	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:79,18:97:30:0|1:64158707_T_C:30,0,2469:64158707	2	0	15	2
chr14	64158708	64158708	G	C	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_015180:exon86:c.G15876C:p.M5292I,SYNE2:NM_182914:exon86:c.G15876C:p.M5292I	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.0083565949609	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.2520115	0.42548	T	0.008357	0.22130	T	0.077	0.22490	0.515	0.61459	0.404034981753	0.40020	0.26592724106991794	0.26505	0.0746054716563	0.08373	0.455664932728	0.32718	T	0.114551	0.49765	T	-0.102008	0.36092	T	-0.384304	0.35219	T	0.651877224445343	0.38542	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	.;.;.;.;.	.;.;.;.;.	2.298733	0.29410	18.11	0.97187594042519665	0.32749	0.88851	0.48981	D	AEFGBI	0.256398	0.37533	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	.	.	.	.	.	.	.	.	0.1111	1526.87	42	chr14	64158708	.	G	C	1526.87	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-4.476;DP=1445;ExcessHet=2.9153;FS=183.125;InbreedingCoeff=-0.2443;MLEAC=4;MLEAF=0.111;MQ=60;MQRankSum=0;QD=1.92;ReadPosRankSum=0.927;SOR=10.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:79,18:97:30:0|1:64158707_T_C:30,0,2469:64158707	14	0	4	1
chr14	66879975	66879975	A	T	exonic	GPHN	.	nonsynonymous SNV	GPHN:NM_001024218:exon5:c.A331T:p.M111L,GPHN:NM_001377515:exon5:c.A331T:p.M111L,GPHN:NM_001377516:exon5:c.A331T:p.M111L,GPHN:NM_001377517:exon5:c.A331T:p.M111L,GPHN:NM_001377518:exon5:c.A331T:p.M111L,GPHN:NM_020806:exon5:c.A331T:p.M111L,GPHN:NM_001377514:exon6:c.A370T:p.M124L,GPHN:NM_001377519:exon6:c.A370T:p.M124L	Molybdenum cofactor deficiency C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.512	0.0193921537179	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.12109	T	1.0	0.31125	T	0.282	0.41647	B	0.697	0.58564	P	0.000000	0.84330	D	0.000000	0.99999	0.81001	D	-0.83	0.01527	N	-0.94	0.75325	T	-0.18	0.18877	N	0.645	0.65930	-0.6272	0.63689	T	0.249	0.61889	T	10	0.3726886	0.53597	T	0.019392	0.41739	T	0.512	0.79094	0.467	0.53891	0.793116883269	0.79119	0.9506805273413836	0.95052	0.67202664392	0.59506	0.807881474495	0.83166	D	0.333793	0.70360	T	0.191044	0.73059	D	0.0366445	0.72710	D	0.925168693065643	0.58673	D	0.993001	0.98400	D	0.71572	0.78924	0.31606358	0.57589	0.71572	0.78925	0.31606358	0.57588	-4.89	0.35622	T	0.07248696154483103	0.02975	0.514	0.82540	A	.;.;.;.;.	.;.;.;.;.	4.753840	0.76787	26.6	0.93902057702265229	0.23931	0.98813	0.87189	D	AEFGI	0.927560	0.91040	D	0.0246471266932842	0.42978	2.599852	0.217644940833135	0.50825	3.270703	0.999981175865378	0.51787	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	4.93	4.93	0.64394	9.142000	0.93794	11.043000	0.85201	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	14.862	0.70025	0	0.99858	MoaB/Mog domain|MoaB/Mog domain|MoaB/Mog domain|MoaB/Mog domain;.;MoaB/Mog domain|MoaB/Mog domain;MoaB/Mog domain|MoaB/Mog domain|MoaB/Mog domain|MoaB/Mog domain;MoaB/Mog domain|MoaB/Mog domain|MoaB/Mog domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1536.33	34	chr14	66879975	.	A	T	1536.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.828;DP=728;ExcessHet=0;FS=2.396;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.48;ReadPosRankSum=0.69;SOR=0.494	GT:AD:DP:GQ:PL	0/1:53,61:114:99:1550,0,1457	18	0	1	0
chr14	67805304	67805304	C	A	exonic	ZFYVE26	.	nonsynonymous SNV	ZFYVE26:NM_015346:exon8:c.G1184T:p.G395V	Spastic paraplegia 15, autosomal recessive, Autosomal recessive	0	1466	55	1	0	57	0.0190699	0	0	.	186196	ZFYVE26-related_disorder|not_provided|Hereditary_spastic_paraplegia_15|not_specified|Hereditary_spastic_paraplegia|Spastic_paraplegia	.|MedGen:C3661900|MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700,Orphanet:100996|MedGen:CN169374|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.055	0.0153934194612	0.0027	0.00319489	0.0037	0.0008	0.0018	0	0.0008	0.0039	0.0045	0.0088	0.0035769	553	154602	rs35512910	0.0035	0.0035	0.0032	0.0037	0.0170	0.0034	0.0033	0.0143	0.0133	0.0006	0.0022	0.0018	0	0.0005	0.0170	0.0033	0.0045	0.0090	0.0027	0.0027	0.0026	0.0028	0.0071	0.0025	0.0024	0.0052	0.0046	0.0007	0	0.0045	0.0012	0	0	0.0034	0.0039	0.0066	0.0071	0.222	0.22746	T	0.011	0.64786	D	0.045	0.21781	B	0.122	0.32387	B	0.009491	0.30337	N	0.362779	0.959685	0.38140	D	.	.	.	1.86	0.26588	T	-0.13	0.08971	N	0.165	0.32148	-1.0731	0.08745	T	0.038	0.16505	T	10	0.0025664866	0.00039	T	0.015393	0.36094	T	0.055	0.15663	.	.	0.227934060464	0.22382	0.16169291788472615	0.16090	0.205046829069	0.22922	0.395783305168	0.24482	T	0.007186	0.06605	T	-0.545574	0.00310	T	-0.550483	0.17280	T	0.00825396560210703	0.00099	T	0.391661	0.09743	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	0.15385	B	.;.	.;.	1.940681	0.24650	16.47	0.93319764922611348	0.23040	0.90446	0.51628	D	AEFGBI	0.377002	0.46094	N	-0.506721545602045	0.21862	1.163319	-0.299626435153439	0.28111	1.564814	0.928976482814212	0.26950	0.562547	0.31514	0	0.577304	0.33150	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.9	4.75	0.59954	1.480000	0.35072	4.234000	0.42669	-0.114000	0.14653	1.000000	0.71638	1.000000	0.68203	0.926000	0.46234	0.0:0.1357:0.0:0.8643	10.034	0.41291	182	0.92924	.;.	.	.	.	.	.	Likely benign	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	0.006042	0.000000	0.004076	0.002924	0.050000	0.000000	0.009146	0.007576	0.1053	4325.43	33	chr14	67805304	.	C	A	4325.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-1.475;DP=952;ExcessHet=0.7564;FS=3.215;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=10.45;ReadPosRankSum=0.662;SOR=0.777	GT:AD:DP:GQ:PL	0/1:52,44:96:99:1166,0,1351	15	0	4	0
chr14	74809473	74809473	G	C	exonic	YLPM1	.	nonsynonymous SNV	YLPM1:NM_019589:exon7:c.G4615C:p.V1539L	.	431	1049	41	1	0	43	0.0200841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	.	0.0042	0.00219649	0.0062	0.0016	0.0046	0	0.0046	0.0079	0.0114	0.0065	0.0041655	644	154602	rs139645102	0.0054	0.0054	0.0055	0.0054	0.0247	0.0053	0.0053	0.0214	0.0202	0.0014	0.0039	0.0040	2.578e-05	0.0044	0.0247	0.0058	0.0056	0.0055	0.0039	0.0039	0.0041	0.0037	0.0059	0.0036	0.0035	0.0054	0.0052	0.0010	0	0.0030	0.0066	0.0002	0.0034	0.0170	0.0059	0.0066	0.0056	0.369	0.11586	T	0.685	0.13634	T	.	.	.	.	.	.	0.428077	0.12784	N	0.712848	0.999986	0.21372	N	.	.	.	.	.	.	0.12	0.05917	N	0.202	0.22357	-0.9815	0.34655	T	0.018	0.07706	T	9	0.0050153434	0.00108	T	.	.	.	0.099	0.28413	0.246	0.18139	0.043077524339	0.03247	0.3544232962056145	0.35356	0.114460003441	0.12903	0.421121537685	0.27990	T	0.002439	0.01836	T	-0.629407	0.00096	T	-0.670337	0.07586	T	0.0014493992208708	0.00015	T	0.756024	0.37907	T	0.08233242	0.18962	0.07522694	0.16541	0.08233242	0.18961	0.07522694	0.16541	-2.789	0.08082	T	.	.	0.099	0.22282	B	.;.	.;.	1.066790	0.14488	11.06	0.90336484123853977	0.19601	0.67940	0.33616	D	AEFGBI	0.145081	0.26821	N	-0.930382740093858	0.10136	0.4829762	-0.779091164806651	0.15007	0.787145	0.418820137012474	0.20274	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.18	-3.3	0.04692	-0.159000	0.10043	0.795000	0.21604	0.618000	0.50648	0.781000	0.29485	0.996000	0.32793	0.997000	0.79791	0.5994:0.2743:0.1263:0.0	6.547	0.21609	707	0.57054	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.022155	0.020202	0.017663	0.038012	0.000000	0.086207	0.009146	0.007576	0.07895	4187.79	34	chr14	74809473	.	G	C	4187.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.69;DP=967;ExcessHet=0.3672;FS=0.393;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=11.47;ReadPosRankSum=0.035;SOR=0.729	GT:AD:DP:GQ:PL	0/1:67,46:113:99:1158,0,1914	16	0	3	0
chr14	75070632	75070632	A	T	exonic	ZC2HC1C	.	nonsynonymous SNV	ZC2HC1C:NM_001042430:exon2:c.A59T:p.N20I,ZC2HC1C:NM_001330191:exon2:c.A59T:p.N20I,ZC2HC1C:NM_024643:exon2:c.A59T:p.N20I	.	433	1071	18	0	0	18	0.00833333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.228	0.046831026454	8.1e-05	0.00119808	0.0008	0	0	0	0	0.0002	0	0.0049	0.0006792	105	154602	rs201007492	0.0004	0.0004	0.0003	0.0006	0.0049	0.0004	0.0004	0.0045	0.0044	0	0	0.0006	0	0	0.0035	0.0001	0.0004	0.0049	0.0002	0.0002	8.994e-05	0.0003	0.0050	0.0002	0.0001	0.0034	0.0029	4.813e-05	0	0	0.0006	0	0	0	5.88e-05	0	0.0050	0.001	0.91255	D	0.0	0.92824	D	0.997	0.70673	D	0.939	0.67449	D	0.006301	0.32122	N	0.141524	0.523725	0.31548	N	2.175	0.60977	M	0.58	0.54149	T	-7.55	0.95188	D	0.742	0.77789	-0.2784	0.75584	T	0.289	0.66055	T	10	0.006190151	0.00139	T	0.046831	0.62643	D	0.228	0.52768	.	.	0.487348339145	0.48367	0.22904105704477512	0.22819	0.588004060284	0.54360	0.515668153763	0.41017	T	0.006414	0.05843	T	-0.289295	0.09707	T	-0.188062	0.55772	T	0.216257175862433	0.21276	T	0.763424	0.38984	T	0.32686386	0.55213	0.34871656	0.60507	0.32686386	0.55213	0.34871656	0.60507	-3.538	0.16968	T	.	.	0.288	0.52010	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.203451	0.43573	21.8	0.98696521515898128	0.44838	0.86992	0.46402	D	ALL	0.392574	0.47057	N	0.411941661535108	0.62076	4.417961	0.322720731381291	0.56878	3.851863	0.99999999999863	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.527494	0.11647	0	0.567892	0.33627	0	.	.	4.72	4.72	0.59248	3.031000	0.49417	5.045000	0.46946	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.179000	0.21265	1.0:0.0:0.0:0.0	10.559	0.44325	479	0.77495	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.02632	550.33	33	chr14	75070632	.	A	T	550.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.235;DP=696;ExcessHet=0;FS=1.012;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.54;ReadPosRankSum=-1.081;SOR=0.919	GT:AD:DP:GQ:PL	0/1:49,24:73:99:564,0,1360	18	0	1	0
chr14	75070643	75070643	G	C	exonic	ZC2HC1C	.	nonsynonymous SNV	ZC2HC1C:NM_001042430:exon2:c.G70C:p.A24P,ZC2HC1C:NM_001330191:exon2:c.G70C:p.A24P,ZC2HC1C:NM_024643:exon2:c.G70C:p.A24P	.	434	1070	18	0	0	18	0.00834106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.0148684438122	8.2e-05	0.00119808	0.0008	0	0	0	0	0.0002	0	0.0049	0.0006792	105	154602	rs202071124	0.0004	0.0004	0.0003	0.0006	0.0049	0.0004	0.0004	0.0045	0.0044	0	0	0.0006	0	0	0.0035	0.0001	0.0004	0.0049	0.0002	0.0002	8.994e-05	0.0003	0.0050	0.0002	0.0001	0.0034	0.0029	4.812e-05	0	0	0.0006	0	0	0	5.881e-05	0	0.0050	0.009	0.65419	D	0.04	0.57587	D	0.989	0.62824	D	0.893	0.63340	P	0.067454	0.21740	N	0.329934	0.999999	0.08975	N	2.045	0.56016	M	0.41	0.57100	T	-4.28	0.76334	D	0.477	0.57690	-0.9072	0.47191	T	0.207	0.56608	T	10	0.0027681887	0.00043	T	0.014868	0.35264	T	0.128	0.35103	.	.	0.40318662893	0.39936	0.33644218108618373	0.33557	0.559607918602	0.52497	0.327027440071	0.14486	T	0.003707	0.03111	T	-0.384259	0.02928	T	-0.324471	0.42083	T	0.127540001385723	0.15153	T	0.754325	0.37688	T	0.17973155	0.39059	0.17038666	0.39144	0.17973155	0.39059	0.17038666	0.39143	-3.372	0.15070	T	.	.	0.199	0.42170	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.758541	0.36180	20.2	0.99565120680330121	0.72014	0.14751	0.18567	N	ALL	0.186874	0.31418	N	-0.0815084460523322	0.38204	2.233989	-0.251146011460682	0.29731	1.668147	0.999999999305585	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.527494	0.11647	0	0.567892	0.33627	0	.	.	4.72	0.588	0.16630	0.082000	0.14697	1.568000	0.27399	0.676000	0.76740	0.001000	0.13787	1.000000	0.68203	0.879000	0.42020	0.3365:0.0:0.5184:0.145	4.563	0.11567	479	0.77495	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.02632	640.33	33	chr14	75070643	.	G	C	640.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.27;DP=700;ExcessHet=0;FS=2.061;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.32;ReadPosRankSum=-1.528;SOR=0.97	GT:AD:DP:GQ:PL	0/1:50,27:77:99:654,0,1365	18	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	.	.	.	.	.	.	.	.	0.2368	459.9	207	chr14	78297852	.	G	A	459.9	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-3.965;DP=2827;ExcessHet=5.3738;FS=251.731;InbreedingCoeff=-0.327;MLEAC=9;MLEAF=0.237;MQ=60;MQRankSum=0;QD=0.37;ReadPosRankSum=0.61;SOR=13.567	GT:AD:DP:GQ:PL	0/1:79,34:126:64:64,0,1353	10	0	9	0
chr14	81277486	81277486	C	T	exonic	STON2	.	nonsynonymous SNV	STON2:NM_001256430:exon6:c.G1825A:p.A609T,STON2:NM_001366850:exon6:c.G1825A:p.A609T,STON2:NM_001366849:exon7:c.G1996A:p.A666T	.	433	1086	3	0	0	3	0.00137931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188	0.00946776456719	0.0002	0.000199681	0.0003	0	0.0003	0	0.0003	0.0002	0	0.0007	0.0002329	36	154602	rs148802472	0.0002	0.0002	0.0001	0.0002	0.0007	0.0002	0.0002	0.0005	0.0004	0	0.0004	0	0	0.0002	0.0007	0.0001	0.0003	0.0006	0.0002	0.0002	0.0002	0.0002	0.0010	0.0001	0.0001	0.0004	0.0003	2.407e-05	0	0.0003	0	0	9.439e-05	0	0.0002	0	0.0010	0.076	0.34269	T	0.222	0.25748	T	1.0	0.90584	D	0.991	0.79672	D	0.000006	0.62929	D	0.063748	0.994397	0.42266	D	1.15	0.29295	L	2.16	0.19166	T	-0.96	0.25551	N	0.576	0.60579	-1.1169	0.02538	T	0.100	0.37162	T	10	0.1100432	0.20554	T	0.009468	0.24809	T	0.188	0.46444	.	.	0.158540857583	0.15491	0.5288239456696335	0.52806	0.296238709019	0.32010	0.417704939842	0.27522	T	0.01455	0.12369	T	-0.33214	0.05950	T	-0.35071	0.39124	T	0.059877510913579	0.07149	T	0.915608	0.69895	D	0.06624071	0.14235	0.11818139	0.28530	0.06624071	0.14235	0.11818139	0.28529	-6.269	0.48477	T	.	.	0.160	0.38800	B	.;.;.;.	.;.;.;.	3.379765	0.46740	22.3	0.99889674181448629	0.96436	0.95776	0.66105	D	AEFDBIJ	0.419976	0.48699	N	0.533753556682291	0.69101	5.309172	0.559462369662244	0.72057	5.750394	0.999999980070458	0.74766	0.732398	0.92422	0	0.547309	0.14657	0	0.743671	0.96076	0	0.564101	0.26826	0	.	.	5.9	5.9	0.94952	3.723000	0.54682	5.972000	0.52016	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.731000	0.35132	0.0:1.0:0.0:0.0	20.279	0.98503	586	0.69252	.;.;.;Mu homology domain|Mu 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	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1901.33	33	chr14	81277486	.	C	T	1901.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.94;DP=987;ExcessHet=0;FS=0.621;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.78;ReadPosRankSum=-1.159;SOR=0.752	GT:AD:DP:GQ:PL	0/1:70,68:138:99:1915,0,1777	18	0	1	0
chr14	92007650	92007650	T	G	exonic	TRIP11	.	nonsynonymous SNV	TRIP11:NM_001321851:exon10:c.A1514C:p.E505A,TRIP11:NM_004239:exon10:c.A1517C:p.E506A	Achondrogenesis, type IA, Autosomal recessive	225	1292	3	2	0	7	0.00270166	.	.	.	433989	not_provided|Achondrogenesis,_type_IA|Connective_tissue_disorder|not_specified	MedGen:C3661900|MONDO:MONDO:0008701,MedGen:C0265273,OMIM:200600,Orphanet:932,Orphanet:93299|MONDO:MONDO:0003900,MedGen:C0009782|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.196	.	0.0093	0.0153754	0.0066	0.0264	0.0017	0.0071	0	0.0002	0.0033	0.0262	0.0060607	937	154602	rs2273186	0.0025	0.0025	0.0020	0.0030	0.0268	0.0025	0.0024	0.0253	0.0248	0.0268	0.0018	0	0.0037	0	0.0026	0.0002	0.0047	0.0238	0.0083	0.0084	0.0084	0.0082	0.0250	0.0079	0.0078	0.0237	0.0232	0.0250	0	0.0024	0	0.0073	0	0.0068	0.0003	0.0066	0.0240	0.0	0.91255	D	0.006	0.70582	D	0.998	0.73220	D	0.929	0.66367	D	0.000000	0.84330	D	0.000000	0.999673	0.48205	D	2.82	0.82106	M	3.41	0.05574	T	-2.56	0.55339	D	0.471	0.50688	-0.6865	0.61071	T	0.157	0.48891	T	10	0.008237064	0.00187	T	.	.	.	0.196	0.47777	.	.	0.311387274539	0.30754	0.2233592934776277	0.22250	0.523518099655	0.50058	0.494267821312	0.38031	T	0.12948	0.45778	T	-0.444874	0.01210	T	-0.392883	0.34213	T	0.115267241626062	0.13962	T	0.824018	0.48536	T	0.5757454	0.71376	0.4665094	0.69045	0.5757454	0.71377	0.4665094	0.69046	-6.114	0.47223	T	0.5417541670725102	0.61131	0.162	0.35849	B	.	.	4.178489	0.62890	24.5	0.99369611690440784	0.61368	0.98814	0.87202	D	AEFBI	0.609001	0.59836	D	0.024442422058752	0.42968	2.599118	0.0405560930377334	0.41617	2.50335	0.956381682905652	0.28244	0.706548	0.73137	0	0.708844	0.79440	0	0.463624	0.06942	0	0.714379	0.83352	0	.	.	6.04	3.63	0.40741	6.586000	0.73956	4.299000	0.42935	-0.147000	0.12262	1.000000	0.71638	1.000000	0.68203	0.750000	0.35786	0.0:0.0:0.251:0.749	13.185	0.59100	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	0	0	1	0	0.009063	0.020202	0.008152	0.008772	0.000000	0.008621	0.003049	0.015152	0.05263	1974.83	33	chr14	92007650	.	T	G	1974.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.04;DP=728;ExcessHet=0.119;FS=0.822;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=15.31;ReadPosRankSum=0.455;SOR=0.836	GT:AD:DP:GQ:PL	0/1:38,40:78:99:1179,0,1110	17	0	2	0
chr14	93928563	93928563	G	C	exonic	FAM181A	.	nonsynonymous SNV	FAM181A:NM_001207071:exon2:c.G278C:p.G93A,FAM181A:NM_001207072:exon2:c.G278C:p.G93A,FAM181A:NM_001207073:exon2:c.G278C:p.G93A,FAM181A:NM_001207074:exon2:c.G278C:p.G93A,FAM181A:NM_138344:exon3:c.G464C:p.G155A	.	338	1178	5	1	0	7	0.00296234	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	.	.	0.00279553	0.0026	0	0	0	0	6.155e-05	0.0023	0.0183	0.0021216	328	154602	rs533878313	0.0011	0.0011	0.0006	0.0017	0.0180	0.0011	0.0011	0.0172	0.0169	5.974e-05	0	0	2.52e-05	0	0.0002	4.048e-05	0.0010	0.0180	0.0005	0.0005	0.0003	0.0007	0.0145	0.0004	0.0004	0.0118	0.0108	7.215e-05	0	0	0	0.0002	0	0	4.411e-05	0	0.0145	0.72	0.10412	T	0.672	0.12107	T	0.965	0.56013	D	0.78	0.57283	P	0.103615	0.19739	U	0.263955	0.956222	0.26306	N	2.3	0.65703	M	1.82	0.25018	T	-0.37	0.13226	N	0.199	0.23125	-1.0857	0.06281	T	0.052	0.22153	T	10	0.0028927326	0.00046	T	.	.	.	0.076	0.22200	0.129	0.03412	0.128392430309	0.12331	0.05358845202913852	0.05300	0.0743505985231	0.08337	0.359137296677	0.19260	T	0.008381	0.07697	T	-0.4906	0.00645	T	-0.463209	0.26251	T	0.0549420401293615	0.06348	T	.	.	.	0.084708266	0.19618	0.12736589	0.30660	0.084708266	0.19617	0.12736589	0.30659	-3.838	0.22438	T	.	.	0.098	0.16363	B	.;.;.;.;.	.;.;.;.;.	2.678345	0.34935	19.76	0.77098038543141312	0.11735	0.68217	0.33719	D	AEFDBCI	0.334725	0.43340	N	0.00199678149564077	0.41945	2.518246	0.00882434506056121	0.40123	2.390	0.8988805680932	0.26037	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.3	3.38	0.37806	1.418000	0.34389	8.150000	0.76709	0.590000	0.31872	0.569000	0.27497	1.000000	0.68203	0.984000	0.60418	0.0917:0.0:0.7431:0.1652	7.540	0.26902	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	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	1173.33	37	chr14	93928563	.	G	C	1173.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.643;DP=758;ExcessHet=0;FS=1.633;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.62;ReadPosRankSum=1.05;SOR=0.51	GT:AD:DP:GQ:PL	0/1:50,51:101:99:1187,0,1320	18	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	.	.	.	.	.	.	.	.	0.4722	10250.8	91	chr14	94497802	.	C	T	10250.8	.	AC=17;AF=0.472;AN=36;BaseQRankSum=-1.403;DP=2518;ExcessHet=31.086;FS=244.116;InbreedingCoeff=-0.8537;MLEAC=18;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.62;ReadPosRankSum=0.296;SOR=13.49	GT:AD:DP:GQ:PL	0/1:77,69:146:99:884,0,1233	1	0	17	1
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	.	.	.	.	.	.	.	.	0.1429	295.95	35	chr14	96328709	.	G	C	295.95	.	AC=4;AF=0.143;AN=28;BaseQRankSum=-1.009;DP=859;ExcessHet=0.7564;FS=144.371;InbreedingCoeff=-0.2105;MLEAC=5;MLEAF=0.179;MQ=60;MQRankSum=0;QD=1.76;ReadPosRankSum=0.291;SOR=9.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:54,12:66:74:.:.:74,0,1589:.	10	0	4	5
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	.	.	.	.	.	.	.	.	0.08824	201.76	34	chr14	96328715	.	G	C	201.76	.	AC=3;AF=0.088;AN=34;BaseQRankSum=-2.308;DP=809;ExcessHet=0.3672;FS=161.501;InbreedingCoeff=-0.1149;MLEAC=3;MLEAF=0.088;MQ=60;MQRankSum=0;QD=1.52;ReadPosRankSum=0.208;SOR=8.155	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:50,7:61:8:.:.:8,0,1548:.	14	0	3	2
chr14	96382420	96382420	G	A	exonic	GSKIP	.	nonsynonymous SNV	GSKIP:NM_001271906:exon2:c.G173A:p.R58Q,GSKIP:NM_001271904:exon3:c.G173A:p.R58Q,GSKIP:NM_001271905:exon3:c.G173A:p.R58Q,GSKIP:NM_016472:exon3:c.G173A:p.R58Q	.	432	1084	6	0	0	6	0.00275989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.0042637808117	7.7e-05	.	0.0002	0	0	0	0	7.493e-05	0	0.0013	0.0001876	29	154602	rs149577622	0.0002	0.0002	0.0002	0.0002	0.0006	0.0001	0.0001	0.0005	0.0004	0	4.472e-05	0	2.52e-05	0	0.0003	0.0001	0.0003	0.0006	9.866e-05	9.852e-05	9.003e-05	0.0001	0.0006	6.013e-05	4.885e-05	0.0002	9.003e-05	0	0	6.551e-05	0	0	0	0	0.0002	0	0.0006	0.013	0.53900	D	0.599	0.26467	T	0.156	0.28196	B	0.027	0.21085	B	0.003007	0.35573	N	0.355854	0.998583	0.22057	N	0.55	0.14455	N	.	.	.	0.83	0.02068	N	0.123	0.11483	-1.0325	0.19650	T	0.044	0.18783	T	9	0.026693314	0.00830	T	0.004264	0.10310	T	0.046	0.12618	.	.	0.0934897674506	0.08844	0.23383954646144595	0.23298	0.474208932683	0.46613	0.332076072693	0.15249	T	0.053626	0.29495	T	-0.427166	0.01542	T	-0.436811	0.29166	T	0.0433102812564113	0.04295	T	0.863414	0.55914	D	0.046107553	0.07661	0.06599964	0.13458	0.046107553	0.07660	0.06599964	0.13458	-4.095	0.25216	T	.	.	0.073	0.10449	B	.;.;.;.;.;.	.;.;.;.;.;.	3.286043	0.45040	22.1	0.99882053073137289	0.95813	0.81971	0.41273	D	AEFBI	0.182143	0.30947	N	-0.295009019373739	0.29339	1.626204	-0.119247373309077	0.34614	1.993093	0.91314128271047	0.26414	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.66	2.7	0.31007	1.841000	0.38881	2.554000	0.33279	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.989000	0.64315	0.0903:0.563:0.3468:0.0	10.077	0.41537	934	0.15400	GSKIP domain;GSKIP domain;GSKIP domain;GSKIP domain;GSKIP domain;GSKIP domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1185.33	34	chr14	96382420	.	G	A	1185.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.13;DP=811;ExcessHet=0;FS=1.584;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.05;ReadPosRankSum=-1.175;SOR=0.913	GT:AD:DP:GQ:PL	0/1:73,45:118:99:1199,0,1864	18	0	1	0
chr14	100329038	100329038	C	T	exonic	SLC25A47	.	nonsynonymous SNV	SLC25A47:NM_001350877:exon5:c.C202T:p.R68W,SLC25A47:NM_207117:exon5:c.C640T:p.R214W	.	422	1092	8	0	0	8	0.00364964	.	.	.	2807242	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.292	.	0.0033	0.00279553	0.0045	0.0006	0.0013	0.0004	0.0169	0.0053	0.0048	0.0032	0.0040814	631	154602	rs149283899	0.0045	0.0046	0.0044	0.0046	0.0089	0.0044	0.0044	0.0069	0.0062	0.0006	0.0017	0.0018	0.0003	0.0153	0.0089	0.0046	0.0039	0.0040	0.0038	0.0038	0.0032	0.0044	0.0045	0.0035	0.0034	0.0041	0.0039	0.0008	0	0.0014	0.0014	0.0002	0.0167	0.0102	0.0045	0.0033	0.0031	0.014	0.53172	D	0.015	0.61642	D	0.99	0.63424	D	0.659	0.52771	P	0.209982	0.16389	N	0.655295	0.999609	0.21886	N	2.14	0.59869	M	-1.21	0.78645	T	-2.87	0.60348	D	0.214	0.24010	-0.6530	0.62583	T	0.275	0.64722	T	10	0.008070886	0.00183	T	.	.	.	0.292	0.61157	.	.	0.713213672773	0.71070	0.5117693319778596	0.51098	0.625602768882	0.56732	0.264423131943	0.05429	T	0.041428	0.25853	T	-0.339582	0.05417	T	-0.259058	0.48918	T	0.0271329905904209	0.01563	T	0.719828	0.33277	T	0.24349463	0.47289	0.24505222	0.49984	0.24349463	0.47289	0.24505222	0.49983	-7.055	0.54435	T	.	.	0.093	0.22318	B	.;.	.;.	4.469724	0.69640	25.4	0.99908386432620599	0.97875	0.69346	0.34152	D	AEFDBHCI	0.938240	0.93715	D	0.0924172043808188	0.46109	2.856489	0.0618605294313406	0.42649	2.583331	0.999999949913218	0.74766	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.89	3.93	0.44666	1.701000	0.37444	1.669000	0.27944	0.549000	0.26987	0.958000	0.33488	0.238000	0.23831	0.032000	0.13371	0.2556:0.7444:0.0:0.0	12.511	0.55351	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	0	0	1	0	0.005544	0.000000	0.008152	0.014706	0.000000	0.008621	0.000000	0.003788	0.02632	1657.33	42	chr14	100329038	.	C	T	1657.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.03;DP=867;ExcessHet=0;FS=2.383;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.15;ReadPosRankSum=-0.156;SOR=0.475	GT:AD:DP:GQ:PL	0/1:64,62:126:99:1671,0,1558	18	0	1	0
chr14	100538200	100538200	C	A	exonic	BEGAIN	.	nonsynonymous SNV	BEGAIN:NM_001385100:exon5:c.G1467T:p.E489D,BEGAIN:NM_001159531:exon6:c.G1551T:p.E517D,BEGAIN:NM_001385093:exon6:c.G1524T:p.E508D,BEGAIN:NM_001385094:exon6:c.G1506T:p.E502D,BEGAIN:NM_001385095:exon6:c.G1488T:p.E496D,BEGAIN:NM_001385096:exon6:c.G1467T:p.E489D,BEGAIN:NM_001385097:exon6:c.G1467T:p.E489D,BEGAIN:NM_001385098:exon6:c.G1467T:p.E489D,BEGAIN:NM_001385099:exon6:c.G1467T:p.E489D,BEGAIN:NM_001385101:exon6:c.G1359T:p.E453D,BEGAIN:NM_001385103:exon6:c.G1359T:p.E453D,BEGAIN:NM_001385104:exon6:c.G1359T:p.E453D,BEGAIN:NM_001385082:exon7:c.G1551T:p.E517D,BEGAIN:NM_001385083:exon7:c.G1551T:p.E517D,BEGAIN:NM_001385084:exon7:c.G1551T:p.E517D,BEGAIN:NM_001385088:exon7:c.G1641T:p.E547D,BEGAIN:NM_001385089:exon7:c.G1608T:p.E536D,BEGAIN:NM_001385090:exon7:c.G1590T:p.E530D,BEGAIN:NM_001385091:exon7:c.G1587T:p.E529D,BEGAIN:NM_001385092:exon7:c.G1572T:p.E524D,BEGAIN:NM_001385102:exon7:c.G1359T:p.E453D,BEGAIN:NM_020836:exon7:c.G1551T:p.E517D,BEGAIN:NM_001385085:exon8:c.G1698T:p.E566D,BEGAIN:NM_001385086:exon8:c.G1680T:p.E560D,BEGAIN:NM_001385087:exon8:c.G1677T:p.E559D	.	.	.	.	.	.	.	.	.	.	.	4100921	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.075	0.06812326728	.	0.000199681	0.0004	0.0008	0	0.0004	0	0	0	0.0016	9.06e-05	14	154602	rs553312951	6.206e-05	6.498e-05	4.237e-05	8.215e-05	0.0008	5.091e-05	4.756e-05	0.0006	0.0006	0.0002	0	0	0.0005	0	0	0	3.446e-05	0.0008	6.57e-05	6.562e-05	2.571e-05	0.0001	0.0004	3.516e-05	2.616e-05	7.873e-05	5.576e-05	0.0002	0	0	0	0	0	0	1.471e-05	0	0.0004	0.744	0.03653	T	0.365	0.16717	T	0.0	0.02946	B	0.002	0.06944	B	0.130300	0.18664	N	0.564050	0.638847	0.30634	N	0.56	0.15190	N	.	.	.	-0.5	0.15782	N	0.03	0.01999	-1.0056	0.28277	T	0.047	0.20037	T	9	0.01943037	0.00434	T	0.068123	0.70362	D	0.075	0.21907	0.109	0.01988	0.161926535498	0.15789	0.08054970003519601	0.07989	0.390963386496	0.40301	0.8610932827	0.91273	D	0.011708	0.10405	T	-0.532607	0.00371	T	-0.651111	0.08877	T	0.0101379051105296	0.00137	T	0.612539	0.23323	T	0.03887498	0.05263	0.041795876	0.04833	0.03887498	0.05263	0.041795876	0.04833	-3.758	0.20178	T	.	.	0.087	0.11076	B	.;.;.;.	.;.;.;.	0.307785	0.06832	3.357	0.95272123432779776	0.26555	0.71733	0.35141	D	AEFBCI	0.204762	0.33117	N	-0.8360874754505	0.12395	0.6039211	-0.751318513095325	0.15690	0.8264374	0.989236088008516	0.31763	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	4.72	-0.279	0.12252	0.148000	0.16042	-2.308000	0.03920	0.516000	0.23499	0.691000	0.28541	0.000000	0.08366	0.042000	0.14466	0.1228:0.2828:0.4573:0.137	4.17	0.09789	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	.	.	.	.	.	.	.	.	0.02632	731.33	34	chr14	100538200	.	C	A	731.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1;DP=681;ExcessHet=0;FS=2.379;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.24;ReadPosRankSum=0.815;SOR=0.575	GT:AD:DP:GQ:PL	0/1:23,25:48:99:745,0,624	18	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	.	.	.	.	.	.	.	.	0.02632	909.33	33	chr14	103587321	.	G	A	909.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.018;DP=709;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=0.827;SOR=0.691	GT:AD:DP:GQ:PL	0/1:37,39:76:99:923,0,1022	18	0	1	0
chr14	105176646	105176646	C	T	exonic	NUDT14	.	nonsynonymous SNV	NUDT14:NM_001318380:exon4:c.G316A:p.G106S,NUDT14:NM_177533:exon4:c.G316A:p.G106S	.	.	.	.	.	.	.	.	.	.	.	3355869	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.879	0.429108623561	0.0006	.	0.0005	0	0.0002	0	0	0.0008	0.0023	0	0.0004851	75	154602	rs138979378	0.0005	0.0005	0.0005	0.0005	0.0004	0.0005	0.0005	0.0004	0.0004	8.961e-05	0.0002	0.0081	2.519e-05	0	0	0.0004	0.0011	0	0.0005	0.0005	0.0005	0.0004	0.0005	0.0004	0.0003	0.0003	0.0003	7.218e-05	0	0.0005	0.0089	0	0	0	0.0004	0.0005	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.987	0.77487	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.58	0.93551	H	-3.74	0.95493	D	-5.8	0.88148	D	0.743	0.74280	1.045	0.98012	D	0.942	0.98085	D	10	0.09048328	0.15765	T	0.429109	0.93946	D	0.879	0.96428	.	.	0.976813957553	0.97655	0.8634717334231793	0.86311	0.406224518913	0.41498	0.671604752541	0.63066	T	0.61609	0.87901	D	0.253149	0.78895	D	0.484436	0.94291	D	0.336647778749466	0.26490	T	0.918508	0.70719	D	0.88190037	0.89824	0.78535765	0.87358	0.88190037	0.89825	0.78535765	0.87358	-13.639	0.91825	D	.	.	0.410	0.60150	A	.	.	5.406379	0.90513	31	0.99873581013991841	0.95076	0.94539	0.61494	D	AEFDBCI	0.794668	0.72230	D	0.696831554682924	0.79423	7.074814	0.494703795601151	0.67638	5.110967	0.999999999999882	0.74766	0.50712	0.20391	0	0.844039	0.99811	0	0.723109	0.80598	0	0.635259	0.50027	0	.	.	3.62	3.62	0.40616	3.923000	0.56182	5.269000	0.48146	0.599000	0.40250	0.972000	0.34453	1.000000	0.68203	0.955000	0.50612	0.0:1.0:0.0:0.0	11.085	0.47304	958	0.09170	NUDIX hydrolase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1914.33	34	chr14	105176646	.	C	T	1914.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.87;DP=808;ExcessHet=0;FS=5.471;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.13;ReadPosRankSum=-0.311;SOR=0.519	GT:AD:DP:GQ:PL	0/1:98,74:172:99:1928,0,2187	18	0	1	0
chr15	20534613	20534613	C	0	exonic	GOLGA6L6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	1082.41	59	chr15	20534613	.	C	*	1082.41	.	AC=9;AF=0.25;AN=36;BaseQRankSum=0.242;DP=1470;ExcessHet=2.8258;FS=2.589;InbreedingCoeff=-0.1846;MLEAC=9;MLEAF=0.25;MQ=53.63;MQRankSum=0.168;QD=1.42;ReadPosRankSum=2.06;SOR=0.863	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:36,22:58:99:0|1:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:735,0,1371:20534604	9	0	9	1
chr15	20534634	20534718	CTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCCCTTATCTTCTCCTCCTGCTTCCACATCTTCTCCTCCTGCTCCTGCCTCTTT	0	exonic	GOLGA6L6	.	.	.	.	495	631	268	4	124	400	0.179454	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	2533.1	45	chr15	20534634	.	CTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCCCTTATCTTCTCCTCCTGCTTCCACATCTTCTCCTCCTGCTCCTGCCTCTTT	*	2533.1	.	AC=8;AF=0.211;AN=38;BaseQRankSum=0.391;DP=1435;ExcessHet=5.5644;FS=2.545;InbreedingCoeff=-0.2667;MLEAC=8;MLEAF=0.211;MQ=51.31;MQRankSum=1.09;QD=3.44;ReadPosRankSum=-0.721;SOR=0.903	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:11,22:44:6:1|0:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:788,6,890:20534604	11	0	8	0
chr15	20534664	20534665	CT	0	exonic	GOLGA6L6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3889	434.18	45	chr15	20534664	.	CT	*	434.18	.	AC=14;AF=0.389;AN=36;BaseQRankSum=2.28;DP=1323;ExcessHet=20.8569;FS=1.158;InbreedingCoeff=-0.6889;MLEAC=14;MLEAF=0.389;MQ=51.72;MQRankSum=0.854;QD=0.68;ReadPosRankSum=-3.234;SOR=0.835	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:11,22:44:99:1|0:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:782,0,884:20534604	4	0	14	1
chr15	20534666	20534686	CCCTTATCTTCTCCTCCTGCT	0	exonic	GOLGA6L6	.	.	.	.	599	689	226	4	4	238	0.145161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4118	434.55	45	chr15	20534666	.	CCCTTATCTTCTCCTCCTGCT	*	434.55	.	AC=14;AF=0.412;AN=34;BaseQRankSum=0.882;DP=1318;ExcessHet=20.8569;FS=1.158;InbreedingCoeff=-0.7273;MLEAC=15;MLEAF=0.441;MQ=51.07;MQRankSum=1.13;QD=0.68;ReadPosRankSum=-3.191;SOR=0.824	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:11,22:44:99:1|0:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:782,0,884:20534604	3	0	14	2
chr15	20534693	20534693	T	0	exonic	GOLGA6L6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3947	327.06	45	chr15	20534693	.	T	*	327.06	.	AC=15;AF=0.395;AN=38;BaseQRankSum=0.078;DP=1294;ExcessHet=25.4433;FS=1.177;InbreedingCoeff=-0.7344;MLEAC=15;MLEAF=0.395;MQ=50.05;MQRankSum=0.956;QD=0.47;ReadPosRankSum=-1.583;SOR=0.833	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:11,22:44:99:1|0:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:782,0,884:20534604	4	0	15	0
chr15	20534699	20534705	CCTCCTG	0	exonic	GOLGA6L6	.	.	.	.	504	770	47	2	199	250	0.0320553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3947	276.96	45	chr15	20534699	.	CCTCCTG	*	276.96	.	AC=15;AF=0.395;AN=38;BaseQRankSum=0.808;DP=1281;ExcessHet=25.4433;FS=1.176;InbreedingCoeff=-0.7274;MLEAC=15;MLEAF=0.395;MQ=40.86;MQRankSum=-1.387;QD=0.4;ReadPosRankSum=0.802;SOR=0.807	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:11,22:44:99:1|0:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:782,0,884:20534604	4	0	15	0
chr15	21652117	21652117	A	C	exonic	OR4N4C	.	nonsynonymous SNV	OR4N4C:NM_001365389:exon2:c.A234C:p.L78F	.	465	768	265	24	0	313	0.169281	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.738e-06	0.0002	4.777e-06	8.48e-06	8.749e-05	1.79e-06	5e-07	.	.	8.749e-05	0	7.657e-05	0	0	0	3.89e-06	0	0	8.705e-06	0.0001	0	1.8e-05	3.488e-05	0	0	.	.	3.488e-05	0	0	0	0	0	0	0	0	0	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	0.000108	0.50451	N	0.000000	0.99988	0.19925	P	.	.	.	.	.	.	.	.	.	0.182	0.19728	-1.0434	0.16294	T	0.000	0.00011	T	9	0.0018065572	0.00024	T	.	.	.	.	.	0.381	0.39807	.	.	0.040043207446890695	0.03950	.	.	0.311506986618	0.12134	T	.	.	.	-0.674746	0.00051	T	-0.598182	0.12964	T	0.00326191471079691	0.00034	T	0.287271	0.05164	T	.	.	.	.	.	.	.	.	-0.124	0.00396	T	.	.	0.073	0.04599	B	.;.	.;.	0.850845	0.12232	8.774	0.66924304402247636	0.08201	0.00687	0.02939	N	AEI	.	.	.	-1.62473285776486	0.01146	0.04979641	-1.44264627457213	0.02837	0.1312614	5.3174549639366E-4	0.07248	0.525926	0.21836	0	0.615948	0.52940	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	3.24	2.28	0.27583	-1.083000	0.03507	-0.079000	0.12201	-0.781000	0.03322	0.002000	0.15269	0.160000	0.23254	0.175000	0.21139	0.3717:0.6283:0.0:0.0	9.685	0.39261	.	.	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	.	.	.	.	.	.	.	.	0.07895	2874.79	34	chr15	21652117	.	A	C	2874.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=3.46;DP=1143;ExcessHet=0.3672;FS=3.858;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=28.15;MQRankSum=-0.218;QD=5.23;ReadPosRankSum=-0.519;SOR=0.999	GT:AD:DP:GQ:PL	0/1:85,47:132:99:1052,0,2203	16	0	3	0
chr15	21652190	21652190	C	T	exonic	OR4N4C	.	nonsynonymous SNV	OR4N4C:NM_001365389:exon2:c.C307T:p.L103F	.	442	748	311	21	0	353	0.190914	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	7.129e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.389e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.283	0.21478	T	.	.	.	.	.	.	0.261126	0.15312	N	0.485335	0.999366	0.21303	P	.	.	.	.	.	.	.	.	.	0.103	0.08646	-0.9711	0.36967	T	0.000	0.00011	T	9	0.0015220642	0.00017	T	.	.	.	.	.	.	.	.	.	0.030007910357616414	0.02949	.	.	0.290178626776	0.08949	T	.	.	.	-0.66378	0.00060	T	-0.582431	0.14328	T	0.000522953042824942	0.00004	T	0.540346	0.18307	T	.	.	.	.	.	.	.	.	-5.352	0.40455	T	.	.	0.093	0.14062	B	.;.	.;.	1.025571	0.14055	10.62	0.93500601886041435	0.23307	0.07624	0.13632	N	AEFCI	.	.	.	-0.844437362999696	0.12186	0.5925257	-0.887036193530605	0.12400	0.6376486	3.35547801273524E-4	0.06583	0.525926	0.21836	0	0.615948	0.52940	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	3.2	0.085	0.13749	-0.579000	0.05927	-1.581000	0.05125	0.268000	0.18485	0.000000	0.06391	0.000000	0.08366	0.409000	0.26983	0.0:0.3722:0.2141:0.4137	3.269	0.06470	.	.	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	.	.	.	.	.	.	.	.	0.07895	5203.79	34	chr15	21652190	.	C	T	5203.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=3.35;DP=1924;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=32.55;MQRankSum=-0.045;QD=5.5;ReadPosRankSum=0.943;SOR=0.725	GT:AD:DP:GQ:PL	0/1:149,82:231:99:1781,0,3787	16	0	3	0
chr15	21652283	21652283	G	C	exonic	OR4N4C	.	nonsynonymous SNV	OR4N4C:NM_001365389:exon2:c.G400C:p.V134L	.	444	742	317	19	0	355	0.19304	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1277263862	0.0001	0.0001	8.806e-05	0.0001	0.0006	8.456e-05	7.79e-05	0.0003	0.0002	0.0006	0.0002	0	0	0	0	9.504e-05	0.0002	9.725e-05	0.0003	0.0003	0.0003	0.0003	0.0008	0.0002	0.0002	0.0005	0.0004	0.0008	0	0.0003	0	0	0	0	6.04e-05	0.0020	0	.	.	.	0.136	0.34009	T	.	.	.	.	.	.	0.000469	0.44119	D	0.000000	1	0.08975	P	.	.	.	.	.	.	.	.	.	0.218	0.24385	-0.8916	0.48793	T	0.000	0.00011	T	9	0.001629144	0.00019	T	.	.	.	.	.	0.312	0.28612	.	.	0.07580462846120836	0.07516	.	.	0.250244468451	0.03793	T	.	.	.	-0.532543	0.00371	T	-0.393918	0.34092	T	0.031530545555236	0.02231	T	0.857714	0.54741	D	.	.	.	.	.	.	.	.	-5.754	0.44172	T	.	.	0.162	0.35767	B	.;.	.;.	2.487917	0.32091	18.94	0.99194466592430841	0.55083	0.14978	0.18683	N	AEFHCI	.	.	.	-0.187369143140256	0.33660	1.91217	-0.318033235840288	0.27516	1.527408	0.00464552456930878	0.10654	0.525926	0.21836	0	0.615948	0.52940	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	3.2	2.26	0.27418	2.575000	0.45689	1.571000	0.27417	0.299000	0.18918	0.133000	0.23395	0.004000	0.18990	0.984000	0.60418	0.2721:0.0:0.7279:0.0	5.367	0.15423	.	.	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	.	.	.	.	.	.	.	.	0.07895	8970.79	34	chr15	21652283	.	G	C	8970.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=2.37;DP=1793;ExcessHet=0.3672;FS=2.68;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=33.05;MQRankSum=-1.145;QD=10.89;ReadPosRankSum=0.157;SOR=0.526	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:132,71:203:99:0|1:21652283_G_C:2443,0,5187:21652283	16	0	3	0
chr15	21652290	21652290	C	A	exonic	OR4N4C	.	nonsynonymous SNV	OR4N4C:NM_001365389:exon2:c.C407A:p.A136D	.	445	758	303	16	0	335	0.180983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1325108497	7.359e-05	0.0001	5.407e-05	9.171e-05	0.0002	5.914e-05	5.388e-05	9.719e-05	7.073e-05	4.42e-05	0.0002	0	0	0	0	7.582e-05	0.0001	6.801e-05	8.658e-05	0.0002	7.449e-05	9.95e-05	0.0003	4.464e-05	3.34e-05	7.618e-05	4.051e-05	7.641e-05	0	0.0003	0	0	0	0	2.089e-05	0.0021	0	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	0.000167	0.48594	D	0.000000	0.0199557	0.39625	P	.	.	.	.	.	.	.	.	.	0.631	0.64478	-0.9692	0.37366	T	0.000	0.00114	T	9	0.002110511	0.00030	T	.	.	.	.	.	.	.	.	.	0.4398908667552438	0.43906	.	.	0.395352125168	0.24421	T	.	.	.	-0.179371	0.23830	T	0.113389	0.77796	D	0.0805372903841944	0.10055	T	0.976052	0.91638	D	.	.	.	.	.	.	.	.	-13.572	0.91582	D	.	.	0.411	0.60193	A	.;.	.;.	4.705929	0.75548	26.4	0.99729135027837246	0.82619	0.93345	0.57969	D	AEFHCI	.	.	.	0.668177313905204	0.77549	6.696248	0.481736136598001	0.66782	4.996887	0.99991764154766	0.45857	0.525926	0.21836	0	0.615948	0.52940	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	3.2	3.2	0.35826	4.696000	0.61460	5.281000	0.48180	0.268000	0.18485	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:1.0:0.0:0.0	12.276	0.54051	.	.	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	.	.	.	.	.	.	.	.	0.07895	8994.79	34	chr15	21652290	.	C	A	8994.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.745;DP=1778;ExcessHet=0.3672;FS=1.934;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=33.12;MQRankSum=-1.247;QD=11.08;ReadPosRankSum=0.423;SOR=0.511	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:130,70:200:99:0|1:21652283_G_C:2427,0,5157:21652283	16	0	3	0
chr15	22081297	22081297	T	C	exonic	OR4M2	.	nonsynonymous SNV	OR4M2:NM_001004719:exon1:c.T673C:p.F225L	.	540	106	147	729	0	1605	0.883324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	.	.	.	0.9050	0.7710	0.9468	0.9535	0.9317	0.9220	0.9117	0.8549	0.780262	120630	154602	rs491208	0	5.101e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000844	0.41440	N	0.000000	1	0.08975	P	-2.445	0.00066	N	.	.	.	.	.	.	0.024	0.00445	-0.9717	0.36841	T	0.000	0.00011	T	9	7.2730036e-05	0.00009	T	.	.	.	.	.	0.54	0.65161	.	.	0.19599440268041618	0.19516	.	.	.	.	.	0.00272	0.02115	T	-0.672873	0.00053	T	-0.702807	0.05673	T	0.00771905005910873	0.00090	T	0.142386	0.01156	T	0.07985808	0.18268	0.08259106	0.18862	0.07985808	0.18267	0.08259106	0.18861	0.242	0.00274	T	.	.	0.245	0.47901	B	.	.	1.048175	0.14294	10.87	0.73235698812529659	0.10255	0.01725	0.05460	N	AEFGBCI	.	.	.	-1.86751014071891	0.00400	0.01720119	-1.75517952119794	0.00914	0.04088312	0.944484955208236	0.27617	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	2.5	0.487	0.16050	-0.893000	0.04234	-0.516000	0.08717	-0.757000	0.03535	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.0:0.4472:0.0:0.5528	6.210	0.19834	.	.	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.865792	0.833333	0.845109	0.862573	0.900000	0.887931	0.920732	0.867424	0.9062	36371.9	254	chr15	22081297	.	T	C	36371.9	.	AC=29;AF=0.906;AN=32;BaseQRankSum=7.18;DP=2254;ExcessHet=0.0128;FS=82.112;InbreedingCoeff=0.2;MLEAC=32;MLEAF=1;MQ=39;MQRankSum=-9.429;QD=21.37;ReadPosRankSum=-0.973;SOR=4.312	GT:AD:DP:GQ:PL	1/1:0,99:99:99:3270,298,0	0	13	3	3
chr15	23129992	23129994	CTG	-	exonic	GOLGA6L1;GOLGA6L22;LOC102723623	.	nonframeshift deletion	GOLGA6L1:NM_001001413:exon8:c.1459_1461del:p.Q487_M657delinsEKIRKQEEKVWRQEEKMHDQEEKIREQEEKMWRQEEKIREQEEKIREQEEKIREQEEMMQEQEEKMGEQEEKMQEQEKMRRQEEKIREQEEKIREQKEKIREQEEKIWEQEEKIREQEEMMQEQEEKMWEQEEKMCEQEEKMQEQEEKMRRQEEKMWEQEVRLRQQEEKMQEHQEHLEAAI*,GOLGA6L22:NM_001271664:exon9:c.1429_1431del:p.E478_E657delinsIWRQKEKMHEQEKIRKQEEKVWRQEEKMHDQEEKIREQEEKMWRQEEKIREQEEKIREQEEKIREQEEMMQEQEEKMGEQEEKMQEQEKMRRQEEKIREQEEKIREQKEKIREQEEKIWEQEEKIREQEEMMQEQEEKMWEQEEKMCEQEEKMQEQEEKMRRQEEKMWEQEVRLRQQEEKMQEHQEHLEAAI*,LOC102723623:NM_001382446:exon9:c.1387_1389del:p.Q463_E645delinsEKIRKQEEKVWRQEEKMHDQEEKIREQEEKMWRQEEKIREQEEKIREQEEKIREQEEKIREQEEMMQEQEEKMGEQEEKMQEQEKMRRQEEKIREQEEKIREQKEKIREQEEKIWEQEEKIREQEEMMQEQEEKMWEQEEKMCEQEEKMQEQEEKMRRQEEKMWEQEVRLRQQEEKMQEHQEHLEAAI*	.	612	902	8	0	0	8	0.00441501	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.499e-05	0.0001	1.77e-05	5.003e-05	3.979e-05	2.13e-05	1.741e-05	1.996e-05	1.559e-05	0	0	0	3.756e-05	3.384e-05	0	3.724e-05	7.768e-05	3.979e-05	2.009e-05	0.0003	3.873e-05	0	4.113e-05	0	0	.	.	0	0	0	0	0	0	0	4.113e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	69.5	34	chr15	23129991	.	CCTG	C	69.5	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.931;DP=295;ExcessHet=0;FS=7.27;InbreedingCoeff=-0.0011;MLEAC=1;MLEAF=0.026;MQ=38.35;MQRankSum=0.082;QD=4.34;ReadPosRankSum=-1.461;SOR=0.011	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:13,3:16:83:0|1:23129964_C_T:83,0,534:23129964	18	0	1	0
chr15	23129998	23129998	G	C	exonic	GOLGA6L1;GOLGA6L22;LOC102723623	.	nonsynonymous SNV	GOLGA6L1:NM_001001413:exon8:c.C1455G:p.H485Q,GOLGA6L22:NM_001271664:exon9:c.C1425G:p.H475Q,LOC102723623:NM_001382446:exon9:c.C1383G:p.H461Q	.	645	870	7	0	0	7	0.00400687	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00308846918181	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.628e-05	0.0001	2.341e-05	2.88e-05	4.248e-05	1.5e-05	1.106e-05	1.338e-05	9.94e-06	0	4.248e-05	0	4.032e-05	0	0	2.88e-05	4.088e-05	2.143e-05	0	0.0004	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.596	0.08052	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.096	0.07673	.	.	.	.	.	.	.	0.073369235	0.11077	T	0.003088	0.06696	T	.	.	.	.	0.0138822411134	0.00435	0.0025308682557357116	0.00235	.	.	.	.	.	.	.	.	-0.373979	0.03398	T	-0.774971	0.02608	T	.	.	.	0.248475	0.03691	T	0.062411726	0.13033	0.087376066	0.20305	0.062411726	0.13032	0.087376066	0.20304	-2.507	0.05829	T	.	.	0.128	0.27192	B	.	.	-0.827003	0.01055	0.045	0.27594129762390335	0.01377	0.00018	0.00208	N	AEFI	0.013016	0.00159	N	.	.	.	.	.	.	2.92593916896186E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.149	-0.298	0.12179	-2.112000	0.01419	-1.104000	0.06319	-2.496000	0.00265	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	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	.	.	.	.	.	.	.	.	0.02941	38.33	31	chr15	23129998	.	G	C	38.33	.	AC=1;AF=0.029;AN=34;BaseQRankSum=2.03;DP=283;ExcessHet=0;FS=0;InbreedingCoeff=-0.0437;MLEAC=1;MLEAF=0.029;MQ=39.13;MQRankSum=0.934;QD=2.95;ReadPosRankSum=-2.075;SOR=0.061	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:11,2:13:51:0|1:23129964_C_T:51,0,456:23129964	16	0	1	2
chr15	23440492	23440492	C	0	exonic	GOLGA6L2	.	.	.	.	628	57	798	30	9	867	0.882716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	44113.5	193	chr15	23440492	.	C	*	44113.5	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.78;DP=2930;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=19;MLEAF=0.5;MQ=58;MQRankSum=-0.314;QD=15.57;ReadPosRankSum=-0.294;SOR=0.315	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,80:145:99:1|0:23440457_TC_T:5278,2086,2631:23440457	0	0	19	0
chr15	29708628	29708628	G	C	exonic	TJP1	.	nonsynonymous SNV	TJP1:NM_001355015:exon24:c.C4541G:p.S1514C,TJP1:NM_175610:exon24:c.C4541G:p.S1514C,TJP1:NM_001301026:exon25:c.C4553G:p.S1518C,TJP1:NM_001330239:exon25:c.C4781G:p.S1594C,TJP1:NM_001355013:exon25:c.C4793G:p.S1598C,TJP1:NM_001355014:exon25:c.C4781G:p.S1594C,TJP1:NM_003257:exon25:c.C4781G:p.S1594C,TJP1:NM_001301025:exon26:c.C5060G:p.S1687C,TJP1:NM_001355012:exon26:c.C5060G:p.S1687C	.	431	1081	10	0	0	10	0.00460405	.	.	.	2267161	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.255	0.00888550391175	0.0002	.	0.0003	0	0.0003	0	0	0.0003	0.0022	0.0004	0.0002911	45	154602	rs200957753	0.0003	0.0003	0.0002	0.0003	0.0069	0.0002	0.0002	0.0052	0.0046	0.0002	0.0005	0.0001	0	5.616e-05	0.0069	0.0002	0.0006	0.0005	0.0002	0.0002	0.0002	0.0002	0.0006	0.0001	0.0001	0.0002	0.0001	9.65e-05	0	0.0004	0	0	0	0.0032	0.0002	0.0005	0.0006	0.001	0.78490	D	0.004	0.74150	D	0.958	0.59044	D	0.625	0.55268	P	0.000005	0.62929	D	0.110132	0.999853	0.49910	D	0.805	0.20218	L	3.24	0.07024	T	-1.21	0.30762	N	0.382	0.52119	-1.2536	0.00005	T	0.054	0.22731	T	10	0.12284854	0.23310	T	0.008886	0.23439	T	0.255	0.56562	.	.	0.0675242888579	0.06100	0.2931706851141975	0.29230	0.234990860398	0.26029	0.38329911232	0.22724	T	0.201485	0.55938	T	-0.3161	0.07222	T	-0.349102	0.39307	T	0.390551835298538	0.28585	T	0.928207	0.73726	D	0.28187197	0.51227	0.19785282	0.43588	0.28187197	0.51227	0.19785282	0.43587	-8.529	0.66080	D	.	.	0.112	0.22282	B	.;.;.;.;.	.;.;.;.;.	4.599775	0.72836	25.9	0.99230516099741151	0.56214	0.99719	0.98940	D	AEFDBI	0.915589	0.88059	D	0.819872373553367	0.87332	9.18151	0.86536157868631	0.93880	12.34606	0.999999999999998	0.74766	0.67177	0.52595	0	0.573888	0.26702	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	6.17	6.17	0.99707	9.602000	0.97623	9.891000	0.82274	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	20.879	0.99870	974	0.05496	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.014946	0.008772	0.000000	0.017241	0.006098	0.000000	0.02632	2434.33	34	chr15	29708628	.	G	C	2434.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.336;DP=797;ExcessHet=0;FS=2.997;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.75;ReadPosRankSum=-1.337;SOR=0.482	GT:AD:DP:GQ:PL	0/1:75,90:165:99:2448,0,2170	18	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	.	.	.	.	.	.	.	.	0.4091	5435.43	110	chr15	33066576	.	A	G	5435.43	.	AC=9;AF=0.409;AN=22;BaseQRankSum=-0.723;DP=1826;ExcessHet=5.3738;FS=195.705;InbreedingCoeff=-0.52;MLEAC=12;MLEAF=0.545;MQ=60;MQRankSum=0;QD=5.75;ReadPosRankSum=0.903;SOR=10.986	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:69,11:80:99:0|1:33066576_A_G:203,0,2758:33066576	2	0	9	8
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	.	.	.	.	.	.	.	.	0.4545	5964.23	102	chr15	33066577	.	C	G	5964.23	.	AC=10;AF=0.455;AN=22;BaseQRankSum=-1.706;DP=1809;ExcessHet=6.9875;FS=214.034;InbreedingCoeff=-0.5833;MLEAC=13;MLEAF=0.591;MQ=60;MQRankSum=0;QD=5.63;ReadPosRankSum=0.759;SOR=11.083	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:69,11:80:99:0|1:33066576_A_G:203,0,2758:33066576	1	0	10	8
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	.	.	.	.	.	.	.	.	0.2667	3466.35	104	chr15	33066579	.	C	G	3466.35	.	AC=8;AF=0.267;AN=30;BaseQRankSum=-4.77;DP=1876;ExcessHet=5.3738;FS=177.509;InbreedingCoeff=-0.4075;MLEAC=9;MLEAF=0.3;MQ=60;MQRankSum=0;QD=3.69;ReadPosRankSum=0.676;SOR=10.462	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:76,9:85:89:0|1:33066576_A_G:89,0,3024:33066576	7	0	8	4
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	.	.	.	.	.	.	.	.	0.4091	3779.55	104	chr15	33066580	.	C	G	3779.55	.	AC=9;AF=0.409;AN=22;BaseQRankSum=-3.599;DP=1781;ExcessHet=5.3738;FS=184.997;InbreedingCoeff=-0.52;MLEAC=12;MLEAF=0.545;MQ=60;MQRankSum=0;QD=4.06;ReadPosRankSum=0.608;SOR=10.494	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,9:86:86:0|1:33066576_A_G:86,0,3046:33066576	2	0	9	8
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	.	.	.	.	.	.	.	.	0.1667	2088.47	103	chr15	33066583	.	C	G	2088.47	.	AC=5;AF=0.167;AN=30;BaseQRankSum=-3.267;DP=1752;ExcessHet=2.9153;FS=173.431;InbreedingCoeff=-0.3173;MLEAC=6;MLEAF=0.2;MQ=60;MQRankSum=0;QD=2.86;ReadPosRankSum=0.79;SOR=9.869	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,9:86:86:0|1:33066576_A_G:86,0,3046:33066576	10	0	5	4
chr15	33153747	33153747	G	A	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001277313:exon4:c.C1168T:p.R390W,FMN1:NM_001277314:exon4:c.C1168T:p.R390W	.	425	1081	14	2	0	18	0.00825688	.	.	.	1457925	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.074	0.0150364903957	.	0.000399361	0.0006	0	0	0	0	0.0013	0	0.0004	0.0001294	20	154602	rs144328486	0.0005	0.0005	0.0005	0.0006	0.0146	0.0005	0.0005	0.0120	0.0111	0.0005	0.0012	0.0003	2.798e-05	2.947e-05	0.0146	0.0004	0.0012	0.0008	0.0005	0.0005	0.0006	0.0004	0.0008	0.0004	0.0004	0.0005	0.0004	0.0003	0	0.0008	0.0003	0	0	0.0068	0.0005	0.0038	0.0006	0.002	0.72154	D	0.018	0.65728	D	.	.	.	.	.	.	0.061616	0.22159	N	0.336013	.	.	.	0.345	0.11182	N	0.88	0.46028	T	-2.39	0.52612	N	0.189	0.24883	-0.8788	0.49856	T	0.081	0.31943	T	8	0.023217082	0.00601	T	0.015036	0.35538	T	0.074	0.21613	.	.	0.548571244948	0.54512	0.06263845914463202	0.06203	.	.	0.210625976324	0.00838	T	0.274527	0.64702	T	-0.452316	0.01095	T	-0.488617	0.23535	T	0.0337495431303978	0.02596	T	.	.	.	0.10736155	0.25386	0.15047814	0.35488	0.10736155	0.25386	0.15047814	0.35487	-5.954	0.46869	T	.	.	0.081	0.17911	B	.;.;.;.	.;.;.;.	3.919247	0.57202	23.8	0.99894743611932291	0.96819	0.94694	0.62009	D	AEFBI	0.439958	0.49871	N	0.155373536887906	0.49066	3.111252	0.188358737837696	0.49208	3.126835	0.999992957311888	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.46	4.53	0.55009	2.462000	0.44706	4.808000	0.45020	0.676000	0.76740	0.985000	0.35982	1.000000	0.68203	0.240000	0.23001	0.0:0.1326:0.7299:0.1375	11.790	0.51339	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	.	.	.	.	.	.	.	.	0.02632	3445.33	33	chr15	33153747	.	G	A	3445.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.82;DP=858;ExcessHet=0;FS=1.03;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.24;ReadPosRankSum=0.255;SOR=0.6	GT:AD:DP:GQ:PL	0/1:102,124:226:99:3459,0,2349	18	0	1	0
chr15	34527739	34527739	G	T	exonic	GOLGA8B	.	nonsynonymous SNV	GOLGA8B:NM_001023567:exon24:c.C1705A:p.L569M	.	530	522	272	193	5	663	0.386604	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.00589071557526	.	.	0	0	0	0	0	0	0	0	6.5e-06	1	154602	rs2615360	1.918e-05	0.0002	1.729e-05	2.107e-05	0.0006	1.253e-05	1.018e-05	0.0001	4.584e-05	0	0	0	0.0002	0	0.0006	1.247e-05	0	4.401e-05	1.441e-05	9.568e-05	0	2.975e-05	.	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	0	0.986	0.02436	T	0.216	0.26226	T	0.274	0.31856	B	0.069	0.27757	B	.	.	.	.	1	0.81001	D	-1.15	0.00907	N	2.07	0.20387	T	0.07	0.06138	N	0.142	0.14196	-0.9779	0.35481	T	0.017	0.07045	T	9	0.029098809	0.01038	T	0.005891	0.15340	T	0.046	0.12618	0.273	0.22369	0.0138822411134	0.00435	0.07135015325646545	0.07072	.	.	0.545414566994	0.45211	T	9.49E-4	0.00494	T	-0.29879	0.08775	T	-0.666967	0.07803	T	0.0356865325654763	0.02925	T	0.0649935	0.01553	T	0.05111713	0.09341	0.035690103	0.02870	0.05111713	0.09340	0.035690103	0.02869	-6.046	0.46662	T	.	.	0.089	0.12084	B	.;.	.;.	-0.580544	0.01625	0.112	0.61060122549322704	0.06615	0.01001	0.03790	N	AEFI	0.036277	0.04807	N	-1.88089906304009	0.00376	0.01614766	-1.86378301963637	0.00576	0.02556432	2.00325496496389E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.618467	0.43123	0	0.668105	0.65232	0	.	.	1.48	-1.31	0.08749	1.669000	0.37108	-0.470000	0.08985	-2.310000	0.00319	1.000000	0.71638	0.000000	0.08366	0.000000	0.00833	0.0:0.1792:0.225:0.5958	3.483	0.07171	420	0.81451	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02941	2897.99	34	chr15	34527739	.	G	T	2897.99	.	AC=1;AF=0.029;AN=34;BaseQRankSum=0.864;DP=952;ExcessHet=0.0042;FS=51.505;InbreedingCoeff=0.4588;MLEAC=1;MLEAF=0.029;MQ=42.41;MQRankSum=-3.443;QD=8.33;ReadPosRankSum=-2.349;SOR=2.317	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:37,27:64:99:.:.:578,0,959:.	16	0	1	2
chr15	38516315	38516315	C	T	exonic	RASGRP1	.	nonsynonymous SNV	RASGRP1:NM_001128602:exon6:c.G557A:p.R186K,RASGRP1:NM_001306086:exon6:c.G557A:p.R186K,RASGRP1:NM_005739:exon6:c.G557A:p.R186K	.	435	1083	4	0	0	4	0.00184332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.00353748840412	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.34444	T	0.239	0.26631	T	0.112	0.32716	B	0.038	0.33818	B	0.000000	0.84330	D	0.047615	0.995987	0.42956	D	1.675	0.43121	L	1.65	0.27650	T	-1.49	0.36385	N	0.101	0.10198	-1.0841	0.06572	T	0.079	0.31405	T	10	0.26817843	0.44334	T	0.003537	0.08062	T	0.078	0.22779	0.51	0.60693	0.295974979623	0.29207	0.4884033981074137	0.48760	0.428454563186	0.43163	0.749545931816	0.74379	T	0.176913	0.52703	T	-0.212353	0.19049	T	-0.542807	0.18023	T	0.808273255825043	0.46925	D	0.907909	0.67446	D	0.3590222	0.57761	0.31158972	0.57164	0.3590222	0.57761	0.31158972	0.57164	-5.481	0.44566	T	0.19441419139642585	0.25615	0.200	0.42390	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.375652	0.46671	22.3	0.99019889572315856	0.50548	0.89319	0.49712	D	AEFBI	0.554674	0.56542	D	0.0954544814361946	0.46251	2.86833	0.256210739684618	0.53002	3.471572	0.999999996671057	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.527494	0.11647	0	0.530356	0.10902	0	.	.	5.03	5.03	0.67015	5.673000	0.67781	7.715000	0.67011	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.912	0.92461	847	0.35998	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	803.33	33	chr15	38516315	.	C	T	803.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.931;DP=704;ExcessHet=0;FS=0.831;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.8;ReadPosRankSum=0.259;SOR=0.811	GT:AD:DP:GQ:PL	0/1:48,34:82:99:817,0,1199	18	0	1	0
chr15	41868553	41868553	C	T	exonic	SPTBN5	.	nonsynonymous SNV	SPTBN5:NM_016642:exon33:c.G5902A:p.V1968M	.	404	1112	6	0	0	6	0.00269058	.	.	.	703177	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.019	0.00579706098648	0.0057	0.00179712	0.0059	0.0009	0.0029	0	0.0067	0.0091	0.0058	0.0012	0.0056726	877	154602	rs139560192	0.0072	0.0072	0.0074	0.0071	0.0079	0.0071	0.0071	0.0078	0.0077	0.0009	0.0035	0.0258	2.519e-05	0.0048	0.0059	0.0079	0.0079	0.0015	0.0056	0.0056	0.0058	0.0054	0.0084	0.0053	0.0052	0.0078	0.0076	0.0013	0	0.0035	0.0236	0	0.0069	0	0.0084	0.0038	0.0027	0.264	0.16358	T	0.049	0.48336	D	0.012	0.16265	B	0.022	0.19653	B	0.515285	0.05170	N	1.435670	1	0.08975	N	1.445	0.36358	L	0.78	0.49358	T	-0.38	0.13418	N	0.1	0.08227	-1.0444	0.16000	T	0.056	0.23527	T	10	0.0032605827	0.00056	T	0.005797	0.15072	T	0.019	0.03383	.	.	0.335661160332	0.33175	0.08446922563517725	0.08380	.	.	0.275646686554	0.06893	T	0.012695	0.11113	T	-0.65515	0.00067	T	-0.708445	0.05376	T	0.000853579730319362	0.00008	T	0.460954	0.13351	T	0.027796471	0.02022	0.03812441	0.03613	0.027796471	0.02022	0.03812441	0.03612	-3.189	0.12346	T	.	.	0.118	0.24260	B	.	.	0.578690	0.09469	6.250	0.85662614522430602	0.16033	0.02180	0.06383	N	AEFDGBI	0.035139	0.04473	N	-1.58498986784729	0.01341	0.05843489	-1.5766567850945	0.01799	0.08188516	0.925645642465343	0.26823	0.562547	0.31514	0	0.59043	0.45803	0	0.576033	0.28219	0	0.635551	0.53088	0	.	.	4.85	0.076	0.13714	-0.015000	0.12572	-0.153000	0.11399	-0.791000	0.03245	0.000000	0.06391	0.000000	0.08366	0.023000	0.12082	0.1314:0.4815:0.0:0.3871	5.484	0.16030	196	0.92420	.	OIP5-AS1	Esophagus_Muscularis	.	.	.	Likely benign	0	0	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	0.002533	0.000000	0.000000	0.002976	0.000000	0.000000	0.009202	0.000000	0.02632	958.33	37	chr15	41868553	.	C	T	958.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.543;DP=779;ExcessHet=0;FS=3.999;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.88;ReadPosRankSum=0.073;SOR=0.366	GT:AD:DP:GQ:PL	0/1:56,41:97:99:972,0,1528	18	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	0.05263	4954.83	35	chr15	58772221	.	C	T	4954.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.996;DP=996;ExcessHet=0.119;FS=8.606;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.43;ReadPosRankSum=-0.267;SOR=1.075	GT:AD:DP:GQ:PL	0/1:78,93:171:99:2660,0,2160	17	0	2	0
chr15	65579491	65579491	C	T	exonic	INTS14	.	nonsynonymous SNV	INTS14:NM_001207059:exon11:c.G1237A:p.G413S,INTS14:NM_001136043:exon12:c.G1237A:p.G413S,INTS14:NM_001207058:exon12:c.G1324A:p.G442S,INTS14:NM_001366360:exon12:c.G1474A:p.G492S,INTS14:NM_001366364:exon12:c.G1237A:p.G413S,INTS14:NM_001366365:exon12:c.G1237A:p.G413S	.	431	1088	3	0	0	3	0.00137678	.	.	.	4150881	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.050	0.00539385997063	.	.	2.472e-05	0	0	0	0	0	0.0033	0	2.59e-05	4	154602	rs770640770	3.762e-05	3.762e-05	3.947e-05	3.575e-05	0.0005	2.959e-05	2.655e-05	0.0001	7.541e-05	0	4.472e-05	0	0	1.872e-05	0.0005	3.507e-05	0.0001	3.478e-05	7.885e-05	8.537e-05	8.993e-05	6.725e-05	0.0001	4.497e-05	3.512e-05	7.908e-05	5.993e-05	0	0	0	0	0	0	0	0.0001	0.0010	0	0.209	0.23541	T	0.417	0.16182	T	0.688	0.48942	P	0.054	0.37636	B	0.000110	0.50451	N	0.208104	0.982491	0.39899	D	.	.	.	.	.	.	0.21	0.04776	N	0.144	0.21056	-1.0784	0.07661	T	0.073	0.29578	T	9	0.12087405	0.22902	T	0.005394	0.13832	T	0.050	0.13987	0.249	0.18602	0.351614576976	0.34778	.	.	0.31420449352	0.33701	0.575469911098	0.49448	T	0.012087	0.10683	T	-0.203161	0.20349	T	-0.421946	0.30852	T	0.13593102991581	0.15920	T	0.886611	0.61335	D	0.17663644	0.38586	0.096670605	0.22978	0.17663644	0.38586	0.096670605	0.22977	-2.412	0.05207	T	.	.	0.088	0.22789	B	.;.;.;.;.;.	.;.;.;.;.;.	2.025031	0.25732	16.87	0.99572970413487183	0.72501	0.90982	0.52631	D	AEFDGBHCI	0.405996	0.47866	N	-0.198664450320772	0.33191	1.880201	-0.138790132977373	0.33843	1.940208	0.999999988256585	0.74766	0.722319	0.85440	0	0.702456	0.74545	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	5.44	3.55	0.39770	2.655000	0.46372	2.724000	0.34335	0.549000	0.26987	0.983000	0.35670	0.993000	0.31925	0.470000	0.28341	0.0:0.8576:0.0:0.1424	11.915	0.52045	599	0.68140	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1228.33	34	chr15	65579491	.	C	T	1228.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.058;DP=753;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.15;ReadPosRankSum=-0.424;SOR=0.645	GT:AD:DP:GQ:PL	0/1:69,52:121:99:1242,0,1777	18	0	1	0
chr15	65912122	65912122	G	T	exonic	MEGF11	.	nonsynonymous SNV	MEGF11:NM_001385032:exon20:c.C2549A:p.T850N,MEGF11:NM_001385028:exon21:c.C2789A:p.T930N,MEGF11:NM_001385029:exon21:c.C2789A:p.T930N	.	927	592	2	1	0	4	0.003367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs534261465	0.0002	0.0002	0.0002	0.0003	0.0036	0.0002	0.0002	0.0029	0.0027	4.354e-05	0.0001	0	0	0	0.0010	0.0002	0.0004	0.0036	0.0002	0.0002	0.0001	0.0003	0.0039	0.0001	0.0001	0.0026	0.0021	2.407e-05	0	6.533e-05	0	0	0	0	0.0001	0.0005	0.0039	.	.	.	0.54	0.09760	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.254	0.28732	.	.	.	.	.	.	.	0.050501853	0.04793	T	.	.	.	.	.	.	.	0.664198360774	0.66137	.	.	.	.	.	.	.	.	.	.	-0.028787	0.47593	T	-0.279127	0.46894	T	.	.	.	0.721228	0.33447	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.10691	B	.	.	2.090774	0.26594	17.17	0.84574064120725678	0.15371	0.94592	0.61669	D	AEFBI	.	.	.	.	.	.	.	.	.	0.806499887770322	0.24279	0.085967	0.02239	2	0.104858	0.03167	0	0.174137	0.04171	1	0.089874	0.02613	0	0.421635	0.38078	3.78	1.77	0.23848	1.890000	0.39362	5.314000	0.48272	-0.148000	0.12190	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.6131:0.3869:0.0	12.936	0.57709	186	0.92733	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1219.33	35	chr15	65912122	.	G	T	1219.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.662;DP=718;ExcessHet=0;FS=2.837;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.86;ReadPosRankSum=0.013;SOR=0.453	GT:AD:DP:GQ:PL	0/1:36,52:88:99:1233,0,869	18	0	1	0
chr15	66326260	66326260	C	G	exonic	DIS3L	.	nonsynonymous SNV	DIS3L:NM_001323937:exon11:c.C1719G:p.S573R,DIS3L:NM_001323940:exon11:c.C987G:p.S329R,DIS3L:NM_001323943:exon11:c.C987G:p.S329R,DIS3L:NM_001323948:exon11:c.C1917G:p.S639R,DIS3L:NM_001143688:exon12:c.C2097G:p.S699R,DIS3L:NM_001323936:exon12:c.C1848G:p.S616R,DIS3L:NM_001323938:exon12:c.C1695G:p.S565R,DIS3L:NM_001323941:exon12:c.C1695G:p.S565R,DIS3L:NM_001323944:exon12:c.C2046G:p.S682R,DIS3L:NM_001323945:exon12:c.C1848G:p.S616R,DIS3L:NM_001323946:exon12:c.C1695G:p.S565R,DIS3L:NM_133375:exon12:c.C1848G:p.S616R,DIS3L:NM_001323939:exon13:c.C1695G:p.S565R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00807237602779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.37e-06	7.595e-05	1.363e-06	1.376e-06	1.801e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.801e-06	0	0	0	1.315e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.155	0.25355	T	0.353	0.17320	T	0.029	0.19866	B	0.033	0.22329	B	0.055829	0.22610	N	0.539436	0.999548	0.47497	D	-0.285	0.03692	N	1.3	0.35590	T	-1.92	0.44657	N	0.196	0.22228	-1.0764	0.08063	T	0.043	0.18618	T	10	0.08429423	0.14113	T	0.008072	0.21393	T	0.025	0.05312	0.424	0.46857	0.500994481783	0.49735	0.48282530288770603	0.48202	0.189759959303	0.21295	0.441389143467	0.30767	T	0.019826	0.15725	T	-0.2058	0.19975	T	-0.533394	0.18948	T	0.371591597795486	0.27858	T	0.811819	0.46320	T	0.13266377	0.30883	0.17544033	0.40009	0.13266377	0.30882	0.17544033	0.40008	-9.64	0.71728	D	.	.	0.195	0.42820	B	.;.	.;.	2.006311	0.25495	16.78	0.99354999151066503	0.60738	0.93367	0.58027	D	AEFBI	0.310496	0.41649	N	-0.52080163687102	0.21409	1.135919	-0.344169861240159	0.26690	1.475863	0.235350875039061	0.18512	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.4	2.44	0.28875	0.637000	0.24348	0.590000	0.19811	0.581000	0.30040	0.997000	0.40164	0.998000	0.33993	0.995000	0.73285	0.0:0.5695:0.1341:0.2964	5.619	0.16725	644	0.63734	.;Ribonuclease II/R|Ribonuclease II/R	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1579	465.41	41	chr15	66326260	.	C	G	465.41	.	AC=6;AF=0.158;AN=38;BaseQRankSum=-4.097;DP=1369;ExcessHet=2.0135;FS=270.804;InbreedingCoeff=-0.1865;MLEAC=6;MLEAF=0.158;MQ=60;MQRankSum=0;QD=0.79;ReadPosRankSum=0.58;SOR=10.26	GT:AD:DP:GQ:PL	0/1:82,26:108:99:117,0,2185	13	0	6	0
chr15	73323118	73323118	C	A	exonic	HCN4	.	nonsynonymous SNV	HCN4:NM_005477:exon8:c.G2975T:p.S992I	Brugada syndrome 8;Sick sinus syndrome 2, Autosomal dominant	0	1514	8	0	0	8	0.00263505	.	.	.	1924995	Brugada_syndrome_8	MONDO:MONDO:0013148,MedGen:C2751083,OMIM:613123,Orphanet:130	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.270	0.873803936335	.	.	6.508e-05	0	0	0	0	8.315e-05	0	0.0001	2.59e-05	4	154602	rs754083717	1.179e-05	1.505e-05	1.239e-05	1.118e-05	2.405e-05	7.18e-06	5.87e-06	7.36e-06	5.76e-06	0	0	0	0	0	0	1.268e-05	1.685e-05	2.405e-05	6.578e-06	6.566e-06	1.286e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.077	0.34095	T	0.061	0.45530	T	0.139	0.27501	B	0.039	0.23607	B	.	.	.	.	1	0.08975	N	0.895	0.22405	L	-4.4	0.97419	D	-0.63	0.18459	N	0.249	0.28146	0.173	0.85449	D	0.770	0.92178	D	9	0.27109748	0.44645	T	0.873804	0.99036	D	0.270	0.58507	0.235	0.16457	0.754999209091	0.75278	0.5895137345825351	0.58881	0.207488726263	0.23208	0.88447368145	0.94555	D	0.317682	0.68911	T	-0.0510065	0.44293	T	-0.183265	0.56219	T	0.0235589902848631	0.01091	T	0.488651	0.14976	T	0.068982296	0.15076	0.08415965	0.19340	0.068982296	0.15076	0.08415965	0.19340	-6.398	0.49494	T	.	.	0.124	0.25946	B	.	.	0.702727	0.10717	7.407	0.82049608235218319	0.13993	0.12569	0.17348	N	AEFDBI	0.294580	0.40491	N	-0.731731627281177	0.15133	0.7600548	-0.75593977233045	0.15577	0.8199047	0.984973367323464	0.30805	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	2.76	2.76	0.31527	0.294000	0.18803	1.484000	0.26842	-0.254000	0.07082	0.000000	0.06391	0.066000	0.22130	0.004000	0.06068	0.0:1.0:0.0:0.0	11.750	0.51111	649	0.63102	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3335.33	48	chr15	73323118	.	C	A	3335.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.304;DP=1722;ExcessHet=0;FS=1.655;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.96;ReadPosRankSum=-0.042;SOR=0.817	GT:AD:DP:GQ:PL	0/1:92,131:223:99:3349,0,2322	18	0	1	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	.	.	.	.	.	.	.	.	0.2632	208.08	25	chr15	77470925	.	G	C	208.08	.	AC=10;AF=0.263;AN=38;BaseQRankSum=-2.769;DP=1005;ExcessHet=6.9875;FS=372.888;InbreedingCoeff=-0.3311;MLEAC=9;MLEAF=0.237;MQ=60;MQRankSum=0;QD=0.37;ReadPosRankSum=0.707;SOR=10.607	GT:AD:DP:GQ:PL	0/1:35,12:47:4:4,0,891	9	0	10	0
chr15	81299820	81299820	-	CCT	exonic	IL16	.	nonframeshift insertion	IL16:NM_004513:exon2:c.391_392insCCT:p.S137_I138insS,IL16:NM_001172128:exon14:c.2494_2495insCCT:p.S838_I839insS,IL16:NM_001352686:exon14:c.2647_2648insCCT:p.S889_I890insS,IL16:NM_172217:exon14:c.2494_2495insCCT:p.S838_I839insS,IL16:NM_001352684:exon15:c.664_665insCCT:p.S228_I229insS,IL16:NM_001352685:exon15:c.1984_1985insCCT:p.S668_I669insS	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.000599042	6.775e-05	0.0002	8.84e-05	0.0001	0	6.152e-05	0	0	0.0001537	4	26028	rs568968641	4.927e-05	5.13e-05	4.221e-05	5.64e-05	0.0002	3.994e-05	3.671e-05	9.752e-05	6.952e-05	0.0002	0.0002	0	7.559e-05	0	0	4.678e-05	0	3.479e-05	6.576e-05	6.565e-05	3.86e-05	9.416e-05	0.0002	3.519e-05	2.618e-05	4.735e-05	3.05e-05	0.0001	0	0	0	0.0002	0	0	5.886e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1708.29	33	chr15	81299820	.	G	GCCT	1708.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.18;DP=832;ExcessHet=0;FS=2.57;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.91;ReadPosRankSum=-0.085;SOR=0.476	GT:AD:DP:GQ:PL	0/1:55,46:101:99:1722,0,2172	18	0	1	0
chr15	88530840	88530840	T	C	exonic	DET1	.	nonsynonymous SNV	DET1:NM_001144074:exon2:c.A866G:p.D289G,DET1:NM_001321596:exon3:c.A866G:p.D289G,DET1:NM_017996:exon3:c.A899G:p.D300G,DET1:NM_001321594:exon4:c.A764G:p.D255G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.318	0.00613817741382	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.51853	D	0.009	0.66756	D	0.505	0.37231	P	0.27	0.39872	B	0.000016	0.62929	D	0.152324	0.999966	0.81001	D	1.385	0.34509	L	.	.	.	-3.25	0.65283	D	0.479	0.51672	-0.7606	0.57373	T	0.199	0.55428	T	9	0.52906257	0.63078	D	0.006138	0.16082	T	0.318	0.64008	0.456	0.52102	0.0675242888579	0.06100	0.595297197239194	0.59459	0.736621479123	0.63016	0.657280743122	0.61021	T	0.425961	0.77591	T	0.0656937	0.60321	T	-0.143412	0.59821	T	0.961599886417389	0.66126	D	0.915108	0.69728	D	0.35442662	0.57409	0.35527286	0.61058	0.35442662	0.57409	0.35527286	0.61057	-3.559	0.17871	T	.	.	0.422	0.62236	A	.;.;.;.	.;.;.;.	3.993478	0.58790	24.0	0.9968250448962318	0.79373	0.98529	0.83755	D	AEFBI	0.844511	0.76147	D	0.374329023459271	0.60035	4.188161	0.514087085182772	0.68935	5.28951	0.999999999890716	0.74766	0.651	0.46895	0	0.546412	0.12157	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	6.17	6.17	0.99707	7.279000	0.77969	7.849000	0.70877	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.003	0.80122	882	0.29131	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1944	635.01	117	chr15	88530840	.	T	C	635.01	.	AC=7;AF=0.194;AN=36;BaseQRankSum=-3.068;DP=1914;ExcessHet=2.9153;FS=131.31;InbreedingCoeff=-0.2406;MLEAC=7;MLEAF=0.194;MQ=60;MQRankSum=0;QD=0.76;ReadPosRankSum=0.803;SOR=11.121	GT:AD:DP:GQ:PL	0/1:105,29:134:99:152,0,2419	11	0	7	1
chr15	88856695	88856695	G	C	exonic	ACAN	.	nonsynonymous SNV	ACAN:NM_001135:exon12:c.G4110C:p.E1370D,ACAN:NM_001369268:exon12:c.G4110C:p.E1370D,ACAN:NM_013227:exon12:c.G4110C:p.E1370D	Osteochondritis dissecans, short stature, and early-onset osteoarthritis, Autosomal dominant;Spondyloepimetaphyseal dysplasia, aggrecan type;Spondyloepiphyseal dysplasia, Kimberley type, Autosomal dominant	523	998	1	0	0	1	0.000500751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.307	0.110388302223	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.583	0.06282	T	0.497	0.11371	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	2.76	0.80626	M	-3.9	0.96015	D	-0.04	0.10308	N	0.086	0.06990	0.192	0.85771	D	0.835	0.94465	D	9	0.12930837	0.24603	T	0.110388	0.78775	D	0.307	0.62838	0.191	0.10171	0.123314135267	0.11883	0.03146845250176042	0.03095	0.461946301009	0.45731	0.548612296581	0.45662	T	0.151324	0.49121	T	-0.036408	0.46481	T	-0.290074	0.45765	T	0.114967471681493	0.13931	T	0.584142	0.21304	T	0.03604188	0.04359	0.036033906	0.02971	0.03604188	0.04359	0.036033906	0.02971	-8.423	0.64739	D	0.12696733737914193	0.12916	0.571	0.67932	P	.;.;.;.;.;.	.;.;.;.;.;.	0.772006	0.11419	8.029	0.88272561369902525	0.17848	0.06001	0.11965	N	AEFBI	0.092321	0.18692	N	-0.621249408424883	0.18307	0.949379	-0.847241369926484	0.13353	0.692294	0.00475072818855355	0.10696	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	3.84	0.701	0.17263	-1.042000	0.03649	-15.477000	0.00355	-1.558000	0.00952	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2605:0.0:0.462:0.2775	3.887	0.08606	968	0.07033	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	863.54	37	chr15	88856695	.	G	C	863.54	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.373;DP=429;ExcessHet=0;FS=3.928;InbreedingCoeff=-0.0403;MLEAC=1;MLEAF=0.026;MQ=38.19;MQRankSum=-1.243;QD=8.81;ReadPosRankSum=3.12;SOR=0.392	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:56,42:98:99:0|1:88856695_G_C:877,0,1979:88856695	18	0	1	0
chr15	88856755	88856755	C	G	exonic	ACAN	.	nonsynonymous SNV	ACAN:NM_001135:exon12:c.C4170G:p.D1390E,ACAN:NM_001369268:exon12:c.C4170G:p.D1390E,ACAN:NM_013227:exon12:c.C4170G:p.D1390E	Osteochondritis dissecans, short stature, and early-onset osteoarthritis, Autosomal dominant;Spondyloepimetaphyseal dysplasia, aggrecan type;Spondyloepiphyseal dysplasia, Kimberley type, Autosomal dominant	107	1372	25	2	16	45	0.010458	.	.	.	1683568	not_provided|Spondyloepimetaphyseal_dysplasia,_aggrecan_type|Spondyloepiphyseal_dysplasia,_Kimberley_type|Short_stature_and_advanced_bone_age,_with_or_without_early-onset_osteoarthritis_and/or_osteochondritis_dissecans	MedGen:C3661900|MONDO:MONDO:0013014,MedGen:C2748544,OMIM:612813,Orphanet:171866|MONDO:MONDO:0012019,MedGen:C1842149,OMIM:608361,Orphanet:93283|MONDO:MONDO:0100462,MedGen:C3665488,OMIM:165800,Orphanet:251262	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.258	.	.	0.0443291	0	0	0	0	0	0	0	0	0.0094129	245	26028	rs201822759	0.0069	0.0061	0.0067	0.0071	0.0094	0.0068	0.0067	0.0074	0.0073	0.0031	0.0076	0.0062	0.0032	0.0045	0.0094	0.0076	0.0094	0.0033	0.0097	0.0095	0.0110	0.0084	0.0168	0.0091	0.0088	0.0156	0.0151	0.0048	0	0.0073	0.0039	0.0019	0.0014	0.0254	0.0168	0.0076	0.0005	0.137	0.26852	T	0.662	0.08161	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.24	0.30952	L	-3.98	0.96277	D	-0.48	0.21003	N	0.048	0.01999	0.043	0.83110	D	0.738	0.91058	D	9	0.0042357147	0.00085	T	.	.	.	0.258	0.56959	0.349	0.34598	0.117191471859	0.11215	0.02303425850539713	0.02255	0.236098789553	0.26144	0.573864936829	0.49224	T	0.153756	0.49474	T	-0.421962	0.01662	T	-0.377391	0.36028	T	0.00696940099352424	0.00079	T	0.367163	0.11156	T	0.05131588	0.09407	0.031162793	0.01666	0.038783524	0.05234	0.035093628	0.02695	-6.186	0.47809	T	0.12615419190264415	0.12685	0.596	0.69078	P	.;.;.;.;.;.	.;.;.;.;.;.	-0.434138	0.02088	0.195	0.28414234301936492	0.01458	0.01166	0.04198	N	AEFBI	0.057259	0.10651	N	-1.18282007972721	0.05260	0.2393459	-1.38965550116176	0.03361	0.1566345	0.191794391933606	0.18009	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	3.52	-5.17	0.02632	-3.240000	0.00602	-20.000000	0.00162	-0.418000	0.05239	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.1206:0.2762:0.3565:0.2467	2.086	0.03424	968	0.07033	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.076163	0.201220	0.067449	0.075221	0.100000	0.018182	0.065068	0.039370	0.05882	6336.94	37	chr15	88856755	.	C	G	6336.94	.	AC=2;AF=0.059;AN=34;BaseQRankSum=0.377;DP=1362;ExcessHet=0;FS=3.416;InbreedingCoeff=0.6162;MLEAC=2;MLEAF=0.059;MQ=46.77;MQRankSum=-0.489;QD=15.34;ReadPosRankSum=1.33;SOR=0.544	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:140,122:262:99:1|0:88856695_G_C:2750,0,2864:88856695	15	0	2	2
chr15	89776915	89776915	G	0	exonic	MESP2	.	.	.	Spondylocostal dysostosis 2, autosomal recessive	164	151	35	35	1137	1242	0.257985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9118	2087.72	45	chr15	89776915	.	G	*	2087.72	.	AC=31;AF=0.912;AN=34;DP=1075;ExcessHet=0;FS=0;InbreedingCoeff=0.4414;MLEAC=32;MLEAF=0.941;MQ=60;QD=3.01;SOR=0.704	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,61:61:99:.:.:2645,185,0:.	1	15	1	2
chr15	94470358	94470358	C	T	exonic	MCTP2	.	nonsynonymous SNV	MCTP2:NM_001385010:exon18:c.C1723T:p.L575F,MCTP2:NM_001385004:exon19:c.C2221T:p.L741F,MCTP2:NM_001159643:exon20:c.C2221T:p.L741F,MCTP2:NM_001385005:exon20:c.C2344T:p.L782F,MCTP2:NM_001385006:exon20:c.C2263T:p.L755F,MCTP2:NM_001385009:exon20:c.C1888T:p.L630F,MCTP2:NM_001385001:exon21:c.C2386T:p.L796F,MCTP2:NM_001385003:exon21:c.C2386T:p.L796F,MCTP2:NM_001385002:exon22:c.C2386T:p.L796F,MCTP2:NM_018349:exon22:c.C2386T:p.L796F,MCTP2:NM_001385007:exon23:c.C2104T:p.L702F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.477	0.0514822312749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.992e-07	3.22e-06	1.834e-06	0	1.261e-06	0	0	.	.	0	0	0	0	0	0	1.261e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.91255	D	0.004	0.74150	D	1.0	0.90584	D	0.996	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.4	0.91674	M	-0.5	0.70480	T	-3.47	0.70432	D	0.801	0.81658	0.340	0.88184	D	0.613	0.86322	D	10	0.73406565	0.74497	D	0.051482	0.64680	D	0.477	0.76881	0.39	0.41279	0.565975473979	0.56261	0.8005047111672872	0.80004	0.15916760332	0.17961	0.610159814358	0.54339	T	0.195416	0.55150	T	0.329093	0.85099	D	0.234943	0.84904	D	0.992740094661713	0.83306	D	0.988589	0.96450	D	0.8139349	0.84814	0.77263886	0.86580	0.8139349	0.84815	0.77263886	0.86581	-10.781	0.78443	D	.	.	0.430	0.66484	A	.;.	.;.	4.178983	0.62890	24.5	0.99898197772616448	0.97048	0.85441	0.44574	D	AEFI	0.389425	0.46865	N	0.764910667749622	0.83871	8.132646	0.701203820979391	0.82471	7.774978	0.368036207059284	0.19842	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.32	5.32	0.75377	2.441000	0.44522	5.945000	0.51547	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.968000	0.53726	0.0:1.0:0.0:0.0	19.381	0.94526	970	0.06235	.;Phosphoribosyltransferase C-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	.	.	.	.	.	.	.	.	0.0625	1488.59	64	chr15	94470358	.	C	T	1488.59	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-1.154;DP=1070;ExcessHet=0.8031;FS=279.923;InbreedingCoeff=-0.3361;MLEAC=2;MLEAF=0.125;MQ=60;MQRankSum=0;QD=4.86;ReadPosRankSum=2.44;SOR=9.825	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:51,27:78:99:0|1:94470354_C_G:229,0,1394:94470354	7	0	1	11
chr16	271441	271441	G	A	exonic	RGS11	.	nonsynonymous SNV	RGS11:NM_001286486:exon9:c.C155T:p.A52V,RGS11:NM_001286485:exon10:c.C674T:p.A225V,RGS11:NM_003834:exon11:c.C644T:p.A215V,RGS11:NM_183337:exon11:c.C707T:p.A236V	.	421	1093	8	0	0	8	0.00364631	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.329	0.057372665871	0.0006	.	0.0004	0.0002	8.672e-05	0.0001	0	0.0007	0	0.0001	0.0004463	69	154602	rs141912967	0.0006	0.0006	0.0006	0.0005	0.0024	0.0005	0.0005	0.0015	0.0012	0.0002	0.0002	0.0003	2.519e-05	5.647e-05	0.0024	0.0006	0.0007	0.0002	0.0004	0.0004	0.0005	0.0003	0.0007	0.0003	0.0003	0.0006	0.0005	0.0002	0	0.0001	0	0	0	0	0.0007	0.0014	0	0.015	0.59928	D	0.084	0.62352	T	1.0	0.90584	D	0.986	0.76916	D	0.005232	0.32979	N	0.283080	0.999991	0.58761	D	3.145	0.88303	M	1.89	0.23688	T	-3.13	0.63901	D	0.539	0.57860	-0.6555	0.62473	T	0.199	0.55527	T	10	0.37853557	0.54018	T	0.057373	0.66942	D	0.329	0.65126	.	.	0.582387198248	0.57910	0.5535523581478102	0.55281	0.412393024737	0.41979	0.450259894133	0.31979	T	0.31512	0.68675	T	-0.25891	0.13028	T	-0.235038	0.51282	T	0.120008997619152	0.14431	T	0.912709	0.70062	D	0.22405499	0.45039	0.16093935	0.37459	0.22405499	0.45039	0.16093935	0.37458	-7.078	0.54602	T	.	.	0.128	0.31253	B	.;.;.	.;.;.	3.319846	0.45653	22.2	0.99827562634835176	0.90939	0.98221	0.80666	D	AEFDBI	0.738560	0.68339	D	0.481977617537559	0.66037	4.898688	0.33218469847725	0.57440	3.909757	0.999999999518942	0.74766	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.655142	0.61905	0	.	.	5.04	5.04	0.67293	5.186000	0.64918	7.942000	0.75525	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.007000	0.07825	0.0:0.0:1.0:0.0	17.351	0.87213	737	0.53483	G-protein gamma-like domain|G-protein gamma-like domain|G-protein gamma-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	0.002518	0.000000	0.000000	0.000000	0.000000	0.008621	0.006098	0.007576	0.05263	3202.83	33	chr16	271441	.	G	A	3202.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.9;DP=924;ExcessHet=0.119;FS=1.966;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.08;ReadPosRankSum=0.779;SOR=0.825	GT:AD:DP:GQ:PL	0/1:77,77:154:99:1953,0,1858	17	0	2	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	0.02632	1655.33	34	chr16	426430	.	C	G	1655.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.182;DP=772;ExcessHet=0;FS=2.138;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.34;ReadPosRankSum=0.19;SOR=0.504	GT:AD:DP:GQ:PL	0/1:74,72:146:99:1669,0,1926	18	0	1	0
chr16	1397277	1397277	A	0	exonic	UNKL	.	.	.	.	28	20	70	25	83	203	0.75	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5357	10029.7	66	chr16	1397277	.	A	*	10029.7	.	AC=15;AF=0.536;AN=28;BaseQRankSum=-1.758;DP=1398;ExcessHet=0.25;FS=0;InbreedingCoeff=0.1529;MLEAC=18;MLEAF=0.643;MQ=59.46;MQRankSum=-1.388;QD=12.54;ReadPosRankSum=2.26;SOR=0.628	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,45:45:99:.:.:1650,151,0:.	4	5	5	5
chr16	1397281	1397281	G	0	exonic	UNKL	.	.	.	.	375	758	197	191	1	580	0.276372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3824	667.98	41	chr16	1397281	.	G	*	667.98	.	AC=13;AF=0.382;AN=34;DP=1054;ExcessHet=0.0009;FS=0;InbreedingCoeff=0.6222;MLEAC=14;MLEAF=0.412;MQ=59.33;QD=1.62;SOR=0.751	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,45:45:99:.:.:1650,151,0:.	9	5	3	2
chr16	1460420	1460420	C	G	exonic	CLCN7	.	nonsynonymous SNV	CLCN7:NM_001114331:exon5:c.G520C:p.E174Q,CLCN7:NM_001287:exon6:c.G592C:p.E198Q	Osteopetrosis, autosomal dominant 2, Autosomal dominant;Osteopetrosis, autosomal recessive 4	0	1520	2	0	0	2	0.000657462	0.8231	0.726	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.668	0.176008223092	.	.	8.298e-06	0	0	0	0	1.512e-05	0	0	6.5e-06	1	154602	rs374764558	6.85e-07	6.84e-07	1.363e-06	0	9.004e-07	0	0	.	.	0	0	0	0	0	0	9.004e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.48642	D	0.103	0.40267	T	0.984	0.60733	D	0.773	0.56974	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.385	0.68708	M	-1.59	0.82076	D	-1.53	0.41239	N	0.828	0.82358	0.291	0.87409	D	0.611	0.86237	D	10	0.79356027	0.78870	D	0.176008	0.85191	D	0.668	0.87674	0.692	0.82938	0.755794672329	0.75358	0.8644127495211604	0.86405	0.722380118877	0.62274	0.698100566864	0.66870	T	0.760037	0.93492	D	0.220236	0.75798	D	0.0785773	0.75482	D	0.74440860748291	0.42976	D	0.888211	0.67374	D	0.71007276	0.78611	0.31559247	0.57544	0.71007276	0.78612	0.31559247	0.57543	-11.56	0.82642	D	.	.	0.386	0.70048	A	.;.;.;.	.;.;.;.	5.176064	0.86775	29.0	0.99741678126644095	0.83555	0.99545	0.97286	D	AEFBI	0.955829	0.97395	D	0.44222057848535	0.63762	4.616407	0.43308342616697	0.63637	4.601586	0.999999993800138	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.8	4.8	0.61157	7.474000	0.80024	7.505000	0.59540	0.528000	0.24546	1.000000	0.71638	1.000000	0.68203	0.513000	0.29313	0.0:1.0:0.0:0.0	16.424	0.83648	784	0.47045	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	728.33	37	chr16	1460420	.	C	G	728.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.166;DP=718;ExcessHet=0;FS=0.922;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.87;ReadPosRankSum=-0.182;SOR=0.554	GT:AD:DP:GQ:PL	0/1:36,31:67:99:742,0,969	18	0	1	0
chr16	2165882	2165882	A	G	exonic	TRAF7	.	nonsynonymous SNV	TRAF7:NM_032271:exon3:c.A85G:p.R29G	.	414	1107	1	0	0	1	0.000451467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188	0.030951922472	.	0.00119808	0.0006	0	0	0.0082	0	0	0	0	0.0004981	77	154602	rs77497016	0.0003	0.0003	0.0003	0.0003	0.0115	0.0003	0.0003	0.0106	0.0103	0	0	0	0.0115	0	0	1.799e-06	0.0001	1.159e-05	0.0002	0.0002	0.0002	0.0002	0.0054	0.0001	0.0001	0.0038	0.0033	0	0	0	0	0.0054	0	0	0	0	0.0002	0.017	0.61437	D	0.048	0.92824	D	0.361	0.33905	B	0.075	0.28327	B	0.000009	0.62929	D	0.108809	0.99985	0.49910	D	0.695	0.17993	N	1.52	0.30669	T	-0.61	0.42575	N	0.75	0.80278	-1.0983	0.04303	T	0.042	0.18243	T	10	0.0077515244	0.00176	T	0.030952	0.53145	D	0.188	0.46444	.	.	0.325533332567	0.32158	0.3549238182242179	0.35406	0.0223116753289	0.02243	0.64713293314	0.59578	T	0.109219	0.42290	T	-0.403062	0.02211	T	-0.348997	0.39319	T	0.143215911742393	0.16548	T	0.885811	0.61165	D	0.1269471	0.29721	0.15346025	0.36059	0.113841444	0.26881	0.109014824	0.26268	-3.275	0.13417	T	.	.	0.294	0.65024	B	.;.;.	.;.;.	3.815964	0.55073	23.6	0.98898973184893224	0.48145	0.99492	0.96688	D	AEFGBI	0.942974	0.94822	D	0.0580102982167459	0.44511	2.723878	0.18323967940762	0.48929	3.102402	0.99999999987879	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.17	5.17	0.70848	7.812000	0.84643	10.980000	0.84596	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	0.817000	0.38496	1.0:0.0:0.0:0.0	14.185	0.65143	588	0.69043	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2819.33	42	chr16	2165882	.	A	G	2819.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.747;DP=946;ExcessHet=0;FS=0.479;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.1;ReadPosRankSum=0.31;SOR=0.744	GT:AD:DP:GQ:PL	0/1:116,117:233:99:2833,0,3211	18	0	1	0
chr16	11491841	11491841	G	A	exonic	LOC400499	.	nonsynonymous SNV	LOC400499:NM_001370704:exon13:c.C1589T:p.S530L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0	0	0	0	0	0	0	7.68e-05	2	26028	rs566917404	0.0006	0.0003	0.0005	0.0007	0.0008	0.0005	0.0005	0.0001	9.349e-05	0	0.0001	0.0115	0	0	0.0008	0.0002	0.0010	0	0.0004	0.0004	0.0003	0.0004	0.0001	0.0003	0.0003	7.908e-05	5.994e-05	4.83e-05	0	6.548e-05	0.0115	0	0	0	0.0001	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033482254	0.01525	T	.	.	.	.	.	.	.	0.803898328446	0.80206	.	.	.	.	.	.	.	.	.	.	0.0494451	0.58272	T	-0.166752	0.57739	T	.	.	.	0.572243	0.20426	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.17615	B	.	.	2.943053	0.39137	20.9	0.91817507914591956	0.21126	0.78689	0.38861	D	AEFBCI	0.176122	0.30332	N	.	.	.	.	.	.	0.999895297797396	0.45129	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.13	4.13	0.47661	4.180000	0.58093	4.348000	0.43078	0.618000	0.50648	0.790000	0.29595	0.744000	0.26502	0.005000	0.06747	0.0:0.0:1.0:0.0	13.871	0.63119	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	.	.	.	.	.	.	.	.	0.02632	495.33	34	chr16	11491841	.	G	A	495.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.119;DP=677;ExcessHet=0;FS=1.154;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.26;ReadPosRankSum=-0.341;SOR=0.914	GT:AD:DP:GQ:PL	0/1:23,21:44:99:509,0,583	18	0	1	0
chr16	11927452	11927458	GCGGCCC	0	exonic	NPIPB2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	2995.78	34	chr16	11927452	.	GCGGCCC	*	2995.78	.	AC=5;AF=0.132;AN=38;BaseQRankSum=2.46;DP=1582;ExcessHet=2.0135;FS=1.863;InbreedingCoeff=-0.1875;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=3.11;ReadPosRankSum=-1.288;SOR=0.898	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:74,54:128:99:.:.:2016,0,2880:.	14	0	5	0
chr16	11927459	11927495	TCCGCCTCTTGGGTTCGGGTGGTGATTCCACCTCAGC	0	exonic	NPIPB2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	2954.78	34	chr16	11927459	.	TCCGCCTCTTGGGTTCGGGTGGTGATTCCACCTCAGC	*	2954.78	.	AC=5;AF=0.132;AN=38;BaseQRankSum=1.07;DP=1597;ExcessHet=2.0135;FS=2.628;InbreedingCoeff=-0.1875;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=3.02;ReadPosRankSum=-0.684;SOR=0.912	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:74,54:128:99:.:.:2016,0,2880:.	14	0	5	0
chr16	11927475	11927475	G	0	exonic	NPIPB2	.	.	.	.	1	10	87	120	8	335	0.942363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1579	65183.6	187	chr16	11927475	.	G	*	65183.6	.	AC=6;AF=0.158;AN=38;BaseQRankSum=1.94;DP=3186;ExcessHet=0.0151;FS=0.819;InbreedingCoeff=0.4571;MLEAC=6;MLEAF=0.158;MQ=59.99;MQRankSum=0;QD=21.88;ReadPosRankSum=-0.239;SOR=0.763	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:74,54:128:99:.:.:2016,0,2880:.	13	0	6	0
chr16	14667708	14667711	CCCC	-	exonic	BFAR	.	frameshift deletion	BFAR:NM_001330500:exon6:c.859_862del:p.P287Sfs*45,BFAR:NM_016561:exon8:c.1234_1237del:p.P412Sfs*45	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	1416.55	75	chr16	14667707	.	GCCCC	G	1416.55	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-0.548;DP=1073;ExcessHet=4.0268;FS=83.656;InbreedingCoeff=-0.2788;MLEAC=8;MLEAF=0.211;MQ=60;MQRankSum=0;QD=2.24;ReadPosRankSum=0.47;SOR=9.431	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:71,16:87:99:.:.:254,0,2718:.	11	0	8	0
chr16	14667711	14667711	-	GGGG	exonic	BFAR	.	frameshift insertion	BFAR:NM_001330500:exon6:c.862_863insGGGG:p.L288Rfs*19,BFAR:NM_016561:exon8:c.1237_1238insGGGG:p.L413Rfs*19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	1294.52	71	chr16	14667711	.	C	CGGGG	1294.52	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-0.478;DP=1124;ExcessHet=4.0268;FS=78.34;InbreedingCoeff=-0.2788;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=2.06;ReadPosRankSum=0.638;SOR=9.332	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:71,13:86:99:.:.:238,0,2720:.	15	0	4	0
chr16	14895568	14895568	G	A	exonic	NOMO1;NOMO3	.	nonsynonymous SNV	NOMO3:NM_001004067:exon31:c.G3592A:p.G1198S,NOMO1:NM_014287:exon31:c.G3592A:p.G1198S	.	459	1058	5	0	0	5	0.00235738	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.00907083542345	0.0015	0.000199681	0.0012	0.0005	0.0002	0	0.0009	0.0018	0	0.0006	0.0002689	7	26028	rs139332780	0.0010	0.0017	0.0010	0.0010	0.0015	0.0010	0.0010	0.0011	0.0011	0.0001	0.0002	0.0013	0	0.0006	0.0015	0.0012	0.0008	0.0007	0.0009	0.0011	0.0009	0.0009	0.0016	0.0008	0.0007	0.0013	0.0012	0.0004	0	6.533e-05	0.0014	0	0.0006	0	0.0016	0.0009	0	0.442	0.09209	T	0.129	0.37173	T	0.814	0.45487	P	0.084	0.29270	B	0.000144	0.49130	D	0.135750	0.995877	0.42900	D	-0.55	0.02420	N	0.91	0.44856	T	-0.79	0.21860	N	0.114	0.44952	-1.0364	0.18419	T	0.039	0.16892	T	10	0.01821217	0.00394	T	0.009071	0.23869	T	0.131	0.35738	.	.	0.234412748748	0.23057	0.47455732527731487	0.47374	.	.	0.839969575405	0.88090	D	0.006169	0.13458	T	-0.437624	0.01335	T	-0.426021	0.30387	T	0.0720483884215355	0.08936	T	0.949005	0.80370	D	0.07603423	0.17170	0.0763388	0.16897	0.07603423	0.17170	0.0763388	0.16897	-3.266	0.13302	T	.	.	0.083	0.14523	B	.;.;.	.;.;.	3.401619	0.47146	22.4	0.98860475316522922	0.47459	0.90139	0.51084	D	AEFDI	0.735214	0.68110	D	-0.29378377949484	0.29388	1.629242	-0.236956949069367	0.30223	1.699863	5.61278852036121E-5	0.04171	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	2.99	2.99	0.33673	5.508000	0.66725	11.535000	0.93106	0.306000	0.19039	1.000000	0.71638	1.000000	0.68203	0.205000	0.22041	0.0:0.0:1.0:0.0	11.815	0.51480	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	0.001678	0.000000	0.001374	0.004310	0.000000	0.008772	0.000000	0.000000	0.02632	994.33	42	chr16	14895568	.	G	A	994.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.71;DP=939;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=46.62;MQRankSum=-2.555;QD=4.56;ReadPosRankSum=-0.513;SOR=0.643	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:164,54:218:99:0|1:14895563_C_T:1008,0,5941:14895563	18	0	1	0
chr16	17108919	17108919	C	A	exonic	XYLT1	.	nonsynonymous SNV	XYLT1:NM_022166:exon12:c.G2656T:p.A886S	Desbuquois dysplasia 2, Autosomal recessive	422	1064	32	3	1	39	0.0175439	.	.	.	714761	Desbuquois_dysplasia_1|not_provided	MONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450,Orphanet:1425|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.097	.	7.7e-05	0.00359425	0.0027	0	0.0004	0	0	0.0003	0.0033	0.0182	0.0022768	352	154602	rs143481827	0.0012	0.0013	0.0007	0.0018	0.0173	0.0012	0.0012	0.0165	0.0162	9.01e-05	0.0005	0.0011	0	0	0.0051	0.0002	0.0015	0.0173	0.0006	0.0006	0.0005	0.0007	0.0139	0.0005	0.0005	0.0112	0.0103	9.631e-05	0	0.0002	0.0009	0	9.423e-05	0	0.0002	0	0.0139	0.23	0.18308	T	0.648	0.06788	T	0.15	0.27995	B	0.05	0.25278	B	0.000011	0.62929	D	0.148046	0.990808	0.41240	D	0.755	0.19153	N	3.56	0.04696	T	-0.67	0.19297	N	0.04	0.01347	-1.0114	0.26478	T	0.016	0.06569	T	10	0.0033008754	0.00057	T	.	.	.	0.097	0.27909	.	.	0.043077524339	0.03247	0.3574249685875818	0.35656	0.220247512809	0.24564	0.314023703337	0.12516	T	0.016125	0.13389	T	-0.594183	0.00158	T	-0.612654	0.11770	T	0.0229536096569432	0.01018	T	.	.	.	0.11340939	0.26784	0.079967186	0.18048	0.11340939	0.26783	0.079967186	0.18047	-3.691	0.19185	T	.	.	0.070	0.03661	B	.	.	1.804173	0.22934	15.82	0.97959810732574015	0.37165	0.68094	0.33673	D	AEFBCI	0.417601	0.48558	N	-0.402364478951305	0.25386	1.37768	-0.304166737494666	0.27964	1.555531	0.557709494384123	0.21387	0.634777	0.41761	0	0.694456	0.67091	0	0.643519	0.47002	0	0.564101	0.26826	0	.	.	5.81	3.87	0.43823	2.082000	0.41230	2.278000	0.31877	-0.172000	0.11096	0.523000	0.27135	0.980000	0.30356	0.993000	0.69303	0.0:0.8611:0.0:0.1389	12.041	0.52750	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	1	0	0	0	0	1	0	0.007049	0.005051	0.008152	0.002924	0.000000	0.008621	0.006098	0.011364	0.02632	2119.33	34	chr16	17108919	.	C	A	2119.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.2;DP=735;ExcessHet=0;FS=3.872;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=22.31;ReadPosRankSum=-0.219;SOR=0.816	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,56:95:99:0|1:17108919_C_A:2133,0,1349:17108919	18	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	0.05263	1129.83	36	chr16	22133009	.	G	A	1129.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.006;DP=786;ExcessHet=0.119;FS=0.655;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=8.31;ReadPosRankSum=-0.629;SOR=0.788	GT:AD:DP:GQ:PL	0/1:38,26:64:99:577,0,924	17	0	2	0
chr16	23102333	23102333	A	G	exonic	USP31	.	nonsynonymous SNV	USP31:NM_020718:exon6:c.T1220C:p.I407T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.237	0.0256117430824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.21385	T	0.18	0.29442	T	0.997	0.70673	D	0.932	0.66722	D	.	.	.	.	1	0.81001	D	1.67	0.42885	L	2.99	0.09262	T	0.51	0.02898	N	0.843	0.83885	-1.1154	0.02644	T	0.049	0.20868	T	9	0.7785554	0.77661	D	0.025612	0.48570	D	0.237	0.54074	0.546	0.66015	0.724231701982	0.72178	0.5290314476169267	0.52827	0.946334139909	0.72422	0.814740777016	0.84220	D	0.004558	0.03968	T	0.00952393	0.52960	T	-0.224096	0.52342	T	0.77726674079895	0.44880	D	0.809419	0.45992	T	0.14993371	0.34157	0.27048472	0.52940	0.14993371	0.34157	0.27048472	0.52939	-2.252	0.04300	T	.	.	0.936	0.85539	P	.	.	4.681449	0.74923	26.2	0.99688086119308827	0.79708	0.99133	0.91711	D	AEFBI	0.891293	0.82713	D	0.624988359746946	0.74757	6.187558	0.664192848206461	0.79670	7.132084	0.999999992010536	0.74766	0.706548	0.73137	0	0.601575	0.49859	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.54	5.54	0.82907	8.911000	0.92272	11.212000	0.89433	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	14.878	0.70147	388	0.83355	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	.	.	.	.	.	.	.	.	0.02632	55.34	35	chr16	23102333	.	A	G	55.34	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.841;DP=896;ExcessHet=0;FS=136.457;InbreedingCoeff=-0.0273;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.04;ReadPosRankSum=1.03;SOR=7.835	GT:AD:DP:GQ:PL	0/1:40,13:53:69:69,0,674	18	0	1	0
chr16	28482131	28482131	A	C	exonic	CLN3	.	nonsynonymous SNV	CLN3:NM_001286105:exon11:c.T730G:p.F244V,CLN3:NM_001286109:exon11:c.T796G:p.F266V,CLN3:NM_001286110:exon12:c.T868G:p.F290V,CLN3:NM_000086:exon13:c.T1030G:p.F344V,CLN3:NM_001286104:exon13:c.T958G:p.F320V,CLN3:NM_001042432:exon14:c.T1030G:p.F344V	Ceroid lipofuscinosis, neuronal, 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.120	0.0813155607152	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1051790069	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.508	0.09543	T	0.503	0.11299	T	0.074	0.34134	B	0.079	0.38752	B	0.150855	0.17973	N	0.601009	1	0.08975	N	2.38	0.68558	M	0.27	0.59176	T	-1.12	0.28906	N	0.481	0.56145	-0.2772	0.75617	T	0.603	0.85872	D	10	0.15039554	0.28446	T	0.081316	0.73656	D	0.120	0.33359	0.594	0.72371	0.57165941983	0.56832	0.26138928585425847	0.26051	0.308786403921	0.33188	0.454059660435	0.32499	T	0.574609	0.85971	D	-0.0688453	0.41510	T	-0.336668	0.40721	T	0.153013110125167	0.17341	T	0.873613	0.62120	D	0.08427862	0.19500	0.057850428	0.10590	0.08427862	0.19500	0.057850428	0.10589	-3.829	0.30534	T	0.10918573557870828	0.09087	0.253	0.48787	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	0.902507	0.12763	9.283	0.93423597988471641	0.23192	0.14614	0.18496	N	AEFDBI	0.200910	0.32761	N	-0.53479299590405	0.20962	1.108999	-0.477851480033957	0.22764	1.238102	0.00506344564012602	0.10815	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.41	3.11	0.34883	0.698000	0.25249	1.072000	0.23814	0.689000	0.82905	0.190000	0.24188	0.000000	0.08366	0.366000	0.26021	0.6607:0.0:0.1815:0.1578	3.738	0.08045	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	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	598.33	35	chr16	28482131	.	A	C	598.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.549;DP=615;ExcessHet=0;FS=6.605;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.62;ReadPosRankSum=-2.064;SOR=2.16	GT:AD:DP:GQ:PL	0/1:17,19:36:99:612,0,480	18	0	1	0
chr16	29485823	29485823	G	A	exonic	NPIPB12	.	nonsynonymous SNV	NPIPB12:NM_001355401:exon8:c.C653T:p.A218V	.	2	222	2	0	0	2	0.0044843	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.000773571985722	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1189817837	0.0006	0.0009	0.0006	0.0007	0.0038	0.0006	0.0005	0.0029	0.0026	0.0038	0.0019	0.0001	0.0002	0.0001	0.0016	0.0005	0.0008	0.0009	0.0013	0.0014	0.0013	0.0013	0.0033	0.0009	0.0008	0.0021	0.0018	0.0033	0	0.0032	0	0	0	0	0.0002	0.0055	0	0.123	0.27544	T	0.202	0.27414	T	.	.	.	.	.	.	.	.	.	.	0.999999	0.08975	N	.	.	.	1.0	0.41392	T	-1.67	0.39887	N	0.093	0.07262	-1.0168	0.24755	T	0.060	0.25054	T	4	0.14982828	0.28348	T	7.74E-4	0.00568	T	0.080	0.23350	0.745	0.87654	0.0762999501168	0.06990	.	.	.	.	.	.	.	.	.	.	-0.238398	0.15554	T	-0.580218	0.14526	T	0.0120771141934273	0.00191	T	0.831417	0.49863	T	.	.	.	.	.	.	.	.	-3.85	0.21553	T	.	.	0.402	0.59683	A	.;.	.;.	0.206290	0.05902	2.344	0.98434448885483183	0.41431	0.00092	0.00608	N	AEFI	0.027924	0.02369	N	-0.911891008097902	0.10563	0.5053657	-1.15893758649099	0.06609	0.3186807	1.82063294692628E-6	0.01202	0.706298	0.61202	0	0.659464	0.62310	0	0.709663	0.75317	0	0.668105	0.65232	0	.	.	.	.	.	-1.036000	0.03671	-5.159000	0.01826	-1.036000	0.01678	0.002000	0.15269	0.000000	0.08366	0.004000	0.06068	.	.	.	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	.	.	.	.	.	.	.	.	0.05263	91.12	11	chr16	29485823	.	G	A	91.12	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.751;DP=206;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0649;MLEAC=2;MLEAF=0.053;MQ=30.12;MQRankSum=0;QD=4.8;ReadPosRankSum=1.51;SOR=0.148	GT:AD:DP:GQ:PL	0/1:6,3:9:74:74,0,180	17	0	2	0
chr16	29810106	29810114	GCAGCGGCA	-	exonic	MAZ	.	nonframeshift deletion	MAZ:NM_001276276:exon3:c.394_402del:p.A141_A143del,MAZ:NM_002383:exon5:c.1309_1317del:p.A446_A448del,MAZ:NM_001276275:exon6:c.1240_1248del:p.A423_A425del	.	329	1048	62	5	78	150	0.0332103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0125	.	0.0097	0.0014	0.0019	0.0059	0.0005	0.0013	0.015	0.0587	3.23e-05	5	154602	rs760562143	0.0044	0.0044	0.0028	0.0060	0.0564	0.0043	0.0043	0.0550	0.0545	0.0009	0.0018	0.0003	0.0031	0.0009	0.0146	0.0009	0.0055	0.0564	0.0034	0.0034	0.0026	0.0042	0.0571	0.0032	0.0031	0.0514	0.0492	0.0010	0	0.0032	0	0.0063	0.0009	0.0252	0.0014	0.0063	0.0571	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	7100.79	44	chr16	29810105	.	GGCAGCGGCA	G	7100.79	.	AC=4;AF=0.105;AN=38;BaseQRankSum=1.01;DP=1075;ExcessHet=1.3;FS=0.522;InbreedingCoeff=-0.1515;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=14.09;ReadPosRankSum=0.91;SOR=0.613	GT:AD:DP:GQ:PL	0/1:45,41:86:99:1524,0,1710	15	0	4	0
chr16	29810108	29810117	AGCGGCAGCG	0	exonic	MAZ	.	.	.	.	326	1004	17	0	175	192	0.00839506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	1468.78	44	chr16	29810108	.	AGCGGCAGCG	*	1468.78	.	AC=5;AF=0.132;AN=38;BaseQRankSum=2.84;DP=1157;ExcessHet=2.0135;FS=0.52;InbreedingCoeff=-0.1875;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=2.42;ReadPosRankSum=0.673;SOR=0.654	GT:AD:DP:GQ:PL	0/1:45,41:86:99:1524,0,1710	14	0	5	0
chr16	30660331	30660331	G	T	exonic	FBRS	.	nonsynonymous SNV	FBRS:NM_001105079:exon2:c.G528T:p.R176S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.0767448949053	.	0.000199681	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs546150825	7.828e-06	1.094e-05	3.335e-06	1.273e-05	0.0001	3.68e-06	2.67e-06	2.94e-05	1.514e-05	0	0	0	0.0001	0	0	6.329e-06	0	0	1.969e-05	1.968e-05	1.284e-05	2.684e-05	0.0004	5.24e-06	2.45e-06	6.83e-05	2.858e-05	0	0	0	0	0.0004	0	0	0	0	0.0002	0.002	0.72154	D	0.144	0.33109	T	.	.	.	.	.	.	0.278078	0.14997	U	0.222141	1	0.81001	D	.	.	.	0.92	0.44461	T	-2.85	0.60029	D	0.368	0.40963	-0.9360	0.43241	T	0.152	0.48118	T	7	0.15487778	0.29205	T	0.076745	0.72604	D	0.144	0.38394	0.339	0.32979	0.0934897674506	0.08844	0.42201446658187197	0.42118	2.6155260816	0.98254	.	.	.	.	.	.	-0.173326	0.24732	T	-0.486747	0.23732	T	0.777904570102692	0.44920	D	0.738026	0.35555	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.768	0.75855	P	.	.	4.030122	0.59586	24.1	0.98268804283562317	0.39740	0.72304	0.35395	D	AEFDGBCI	0.494907	0.53050	N	-0.0914743440183641	0.37766	2.201948	-0.0715608876948593	0.36570	2.130016	0.999999975336039	0.74766	0.676563	0.55306	0	0.52208	0.09955	0	0.673471	0.61138	0	0.56214	0.19341	0	.	.	3.89	2.93	0.33092	2.299000	0.43271	5.905000	0.50941	-0.119000	0.14319	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.1071:0.0:0.8929:0.0	9.197	0.36399	35	0.98078	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1568.33	33	chr16	30660331	.	G	T	1568.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.239;DP=1000;ExcessHet=0;FS=0.651;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.25;ReadPosRankSum=1.59;SOR=0.624	GT:AD:DP:GQ:PL	0/1:61,67:128:99:1582,0,1497	18	0	1	0
chr16	31362084	31362084	G	A	exonic	ITGAX	.	nonsynonymous SNV	ITGAX:NM_000887:exon11:c.G1096A:p.V366I,ITGAX:NM_001286375:exon11:c.G1096A:p.V366I	.	415	1106	1	0	0	1	0.000451875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.00652568920414	.	.	5.767e-05	0	8.637e-05	0	0	8.991e-05	0	0	5.82e-05	9	154602	rs759594937	7.798e-05	7.798e-05	8.167e-05	7.425e-05	0.0002	6.599e-05	6.142e-05	0.0001	9.193e-05	5.974e-05	0.0002	0	2.519e-05	0	0	8.543e-05	6.623e-05	2.319e-05	3.943e-05	3.94e-05	5.138e-05	2.691e-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	0.17	0.23095	T	0.113	0.37173	T	0.082	0.24665	B	0.006	0.12133	B	.	.	.	.	0.998099	0.22354	N	1.75	0.45442	L	1.02	0.40749	T	-0.36	0.13035	N	0.18	0.19459	-1.0330	0.19490	T	0.089	0.34298	T	9	0.08536476	0.14403	T	0.006526	0.17186	T	0.059	0.16972	0.545	0.65873	0.253205268125	0.24938	0.2670742580724358	0.26620	0.156508872088	0.17663	0.309989333153	0.11906	T	0.079953	0.36250	T	-0.469555	0.00855	T	-0.610539	0.11941	T	0.0190210968282929	0.00611	T	0.332967	0.07033	T	0.068682745	0.14982	0.07748343	0.17264	0.068682745	0.14982	0.07748343	0.17264	-5.406	0.40977	T	.	.	0.081	0.08899	B	.;.	.;.	1.338562	0.17450	13.17	0.88688566799735902	0.18175	0.25539	0.22729	N	AEFDBI	0.100166	0.20147	N	-0.943633213013184	0.09836	0.4673057	-0.88417808440886	0.12469	0.6415275	0.754779771318898	0.23416	0.706298	0.61202	0	0.709663	0.81188	0	0.478664	0.07449	1	0.613276	0.41899	0	.	.	4.5	2.51	0.29435	0.794000	0.26619	.	.	-0.970000	0.01946	0.001000	0.13787	1.000000	0.68203	0.142000	0.20019	0.0938:0.0:0.9062:0.0	12.601	0.55849	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	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2251.33	33	chr16	31362084	.	G	A	2251.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.83;DP=857;ExcessHet=0;FS=1.77;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.79;ReadPosRankSum=1.47;SOR=0.827	GT:AD:DP:GQ:PL	0/1:101,90:191:99:2265,0,2275	18	0	1	0
chr16	48227918	48227918	G	C	exonic	ABCC11	.	nonsynonymous SNV	ABCC11:NM_033151:exon3:c.C283G:p.L95V,ABCC11:NM_001370496:exon4:c.C283G:p.L95V,ABCC11:NM_001370497:exon4:c.C283G:p.L95V,ABCC11:NM_032583:exon5:c.C283G:p.L95V,ABCC11:NM_145186:exon5:c.C283G:p.L95V	.	0	1519	3	0	0	3	0.000986518	.	.	.	2335825	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.223	0.0156851315634	0.0003	0.000199681	0.0004	0	0.0008	0	0	0.0006	0.0011	6.058e-05	0.0003816	59	154602	rs145987153	0.0005	0.0005	0.0005	0.0005	0.0007	0.0005	0.0005	0.0006	0.0005	5.974e-05	0.0007	0	0	5.616e-05	0.0002	0.0006	0.0005	5.797e-05	0.0003	0.0003	0.0004	0.0003	0.0006	0.0003	0.0002	0.0004	0.0004	2.406e-05	0	0.0003	0	0	0	0	0.0006	0.0014	0.0004	0.117	0.28271	T	0.136	0.52727	T	0.061	0.23190	B	0.028	0.21332	B	0.869492	0.07167	N	1.066870	0.999997	0.08975	N	1.265	0.31966	L	-2.57	0.89692	D	-0.8	0.22078	N	0.465	0.50146	-0.6894	0.60936	T	0.425	0.76910	T	10	0.034156203	0.01614	T	0.015685	0.36562	T	0.223	0.52023	.	.	0.560115663565	0.55672	0.17860026413394942	0.17779	0.0946223505276	0.10686	0.309851258993	0.11885	T	0.082283	0.36793	T	-0.335538	0.05702	T	-0.352161	0.38958	T	0.0391466577797847	0.03536	T	0.666133	0.27528	T	0.062473338	0.13051	0.04631003	0.06427	0.062473338	0.13051	0.04631003	0.06427	-3.571	0.17438	T	.	.	0.118	0.25100	B	.;.;.;.;.	.;.;.;.;.	-0.616104	0.01528	0.098	0.95842531538333153	0.27968	0.01872	0.05767	N	AEFBI	0.045869	0.07551	N	-1.20120738605675	0.04983	0.2261172	-1.28356320292263	0.04652	0.2199409	0.125410515663937	0.16977	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.53	-6.98	0.01454	-0.635000	0.05568	-0.281000	0.10269	-0.127000	0.13314	0.001000	0.13787	0.012000	0.20211	0.659000	0.32940	0.2948:0.295:0.1991:0.2112	0.542	0.00605	509	0.75304	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.003049	0.000000	0.02632	969.33	35	chr16	48227918	.	G	C	969.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.85;DP=733;ExcessHet=0;FS=2.751;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.99;ReadPosRankSum=-0.698;SOR=0.43	GT:AD:DP:GQ:PL	0/1:52,45:97:99:983,0,1311	18	0	1	0
chr16	50304430	50304430	C	T	exonic	ADCY7	.	nonsynonymous SNV	ADCY7:NM_001114:exon11:c.C1439T:p.A480V,ADCY7:NM_001286057:exon11:c.C1439T:p.A480V	.	428	1060	30	4	0	38	0.0176089	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.693	.	0.0039	0.00399361	0.0056	0.0004	0.0038	0.0001	0.0003	0.0063	0.0086	0.0130	0.005097	788	154602	rs61731915	0.0045	0.0045	0.0041	0.0049	0.0145	0.0044	0.0043	0.0120	0.0111	0.0015	0.0040	0.0191	0	0.0002	0.0145	0.0039	0.0058	0.0117	0.0036	0.0036	0.0034	0.0037	0.0149	0.0033	0.0032	0.0121	0.0111	0.0007	0	0.0033	0.0187	0.0006	0.0004	0.0136	0.0045	0.0052	0.0149	0.035	0.43708	D	0.058	0.46182	T	0.997	0.90584	D	0.862	0.75793	P	0.001013	0.40652	U	0.000000	1	0.81001	D	2.725	0.79712	M	-1.64	0.82533	D	-2.67	0.57110	D	0.665	0.69125	-0.0053	0.82146	T	0.504	0.81310	D	10	0.011714339	0.00255	T	.	.	.	0.693	0.88867	.	.	0.907111758557	0.90618	0.6667425496569043	0.66612	1.30625617506	0.83127	0.73498237133	0.72235	T	0.620045	0.88077	D	-0.053831	0.43863	T	0.159294	0.80762	D	0.0264179003572966	0.01463	T	0.965953	0.87464	D	0.20631067	0.42801	0.19506215	0.43162	0.20631067	0.42801	0.19506215	0.43161	-12.988	0.89314	D	.	.	0.349	0.65846	A	.;.;.	.;.;.	5.279062	0.88641	29.7	0.99941668848422993	0.99797	0.98540	0.83876	D	AEFDBCIJ	0.892021	0.82856	D	0.545402599546706	0.69801	5.409121	0.564697067074673	0.72428	5.807951	1.0	0.98316	0.67177	0.52595	0	0.702456	0.74545	0	0.645312	0.48771	0	0.655142	0.61905	0	.	.	4.83	4.83	0.61880	7.877000	0.85647	7.650000	0.63651	0.547000	0.25779	1.000000	0.71638	1.000000	0.68203	0.928000	0.46473	0.0:1.0:0.0:0.0	17.917	0.88874	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	0.018182	0.000000	0.024457	0.020468	0.100000	0.000000	0.021472	0.011450	0.02632	3016.33	34	chr16	50304430	.	C	T	3016.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.53;DP=879;ExcessHet=0;FS=1.637;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.59;ReadPosRankSum=0.044;SOR=0.831	GT:AD:DP:GQ:PL	0/1:107,115:222:99:3030,0,2561	18	0	1	0
chr16	57724815	57724815	T	C	exonic	DRC7	.	nonsynonymous SNV	DRC7:NM_001289163:exon11:c.T1543C:p.S515P,DRC7:NM_032269:exon12:c.T1738C:p.S580P,DRC7:NM_001289162:exon13:c.T1738C:p.S580P	.	425	1086	10	1	0	12	0.00549451	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.00574195076787	0.0032	0.00199681	0.0026	0.0005	0.0009	0	0.0002	0.0043	0.0012	0.0007	0.0026196	405	154602	rs115241876	0.0034	0.0034	0.0033	0.0035	0.0061	0.0033	0.0033	0.0045	0.0039	0.0008	0.0013	0.0095	0	0.0005	0.0061	0.0039	0.0039	0.0007	0.0026	0.0026	0.0026	0.0025	0.0040	0.0024	0.0023	0.0036	0.0035	0.0007	0	0.0026	0.0092	0	0.0005	0.0102	0.0040	0.0043	0.0006	0.094	0.31834	T	0.296	0.20615	T	0.966	0.60733	D	0.735	0.57754	P	0.600808	0.10960	N	0.814347	1	0.08975	N	.	.	.	3.03	0.10291	T	-2.16	0.48850	N	0.412	0.45331	-1.0643	0.10713	T	0.038	0.16203	T	10	0.0039655864	0.00076	T	0.005742	0.14892	T	0.119	0.33137	.	.	0.213573922156	0.20996	0.6133189093682226	0.61263	0.643341671489	0.57872	0.387464344501	0.23312	T	0.02847	0.20618	T	-0.486834	0.00676	T	-0.472087	0.25293	T	0.0240579176413542	0.01153	T	0.725427	0.34027	T	0.2693511	0.50007	0.35582975	0.61104	0.2693511	0.50006	0.35582975	0.61103	-3.349	0.14378	T	.	.	0.137	0.35477	B	.;.;.	.;.;.	2.735123	0.35810	20.0	0.99731537612296239	0.82833	0.11049	0.16373	N	AEFI	0.167361	0.29403	N	0.0622445200864493	0.44707	2.739938	-0.0591651065301367	0.37096	2.167	0.00394398692654133	0.10351	0.568482	0.32641	0	0.573078	0.20572	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.29	4.09	0.47038	0.126000	0.15597	2.273000	0.31844	0.665000	0.62972	0.000000	0.06391	0.996000	0.32793	0.684000	0.33659	0.1385:0.0:0.2281:0.6334	6.491	0.21315	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	0.004028	0.000000	0.002717	0.005848	0.000000	0.017241	0.009146	0.003788	0.05263	3800.83	35	chr16	57724815	.	T	C	3800.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.01;DP=894;ExcessHet=0.119;FS=0.461;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.43;ReadPosRankSum=1.87;SOR=0.727	GT:AD:DP:GQ:PL	0/1:74,57:131:99:1569,0,2024	17	0	2	0
chr16	66823281	66823281	T	C	exonic	NAE1	.	nonsynonymous SNV	NAE1:NM_001018160:exon5:c.A80G:p.D27G,NAE1:NM_001286500:exon6:c.A356G:p.D119G,NAE1:NM_003905:exon6:c.A347G:p.D116G,NAE1:NM_001018159:exon7:c.A329G:p.D110G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.231	0.0208761258462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.33753	T	0.075	0.42976	T	0.407	0.34981	B	0.378	0.43788	B	0.000001	0.84330	D	0.052997	1	0.81001	D	1.795	0.47270	L	0.84	0.47477	T	-2.77	0.58733	D	0.615	0.63798	-0.9008	0.47910	T	0.154	0.48430	T	10	0.5293914	0.63096	D	0.020876	0.43558	T	0.231	0.53208	0.523	0.62668	0.687836408464	0.68516	0.7237786903322078	0.72321	0.420935812295	0.42609	0.684337496758	0.64891	T	0.20038	0.55794	T	0.0804998	0.62098	D	-0.122144	0.61627	T	0.97700434923172	0.71640	D	0.972403	0.92553	D	0.57748663	0.71471	0.34648156	0.60315	0.57748663	0.71472	0.34648156	0.60315	-8.91	0.68874	D	.	.	0.597	0.68735	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.683808	0.74978	26.3	0.99334894869779522	0.59934	0.96941	0.71780	D	AEFBHCI	0.906918	0.86030	D	0.230208873191102	0.52667	3.439522	0.324970129236951	0.57011	3.865569	0.999999919631432	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	4.78	4.78	0.60666	7.642000	0.82531	6.210000	0.55001	0.605000	0.46263	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	14.602	0.68045	67	0.97183	.;THIF-type NAD/FAD binding fold;.;.;.;THIF-type NAD/FAD binding fold;THIF-type NAD/FAD binding fold	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1389	441.61	39	chr16	66823281	.	T	C	441.61	.	AC=5;AF=0.139;AN=36;BaseQRankSum=-3.833;DP=1524;ExcessHet=1.3;FS=221.541;InbreedingCoeff=-0.1732;MLEAC=5;MLEAF=0.139;MQ=60;MQRankSum=0;QD=0.7;ReadPosRankSum=0.452;SOR=10.787	GT:AD:DP:GQ:PL	0/1:103,28:131:6:6,0,2340	13	0	5	1
chr16	69330302	69330302	G	C	exonic	PDF	.	nonsynonymous SNV	PDF:NM_022341:exon1:c.C269G:p.P90R	.	9	1512	1	0	0	1	0.000330579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.711196764318	.	.	0.0016	0	0	0	.	0	0	0.0021	7.12e-05	11	154602	rs763867526	7.025e-05	7.251e-05	2.15e-05	0.0001	0.0013	5.812e-05	5.379e-05	0.0011	0.0010	0	0	0	0	0	0	0	5.652e-05	0.0013	5.92e-05	5.907e-05	6.436e-05	5.381e-05	0.0017	3.08e-05	2.212e-05	0.0008	0.0006	2.408e-05	0	0	0	0	0	0	0	0	0.0017	0.109	0.29288	T	0.044	0.49663	D	0.809	0.45342	P	0.388	0.44086	B	0.000060	0.53742	U	0.075590	1	0.81001	D	2.03	0.55503	M	0.87	0.46412	T	-2.44	0.53420	N	0.425	0.46462	-0.9634	0.38527	T	0.122	0.42357	T	10	0.12534523	0.23819	T	0.711197	0.97651	D	0.156	0.40720	0.415	0.45380	0.763276645413	0.76111	0.5209542126048867	0.52018	0.648113168193	0.58167	0.87740111351	0.93608	D	0.057397	0.30554	T	-0.319696	0.06923	T	-0.262076	0.48616	T	0.199787588280328	0.20404	T	0.582642	0.21138	T	0.3431535	0.56529	0.30278987	0.56311	0.3431535	0.56529	0.30278987	0.56310	-7.639	0.58582	D	.	.	0.111	0.21616	B	.	.	3.410970	0.47314	22.4	0.95685420273791322	0.27552	0.73929	0.36161	D	AEFDBHCIJ	0.618048	0.60400	D	0.0881126958346744	0.45909	2.839654	0.0143967067643299	0.40381	2.409094	0.999999999999969	0.74766	0.242642	0.04205	2	0.484254	0.07192	0	0.391439	0.06340	0	0.492483	0.08430	1	.	.	5.11	4.14	0.47821	2.682000	0.46601	7.267000	0.57978	0.662000	0.56354	0.957000	0.33433	1.000000	0.68203	0.025000	0.12405	0.0817:0.0:0.7696:0.1488	8.822	0.34191	118	0.95237	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1020.33	37	chr16	69330302	.	G	C	1020.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.659;DP=739;ExcessHet=0;FS=4.248;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.75;ReadPosRankSum=1.64;SOR=0.542	GT:AD:DP:GQ:PL	0/1:36,44:80:99:1034,0,938	18	0	1	0
chr16	70153445	70153445	C	T	exonic	PDPR	.	nonsynonymous SNV	PDPR:NM_001322118:exon16:c.C1807T:p.R603W,PDPR:NM_001322119:exon16:c.C901T:p.R301W,PDPR:NM_001322117:exon18:c.C2107T:p.R703W,PDPR:NM_017990:exon18:c.C2107T:p.R703W	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.770	0.12326752382	.	.	1.71e-05	0.0001	0	0	0	0	0	6.38e-05	1.29e-05	2	154602	rs771120314	1.711e-05	2.668e-05	2.042e-05	1.376e-05	2.988e-05	1.174e-05	9.92e-06	1.093e-05	8.81e-06	2.988e-05	2.238e-05	3.827e-05	0	0	0	1.709e-05	3.313e-05	1.16e-05	2.627e-05	2.626e-05	1.284e-05	4.032e-05	7.233e-05	8.14e-06	5.14e-06	1.918e-05	1.031e-05	7.233e-05	0	0	0	0	0	0	1.469e-05	0	0	0.001	0.78490	D	0.004	0.83351	D	1.0	0.90584	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.74	0.80084	M	-1.0	0.76037	T	-5.24	0.85247	D	0.932	0.95021	0.203	0.85967	D	0.597	0.85631	D	10	0.8816061	0.87472	D	0.123268	0.80440	D	0.770	0.92253	.	.	0.91246113623	0.91157	0.8807982011062933	0.88047	0.345189148028	0.36432	0.894468963146	0.95804	D	0.542935	0.91710	D	0.30367	0.83260	D	0.299054	0.88155	D	0.993524312973022	0.84356	D	0.983102	0.94254	D	0.755266	0.81175	0.80967647	0.88880	0.755266	0.81176	0.80967647	0.88881	-11.225	0.80877	D	.	.	0.696	0.72795	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	6.094920	0.94548	34	0.99926498679718112	0.99103	0.94798	0.62366	D	AEFDGBCI	0.782746	0.71394	D	0.787162439774005	0.85296	8.533773	0.769912935851093	0.87637	9.290834	1.0	0.98316	0.706548	0.73137	0	0.653731	0.59785	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.74	5.74	0.90070	4.861000	0.62666	5.873000	0.50556	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:1.0:0.0:0.0	19.270	0.93993	173	0.93306	Aminomethyltransferase, folate-binding domain;Aminomethyltransferase, folate-binding domain;Aminomethyltransferase, folate-binding domain;Aminomethyltransferase, folate-binding domain;Aminomethyltransferase, folate-binding domain;Aminomethyltransferase, folate-binding domain;Aminomethyltransferase, folate-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	614.33	39	chr16	70153445	.	C	T	614.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.29;DP=960;ExcessHet=0;FS=1.277;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=2.27;ReadPosRankSum=0.478;SOR=0.829	GT:AD:DP:GQ:PL	0/1:226,45:271:99:628,0,5711	18	0	1	0
chr16	70664616	70664616	C	A	exonic	MTSS2	.	nonsynonymous SNV	MTSS2:NM_138383:exon14:c.G1453T:p.D485Y	.	415	1106	0	1	0	2	0.000903342	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.541	0.290166087439	.	0.000399361	0.0002	0	0	0	0	0	0	0.0018	0.0002005	31	154602	rs561037508	7.051e-05	7.046e-05	3.406e-05	0.0001	0.0011	5.918e-05	5.527e-05	0.0010	0.0009	0	0	0	0	0	0.0002	8.994e-07	4.975e-05	0.0011	3.939e-05	3.937e-05	2.57e-05	5.37e-05	0.0012	1.714e-05	1.129e-05	0.0005	0.0004	0	0	0	0	0	0	0	0	0	0.0012	0.002	0.72154	D	0.03	0.54159	D	1.0	0.90584	D	0.967	0.71530	D	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	2.69	0.78713	M	-0.82	0.74053	T	-7.25	0.94352	D	0.889	0.95491	0.216	0.86178	D	0.582	0.84982	D	10	0.26450405	0.43938	T	0.290166	0.90536	D	0.541	0.80842	0.254	0.19378	0.59002111462	0.58677	0.7185057750072416	0.71793	0.226704076737	0.25215	0.908402562141	0.97317	D	0.502184	0.82215	D	0.00264102	0.52017	T	0.195639	0.82888	D	0.324115467939259	0.25988	T	0.996	0.98481	D	0.8940958	0.90861	0.7914625	0.87736	0.8940958	0.90862	0.7914625	0.87737	-16.486	0.98402	D	.	.	0.995	0.96051	P	.;.	.;.	5.307293	0.89095	29.9	0.99609192780736022	0.74694	0.95882	0.66560	D	AEFDBCI	0.929683	0.91581	D	0.760991143462773	0.83620	8.06508	0.718856007567222	0.83811	8.120739	0.999999999999461	0.74766	0.787689	0.99735	0	0.588015	0.36545	0	0.0	0.00061	3	0.714379	0.83352	0	.	.	4.89	4.89	0.63387	7.871000	0.85545	7.553000	0.60314	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:1.0:0.0:0.0	17.654	0.88077	289	0.88525	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	616.33	37	chr16	70664616	.	C	A	616.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.97;DP=728;ExcessHet=0;FS=3.388;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.8;ReadPosRankSum=0.256;SOR=1.123	GT:AD:DP:GQ:PL	0/1:47,23:70:99:630,0,1248	18	0	1	0
chr16	70903767	70903767	C	G	exonic	HYDIN	.	nonsynonymous SNV	HYDIN:NM_001270974:exon52:c.G8707C:p.V2903L	Ciliary dyskinesia, primary, 5, Autosomal recessive	552	969	0	1	0	2	0.00103093	.	.	.	3894013	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.074	0.0123321478272	.	.	0	0	0	0	.	0	0	0	0.0001921	5	26028	rs539996083	0.0011	0.0010	0.0005	0.0016	0.0129	0.0010	0.0009	0.0118	0.0114	0.0001	0	0	7.693e-05	0	0	1.03e-05	0.0002	0.0129	0.0004	0.0004	0.0003	0.0005	0.0100	0.0002	0.0002	0.0056	0.0043	0	0	0	0	0	0	0	0	0	0.0100	0.435	0.09401	T	.	.	.	.	.	.	.	.	.	0.508094	0.11874	U	0.609345	1	0.08975	N	2.555	0.74557	M	5.56	0.00864	T	-1.27	0.31981	N	0.314	0.35408	-0.9234	0.45084	T	0.005	0.01578	T	10	0.0070207715	0.00160	T	0.012332	0.30806	T	0.074	0.21613	0.438	0.49157	0.0954503805726	0.09146	0.03304555268160187	0.03252	.	.	0.332303225994	0.15282	T	0.073969	0.34826	T	-0.639588	0.00084	T	-0.679177	0.07034	T	0.0476581647543335	0.05083	T	.	.	.	0.12801263	0.29940	0.12731843	0.30649	0.12801263	0.29940	0.12731843	0.30648	-3.612	0.18031	T	.	.	0.166	0.36633	B	.	.	1.733492	0.22059	15.46	0.9451468200478419	0.25000	0.08138	0.14103	N	AEFDBI	0.156054	0.28135	N	-0.375376423404422	0.26349	1.437363	-0.327984364694573	0.27198	1.507568	0.999885845593893	0.44867	0.59774	0.34471	0	0.596491	0.49125	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.25	4.3	0.50540	1.112000	0.30786	0.392000	0.17901	0.596000	0.33519	0.008000	0.17931	0.005000	0.19230	0.986000	0.61781	0.0:0.6883:0.1503:0.1614	6.522	0.21480	523	0.74147	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	115.41	8	chr16	70903767	.	C	G	115.41	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.26;DP=156;ExcessHet=0;FS=0;InbreedingCoeff=-0.0328;MLEAC=1;MLEAF=0.026;MQ=27;MQRankSum=0;QD=11.54;ReadPosRankSum=0.2;SOR=0.16	GT:AD:DP:GQ:PL	0/1:5,5:10:99:129,0,124	18	0	1	0
chr16	71129710	71129710	G	A	exonic	HYDIN	.	nonsynonymous SNV	HYDIN:NM_001198542:exon9:c.C1238T:p.A413V,HYDIN:NM_001198543:exon9:c.C1208T:p.A403V,HYDIN:NM_001270974:exon9:c.C1157T:p.A386V,HYDIN:NM_017558:exon9:c.C1157T:p.A386V	Ciliary dyskinesia, primary, 5, Autosomal recessive	3	1514	5	0	0	5	0.00164853	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	.	0.0019	0.00539137	0.0036	0.0004	0.0005	0	0.0002	0.0015	0.0067	0.0195	0.0031371	485	154602	rs150136432	0.0032	0.0032	0.0029	0.0035	0.0165	0.0031	0.0031	0.0158	0.0155	0.0003	0.0007	0	2.519e-05	3.744e-05	0.0005	0.0027	0.0030	0.0165	0.0019	0.0019	0.0017	0.0021	0.0182	0.0017	0.0017	0.0152	0.0140	0.0003	0	0.0021	0	0	0	0	0.0022	0.0028	0.0182	0.027	0.46513	D	0.042	0.50226	D	0.301	0.32572	B	0.094	0.30180	B	0.585394	0.11102	U	0.657383	0.996271	0.23064	N	0	0.06538	N	5.59	0.05710	T	-0.97	0.30964	N	0.146	0.14763	-0.9735	0.36453	T	0.019	0.08173	T	10	0.0040670037	0.00079	T	.	.	.	0.079	0.23065	.	.	0.107399877778	0.10242	0.13563045021395093	0.13487	.	.	0.242247447371	0.02996	T	0.066452	0.32950	T	-0.561535	0.00248	T	-0.565103	0.15900	T	0.0145680748363632	0.00299	T	.	.	.	0.05675926	0.11210	0.08637753	0.20007	0.052683085	0.09860	0.090011604	0.21082	-5.151	0.43372	T	.	.	0.106	0.19518	B	.;.;.;.;.	.;.;.;.;.	2.145095	0.27317	17.42	0.96290929746779819	0.29315	0.53425	0.29369	D	AEFDBCI	0.228785	0.35241	N	-0.643677636558329	0.17644	0.9096978	-0.506401638956703	0.21979	1.191582	0.999998842188521	0.74766	0.653281	0.48532	0	0.563428	0.19063	0	0.675528	0.61593	0	0.663205	0.64265	0	.	.	4.97	3.86	0.43689	1.710000	0.37539	0.784000	0.21507	-0.757000	0.03535	0.847000	0.30396	0.039000	0.21534	0.274000	0.23868	0.0:0.0:0.1553:0.8447	11.342	0.48778	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	1	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	773.33	45	chr16	71129710	.	G	A	773.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.52;DP=967;ExcessHet=0;FS=5.136;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.67;MQRankSum=-2.583;QD=12.28;ReadPosRankSum=-0.337;SOR=1.447	GT:AD:DP:GQ:PL	0/1:33,30:63:99:787,0,781	18	0	1	0
chr16	77212327	77212327	A	C	exonic	SYCE1L	.	nonsynonymous SNV	SYCE1L:NM_001348924:exon7:c.A416C:p.H139P,SYCE1L:NM_001129979:exon9:c.A539C:p.H180P	.	390	1116	14	2	0	18	0.008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	.	.	0.00259585	0.0034	0	0	0	0	0.0020	0	0.0052	0.0008068	21	26028	rs563915036	0.0008	0.0008	0.0006	0.0010	0.0065	0.0008	0.0007	0.0060	0.0058	0.0007	0.0007	0.0071	2.847e-05	4.254e-05	0.0041	0.0003	0.0014	0.0065	0.0007	0.0007	0.0006	0.0008	0.0069	0.0006	0.0005	0.0050	0.0044	4.821e-05	0.0022	0.0010	0.0058	0.0004	0	0.0103	0.0003	0.0024	0.0069	0.284	0.15303	T	0.317	0.19304	T	0.0	0.02946	B	0.0	0.01387	B	0.608157	0.05685	U	1.615030	1	0.08975	N	0	0.06538	N	0.92	0.44461	T	-0.34	0.12661	N	0.068	0.04072	-1.0308	0.20195	T	0.053	0.22539	T	10	0.003554076	0.00064	T	.	.	.	0.010	0.01040	.	.	0.0297737177859	0.01360	0.07145139790183969	0.07082	2.51436962822E-4	0.00014	0.398789763451	0.24900	T	5.55E-4	0.00219	T	-0.559405	0.00256	T	-0.576057	0.14898	T	0.00948043332231999	0.00122	T	0.144286	0.01174	T	0.10560573	0.24970	0.11362108	0.27423	0.10560573	0.24970	0.11362108	0.27422	-3.397	0.15016	T	.	.	0.081	0.08129	B	.	.	0.939460	0.13151	9.652	0.6522926523551581	0.07714	0.04932	0.10689	N	ALL	0.066917	0.13127	N	-1.34394922683636	0.03188	0.1419939	-1.37463106260825	0.03524	0.1645718	0.999999999986809	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.47417	0.07244	0	0.372554	0.06265	0	.	.	2.61	0.55	0.16408	-0.064000	0.11593	0.003000	0.13321	-0.193000	0.09282	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.4696:0.0:0.5304:0.0	5.215	0.14658	859	0.33891	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006458	0.013158	0.003311	0.017391	0.000000	0.000000	0.000000	0.007353	0.02632	751.33	20	chr16	77212327	.	A	C	751.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.114;DP=530;ExcessHet=0;FS=1.642;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.31;ReadPosRankSum=0.557;SOR=0.379	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:13,24:37:99:1|0:77212321_G_A:765,0,474:77212321	18	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	.	.	.	.	.	.	.	.	0.1316	720.36	135	chr16	88436039	.	G	C	720.36	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-3.799;DP=2650;ExcessHet=1.3;FS=183.724;InbreedingCoeff=-0.1514;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=0.87;ReadPosRankSum=1.79;SOR=11.675	GT:AD:DP:GQ:PL	0/1:121,67:191:99:367,0,1836	14	0	5	0
chr16	88721421	88721421	G	A	exonic	PIEZO1	.	nonsynonymous SNV	PIEZO1:NM_001142864:exon39:c.C5413T:p.L1805F	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Autosomal dominant;Lymphedema, hereditary, III, Autosomal recessive	269	1247	6	0	0	6	0.0024	.	.	.	740458	not_provided|PIEZO1-related_disorder	MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.229	0.73882842185	.	0.000399361	0.0019	0	0	0	0	0.0001	0	0.0045	0.0002911	45	154602	rs201769196	0.0003	0.0003	0.0002	0.0004	0.0053	0.0003	0.0003	0.0038	0.0033	0.0003	0.0004	0	0	0	0.0053	0.0002	0.0003	0.0026	0.0002	0.0002	0.0003	0.0002	0.0017	0.0002	0.0002	0.0008	0.0006	7.22e-05	0	0.0004	0	0	0	0.0034	0.0002	0.0009	0.0017	0.068	0.35726	T	0.004	0.74150	D	0.879	0.48338	P	0.37	0.43538	B	0.000001	0.84330	D	0.000000	0.999806	0.49283	D	3.485	0.92608	M	-1.37	0.80214	T	-3.14	0.64019	D	0.397	0.43803	-0.2416	0.76584	T	0.389	0.74371	T	10	0.027090877	0.00862	T	0.738828	0.97906	D	0.575	0.82799	.	.	0.449421072434	0.44565	0.6827595709860058	0.68214	.	.	0.648559808731	0.59782	T	0.139977	0.47429	T	-0.216901	0.18416	T	-0.0873899	0.64357	T	0.17873671310832	0.19156	T	0.948805	0.80311	D	0.2798853	0.51037	0.18915688	0.42247	0.2798853	0.51037	0.18915688	0.42246	-9.675	0.71944	D	0.8060606039285848	0.88191	0.667	0.71623	P	.	.	3.810672	0.54964	23.6	0.99596550939522499	0.73925	0.93127	0.57397	D	AEFDBCI	0.545019	0.55970	D	0.336220576434354	0.58017	3.971594	0.342186202661793	0.58040	3.972206	0.999427470725161	0.39630	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	3.359000	0.52012	11.457000	0.92815	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.296000	0.24405	0.0851:0.0:0.9149:0.0	12.226	0.53771	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	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1179.33	80	chr16	88721421	.	G	A	1179.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.22;DP=1178;ExcessHet=0;FS=8.625;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.71;ReadPosRankSum=-0.074;SOR=1.096	GT:AD:DP:GQ:PL	0/1:45,41:86:99:1193,0,1301	18	0	1	0
chr16	89284161	89284161	A	G	exonic	ANKRD11	.	nonsynonymous SNV	ANKRD11:NM_001256183:exon9:c.T2381C:p.I794T,ANKRD11:NM_013275:exon9:c.T2381C:p.I794T,ANKRD11:NM_001256182:exon10:c.T2381C:p.I794T	KBG syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3802387	KBG_syndrome	MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050,Orphanet:2332	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.018	0.00727015055541	.	.	8.591e-06	0	8.868e-05	0	0	0	0	0	6.5e-06	1	154602	rs759272573	1.377e-06	3.42e-06	1.369e-06	1.386e-06	4.661e-05	2.3e-07	9e-08	7.73e-06	2.89e-06	0	4.661e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.52	0.10465	T	0.0	0.02946	B	0.0	0.01387	B	0.473085	0.12254	N	0.748708	1	0.08975	N	-1.085	0.01025	N	1.34	0.34841	T	1.27	0.00985	N	0.046	0.02088	-1.0048	0.28517	T	0.024	0.10194	T	10	0.016104728	0.00339	T	0.00727	0.19280	T	0.018	0.03083	0.218	0.13932	0.102598925029	0.09809	3.480766670945786E-4	0.00031	0.108005847181	0.12179	0.323267638683	0.13916	T	0.061263	0.31607	T	-0.50949	0.00505	T	-0.78994	0.02166	T	0.0337778290875112	0.02601	T	0.126787	0.01303	T	0.020807045	0.00653	0.037021473	0.03266	0.020807045	0.00653	0.037021473	0.03266	-3.569	0.17410	T	0.0408067304843778	0.00374	0.07	0.06024	B	.;.;.;.	.;.;.;.	-0.089938	0.03702	0.755	0.29245769297825269	0.01541	0.12818	0.17497	N	AEDBI	0.048489	0.08280	N	-1.30269010940199	0.03644	0.1631694	-1.23211650683061	0.05401	0.257258	0.785011936865866	0.23914	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.43	-1.61	0.07951	0.642000	0.24426	0.839000	0.22025	-0.752000	0.03574	0.196000	0.24261	0.001000	0.17328	0.524000	0.29567	0.2653:0.2317:0.3836:0.1193	1.593	0.02498	819	0.41190	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1333	577.64	76	chr16	89284161	.	A	G	577.64	.	AC=4;AF=0.133;AN=30;BaseQRankSum=-2.147;DP=2246;ExcessHet=0.7564;FS=117.529;InbreedingCoeff=-0.2077;MLEAC=5;MLEAF=0.167;MQ=59.99;MQRankSum=0;QD=1.12;ReadPosRankSum=1.15;SOR=8.675	GT:AD:DP:GQ:PL	0/1:118,33:151:70:70,0,2893	11	0	4	4
chr16	89965923	89965923	A	G	exonic	DEF8	.	nonsynonymous SNV	DEF8:NM_001242817:exon12:c.A1136G:p.Q379R,DEF8:NM_001242819:exon12:c.A1265G:p.Q422R,DEF8:NM_001242816:exon13:c.A1286G:p.Q429R,DEF8:NM_001242818:exon13:c.A1316G:p.Q439R,DEF8:NM_207514:exon13:c.A1499G:p.Q500R,DEF8:NM_001242820:exon14:c.A1316G:p.Q439R	.	416	1094	12	0	0	12	0.00545455	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.0172251356361	.	0.000199681	0.0009	0.0001	0.0003	0	0	0.0002	0.0024	0.0052	0.0006856	106	154602	rs202055951	0.0004	0.0004	0.0003	0.0005	0.0045	0.0004	0.0004	0.0041	0.0040	2.987e-05	0.0004	0	0	0	0.0042	0.0001	0.0006	0.0045	0.0003	0.0003	0.0003	0.0004	0.0050	0.0002	0.0002	0.0034	0.0029	9.629e-05	0.0099	6.536e-05	0	0	0	0.0034	0.0001	0.0005	0.0050	0.042	0.44029	D	0.088	0.41405	T	0.001	0.35719	B	0.001	0.29521	B	0.001306	0.39449	N	0.170753	0.94986	0.38926	D	2.25	0.63811	M	0.92	0.91956	T	-1.06	0.27669	N	0.106	0.15749	-1.0579	0.12286	T	0.080	0.31705	T	10	0.005384147	0.00118	T	0.017225	0.38843	T	0.043	0.11576	.	.	0.564579235405	0.56121	0.45647020073458555	0.45565	0.602164739039	0.55238	0.399929523468	0.25058	T	0.009299	0.08472	T	-0.275869	0.11111	T	-0.168502	0.57579	T	0.0350807525866559	0.02822	T	0.756024	0.37907	T	0.08549143	0.19833	0.10329579	0.24781	0.08549143	0.19832	0.10329579	0.24781	-5.914	0.49196	T	.	.	0.090	0.12560	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.551989	0.33031	19.22	0.99031935297554652	0.50830	0.76238	0.37376	D	AEFDBI	0.234281	0.35707	N	-0.19890250793686	0.33179	1.879528	-0.0898632112949158	0.35808	2.076101	0.785460660593361	0.23922	0.787689	0.99735	0	0.709663	0.81188	0	0.0	0.00061	3	0.714379	0.83352	0	.	.	4.44	3.32	0.37134	3.122000	0.50139	3.591000	0.39190	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.962000	0.52141	0.8103:0.0:0.1897:0.0	7.729	0.27941	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	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.007576	0.05263	1895.83	34	chr16	89965923	.	A	G	1895.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.367;DP=775;ExcessHet=0.119;FS=1.164;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.53;ReadPosRankSum=-0.665;SOR=0.592	GT:AD:DP:GQ:PL	0/1:52,41:93:99:1040,0,1349	17	0	2	0
chr17	413815	413815	C	0	exonic	C17orf97	.	.	.	.	492	947	19	0	64	83	0.00993204	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08824	3645.09	35	chr17	413815	.	C	*	3645.09	.	AC=3;AF=0.088;AN=34;BaseQRankSum=-1.819;DP=806;ExcessHet=2.0973;FS=0.825;InbreedingCoeff=-0.1014;MLEAC=3;MLEAF=0.088;MQ=51.13;MQRankSum=-3.114;QD=9.99;ReadPosRankSum=-0.989;SOR=0.635	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:1,31:37:39:.:.:1267,88,39:.	14	0	3	2
chr17	413822	413822	C	0	exonic	C17orf97	.	.	.	.	509	931	17	0	65	82	0.00904737	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08824	3979.26	37	chr17	413822	.	C	*	3979.26	.	AC=3;AF=0.088;AN=34;BaseQRankSum=-0.523;DP=846;ExcessHet=5.777;FS=0.384;InbreedingCoeff=-0.2941;MLEAC=3;MLEAF=0.088;MQ=50.36;MQRankSum=-3.06;QD=10.42;ReadPosRankSum=-1.422;SOR=0.732	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:6,30:37:99:.:.:1052,0,167:.	14	0	3	2
chr17	413824	413824	C	0	exonic	C17orf97	.	.	.	.	487	954	61	4	16	85	0.0349014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08824	3875.26	35	chr17	413824	.	C	*	3875.26	.	AC=3;AF=0.088;AN=34;BaseQRankSum=0.335;DP=838;ExcessHet=5.777;FS=0;InbreedingCoeff=-0.2941;MLEAC=3;MLEAF=0.088;MQ=49.98;MQRankSum=-2.422;QD=10.01;ReadPosRankSum=-1.376;SOR=0.677	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:6,30:37:99:.:.:1052,0,167:.	14	0	3	2
chr17	413831	413831	A	0	exonic	C17orf97	.	.	.	.	725	697	61	4	35	104	0.0471634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	3502.03	35	chr17	413831	.	A	*	3502.03	.	AC=3;AF=0.1;AN=30;BaseQRankSum=-0.862;DP=878;ExcessHet=5.0413;FS=1.291;InbreedingCoeff=-0.1846;MLEAC=4;MLEAF=0.133;MQ=49.37;MQRankSum=-2.859;QD=9.73;ReadPosRankSum=-2.316;SOR=0.622	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:6,30:37:99:.:.:1052,0,167:.	12	0	3	4
chr17	2332333	2332333	T	-	exonic	TSR1	.	frameshift deletion	TSR1:NM_018128:exon8:c.1332delA:p.E444Dfs*5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1978.29	36	chr17	2332332	.	AT	A	1978.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.477;DP=752;ExcessHet=0;FS=2.232;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.76;ReadPosRankSum=-0.818;SOR=0.509	GT:AD:DP:GQ:PL	0/1:70,64:134:99:1992,0,2228	18	0	1	0
chr17	3663755	3663755	A	G	exonic	TAX1BP3	.	nonsynonymous SNV	TAX1BP3:NM_001204698:exon3:c.T290C:p.L97P,TAX1BP3:NM_014604:exon4:c.T368C:p.L123P	.	419	1061	39	3	0	45	0.020766	.	.	.	1948661	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.088	.	0.0056	0.00559105	0.0076	0.0008	0.0042	0	0.0117	0.0079	0.0112	0.0153	0.0065329	1010	154602	rs143045421	0.0069	0.0069	0.0066	0.0072	0.0177	0.0068	0.0067	0.0147	0.0140	0.0010	0.0055	0.0188	0	0.0135	0.0177	0.0061	0.0072	0.0150	0.0061	0.0061	0.0056	0.0066	0.0159	0.0058	0.0057	0.0131	0.0120	0.0009	0.0253	0.0067	0.0184	0.0004	0.0151	0.0136	0.0066	0.0052	0.0159	0.004	0.65419	D	0.011	0.64786	D	0.096	0.25489	B	0.006	0.12133	B	0.134888	0.18500	U	0.496538	0.999909	0.50806	D	0.69	0.16971	N	2.48	0.14657	T	0.08	0.06026	N	0.349	0.43995	-1.0236	0.22541	T	0.014	0.05417	T	10	0.0056372285	0.00125	T	.	.	.	0.088	0.25558	.	.	0.167679373172	0.16340	0.6078694356104023	0.60718	0.822542354302	0.67239	0.660965800285	0.61548	T	0.013844	0.11897	T	-0.450497	0.01122	T	-0.40756	0.32507	T	0.0197139498959932	0.00673	T	0.789121	0.42899	T	0.3396613	0.56253	0.27132738	0.53032	0.3704624	0.58620	0.27132738	0.53031	-4.721	0.33657	T	.	.	0.192	0.41187	B	.;.	.;.	4.457874	0.69356	25.4	0.99505271256979999	0.68264	0.85361	0.44486	D	AEFDBHCIJ	0.859156	0.77678	D	-0.141860665605888	0.35583	2.04563	0.0697369917087685	0.43037	2.613753	0.9999985346376	0.74766	0.67177	0.52595	0	0.643519	0.57511	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.05	5.05	0.67566	2.498000	0.45023	11.212000	0.89433	0.738000	0.86027	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.8368:0.1632:0.0:0.0	10.458	0.43750	778	0.48011	.;.	.	.	.	.	.	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	0.012133	0.015152	0.010870	0.002924	0.000000	0.026316	0.012422	0.011364	0.05263	595.83	42	chr17	3663755	.	A	G	595.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.667;DP=654;ExcessHet=0.119;FS=3.271;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=8.05;ReadPosRankSum=0.402;SOR=1.143	GT:AD:DP:GQ:PL	0/1:17,15:32:99:330,0,446	17	0	2	0
chr17	4559009	4559009	G	A	exonic	GGT6	.	nonsynonymous SNV	GGT6:NM_153338:exon3:c.C392T:p.T131M,GGT6:NM_001122890:exon4:c.C488T:p.T163M,GGT6:NM_001288702:exon4:c.C506T:p.T169M	.	414	1099	8	1	0	10	0.00452899	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.00880709847543	.	0.00199681	0.0026	0	0.0037	0	0	0.0035	0	0.0026	0.0007633	118	154602	rs201922735	0.0024	0.0023	0.0023	0.0024	0.0050	0.0023	0.0023	0.0035	0.0030	0.0003	0.0014	0.0067	0	0.0007	0.0050	0.0024	0.0041	0.0030	0.0017	0.0017	0.0017	0.0017	0.0029	0.0015	0.0015	0.0020	0.0019	0.0005	0	0.0019	0.0084	0	0.0003	0.0136	0.0023	0.0014	0.0029	0.11	0.29158	T	0.233	0.25135	T	1.0	0.90584	D	0.998	0.92359	D	0.170348	0.17393	N	0.569313	1	0.08975	N	2.295	0.65404	M	3.08	0.48769	T	-2.17	0.49018	N	0.141	0.14054	-1.0805	0.07252	T	0.031	0.13418	T	10	0.007942945	0.00180	T	0.008807	0.23245	T	0.063	0.18251	.	.	0.508223314113	0.50461	0.33637562567662255	0.33550	0.0832408400961	0.09385	0.428785145283	0.29042	T	0.012462	0.10952	T	-0.482099	0.00719	T	-0.470516	0.25460	T	0.0171128701522512	0.00457	T	0.726827	0.34112	T	0.025839284	0.01567	0.068452805	0.14297	0.025839284	0.01567	0.068452805	0.14297	-7.162	0.56820	T	.	.	0.129	0.27702	B	.;.;.;.	.;.;.;.	1.463557	0.18867	13.97	0.99028590136114714	0.50742	0.02012	0.06052	N	AEFBI	0.072545	0.14482	N	-0.225247907570315	0.32100	1.806776	-0.446161772422079	0.23658	1.291308	0.991187961090667	0.32402	0.497415	0.19182	0	0.547309	0.14657	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	4.99	1.27	0.20595	0.215000	0.17352	2.765000	0.34631	0.674000	0.70861	0.001000	0.13787	0.998000	0.33993	0.047000	0.14932	0.2717:0.2172:0.5111:0.0	3.328	0.06660	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	0.004108	0.000000	0.003205	0.009434	0.000000	0.000000	0.003497	0.004464	0.02632	435.33	34	chr17	4559009	.	G	A	435.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.748;DP=673;ExcessHet=0;FS=4.581;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.37;ReadPosRankSum=-0.256;SOR=0.458	GT:AD:DP:GQ:PL	0/1:25,17:42:99:449,0,706	18	0	1	0
chr17	4592966	4592966	C	A	exonic	SMTNL2	.	nonsynonymous SNV	SMTNL2:NM_001114974:exon3:c.C525A:p.F175L,SMTNL2:NM_198501:exon3:c.C93A:p.F31L	.	424	1073	25	0	0	25	0.0115154	.	.	.	740829	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.072	0.0360831208966	0.0019	0.000399361	0.0018	0.0002	0.0027	0.0001	0.0002	0.0025	0.0044	0.0005	0.0018111	280	154602	rs145126598	0.0025	0.0025	0.0026	0.0024	0.0101	0.0025	0.0025	0.0080	0.0072	0.0004	0.0021	0.0037	0	0.0001	0.0101	0.0029	0.0029	0.0005	0.0019	0.0019	0.0020	0.0017	0.0030	0.0017	0.0016	0.0027	0.0026	0.0005	0	0.0024	0.0020	0	0.0002	0.0034	0.0030	0.0057	0.0002	0.102	0.30235	T	0.641	0.06948	T	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	1.67	0.42885	L	-1.35	0.80214	T	-0.39	0.15986	N	0.117	0.10626	-0.9173	0.45918	T	0.275	0.64639	T	9	0.008154988	0.00185	T	0.036083	0.56766	D	0.072	0.21020	0.132	0.03662	0.479133204078	0.47542	0.16857906858396557	0.16777	0.406464777723	0.41524	0.450155854225	0.31965	T	6.54E-4	0.00285	T	-0.487252	0.00673	T	-0.472276	0.25272	T	0.000269420048464339	0.00002	T	0.318868	0.06391	T	0.04020663	0.05696	0.03238495	0.01966	0.04020663	0.05696	0.03238495	0.01965	-1.322	0.01482	T	.	.	0.317	0.54316	B	.;.	.;.	0.458615	0.08286	5.030	0.86060079012006774	0.16287	0.03520	0.08703	N	AEFDBI	0.062606	0.12045	N	-0.99916630538342	0.08622	0.4049587	-1.06251479446449	0.08447	0.4154179	0.00303772998690517	0.09882	0.646311	0.45356	0	0.59043	0.45803	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	4.75	-1.24	0.08948	0.242000	0.17862	-0.174000	0.11198	0.595000	0.32841	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.4654:0.2891:0.1516:0.0939	2.772	0.05008	697	0.58201	.;.	.	.	.	.	.	Likely benign	0	0	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	0.008056	0.005051	0.004087	0.014620	0.000000	0.025862	0.009146	0.003788	0.05263	2982.83	43	chr17	4592966	.	C	A	2982.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.131;DP=910;ExcessHet=0.119;FS=0.429;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.22;ReadPosRankSum=1.16;SOR=0.734	GT:AD:DP:GQ:PL	0/1:62,46:108:99:1211,0,1613	17	0	2	0
chr17	4672799	4672799	C	T	exonic	PELP1	.	nonsynonymous SNV	PELP1:NM_014389:exon16:c.G2192A:p.R731Q,PELP1:NM_001278241:exon17:c.G1751A:p.R584Q	.	413	1099	8	2	0	12	0.00542986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.0124175127691	0.0008	0.000599042	0.0004	0	0.0002	0	0	0.0005	0	0.0008	0.0004204	65	154602	rs202062234	0.0005	0.0005	0.0005	0.0005	0.0008	0.0005	0.0005	0.0006	0.0006	5.975e-05	0.0002	0	0	7.492e-05	0.0005	0.0005	0.0008	0.0008	0.0004	0.0004	0.0004	0.0003	0.0015	0.0003	0.0003	0.0007	0.0005	7.222e-05	0	0.0002	0	0.0004	0	0	0.0006	0	0.0015	0.022	0.48642	D	0.212	0.26549	T	0.99	0.63424	D	0.629	0.51727	P	0.002438	0.36574	N	0.185444	0.946737	0.30760	N	0.895	0.22405	L	0.68	0.51952	T	0.19	0.04947	N	0.455	0.51137	-1.0222	0.22998	T	0.091	0.34928	T	10	0.025797129	0.00763	T	0.012418	0.30977	T	0.097	0.27909	.	.	0.559688537222	0.55629	0.2339080848999698	0.23305	0.204442686565	0.22868	0.46943834424	0.34603	T	0.013586	0.11722	T	-0.359319	0.04168	T	-0.329446	0.41530	T	0.0659177178686466	0.08066	T	0.89811	0.64401	D	0.036891542	0.04625	0.07755268	0.17287	0.036891542	0.04625	0.07755268	0.17286	-3.972	0.23383	T	.	.	0.092	0.15743	B	.;.;.;.	.;.;.;.	3.344807	0.46102	22.2	0.9854796658525864	0.42808	0.77771	0.38278	D	AEFDBI	0.331240	0.43103	N	0.211236840862183	0.51743	3.353203	0.304127460984661	0.55781	3.741027	0.420772587105467	0.20289	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.4	5.4	0.77957	1.213000	0.32011	2.207000	0.31336	0.596000	0.33519	0.997000	0.40164	0.999000	0.35428	0.997000	0.79791	0.0:0.9095:0.0:0.0905	10.165	0.42050	784	0.47045	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.008824	0.000000	0.017241	0.000000	0.003788	0.02632	1524.33	43	chr17	4672799	.	C	T	1524.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.24;DP=853;ExcessHet=0;FS=9.398;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.25;ReadPosRankSum=0.215;SOR=0.233	GT:AD:DP:GQ:PL	0/1:57,50:107:99:1538,0,1421	18	0	1	0
chr17	4933915	4933915	A	0	exonic	GP1BA	.	.	.	Bernard-Soulier syndrome, type A1 (recessive), Autosomal recessive;Bernard-Soulier syndrome, type A2 (dominant), Autosomal dominant;von Willebrand disease, platelet-type, Autosomal dominant	1045	137	36	84	220	424	0.426778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7941	2221.85	202	chr17	4933915	.	A	*	2221.85	.	AC=27;AF=0.794;AN=34;BaseQRankSum=1.15;DP=3213;ExcessHet=0.1688;FS=0;InbreedingCoeff=0.103;MLEAC=29;MLEAF=0.853;MQ=59.38;MQRankSum=-0.322;QD=1.2;ReadPosRankSum=2.42;SOR=0.937	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:4,119:123:99:1|1:4933876_GGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCA_G:4717,335,0:4933876	1	11	5	2
chr17	5408818	5408818	C	T	exonic	NUP88	.	nonsynonymous SNV	NUP88:NM_001320653:exon5:c.G772A:p.G258S,NUP88:NM_002532:exon5:c.G772A:p.G258S	.	437	1080	4	1	0	6	0.00277008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.00613577545735	.	.	4.12e-05	0	0	0	0	7.496e-05	0	0	4.53e-05	7	154602	rs765446884	7.936e-05	7.935e-05	6.671e-05	9.214e-05	0.0023	6.734e-05	6.268e-05	0.0013	0.0011	2.989e-05	2.238e-05	0	0	0	0.0023	7.914e-05	0.0002	0	5.255e-05	5.253e-05	7.705e-05	2.689e-05	7.347e-05	2.556e-05	1.83e-05	2.846e-05	1.858e-05	2.412e-05	0	6.545e-05	0	0	0	0	7.347e-05	0.0005	0	.	.	.	0.54	0.09760	T	0.007	0.14184	B	0.024	0.20255	B	0.382517	0.13370	N	0.749772	0.938689	0.26857	N	0.895	0.22405	L	1.06	0.39781	T	.	.	.	0.142	0.14196	-1.0269	0.21462	T	0.046	0.19839	T	9	0.06465414	0.08607	T	0.006136	0.16052	T	.	.	.	.	0.307332253619	0.30352	0.33542874311795995	0.33455	0.0967634086437	0.10922	0.361731052399	0.19638	T	0.022538	0.17359	T	-0.268347	0.11941	T	-0.425595	0.30436	T	0.0537853122997006	0.06152	T	0.689931	0.29934	T	0.030968336	0.02854	0.054092743	0.09236	0.030968336	0.02853	0.054092743	0.09236	-1.79	0.02479	T	0.08042641652098655	0.04056	0.080	0.08802	B	.;.	.;.	2.845767	0.37553	20.5	0.69936045028814087	0.09132	0.62496	0.31799	D	AEFBI	0.089708	0.18183	N	-0.642366874644145	0.17683	0.9120006	-0.473161574046055	0.22896	1.245912	0.918791806171968	0.26583	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.81	2.82	0.32061	0.901000	0.28075	0.082000	0.14403	0.549000	0.26987	0.416000	0.26298	0.015000	0.20450	0.991000	0.66497	0.0:0.7506:0.0:0.2494	8.298	0.31158	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	0.003525	0.000000	0.002717	0.014620	0.000000	0.008621	0.000000	0.000000	0.02632	818.33	35	chr17	5408818	.	C	T	818.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.19;DP=714;ExcessHet=0;FS=1.806;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.63;ReadPosRankSum=1.06;SOR=0.929	GT:AD:DP:GQ:PL	0/1:52,33:85:99:832,0,1243	18	0	1	0
chr17	6756096	6756096	G	-	exonic	XAF1	.	frameshift deletion	XAF1:NM_017523:exon1:c.18delG:p.V7Cfs*9,XAF1:NM_199139:exon1:c.18delG:p.V7Cfs*9,XAF1:NM_001353135:exon2:c.18delG:p.V7Cfs*9	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.647e-05	0	0	0	0	1.498e-05	0	6.057e-05	1.29e-05	2	154602	rs759381230	1.3e-05	1.3e-05	6.806e-06	1.925e-05	0.0012	8.31e-06	6.7e-06	0.0006	0.0004	0	0	0	0	0	0.0012	6.295e-06	1.656e-05	4.638e-05	1.314e-05	1.312e-05	1.286e-05	1.344e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1542.29	38	chr17	6756095	.	CG	C	1542.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.14;DP=776;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.76;ReadPosRankSum=0.163;SOR=0.691	GT:AD:DP:GQ:PL	0/1:43,49:92:99:1556,0,1318	18	0	1	0
chr17	6800775	6800775	C	G	exonic	TEKT1	.	nonsynonymous SNV	TEKT1:NM_053285:exon7:c.G1021C:p.V341L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.254	0.0148905317491	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.74e-06	0.0001	2.726e-06	2.755e-06	3.602e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.602e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.01	0.65728	D	0.554	0.38213	P	0.802	0.58266	P	0.000902	0.41128	D	0.246339	0.603536	0.30920	N	3.065	0.87014	M	3.56	0.04696	T	-2.86	0.60188	D	0.591	0.61087	-1.1171	0.02524	T	0.046	0.19879	T	10	0.87548256	0.86836	D	0.014891	0.35296	T	0.254	0.56428	0.784	0.90768	0.246773566709	0.24272	0.5436249433425214	0.54288	0.388407156696	0.40106	0.465720266104	0.34094	T	0.063408	0.32168	T	-0.0577574	0.43257	T	-0.320741	0.42493	T	0.98490309715271	0.76061	D	0.841416	0.51702	T	0.3524521	0.57257	0.4248366	0.66311	0.3524521	0.57257	0.4248366	0.66311	-7.213	0.55575	T	.	.	0.280	0.51350	B	.	.	3.041864	0.40780	21.2	0.99569122627841022	0.72258	0.87246	0.46727	D	AEFDBHCI	0.189729	0.31698	N	0.250775222256954	0.53677	3.535585	0.210393057645656	0.50423	3.234527	0.999881703001044	0.44867	0.525926	0.21836	0	0.563428	0.19063	0	0.607795	0.38427	0	0.584449	0.35598	0	.	.	5.84	2.75	0.31439	1.756000	0.38018	-0.111000	0.11829	0.599000	0.40250	1.000000	0.71638	0.151000	0.23179	0.983000	0.59808	0.0:0.7763:0.0:0.2237	10.030	0.41269	873	0.30802	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	3208.72	145	chr17	6800775	.	C	G	3208.72	.	AC=9;AF=0.3;AN=30;BaseQRankSum=-1.731;DP=2621;ExcessHet=5.3738;FS=198.068;InbreedingCoeff=-0.4074;MLEAC=10;MLEAF=0.333;MQ=60;MQRankSum=0;QD=2.59;ReadPosRankSum=1.15;SOR=12.21	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:102,38:142:99:.:.:397,0,2735:.	6	0	9	4
chr17	6800776	6800776	C	G	exonic	TEKT1	.	nonsynonymous SNV	TEKT1:NM_053285:exon7:c.G1020C:p.E340D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.326	0.028278372682	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.013	0.63109	D	1.0	0.90584	D	0.999	0.92359	D	0.000002	0.62929	D	0.098481	0.983136	0.42247	D	3.525	0.93020	H	2.96	0.09542	T	-2.88	0.60507	D	0.808	0.80375	-0.9824	0.34445	T	0.107	0.39051	T	10	0.95349437	0.94696	D	0.028278	0.50978	D	0.326	0.64826	0.877	0.96683	0.497481867153	0.49385	0.6113345721572323	0.61065	0.419681481569	0.42513	0.529784560204	0.43004	T	0.202368	0.56052	T	0.124774	0.66848	D	-0.0585471	0.66434	T	0.995554625988007	0.87638	D	0.840516	0.51562	T	0.7195699	0.79137	0.5731973	0.75279	0.7195699	0.79139	0.5731973	0.75280	-8.963	0.67458	D	.	.	0.829	0.78671	P	.	.	3.572194	0.50313	22.9	0.9983085278040047	0.91284	0.84486	0.43568	D	AEFDBHCI	0.220516	0.34526	N	0.55574673951639	0.70432	5.500766	0.423949101341838	0.63059	4.532556	0.999819604160299	0.43459	0.525926	0.21836	0	0.563428	0.19063	0	0.607795	0.38427	0	0.584449	0.35598	0	.	.	5.84	2.8	0.31881	1.605000	0.36426	0.787000	0.21533	0.599000	0.40250	1.000000	0.71638	0.338000	0.24408	0.976000	0.56436	0.0:0.6876:0.0:0.3124	8.074	0.29869	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	.	.	.	.	.	.	.	.	0.1562	914.16	145	chr17	6800776	.	C	G	914.16	.	AC=5;AF=0.156;AN=32;BaseQRankSum=-3.841;DP=2249;ExcessHet=2.0135;FS=154.748;InbreedingCoeff=-0.2489;MLEAC=6;MLEAF=0.188;MQ=60;MQRankSum=0;QD=1.08;ReadPosRankSum=0.72;SOR=10.577	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:102,12:132:17:.:.:249,0,2741:.	11	0	5	3
chr17	7454515	7454515	C	T	exonic	CHRNB1	.	nonsynonymous SNV	CHRNB1:NM_000747:exon8:c.C1039T:p.R347C	Myasthenic syndrome, congenital, 2A, slow-channel, Autosomal dominant	38	1482	2	0	0	2	0.000674309	.	.	.	2869445	Congenital_myasthenic_syndrome_2A|Inborn_genetic_diseases	MONDO:MONDO:0014581,MedGen:C4225374,OMIM:616313,Orphanet:590|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.430	0.0582131831101	.	0.000199681	7.419e-05	0	0	0	0	7.496e-05	0	0.0002	6.47e-05	10	154602	rs201913823	4.037e-05	4.104e-05	2.451e-05	5.639e-05	0.0009	3.179e-05	2.911e-05	0.0003	0.0002	0	6.708e-05	0	0	0	0.0009	2.969e-05	6.624e-05	0.0002	3.941e-05	3.937e-05	5.141e-05	2.687e-05	0.0004	1.715e-05	1.129e-05	7.29e-05	3.029e-05	2.407e-05	0	0	0	0	0	0.0034	2.94e-05	0	0.0004	0.024	0.47745	D	0.031	0.54934	D	0.21	0.29968	B	0.08	0.28873	B	0.005248	0.32962	N	0.280908	0.999765	0.48888	D	2.935	0.84639	M	-0.83	0.88066	T	-6.29	0.90729	D	0.434	0.49783	-0.1987	0.77704	T	0.392	0.74561	T	10	0.68774974	0.71666	D	0.058213	0.67240	D	0.430	0.73662	0.834	0.94231	0.950929833191	0.95040	0.8663969077087028	0.86604	0.748489768835	0.63640	0.360567986965	0.19468	T	0.877482	0.97405	D	-0.0821512	0.39364	T	-0.0961019	0.63698	T	0.487521650999839	0.32173	T	.	.	.	0.43517837	0.63090	0.4141617	0.65568	0.43517837	0.63091	0.4141617	0.65568	-8.629	0.65877	D	.	.	0.257	0.53641	B	.;.;.	.;.;.	4.778136	0.77414	26.7	0.99692048320680193	0.79977	0.89387	0.49821	D	AEFBI	0.558484	0.56769	D	0.171940126847544	0.49854	3.181375	0.217495240256763	0.50819	3.269944	0.999964382401519	0.48965	0.706298	0.61202	0	0.53679	0.11191	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	5.2	3.03	0.34070	1.751000	0.37967	3.922000	0.40477	0.549000	0.26987	0.660000	0.28260	0.999000	0.35428	0.983000	0.59808	0.1861:0.7163:0.0:0.0977	6.082	0.19170	262	0.89730	Neurotransmitter-gated ion-channel transmembrane domain;.;Neurotransmitter-gated ion-channel transmembrane domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.000000	0.02632	860.33	35	chr17	7454515	.	C	T	860.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.89;DP=723;ExcessHet=0;FS=2.27;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.32;ReadPosRankSum=0.999;SOR=0.401	GT:AD:DP:GQ:PL	0/1:45,31:76:99:874,0,1067	18	0	1	0
chr17	7849441	7849441	-	CCTCCATCAGCTCCTGCA	exonic	KDM6B	.	nonframeshift insertion	KDM6B:NM_001080424:exon11:c.3153_3154insCCTCCATCAGCTCCTGCA:p.P1058_S1059insPSAPAP,KDM6B:NM_001348716:exon11:c.3153_3154insCCTCCATCAGCTCCTGCA:p.P1058_S1059insPSAPAP	.	1	1520	1	0	0	1	0.000328839	.	.	.	2405704	Neurodevelopmental_disorder_with_coarse_facies_and_mild_distal_skeletal_abnormalities	MONDO:MONDO:0032790,MedGen:C5193134,OMIM:618505	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.109e-06	4.104e-06	4.088e-06	4.13e-06	5.799e-05	1.48e-06	9.7e-07	2.194e-05	1.43e-05	0	0	0	0	0	0	0	1.658e-05	5.799e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1042.29	44	chr17	7849441	.	C	CCCTCCATCAGCTCCTGCA	1042.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.4;DP=761;ExcessHet=0;FS=3.586;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.37;ReadPosRankSum=-0.319;SOR=0.847	GT:AD:DP:GQ:PL	0/1:32,28:60:99:1056,0,1258	18	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	0.02632	1419.33	33	chr17	8888177	.	T	C	1419.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.16;DP=727;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.83;ReadPosRankSum=1.14;SOR=0.717	GT:AD:DP:GQ:PL	0/1:55,65:120:99:1433,0,1078	18	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	0.02632	415.33	33	chr17	18355980	.	A	T	415.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.125;DP=650;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.23;ReadPosRankSum=0.639;SOR=0.836	GT:AD:DP:GQ:PL	0/1:19,18:37:99:429,0,467	18	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	0.07895	8272.79	35	chr17	18727657	.	G	A	8272.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.9;DP=1254;ExcessHet=0.3672;FS=0.522;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=55.66;MQRankSum=-1.753;QD=12.53;ReadPosRankSum=0.432;SOR=0.703	GT:AD:DP:GQ:PL	0/1:128,86:214:99:2483,0,3187	16	0	3	0
chr17	28963971	28963971	C	T	exonic	SEZ6	.	nonsynonymous SNV	SEZ6:NM_001098635:exon5:c.G1231A:p.V411I,SEZ6:NM_001290202:exon5:c.G856A:p.V286I,SEZ6:NM_178860:exon5:c.G1231A:p.V411I	.	.	.	.	.	.	.	.	.	.	.	727087	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.086	.	0.0034	0.00139776	0.0010	0.0112	0.0006	0	0	7.381e-05	0.0014	0	0.0007697	119	154602	rs200459778	0.0003	0.0003	0.0004	0.0003	0.0104	0.0003	0.0003	0.0095	0.0091	0.0104	0.0006	0	0	3.757e-05	0	7.744e-05	0.0005	1.171e-05	0.0031	0.0031	0.0033	0.0028	0.0103	0.0028	0.0027	0.0095	0.0092	0.0103	0	0.0016	0	0	0.0002	0	4.41e-05	0.0043	0	0.44	0.10623	T	0.497	0.12957	T	0.002	0.09854	B	0.002	0.10090	B	0.571176	0.11237	N	0.796894	1	0.08975	N	0.46	0.12951	N	-0.17	0.65563	T	-0.25	0.11366	N	0.095	0.10483	-1.0343	0.19078	T	0.072	0.29291	T	10	0.010964692	0.00242	T	.	.	.	0.086	0.25016	.	.	0.397691132334	0.39381	0.20600977308282206	0.20517	0.217076454146	0.24225	0.235575377941	0.02405	T	0.008425	0.15887	T	-0.554203	0.00275	T	-0.559455	0.16428	T	0.000214860476706995	0.00001	T	0.587941	0.24302	T	0.018387169	0.00360	0.024402726	0.00459	0.018387169	0.00360	0.024402726	0.00459	-2.319	0.04661	T	.	.	0.071	0.05935	B	.;.;.;.;.	.;.;.;.;.	0.615258	0.09835	6.600	0.72023327078393273	0.09829	0.04495	0.10114	N	AEFBI	0.082177	0.16638	N	-1.09938987755467	0.06655	0.3069585	-0.994247655382478	0.09913	0.4960574	0.86588875281643	0.25317	0.706298	0.61202	0	0.563428	0.19063	0	0.709663	0.75317	0	0.530356	0.10902	0	.	.	5.57	0.844	0.18083	-1.103000	0.03440	-0.686000	0.07862	-0.795000	0.03215	0.000000	0.06391	0.000000	0.08366	0.113000	0.18872	0.0:0.5196:0.1381:0.3424	5.694	0.17116	298	0.88068	.;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	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.001511	0.005051	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1380.33	38	chr17	28963971	.	C	T	1380.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.09;DP=832;ExcessHet=0;FS=1.818;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15;ReadPosRankSum=0.34;SOR=0.936	GT:AD:DP:GQ:PL	0/1:44,48:92:99:1394,0,1045	18	0	1	0
chr17	30844027	30844027	A	G	exonic	ATAD5	.	nonsynonymous SNV	ATAD5:NM_024857:exon5:c.A2356G:p.K786E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.340	0.252112587211	.	0.00119808	0.0003	0	0	0	0	0	0	0.0025	0.0002717	42	154602	rs564565220	0.0001	0.0001	5.442e-05	0.0002	0.0021	0.0001	9.623e-05	0.0018	0.0017	0	0	0	0	0	0	1.849e-06	0.0001	0.0021	0.0001	0.0001	2.569e-05	0.0002	0.0033	6.505e-05	5.317e-05	0.0021	0.0017	0	0	0	0	0	0	0	0	0	0.0033	0.0	0.91255	D	0.141	0.33442	T	1.0	0.90584	D	0.995	0.83170	D	0.332880	0.14085	N	0.717261	0.887121	0.35872	D	2.455	0.71248	M	-3.3	0.93787	D	-2.13	0.48354	N	0.263	0.29774	0.607	0.91996	D	0.838	0.94589	D	10	0.01957643	0.00439	T	0.252113	0.89159	D	0.340	0.66202	0.273	0.22369	0.700797730816	0.69820	0.22790535983258609	0.22705	0.328560466209	0.34964	0.598219394684	0.52653	T	0.358078	0.72469	T	-0.225863	0.17200	T	-0.103689	0.63110	T	0.300280090814172	0.25015	T	0.549745	0.18930	T	0.28204355	0.51244	0.2846241	0.54462	0.28204355	0.51244	0.2846241	0.54461	-4.36	0.29010	T	.	.	0.121	0.24967	B	.	.	2.979942	0.39743	21.0	0.67775615150747748	0.08456	0.91005	0.52675	D	AEFBI	0.227525	0.35132	N	0.244206437908079	0.53353	3.504543	0.137708324946844	0.46494	2.89451	0.0135049864811594	0.12473	0.651	0.46895	0	0.653731	0.59785	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.67	3.46	0.38718	3.851000	0.55634	4.488000	0.43560	0.642000	0.52262	1.000000	0.71638	1.000000	0.68203	0.114000	0.18915	0.8336:0.0:0.1664:0.0	7.743	0.28019	682	0.59757	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	350.33	21	chr17	30844027	.	A	G	350.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.55;DP=626;ExcessHet=0;FS=1.21;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.22;ReadPosRankSum=0.79;SOR=0.914	GT:AD:DP:GQ:PL	0/1:20,18:38:99:364,0,380	18	0	1	0
chr17	32659167	32659167	G	A	exonic	MYO1D	.	nonsynonymous SNV	MYO1D:NM_001303279:exon17:c.C2293T:p.P765S,MYO1D:NM_015194:exon17:c.C2293T:p.P765S	.	430	1062	29	1	0	31	0.0143852	.	.	.	727101	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.553	.	0.0058	0.00479233	0.0028	0.0117	0.0008	0.0003	0	0.0015	0.0044	0.0057	0.0026714	413	154602	rs7209106	0.0016	0.0016	0.0015	0.0018	0.0232	0.0016	0.0016	0.0200	0.0188	0.0136	0.0011	0.0008	7.557e-05	5.616e-05	0.0232	0.0009	0.0029	0.0060	0.0040	0.0040	0.0040	0.0040	0.0112	0.0038	0.0037	0.0104	0.0101	0.0112	0	0.0012	0	0.0004	0	0.0102	0.0013	0.0057	0.0054	0.125	0.27310	T	0.214	0.30143	T	0.776	0.44148	P	0.327	0.41976	B	0.001388	0.39175	U	0.000000	1	0.81001	D	2.285	0.65182	M	-2.23	0.88298	D	-4.8	0.80682	D	0.546	0.57263	0.351	0.88360	D	0.656	0.88023	D	10	0.008619487	0.00195	T	.	.	.	0.553	0.81544	.	.	0.928114125945	0.92738	0.6803579163466393	0.67974	0.425124690016	0.42928	0.49696803093	0.38405	T	0.294422	0.66710	T	-0.14127	0.29687	T	0.0353296	0.72624	D	0.0387319247505161	0.03462	T	0.946205	0.79569	D	0.16669247	0.37021	0.22630909	0.47604	0.16669247	0.37020	0.22630909	0.47603	-5.781	0.44408	T	.	.	0.277	0.54926	B	.;.;.	.;.;.	4.284750	0.65301	24.8	0.99733506155297436	0.82975	0.95800	0.66207	D	AEFGBCI	0.953144	0.96919	D	0.685769160214298	0.78699	6.924677	0.730453856576185	0.84689	8.363094	0.999999999995204	0.74766	0.719381	0.83141	0	0.724815	0.89359	0	0.630245	0.45026	0	0.733575	0.97253	0	.	.	6.07	6.07	0.98675	7.973000	0.87648	11.824000	0.97325	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:1.0:0.0	18.153	0.89614	917	0.20147	.;.;.	.	.	.	.	.	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	0.007049	0.000000	0.009511	0.011696	0.000000	0.008621	0.006098	0.000000	0.02632	1162.33	38	chr17	32659167	.	G	A	1162.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.539;DP=756;ExcessHet=0;FS=8.452;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.15;ReadPosRankSum=0.457;SOR=0.433	GT:AD:DP:GQ:PL	0/1:77,50:127:99:1176,0,2063	18	0	1	0
chr17	36254418	36254418	G	A	exonic	TBC1D3D;TBC1D3H;TBC1D3I	.	nonsynonymous SNV	TBC1D3H:NM_001123392:exon14:c.C1186T:p.R396W,TBC1D3I:NM_001291463:exon14:c.C1186T:p.R396W,TBC1D3D:NM_001291465:exon14:c.C1186T:p.R396W	.	472	1045	5	0	0	5	0.00238663	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1377294166	0.0052	0.0079	0.0053	0.0050	0.0248	0.0050	0.0050	0.0235	0.0229	0.0004	0.0009	0.0023	0.0248	0.0039	0.0018	0.0049	0.0059	0.0023	0.0041	0.0057	0.0041	0.0040	0.0287	0.0038	0.0036	0.0243	0.0227	0.0006	0.0084	0.0013	0.0028	0.0287	0.0060	0	0.0050	0.0062	0.0033	.	.	.	0.102	0.38450	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	0.10056	.	.	.	.	.	.	.	0.005789131	0.00129	T	.	.	.	.	.	.	.	.	.	0.06396651016620454	0.06335	.	.	.	.	.	0.065103	0.32604	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-5.011	0.36959	T	.	.	0.093	0.13969	B	.	.	1.514077	0.19445	14.27	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.383000	0.07456	-0.813000	0.07327	0.193000	0.17869	0.001000	0.13787	0.000000	0.08366	0.112000	0.18829	.	.	.	824	0.40336	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	129.65	8	chr17	36254418	.	G	A	129.65	.	AC=2;AF=0.056;AN=36;BaseQRankSum=3.2;DP=284;ExcessHet=0.1259;FS=0;InbreedingCoeff=-0.0603;MLEAC=2;MLEAF=0.056;MQ=25.32;MQRankSum=0.939;QD=3.6;ReadPosRankSum=1.76;SOR=0.12	GT:AD:DP:GQ:PL	0/1:12,4:16:53:53,0,268	16	0	2	1
chr17	37257713	37257713	C	T	exonic	ACACA	.	nonsynonymous SNV	ACACA:NM_198837:exon12:c.G1531A:p.E511K,ACACA:NM_198838:exon13:c.G1471A:p.E491K,ACACA:NM_198834:exon14:c.G1816A:p.E606K,ACACA:NM_198836:exon14:c.G1705A:p.E569K,ACACA:NM_198839:exon18:c.G1705A:p.E569K	Acetyl-CoA carboxylase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.692	0.0171503242482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.439	0.17696	T	0.746	0.44790	P	0.557	0.55725	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.885	0.50048	L	.	.	.	.	.	.	0.862	0.85872	0.107	0.84300	D	0.637	0.87289	D	10	0.7375028	0.74723	D	0.01715	0.38730	T	.	.	0.467	0.53891	0.877869702975	0.87668	0.9836152231955558	0.98353	.	.	0.872255206108	0.92889	D	0.780159	0.94189	D	0.432308	0.91648	D	0.383204	0.91545	D	0.977236747741699	0.71748	D	.	.	.	0.81459284	0.84857	0.6431959	0.79147	0.81459284	0.84859	0.6431959	0.79148	-9.549	0.74745	D	.	.	0.857	0.80134	P	.;.;.;.	.;.;.;.	5.294357	0.88888	29.8	0.9986442591158583	0.94276	0.98597	0.84519	D	AEFBI	0.820385	0.74119	D	0.627107990343815	0.74894	6.211086	0.69699622420893	0.82148	7.696462	0.999999997971713	0.74766	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.733575	0.97253	0	.	.	5.93	5.93	0.95888	7.905000	0.86479	7.642000	0.63248	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	19.342	0.94335	689	0.59000	.;.;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4737	11138.3	106	chr17	37257713	.	C	T	11138.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=0.65;DP=1868;ExcessHet=38.2876;FS=429.8;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=6.26;ReadPosRankSum=-0.138;SOR=13.755	GT:AD:DP:GQ:PL	0/1:42,59:101:99:658,0,551	1	0	18	0
chr17	39665718	39665718	G	T	exonic	TCAP	.	nonsynonymous SNV	TCAP:NM_003673:exon2:c.G113T:p.C38F	Cardiomyopathy, hypertrophic, 25, Autosomal dominant;Muscular dystrophy, limb-girdle, type 2G, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	198471	not_specified|Cardiovascular_phenotype|Primary_familial_hypertrophic_cardiomyopathy|Hypertrophic_cardiomyopathy_25|Hypertrophic_cardiomyopathy|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2G|not_provided	MedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:155|MONDO:MONDO:0011843,MedGen:C4225408,OMIM:607487|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|MONDO:MONDO:0011170,MedGen:C1866008,OMIM:601954,Orphanet:34514|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.637	0.158703312849	0.0002	.	0.0002	0	0.0003	0	0	0.0002	0	0	0.00011	17	154602	rs375310569	0.0001	0.0001	0.0001	8.834e-05	0.0047	8.742e-05	8.227e-05	0.0033	0.0028	8.969e-05	0.0002	0	2.523e-05	0	0.0047	9.184e-05	8.305e-05	0	7.224e-05	7.218e-05	7.71e-05	6.715e-05	0.0002	3.969e-05	3.126e-05	5.281e-05	2.834e-05	0	0	0.0002	0	0	0	0.0034	7.353e-05	0.0009	0	0.523	0.07187	T	0.397	0.15157	T	0.988	0.62325	D	0.898	0.63708	P	0.000009	0.62929	D	0.122062	0.999991	0.58761	D	2.125	0.59049	M	-2.36	0.88143	D	-5.08	0.82896	D	0.296	0.48227	0.367	0.88593	D	0.674	0.88714	D	10	0.4545699	0.58909	T	0.158703	0.83904	D	0.637	0.86130	.	.	0.974897511524	0.97462	0.3451868843676257	0.34432	1.17954550711	0.79986	0.476928323507	0.35634	T	0.816411	0.95465	D	-0.0433708	0.45447	T	0.00164578	0.70442	D	0.374176114797592	0.27959	T	0.731927	0.34732	T	0.56536424	0.70806	0.5012083	0.71164	0.56536424	0.70807	0.5012083	0.71165	-3.397	0.15016	T	0.18647059994476767	0.24273	0.156	0.39664	B	.;.	.;.	4.210710	0.63609	24.6	0.84880132744283354	0.15552	0.87571	0.47154	D	AEFDGBHCI	0.927577	0.91046	D	0.403266126143953	0.61602	4.363518	0.429661888079662	0.63419	4.575476	0.999999999999735	0.74766	0.62174	0.39705	0	0.759151	0.99529	0	0.584781	0.30282	0	0.599892	0.37169	0	.	.	5.71	5.71	0.89031	2.978000	0.48996	8.639000	0.77885	0.676000	0.76740	0.960000	0.33603	1.000000	0.68203	0.206000	0.22070	0.0:0.0:1.0:0.0	18.616	0.91258	632	0.64850	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005247	0.000000	0.001362	0.023179	0.000000	0.008772	0.000000	0.000000	0.05263	1392.83	44	chr17	39665718	.	G	T	1392.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.522;DP=769;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.7;ReadPosRankSum=0.339;SOR=0.648	GT:AD:DP:GQ:PL	0/1:37,35:72:99:924,0,1052	17	0	2	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	0.02632	2037.33	38	chr17	40993808	.	C	T	2037.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.666;DP=809;ExcessHet=0;FS=0.606;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.01;MQRankSum=-0.17;QD=13.32;ReadPosRankSum=0.394;SOR=0.605	GT:AD:DP:GQ:PL	0/1:75,78:153:99:2051,0,1962	18	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	0.02632	2066.33	34	chr17	41350572	.	G	A	2066.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.27;DP=1224;ExcessHet=0;FS=2.862;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.76;ReadPosRankSum=0.523;SOR=0.94	GT:AD:DP:GQ:PL	0/1:91,71:162:99:2080,0,2407	18	0	1	0
chr17	43209576	43209576	C	T	exonic	NBR1	.	nonsynonymous SNV	NBR1:NM_001291571:exon21:c.C2747T:p.S916L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.00247799293091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.892e-06	2.736e-06	0	5.862e-06	5.049e-05	6.8e-07	4.6e-07	1.678e-05	9.94e-06	0	0	0	0	0	0	0	0	5.049e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	0.89	0.45636	T	.	.	.	0.231	0.25989	-1.0011	0.29602	T	0.077	0.30828	T	7	0.083803385	0.13980	T	0.002478	0.04925	T	.	.	0.34	0.33141	0.177238962908	0.17366	.	.	.	.	.	.	.	.	.	.	-0.208605	0.19577	T	-0.537423	0.18551	T	0.0225476848085301	0.00970	T	0.474053	0.14146	T	.	.	.	.	.	.	.	.	-2.953	0.09684	T	.	.	0.104	0.18705	B	.	.	0.197311	0.05827	2.267	0.68196843098406135	0.08585	0.03259	0.08291	N	AEFBI	0.040444	0.06017	N	-0.901074322236357	0.10816	0.5188141	-0.995857017767948	0.09878	0.4940473	4.44860287574638E-4	0.07004	0.475973	0.10046	0	0.601575	0.49859	0	0.463624	0.06942	0	0.221012	0.04332	2	.	.	3.12	0.668	0.17081	-0.683000	0.05280	-0.427000	0.09246	0.530000	0.24713	0.000000	0.06391	0.000000	0.08366	0.146000	0.20164	0.0:0.7932:0.0:0.2068	6.907	0.23497	505	0.75648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1071	431.39	47	chr17	43209576	.	C	T	431.39	.	AC=3;AF=0.107;AN=28;BaseQRankSum=-2.417;DP=821;ExcessHet=0.3672;FS=184.512;InbreedingCoeff=-0.1723;MLEAC=4;MLEAF=0.143;MQ=60;MQRankSum=0;QD=2.57;ReadPosRankSum=0.944;SOR=7.864	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:32,14:46:99:0|1:43209576_C_T:165,0,935:43209576	11	0	3	5
chr17	46171509	46171509	T	C	exonic	KANSL1	.	nonsynonymous SNV	KANSL1:NM_001193466:exon2:c.A635G:p.H212R,KANSL1:NM_015443:exon2:c.A635G:p.H212R,KANSL1:NM_001193465:exon3:c.A635G:p.H212R,KANSL1:NM_001379198:exon3:c.A635G:p.H212R	Koolen-De Vries syndrome, Autosomal dominant	0	1520	2	0	0	2	0.000657462	.	.	.	203435	Koolen-de_Vries_syndrome|Inborn_genetic_diseases|not_provided	MONDO:MONDO:0012496,MedGen:C1864871,OMIM:610443,Orphanet:96169|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.135	0.00610514826121	0.0002	0.000399361	0.0004	0	0	0	0	0.0005	0.0011	0.0010	0.0003816	59	154602	rs141110759	0.0004	0.0004	0.0004	0.0005	0.0010	0.0004	0.0004	0.0008	0.0008	0	2.237e-05	7.653e-05	5.038e-05	9.363e-05	0.0007	0.0005	0.0004	0.0010	0.0004	0.0004	0.0004	0.0004	0.0023	0.0003	0.0003	0.0013	0.0010	4.813e-05	0	6.534e-05	0.0003	0	9.414e-05	0	0.0007	0	0.0023	0.155	0.24183	T	0.481	0.11899	T	.	.	.	.	.	.	0.000004	0.62929	D	0.107759	0.75684	0.81001	D	.	.	.	2.76	0.11515	T	-1.37	0.33998	N	0.581	0.62866	-1.0683	0.09791	T	0.030	0.12935	T	10	0.03336528	0.01511	T	0.006105	0.15964	T	0.135	0.36572	.	.	0.182106788282	0.17826	0.13243438590949957	0.13167	0.0201285817596	0.01973	0.551302194595	0.46041	T	.	.	.	-0.286007	0.10040	T	-0.248361	0.49978	T	0.0661847228434284	0.08105	T	0.80472	0.45238	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.25067	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	2.923471	0.38820	20.8	0.95464049232388237	0.27001	0.91176	0.53009	D	AEFBCI	0.380645	0.46321	N	0.122064048461742	0.47495	2.974311	0.258479791077075	0.53133	3.483799	0.999999947270713	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.696144	0.63334	0	0.714379	0.83352	0	.	.	6.04	4.9	0.63643	2.421000	0.44343	6.136000	0.53985	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.1587:0.8413	10.765	0.45488	169	0.93437	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	2133.33	41	chr17	46171509	.	T	C	2133.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.447;DP=1202;ExcessHet=0;FS=0.523;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.67;ReadPosRankSum=0.235;SOR=0.742	GT:AD:DP:GQ:PL	0/1:107,93:200:99:2147,0,2887	18	0	1	0
chr17	50197978	50197978	G	C	exonic	COL1A1	.	nonsynonymous SNV	COL1A1:NM_000088:exon8:c.C613G:p.P205A	Caffey disease, Autosomal dominant;Ehlers-Danlos syndrome, classic, Autosomal dominant;Ehlers-Danlos syndrome, type VIIA, Autosomal dominant;Osteogenesis imperfecta, type I, Autosomal dominant;Osteogenesis imperfecta, type II, Autosomal dominant;Osteogenesis imperfecta, type III, Autosomal dominant;Osteogenesis imperfecta, type IV, Autosomal dominant	0	1504	18	0	0	18	0.00594845	.	.	YES	215539	Ehlers-Danlos_syndrome,_arthrochalasia_type|Osteogenesis_imperfecta|Infantile_cortical_hyperostosis|Osteogenesis_imperfecta_type_I|Connective_tissue_disorder|not_specified|Cardiovascular_phenotype|not_provided|Ehlers-Danlos_syndrome	MONDO:MONDO:0007525,MedGen:C4551623,OMIM:130060,Orphanet:1899,Orphanet:99875,Orphanet:99876|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200,Orphanet:666|MONDO:MONDO:0007244,MedGen:C0020497,OMIM:114000,Orphanet:1310|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200,Orphanet:216796,Orphanet:666|MONDO:MONDO:0003900,MedGen:C0009782|MedGen:CN169374|MedGen:CN230736|MedGen:C3661900|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.602	0.0403897260851	0.0041	0.00179712	0.0036	0.0014	0.0006	0	0.0021	0.0050	0.0011	0.0040	0.0035122	543	154602	rs72667032	0.0051	0.0051	0.0051	0.0051	0.0059	0.0050	0.0050	0.0058	0.0058	0.0008	0.0008	0.0027	0	0.0021	0.0024	0.0059	0.0046	0.0045	0.0033	0.0033	0.0034	0.0032	0.0050	0.0031	0.0030	0.0045	0.0043	0.0013	0.0208	0.0013	0.0037	0.0002	0.0035	0	0.0050	0.0024	0.0048	0.236	0.17940	T	0.092	0.39954	T	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999859	0.49910	D	.	.	.	-4.05	0.96496	D	-3.99	0.73893	D	0.753	0.75192	0.429	0.89525	D	0.755	0.91641	D	10	0.026518553	0.00816	T	0.04039	0.59348	D	0.602	0.84291	.	.	0.959868584311	0.95944	0.5582512967563458	0.55752	0.544322101214	0.51483	0.65260720253	0.60356	T	.	.	.	-0.0113856	0.50071	T	0.212788	0.83808	D	0.0795630267393425	0.09930	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.00011	B	.	.	2.829041	0.37287	20.5	0.93909509931218083	0.23944	0.92327	0.55456	D	AEFBCI	0.712180	0.66538	D	-0.0641915890927482	0.38971	2.291	0.0523499452591589	0.42186	2.547244	0.999999985969376	0.74766	0.706548	0.73137	0	0.547309	0.14657	0	0.724815	0.87919	0	0.620976	0.48614	0	.	.	4.38	3.37	0.37692	6.404000	0.73190	6.596000	0.56041	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.1599:0.8401:0.0	13.371	0.60157	896	0.25515	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	955.33	34	chr17	50197978	.	G	C	955.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.965;DP=704;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.37;ReadPosRankSum=-0.807;SOR=0.712	GT:AD:DP:GQ:PL	0/1:45,39:84:99:969,0,1349	18	0	1	0
chr17	54903721	54903721	T	A	exonic	TOM1L1	.	nonsynonymous SNV	TOM1L1:NM_001321173:exon2:c.T72A:p.F24L,TOM1L1:NM_005486:exon2:c.T72A:p.F24L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.127	0.0046889094826	.	.	1.653e-05	0	0	0	0	1.504e-05	0	6.081e-05	1.29e-05	2	154602	rs753638547	1.231e-05	1.231e-05	9.528e-06	1.513e-05	0.0002	7.7e-06	6.35e-06	1.583e-05	9.3e-06	0	0	0	0	0	0.0002	8.094e-06	6.623e-05	4.637e-05	1.969e-05	1.968e-05	0	4.027e-05	0.0002	5.24e-06	2.45e-06	.	.	0	0	0	0	0	0	0	1.47e-05	0.0005	0.0002	0.454	0.08891	T	0.654	0.06738	T	0.128	0.27003	B	0.012	0.16012	B	0.082471	0.20807	N	0.484707	0.983476	0.81001	D	1.61	0.41143	L	2.0	0.21473	T	-2.39	0.52612	N	0.2	0.25006	-1.0871	0.06030	T	0.036	0.15509	T	10	0.2132701	0.37813	T	0.004689	0.11660	T	0.127	0.34888	0.483	0.56462	0.249502417897	0.24576	0.28816725516264374	0.28729	0.151625667694	0.17110	0.713529109955	0.69104	T	0.083343	0.37033	T	-0.182445	0.23372	T	-0.402992	0.33036	T	0.182561129331589	0.19396	T	0.585741	0.21356	T	0.22031257	0.44583	0.1214675	0.29307	0.22031257	0.44583	0.1214675	0.29306	-3.07	0.13621	T	.	.	0.832	0.79563	P	.;.;.;.;.;.	.;.;.;.;.;.	2.445883	0.31484	18.76	0.99399331792294399	0.62702	0.77998	0.38419	D	AEFDBHCIJ	0.603016	0.59465	D	-0.213060783260108	0.32598	1.840062	-0.0478909149572738	0.37581	2.202409	0.999999765641107	0.74766	0.660085	0.49399	0	0.593476	0.48661	0	0.662677	0.59975	0	0.668105	0.65232	0	.	.	6.02	3.8	0.42887	0.097000	0.15007	2.816000	0.34935	0.665000	0.62972	0.992000	0.37556	1.000000	0.68203	0.997000	0.79791	0.0:0.1713:0.0:0.8287	7.173	0.24905	730	0.54327	.;VHS domain|VHS domain|VHS domain;VHS domain|VHS domain|VHS domain;VHS domain|VHS domain|VHS domain;.;VHS domain|VHS domain|VHS domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	932.33	33	chr17	54903721	.	T	A	932.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.22;DP=702;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.95;ReadPosRankSum=-0.045;SOR=0.698	GT:AD:DP:GQ:PL	0/1:40,38:78:99:946,0,927	18	0	1	0
chr17	58252357	58252357	G	A	exonic	LPO	.	nonsynonymous SNV	LPO:NM_001160102:exon6:c.G707A:p.R236H,LPO:NM_006151:exon8:c.G956A:p.R319H	.	423	1097	2	0	0	2	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.031472053428	0.0002	0.000199681	0.0002	9.69e-05	0	0.0029	0	3.008e-05	0	0.0001	0.000207	32	154602	rs147457460	7.661e-05	7.661e-05	7.487e-05	7.838e-05	0.0010	6.49e-05	6.07e-05	0.0008	0.0007	2.987e-05	2.236e-05	0.0004	0.0010	1.873e-05	0.0002	4.137e-05	9.934e-05	5.797e-05	0.0002	0.0002	0.0001	0.0002	0.0023	0.0001	0.0001	0.0013	0.0010	9.632e-05	0	0	0.0003	0.0023	0	0	8.823e-05	0.0009	0.0002	0.047	0.58626	D	0.144	0.38450	T	0.398	0.34801	B	0.046	0.24676	B	0.031628	0.25141	N	0.457447	1	0.08975	N	1.85	0.49092	L	-0.44	0.69777	T	-1.92	0.44657	N	0.336	0.38541	-0.8264	0.53531	T	0.203	0.55989	T	10	0.020574361	0.00476	T	0.031472	0.53543	D	0.143	0.38195	.	.	0.851833584756	0.85040	0.44770665867799775	0.44688	0.52810492468	0.50404	0.454822599888	0.32603	T	0.195998	0.55225	T	-0.376104	0.03296	T	-0.314497	0.43174	T	0.0376552664054212	0.03271	T	0.243776	0.09684	T	0.13721398	0.31779	0.09333564	0.22042	0.13721398	0.31779	0.09333564	0.22041	-4.696	0.36336	T	.	.	0.077	0.08705	B	.;.;.;.	.;.;.;.	3.432527	0.47710	22.5	0.99599546319648469	0.74101	0.18353	0.20225	N	AEFDBI	0.252747	0.37237	N	-0.110609965469054	0.36929	2.141414	-0.0391182971932225	0.37966	2.230161	0.992117701142733	0.32724	0.497415	0.19182	0	0.59043	0.45803	0	0.563428	0.18855	0	0.530356	0.10902	0	.	.	5.3	4.12	0.47504	0.905000	0.28127	2.973000	0.35807	0.671000	0.69459	0.000000	0.06391	0.751000	0.26551	0.985000	0.61073	0.0885:0.0:0.7598:0.1517	8.877	0.34508	316	0.87161	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.02632	2074.33	33	chr17	58252357	.	G	A	2074.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.255;DP=757;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.86;ReadPosRankSum=1.74;SOR=0.681	GT:AD:DP:GQ:PL	0/1:49,74:123:99:2088,0,1232	18	0	1	0
chr17	58358683	58358683	C	T	exonic	RNF43	.	nonsynonymous SNV	RNF43:NM_001305545:exon8:c.G712A:p.A238T,RNF43:NM_001305544:exon9:c.G1093A:p.A365T,RNF43:NM_017763:exon9:c.G1093A:p.A365T	Sessile serrated polyposis cancer syndrome, Autosomal dominant	412	1104	6	0	0	6	0.00271003	.	.	.	1158056	not_provided|Hyperplastic_polyposis_syndrome|not_specified	MedGen:C3661900|MONDO:MONDO:0015524,MedGen:C4296896,Orphanet:157798|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.003	.	0.0002	0.00439297	0.0062	0.0004	0.0014	0.0662	0.0039	0.0002	0.025	0.0057	0.0019663	304	154602	rs79309393	0.0011	0.0011	0.0010	0.0011	0.0257	0.0010	0.0010	0.0244	0.0238	0.0001	0	0.0003	0.0257	0.0020	0.0005	0.0001	0.0028	0.0019	0.0017	0.0017	0.0014	0.0020	0.0345	0.0015	0.0015	0.0304	0.0288	0.0002	0	0.0014	0.0003	0.0345	0.0023	0	0.0001	0.0033	0.0021	0.398	0.10553	T	0.63	0.08189	T	0.0	0.02946	B	0.001	0.06944	B	0.586660	0.05567	N	1.225170	1	0.08975	N	1.01	0.25309	L	3.17	0.10771	T	0.16	0.05217	N	0.038	0.02462	-0.9451	0.41797	T	0.005	0.01688	T	10	0.0019725263	0.00027	T	.	.	.	0.003	0.00094	.	.	0.119812018005	0.11559	0.2771556330430243	0.27628	0.389048011614	0.40154	0.479608386755	0.36002	T	0.019812	0.15712	T	-0.765704	0.00014	T	-0.838349	0.01124	T	0.00372042678622892	0.00039	T	0.605039	0.22725	T	0.034145445	0.03776	0.050626077	0.07985	0.03314893	0.03476	0.05229166	0.08585	-4.301	0.28664	T	.	.	0.071	0.03811	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.759730	0.01189	0.058	0.76176809036314519	0.11363	0.02724	0.07388	N	AEFDBI	0.065353	0.12743	N	-1.64575969625381	0.01053	0.04568977	-1.73526804440656	0.00990	0.04435794	0.999999973144572	0.74766	0.517182	0.21443	0	0.379588	0.06130	0	0.478664	0.07449	1	0.542086	0.14980	0	.	.	3.84	-7.49	0.01212	-0.740000	0.04966	-0.049000	0.12570	-1.896000	0.00528	0.000000	0.06391	0.000000	0.08366	0.172000	0.21044	0.4087:0.1873:0.2174:0.1866	0.795	0.00996	308	0.87611	.;.;.;.;.;.	.	.	.	.	.	Likely benign	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	0.002037	0.000000	0.000000	0.000000	0.000000	0.000000	0.006211	0.007634	0.02632	686.33	39	chr17	58358683	.	C	T	686.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.141;DP=753;ExcessHet=0;FS=0.994;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.25;ReadPosRankSum=0.058;SOR=0.954	GT:AD:DP:GQ:PL	0/1:35,26:61:99:700,0,1067	18	0	1	0
chr17	61869976	61869976	C	G	exonic	INTS2	.	nonsynonymous SNV	INTS2:NM_001330417:exon21:c.G2791C:p.V931L,INTS2:NM_001351695:exon21:c.G2791C:p.V931L,INTS2:NM_020748:exon21:c.G2815C:p.V939L	.	432	1088	2	0	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.226	0.0436625073757	.	0.000599042	0.0004	0	0	0	0	0.0001	0	0.0026	0.0003428	53	154602	rs563606143	0.0002	0.0002	0.0001	0.0002	0.0022	0.0002	0.0001	0.0019	0.0018	0	6.71e-05	7.656e-05	0	0	0.0011	3.868e-05	0.0001	0.0022	8.535e-05	9.186e-05	0.0001	6.714e-05	0.0017	4.953e-05	3.96e-05	0.0008	0.0006	2.406e-05	0	0.0002	0	0	0	0	1.47e-05	0	0.0017	0.034	0.44029	D	0.013	0.63109	D	0.902	0.49745	P	0.927	0.66185	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.975	0.53506	M	0.28	0.59037	T	-2.27	0.50666	N	0.741	0.74098	-0.3498	0.73560	T	0.390	0.74430	T	9	0.018734217	0.00410	T	0.043663	0.61100	D	0.226	0.52472	0.249	0.18602	0.629431430265	0.62640	0.5206956201197347	0.51992	0.749106476794	0.63673	0.762526273727	0.76306	T	0.104567	0.41425	T	-0.107445	0.35191	T	0.067339	0.74732	D	0.0998188480734825	0.12338	T	0.951605	0.81505	D	0.76909184	0.81994	0.4571821	0.68453	0.76909184	0.81995	0.4571821	0.68454	-5.782	0.44417	T	.	.	0.694	0.75282	P	.;.;.;.	.;.;.;.	3.910674	0.57033	23.8	0.99828437966806061	0.91026	0.99042	0.90377	D	AEFBI	0.855138	0.77223	D	0.759547074912791	0.83524	8.040	0.754815842226318	0.86515	8.914408	0.999998722295683	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	5.46	5.46	0.80021	7.537000	0.80946	7.650000	0.63651	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.299	0.90099	40	0.97949	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	2514.83	34	chr17	61869976	.	C	G	2514.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.69;DP=785;ExcessHet=0.119;FS=4.332;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.27;ReadPosRankSum=-0.065;SOR=0.999	GT:AD:DP:GQ:PL	0/1:60,45:105:99:1327,0,1587	17	0	2	0
chr17	61968034	61968034	C	A	splicing	MED13	NM_005121:exon18:c.4191+1G>T	.	.	.	.	.	.	.	.	.	.	1.0000	0.938	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.456739	0.92777	D	0.418298	0.92688	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.387992	0.95128	34	0.99434305550024649	0.64423	0.99019	0.90044	D	AEFDGBI	.	.	.	1.18346581302745	0.99385	22.32749	1.03762206024886	0.99231	21.357	0.999999999803192	0.74766	0.156188	0.03335	0	0.156173	0.03658	0	0.128073	0.03558	0	0.089874	0.02613	0	0.978971	0.83387	5.44	5.44	0.79348	7.568000	0.81546	7.706000	0.66547	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	19.245	0.93883	91	0.96221	.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1316	691.29	68	chr17	61968034	.	C	A	691.29	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-0.705;DP=1218;ExcessHet=25.4433;FS=198.029;InbreedingCoeff=-0.6911;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=0.76;ReadPosRankSum=1.43;SOR=10.515	GT:AD:DP:GQ:PL	0/1:35,11:55:20:20,0,648	14	0	5	0
chr17	63545170	63545170	C	A	exonic	KCNH6	.	nonsynonymous SNV	KCNH6:NM_001278919:exon12:c.C2489A:p.A830D,KCNH6:NM_001278920:exon12:c.C2120A:p.A707D,KCNH6:NM_030779:exon13:c.C2597A:p.A866D,KCNH6:NM_173092:exon13:c.C2330A:p.A777D	.	419	1087	16	0	0	16	0.00730594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.367	0.28902848351	.	0.00159744	0.0014	0.0002	0.0010	0	0	0.0004	0.0022	0.0080	0.0011837	183	154602	rs146648647	0.0008	0.0008	0.0005	0.0011	0.0093	0.0008	0.0008	0.0087	0.0085	2.987e-05	0.0006	0	2.519e-05	1.885e-05	0.0045	0.0002	0.0010	0.0093	0.0005	0.0005	0.0005	0.0005	0.0072	0.0004	0.0004	0.0054	0.0047	7.215e-05	0	0.0004	0	0	0	0	0.0004	0.0009	0.0072	0.01	0.56456	D	0.175	0.29945	T	0.277	0.34388	B	0.143	0.33763	B	0.013364	0.28863	N	0.328689	0.999433	0.21230	N	1.355	0.33814	L	-5.94	0.99456	D	-1.05	0.27463	N	0.257	0.29313	0.734	0.93600	D	0.915	0.97170	D	10	0.007865697	0.00179	T	0.289028	0.90498	D	0.367	0.68670	.	.	0.643961431749	0.64101	0.39785121735806944	0.39700	0.321312189581	0.34332	0.299728453159	0.10360	T	0.10268	0.41063	T	-0.245589	0.14645	T	-0.119434	0.61850	T	0.0157242416570985	0.00364	T	0.737426	0.35417	T	0.12717558	0.29768	0.13672428	0.32699	0.12717558	0.29768	0.13672428	0.32698	-4.885	0.40081	T	.	.	0.114	0.22680	B	.;.;.;.	.;.;.;.	1.081331	0.14642	11.20	0.90174368681605954	0.19450	0.91553	0.53771	D	AEFBI	0.355748	0.44737	N	-0.713888070430966	0.15630	0.7894164	-0.707119628019298	0.16783	0.8894742	0.808120538033174	0.24307	0.57788	0.32782	0	0.573888	0.26702	0	0.608075	0.38828	0	0.542086	0.14980	0	.	.	5.55	2.36	0.28258	1.859000	0.39058	0.512000	0.19089	-0.182000	0.10109	0.721000	0.28831	0.048000	0.21764	0.009000	0.08673	0.0:0.7008:0.1389:0.1602	7.214	0.25127	875	0.30485	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.008621	0.003049	0.007576	0.02632	1064.33	33	chr17	63545170	.	C	A	1064.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.312;DP=683;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.43;ReadPosRankSum=1.51;SOR=0.713	GT:AD:DP:GQ:PL	0/1:27,42:69:99:1078,0,673	18	0	1	0
chr17	69008142	69008142	T	A	exonic	ABCA9	.	nonsynonymous SNV	ABCA9:NM_080283:exon24:c.A3241T:p.I1081F	.	432	1087	3	0	0	3	0.00137804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.490	0.129866880474	0.0017	0.000199681	0.0015	0.0002	0.0041	0	0.0012	0.0018	0.0033	0	0.0013519	209	154602	rs138716502	0.0013	0.0013	0.0013	0.0013	0.0028	0.0013	0.0012	0.0024	0.0022	0.0004	0.0028	0	0	0.0007	0.0014	0.0015	0.0014	0.0001	0.0010	0.0010	0.0011	0.0010	0.0024	0.0009	0.0009	0.0017	0.0015	0.0003	0	0.0024	0	0	0.0012	0	0.0014	0.0014	0	0.063	0.36709	T	0.097	0.39190	T	0.022	0.18677	B	0.104	0.31021	B	0.000292	0.46274	D	0.000000	0.99428	0.43428	D	1.995	0.54099	M	-2.31	0.87750	D	-3.25	0.65283	D	0.383	0.42443	0.064	0.83508	D	0.577	0.84751	D	10	0.02066359	0.00480	T	0.129867	0.81196	D	0.490	0.77720	.	.	0.679174988471	0.67644	0.4908747754942679	0.49007	0.191758698941	0.21506	0.581291615963	0.50267	T	0.470496	0.80359	T	-0.255217	0.13465	T	-0.144926	0.59690	T	0.041541235756477	0.03971	T	0.561144	0.19645	T	0.20380782	0.42470	0.24177453	0.49583	0.20380782	0.42470	0.24177453	0.49582	-9.344	0.69883	D	.	.	0.140	0.30608	B	.;.	.;.	1.249019	0.16453	12.55	0.885856070434485	0.18093	0.85470	0.44605	D	AEFI	0.303499	0.41146	N	-0.190718413032921	0.33520	1.902619	-0.127543354433397	0.34283	1.97039	0.191962585463502	0.18011	0.615465	0.37627	0	0.588015	0.36545	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	4.8	4.8	0.61157	0.431000	0.21163	0.140000	0.15159	0.574000	0.29054	0.017000	0.19353	0.021000	0.20819	0.009000	0.08673	0.0:0.0:0.0:1.0	12.603	0.55862	981	0.03995	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.000000	0.000000	0.000000	0.000000	0.003049	0.011364	0.02632	1067.33	35	chr17	69008142	.	T	A	1067.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.163;DP=720;ExcessHet=0;FS=2.706;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.12;ReadPosRankSum=-1.36;SOR=0.427	GT:AD:DP:GQ:PL	0/1:49,47:96:99:1081,0,1405	18	0	1	0
chr17	69182788	69182788	C	G	exonic	ABCA10	.	nonsynonymous SNV	ABCA10:NM_001377321:exon21:c.G2518C:p.V840L,ABCA10:NM_080282:exon22:c.G2518C:p.V840L	.	522	993	7	0	0	7	0.00351229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.0128087649836	.	0.000599042	0.0004	0	0.0003	0	0	8.999e-05	0.0011	0.0024	0.0003493	54	154602	rs188482429	0.0002	0.0002	0.0002	0.0003	0.0031	0.0002	0.0002	0.0028	0.0026	0	0.0001	3.87e-05	0	0	0.0019	3.519e-05	0.0004	0.0031	0.0002	0.0002	0.0002	0.0003	0.0028	0.0002	0.0001	0.0016	0.0013	2.48e-05	0	0.0001	0	0	0	0.0070	0.0002	0	0.0028	0.196	0.20683	T	0.312	0.19599	T	0.021	0.18474	B	0.025	0.20508	B	0.240550	0.15721	U	0.361104	1	0.08975	N	0.93	0.23535	L	-2.1	0.86146	D	-0.76	0.21215	N	0.185	0.20129	-0.7632	0.57231	T	0.341	0.70721	T	10	0.006010562	0.00135	T	0.012809	0.31705	T	0.065	0.18881	0.33	0.31519	0.432826170204	0.42904	0.06498734317993511	0.06437	0.0298858011307	0.03076	0.537388443947	0.44077	T	0.002965	0.02360	T	-0.483698	0.00704	T	-0.473123	0.25181	T	0.0239772091158912	0.01142	T	0.526647	0.17353	T	0.044935532	0.07269	0.054076873	0.09233	0.044935532	0.07268	0.054076873	0.09232	-7.058	0.54456	T	.	.	0.116	0.23360	B	.	.	-0.871327	0.00975	0.039	0.82167825716523346	0.14053	0.01143	0.04142	N	AEFDBI	0.070794	0.14067	N	-1.4631355057845	0.02116	0.09308005	-1.56408023043661	0.01880	0.08573741	2.15342578378227E-5	0.03498	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.96	-4.18	0.03584	-2.622000	0.00950	-8.937000	0.00891	-1.092000	0.01532	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.0:0.2073:0.1454:0.6472	6.766	0.22751	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	0.001007	0.005051	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	422.33	34	chr17	69182788	.	C	G	422.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.127;DP=687;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.3;ReadPosRankSum=0.353;SOR=0.624	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:22,19:41:99:0|1:69182788_C_G:436,0,503:69182788	18	0	1	0
chr17	75502288	75502288	G	A	exonic	CASKIN2	.	nonsynonymous SNV	CASKIN2:NM_001142643:exon17:c.C2540T:p.T847M,CASKIN2:NM_020753:exon18:c.C2786T:p.T929M	.	398	1122	2	0	0	2	0.000890472	.	.	.	2686976	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.185	0.0568354240583	.	.	0.0002	0	0	0	0	0.0003	0	0.0004	4.53e-05	7	154602	rs775974159	4.418e-05	4.446e-05	3.034e-05	5.858e-05	0.0001	3.493e-05	3.143e-05	7.532e-05	5.72e-05	3.2e-05	9.453e-05	0	0	2.641e-05	0	3.663e-05	0.0001	0.0001	5.911e-05	5.906e-05	6.426e-05	5.373e-05	0.0006	3.076e-05	2.209e-05	0.0002	8.989e-05	0	0	0	0	0	0	0.0034	7.354e-05	0	0.0006	0.005	0.65419	D	0.087	0.41239	T	0.994	0.66517	D	0.729	0.55225	P	0.000200	0.48115	D	0.000000	0.514395	0.31845	D	0.975	0.24501	L	-0.52	0.70717	T	-1.41	0.34795	N	0.403	0.44379	-0.4811	0.69327	T	0.323	0.69168	T	10	0.26549584	0.44046	T	0.056835	0.66748	D	0.185	0.45933	.	.	0.537366646314	0.53388	0.0957892500716025	0.09510	0.607307371854	0.55543	0.813550710678	0.84037	D	0.031533	0.22084	T	-0.128732	0.31700	T	-0.207356	0.53948	T	0.384815901517868	0.28367	T	0.822818	0.49094	T	0.06061036	0.12459	0.08561528	0.19779	0.06061036	0.12458	0.08561528	0.19779	-6.805	0.52596	T	.	.	0.122	0.44948	B	.;.	.;.	4.096542	0.61046	24.3	0.99669431565172706	0.78458	0.92317	0.55433	D	AEFDBCI	0.574608	0.57733	D	0.418423424448962	0.62436	4.459384	0.40078797092719	0.61614	4.36398	0.96978361717944	0.29156	0.646311	0.45356	0	0.626922	0.53725	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	5.0	5.0	0.66209	5.517000	0.66777	9.613000	0.81090	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.041000	0.14368	0.0795:0.0:0.9205:0.0	11.897	0.51942	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1092.33	39	chr17	75502288	.	G	A	1092.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.13;DP=940;ExcessHet=0;FS=1.876;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.19;ReadPosRankSum=-1.141;SOR=0.471	GT:AD:DP:GQ:PL	0/1:38,39:77:99:1106,0,973	18	0	1	0
chr17	75828796	75828796	C	T	exonic	UNC13D	.	nonsynonymous SNV	UNC13D:NM_199242:exon31:c.G3142A:p.A1048T	Hemophagocytic lymphohistiocytosis, familial, 3	2	1516	4	0	0	4	0.00131752	.	.	.	531897	Inborn_genetic_diseases|Familial_hemophagocytic_lymphohistiocytosis_3	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0012146,MedGen:C1837174,OMIM:608898,Orphanet:540	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.081	0.0277504685914	.	.	0.0002	0	0	0.0020	0	0	0	0.0003	1.94e-05	3	154602	rs758781229	4.668e-05	6.362e-05	3.541e-05	5.827e-05	0.0007	3.753e-05	3.419e-05	0.0002	9.51e-05	0	2.791e-05	0	2.773e-05	0	0.0007	3.431e-05	0.0002	0.0002	3.282e-05	3.281e-05	6.423e-05	0	5.88e-05	1.26e-05	7.97e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0.0034	5.88e-05	0	0	0.056	0.40319	T	0.172	0.30241	T	0.414	0.35185	B	0.026	0.20792	B	0.190540	0.16859	N	0.601504	1	0.08975	N	1.735	0.44892	L	-0.36	0.69027	T	-0.56	0.17003	N	0.138	0.14054	-1.0055	0.28307	T	0.132	0.44386	T	10	0.02714479	0.00866	T	0.02775	0.50522	D	0.081	0.23632	0.18	0.08751	0.451118754121	0.44735	0.415447528461492	0.41460	0.0938026689721	0.10595	0.332325816154	0.15286	T	0.076403	0.35409	T	-0.221117	0.17842	T	-0.555396	0.16812	T	0.0709956644946415	0.08789	T	0.585041	0.21304	T	0.04067574	0.05850	0.063032225	0.12424	0.04067574	0.05850	0.063032225	0.12423	-3.383	0.16125	T	0.0942750276413584	0.06291	0.075	0.08368	B	.;.	.;.	1.761488	0.22403	15.61	0.9873053746483802	0.45348	0.01162	0.04188	N	AEFDGBHI	0.047312	0.07954	N	-0.957916849672042	0.09515	0.4507193	-0.968812711271269	0.10490	0.5286572	0.992534279552083	0.32874	0.646311	0.45356	0	0.577304	0.33150	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	5.65	-1.26	0.08892	0.538000	0.22869	-1.368000	0.05605	-0.319000	0.05888	0.003000	0.16062	0.000000	0.08366	0.951000	0.49849	0.0:0.4009:0.0:0.5991	11.174	0.47815	945	0.12563	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005160	0.005376	0.004144	0.009091	0.050000	0.008621	0.006289	0.007692	0.02632	794.33	34	chr17	75828796	.	C	T	794.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.586;DP=696;ExcessHet=0;FS=2.12;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.24;ReadPosRankSum=-0.743;SOR=0.577	GT:AD:DP:GQ:PL	0/1:27,33:60:99:808,0,742	18	0	1	0
chr17	78425545	78425545	A	C	exonic	DNAH17	.	nonsynonymous SNV	DNAH17:NM_173628:exon80:c.T12942G:p.F4314L	.	412	1084	25	1	0	27	0.0123007	.	.	.	2743798	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.175	.	0.0038	0.00299521	0.0044	0.0012	0.0062	0	0.0007	0.0058	0.0024	0.0038	0.003771	583	154602	rs142772880	0.0053	0.0053	0.0052	0.0053	0.0242	0.0052	0.0051	0.0209	0.0197	0.0014	0.0055	0.0134	2.52e-05	0.0004	0.0242	0.0056	0.0065	0.0029	0.0037	0.0037	0.0041	0.0034	0.0068	0.0035	0.0034	0.0057	0.0053	0.0013	0	0.0068	0.0110	0	9.411e-05	0.0306	0.0049	0.0066	0.0027	.	.	.	.	.	.	.	.	.	.	.	.	0.000020	0.62929	D	0.000000	0.916	0.27404	N	.	.	.	3.16	0.07711	T	.	.	.	0.57	0.59308	-0.9675	0.37713	T	0.006	0.01981	T	10	0.00745973	0.00169	T	.	.	.	0.175	0.44197	.	.	0.0297737177859	0.01360	0.5449803849516415	0.54424	.	.	0.748355150223	0.74204	T	.	.	.	-0.521545	0.00431	T	-0.520711	0.20221	T	0.0173064823741163	0.00470	T	0.785321	0.42297	T	0.11460729	0.27055	0.16420396	0.38051	0.07551805	0.17020	0.18249997	0.41180	-3.741	0.19925	T	.	.	0.877	0.81307	P	.;.	.;.	1.777454	0.22601	15.69	0.9392157783064361	0.23963	0.19837	0.20814	N	AEFDBHI	0.316403	0.42070	N	-1.08477754553124	0.06923	0.3200948	-1.04085411498331	0.08899	0.4398413	0.991231989670277	0.32418	0.67177	0.52595	0	0.702456	0.74545	0	0.473483	0.07196	2	0.711	0.71501	0	.	.	4.75	-3.72	0.04125	-0.235000	0.09031	-6.528000	0.01374	-0.122000	0.13826	0.001000	0.13787	0.000000	0.08366	0.989000	0.64315	0.703:0.0:0.1687:0.1283	8.278	0.31045	917	0.20147	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	0.021695	0.020202	0.021739	0.035088	0.000000	0.025862	0.021605	0.000000	0.02632	1313.33	41	chr17	78425545	.	A	C	1313.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.135;DP=811;ExcessHet=0;FS=4.255;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.27;ReadPosRankSum=-0.992;SOR=0.363	GT:AD:DP:GQ:PL	0/1:60,47:107:99:1327,0,1983	18	0	1	0
chr17	80346419	80346419	C	T	exonic	RNF213	.	nonsynonymous SNV	RNF213:NM_001256071:exon29:c.C8084T:p.A2695V	.	0	1500	22	0	0	22	0.00727995	.	.	.	2818055	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.325	0.018439059751	0.0004	0.000199681	0.0006	0	0.0003	0	0	0.0009	0.0022	0.0002	0.0005369	83	154602	rs202096577	0.0004	0.0004	0.0004	0.0004	0.0017	0.0004	0.0004	0.0009	0.0007	2.987e-05	0.0006	0.0018	0	0	0.0017	0.0004	0.0009	0.0005	0.0005	0.0005	0.0005	0.0004	0.0013	0.0004	0.0003	0.0009	0.0007	9.635e-05	0	0.0013	0.0020	0	0	0.0034	0.0005	0.0005	0.0002	0.009	0.57480	D	0.004	0.74150	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999915	0.51042	D	.	.	.	1.87	0.24085	T	-3.46	0.67705	D	0.617	0.63289	-1.0265	0.21593	T	0.106	0.38636	T	10	0.080498874	0.13072	T	0.018439	0.40505	T	0.325	0.64725	.	.	0.405012372841	0.40113	.	.	1.07567632848	0.76952	0.466452360153	0.34194	T	0.103252	0.41173	T	-0.0278958	0.47723	T	0.107892	0.77432	D	0.187317276909537	0.19685	T	0.89841	0.64469	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.255	0.49018	B	.;.	.;.	3.495832	0.48888	22.7	0.99164711999056254	0.54212	0.99294	0.94081	D	AEFGBI	0.874600	0.79756	D	0.368594165393782	0.59728	4.154666	0.449080731419812	0.64656	4.726046	0.999999998475146	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.37	5.37	0.76949	7.797000	0.84471	7.632000	0.62779	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.871000	0.41478	0.0:1.0:0.0:0.0	19.110	0.93298	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	0	0	1	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.017241	0.003049	0.000000	0.02632	1890.33	38	chr17	80346419	.	C	T	1890.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.14;DP=864;ExcessHet=0;FS=4.687;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.81;ReadPosRankSum=-0.658;SOR=0.687	GT:AD:DP:GQ:PL	0/1:89,71:160:99:1904,0,2449	18	0	1	0
chr17	81442340	81442340	G	A	exonic	BAHCC1	.	nonsynonymous SNV	BAHCC1:NM_001291324:exon5:c.G991A:p.G331R,BAHCC1:NM_001377448:exon5:c.G991A:p.G331R	.	396	1103	21	2	0	25	0.0112057	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	.	0.0035	0.00419329	0.0177	0.0083	0.0312	0	0	0.0201	0	0.0182	0.0033635	520	154602	rs200635626	0.0073	0.0068	0.0068	0.0076	0.0121	0.0071	0.0070	0.0114	0.0111	0.0012	0.0051	0.0033	3.16e-05	0.0011	0.0055	0.0087	0.0059	0.0121	0.0054	0.0054	0.0058	0.0049	0.0120	0.0051	0.0050	0.0095	0.0087	0.0015	0.0033	0.0054	0.0043	0.0002	0.0011	0	0.0084	0.0090	0.0120	0.011	0.55530	D	0.283	0.21478	T	0.804	0.45171	P	0.084	0.29270	B	.	.	.	.	0.999999	0.08975	N	2.3	0.65703	M	2.79	0.11189	T	-2.2	0.49519	N	0.455	0.56058	-1.0086	0.27354	T	0.016	0.06473	T	9	0.006036341	0.00136	T	.	.	.	0.048	0.13305	0.12	0.02719	0.0806252709748	0.07271	0.12245195582152993	0.12172	0.502331297958	0.48594	0.842930495739	0.88540	D	0.230255	0.59628	T	-0.491739	0.00636	T	-0.468737	0.25653	T	0.0146539307956324	0.00303	T	0.80392	0.45897	T	0.07046136	0.15523	0.14767307	0.34938	0.07046136	0.15523	0.14767307	0.34937	-3.643	0.18481	T	.	.	0.327	0.55011	B	.;.	.;.	4.551593	0.71641	25.7	0.99801142503588558	0.88550	0.06367	0.12368	N	AEFBI	0.063739	0.12337	N	-0.398987019648809	0.25505	1.385015	-0.436542158329562	0.23934	1.30782	0.0064609846732517	0.11222	0.517182	0.21443	0	0.547309	0.14657	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	4.23	1.86	0.24489	1.691000	0.37340	8.301000	0.76932	0.585000	0.30472	0.756000	0.29198	1.000000	0.68203	0.489000	0.28769	0.1289:0.4504:0.4206:0.0	5.753	0.17426	.	.	.;.	RP13-516M14.10	Cells_Cultured_fibroblasts	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07895	2290.79	70	chr17	81442340	.	G	A	2290.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=2.44;DP=949;ExcessHet=0.3672;FS=0.559;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=12.87;ReadPosRankSum=-0.412;SOR=0.784	GT:AD:DP:GQ:PL	0/1:44,17:61:99:324,0,1157	16	0	3	0
chr17	82051640	82051657	GGGCCGGGGCGGGGGTCC	-	exonic	RFNG	.	nonframeshift deletion	RFNG:NM_002917:exon1:c.110_127del:p.R37_A42del	.	584	926	6	2	4	14	0.00537057	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	.	.	.	0	.	.	0	3.84e-05	1	26028	rs774584429	0.0008	0.0006	0.0008	0.0008	0.0168	0.0007	0.0007	0.0153	0.0147	0.0003	0.0002	0.0018	0.0001	0.0009	0.0009	0.0004	0.0017	0.0168	0.0012	0.0012	0.0009	0.0015	0.0181	0.0011	0.0010	0.0150	0.0139	0.0002	0	0.0002	0.0044	0	0.0005	0	0.0008	0.0019	0.0181	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	303.54	9	chr17	82051639	.	GGGGCCGGGGCGGGGGTCC	G	303.54	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.765;DP=250;ExcessHet=0;FS=0;InbreedingCoeff=-0.0421;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=30.35;ReadPosRankSum=0;SOR=1.179	GT:AD:DP:GQ:PL	0/1:2,8:10:59:317,0,59	18	0	1	0
chr17	82832160	82832160	C	T	exonic	ZNF750	.	nonsynonymous SNV	ZNF750:NM_024702:exon2:c.G295A:p.D99N	Seborrhea-like dermatitis with psoriasiform elements	0	1508	13	1	0	15	0.00494886	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.127	0.012004153676	0.0002	0.000599042	0.0006	0	0.0003	0	0.0002	0.0004	0	0.0025	0.0005304	82	154602	rs145679392	0.0003	0.0003	0.0002	0.0004	0.0021	0.0003	0.0003	0.0018	0.0017	2.987e-05	0.0003	0.0017	2.519e-05	1.872e-05	0.0019	0.0001	0.0006	0.0021	0.0002	0.0002	0.0002	0.0003	0.0017	0.0002	0.0002	0.0008	0.0006	4.813e-05	0	0.0002	0.0017	0	0	0	0.0003	0.0005	0.0017	0.016	0.51853	D	0.024	0.56640	D	0.391	0.34615	B	0.11	0.31460	B	0.000035	0.55875	D	0.073990	0.999765	0.48888	D	2.25	0.63811	M	1.57	0.29342	T	-2.0	0.46146	N	0.079	0.05414	-1.0742	0.08514	T	0.082	0.32207	T	9	0.008555442	0.00194	T	0.012004	0.30173	T	0.127	0.34888	.	.	0.161926535498	0.15789	0.14063396279171148	0.13986	0.206957076535	0.23130	0.320667743683	0.13523	T	0.035727	0.23831	T	-0.643884	0.00079	T	-0.704147	0.05602	T	0.0493117494132974	0.05379	T	0.723828	0.33737	T	0.088392	0.20617	0.08424884	0.19367	0.088392	0.20617	0.08424884	0.19367	-4.203	0.26795	T	.	.	0.097	0.15609	B	.	.	2.637992	0.34320	19.59	0.9980231792897335	0.88728	0.72798	0.35621	D	AEFDBI	.	.	.	-0.223384111186913	0.32175	1.811803	-0.22497840748812	0.30643	1.727165	0.986496198922188	0.31074	0.580535	0.33130	0	0.546412	0.12157	0	0.576033	0.28219	0	0.528226	0.09195	0	.	.	5.86	4.9	0.63643	2.498000	0.45023	2.688000	0.34067	-0.190000	0.09434	0.981000	0.35396	0.993000	0.31925	0.001000	0.02609	0.0:0.9277:0.0:0.0723	14.055	0.64287	.	.	.	.	.	.	.	.	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	0.002014	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.003788	0.02632	2762.33	41	chr17	82832160	.	C	T	2762.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.96;DP=954;ExcessHet=0;FS=4.07;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.17;ReadPosRankSum=0.091;SOR=0.974	GT:AD:DP:GQ:PL	0/1:93,102:195:99:2776,0,2279	18	0	1	0
chr18	2796442	2796442	C	T	exonic	SMCHD1	.	nonsynonymous SNV	SMCHD1:NM_015295:exon47:c.C5914T:p.R1972C	Bosma arhinia microphthalmia syndrome, Autosomal dominant;Fascioscapulohumeral muscular dystrophy 2, digenic	436	1085	1	0	0	1	0.000460617	.	.	.	586223	Facioscapulohumeral_muscular_dystrophy_2|not_provided	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901,Orphanet:269|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.051	0.0117499987485	.	.	0.0001	0	0.0016	0	0	0	0	0.0001	5.82e-05	9	154602	rs778853203	4.757e-05	5.405e-05	4.931e-05	4.58e-05	0.0005	3.823e-05	3.503e-05	0.0003	0.0003	3.008e-05	0.0005	0	5.061e-05	3.776e-05	0	1.627e-05	6.662e-05	0.0002	6.572e-06	6.567e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.186	0.21467	T	0.131	0.34596	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.55	0.14455	N	1.9	0.23486	T	-1.7	0.40468	N	0.097	0.07811	-1.0211	0.23357	T	0.023	0.09832	T	9	0.016839355	0.00356	T	0.01175	0.29684	T	0.051	0.14325	0.213	0.13210	0.0675242888579	0.06100	0.17004852058740733	0.16924	0.288162063312	0.31226	0.32230848074	0.13770	T	0.147012	0.48490	T	-0.41677	0.01794	T	-0.471139	0.25392	T	0.0742215646354169	0.09232	T	0.759724	0.38410	T	0.056763623	0.11210	0.047936164	0.07013	0.056763623	0.11210	0.047936164	0.07012	-3.875	0.21928	T	.	.	0.079	0.07130	B	.	.	3.332365	0.45876	22.2	0.90920502253811841	0.20169	0.41248	0.26615	N	AEFDGBHCI	0.123360	0.23893	N	-0.64782484784148	0.17523	0.9024611	-0.500906265009092	0.22130	1.200435	0.929237252053864	0.26960	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.11	3.26	0.36471	1.715000	0.37591	2.648000	0.33797	0.580000	0.29708	0.980000	0.35271	0.999000	0.35428	0.953000	0.50222	0.161:0.5968:0.1559:0.0863	4.360	0.10633	568	0.70638	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1199.33	33	chr18	2796442	.	C	T	1199.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.503;DP=721;ExcessHet=0;FS=2.744;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.18;ReadPosRankSum=1.9;SOR=1.022	GT:AD:DP:GQ:PL	0/1:44,47:91:99:1213,0,1113	18	0	1	0
chr18	9570163	9570163	C	T	exonic	PPP4R1	.	nonsynonymous SNV	PPP4R1:NM_001382562:exon10:c.G1300A:p.V434I,PPP4R1:NM_001042388:exon11:c.G1567A:p.V523I,PPP4R1:NM_005134:exon11:c.G1516A:p.V506I	.	433	1085	4	0	0	4	0.00183993	.	.	.	2352101	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.103	0.012943829975	0.0010	0.000199681	0.0007	0.0005	0.0003	0	0.0002	0.0010	0.0013	0.0005	0.0007244	112	154602	rs199807748	0.0013	0.0013	0.0014	0.0012	0.0016	0.0013	0.0012	0.0015	0.0015	0.0004	0.0005	0	2.622e-05	1.991e-05	0.0011	0.0016	0.0012	0.0004	0.0008	0.0008	0.0008	0.0009	0.0014	0.0007	0.0007	0.0011	0.0011	0.0004	0	0.0007	0	0	0.0002	0	0.0014	0.0009	0.0002	0.124	0.27426	T	0.158	0.31833	T	0.942	0.56202	P	0.463	0.52930	P	0.001561	0.38671	N	0.179845	0.998965	0.45775	D	2.4	0.69460	M	2.22	0.18248	T	-0.51	0.15986	N	0.489	0.52297	-1.0402	0.17253	T	0.099	0.36830	T	9	0.05205235	0.05179	T	0.012944	0.31944	T	0.103	0.29403	.	.	0.29966067498	0.29572	0.26850734077385996	0.26763	0.694655474682	0.60776	0.590433239937	0.51555	T	0.009366	0.08534	T	-0.43173	0.01447	T	-0.40019	0.33362	T	0.0472367207268136	0.05007	T	0.868113	0.56980	D	0.0589351	0.11918	0.07044444	0.14969	0.0589351	0.11917	0.07044444	0.14969	-8.82	0.66531	D	.	.	0.085	0.33687	B	.;.	.;.	4.586025	0.72498	25.8	0.9983274852128341	0.91456	0.98609	0.84658	D	AEFBI	0.603347	0.59486	D	0.645679883486785	0.76088	6.42267	0.662417558918015	0.79539	7.103726	0.999999999934371	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.43	5.43	0.79006	5.756000	0.68414	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	19.597	0.95541	597	0.68309	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.02632	1265.33	34	chr18	9570163	.	C	T	1265.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.55;DP=720;ExcessHet=0;FS=2.839;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.28;ReadPosRankSum=1.13;SOR=1.093	GT:AD:DP:GQ:PL	0/1:58,45:103:99:1279,0,1519	18	0	1	0
chr18	9887397	9887397	C	0	exonic	TXNDC2	.	.	.	.	477	317	422	139	167	867	0.524738	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4211	121308.0	599	chr18	9887397	.	C	*	121308.0	.	AC=16;AF=0.421;AN=38;BaseQRankSum=2.27;DP=10943;ExcessHet=0.0506;FS=0;InbreedingCoeff=0.3091;MLEAC=16;MLEAF=0.421;MQ=59.34;MQRankSum=1.04;QD=14.78;ReadPosRankSum=0.235;SOR=0.697	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:9,299:308:99:1|1:9887391_GGAAGCCATCCAGCCCAAGGAGGGTGACATCCCCAAGTCCCCAGAA_G:12896,729,0:9887391	6	3	10	0
chr18	23136103	23136103	C	T	exonic	CABLES1	.	nonsynonymous SNV	CABLES1:NM_001100619:exon1:c.C341T:p.A114V	.	429	1091	2	0	0	2	0.000915751	.	.	.	3640735	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.052	0.0711695701972	.	.	.	.	.	.	.	.	.	.	.	.	.	rs28477404	2.124e-05	4.31e-05	2.564e-05	1.634e-05	0.0007	1.391e-05	1.187e-05	0.0004	0.0003	0	0	0	4.543e-05	0	0	6.728e-06	2.502e-05	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.164	0.31026	T	0.753	0.43334	P	0.337	0.42281	B	0.471210	0.04927	U	2.609870	1	0.81001	D	0.55	0.14455	N	0.74	0.50459	T	-0.89	0.24026	N	0.087	0.06454	-0.9699	0.37220	T	0.107	0.38857	T	10	0.15245202	0.28795	T	0.07117	0.71199	D	0.052	0.14661	0.316	0.29258	0.407632638399	0.40377	0.252068650369492	0.25120	1.12339837469	0.78355	0.887925505638	0.95000	D	0.055501	0.30025	T	-0.172554	0.24851	T	-0.485638	0.23849	T	0.439752805859184	0.30420	T	0.49875	0.15541	T	0.20606592	0.42769	0.2119076	0.45638	0.20606592	0.42769	0.2119076	0.45637	-4.938	0.36159	T	.	.	0.192	0.41094	B	.	.	2.991926	0.39950	21.1	0.99858348845902323	0.93729	0.16705	0.19511	N	AEFDBHCIJ	0.153388	0.27824	N	-0.439078363579687	0.24112	1.299641	-0.520635742155076	0.21593	1.168851	0.999999997947367	0.74766	0.65757	0.49021	0	0.484254	0.07192	0	0.619478	0.44681	0	0.621717	0.48901	0	.	.	1.6	1.6	0.22686	3.078000	0.49794	3.126000	0.36421	0.436000	0.21017	0.620000	0.27914	0.969000	0.29651	0.621000	0.31922	0.0:1.0:0.0:0.0	8.400	0.31742	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	.	.	.	.	.	.	.	.	0.02632	565.33	29	chr18	23136103	.	C	T	565.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.252;DP=545;ExcessHet=0;FS=2.587;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.46;ReadPosRankSum=1.41;SOR=0.392	GT:AD:DP:GQ:PL	0/1:20,22:42:99:579,0,500	18	0	1	0
chr18	25227295	25227295	C	T	exonic	ZNF521	.	nonsynonymous SNV	ZNF521:NM_015461:exon4:c.G623A:p.R208H	.	434	1085	3	0	0	3	0.00138058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.313	0.011816891317	.	.	3.298e-05	0	8.646e-05	0	0	4.497e-05	0	0	3.23e-05	5	154602	rs766248011	1.094e-05	1.163e-05	1.225e-05	9.626e-06	0.0002	6.48e-06	5.24e-06	7.41e-06	3.32e-06	0	4.472e-05	0	0	0	0.0002	8.993e-06	3.311e-05	1.159e-05	1.315e-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	0.021	0.49117	D	0.183	0.29153	T	0.999	0.77913	D	0.946	0.68276	D	0.000000	0.84330	D	0.000000	0.839201	0.81001	D	0.125	0.08623	N	2.47	0.14783	T	-1.25	0.31576	N	0.737	0.73735	-1.0396	0.17434	T	0.061	0.25563	T	10	0.34958017	0.51848	T	0.011817	0.29821	T	0.313	0.63482	0.528	0.63412	0.082315109003	0.07666	0.4903302550205542	0.48953	1.21362852847	0.80899	0.841413497925	0.88309	D	0.143521	0.47967	T	-0.109112	0.34916	T	-0.218662	0.52866	T	0.347240244509848	0.26910	T	0.960604	0.85218	D	0.17582998	0.38463	0.09649519	0.22929	0.17582998	0.38463	0.09649519	0.22928	-5.981	0.46121	T	.	.	0.357	0.60318	A	.;.;.	.;.;.	4.535278	0.71241	25.6	0.98017529606722564	0.37605	0.94927	0.62815	D	AEFDGBI	0.804240	0.72916	D	0.638489552122795	0.75626	6.339296	0.706774271325248	0.82893	7.881352	0.999999999992917	0.74766	0.722319	0.85440	0	0.59043	0.45803	0	0.608884	0.39905	0	0.735409	0.98432	0	.	.	5.98	5.98	0.97147	5.818000	0.68915	4.958000	0.46324	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.9294:0.0:0.0706	13.620	0.61604	896	0.25515	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	.	.	.	.	.	.	.	.	0.02632	2515.33	39	chr18	25227295	.	C	T	2515.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.212;DP=946;ExcessHet=0;FS=0.508;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.15;ReadPosRankSum=-1.314;SOR=0.755	GT:AD:DP:GQ:PL	0/1:106,101:207:99:2529,0,2651	18	0	1	0
chr18	31541297	31541297	G	A	exonic	DSG2	.	nonsynonymous SNV	DSG2:NM_001943:exon13:c.G1984A:p.A662T	Arrhythmogenic right ventricular dysplasia 10, Autosomal dominant;Cardiomyopathy, dilated, 1BB	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.426	0.0891150511824	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1186896680	1.368e-06	1.368e-06	2.723e-06	0	2.236e-05	2.3e-07	9e-08	.	.	0	2.236e-05	0	0	0	0	8.995e-07	0	0	6.575e-06	6.568e-06	1.285e-05	0	6.549e-05	0	0	.	.	0	0	6.549e-05	0	0	0	0	0	0	0	0.0	0.91255	D	0.021	0.58089	D	1.0	0.90584	D	0.999	0.92359	D	0.000006	0.62929	D	0.000000	0.999817	0.49394	D	3.05	0.86762	M	-0.92	0.75108	T	-3.52	0.68412	D	0.56	0.58458	0.372	0.88677	D	0.658	0.88122	D	10	0.69900656	0.72324	D	0.089115	0.75265	D	0.426	0.73372	0.21	0.12781	0.956247277456	0.95578	0.9288824395156199	0.92866	0.414509619234	0.42131	0.434575915337	0.29834	T	0.621993	0.88164	D	0.0720377	0.61095	D	-0.051434	0.66924	D	0.993339002132416	0.84094	D	0.858914	0.54988	D	0.6406292	0.74865	0.679	0.81137	0.6406292	0.74866	0.679	0.81138	-8.715	0.65844	D	0.8609242873125713	0.92441	0.562	0.67302	A	.	.	4.707566	0.75589	26.4	0.99913393119932348	0.98238	0.99258	0.93561	D	AEFBI	0.734853	0.68086	D	0.925276561188041	0.92941	11.723	0.887186071652214	0.94988	13.21417	0.999999990424555	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.86	5.86	0.93936	6.638000	0.74166	11.800000	0.96626	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:1.0:0.0	20.563	0.99337	702	0.57624	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4444	3348.45	99	chr18	31541297	.	G	A	3348.45	.	AC=16;AF=0.444;AN=36;BaseQRankSum=-0.192;DP=1152;ExcessHet=25.4433;FS=375.107;InbreedingCoeff=-0.7874;MLEAC=17;MLEAF=0.472;MQ=60;MQRankSum=0;QD=3.6;ReadPosRankSum=1.09;SOR=12.356	GT:AD:DP:GQ:PL	0/1:28,27:55:99:234,0,380	2	0	16	1
chr18	32217080	32217080	G	A	exonic	MEP1B	.	nonsynonymous SNV	MEP1B:NM_001308171:exon13:c.G1849A:p.G617S,MEP1B:NM_005925:exon13:c.G1849A:p.G617S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.750	0.312835784679	0.0004	0.000399361	0.0002	0	0	0	0.0002	0.0002	0	0.0010	0.0002199	34	154602	rs191558431	0.0002	0.0002	0.0002	0.0002	0.0014	0.0002	0.0002	0.0012	0.0011	2.987e-05	0.0001	0	0	0	0.0003	0.0001	9.938e-05	0.0014	9.856e-05	9.845e-05	0.0001	8.065e-05	0.0002	6.006e-05	4.88e-05	0.0001	0.0001	0	0	0	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	0.000001	0.84330	D	0.095842	1	0.81001	D	3.61	0.93830	H	-4.14	0.96772	D	-4.36	0.76980	D	0.875	0.90025	1.075	0.98716	D	0.955	0.98531	D	10	0.7503739	0.75592	D	0.312836	0.91238	D	0.750	0.91413	.	.	0.963969903436	0.96358	0.9538641150886112	0.95370	0.532633583879	0.50717	0.554287433624	0.46462	T	0.64496	0.89156	D	0.213098	0.75123	D	0.482884	0.94269	D	0.753024518489838	0.43454	D	0.832317	0.50011	T	0.79264605	0.83439	0.7133911	0.83088	0.79264605	0.83440	0.7133911	0.83089	-12.141	0.85531	D	.	.	0.284	0.54056	B	.;.	.;.	4.928929	0.81244	27.5	0.99784511821863653	0.87131	0.99505	0.96840	D	AEFBI	0.935166	0.92962	D	0.817529109677854	0.87189	9.132944	0.704149715627983	0.82694	7.830889	0.999999990101888	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	6.08	6.08	0.98982	8.929000	0.92399	11.792000	0.96402	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.449000	0.27873	0.0:0.0:1.0:0.0	20.665	0.99682	841	0.37094	EGF-like domain;EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003067	0.000000	0.02632	1659.33	33	chr18	32217080	.	G	A	1659.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.06;DP=823;ExcessHet=0;FS=1.239;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.18;ReadPosRankSum=-0.66;SOR=0.56	GT:AD:DP:GQ:PL	0/1:92,71:163:99:1673,0,2021	18	0	1	0
chr18	37067196	37067196	T	C	exonic	KIAA1328	.	nonsynonymous SNV	KIAA1328:NM_001322327:exon6:c.T559C:p.C187R,KIAA1328:NM_001353919:exon6:c.T559C:p.C187R,KIAA1328:NM_001353918:exon7:c.T871C:p.C291R,KIAA1328:NM_020776:exon7:c.T883C:p.C295R,KIAA1328:NM_001353920:exon8:c.T31C:p.C11R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.0248307524252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	1.362e-06	1.376e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.21467	T	0.317	0.70582	T	0.002	0.54977	B	0.003	0.49647	B	0.066107	0.21833	N	0.492799	0.999991	0.18198	N	1.895	0.50365	L	0.96	0.42888	T	-2.89	0.60665	D	0.217	0.34228	-1.0429	0.16443	T	0.086	0.33550	T	10	0.095427215	0.17043	T	0.024831	0.47815	T	0.028	0.06331	0.277	0.23004	0.151104730317	0.14643	0.12560051005708286	0.12486	0.260958981567	0.28653	0.343422293663	0.16949	T	0.074489	0.34951	T	-0.234135	0.16106	T	-0.574095	0.15076	T	0.15222541987896	0.17279	T	0.674733	0.29555	T	0.25123864	0.48131	0.18567732	0.41694	0.25123864	0.48131	0.18567732	0.41693	-2.248	0.04280	T	.	.	0.146	0.40392	B	.;.;.;.;.	.;.;.;.;.	1.448914	0.18694	13.88	0.56740053966158088	0.05617	0.66923	0.33248	D	AEFGI	0.168829	0.29561	N	-0.727595758614455	0.15249	0.7668366	-0.728904545204197	0.16243	0.8583232	4.57563750617174E-5	0.03989	0.638212	0.43195	0	0.588015	0.36545	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	6.17	0.957	0.18736	1.298000	0.33017	0.476000	0.18759	-0.169000	0.11342	0.930000	0.32276	0.856000	0.27440	0.032000	0.13371	0.1242:0.1328:0.13:0.613	2.399	0.04129	738	0.53389	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1579	827.4	33	chr18	37067196	.	T	C	827.4	.	AC=6;AF=0.158;AN=38;BaseQRankSum=-6.782;DP=2841;ExcessHet=2.0135;FS=140.873;InbreedingCoeff=-0.1875;MLEAC=6;MLEAF=0.158;MQ=60;MQRankSum=0;QD=0.54;ReadPosRankSum=2.07;SOR=12.018	GT:AD:DP:GQ:PL	0/1:200,58:258:99:190,0,4604	13	0	6	0
chr18	46533320	46533320	G	A	exonic	LOXHD1	.	nonsynonymous SNV	LOXHD1:NM_001308013:exon8:c.C596T:p.A199V,LOXHD1:NM_001145472:exon10:c.C884T:p.A295V,LOXHD1:NM_001384474:exon28:c.C4217T:p.A1406V,LOXHD1:NM_144612:exon28:c.C4217T:p.A1406V	Deafness, autosomal recessive 77, Autosomal recessive	0	1467	52	3	0	58	0.019385	.	.	.	176700	Autosomal_recessive_nonsyndromic_hearing_loss_77|not_specified|not_provided	MONDO:MONDO:0013119,MedGen:C2746083,OMIM:613079,Orphanet:90636|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.216	.	0.0015	0.00638978	0.0079	0	0.01	0.0015	0	0.0026	0.0081	0.0187	0.0016817	260	154602	rs146739496	0.0025	0.0024	0.0021	0.0030	0.0158	0.0025	0.0024	0.0151	0.0148	0.0006	0.0021	0.0008	2.798e-05	0.0001	0.0135	0.0018	0.0034	0.0158	0.0020	0.0020	0.0019	0.0020	0.0164	0.0018	0.0017	0.0135	0.0124	0.0003	0.0011	0.0025	0.0009	0.0004	9.413e-05	0.0136	0.0023	0.0028	0.0164	0.029	0.45756	D	0.034	0.83351	D	0.905	0.49920	P	0.475	0.46927	P	0.021595	0.26803	N	0.419031	0.98616	0.40390	D	.	.	.	-0.1	0.64264	T	-1.98	0.45769	N	0.053	0.12770	-0.7687	0.56929	T	0.128	0.43503	T	10	0.0068620443	0.00156	T	.	.	.	0.216	0.50959	.	.	0.208000267992	0.20380	0.46809233412506684	0.46728	.	.	0.294937849045	0.09649	T	0.020119	0.80719	T	-0.525645	0.00407	T	-0.514204	0.20885	T	0.0791777662224257	0.09881	T	0.891911	0.66064	D	0.110194	0.26050	0.24893135	0.50454	0.1610283	0.36083	0.20420283	0.44533	-7.861	0.60119	D	.	.	0.162	0.38569	B	.;.;.;.;.;.	.;.;.;.;.;.	4.329512	0.66332	24.9	0.98795692942184155	0.46365	0.98819	0.87269	D	AEFBI	0.920127	0.89165	D	0.224203404375447	0.52375	3.41199	0.406273072246657	0.61956	4.403134	0.99999999711226	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.48	5.48	0.80675	9.567000	0.97303	11.766000	0.95743	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.664000	0.33081	0.0:0.0:1.0:0.0	19.339	0.94320	946	0.12043	PLAT/LH2 domain|PLAT/LH2 domain;.;PLAT/LH2 domain|PLAT/LH2 domain;PLAT/LH2 domain|PLAT/LH2 domain;PLAT/LH2 domain|PLAT/LH2 domain;PLAT/LH2 domain|PLAT/LH2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011933	0.005208	0.016393	0.008929	0.000000	0.058824	0.005747	0.011628	0.05263	2417.83	34	chr18	46533320	.	G	A	2417.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.108;DP=765;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.28;ReadPosRankSum=0.876;SOR=0.672	GT:AD:DP:GQ:PL	0/1:41,46:87:99:1136,0,1133	17	0	2	0
chr18	49581514	49581514	C	T	exonic	LIPG	.	nonsynonymous SNV	LIPG:NM_001308006:exon5:c.C671T:p.T224I,LIPG:NM_006033:exon6:c.C893T:p.T298I	.	420	1095	5	0	2	7	0.0022779	.	.	.	2778281	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.597	0.368870238787	.	.	8.237e-05	9.61e-05	0	0	0	2.997e-05	0	0.0004	6.47e-05	10	154602	rs61729805	6.225e-05	6.225e-05	3.539e-05	8.938e-05	0.0009	5.161e-05	4.78e-05	0.0007	0.0006	0	0	3.826e-05	0	0	0.0009	7.194e-06	6.623e-05	0.0008	2.626e-05	2.625e-05	0	5.371e-05	0.0006	8.14e-06	5.14e-06	0.0002	8.996e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0006	0.01	0.58626	D	0.084	0.54541	T	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.091955	0.999997	0.58761	D	2.725	0.79712	M	-2.83	0.91249	D	-3.92	0.73893	D	0.596	0.68777	0.807	0.94495	D	0.822	0.94005	D	10	0.5833216	0.65971	D	0.36887	0.92696	D	0.597	0.84019	0.452	0.51448	0.984123797572	0.98395	0.6409472262836828	0.64029	1.14500881374	0.79049	0.683301985264	0.64743	T	0.653193	0.89501	D	-0.101521	0.36172	T	-0.00775951	0.69831	D	0.745838344097137	0.43054	D	0.863014	0.67021	D	0.7245936	0.79418	0.4753445	0.69597	0.7245936	0.79420	0.4753445	0.69597	-7.525	0.57786	D	.	.	0.448	0.62127	A	.;.;.;.	.;.;.;.	3.923281	0.57294	23.8	0.99900889815057647	0.97275	0.92366	0.55545	D	AEFDBCI	0.777923	0.71058	D	0.595003591664292	0.72862	5.87297	0.558233521088791	0.71973	5.736989	0.999999997857011	0.74766	0.67177	0.52595	0	0.563428	0.19063	0	0.658983	0.55881	0	0.711	0.71501	0	.	.	5.79	4.9	0.63643	4.919000	0.63082	2.184000	0.31153	-0.218000	0.08083	1.000000	0.71638	0.975000	0.29991	0.828000	0.39026	0.0:0.8709:0.1291:0.0	16.773	0.85403	912	0.21483	Lipase/vitellogenin|Lipase, N-terminal;Lipase/vitellogenin|Lipase, N-terminal;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1274.33	33	chr18	49581514	.	C	T	1274.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.563;DP=751;ExcessHet=0;FS=5.422;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.11;ReadPosRankSum=-0.261;SOR=0.875	GT:AD:DP:GQ:PL	0/1:71,55:126:99:1288,0,1948	18	0	1	0
chr18	50251764	50251764	C	T	exonic	CFAP53	.	nonsynonymous SNV	CFAP53:NM_145020:exon4:c.G494A:p.R165H	Heterotaxy, visceral, 6, autosomal recessive, Autosomal recessive	10	1505	6	1	0	8	0.00265076	.	.	.	532304	not_provided|Heterotaxy,_visceral,_6,_autosomal|CFAP53-related_disorder	MedGen:C3661900|MONDO:MONDO:0013887,MedGen:C3553676,OMIM:614779,Orphanet:450|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.172	0.0213929974462	0.0022	0.000798722	0.0024	0.0001	0.0009	0.0003	0.0020	0.0034	0.0033	0.0022	0.0023027	356	154602	rs138848935	0.0034	0.0034	0.0035	0.0033	0.0036	0.0033	0.0033	0.0033	0.0033	0.0005	0.0011	0.0170	0.0003	0.0011	0.0036	0.0034	0.0061	0.0024	0.0021	0.0021	0.0022	0.0020	0.0028	0.0019	0.0018	0.0025	0.0024	0.0004	0	0.0009	0.0199	0	0.0010	0	0.0028	0.0009	0.0017	0.0	0.91255	D	0.005	0.72224	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	.	.	.	2.0	0.21473	T	-3.76	0.71276	D	0.67	0.67822	-0.9586	0.39442	T	0.138	0.45508	T	10	0.006061405	0.00136	T	0.021393	0.44151	T	0.172	0.43662	.	.	0.422040124859	0.41822	0.2729855434709832	0.27211	0.417745085427	0.42384	0.480702579021	0.36153	T	0.127136	0.45396	T	-0.23062	0.16567	T	-0.107097	0.62841	T	0.0315478441424417	0.02234	T	0.740126	0.35895	T	0.64005506	0.74834	0.58659947	0.76023	0.67406607	0.76652	0.57435787	0.75345	-9.088	0.68261	D	0.7115408867780539	0.79183	0.130	0.27851	B	.	.	4.562850	0.71921	25.7	0.99947543505911152	0.99913	0.91836	0.54368	D	AEFBI	0.551048	0.56327	D	0.701475539506123	0.79728	7.139553	0.670113134032248	0.80114	7.227928	0.999996717444784	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	5.32	5.32	0.75377	3.868000	0.55768	4.017000	0.41215	0.599000	0.40250	0.997000	0.40164	0.999000	0.35428	0.975000	0.56047	0.0:1.0:0.0:0.0	16.508	0.84124	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	0.003021	0.000000	0.002717	0.008772	0.000000	0.000000	0.003049	0.000000	0.02632	1451.33	35	chr18	50251764	.	C	T	1451.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.49;DP=779;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.56;ReadPosRankSum=-0.306;SOR=0.708	GT:AD:DP:GQ:PL	0/1:55,52:107:99:1465,0,1221	18	0	1	0
chr18	63393489	63393489	A	G	exonic	VPS4B	.	nonsynonymous SNV	VPS4B:NM_004869:exon10:c.T1153C:p.S385P	.	435	1083	4	0	0	4	0.00184332	.	.	.	2376651	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.609	0.145772853476	0.0003	0.000199681	0.0005	9.614e-05	0.0004	0	0	0.0006	0.0011	0.0006	0.0004528	70	154602	rs140107443	0.0004	0.0004	0.0003	0.0004	0.0050	0.0004	0.0003	0.0036	0.0031	8.979e-05	0.0003	0.0002	0	3.746e-05	0.0050	0.0003	0.0007	0.0010	0.0003	0.0003	0.0002	0.0003	0.0006	0.0002	0.0002	0.0003	0.0002	7.215e-05	0	0.0006	0	0	0	0	0.0004	0.0005	0.0004	0.023	0.48186	D	0.061	0.45530	T	0.185	0.29232	B	0.159	0.34693	B	0.000000	0.84330	D	0.053884	1	0.81001	D	3.4	0.91674	M	-3.62	0.95077	D	-4.33	0.76740	D	0.556	0.58117	0.771	0.94053	D	0.858	0.95275	D	10	0.22378603	0.39166	T	0.145773	0.82794	D	0.609	0.84666	.	.	0.962447396435	0.96204	0.7826291097139142	0.78213	0.986146915518	0.73913	0.70440530777	0.67781	T	0.63026	0.88531	D	-0.0449276	0.45215	T	0.0821617	0.75722	D	0.170304705672137	0.18601	T	0.936306	0.76101	D	0.91066474	0.92357	0.81769466	0.89391	0.91066474	0.92358	0.81769466	0.89391	-13.534	0.91443	D	.	.	0.618	0.69636	P	.	.	4.325113	0.66232	24.9	0.99741701895550605	0.83555	0.99076	0.90873	D	AEFGBI	0.925007	0.90388	D	0.398928826599956	0.61365	4.33651	0.502992847896925	0.68190	5.186174	0.999697591619947	0.41870	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.92	5.92	0.95557	7.362000	0.78764	11.143000	0.87128	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	16.347	0.82972	853	0.34956	Vps4 oligomerisation, 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	0.003024	0.000000	0.004076	0.000000	0.000000	0.008621	0.006135	0.000000	0.02632	728.33	33	chr18	63393489	.	A	G	728.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.266;DP=705;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.14;ReadPosRankSum=-0.111;SOR=0.575	GT:AD:DP:GQ:PL	0/1:30,30:60:99:742,0,794	18	0	1	0
chr18	63493075	63493075	T	C	exonic	SERPINB5	.	nonsynonymous SNV	SERPINB5:NM_002639:exon5:c.T547C:p.C183R	.	421	1098	3	0	0	3	0.00136426	.	.	.	2241261	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.212	0.0323002811845	0.0008	0.000399361	0.0006	9.615e-05	0.0009	0	0.0002	0.0008	0.0011	0.0002	0.0005627	87	154602	rs140393612	0.0006	0.0006	0.0006	0.0007	0.0036	0.0006	0.0006	0.0024	0.0021	2.987e-05	0.0003	0.0012	0	5.616e-05	0.0036	0.0007	0.0007	0.0006	0.0005	0.0005	0.0004	0.0005	0.0008	0.0004	0.0003	0.0006	0.0006	2.406e-05	0	0.0006	0.0006	0	9.409e-05	0	0.0008	0.0005	0.0004	0.505	0.07619	T	0.562	0.92824	T	0.004	0.12183	B	0.004	0.10090	B	0.014233	0.28595	N	0.404755	1	0.81001	D	0.955	0.23872	L	-1.66	0.82715	D	-1.74	0.41239	N	0.29	0.32812	-0.7577	0.57530	T	0.322	0.69099	T	10	0.030227125	0.01149	T	0.032	0.54161	D	0.212	0.50341	.	.	0.650222326566	0.64731	0.8426817817173708	0.84229	0.103735805567	0.11741	0.551106452942	0.46013	T	0.185147	0.53803	T	-0.279734	0.10696	T	-0.256379	0.49185	T	0.00980644037881255	0.00129	T	0.59564	0.22108	T	0.3233762	0.54924	0.2944775	0.55477	0.3233762	0.54924	0.2944775	0.55477	-1.554	0.01878	T	.	.	0.170	0.50213	B	.;.	.;.	1.835853	0.23322	15.97	0.81995687941781026	0.13965	0.66540	0.33114	D	AEFDGBCIJ	0.352241	0.44507	N	-0.523546159901554	0.21321	1.130594	-0.325996904356216	0.27262	1.511501	0.999972716204875	0.50053	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	6.05	3.66	0.41111	2.017000	0.40600	2.312000	0.32082	-0.123000	0.13640	1.000000	0.71638	1.000000	0.68203	0.930000	0.46718	0.0:0.133:0.0:0.867	10.453	0.43719	846	0.36215	Serpin domain|Serpin domain|Maspin;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.002717	0.002924	0.000000	0.008621	0.006098	0.000000	0.02632	1051.33	159	chr18	63493075	.	T	C	1051.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.352;DP=1682;ExcessHet=0;FS=7.702;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.83;ReadPosRankSum=0.78;SOR=0.286	GT:AD:DP:GQ:PL	0/1:61,46:107:99:1065,0,1800	18	0	1	0
chr18	63661204	63661204	T	C	exonic	SERPINB3	.	nonsynonymous SNV	SERPINB3:NM_006919:exon2:c.A13G:p.S5G	.	426	1092	4	0	0	4	0.00182815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.130	0.0163309996343	.	0.000599042	0.0005	0	0	0	0	1.501e-05	0.0011	0.0035	0.0004269	66	154602	rs546374165	0.0002	0.0002	0.0001	0.0003	0.0030	0.0002	0.0002	0.0027	0.0026	0	0	0	0	0	0.0002	3.599e-06	0.0003	0.0030	0.0001	0.0001	7.711e-05	0.0002	0.0037	7.574e-05	6.28e-05	0.0024	0.0020	0	0	0	0	0	0	0	0	0	0.0037	0.316	0.13744	T	0.167	0.30729	T	0.005	0.12996	B	0.007	0.15521	B	0.039485	0.24165	N	0.294976	1	0.08975	N	1.79	0.46772	L	-1.72	0.83241	D	-1.52	0.36980	N	0.157	0.16308	-0.8439	0.52386	T	0.327	0.69504	T	10	0.007665664	0.00174	T	0.016331	0.37534	T	0.130	0.35528	0.527	0.63263	0.726869068272	0.72444	0.22630962744311578	0.22545	0.0235759496406	0.02391	0.294785737991	0.09626	T	0.091755	0.38862	T	-0.465999	0.00901	T	-0.445203	0.28227	T	0.0212678316978878	0.00828	T	0.0420958	0.00548	T	0.1217021	0.28613	0.048210476	0.07112	0.1217021	0.28612	0.048210476	0.07112	-7.695	0.58994	D	.	.	0.087	0.11366	B	.;.	.;.	0.070126	0.04788	1.401	0.77588393344008344	0.11939	0.04269	0.09804	N	AEFGBCI	0.040682	0.06085	N	-0.996639500804049	0.08675	0.4076623	-1.08572889019857	0.07980	0.3904379	0.00899211723481954	0.11778	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	3.13	-0.548	0.11241	0.214000	0.17331	-9.477000	0.00816	-0.318000	0.05900	0.000000	0.06391	0.000000	0.08366	0.507000	0.29175	0.2075:0.3917:0.0:0.4008	3.147	0.06088	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	0.001009	0.000000	0.000000	0.000000	0.000000	0.000000	0.003067	0.000000	0.02632	1359.33	33	chr18	63661204	.	T	C	1359.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.623;DP=730;ExcessHet=0;FS=2.217;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=49.32;MQRankSum=-5.966;QD=14.46;ReadPosRankSum=0.492;SOR=0.402	GT:AD:DP:GQ:PL	0/1:37,57:94:99:1373,0,1100	18	0	1	0
chr18	65824683	65824683	C	G	exonic	CDH7	.	nonsynonymous SNV	CDH7:NM_001317214:exon6:c.C833G:p.A278G,CDH7:NM_001362438:exon6:c.C833G:p.A278G,CDH7:NM_004361:exon6:c.C833G:p.A278G,CDH7:NM_033646:exon6:c.C833G:p.A278G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.00490096248541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.072800	0.21387	N	0.451193	0.982979	0.39957	D	-3.075	0.00011	N	1.84	0.24656	T	3.87	0.00076	N	0.227	0.25499	-0.9038	0.47583	T	0.008	0.02884	T	10	0.04493016	0.03505	T	0.004901	0.12318	T	0.155	0.40530	0.546	0.66015	0.15499578495	0.15088	0.21276109158363124	0.21192	0.352591177131	0.37089	0.615600824356	0.55106	T	0.044351	0.26789	T	-0.291422	0.09494	T	-0.656384	0.08512	T	0.0723997502850542	0.08984	T	0.824517	0.48627	T	0.09681208	0.22810	0.12931228	0.31094	0.09681208	0.22809	0.12931228	0.31094	3.359	0.00015	T	.	.	0.078	0.06663	B	.;.;.	.;.;.	2.090507	0.26594	17.17	0.15872056406126045	0.00404	0.74711	0.36555	D	AEFDGBI	0.136260	0.25686	N	-0.923050984542219	0.10304	0.4917672	-0.581236897984816	0.19982	1.074571	0.870688873629593	0.25410	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.65	3.76	0.42368	1.558000	0.35917	3.329000	0.37611	0.589000	0.31548	0.946000	0.32893	0.998000	0.33993	0.969000	0.54022	0.0:0.7002:0.2998:0.0	13.494	0.60866	994	0.00715	Cadherin-like;Cadherin-like;Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4737	3265.29	67	chr18	65824683	.	C	G	3265.29	.	AC=18;AF=0.474;AN=38;BaseQRankSum=0.376;DP=1741;ExcessHet=38.2876;FS=194.625;InbreedingCoeff=-0.8995;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=2.24;ReadPosRankSum=1.26;SOR=12.236	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:55,13:68:48:.:.:48,0,1355:.	1	0	18	0
chr18	77250607	77250607	C	A	exonic	GALR1	.	nonsynonymous SNV	GALR1:NM_001480:exon1:c.C59A:p.A20D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	.	0.0021	0.00359425	0.0020	0.0315	0.0014	0	0	0	0	0.0001	0.0006792	105	154602	rs200473944	0.0003	0.0003	0.0004	0.0003	0.0120	0.0003	0.0003	0.0110	0.0106	0.0120	0.0004	0	0	0	0	6.418e-06	0.0008	2.452e-05	0.0029	0.0029	0.0030	0.0028	0.0100	0.0027	0.0026	0.0092	0.0089	0.0100	0	0.0018	0	0	0	0	0	0.0009	0	0.333	0.13003	T	0.589	0.08245	T	0.0	0.02946	B	0.001	0.04355	B	0.424596	0.04669	N	1.329550	1	0.08975	N	1.43	0.35840	L	1.24	0.36691	T	-0.71	0.20145	N	0.142	0.14196	-1.0535	0.13440	T	0.025	0.10598	T	10	0.003326267	0.00057	T	.	.	.	0.058	0.16647	.	.	0.390531646278	0.38663	0.34474541254480096	0.34387	0.626998182673	0.56810	0.45487177372	0.32610	T	0.084443	0.37280	T	-0.65598	0.00067	T	-0.704658	0.05575	T	0.000453454832301789	0.00004	T	0.280872	0.04893	T	0.121967465	0.28670	0.108895555	0.26239	0.121967465	0.28670	0.108895555	0.26238	-4.828	0.34916	T	.	.	0.113	0.22354	B	.	.	0.518316	0.08869	5.651	0.55030996674749189	0.05258	0.16554	0.19443	N	AEFDBCI	0.099399	0.20009	N	-1.0116528213942	0.08361	0.3917587	-1.05826348323869	0.08535	0.4201402	0.98792561217158	0.31374	0.59774	0.34471	0	0.59043	0.45803	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	4.78	0.154	0.14196	-0.473000	0.06694	0.176000	0.15576	-0.234000	0.07639	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2158:0.4825:0.2231:0.0786	4.829	0.12796	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	0.002041	0.000000	0.006793	0.000000	0.000000	0.008772	0.000000	0.000000	0.02632	758.33	34	chr18	77250607	.	C	A	758.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.695;DP=682;ExcessHet=0;FS=1.358;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.87;ReadPosRankSum=-0.397;SOR=0.445	GT:AD:DP:GQ:PL	0/1:24,27:51:99:772,0,714	18	0	1	0
chr18	80133144	80133144	C	A	exonic	ADNP2	.	nonsynonymous SNV	ADNP2:NM_014913:exon3:c.C150A:p.N50K	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.268	0.10284239855	0.0004	0.000199681	0.0002	0	0.0005	0	0	0.0002	0	0	0.0001358	21	154602	rs138962680	0.0001	0.0001	0.0001	0.0002	0.0016	0.0001	0.0001	0.0008	0.0006	0	0.0005	0.0015	0	0	0.0016	9.267e-05	0.0004	1.164e-05	0.0002	0.0002	0.0003	0.0002	0.0007	0.0002	0.0002	0.0004	0.0003	4.816e-05	0	0.0007	0.0020	0	0	0.0136	0.0001	0.0019	0	0.008	0.65419	D	0.006	0.92824	D	0.873	0.47975	P	0.466	0.46637	P	0.000073	0.52346	D	0.078082	0.51659	0.31862	D	2.545	0.74286	M	-0.57	0.71307	T	-3.41	0.71639	D	0.405	0.44570	-0.5385	0.67220	T	0.250	0.61912	T	9	0.046792507	0.03915	T	0.102842	0.77653	D	0.268	0.58254	0.548	0.66296	0.913983924229	0.91312	0.42479770281518225	0.42396	0.738166198313	0.63100	0.585397660732	0.50845	T	0.289579	0.66237	T	-0.295581	0.09082	T	-0.346202	0.39641	T	0.267872095108032	0.23656	T	0.840116	0.51512	T	0.3929291	0.60240	0.29645896	0.55678	0.3929291	0.60240	0.29645896	0.55678	-4.507	0.30980	T	.	.	0.542	0.73442	A	.;.;.	.;.;.	2.164154	0.27577	17.51	0.98955296304660056	0.49227	0.90481	0.51693	D	AEFGBI	0.099676	0.20059	N	-0.390425469582793	0.25808	1.403816	-0.462155216014317	0.23205	1.264252	0.996615444246463	0.34869	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.05	-1.35	0.08638	1.210000	0.31975	0.686000	0.20722	-0.347000	0.05626	1.000000	0.71638	0.999000	0.35428	0.669000	0.33223	0.0:0.4682:0.0:0.5318	10.931	0.46432	.	.	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.02632	855.33	35	chr18	80133144	.	C	A	855.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.34;DP=708;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.83;ReadPosRankSum=0.551;SOR=0.65	GT:AD:DP:GQ:PL	0/1:43,36:79:99:869,0,997	18	0	1	0
chr19	813580	813580	G	A	exonic	PLPPR3	.	nonsynonymous SNV	PLPPR3:NM_024888:exon7:c.C1231T:p.P411S,PLPPR3:NM_001270366:exon8:c.C1147T:p.P383S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.173	0.11600699912	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1220820905	2.138e-06	8.893e-06	1.409e-06	2.884e-06	8.238e-05	5.7e-07	1.6e-07	2.183e-05	1.105e-05	0	0	0	8.238e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.41096	D	0.059	0.45961	T	0.274	0.43566	B	0.16	0.42942	B	0.003826	0.34438	U	0.225765	0.996652	0.43334	D	.	.	.	1.52	0.30669	T	-3.43	0.67359	D	0.331	0.47949	-0.9685	0.37510	T	0.103	0.37844	T	10	0.28060505	0.45635	T	0.116007	0.79536	D	0.173	0.43840	0.205	0.12076	0.465294738428	0.46155	0.32685404325696754	0.32598	1.20439237927	0.80646	0.729490876198	0.71432	T	0.067421	0.33199	T	-0.116277	0.33733	T	-0.404801	0.32827	T	0.782616913318634	0.45214	D	0.820618	0.72230	T	0.19022903	0.40599	0.1940192	0.43002	0.19022903	0.40599	0.1940192	0.43001	-3.502	0.16798	T	.	.	0.118	0.24192	B	.;.	.;.	2.804154	0.36894	20.4	0.9981250693591337	0.89620	0.99459	0.96293	D	AEFDGBHCI	0.901826	0.84899	D	0.162650489689741	0.49413	3.141938	0.170153816148647	0.48218	3.040881	0.999999909690352	0.74766	0.634777	0.41761	0	0.379588	0.06130	0	0.643519	0.47002	0	0.664235	0.64389	0	.	.	4.13	4.13	0.47661	5.396000	0.66042	11.702000	0.94515	0.468000	0.21784	1.000000	0.71638	1.000000	0.68203	0.024000	0.12247	0.0:0.0:1.0:0.0	15.382	0.74383	994	0.00715	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	650.33	35	chr19	813580	.	G	A	650.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.612;DP=715;ExcessHet=0;FS=1.142;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.27;ReadPosRankSum=-1.346;SOR=0.426	GT:AD:DP:GQ:PL	0/1:28,25:53:99:664,0,822	18	0	1	0
chr19	5766146	5766146	T	C	exonic	CATSPERD	.	nonsynonymous SNV	CATSPERD:NM_152784:exon17:c.T1550C:p.V517A	.	434	1086	2	0	0	2	0.000919963	.	.	.	4118998	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.076	0.00363870104672	.	0.000199681	7.597e-05	0	0	0	0	1.517e-05	0	0.0005	6.47e-05	10	154602	rs531770682	5.408e-05	5.472e-05	3.405e-05	7.43e-05	0.0008	4.413e-05	4.085e-05	0.0006	0.0006	0	0	0	0	0	0.0003	8.097e-06	3.315e-05	0.0008	4.604e-05	4.595e-05	3.86e-05	5.382e-05	0.0010	2.111e-05	1.528e-05	0.0004	0.0003	2.411e-05	0	0	0	0	0	0	1.471e-05	0	0.0010	0.384	0.11050	T	0.013	0.63109	D	0.988	0.62325	D	0.647	0.52336	P	0.450311	0.12516	N	0.648862	1	0.08975	N	1.935	0.51832	L	1.79	0.25509	T	-2.44	0.53420	N	0.657	0.66700	-1.0825	0.06871	T	0.066	0.27330	T	10	0.20600018	0.36845	T	0.003639	0.08371	T	0.076	0.22200	0.284	0.24121	0.281381271821	0.27740	0.36242192615293783	0.36156	0.290016544937	0.31410	0.433855056763	0.29736	T	0.004478	0.03887	T	-0.439275	0.01306	T	-0.4965	0.22710	T	0.768999218940735	0.44379	D	0.415758	0.10904	T	0.0919567	0.21561	0.084603846	0.19475	0.0919567	0.21561	0.084603846	0.19475	-7.622	0.58464	D	.	.	0.300	0.53001	B	.	.	3.288363	0.45089	22.1	0.97469247033080508	0.34126	0.08731	0.14618	N	AEFI	0.038098	0.05342	N	-0.212938936817115	0.32602	1.840402	-0.382368017284461	0.25522	1.404099	3.30774488756497E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.05	3.05	0.34272	2.630000	0.46160	2.760000	0.34598	0.661000	0.55757	0.037000	0.20830	0.168000	0.23319	0.058000	0.15825	0.0:0.0:0.0:1.0	7.899	0.28886	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	.	.	.	.	.	.	.	.	0.02632	602.33	43	chr19	5766146	.	T	C	602.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.438;DP=751;ExcessHet=0;FS=1.117;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.05;ReadPosRankSum=-0.019;SOR=0.432	GT:AD:DP:GQ:PL	0/1:25,25:50:99:616,0,593	18	0	1	0
chr19	6039981	6039981	G	A	exonic	RFX2	.	nonsynonymous SNV	RFX2:NM_000635:exon5:c.C521T:p.T174M,RFX2:NM_134433:exon5:c.C521T:p.T174M	.	420	1101	1	0	0	1	0.000453926	0.9870	0.726	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.227	0.0409893320321	.	.	3.546e-05	0	0	0	0	7.288e-05	0	0	2.59e-05	4	154602	rs754012291	7.758e-05	8.345e-05	8.766e-05	6.723e-05	0.0002	6.58e-05	6.123e-05	7.873e-05	7.348e-05	3.089e-05	0	0	0	0	0.0002	9.397e-05	3.423e-05	4.833e-05	5.912e-05	5.91e-05	3.853e-05	8.067e-05	8.818e-05	3.076e-05	2.209e-05	3.761e-05	2.575e-05	4.824e-05	0	6.541e-05	0	0	0	0	8.818e-05	0	0	0.039	0.78490	D	0.061	0.49120	T	0.958	0.58077	D	0.317	0.51338	B	0.000000	0.84330	D	0.045258	0.999998	0.81001	D	1.78	0.46185	L	-0.26	0.83157	T	-4.11	0.79482	D	0.252	0.48872	-0.6147	0.64209	T	0.243	0.61154	T	10	0.32990584	0.56750	T	0.040989	0.59680	D	0.227	0.52620	0.183	0.09131	0.403154071476	0.39927	0.5617023730769887	0.56097	0.278509113372	0.30333	0.486155122519	0.36905	T	0.241543	0.61010	T	0.0153634	0.53753	T	-0.215708	0.53149	T	0.884796679019928	0.53506	D	0.944805	0.79065	D	0.32595474	0.55137	0.25876147	0.51613	0.32595474	0.55137	0.25876147	0.51612	-11.984	0.84773	D	.	.	0.095	0.71982	B	.;.;.;.	.;.;.;.	4.197724	0.63317	24.6	0.99702667875713658	0.80729	0.93436	0.58212	D	AEFDGBI	0.748476	0.69022	D	0.408223822663427	0.61874	4.394476	0.485755278514795	0.67047	5.031838	0.999999999810584	0.74766	0.615465	0.37627	0	0.732153	0.95553	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.48	5.48	0.80675	6.862000	0.75281	11.570000	0.93280	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.657000	0.32885	0.0:0.0:1.0:0.0	17.934	0.88926	915	0.20917	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1479.33	35	chr19	6039981	.	G	A	1479.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.07;DP=731;ExcessHet=0;FS=3.903;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.57;ReadPosRankSum=0.219;SOR=1.098	GT:AD:DP:GQ:PL	0/1:39,56:95:99:1493,0,772	18	0	1	0
chr19	6903869	6903869	A	T	exonic	ADGRE1	.	nonsynonymous SNV	ADGRE1:NM_001256254:exon4:c.A298T:p.S100C,ADGRE1:NM_001256252:exon6:c.A565T:p.S189C,ADGRE1:NM_001256253:exon7:c.A721T:p.S241C,ADGRE1:NM_001974:exon7:c.A721T:p.S241C	.	431	1067	24	0	0	24	0.0111214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.810	0.0720868995087	0.0006	0.000599042	0.0014	0	0.0015	0	0	0.0013	0.0044	0.0040	0.001313	203	154602	rs143245445	0.0014	0.0014	0.0014	0.0015	0.0085	0.0014	0.0014	0.0066	0.0059	0.0004	0.0020	0.0010	0	7.488e-05	0.0085	0.0013	0.0016	0.0042	0.0012	0.0012	0.0010	0.0013	0.0037	0.0010	0.0010	0.0029	0.0026	0.0003	0	0.0037	0.0009	0	0	0.0102	0.0013	0.0009	0.0031	0.002	0.72154	D	0.005	0.74150	D	0.999	0.77913	D	0.939	0.67449	D	.	.	.	.	1	0.81001	D	.	.	.	-3.69	0.95317	D	-3.32	0.72240	D	0.456	0.49328	0.894	0.95590	D	0.925	0.97534	D	9	0.031084388	0.01240	T	0.072087	0.71442	D	0.810	0.93854	.	.	0.897640241601	0.89662	0.8801396426961889	0.87981	0.49416716241	0.47986	0.270196586847	0.06167	T	0.532239	0.83834	D	-0.125525	0.32222	T	0.0463957	0.73345	D	0.100894652445659	0.12455	T	0.966803	0.87909	D	0.7029911	0.78220	0.6367117	0.78787	0.7029911	0.78222	0.6367117	0.78788	-10.464	0.78421	D	.	.	0.411	0.72659	A	.;.;.;.;.	.;.;.;.;.	4.076074	0.60593	24.2	0.9869083316594065	0.44752	0.77892	0.38353	D	AEFBI	0.177539	0.30479	N	0.478812546250502	0.65852	4.875163	0.308242605595077	0.56024	3.765254	2.19506054299225E-4	0.05997	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.35	2.32	0.27895	1.326000	0.33341	3.236000	0.36937	0.745000	0.86679	0.999000	0.42656	0.998000	0.33993	0.997000	0.79791	0.8621:0.0:0.1379:0.0	5.539	0.16317	976	0.04745	.;.;Complement Clr-like EGF domain|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;.;EGF-like calcium-binding domain|EGF-like calcium-binding, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008065	0.000000	0.006793	0.008772	0.000000	0.000000	0.015337	0.007576	0.02632	1776.33	34	chr19	6903869	.	A	T	1776.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.613;DP=757;ExcessHet=0;FS=2.285;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.1;ReadPosRankSum=-1.17;SOR=0.496	GT:AD:DP:GQ:PL	0/1:58,68:126:99:1790,0,1478	18	0	1	0
chr19	6924768	6924768	C	T	exonic	ADGRE1	.	nonsynonymous SNV	ADGRE1:NM_001256254:exon12:c.C1459T:p.R487C,ADGRE1:NM_001256255:exon12:c.C1351T:p.R451C,ADGRE1:NM_001256252:exon14:c.C1726T:p.R576C,ADGRE1:NM_001974:exon15:c.C1882T:p.R628C	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.211	0.00780276355448	0.0002	.	0.0001	0	8.642e-05	0.0005	0	7.493e-05	0	0.0002	0.00011	17	154602	rs148887520	6.772e-05	6.84e-05	4.628e-05	8.938e-05	0.0006	5.67e-05	5.26e-05	0.0004	0.0004	0.0001	0	0	0.0006	0	0.0002	2.338e-05	1.656e-05	0.0005	4.602e-05	4.597e-05	5.141e-05	4.038e-05	0.0004	2.11e-05	1.528e-05	7.296e-05	3.031e-05	4.829e-05	0	0	0	0.0002	0	0	2.94e-05	0	0.0004	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.966	0.71341	D	.	.	.	.	0.999996	0.23574	N	.	.	.	0.29	0.58897	T	-6.58	0.91956	D	0.668	0.67908	-0.5187	0.67962	T	0.466	0.79367	T	9	0.6317822	0.68558	D	0.007803	0.20694	T	0.211	0.50185	.	.	0.520694202979	0.51714	0.2851850137103042	0.28431	0.589588781802	0.54453	0.258762776852	0.04744	T	0.500912	0.82132	D	-0.223354	0.17537	T	-0.202232	0.54435	T	0.505847707898363	0.32844	D	0.919408	0.73215	D	0.64611316	0.75156	0.54493326	0.73696	0.64611316	0.75158	0.54493326	0.73696	-10.261	0.76663	D	.	.	0.119	0.29311	B	.;.;.;.	.;.;.;.	4.924440	0.81138	27.5	0.99611992649079761	0.74873	0.73036	0.35732	D	AEFGBI	0.614949	0.60207	D	0.200377853092169	0.51219	3.304816	-0.0613382168864074	0.37003	2.16083	9.22143665043053E-4	0.08013	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.61	2.54	0.29674	5.498000	0.66648	2.565000	0.33334	0.599000	0.40250	0.967000	0.34061	0.022000	0.20871	0.780000	0.36908	0.2331:0.7669:0.0:0.0	8.475	0.32171	976	0.04745	.;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	.	.	.	.	.	.	.	.	0.02632	1527.33	34	chr19	6924768	.	C	T	1527.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.12;DP=855;ExcessHet=0;FS=0.597;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.92;ReadPosRankSum=-1.693;SOR=0.619	GT:AD:DP:GQ:PL	0/1:82,72:154:99:1541,0,1937	18	0	1	0
chr19	8491116	8491118	GTG	-	exonic	PRAM1	.	nonframeshift deletion	PRAM1:NM_032152:exon5:c.1616_1618del:p.P539del	.	417	1099	6	0	0	6	0.00272232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.5e-05	.	6.035e-05	0	0.0004	0	0	3.12e-05	0	6.155e-05	4.53e-05	7	154602	rs779212165	6.85e-05	6.977e-05	5.725e-05	7.985e-05	0.0009	5.72e-05	5.333e-05	0.0003	0.0002	2.987e-05	0.0002	0	2.519e-05	0	0.0009	7.285e-05	3.314e-05	2.319e-05	3.942e-05	3.94e-05	0	8.068e-05	5.879e-05	1.715e-05	1.129e-05	1.972e-05	1.124e-05	2.413e-05	0	0	0	0	9.413e-05	0	5.879e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000504	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2895.29	51	chr19	8491115	.	TGTG	T	2895.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.145;DP=947;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=21.13;ReadPosRankSum=-0.094;SOR=0.752	GT:AD:DP:GQ:PL	0/1:63,74:137:99:2909,0,2413	18	0	1	0
chr19	8541954	8541954	C	T	exonic	MYO1F	.	nonsynonymous SNV	MYO1F:NM_001348355:exon15:c.G1550A:p.R517Q,MYO1F:NM_012335:exon15:c.G1562A:p.R521Q	.	423	1096	3	0	0	3	0.00136674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.855	0.318173015559	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1400523125	2.053e-06	2.052e-06	0	4.127e-06	1.799e-06	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	1.893e-05	0	1.799e-06	0	0	1.973e-05	1.97e-05	0	4.039e-05	4.412e-05	5.25e-06	2.46e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.412e-05	0	0	0.005	0.63226	D	0.009	0.66756	D	0.999	0.77913	D	0.97	0.72226	D	0.000136	0.49741	D	0.078087	1	0.81001	D	3.055	0.86842	M	-2.27	0.87433	D	-3.53	0.68532	D	0.942	0.94904	0.885	0.95470	D	0.827	0.94196	D	10	0.95763516	0.95139	D	0.318173	0.91393	D	0.855	0.95544	0.729	0.86286	0.873298916305	0.87206	0.6179878133505937	0.61731	1.57570764187	0.88294	0.696632027626	0.66658	T	0.858315	0.96834	D	0.302414	0.83162	D	0.19662	0.82944	D	0.992473363876343	0.82962	D	0.992892	0.97700	D	0.37880328	0.59230	0.26989877	0.52875	0.37880328	0.59230	0.26989877	0.52874	-12.505	0.87223	D	.	.	0.887	0.81933	P	.;.;.	.;.;.	5.038690	0.83855	28.2	0.99954702541325968	0.99969	0.98602	0.84577	D	AEFDBI	0.886388	0.81773	D	0.785252469943639	0.85175	8.498326	0.678208836692281	0.80727	7.363715	0.999999969458392	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.95	4.95	0.64894	7.874000	0.85582	.	.	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.128000	0.19490	0.0:1.0:0.0:0.0	16.738	0.85311	622	0.65860	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;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class I 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	.	.	.	.	.	.	.	.	0.02632	1594.33	34	chr19	8541954	.	C	T	1594.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.134;DP=779;ExcessHet=0;FS=1.376;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.08;ReadPosRankSum=-0.546;SOR=0.574	GT:AD:DP:GQ:PL	0/1:65,67:132:99:1608,0,1479	18	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	.	.	.	.	.	.	.	.	0.1579	8786.25	558	chr19	8888803	.	G	A	8786.25	.	AC=6;AF=0.158;AN=38;BaseQRankSum=-0.756;DP=9279;ExcessHet=2.0135;FS=1.656;InbreedingCoeff=-0.2042;MLEAC=6;MLEAF=0.158;MQ=57.33;MQRankSum=-6.204;QD=3;ReadPosRankSum=1.62;SOR=0.555	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:397,106:503:99:0|1:8888803_G_A:2883,0,15677:8888803	13	0	6	0
chr19	8888826	8888826	T	0	exonic	MUC16	.	.	.	.	415	770	176	0	161	337	0.102564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4474	423.41	466	chr19	8888826	.	T	*	423.41	.	AC=17;AF=0.447;AN=38;BaseQRankSum=2.69;DP=7860;ExcessHet=48.2876;FS=8.285;InbreedingCoeff=-1;MLEAC=17;MLEAF=0.447;MQ=57.63;MQRankSum=-9.46;QD=0.05;ReadPosRankSum=0.739;SOR=1.296	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:295,82:431:99:0|1:8888826_T_*:2555,0,12140:8888826	2	0	17	0
chr19	8937752	8937752	T	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon5:c.A33203G:p.E11068G	.	421	1094	7	0	0	7	0.00318907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.00174555133926	8.3e-05	.	2.485e-05	0	0	0	0	4.496e-05	0	0	1.94e-05	3	154602	rs201818421	2.943e-05	2.942e-05	2.723e-05	3.164e-05	0.0007	2.217e-05	1.971e-05	0.0002	0.0001	0	0	0	2.521e-05	0	0.0007	3.059e-05	6.627e-05	0	4.608e-05	4.601e-05	2.574e-05	6.739e-05	0.0001	2.113e-05	1.529e-05	4.767e-05	3.34e-05	0	0	0	0	0	0	0	0.0001	0	0	0.002	0.72154	D	0.084	0.41239	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.16	0.02791	T	-3.6	0.69357	D	0.065	0.03726	-0.9817	0.34608	T	0.010	0.03492	T	8	0.13254535	0.25228	T	0.001746	0.02934	T	0.013	0.01715	.	.	0.119812018005	0.11559	0.12659400756740377	0.12585	.	.	0.196456521749	0.00361	T	.	.	.	-0.434859	0.01386	T	-0.682125	0.06855	T	0.180613362338207	0.19273	T	0.231877	0.03140	T	.	.	.	.	.	.	.	.	-6.982	0.53902	T	.	.	0.144	0.31808	B	.	.	0.867159	0.12399	8.934	0.58903356990075362	0.06100	0.02276	0.06567	N	AEFDBI	0.024126	0.01446	N	-0.621578106438989	0.18298	0.9487891	-0.835206052055419	0.13644	0.7088795	1.33276890413787E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.26	-0.129	0.12843	-0.662000	0.05404	.	.	0.583000	0.30283	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.2596:0.2283:0.512	3.041	0.05768	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	.	.	.	.	.	.	.	.	0.02632	3417.33	222	chr19	8937752	.	T	C	3417.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.097;DP=3906;ExcessHet=0;FS=8.54;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.94;MQRankSum=0.96;QD=12.9;ReadPosRankSum=1.34;SOR=0.887	GT:AD:DP:GQ:PL	0/1:139,126:265:99:3431,0,3917	18	0	1	0
chr19	8964129	8964129	C	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon3:c.G12641A:p.G4214D	.	426	1092	4	0	0	4	0.00182815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.00139745083586	.	.	3.318e-05	0	0	0	0	3e-05	0	0.0001	2.59e-05	4	154602	rs780594828	1.847e-05	1.915e-05	1.77e-05	1.926e-05	0.0010	1.265e-05	1.084e-05	0.0005	0.0003	0	2.237e-05	0	0	0	0.0010	9.894e-06	8.283e-05	4.638e-05	2.63e-05	2.627e-05	2.57e-05	2.693e-05	0.0001	8.15e-06	5.14e-06	2.262e-05	9.08e-06	0	0	0.0001	0	0	0	0	2.94e-05	0	0	0.129	0.26852	T	0.006	0.70582	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.91	0.23283	T	-1.69	0.40274	N	0.125	0.11769	-1.0360	0.18544	T	0.028	0.11971	T	8	0.059600323	0.07189	T	0.001397	0.02062	T	0.092	0.26621	0.097	0.01334	0.0551355673512	0.04727	0.04115539750325086	0.04060	.	.	0.2228115201	0.01478	T	.	.	.	-0.425113	0.01587	T	-0.666894	0.07809	T	0.0108906490402136	0.00156	T	0.249275	0.03729	T	.	.	.	.	.	.	.	.	-4.321	0.28470	T	.	.	0.209	0.43599	B	.	.	-0.179869	0.03195	0.527	0.41242074016971603	0.02963	0.00102	0.00658	N	AEFBI	0.016913	0.00410	N	-1.3441362591351	0.03186	0.1419037	-1.47986091454833	0.02510	0.1155426	8.0881255992157E-4	0.07842	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	1.31	-2.61	0.05811	-2.451000	0.01083	.	.	0.333000	0.19617	0.000000	0.06391	0.000000	0.08366	0.079000	0.17189	0.3365:0.2901:0.0:0.3734	2.250	0.03793	905	0.23532	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2268.33	109	chr19	8964129	.	C	T	2268.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.67;DP=1951;ExcessHet=0;FS=4.508;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.66;ReadPosRankSum=-0.181;SOR=1.025	GT:AD:DP:GQ:PL	0/1:84,82:166:99:2282,0,2190	18	0	1	0
chr19	9757825	9757825	C	T	exonic	ZNF846	.	nonsynonymous SNV	ZNF846:NM_001353798:exon5:c.G865A:p.G289R,ZNF846:NM_001077624:exon6:c.G1252A:p.G418R,ZNF846:NM_001353799:exon6:c.G1249A:p.G417R	.	377	1128	16	1	0	18	0.00791557	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.0025198218614	0.0007	0.000998403	0.0008	0.0003	0.0004	0.0001	0	0.0009	0.0022	0.0018	0.000815	126	154602	rs78118057	0.0007	0.0007	0.0006	0.0008	0.0057	0.0007	0.0007	0.0042	0.0037	0.0001	0.0010	0	5.039e-05	1.872e-05	0.0057	0.0007	0.0012	0.0021	0.0010	0.0010	0.0010	0.0009	0.0035	0.0008	0.0008	0.0028	0.0025	0.0001	0	0.0035	0	0	0	0.0102	0.0009	0.0043	0.0027	0.018	0.50676	D	0.01	0.65728	D	0.998	0.73220	D	0.861	0.61279	P	.	.	.	.	1	0.81001	D	1.985	0.53793	M	4.72	0.01636	T	-7.56	0.95216	D	0.188	0.20528	-0.9866	0.33445	T	0.010	0.03492	T	8	0.016305774	0.00343	T	0.00252	0.05037	T	0.092	0.26621	0.402	0.43245	0.156986980423	0.15292	0.012246333069599663	0.01183	0.0754831300525	0.08464	0.358091592789	0.19107	T	0.076781	0.35499	T	-0.455752	0.01044	T	-0.457511	0.26870	T	0.109626964581686	0.13384	T	0.605039	0.22725	T	0.37053517	0.58624	0.38306525	0.63279	0.37053517	0.58625	0.38306525	0.63278	-8.044	0.61370	D	.	.	0.602	0.68946	P	.	.	2.732761	0.35776	19.99	0.99696630778219697	0.80316	0.00271	0.01473	N	AEFDBHCI	0.142696	0.26521	N	-0.272408540502247	0.30217	1.682853	-0.527505241717213	0.21408	1.157922	0.0131411454864635	0.12423	0.460665	0.09802	0	0.486142	0.07564	0	0.575934	0.27490	0	0.567892	0.33627	0	.	.	2.01	-0.196	0.12582	1.792000	0.38387	.	.	0.493000	0.22426	0.178000	0.24038	0.000000	0.08366	0.893000	0.43066	0.0:0.6966:0.0:0.3034	5.979	0.18627	906	0.23090	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	0.001511	0.000000	0.000000	0.002924	0.000000	0.000000	0.006098	0.000000	0.02632	1274.33	33	chr19	9757825	.	C	T	1274.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.25;DP=779;ExcessHet=0;FS=7.655;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.55;ReadPosRankSum=0.657;SOR=0.531	GT:AD:DP:GQ:PL	0/1:38,39:77:99:1288,0,1144	18	0	1	0
chr19	10359252	10359252	G	A	exonic	TYK2	.	nonsynonymous SNV	TYK2:NM_001385199:exon14:c.C1912T:p.R638W,TYK2:NM_001385201:exon14:c.C1900T:p.R634W,TYK2:NM_001385197:exon15:c.C2098T:p.R700W,TYK2:NM_001385198:exon15:c.C2098T:p.R700W,TYK2:NM_001385200:exon15:c.C2098T:p.R700W,TYK2:NM_001385203:exon15:c.C2098T:p.R700W,TYK2:NM_001385204:exon15:c.C2098T:p.R700W,TYK2:NM_001385205:exon15:c.C2008T:p.R670W,TYK2:NM_001385206:exon15:c.C1972T:p.R658W,TYK2:NM_001385207:exon15:c.C2080T:p.R694W,TYK2:NM_003331:exon15:c.C2098T:p.R700W,TYK2:NM_001385202:exon16:c.C2014T:p.R672W	Immunodeficiency 35, Autosomal recessive	1	1515	6	0	0	6	0.00197628	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.638	0.688951514796	.	.	3.527e-05	0	0	0.0004	0.0002	0	0	0	2.59e-05	4	154602	rs766131781	4.18e-05	4.446e-05	5.455e-05	2.893e-05	0.0005	3.316e-05	3.006e-05	0.0003	0.0003	5.974e-05	0	0	0.0005	1.96e-05	0.0002	3.148e-05	3.313e-05	1.16e-05	2.629e-05	2.626e-05	2.57e-05	2.69e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	2.413e-05	0	0	0	0.0002	0	0	2.94e-05	0	0	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.989	0.79672	D	0.004791	0.33389	N	0.127944	0.999918	0.58761	D	2.765	0.80766	M	-1.87	0.84415	D	-4.95	0.81910	D	0.734	0.73916	0.700	0.93175	D	0.770	0.92167	D	10	0.8909832	0.88440	D	0.688952	0.97436	D	0.638	0.86181	0.675	0.81299	0.866428657405	0.86512	0.6404422011368099	0.63979	0.956637058499	0.72843	0.452429115772	0.32276	T	0.629162	0.89423	D	-0.117035	0.33611	T	-0.0428557	0.67508	D	0.588689438836838	0.35955	D	0.955004	0.88094	D	0.56761074	0.70929	0.48864645	0.70411	0.56761074	0.70930	0.48864645	0.70411	-12.718	0.88168	D	.	.	0.135	0.41873	B	.;.;.;.	.;.;.;.	4.755712	0.76843	26.6	0.99925941479507341	0.99042	0.98409	0.82480	D	AEFDBI	0.703701	0.65965	D	0.655337625050763	0.76717	6.537889	0.560642212316703	0.72141	5.763255	0.999942527502328	0.47345	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.0	5.0	0.66209	2.536000	0.45351	8.435000	0.77180	0.639000	0.52094	0.892000	0.31242	1.000000	0.68203	0.043000	0.14563	0.0:0.0:1.0:0.0	15.825	0.78473	769	0.49307	Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1347.33	36	chr19	10359252	.	G	A	1347.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.73;DP=773;ExcessHet=0;FS=0.696;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.32;ReadPosRankSum=-1.686;SOR=0.812	GT:AD:DP:GQ:PL	0/1:69,50:119:99:1361,0,1603	18	0	1	0
chr19	12350239	12350239	C	T	exonic	ZNF442	.	nonsynonymous SNV	ZNF442:NM_001363774:exon3:c.G1139A:p.R380Q,ZNF442:NM_030824:exon6:c.G1346A:p.R449Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.000795333579005	0.0010	0.000798722	0.0003	0.0030	0.0002	0	0	4.497e-05	0	0	0.0002587	40	154602	rs146388788	0.0002	0.0002	0.0002	0.0002	0.0024	0.0002	0.0001	0.0019	0.0018	0.0024	0.0002	0	0	0	0.0005	0.0001	0.0002	2.319e-05	0.0007	0.0007	0.0007	0.0007	0.0025	0.0006	0.0006	0.0021	0.0020	0.0025	0	0.0001	0	0	0	0	4.434e-05	0	0	0.442	0.10311	T	0.54	0.10391	T	0.093	0.25333	B	0.022	0.19653	B	.	.	.	.	1	0.08975	N	1.19	0.30124	L	3.19	0.07353	T	-1.04	0.31170	N	0.02	0.01135	-0.9118	0.46632	T	0.012	0.04700	T	9	0.0037082136	0.00068	T	7.95E-4	0.00608	T	0.002	0.00045	.	.	0.148003135375	0.14442	0.013188161658614238	0.01276	0.0685110287662	0.07671	0.204187303782	0.00588	T	0.002325	0.01720	T	-0.697048	0.00038	T	-0.777402	0.02533	T	0.00132276054773285	0.00013	T	0.530647	0.17608	T	0.030325845	0.02677	0.032622144	0.02026	0.030325845	0.02677	0.032622144	0.02026	-3.855	0.25142	T	.	.	0.105	0.19998	B	.;.;.	.;.;.	0.176005	0.05641	2.093	0.79546419787824774	0.12791	0.00001	0.00044	N	AEFBHCI	0.025112	0.01664	N	-1.60466593291419	0.01241	0.053998	-1.7196225804428	0.01053	0.04727385	0.00962431979082395	0.11886	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.645665	0.59343	0	.	.	0.832	-1.66	0.07824	-1.170000	0.03227	.	.	0.313000	0.19204	0.000000	0.06391	0.000000	0.08366	0.914000	0.44937	0.0:0.2818:0.0:0.7182	6.764	0.22745	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|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2054.33	37	chr19	12350239	.	C	T	2054.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.8;DP=784;ExcessHet=0;FS=6.303;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.9;MQRankSum=1;QD=14.67;ReadPosRankSum=0.594;SOR=0.4	GT:AD:DP:GQ:PL	0/1:71,69:140:99:2068,0,1979	18	0	1	0
chr19	13934294	13934294	G	A	exonic	PODNL1	.	nonsynonymous SNV	PODNL1:NM_001146254:exon6:c.C626T:p.P209L,PODNL1:NM_001370095:exon6:c.C632T:p.P211L,PODNL1:NM_024825:exon6:c.C611T:p.P204L	.	423	1090	9	0	0	9	0.00411147	.	.	.	3463898	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.301	0.0408230760106	.	.	8.16e-05	0.0002	0	0	0	0	0.004	0.0006	2.59e-05	4	154602	rs777679884	1.661e-05	1.915e-05	1.136e-05	2.204e-05	0.0001	1.106e-05	9.24e-06	8.264e-05	6.414e-05	0	0	0	0	0	0	1.115e-05	0	0.0001	3.285e-05	3.283e-05	2.569e-05	4.035e-05	7.239e-05	1.261e-05	7.98e-06	1.92e-05	1.032e-05	7.239e-05	0	6.545e-05	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.012	0.79402	D	1.0	0.90584	D	0.999	0.92359	D	0.000391	0.44960	D	0.000000	0.999914	0.81001	D	3.19	0.88972	M	1.9	0.32238	T	-7.27	0.95455	D	0.468	0.53445	-0.2197	0.77159	T	0.294	0.66602	T	10	0.64301467	0.69166	D	0.040823	0.59591	D	0.301	0.62179	0.359	0.36222	0.515715180578	0.51213	0.5058954073958112	0.50511	0.835004575118	0.67782	0.610998153687	0.54457	T	0.129637	0.45804	T	-0.187087	0.22688	T	-0.199098	0.54732	T	0.983963668346405	0.75439	D	0.876112	0.59977	D	0.78351694	0.82870	0.81243515	0.89055	0.78351694	0.82872	0.81243515	0.89056	-13.792	0.92536	D	.	.	0.292	0.56091	B	.;.;.;.;.	.;.;.;.;.	5.033582	0.83731	28.1	0.99906746876083963	0.97726	0.95236	0.63943	D	AEFDBHCI	0.869602	0.79021	D	0.890537474875987	0.91288	10.80841	0.781644438141896	0.88487	9.601435	0.999999988990375	0.74766	0.403107	0.06075	0	0.514364	0.08380	0	0.298653	0.05632	1	0.562822	0.20929	0	.	.	5.35	5.35	0.76297	4.237000	0.58477	11.500000	0.92961	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.486000	0.28701	0.0:0.0:1.0:0.0	15.954	0.79650	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	0.001038	0.000000	0.000000	0.000000	0.000000	0.017241	0.000000	0.000000	0.02632	1071.33	35	chr19	13934294	.	G	A	1071.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.52;DP=766;ExcessHet=0;FS=4.184;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.6;ReadPosRankSum=-1.618;SOR=1.154	GT:AD:DP:GQ:PL	0/1:47,38:85:99:1085,0,1204	18	0	1	0
chr19	14055061	14055061	C	A	exonic	PALM3	.	nonsynonymous SNV	PALM3:NM_001367327:exon5:c.G413T:p.S138I,PALM3:NM_001145028:exon7:c.G611T:p.S204I	.	414	1064	40	4	0	48	0.0220588	.	.	.	716206	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.049	.	0.0107	0.00339457	0.0091	0.0047	0.0103	0	0	0.0090	0.0260	0.0113	0.0023544	364	154602	rs185854216	0.0103	0.0099	0.0102	0.0105	0.0119	0.0102	0.0101	0.0114	0.0114	0.0016	0.0039	0.0031	2.798e-05	0.0025	0.0107	0.0116	0.0099	0.0119	0.0068	0.0069	0.0075	0.0061	0.0118	0.0065	0.0063	0.0112	0.0109	0.0019	0	0.0052	0.0017	0	0.0011	0.0204	0.0118	0.0095	0.0073	0.002	0.72154	D	0.197	0.59732	T	0.076	0.24253	B	0.065	0.27321	B	0.004116	0.34102	N	0.177154	1	0.08975	N	0.69	0.16971	N	1.48	0.31731	T	-2.42	0.53096	N	0.075	0.04913	-1.0299	0.20487	T	0.028	0.12058	T	10	0.0059589446	0.00134	T	.	.	.	0.049	0.13647	.	.	0.119812018005	0.11559	0.08867927874923093	0.08800	.	.	0.354741573334	0.18618	T	0.003281	0.33640	T	-0.555945	0.00268	T	-0.560965	0.16287	T	0.0122600926185964	0.00198	T	0.657134	0.26688	T	0.16299227	0.36412	0.13598062	0.32542	0.16299227	0.36411	0.13598062	0.32541	-5.451	0.41407	T	.	.	0.098	0.16143	B	.;.	.;.	0.967823	0.13449	9.956	0.97078868628090398	0.32272	0.04107	0.09577	N	AEFDBI	0.109182	0.21694	N	-0.942614458466477	0.09859	0.4685076	-0.96274404192693	0.10628	0.5365172	7.66947260176222E-4	0.07776	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.586402	0.36253	0	.	.	4.69	1.0	0.18999	-0.263000	0.08695	0.014000	0.13486	0.469000	0.21855	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.1793:0.4251:0.3956:0.0	6.761	0.22729	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	1	0	0.014493	0.005556	0.014599	0.003759	0.071429	0.000000	0.023364	0.017544	0.07895	3451.79	39	chr19	14055061	.	C	A	3451.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.309;DP=889;ExcessHet=0.3672;FS=4.918;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=13.07;ReadPosRankSum=1.34;SOR=0.475	GT:AD:DP:GQ:PL	0/1:31,42:73:99:1172,0,868	16	0	3	0
chr19	15525356	15525356	G	A	exonic	CYP4F22	.	nonsynonymous SNV	CYP4F22:NM_173483:exon3:c.G20A:p.R7H	Ichthyosis, congenital, autosomal recessive 5, Autosomal recessive	3	1512	7	0	0	7	0.00230947	.	.	.	506582	Autosomal_recessive_congenital_ichthyosis_5|not_provided|not_specified	Gene:50992,MONDO:MONDO:0011485,MedGen:C1858133,OMIM:604777,Orphanet:313|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.053	0.00616451452715	0.0002	0.00119808	0.0011	9.696e-05	8.697e-05	0	0.0002	0.0007	0	0.0047	0.0009832	152	154602	rs202066269	0.0005	0.0005	0.0004	0.0007	0.0059	0.0005	0.0005	0.0043	0.0038	8.961e-05	0.0002	0.0055	0	3.773e-05	0.0059	0.0002	0.0011	0.0039	0.0005	0.0005	0.0005	0.0006	0.0029	0.0004	0.0004	0.0018	0.0014	0.0001	0	0.0002	0.0058	0.0002	0	0.0034	0.0004	0.0028	0.0029	0.772	0.03363	T	0.603	0.07868	T	0.0	0.02946	B	0.0	0.01387	B	0.854681	0.08938	N	0.925749	1	0.08975	N	-1.245	0.00777	N	-0.55	0.71068	T	0.91	0.01595	N	0.098	0.07949	-1.0435	0.16265	T	0.111	0.39888	T	10	0.008422613	0.00191	T	0.006165	0.16141	T	0.053	0.14996	.	.	0.0954503805726	0.09146	0.3737645901700208	0.37290	0.272406653142	0.29750	0.242505371571	0.03020	T	0.052593	0.29206	T	-0.56562	0.00235	T	-0.58577	0.14035	T	0.00914397761913591	0.00115	T	0.246475	0.03619	T	0.026918149	0.01812	0.026765816	0.00784	0.021860417	0.00811	0.024871074	0.00515	-4.54	0.31408	T	.	.	0.079	0.08417	B	.;.	.;.	-0.145441	0.03381	0.605	0.18114054731760973	0.00556	0.00261	0.01428	N	AEFDBI	0.020103	0.00760	N	-1.42723532186287	0.02402	0.106015	-1.4320626275323	0.02936	0.1360367	1.08047051158559E-4	0.05123	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.69	-1.38	0.08554	-0.462000	0.06781	.	.	-0.063000	0.16611	0.000000	0.06391	0.000000	0.08366	0.020000	0.11549	0.4314:0.1541:0.2655:0.1489	0.989	0.01360	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	0.006546	0.005051	0.004076	0.014620	0.000000	0.017241	0.003049	0.003788	0.02632	811.33	34	chr19	15525356	.	G	A	811.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.968;DP=668;ExcessHet=0;FS=1.147;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.56;ReadPosRankSum=0.631;SOR=0.95	GT:AD:DP:GQ:PL	0/1:20,29:49:99:825,0,449	18	0	1	0
chr19	17286690	17286692	GTT	0	exonic	ANKLE1	.	.	.	.	521	443	240	2	316	560	0.215929	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	1637.94	40	chr19	17286690	.	GTT	*	1637.94	.	AC=14;AF=0.368;AN=38;BaseQRankSum=1.46;DP=1151;ExcessHet=0.463;FS=1.245;InbreedingCoeff=0.1559;MLEAC=14;MLEAF=0.368;MQ=59.99;MQRankSum=0;QD=3.04;ReadPosRankSum=1.16;SOR=0.576	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:21,8:30:99:0|1:17286688_GTGTT_*:146,0,989:17286688	7	2	10	0
chr19	17286692	17286692	T	0	exonic	ANKLE1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5556	2986.13	40	chr19	17286692	.	T	*	2986.13	.	AC=20;AF=0.556;AN=36;BaseQRankSum=0;DP=1155;ExcessHet=0.5777;FS=0;InbreedingCoeff=0.0134;MLEAC=21;MLEAF=0.583;MQ=59.97;MQRankSum=0;QD=4.33;ReadPosRankSum=1.35;SOR=0.666	GT:AD:DP:GQ:PL	1/0:2,9:25:99:1210,656,689	4	6	8	1
chr19	18008421	18008421	G	T	exonic	ARRDC2	.	nonsynonymous SNV	ARRDC2:NM_001286826:exon1:c.G111T:p.E37D,ARRDC2:NM_015683:exon1:c.G111T:p.E37D	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.0341635560012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.45039	D	0.245	0.30045	T	0.008	0.14655	B	0.026	0.20792	B	0.000002	0.62929	D	0.056268	0.999998	0.81001	D	1.245	0.31408	L	2.49	0.14531	T	-2.0	0.46146	N	0.299	0.33796	-1.0658	0.10362	T	0.023	0.09968	T	10	0.26810604	0.44327	T	0.034164	0.55491	D	0.054	0.15330	0.581	0.70733	0.534814951121	0.53131	0.5088136273089309	0.50803	0.428580985127	0.43174	0.891240239143	0.95414	D	0.001602	0.01039	T	-0.203343	0.20322	T	-0.529864	0.19300	T	0.858183026313782	0.50886	D	0.70113	0.31087	T	0.31006604	0.53791	0.30500063	0.56527	0.31006604	0.53791	0.30500063	0.56527	-4.781	0.34369	T	.	.	0.362	0.57330	A	.;.	.;.	2.337153	0.29950	18.28	0.99263283895762267	0.57289	0.89329	0.49728	D	AEFDGBCIJ	0.196836	0.32379	N	-0.266231374906766	0.30461	1.698694	-0.135142978367808	0.33985	1.949903	0.999999981439604	0.74766	0.40479	0.06251	1	0.516746	0.08562	0	0.503968	0.08637	0	0.404113	0.06833	1	.	.	3.65	3.65	0.40985	0.152000	0.16120	4.691000	0.44365	0.578000	0.29377	0.303000	0.25352	1.000000	0.68203	0.740000	0.35438	0.1047:0.0:0.8953:0.0	8.841	0.34303	964	0.07719	Arrestin-like, N-terminal;Arrestin-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	.	.	.	.	.	.	.	.	0.02632	724.33	33	chr19	18008421	.	G	T	724.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.839;DP=733;ExcessHet=0;FS=6.995;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.68;ReadPosRankSum=0.771;SOR=1.609	GT:AD:DP:GQ:PL	0/1:34,28:62:99:738,0,867	18	0	1	0
chr19	18572956	18572956	A	-	exonic	UBA52	.	frameshift deletion	UBA52:NM_001321021:exon1:c.9delA:p.K4Rfs*9	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.015e-06	6.84e-07	0	2.142e-06	0.0005	0	0	.	.	0	0	0	0	0	0.0005	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1797.29	35	chr19	18572955	.	CA	C	1797.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.766;DP=758;ExcessHet=0;FS=3.324;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.73;ReadPosRankSum=1.66;SOR=0.421	GT:AD:DP:GQ:PL	0/1:61,61:122:99:1811,0,1803	18	0	1	0
chr19	18919802	18919802	G	A	exonic	DDX49	.	nonsynonymous SNV	DDX49:NM_019070:exon1:c.G61A:p.G21S	.	429	1079	14	0	0	14	0.00644567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.339	.	0.0065	0.00179712	0.0068	0.0026	0.0050	0.0001	0.0049	0.0103	0.0057	0.0016	0.0062095	960	154602	rs139869066	0.0080	0.0080	0.0082	0.0078	0.0111	0.0079	0.0078	0.0089	0.0085	0.0015	0.0063	0.0279	2.521e-05	0.0046	0.0111	0.0087	0.0087	0.0016	0.0067	0.0067	0.0070	0.0065	0.0094	0.0064	0.0063	0.0088	0.0086	0.0020	0.0241	0.0084	0.0216	0	0.0042	0	0.0094	0.0090	0.0023	0.025	0.47320	D	0.04	0.60337	D	0.852	0.47012	P	0.414	0.44907	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.84	0.48285	L	1.51	0.30937	T	-4.68	0.79659	D	0.587	0.60749	-1.0819	0.06984	T	0.064	0.26385	T	10	0.008049309	0.00183	T	.	.	.	0.339	0.66106	.	.	0.541875726618	0.53840	0.823232274964152	0.82280	0.924360987109	0.71577	0.65067076683	0.60080	T	0.261293	0.63276	T	-0.269055	0.11863	T	-0.14986	0.59255	T	0.0315823287565548	0.02239	T	0.958804	0.84482	D	0.7750597	0.82352	0.7672163	0.86251	0.7750597	0.82353	0.7672163	0.86252	-6.256	0.48373	T	.	.	0.333	0.55459	B	.;.	.;.	4.300879	0.65672	24.9	0.99807282849827272	0.89174	0.98114	0.79716	D	AEFGBHCIJ	0.939040	0.93908	D	0.53583956024557	0.69225	5.326782	0.612684411253711	0.75862	6.385913	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	5.48	5.48	0.80675	8.682000	0.90955	11.688000	0.94314	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	17.890	0.88784	940	0.13648	RNA helicase, DEAD-box type, Q motif|Helicase superfamily 1/2, ATP-binding domain;RNA helicase, DEAD-box type, Q motif	ATP13A1	Adipose_Visceral_Omentum	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007553	0.015152	0.008152	0.008772	0.000000	0.008621	0.012195	0.003788	0.05263	2491.83	37	chr19	18919802	.	G	A	2491.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.766;DP=809;ExcessHet=0.119;FS=0.539;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.4;ReadPosRankSum=-0.162;SOR=0.773	GT:AD:DP:GQ:PL	0/1:39,57:96:99:1498,0,931	17	0	2	0
chr19	20624371	20624371	G	0	exonic	ZNF626	.	.	.	.	798	89	186	378	71	1013	0.841071	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3125	30912.4	64	chr19	20624371	.	G	*	30912.4	.	AC=10;AF=0.313;AN=32;BaseQRankSum=1.9;DP=1614;ExcessHet=0.9163;FS=1.409;InbreedingCoeff=0.1244;MLEAC=11;MLEAF=0.344;MQ=58.38;MQRankSum=-2.592;QD=22.29;ReadPosRankSum=2.61;SOR=0.822	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,91:91:99:1|1:20624327_GGCTTTGCCACATTCTTCACATTTGTAGAATTTCTCTCCAGTATGATTCTCTCATGTGTAGTAAGGATTGAGGACTGGTTGAAGGCTTTGCCACATTCTTCACATTTGTAGGGTCTCTCTCCAGTATGAATTTTCTTATGTGTAGTAAGGTTAGAGGAGCACTTAAAA_G:2049,196,0:20624327	11	5	0	3
chr19	20624379	20624379	C	0	exonic	ZNF626	.	.	.	.	805	84	185	376	72	1009	0.847964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3125	29655.5	64	chr19	20624379	.	C	*	29655.5	.	AC=10;AF=0.313;AN=32;BaseQRankSum=2.05;DP=1564;ExcessHet=0.9163;FS=1.397;InbreedingCoeff=0.1244;MLEAC=11;MLEAF=0.344;MQ=58.21;MQRankSum=-2.479;QD=21.43;ReadPosRankSum=0.295;SOR=0.852	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,91:91:99:1|1:20624327_GGCTTTGCCACATTCTTCACATTTGTAGAATTTCTCTCCAGTATGATTCTCTCATGTGTAGTAAGGATTGAGGACTGGTTGAAGGCTTTGCCACATTCTTCACATTTGTAGGGTCTCTCTCCAGTATGAATTTTCTTATGTGTAGTAAGGTTAGAGGAGCACTTAAAA_G:2049,196,0:20624327	11	5	0	3
chr19	21056681	21056681	G	T	exonic	ZNF430	.	nonsynonymous SNV	ZNF430:NM_001172671:exon5:c.G370T:p.D124Y,ZNF430:NM_025189:exon5:c.G373T:p.D125Y	.	0	224	2	0	0	2	0.00444444	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	.	0.0042	0.00299521	0.0038	0.0013	0.0034	0	0.0038	0.0053	0.0036	0.0007	0.003771	583	154602	rs139084188	0.0054	0.0054	0.0054	0.0053	0.0064	0.0053	0.0053	0.0063	0.0062	0.0010	0.0038	0.0005	0	0.0036	0.0009	0.0064	0.0049	0.0005	0.0040	0.0040	0.0041	0.0039	0.0069	0.0037	0.0036	0.0059	0.0055	0.0012	0.0011	0.0069	0.0003	0	0.0033	0	0.0060	0.0043	0.0008	0.046	0.40573	D	0.043	0.49942	D	0.011	0.15914	B	0.049	0.25116	B	.	.	.	.	1	0.08975	N	2.38	0.68558	M	3.43	0.05440	T	-7.25	0.94352	D	0.153	0.15749	-1.0867	0.06102	T	0.021	0.08963	T	8	0.0061469376	0.00138	T	.	.	.	0.034	0.08419	.	.	0.0920862733494	0.08535	0.26688770186856137	0.26601	0.179672211306	0.20209	0.270857602358	0.06253	T	0.080877	0.36467	T	-0.630569	0.00095	T	-0.672995	0.07417	T	0.085759041803042	0.10707	T	0.19528	0.02139	T	0.3808528	0.59378	0.43824244	0.67216	0.3808528	0.59378	0.43824244	0.67217	-6.158	0.47582	T	.	.	0.075	0.05711	B	.	.	1.164132	0.15534	11.92	0.9439635856665316	0.24781	0.00779	0.03201	N	AEFBI	0.021222	0.00923	N	-0.934990103796658	0.10032	0.4774966	-1.22127088210481	0.05569	0.2657196	1.09365210804089E-5	0.01202	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	0.628	-1.26	0.08892	-0.204000	0.09426	.	.	-0.257000	0.07002	0.000000	0.06391	0.000000	0.08366	0.060000	0.15972	.	.	.	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	0.002016	0.010101	0.001359	0.000000	0.000000	0.008621	0.003067	0.003788	0.02632	1211.33	34	chr19	21056681	.	G	T	1211.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.008;DP=761;ExcessHet=0;FS=1.498;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.69;ReadPosRankSum=-0.878;SOR=0.539	GT:AD:DP:GQ:PL	0/1:76,49:125:99:1225,0,2054	18	0	1	0
chr19	21424743	21424743	A	G	exonic	ZNF493	.	nonsynonymous SNV	ZNF493:NM_175910:exon2:c.A1700G:p.Y567C,ZNF493:NM_001076678:exon4:c.A2084G:p.Y695C	.	415	1104	3	0	0	3	0.00135685	.	.	.	3350641	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.022	0.00132440839735	0.0004	0.000199681	0.0003	0	0.0009	0	0	0.0003	0.0011	0	0.0002393	37	154602	rs185810129	0.0003	0.0003	0.0003	0.0002	0.0017	0.0002	0.0002	0.0009	0.0007	2.991e-05	0.0007	0	0	0	0.0017	0.0003	0.0002	1.16e-05	0.0002	0.0002	0.0003	0.0002	0.0007	0.0002	0.0002	0.0004	0.0003	9.643e-05	0	0.0007	0	0	0	0.0034	0.0003	0.0014	0	0.185	0.22138	T	0.19	0.30631	T	0.939	0.52645	P	0.534	0.48679	P	.	.	.	.	1	0.08975	N	-0.12	0.04575	N	2.19	0.18724	T	-0.89	0.24026	N	0.173	0.18512	-1.0553	0.12961	T	0.033	0.14029	T	9	0.020548075	0.00476	T	0.001324	0.01860	T	0.022	0.04323	.	.	0.471778926243	0.46806	0.006535967063871958	0.00621	0.0639729178605	0.07127	0.323343038559	0.13926	T	0.016546	0.13654	T	-0.557223	0.00264	T	-0.665925	0.07872	T	0.0322765564876581	0.02350	T	0.225777	0.02969	T	0.0687059	0.14991	0.05704895	0.10303	0.0687059	0.14991	0.05704895	0.10303	-5.576	0.42573	T	.	.	0.095	0.17573	B	.;.	.;.	1.199173	0.15912	12.19	0.15068419058079693	0.00355	0.00895	0.03516	N	AEFBCI	0.024842	0.01604	N	-0.919584859721539	0.10384	0.495975	-1.06857414501489	0.08324	0.4088005	1.05490704848131E-5	0.01202	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	1.14	1.14	0.19817	-1.498000	0.02392	.	.	0.363000	0.20128	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.7807:0.0:0.2193:0.0	4.267	0.10218	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	0.000529	0.000000	0.000000	0.000000	0.000000	0.000000	0.003067	0.000000	0.02632	1846.33	36	chr19	21424743	.	A	G	1846.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.25;DP=1083;ExcessHet=0;FS=1.482;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.06;ReadPosRankSum=0.017;SOR=0.848	GT:AD:DP:GQ:PL	0/1:54,61:115:99:1860,0,1521	18	0	1	0
chr19	33212889	33212889	G	C	exonic	SLC7A10	.	nonsynonymous SNV	SLC7A10:NM_019849:exon3:c.C470G:p.P157R	.	409	1108	5	0	0	5	0.00225124	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.834	0.197610943606	.	.	1.668e-05	0	0	0	0	1.515e-05	0	6.086e-05	1.29e-05	2	154602	rs770544805	9.577e-06	9.577e-06	8.167e-06	1.1e-05	4.637e-05	5.56e-06	4.35e-06	1.583e-05	9.3e-06	0	0	0	0	0	0	8.993e-06	0	4.637e-05	6.569e-06	6.566e-06	1.284e-05	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.365	0.91266	M	-2.5	0.89219	D	-8.77	0.97742	D	0.894	0.89353	0.894	0.95594	D	0.836	0.94503	D	10	0.9651139	0.95979	D	0.197611	0.86547	D	0.834	0.94765	0.724	0.85850	0.955352881115	0.95488	0.841819425768244	0.84141	1.20388962658	0.80625	0.608378946781	0.54087	T	0.824741	0.95752	D	0.364	0.87554	D	0.381939	0.91500	D	0.997055649757385	0.90665	D	0.882912	0.60466	D	0.8612521	0.88182	0.8157319	0.89266	0.8612521	0.88183	0.8157319	0.89266	-12.796	0.88505	D	.	.	0.602	0.68966	P	.	.	4.301296	0.65672	24.9	0.99798811488470973	0.88372	0.99731	0.99037	D	AEFDBI	0.942127	0.94631	D	0.690675838724763	0.79022	6.990643	0.556326537904384	0.71840	5.716355	0.999999999548795	0.74766	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.34	4.34	0.51267	8.097000	0.89373	11.833000	0.97585	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.206000	0.22070	0.0:0.0:1.0:0.0	15.831	0.78526	557	0.71576	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1303.33	41	chr19	33212889	.	G	C	1303.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.846;DP=824;ExcessHet=0;FS=0.659;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.26;ReadPosRankSum=0.208;SOR=0.796	GT:AD:DP:GQ:PL	0/1:68,59:127:99:1317,0,1713	18	0	1	0
chr19	34684172	34684203	AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	-	exonic	ZNF302	.	nonframeshift deletion	ZNF302:NM_001289188:exon5:c.398_429del:p.*133*,ZNF302:NM_001289189:exon5:c.398_429del:p.*133*,ZNF302:NM_001289190:exon5:c.395_426del:p.*132*,ZNF302:NM_001289191:exon5:c.395_426del:p.*132*,ZNF302:NM_001289192:exon5:c.395_426del:p.*132*,ZNF302:NM_018675:exon5:c.395_426del:p.*132*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0131	0.0172	0.0043	0.0608	0.0093	0.0093	0.0191	0.0141	0.0001153	3	26028	rs757903161	0.0076	0.0056	0.0071	0.0082	0.0717	0.0075	0.0074	0.0680	0.0665	0.0188	0.0038	0.0058	0.0717	0.0058	0.0112	0.0049	0.0125	0.0214	0.0113	0.0066	0.0102	0.0127	0.1199	0.0103	0.0100	0.1041	0.0981	0.0059	0	0.0138	0.0013	0.1199	0.0027	0	0.0052	0.0182	0.0327	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	1627.07	.	chr19	34684171	.	TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T	1627.07	.	AC=2;AF=0.125;AN=16;BaseQRankSum=1.65;DP=266;ExcessHet=0;FS=0;InbreedingCoeff=0.28;MLEAC=4;MLEAF=0.25;MQ=60;MQRankSum=0;QD=33.21;ReadPosRankSum=0.715;SOR=0.848	GT:AD:DP:GQ:PL	1/0:2,7:30:63:1084,400,391	6	0	2	11
chr19	35039667	35039667	A	T	exonic	SCN1B	.	nonsynonymous SNV	SCN1B:NM_001037:exon5:c.A623T:p.K208I,SCN1B:NM_001321605:exon5:c.A524T:p.K175I	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	1519	3	0	0	3	0.000986518	.	.	.	469648	SCN1B-related_disorder|Brugada_syndrome_5|Cardiovascular_phenotype	.|MONDO:MONDO:0013015,MedGen:C2748541,OMIM:612838,Orphanet:130,Orphanet:871|MedGen:CN230736	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.873	0.763920738291	.	.	2.474e-05	0	8.658e-05	0	0	1.5e-05	0.0011	0	1.94e-05	3	154602	rs780958012	1.231e-05	1.231e-05	1.089e-05	1.375e-05	3.478e-05	7.7e-06	6.35e-06	9.24e-06	4.56e-06	0	2.236e-05	0	0	0	0	1.079e-05	3.311e-05	3.478e-05	1.971e-05	1.97e-05	2.57e-05	1.345e-05	6.54e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	6.54e-05	0	0	0	0	2.94e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	0.998	0.73220	D	0.987	0.77487	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	2.325	0.66631	M	-5.52	0.99165	D	-5.02	0.82511	D	0.712	0.71498	1.099	0.99623	D	0.967	0.98941	D	10	0.8525318	0.84436	D	0.763921	0.98128	D	0.873	0.96207	0.236	0.16608	0.994106168766	0.99404	.	.	.	.	.	.	.	0.575322	0.86006	D	0.166846	0.70834	D	0.183414	0.82191	D	0.973451256752014	0.70103	D	0.950105	0.82627	D	0.73405915	0.79954	0.5642824	0.74783	0.8289049	0.85828	0.6332163	0.78596	-6.845	0.52893	T	.	.	0.986	0.93267	P	.;.;.;.	.;.;.;.	5.416669	0.90641	31	0.99518361105522901	0.69100	0.97832	0.77462	D	AEFDBCI	0.932273	0.92238	D	0.752612657934995	0.83076	7.923259	0.709238551080616	0.83078	7.928864	0.999999999708013	0.74766	0.706298	0.61202	0	0.626922	0.53725	0	0.584781	0.30282	0	0.613276	0.41899	0	.	.	4.95	4.95	0.64894	8.346000	0.89964	11.081000	0.85750	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	11.015	0.46901	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	.	.	.	.	.	.	.	.	0.02632	1826.33	35	chr19	35039667	.	A	T	1826.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.491;DP=851;ExcessHet=0;FS=1.858;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.26;ReadPosRankSum=-0.694;SOR=0.547	GT:AD:DP:GQ:PL	0/1:94,84:178:99:1840,0,2476	18	0	1	0
chr19	35131987	35131987	G	A	exonic	LGI4	.	nonsynonymous SNV	LGI4:NM_139284:exon4:c.C370T:p.R124C	.	425	1095	2	0	0	2	0.000912409	.	.	.	3452783	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.290	0.264991910507	7.7e-05	.	0.0002	0	0.0011	0	0	0.0003	0	0	7.76e-05	12	154602	rs144343503	3.689e-05	4.309e-05	4.002e-05	3.371e-05	0.0002	2.878e-05	2.61e-05	7.975e-05	5.641e-05	0	0.0002	0	0	0	0	3.457e-05	0.0001	0	1.315e-05	1.313e-05	1.286e-05	1.346e-05	2.417e-05	2.19e-06	8.2e-07	.	.	2.417e-05	0	0	0	0	0	0	1.471e-05	0	0	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.912	0.75477	D	0.005197	0.33015	N	0.121454	0.956287	0.81001	D	1.695	0.43389	L	0.37	0.57729	T	-4.99	0.84811	D	0.399	0.53006	-0.4393	0.70753	T	0.286	0.65753	T	10	0.27918503	0.45490	T	0.264992	0.89657	D	0.290	0.60924	.	.	0.782319092378	0.78031	0.5570776603442104	0.55634	1.10600927225	0.77897	0.626669943333	0.56672	T	0.523841	0.83397	D	0.00226009	0.51966	T	-0.23453	0.51332	T	0.522031164816592	0.33440	D	0.959004	0.93547	D	0.3401699	0.56293	0.3342145	0.59249	0.3401699	0.56294	0.3342145	0.59248	-10.101	0.74514	D	0.2741140177909693	0.36827	0.428	0.63205	A	.;.;.	.;.;.	5.937480	0.94120	33	0.99916451938608886	0.98449	0.93609	0.58687	D	AEFBI	0.521358	0.54583	D	0.403383858660083	0.61608	4.364238	0.306976894255624	0.55947	3.757777	0.999656488843586	0.41424	0.695654	0.57023	0	0.573888	0.26702	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	4.19	3.03	0.34070	2.460000	0.44689	9.382000	0.80522	0.604000	0.46097	0.986000	0.36153	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.7033:0.2967	10.105	0.41703	917	0.20147	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1914.33	41	chr19	35131987	.	G	A	1914.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.56;DP=882;ExcessHet=0;FS=2.035;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.59;ReadPosRankSum=-0.622;SOR=0.516	GT:AD:DP:GQ:PL	0/1:80,72:152:99:1928,0,2089	18	0	1	0
chr19	35299590	35299590	C	T	exonic	MAG	.	nonsynonymous SNV	MAG:NM_001199216:exon5:c.C377T:p.A126V,MAG:NM_002361:exon5:c.C452T:p.A151V,MAG:NM_080600:exon5:c.C452T:p.A151V	Spastic paraplegia 75, autosomal recessive, Autosomal recessive	424	1080	18	0	0	18	0.00826446	.	.	.	411594	Hereditary_spastic_paraplegia_75|Hereditary_spastic_paraplegia|not_provided|MAG-related_disorder	MONDO:MONDO:0014729,MedGen:C4225250,OMIM:616680,Orphanet:459056|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.370	0.317900383162	0.0037	0.00239617	0.0044	0.0016	0.0022	0.0001	0.0011	0.0058	0.0061	0.0060	0.0042173	652	154602	rs144553163	0.0054	0.0055	0.0053	0.0055	0.0063	0.0053	0.0053	0.0062	0.0062	0.0011	0.0019	0.0003	0	0.0010	0.0049	0.0063	0.0042	0.0051	0.0040	0.0040	0.0043	0.0036	0.0070	0.0037	0.0036	0.0065	0.0063	0.0014	0	0.0022	0.0003	0	0.0008	0.0034	0.0070	0.0005	0.0048	0.071	0.39575	T	0.101	0.38596	T	0.98	0.59353	D	0.782	0.57384	P	0.000053	0.53742	D	0.163867	0.784419	0.36625	D	1.355	0.33814	L	3.78	0.76037	T	-1.62	0.38924	N	0.123	0.11483	-0.5098	0.68294	T	0.274	0.64598	T	10	0.009121209	0.00206	T	0.318	0.91385	D	0.370	0.68930	.	.	0.64536359344	0.64243	0.5643018623974551	0.56357	0.478096384883	0.46899	0.549512326717	0.45789	T	0.285052	0.65784	T	-0.329821	0.06126	T	-0.241976	0.50606	T	0.0173554213605452	0.00474	T	0.805919	0.45429	T	0.21897237	0.44417	0.21848269	0.46553	0.24647926	0.47617	0.209051	0.45232	-6.183	0.48991	T	0.1177093208259177	0.10783	0.160	0.45871	B	.;.;.;.;.	.;.;.;.;.	3.563521	0.50150	22.9	0.99918718692552411	0.98586	0.49487	0.28444	N	AEFDBCI	0.195368	0.32240	N	0.0741978033257675	0.45262	2.785641	0.0888800289740042	0.43988	2.689319	0.999999340276584	0.74766	0.581397	0.33459	0	0.78372	0.99691	0	0.61531	0.40942	0	0.613276	0.41899	0	.	.	4.57	4.57	0.55860	2.345000	0.43675	2.654000	0.33835	0.533000	0.24879	0.991000	0.37257	0.984000	0.30665	0.986000	0.61781	0.0:1.0:0.0:0.0	14.866	0.70049	923	0.18507	.;CD80-like, immunoglobulin C2-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	0.005051	0.000000	0.004076	0.002924	0.000000	0.008621	0.000000	0.011450	0.02632	647.33	33	chr19	35299590	.	C	T	647.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.07;DP=682;ExcessHet=0;FS=1.252;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.6;ReadPosRankSum=-0.155;SOR=0.941	GT:AD:DP:GQ:PL	0/1:18,21:39:99:661,0,446	18	0	1	0
chr19	35341070	35341070	C	A	exonic	CD22	.	nonsynonymous SNV	CD22:NM_001185101:exon5:c.C908A:p.T303K,CD22:NM_001185099:exon6:c.C1175A:p.T392K,CD22:NM_001278417:exon6:c.C923A:p.T308K,CD22:NM_001185100:exon7:c.C1439A:p.T480K,CD22:NM_001771:exon7:c.C1439A:p.T480K	.	424	1095	3	0	0	3	0.00136799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.261	0.023048202532	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1454012779	2.052e-06	2.052e-06	2.722e-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	6.57e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.946	0.02166	T	1.0	0.02411	T	0.011	0.15914	B	0.009	0.14300	B	0.000491	0.00618	N	3.336540	1	0.08975	N	-0.115	0.04602	N	-2.0	0.85393	D	1.36	0.00878	N	0.176	0.18920	-0.7125	0.59830	T	0.256	0.62631	T	10	0.07350466	0.11114	T	0.023048	0.45988	T	0.261	0.57352	0.562	0.68229	0.442261297928	0.43845	0.7702111206997294	0.76970	0.156283666226	0.17638	0.261150926352	0.05028	T	0.17484	0.52420	T	-0.124817	0.32338	T	-0.417068	0.31413	T	0.0455974090259878	0.04710	T	0.371363	0.09517	T	0.032038875	0.03153	0.036154017	0.03006	0.032038875	0.03153	0.036154017	0.03006	-3.318	0.29517	T	.	.	0.079	0.11941	B	.;.;.;.;.;.	.;.;.;.;.;.	-2.248827	0.00057	0.001	0.61157523193485408	0.06639	0.01186	0.04246	N	AEFBHCI	0.066771	0.13093	N	-2.15822050806373	0.00095	0.004066634	-2.27522555824563	0.00075	0.003315268	0.99999999977623	0.74766	0.631515	0.41029	0	0.697927	0.68747	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.4	-10.8	0.00171	-3.956000	0.00367	-5.481000	0.01703	-0.763000	0.03499	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4092:0.1186:0.3455:0.1268	3.575	0.07483	917	0.20147	.;.;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	.	.	.	.	.	.	.	.	0.02632	2336.33	33	chr19	35341070	.	C	A	2336.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.625;DP=819;ExcessHet=0;FS=0.55;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.91;ReadPosRankSum=-0.38;SOR=0.765	GT:AD:DP:GQ:PL	0/1:91,90:181:99:2350,0,2453	18	0	1	0
chr19	36638679	36638681	GGA	-	exonic	ZNF461	.	nonframeshift deletion	ZNF461:NM_001297623:exon5:c.1595_1597del:p.L532del,ZNF461:NM_001322826:exon5:c.1502_1504del:p.L501del,ZNF461:NM_001322827:exon5:c.1502_1504del:p.L501del,ZNF461:NM_001322821:exon6:c.1646_1648del:p.L549del,ZNF461:NM_001322823:exon6:c.1571_1573del:p.L524del,ZNF461:NM_001322825:exon6:c.1571_1573del:p.L524del,ZNF461:NM_001322828:exon6:c.1400_1402del:p.L467del,ZNF461:NM_153257:exon6:c.1664_1666del:p.L555del	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.0155751	0.0127	0.0023	0.0961	0.0246	0	0.0002	0.0129	0.0159	0.0028047	73	26028	rs200326538	0.0035	0.0035	0.0036	0.0034	0.0687	0.0034	0.0034	0.0667	0.0658	0.0008	0.0687	0	0.0150	0	0.0003	4.233e-05	0.0050	0.0125	0.0055	0.0055	0.0045	0.0064	0.0368	0.0051	0.0050	0.0343	0.0333	0.0017	0	0.0368	0	0.0204	0	0	0.0001	0.0043	0.0157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005056	0.010101	0.000000	0.002924	0.000000	0.000000	0.003106	0.011364	0.05263	3180.79	33	chr19	36638678	.	GGGA	G	3180.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.034;DP=734;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=20.79;ReadPosRankSum=-0.272;SOR=0.637	GT:AD:DP:GQ:PL	0/1:38,29:67:99:1085,0,1478	17	0	2	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	0.1053	3775.43	35	chr19	36720655	.	T	C	3775.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=0.645;DP=869;ExcessHet=0.7564;FS=2.009;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=-0.792;SOR=0.845	GT:AD:DP:GQ:PL	0/1:37,29:66:99:717,0,1048	15	0	4	0
chr19	36819777	36819777	C	A	exonic	ZNF790	.	nonsynonymous SNV	ZNF790:NM_001242800:exon5:c.G567T:p.Q189H,ZNF790:NM_001242801:exon5:c.G567T:p.Q189H,ZNF790:NM_001242802:exon5:c.G567T:p.Q189H,ZNF790:NM_206894:exon5:c.G567T:p.Q189H	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	.	0.0009	0.0133786	0.0111	0.0018	0.0876	0.0215	0	0.0002	0.0111	0.0065	0.0104656	1618	154602	rs34051375	0.0032	0.0033	0.0036	0.0029	0.0757	0.0032	0.0031	0.0735	0.0727	0.0006	0.0757	0	0.0145	0	0.0002	4.049e-05	0.0044	0.0053	0.0053	0.0053	0.0046	0.0060	0.0384	0.0050	0.0048	0.0359	0.0349	0.0015	0	0.0384	0	0.0202	0	0	8.818e-05	0.0047	0.0062	0.037	0.43085	D	0.049	0.48336	D	0.964	0.55854	D	0.202	0.36942	B	.	.	.	.	1	0.08975	N	2.015	0.55033	M	2.3	0.16953	T	-3.48	0.67941	D	0.146	0.17553	-1.0331	0.19459	T	0.008	0.02679	T	9	0.0026456714	0.00041	T	.	.	.	0.028	0.06331	0.347	0.34274	.	.	0.08673104919060332	0.08607	0.0473535567413	0.05163	0.210014641285	0.00812	T	0.039939	0.25359	T	-0.625952	0.00101	T	-0.611064	0.11899	T	0.0416246642562432	0.03985	T	0.337066	0.07215	T	0.09006448	0.21064	0.08874033	0.20708	0.09006448	0.21064	0.08874033	0.20708	-4.818	0.34800	T	.	.	0.107	0.19958	B	.;.;.;.	.;.;.;.	-0.346841	0.02419	0.272	0.95400213916603982	0.26850	0.00391	0.01965	N	AEFGBHCI	0.050771	0.08905	N	-0.553404838522101	0.20376	1.073746	-0.727600667751596	0.16275	0.8601756	0.00117183169901433	0.08304	0.651	0.46895	0	0.708844	0.79440	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	3.17	0.952	0.18708	-0.104000	0.10893	.	.	-0.820000	0.02968	0.000000	0.06391	0.000000	0.08366	0.130000	0.19568	0.0:0.5239:0.0:0.4761	5.834	0.17854	588	0.69043	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.000000	0.02632	2250.33	35	chr19	36819777	.	C	A	2250.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.6;DP=880;ExcessHet=0;FS=6.227;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.03;ReadPosRankSum=-0.316;SOR=0.434	GT:AD:DP:GQ:PL	0/1:102,85:187:99:2264,0,2750	18	0	1	0
chr19	37565540	37565543	GTAA	-	exonic	ZNF571	.	frameshift deletion	ZNF571:NM_001321272:exon4:c.885_888del:p.Y296Ifs*54,ZNF571:NM_016536:exon4:c.885_888del:p.Y296Ifs*54,ZNF571:NM_001290314:exon5:c.885_888del:p.Y296Ifs*54	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.964e-05	0	8.729e-05	0	0	0	0	0.0003	3.88e-05	6	154602	rs772841881	1.984e-05	1.984e-05	1.361e-05	2.613e-05	0.0002	1.392e-05	1.204e-05	0.0001	0.0001	0	0	0	0	0	0	8.094e-06	4.969e-05	0.0002	2.634e-05	2.629e-05	2.574e-05	2.697e-05	0.0004	8.16e-06	5.15e-06	7.312e-05	3.037e-05	0	0	0	0	0	0	0	2.942e-05	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000509	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1205.29	35	chr19	37565539	.	GGTAA	G	1205.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.326;DP=951;ExcessHet=0;FS=4.709;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.98;ReadPosRankSum=0.91;SOR=1.257	GT:AD:DP:GQ:PL	0/1:39,32:71:99:1219,0,1536	18	0	1	0
chr19	37885345	37885345	G	A	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.C8326T:p.R2776W,WDR87:NM_031951:exon6:c.C8209T:p.R2737W	.	.	.	.	.	.	.	.	.	.	.	1239030	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.151	.	.	0.0245607	0.0063	0.0022	0.0396	0.0654	0	0.0001	0.0174	0.0082	0.0030595	473	154602	rs117520417	0.0040	0.0039	0.0042	0.0039	0.0696	0.0040	0.0039	0.0673	0.0664	0.0008	0.0696	0	0.0576	0	0	6.766e-05	0.0071	0.0076	0.0070	0.0070	0.0062	0.0080	0.0689	0.0067	0.0065	0.0631	0.0607	0.0017	0	0.0372	0	0.0689	0	0	0.0001	0.0109	0.0091	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.989	0.78396	D	.	.	.	.	0.858376	0.28393	N	.	.	.	0.93	0.44065	T	-3.94	0.73378	D	0.478	0.51315	-1.1108	0.03002	T	0.017	0.06855	T	9	0.0028811097	0.00046	T	.	.	.	0.151	0.39764	.	.	.	.	0.2841956475103223	0.28332	.	.	0.392634630203	0.24040	T	.	.	.	-0.46815	0.00873	T	-0.384393	0.35207	T	0.0507914978096562	0.05639	T	0.720728	0.33361	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.41783	B	.;.	.;.	4.485774	0.70031	25.5	0.96955808771800434	0.31755	0.62522	0.31807	D	AEFGBCI	0.318396	0.42211	N	0.410487341846021	0.61998	4.408828	0.394013127577303	0.61194	4.316279	0.0110701759682301	0.12125	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.86	3.83	0.43287	0.992000	0.29268	.	.	0.676000	0.76740	0.994000	0.38300	0.995000	0.32472	0.990000	0.65344	0.1039:0.0:0.8961:0.0	8.410	0.31801	646	0.63441	.;.	.	.	.	.	.	Likely benign	0	0	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	0.001196	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2289.33	79	chr19	37885345	.	G	A	2289.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.95;DP=1948;ExcessHet=0;FS=1.153;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=1.15;SOR=0.788	GT:AD:DP:GQ:PL	0/1:96,85:181:99:2303,0,2364	18	0	1	0
chr19	37889059	37889059	C	A	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.G4612T:p.A1538S,WDR87:NM_031951:exon6:c.G4495T:p.A1499S	.	.	.	.	.	.	.	.	.	.	.	1168430	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.013	.	0.0013	0.024361	0.0056	0.0017	0.0381	0.0649	0	0.0002	0.0157	0.0077	0.0030401	470	154602	rs117923468	0.0040	0.0038	0.0042	0.0039	0.0697	0.0039	0.0039	0.0674	0.0664	0.0008	0.0697	0	0.0576	0	0	6.116e-05	0.0070	0.0073	0.0070	0.0070	0.0061	0.0080	0.0687	0.0067	0.0065	0.0628	0.0605	0.0017	0	0.0372	0	0.0687	0	0.0034	0.0001	0.0109	0.0087	0.194	0.20835	T	0.131	0.34596	T	0.118	0.26577	B	0.025	0.20508	B	.	.	.	.	1	0.08975	N	.	.	.	0.85	0.47130	T	0.22	0.04694	N	0.036	0.01068	-1.0781	0.07721	T	0.006	0.02131	T	9	0.0026799738	0.00041	T	.	.	.	0.013	0.01715	.	.	.	.	0.14072687596123543	0.13995	.	.	0.179036736488	0.00085	T	.	.	.	-0.718824	0.00028	T	-0.745304	0.03672	T	0.00154021766476613	0.00016	T	0.446455	0.12522	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.17317	B	.;.	.;.	0.360647	0.07334	3.948	0.65942672752719744	0.07916	0.16607	0.19467	N	AEFGBI	0.065632	0.12813	N	-1.08438278733977	0.06930	0.3204538	-1.10941378194507	0.07519	0.3660862	0.0161617039132125	0.12799	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	2.85	0.46	0.15895	0.396000	0.20592	.	.	-0.187000	0.09635	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.6157:0.3843:0.0	10.317	0.42925	646	0.63441	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	2933.33	45	chr19	37889059	.	C	A	2933.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.59;DP=1184;ExcessHet=0;FS=5.851;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.45;ReadPosRankSum=-0.302;SOR=0.624	GT:AD:DP:GQ:PL	0/1:93,110:203:99:2947,0,2611	18	0	1	0
chr19	38815889	38815889	C	T	exonic	ECH1	.	nonsynonymous SNV	ECH1:NM_001398:exon9:c.G850A:p.D284N	.	426	1062	32	2	0	36	0.0166667	.	.	.	549788	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.184	.	0.0007	0.0439297	0.0217	0.0015	0.0138	0.1011	0.0108	0.0010	0.0111	0.0872	0.0196634	3040	154602	rs58750431	0.0088	0.0088	0.0069	0.0108	0.0926	0.0087	0.0087	0.0902	0.0891	0.0005	0.0126	0.0042	0.0926	0.0111	0.0066	0.0003	0.0128	0.0790	0.0086	0.0086	0.0065	0.0109	0.1036	0.0082	0.0081	0.0963	0.0934	0.0008	0	0.0086	0.0026	0.1036	0.0105	0	0.0006	0.0080	0.0901	0.052	0.39097	T	0.043	0.49942	D	0.58	0.38813	P	0.232	0.38314	B	0.000557	0.43413	N	0.224693	0.995888	0.42905	D	1.96	0.53105	M	-0.34	0.68474	T	-3.92	0.73151	D	0.127	0.12055	-1.0969	0.04487	T	0.016	0.06425	T	10	0.003258437	0.00056	T	.	.	.	0.184	0.45763	.	.	.	.	0.5948108593860878	0.59411	0.210675352167	0.23564	.	.	.	0.126685	0.45322	T	-0.608825	0.00129	T	-0.560458	0.16333	T	0.0442205592395221	0.04461	T	.	.	.	0.0875064	0.20380	0.08958698	0.20957	0.0875064	0.20379	0.08958698	0.20957	-7.382	0.56778	T	.	.	0.113	0.22464	B	.	.	1.427526	0.18454	13.74	0.99155882767163839	0.53959	0.76974	0.37797	D	AEFDBHCI	0.564811	0.57144	D	-0.363951650050263	0.26763	1.463097	-0.386532372428914	0.25398	1.396471	0.934234573778894	0.27162	0.706548	0.73137	0	0.702456	0.74545	0	0.570548	0.19454	0	0.714379	0.83352	0	.	.	4.85	1.52	0.22158	2.858000	0.48055	-0.124000	0.11690	-0.260000	0.06918	0.990000	0.36992	0.000000	0.08366	0.009000	0.08673	0.0:0.7388:0.0:0.2612	8.821	0.34186	583	0.69484	.	.	.	.	.	rs58750431	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.012588	0.000000	0.006793	0.005848	0.000000	0.000000	0.003049	0.030303	0.07895	4185.79	34	chr19	38815889	.	C	T	4185.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.65;DP=993;ExcessHet=0.3672;FS=0.822;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=11.72;ReadPosRankSum=0.61;SOR=0.627	GT:AD:DP:GQ:PL	0/1:68,52:120:99:1328,0,1619	16	0	3	0
chr19	39886548	39886548	G	A	exonic	FCGBP	.	nonsynonymous SNV	FCGBP:NM_003890:exon17:c.C7631T:p.A2544V	.	433	1018	71	0	0	71	0.0336972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.00515845595298	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1488096998	0.0035	0.0079	0.0032	0.0039	0.0116	0.0034	0.0034	0.0110	0.0107	0.0003	0.0011	0.0034	0	0.0012	0.0057	0.0032	0.0032	0.0116	0.0017	0.0049	0.0017	0.0017	0.0114	0.0016	0.0015	0.0089	0.0081	0.0003	0.0033	0.0011	0.0018	0	0.0013	0	0.0023	0.0014	0.0114	.	.	.	0.07	0.43721	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	-0.9734	0.36474	T	0.134	0.44759	T	9	0.010130703	0.00227	T	0.005158	0.13125	T	.	.	.	.	0.101711395817	0.09552	.	.	.	.	0.418726503849	0.27662	T	0.029995	0.21364	T	-0.267825	0.11999	T	-0.622489	0.10992	T	0.138795583218467	0.16171	T	0.763424	0.38984	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.255	0.48938	B	.	.	0.425453	0.07959	4.671	0.9942817816041134	0.64130	0.02634	0.07228	N	AEFBI	0.091879	0.18605	N	-1.21281395397476	0.04812	0.2180241	-1.37284189553889	0.03544	0.16553	0.0100883603552678	0.11964	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	3.71	-7.43	0.01238	-2.249000	0.01270	.	.	0.345000	0.19837	0.000000	0.06391	0.000000	0.08366	0.174000	0.21107	0.0:0.1829:0.2137:0.6034	9.409	0.37643	707	0.57054	von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	981.83	72	chr19	39886548	.	G	A	981.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-4.335;DP=1212;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=32.2;MQRankSum=0.492;QD=6.1;ReadPosRankSum=-0.818;SOR=0.813	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:63,18:81:99:0|1:39886548_G_A:534,0,2565:39886548	17	0	2	0
chr19	40667990	40667993	CTGT	0	exonic	NUMBL	.	.	.	.	0	27	2	1	196	200	0.0689655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6316	853.21	33	chr19	40667990	.	CTGT	*	853.21	.	AC=24;AF=0.632;AN=38;DP=856;ExcessHet=5.6906;FS=0.635;InbreedingCoeff=-0.2859;MLEAC=24;MLEAF=0.632;MQ=60;QD=1.1;SOR=0.605	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:2,40:42:36:1|1:40667975_C_T:1669,36,0:40667975	1	6	12	0
chr19	40667993	40668002	TTGCTGTTGC	0	exonic	NUMBL	.	.	.	.	438	226	37	0	821	858	0.0756646	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6579	78.42	33	chr19	40667993	.	TTGCTGTTGC	*	78.42	.	AC=25;AF=0.658;AN=38;BaseQRankSum=-1.002;DP=861;ExcessHet=1.8686;FS=0.664;InbreedingCoeff=-0.0857;MLEAC=25;MLEAF=0.658;MQ=60;MQRankSum=0;QD=0.1;ReadPosRankSum=0.057;SOR=0.589	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,40:42:42:1|1:40667975_C_T:2070,142,0:40667975	1	7	11	0
chr19	42907807	42907807	C	G	exonic	PSG6	.	nonsynonymous SNV	PSG6:NM_001031850:exon4:c.G754C:p.E252Q,PSG6:NM_002782:exon4:c.G754C:p.E252Q	.	11	1503	7	1	0	9	0.00298507	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	0.000805790385537	0.0002	0.000399361	0.0004	9.61e-05	0.0003	0	0	0.0005	0.0033	0.0004	0.0004204	65	154602	rs146009558	0.0008	0.0008	0.0009	0.0008	0.0018	0.0008	0.0008	0.0010	0.0009	0.0003	0.0003	3.831e-05	0	5.617e-05	0.0018	0.0010	0.0006	0.0002	0.0004	0.0004	0.0005	0.0004	0.0007	0.0004	0.0003	0.0006	0.0005	0.0002	0	0.0004	0.0003	0	0	0	0.0007	0	0.0002	0.239	0.18061	T	0.013	0.64786	D	1.0	0.90584	D	0.997	0.88582	D	.	.	.	.	1	0.18878	N	3.175	0.88760	M	1.3	0.46028	T	-1.82	0.42763	N	0.273	0.30914	-0.8397	0.52666	T	0.280	0.65139	T	9	0.050566345	0.04807	T	8.06E-4	0.00629	T	0.167	0.42761	.	.	0.443999229985	0.44019	0.16067935597719218	0.15988	.	.	.	.	.	0.011609	0.10331	T	-0.388784	0.02739	T	-0.395992	0.33850	T	0.063699370804634	0.07738	T	0.665033	0.30785	T	0.0608452	0.12532	0.03611847	0.02995	0.0608452	0.12531	0.03611847	0.02994	-8.185	0.62499	D	.	.	0.206	0.45859	B	.;.;.	.;.;.	0.829133	0.12004	8.563	0.96834728514430679	0.31278	0.01603	0.05200	N	AEFGI	0.031121	0.03262	N	-0.143136194267732	0.35527	2.041789	-0.51346978547306	0.21788	1.180265	1.96522938601365E-5	0.02871	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	0.790000	0.26562	2.250000	0.31680	0.423000	0.20817	0.006000	0.17386	0.700000	0.26228	0.001000	0.02609	0.0:1.0:0.0:0.0	6.293	0.20277	693	0.58582	.;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	0.001175	0.000000	0.002740	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	4968.33	36	chr19	42907807	.	C	G	4968.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.955;DP=1010;ExcessHet=0;FS=2.923;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.57;ReadPosRankSum=0.208;SOR=0.546	GT:AD:DP:GQ:PL	0/1:163,178:341:99:4982,0,4538	18	0	1	0
chr19	43258881	43258881	T	C	exonic	PSG9	.	nonsynonymous SNV	PSG9:NM_001301707:exon3:c.A685G:p.N229D,PSG9:NM_002784:exon4:c.A964G:p.N322D	.	25	1382	95	12	8	127	0.0412764	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.000295340419641	.	0.00159744	0.0023	0.0007	0.0047	0.0082	0	0.0013	0.0067	0.0041	0.0019987	309	154602	rs3180651	0.0010	0.0013	0.0010	0.0010	0.0042	0.0010	0.0009	0.0036	0.0034	0.0008	0.0015	0.0058	0.0042	1.894e-05	0.0017	0.0007	0.0013	0.0021	0.0014	0.0015	0.0014	0.0014	0.0068	0.0012	0.0011	0.0048	0.0041	0.0007	0	0.0020	0.0094	0.0068	0	0	0.0010	0.0020	0.0022	1.0	0.00964	T	1.0	0.01155	T	0.0	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	-2.035	0.00180	N	2.58	0.13434	T	2.12	0.00355	N	0.086	0.08088	-0.9379	0.42947	T	0.005	0.01833	T	9	0.007843822	0.00178	T	2.95E-4	0.00021	T	0.035	0.08770	.	.	0.0806252709748	0.07271	0.031672029704231504	0.03116	0.00516258222826	0.00457	0.418148577213	0.27583	T	0.002892	0.03050	T	-0.758037	0.00016	T	-0.857779	0.00867	T	0.0017153659934024	0.00017	T	0.607039	0.22875	T	0.04021668	0.05699	0.042632047	0.05121	0.04021668	0.05699	0.042632047	0.05120	-1.007	0.01007	T	.	.	0.064	0.03407	B	.;.;.;.	.;.;.;.	0.610932	0.09792	6.559	0.1973398977299303	0.00679	0.00062	0.00453	N	AEFI	0.014001	0.00207	N	-1.77595361989871	0.00606	0.02614232	-1.66980436884451	0.01277	0.0575801	1.65951084219822E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.39	0.173	0.14321	0.665000	0.24764	.	.	-0.717000	0.03845	0.960000	0.33603	0.002000	0.18203	0.002000	0.04165	0.0:0.7466:0.0:0.2534	4.082	0.09405	830	0.39242	Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	5134.52	38	chr19	43258881	.	T	C	5134.52	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.08;DP=1015;ExcessHet=0;FS=2.832;InbreedingCoeff=0.6381;MLEAC=1;MLEAF=0.026;MQ=52.25;MQRankSum=-12.23;QD=19.09;ReadPosRankSum=-3.309;SOR=0.88	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:140,58:198:99:0|1:43258867_T_C:1993,0,5666:43258867	18	0	1	0
chr19	47067218	47067218	G	A	exonic	ZC3H4	.	nonsynonymous SNV	ZC3H4:NM_015168:exon15:c.C3050T:p.T1017M	.	419	1099	3	1	0	5	0.00226963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.0150332512339	.	.	4.607e-05	0	0	0.0001	0	3.352e-05	0	0.0001	3.23e-05	5	154602	rs755402752	2.61e-05	2.736e-05	2.049e-05	3.176e-05	0.0001	1.94e-05	1.699e-05	7.151e-05	5.502e-05	0	0	0	5.056e-05	0	0	2.073e-05	3.329e-05	0.0001	1.972e-05	1.97e-05	2.57e-05	1.345e-05	6.546e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	6.546e-05	0	0	0	0	2.941e-05	0	0	0.145	0.25154	T	0.274	0.22084	T	0.999	0.77913	D	0.713	0.54588	P	0.295781	0.14687	N	0.654013	1	0.08975	N	0	0.06538	N	2.26	0.17596	T	-0.38	0.13418	N	0.083	0.05929	-1.0400	0.17313	T	0.040	0.17319	T	10	0.114064276	0.21449	T	0.015033	0.35522	T	0.137	0.36984	0.166	0.07071	0.110392049598	0.10638	.	.	0.113350433005	0.12795	0.523786783218	0.42159	T	0.072682	0.34514	T	-0.531847	0.00375	T	-0.722303	0.04685	T	0.146383747458458	0.16812	T	0.846115	0.52582	T	0.034940932	0.04019	0.042472348	0.05065	0.034940932	0.04019	0.042472348	0.05065	-4.956	0.36358	T	.	.	0.096	0.15296	B	.	.	3.083320	0.41486	21.4	0.99255030378140119	0.57022	0.59864	0.31033	D	AEFDBI	0.205614	0.33195	N	-0.0769176123477159	0.38405	2.248942	-0.140012682541645	0.33795	1.936961	0.36230077976123	0.19789	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.24	5.24	0.72863	2.602000	0.45921	11.672000	0.94114	0.676000	0.76740	0.069000	0.22043	1.000000	0.68203	0.005000	0.06747	0.0:0.15:0.85:0.0	14.279	0.65749	889	0.27310	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1425.33	37	chr19	47067218	.	G	A	1425.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.54;DP=721;ExcessHet=0;FS=0.858;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.77;ReadPosRankSum=-1.099;SOR=0.876	GT:AD:DP:GQ:PL	0/1:35,50:85:99:1439,0,780	18	0	1	0
chr19	47270570	47270570	C	T	exonic	CCDC9	.	nonsynonymous SNV	CCDC9:NM_015603:exon10:c.C967T:p.R323W	.	420	1100	2	0	0	2	0.000908265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178	0.0431289637793	.	.	9.099e-05	0	0.0003	0	0	9.024e-05	0	6.058e-05	7.12e-05	11	154602	rs200778283	5.268e-05	5.336e-05	5.173e-05	5.363e-05	0.0007	4.278e-05	3.953e-05	0.0002	0.0001	0	0.0002	3.826e-05	7.557e-05	0	0.0007	5.036e-05	3.313e-05	3.478e-05	2.628e-05	2.626e-05	1.284e-05	4.034e-05	0.0002	8.14e-06	5.14e-06	.	.	2.412e-05	0	6.541e-05	0	0.0002	0	0	1.47e-05	0	0	0.002	0.72154	D	0.004	0.74150	D	1.0	0.90584	D	0.999	0.92359	D	0.075495	0.21220	N	0.424382	0.987108	0.40536	D	2.045	0.56016	M	0.71	0.51228	T	-3.53	0.68532	D	0.544	0.57092	-0.6258	0.63747	T	0.250	0.61912	T	10	0.24051905	0.41212	T	0.043129	0.60822	D	0.178	0.44724	.	.	0.704964797884	0.70240	0.2711966310100616	0.27032	0.524550738601	0.50135	0.610900640488	0.54443	T	0.04276	0.26287	T	-0.218407	0.18211	T	-0.258016	0.49022	T	0.504126251296696	0.32780	D	0.914509	0.69499	D	0.22791137	0.45500	0.21240641	0.45708	0.22791137	0.45500	0.21240641	0.45708	-10.346	0.75957	D	.	.	0.181	0.42877	B	.;.	.;.	4.889176	0.80252	27.3	0.99536470356945028	0.70212	0.91212	0.53080	D	AEFDBI	0.422234	0.48832	N	0.473304137542341	0.65537	4.834948	0.408451683913313	0.62091	4.418795	0.113600431056474	0.16712	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	4.58	3.51	0.39297	3.730000	0.54731	5.108000	0.47491	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.1877:0.8123:0.0:0.0	10.961	0.46598	702	0.57624	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	797.33	33	chr19	47270570	.	C	T	797.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.58;DP=774;ExcessHet=0;FS=2.87;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.86;ReadPosRankSum=-0.604;SOR=0.647	GT:AD:DP:GQ:PL	0/1:56,34:90:99:811,0,1328	18	0	1	0
chr19	47545139	47545139	G	A	exonic	ZNF541	.	nonsynonymous SNV	ZNF541:NM_001277075:exon5:c.C1390T:p.P464S	.	418	1099	5	0	0	5	0.00226963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00321500355367	.	0.000798722	0.0044	0	0	0	0	0.0021	0	0.0076	0.0003881	60	154602	rs571605029	0.0013	0.0012	0.0012	0.0013	0.0027	0.0012	0.0012	0.0023	0.0022	0.0002	0.0014	0.0002	0	0.0003	0.0021	0.0013	0.0011	0.0027	0.0014	0.0014	0.0013	0.0014	0.0044	0.0012	0.0012	0.0036	0.0033	0.0004	0	0.0044	0	0	9.414e-05	0	0.0016	0.0014	0.0019	1.0	0.00964	T	0.938	0.02750	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.6	0.02229	N	2.69	0.12884	T	-0.15	0.09297	N	0.045	0.01740	-1.0008	0.29688	T	0.011	0.03949	T	9	0.0046203732	0.00096	T	0.003215	0.07057	T	0.027	0.05988	.	.	0.0666544352282	0.05500	0.019312484960308986	0.01885	.	.	0.366885960102	0.20383	T	0.001371	0.00840	T	-0.6499	0.00073	T	-0.71217	0.05185	T	0.00809328723972908	0.00096	T	0.348165	0.07698	T	0.019697128	0.00506	0.05694827	0.10265	0.019697128	0.00506	0.05694827	0.10264	-3.809	0.20939	T	.	.	0.075	0.05711	B	.;.	.;.	-2.101288	0.00080	0.001	0.561460369314014	0.05490	0.01159	0.04181	N	AEFDBI	0.030547	0.03097	N	-1.95960803750434	0.00258	0.01106537	-2.04369255307953	0.00247	0.01089332	0.999999949713857	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.478664	0.07449	1	0.63947	0.58350	0	.	.	5.52	-11.0	0.00133	-3.250000	0.00597	-3.728000	0.02577	-0.272000	0.06708	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0929:0.2415:0.5059:0.1596	7.122	0.24626	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	.	.	.	.	.	.	.	.	0.02632	775.33	37	chr19	47545139	.	G	A	775.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.58;DP=636;ExcessHet=0;FS=2.323;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.63;ReadPosRankSum=-0.881;SOR=0.404	GT:AD:DP:GQ:PL	0/1:27,26:53:99:789,0,740	18	0	1	0
chr19	48443875	48443875	G	A	exonic	GRIN2D	.	nonsynonymous SNV	GRIN2D:NM_000836:exon14:c.G3949A:p.G1317S	Epileptic encephalopathy, early infantile, 46, Autosomal dominant	439	1065	17	1	0	19	0.00884132	.	.	.	1610322	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.035	.	.	0.0123802	0.0528	0	0.0312	0	0	0.0064	0.0125	0.0720	0.0048641	752	154602	rs191119443	0.0059	0.0058	0.0044	0.0074	0.0551	0.0058	0.0058	0.0537	0.0531	0.0005	0.0040	0.0047	3.448e-05	9.159e-05	0.0051	0.0030	0.0066	0.0551	0.0038	0.0037	0.0032	0.0043	0.0555	0.0035	0.0034	0.0501	0.0479	0.0008	0	0.0037	0.0040	0.0004	0	0	0.0028	0.0033	0.0555	0.401	0.10447	T	0.616	0.07543	T	0.011	0.15914	B	0.01	0.14941	B	0.911519	0.08549	U	0.924145	0.986144	0.24644	N	-0.205	0.04094	N	2.96	0.09542	T	0.17	0.05125	N	0.166	0.17553	-0.9666	0.37894	T	0.005	0.01725	T	10	0.0019791722	0.00028	T	.	.	.	0.035	0.08770	.	.	.	.	0.14639003486082292	0.14561	.	.	0.900060594082	0.96447	D	0.046192	0.27349	T	-0.613197	0.00121	T	-0.612612	0.11774	T	0.0198147061849218	0.00683	T	0.567543	0.20130	T	0.062713966	0.13127	0.07339499	0.15944	0.068769485	0.15009	0.07339499	0.15943	-3.692	0.19200	T	.	.	0.106	0.19839	B	.	.	3.550016	0.49897	22.9	0.9749647172538225	0.34272	0.39949	0.26327	N	AEFDBCI	0.124563	0.24068	N	-0.495661383120007	0.22223	1.185071	-0.335326958120525	0.26967	1.493161	0.999996145135024	0.74766	0.700653	0.57754	0	0.596491	0.49125	0	0.717052	0.78885	0	0.63947	0.58350	0	.	.	3.24	3.24	0.36257	1.751000	0.37967	10.920000	0.84231	0.504000	0.22967	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.1385:0.0:0.8615:0.0	6.535	0.21543	958	0.09170	.	.	.	.	.	rs191119443	Likely benign	0	0	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	0.010808	0.006494	0.004601	0.009615	0.000000	0.000000	0.017730	0.021186	0.07895	1272.79	34	chr19	48443875	.	G	A	1272.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.337;DP=460;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=13.99;ReadPosRankSum=-1.358;SOR=0.75	GT:AD:DP:GQ:PL	0/1:9,23:32:99:565,0,165	16	0	3	0
chr19	48493869	48493869	G	T	exonic	LMTK3	.	nonsynonymous SNV	LMTK3:NM_001080434:exon13:c.C4004A:p.A1335E	.	240	1280	2	0	0	2	0.00078064	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.798687806693	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	0.30515	T	0.424	0.17064	T	0.319	0.32965	B	0.086	0.29521	B	0.757053	0.09653	U	0.820981	0.998949	0.21775	N	0.69	0.16971	N	-0.51	0.70717	T	1.76	0.00537	N	0.147	0.19995	-0.9689	0.37427	T	0.141	0.46110	T	10	0.14974204	0.28334	T	0.798688	0.98424	D	0.067	0.19503	0.268	0.21576	0.422762650823	0.41893	.	.	.	.	0.908074498177	0.97285	D	0.00249	0.01884	T	-0.108663	0.34990	T	-0.393864	0.34100	T	0.200109220570005	0.20422	T	0.441356	0.12220	T	0.13980037	0.32280	0.13485001	0.32304	0.13980037	0.32280	0.13485001	0.32303	-5.467	0.41559	T	.	.	0.127	0.28027	B	.;.;.	.;.;.	2.479222	0.31965	18.90	0.97906519796647329	0.36780	0.41123	0.26588	N	AEFDBHCI	0.089994	0.18238	N	-0.517274016875464	0.21521	1.142747	-0.422763811519598	0.24331	1.331755	0.999999983284307	0.74766	0.65757	0.49021	0	0.218748	0.04544	0	0.619478	0.44681	0	0.56214	0.19341	0	.	.	3.26	0.848	0.18105	-0.274000	0.08569	3.484000	0.38668	0.482000	0.22156	0.010000	0.18352	1.000000	0.68203	0.822000	0.38733	0.0:0.37:0.4282:0.2017	5.281	0.14984	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	.	.	.	.	.	.	.	.	0.02632	509.39	32	chr19	48493869	.	G	T	509.39	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.426;DP=492;ExcessHet=0;FS=0;InbreedingCoeff=-0.0306;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=0.295;SOR=0.859	GT:AD:DP:GQ:PL	0/1:20,19:39:99:523,0,518	18	0	1	0
chr19	48703267	48703267	C	T	exonic	FUT2	.	nonsynonymous SNV	FUT2:NM_000511:exon2:c.C311T:p.A104V,FUT2:NM_001097638:exon2:c.C311T:p.A104V	.	419	1054	48	1	0	50	0.0231696	.	.	.	984434	Familial_Otitis_Media	.	no_assertion_criteria_provided	confers_sensitivity	.	.	.	.	.	.	.	.	0.779	.	0.0006	0.00319489	0.0039	0.0002	0.0015	0.0001	0	0.0014	0.0080	0.0210	0.0032923	509	154602	rs149356814	0.0019	0.0019	0.0013	0.0025	0.0206	0.0019	0.0018	0.0198	0.0195	0.0001	0.0010	0.0028	7.557e-05	1.892e-05	0.0116	0.0006	0.0025	0.0206	0.0013	0.0013	0.0012	0.0014	0.0194	0.0012	0.0011	0.0162	0.0150	9.624e-05	0	0.0011	0.0037	0	0	0.0102	0.0010	0.0019	0.0194	0.039	0.42487	D	0.019	0.59159	D	0.999	0.77913	D	0.982	0.75477	D	.	.	.	.	0.941004	0.37318	D	2.965	0.85198	M	-4.16	0.96826	D	-3.22	0.64939	D	0.558	0.81360	1.135	0.99931	D	0.939	0.97982	D	9	0.01712045	0.00364	T	.	.	.	0.779	0.92623	.	.	0.982550369732	0.98236	0.44415395212301567	0.44333	0.733435026441	0.62845	0.430974453688	0.29342	T	0.131596	0.46118	T	0.0547111	0.58947	T	0.265279	0.86341	D	0.0505083253708795	0.05590	T	0.894311	0.63332	D	0.28840944	0.51844	0.36057407	0.61497	0.36899018	0.58511	0.33836746	0.59615	-8.024	0.61234	D	.	.	0.322	0.54638	B	.;.;.	.;.;.	3.915589	0.57135	23.8	0.99915014806242197	0.98309	0.97369	0.74314	D	AEFGBI	0.579516	0.58029	D	0.583976673298565	0.72176	5.764432	0.441392951124102	0.64165	4.665643	0.532866957730309	0.21190	0.660377	0.49826	0	0.588066	0.40923	0	0.696353	0.63694	0	0.622129	0.49086	0	.	.	4.19	4.19	0.48645	4.729000	0.61702	4.155000	0.42174	0.589000	0.31548	0.994000	0.38300	0.999000	0.35428	0.091000	0.17840	0.0:1.0:0.0:0.0	14.405	0.66645	878	0.29785	.;.;.	.	.	.	.	.	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	0.007560	0.000000	0.006793	0.000000	0.000000	0.008621	0.015244	0.011364	0.02632	1686.33	34	chr19	48703267	.	C	T	1686.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.719;DP=1404;ExcessHet=0;FS=0.71;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=53.14;MQRankSum=0.87;QD=15.47;ReadPosRankSum=-1.74;SOR=0.775	GT:AD:DP:GQ:PL	0/1:48,61:109:99:1700,0,1369	18	0	1	0
chr19	49290243	49290243	C	T	exonic	SLC6A16	.	nonsynonymous SNV	SLC6A16:NM_014037:exon12:c.G2091A:p.M697I	.	429	1090	3	0	0	3	0.00137426	.	.	.	2378388	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.111	0.00752118909624	.	.	0.0001	0	0	0	0	0	0	0.0010	0.0001035	16	154602	rs753409719	4.925e-05	4.925e-05	2.722e-05	7.15e-05	0.0007	3.992e-05	3.669e-05	0.0006	0.0005	0	0	0	0	0	0.0005	2.698e-06	4.967e-05	0.0007	6.569e-06	6.562e-06	0	1.344e-05	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.922	0.02298	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000000	0.00162	N	1623.550000	1	0.08975	N	-0.49	0.02651	N	-0.71	0.72889	T	-0.25	0.11008	N	0.022	0.00372	-0.9527	0.40503	T	0.102	0.37743	T	10	0.015222609	0.00320	T	0.007521	0.19952	T	0.111	0.31313	0.128	0.03331	0.346544149963	0.34258	0.06073439329352825	0.06013	0.203671947699	0.22786	0.248803794384	0.03643	T	0.015958	0.13282	T	-0.597426	0.00151	T	-0.69976	0.05839	T	0.0149546529540831	0.00319	T	0.265273	0.04325	T	0.07731978	0.17542	0.052189942	0.08550	0.07731978	0.17541	0.052189942	0.08550	-2.631	0.06742	T	.	.	0.108	0.20274	B	.	.	-2.017706	0.00097	0.002	0.21539136257211122	0.00825	0.00268	0.01460	N	AEFBI	0.031832	0.03479	N	-2.44807020986365	0.00021	0.0009085581	-2.51919479151638	0.00021	0.0009223329	0.999708720035903	0.41986	0.549168	0.22868	0	0.573888	0.26702	0	0.602189	0.34648	0	0.616125	0.45549	0	.	.	3.44	-6.89	0.01501	-3.622000	0.00461	-5.517000	0.01690	-1.037000	0.01675	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1799:0.2367:0.1655:0.4179	1.346	0.02034	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	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1349.33	37	chr19	49290243	.	C	T	1349.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.297;DP=731;ExcessHet=0;FS=6.48;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.91;ReadPosRankSum=-1.449;SOR=0.836	GT:AD:DP:GQ:PL	0/1:46,51:97:99:1363,0,1209	18	0	1	0
chr19	49590043	49590043	C	G	exonic	PRRG2	.	nonsynonymous SNV	PRRG2:NM_000951:exon6:c.C581G:p.P194R,PRRG2:NM_001316335:exon6:c.C512G:p.P171R	.	771	746	3	2	0	7	0.00466978	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.735	.	.	0.00139776	0.0068	0	0.0068	0.0120	0	0.0041	0	0.0089	0.0005563	86	154602	rs372675632	0.0006	0.0006	0.0005	0.0008	0.0065	0.0006	0.0006	0.0046	0.0045	0.0003	0.0004	8.344e-05	0.0011	0	0.0065	0.0002	0.0021	0.0051	0.0006	0.0006	0.0006	0.0006	0.0029	0.0005	0.0005	0.0018	0.0014	0.0008	0	0.0003	0.0003	0.0029	0	0	0.0004	0.0014	0.0023	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.005	0.85968	M	-5.77	0.99345	D	-6.39	0.91141	D	0.643	0.65501	1.073	0.98673	D	0.976	0.99257	D	10	0.011936605	0.00259	T	.	.	.	0.735	0.90764	0.266	0.21261	0.884095820214	0.88296	0.4825222161902031	0.48172	0.674593520347	0.59651	0.728881716728	0.71343	T	0.162555	0.50727	T	-0.0799155	0.39729	T	0.113797	0.77824	D	0.0910726108496826	0.11345	T	0.692231	0.30167	T	0.806334	0.84313	0.71152985	0.82982	0.806334	0.84315	0.71152985	0.82982	-8.668	0.65537	D	.	.	0.507	0.64880	A	.	.	4.355391	0.66934	25.0	0.99844365323190465	0.92403	0.70248	0.34513	D	ALL	0.456216	0.50818	N	0.661671955834873	0.77125	6.615091	0.598155458747023	0.74809	6.200	0.999999999947203	0.74766	0.495158	0.18159	0	0.607795	0.50457	0	0.503968	0.08637	0	0.75052	0.99595	0	.	.	4.76	4.76	0.60189	3.182000	0.50611	5.840000	0.50240	0.599000	0.40250	0.972000	0.34453	0.999000	0.35428	0.960000	0.51673	0.0:1.0:0.0:0.0	13.595	0.61449	760	0.50470	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002670	0.000000	0.000000	0.010526	0.000000	0.000000	0.000000	0.009091	0.02778	114.82	6	chr19	49590043	.	C	G	114.82	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-0.543;DP=174;ExcessHet=0;FS=2.363;InbreedingCoeff=-0.048;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=8.2;ReadPosRankSum=0.821;SOR=0.169	GT:AD:DP:GQ:PL	0/1:8,6:14:99:128,0,197	17	0	1	1
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	.	.	.	.	.	.	.	.	0.02632	265.33	49	chr19	49958569	.	G	C	265.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.73;DP=789;ExcessHet=0;FS=10.687;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.03;MQRankSum=-8.491;QD=2.07;ReadPosRankSum=-3.581;SOR=2.171	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:113,15:128:99:0|1:49958563_T_G:279,0,4700:49958563	18	0	1	0
chr19	49972089	49972089	T	C	exonic	SIGLEC16	.	nonsynonymous SNV	SIGLEC16:NM_001348364:exon6:c.T1255C:p.F419L	.	413	1089	17	3	0	23	0.0104498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	.	.	0.00758786	0.0004	9.99e-05	8.702e-05	0.0001	0	0.0006	0	0.0001	0.0003493	54	154602	rs567880477	0.0006	0.0032	0.0006	0.0007	0.0016	0.0006	0.0006	0.0008	0.0006	0.0002	0.0004	0.0013	7.566e-05	0.0017	0.0016	0.0006	0.0013	8.164e-05	0.0049	0.0088	0.0051	0.0047	0.0075	0.0046	0.0045	0.0069	0.0067	0.0012	0.0056	0.0041	0.0081	0	0.0066	0.0180	0.0075	0.0064	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	102.33	40	chr19	49972089	.	T	C	102.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.157;DP=1003;ExcessHet=0;FS=15.601;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.2;MQRankSum=-5.783;QD=1.55;ReadPosRankSum=-2.243;SOR=3.043	GT:AD:DP:GQ:PL	0/1:57,9:66:99:116,0,1673	18	0	1	0
chr19	50226912	50226912	A	G	exonic	MYH14	.	nonsynonymous SNV	MYH14:NM_024729:exon7:c.A796G:p.I266V,MYH14:NM_001077186:exon8:c.A820G:p.I274V,MYH14:NM_001145809:exon8:c.A820G:p.I274V	Deafness, autosomal dominant 4A, Autosomal dominant	1	1497	22	2	0	26	0.00860927	.	.	.	176039	not_provided|not_specified|Autosomal_dominant_nonsyndromic_hearing_loss_4A|MYH14-related_disorder	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0010915,MedGen:C1833503,OMIM:600652,Orphanet:90635|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.625	0.251596887955	0.0008	0.000199681	0.0005	9.701e-05	8.657e-05	0	0	0.0006	0	0.0010	0.0004463	69	154602	rs200424400	0.0004	0.0004	0.0003	0.0005	0.0043	0.0003	0.0003	0.0030	0.0026	0	0.0003	0.0003	0	0	0.0043	0.0003	0.0008	0.0014	0.0003	0.0003	0.0003	0.0003	0.0008	0.0002	0.0002	0.0004	0.0003	2.41e-05	0	0.0002	0.0003	0	0	0	0.0005	0.0014	0.0008	0.016	0.52492	D	0.031	0.53788	D	0.975	0.67487	D	0.868	0.68536	P	.	.	.	.	0.999996	0.58761	D	2.2	0.62015	M	-2.39	0.88377	D	-0.87	0.23808	N	0.6	0.62526	0.619	0.92149	D	0.758	0.91742	D	9	0.22559306	0.39393	T	0.251597	0.89138	D	0.625	0.85511	.	.	0.751287166028	0.74903	0.3715412704269541	0.37068	0.664657686102	0.59097	0.760631024837	0.76023	T	0.370975	0.73542	T	-0.227062	0.17040	T	-0.159533	0.58395	T	0.0847291871905327	0.10581	T	0.89931	0.65300	D	0.11250037	0.26578	0.3126077	0.57261	0.12450874	0.29211	0.33650658	0.59451	-11.556	0.82621	D	0.5531031834935545	0.62149	0.560	0.71213	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.374302	0.67375	25.1	0.99788685013762934	0.87484	0.98060	0.79260	D	AEFDBI	0.912232	0.87258	D	0.650209491620924	0.76382	6.476178	0.593234592558211	0.74452	6.13973	0.827293745451382	0.24630	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	3.92	3.92	0.44525	9.150000	0.93833	10.916000	0.84210	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.958000	0.51230	1.0:0.0:0.0:0.0	11.04	0.47042	840	0.37365	.;.;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain;.;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain;.;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005539	0.000000	0.004076	0.005848	0.000000	0.008621	0.009146	0.003788	0.02632	1081.33	33	chr19	50226912	.	A	G	1081.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.169;DP=756;ExcessHet=0;FS=1.517;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.65;ReadPosRankSum=1.36;SOR=0.866	GT:AD:DP:GQ:PL	0/1:64,48:112:99:1095,0,1698	18	0	1	0
chr19	51079551	51079551	G	A	exonic	KLK14	.	nonsynonymous SNV	KLK14:NM_001369775:exon4:c.C364T:p.R122W,KLK14:NM_001311182:exon5:c.C364T:p.R122W,KLK14:NM_022046:exon5:c.C364T:p.R122W	.	424	1064	34	0	0	34	0.0157262	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.220	.	0.0075	0.00419329	0.0083	0.0025	0.0072	0.0001	0.0060	0.0102	0.0084	0.0102	0.0079365	1227	154602	rs112658494	0.0100	0.0100	0.0101	0.0099	0.0137	0.0098	0.0098	0.0113	0.0108	0.0018	0.0060	0.0065	5.038e-05	0.0055	0.0137	0.0110	0.0090	0.0107	0.0074	0.0074	0.0077	0.0071	0.0109	0.0071	0.0069	0.0103	0.0100	0.0024	0.0186	0.0074	0.0075	0.0002	0.0046	0.0238	0.0109	0.0109	0.0104	0.338	0.23183	T	0.017	0.60337	D	0.998	0.73220	D	0.929	0.66367	D	.	.	.	.	1	0.08975	N	1.78	0.46185	L	-2.47	0.89293	D	-3.55	0.74051	D	0.411	0.45142	-0.2042	0.77562	T	0.635	0.87226	D	9	0.014386356	0.00303	T	.	.	.	0.220	0.51569	.	.	0.811110782611	0.80934	0.6282621342850477	0.62759	0.596895955248	0.54907	0.476279169321	0.35544	T	0.372321	0.73653	T	-0.357965	0.04246	T	-0.276581	0.47154	T	0.0444715671153752	0.04506	T	0.434357	0.11884	T	0.20042667	0.42018	0.22102161	0.46898	0.20042667	0.42017	0.22102161	0.46897	-6.713	0.51908	T	.	.	0.210	0.43707	B	.;.;.	.;.;.	3.197651	0.43469	21.7	0.99809278564540604	0.89353	0.09311	0.15093	N	AEFDBCI	0.133143	0.25270	N	-0.240936203016391	0.31467	1.764708	-0.480575321267949	0.22688	1.233621	0.00406709125317699	0.10401	0.553676	0.25195	0	0.588015	0.36545	0	0.576033	0.28219	0	0.604944	0.38103	0	.	.	4.81	0.678	0.17136	-0.427000	0.07068	.	.	-0.251000	0.07141	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0928:0.0:0.4488:0.4584	6.656	0.22179	958	0.09170	.;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.015136	0.005051	0.017711	0.017544	0.000000	0.000000	0.009202	0.022727	0.05263	2321.83	38	chr19	51079551	.	G	A	2321.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.16;DP=789;ExcessHet=0.119;FS=0.558;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.97;ReadPosRankSum=0.353;SOR=0.61	GT:AD:DP:GQ:PL	0/1:42,50:92:99:1251,0,996	17	0	2	0
chr19	52384821	52384821	-	ATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCC	exonic	ZNF880	.	stopgain	ZNF880:NM_001145434:exon4:c.1241_1242insATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCC:p.K415Sfs*2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs779596445	0.0025	0.0048	0.0023	0.0026	0.0055	0.0024	0.0024	0.0049	0.0047	0.0026	0.0023	0.0064	0.0055	0.0054	0.0049	0.0021	0.0039	0.0011	0.0043	0.0060	0.0044	0.0042	0.0054	0.0040	0.0039	0.0044	0.0042	0.0032	0.0046	0.0037	0.0089	0.0041	0.0034	0.0118	0.0048	0.0042	0.0054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	3948.52	103	chr19	52384821	.	G	GATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCC	3948.52	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.913;DP=1172;ExcessHet=6.9875;FS=83.047;InbreedingCoeff=-0.3567;MLEAC=3;MLEAF=0.079;MQ=58.37;MQRankSum=-1.962;QD=6.88;ReadPosRankSum=-1.104;SOR=8.979	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:19,16:35:99:0|1:52384817_T_TTTGGGAGGCCGAGGCGG:615,0,750:52384817	16	0	3	0
chr19	54191871	54191871	G	A	exonic	TSEN34	.	nonsynonymous SNV	TSEN34:NM_001077446:exon2:c.G394A:p.G132R,TSEN34:NM_001282332:exon3:c.G394A:p.G132R,TSEN34:NM_001282333:exon3:c.G403A:p.G135R,TSEN34:NM_024075:exon3:c.G394A:p.G132R	.	0	225	1	0	0	1	0.00221729	.	.	.	193675	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.076	0.0227782339338	0.0004	0.000998403	0.0008	0.0003	0.0003	0	0.0002	0.0005	0	0.0035	0.0007827	121	154602	rs201506921	0.0008	0.0008	0.0007	0.0009	0.0034	0.0008	0.0008	0.0031	0.0030	0.0001	0.0002	0	0	0.0002	0.0007	0.0008	0.0004	0.0034	0.0005	0.0005	0.0005	0.0005	0.0035	0.0004	0.0004	0.0022	0.0018	0.0002	0	0.0003	0	0	9.423e-05	0	0.0007	0.0005	0.0035	0.366	0.22573	T	0.385	0.20228	T	0.0	0.02946	B	0.001	0.04355	B	0.225576	0.16037	N	0.627706	1	0.08975	N	1.01	0.25309	L	-0.08	0.63911	T	0.66	0.02945	N	0.279	0.41360	-0.9919	0.32115	T	0.152	0.48135	T	10	0.0052583218	0.00115	T	0.022778	0.45699	T	0.076	0.22200	0.256	0.19689	0.635861425549	0.63286	0.3677043297206493	0.36684	0.345189148028	0.36432	0.3500187397	0.17925	T	0.007182	0.06595	T	-0.475437	0.00787	T	-0.45813	0.26804	T	0.00741145856944176	0.00085	T	.	.	.	0.035348997	0.04144	0.072385125	0.15610	0.040777344	0.05882	0.068361886	0.14267	-5.584	0.42646	T	.	.	0.094	0.15743	B	.;.;.;.;.;.	.;.;.;.;.;.	2.045579	0.26006	16.96	0.89186984762474364	0.18583	0.59242	0.30861	D	AEFDGBCIJ	0.383081	0.46472	N	-0.593194099568699	0.19150	1.000024	-0.565511699685352	0.20395	1.098611	0.999999708656584	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.52208	0.10781	0	0.657601	0.63696	0	.	.	4.29	3.25	0.36363	3.519000	0.53214	.	.	0.672000	0.70159	0.283000	0.25169	0.707000	0.26269	0.076000	0.17014	0.113:0.0:0.887:0.0	8.249	0.30864	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	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	3927.33	35	chr19	54191871	.	G	A	3927.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.93;DP=982;ExcessHet=0;FS=9.596;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.78;ReadPosRankSum=-0.107;SOR=1.239	GT:AD:DP:GQ:PL	0/1:101,133:234:99:3941,0,2492	18	0	1	0
chr19	54587233	54587233	G	A	exonic	LILRA2	.	nonsynonymous SNV	LILRA2:NM_001290270:exon6:c.G1252A:p.V418M,LILRA2:NM_001130917:exon8:c.G1339A:p.V447M,LILRA2:NM_006866:exon8:c.G1288A:p.V430M	.	428	1086	8	0	0	8	0.00366972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	.	.	0.00998403	0.0052	0	0.0003	0.0001	0	2.997e-05	0	0.0377	0.0045989	711	154602	rs377042732	0.0021	0.0022	0.0012	0.0031	0.0337	0.0021	0.0020	0.0327	0.0323	8.961e-05	4.472e-05	0	5.038e-05	0	0.0007	2.068e-05	0.0029	0.0337	0.0013	0.0014	0.0009	0.0018	0.0395	0.0012	0.0011	0.0349	0.0332	9.63e-05	0	0	0	0.0004	0	0	4.411e-05	0.0014	0.0395	0.208	0.19782	T	0.2	0.27591	T	0.988	0.62325	D	0.808	0.58514	P	0.011403	0.01305	N	3.607130	1	0.18198	N	.	.	.	6.97	0.00494	T	-0.83	0.24460	N	0.205	0.27077	-0.9013	0.47857	T	0.005	0.01615	T	10	0.003334105	0.00058	T	.	.	.	0.121	0.33580	0.434	0.48500	0.361558571881	0.35766	0.09159311947339123	0.09092	0.072316980376	0.08112	.	.	.	0.010693	0.09633	T	-0.580136	0.00192	T	-0.579641	0.14576	T	0.0200827617830714	0.00709	T	0.833317	0.50212	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.28116	B	.;.;.;.;.	.;.;.;.;.	1.364680	0.17740	13.34	0.99239800419703561	0.56501	0.01327	0.04579	N	AEFBI	0.069972	0.13873	N	-0.27118351665017	0.30265	1.685982	-0.508387749701442	0.21925	1.188397	1.68489167529508E-4	0.05721	0.549168	0.22868	0	0.627178	0.54094	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.74	1.69	0.23290	-0.605000	0.05757	.	.	-0.147000	0.12262	0.000000	0.06391	0.000000	0.08366	0.123000	0.19290	0.1792:0.0:0.8208:0.0	4.905	0.13147	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	0.002518	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	2482.33	34	chr19	54587233	.	G	A	2482.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.49;DP=827;ExcessHet=0;FS=1.796;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.8;ReadPosRankSum=-0.226;SOR=0.83	GT:AD:DP:GQ:PL	0/1:107,87:194:99:2496,0,2691	18	0	1	0
chr19	54594895	54594895	G	A	exonic	LILRA1	.	nonsynonymous SNV	LILRA1:NM_001278319:exon3:c.G301A:p.G101S,LILRA1:NM_001278318:exon4:c.G301A:p.G101S,LILRA1:NM_006863:exon4:c.G301A:p.G101S	.	14	1505	3	0	0	3	0.000995685	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	.	.	0.00678914	0.0036	0	0.0003	0.0002	0	0	0	0.0259	0.0031565	488	154602	rs201715627	0.0015	0.0015	0.0009	0.0021	0.0237	0.0015	0.0014	0.0229	0.0225	2.987e-05	4.473e-05	0	0.0002	0	0.0007	1.799e-05	0.0020	0.0237	0.0010	0.0010	0.0007	0.0012	0.0265	0.0008	0.0008	0.0228	0.0214	0.0001	0	6.533e-05	0	0.0008	0	0	5.882e-05	0.0014	0.0265	0.393	0.10730	T	0.409	0.14588	T	0.093	0.61523	B	0.083	0.55870	B	0.000000	0.00162	N	8.473480	1	0.08975	N	-0.195	0.04202	N	5.92	0.00621	T	0.1	0.16799	N	0.1	0.08227	-0.9881	0.33077	T	0.003	0.00832	T	10	0.0028571486	0.00046	T	.	.	.	0.091	0.26358	.	.	0.0297737177859	0.01360	0.06064675443020376	0.06004	0.0258598480746	0.02640	0.232274666429	0.02141	T	1.63E-4	0.00025	T	-0.671528	0.00054	T	-0.717783	0.04904	T	0.0519666922231313	0.05841	T	.	.	.	0.088846505	0.20739	0.09042751	0.21204	0.088846505	0.20739	0.09042751	0.21203	-4.087	0.31856	T	.	.	0.104	0.21653	B	.;.	.;.	-0.900205	0.00925	0.035	0.86717309694172229	0.16725	0.00044	0.00357	N	AEFBI	0.033420	0.03961	N	-1.61299750278277	0.01201	0.05221125	-1.78236775774007	0.00817	0.03649151	0.999920003164853	0.46280	0.59774	0.34471	0	0.596491	0.49125	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.58	-3.16	0.04897	-3.387000	0.00542	.	.	-1.208000	0.01354	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3495:0.0:0.1803:0.4702	2.108	0.03472	946	0.12043	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	0.002016	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	3296.33	158	chr19	54594895	.	G	A	3296.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.64;DP=2948;ExcessHet=0;FS=3.394;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.94;MQRankSum=0.956;QD=12.58;ReadPosRankSum=1.29;SOR=0.512	GT:AD:DP:GQ:PL	0/1:138,124:262:99:3310,0,3450	18	0	1	0
chr19	54664344	54664344	G	A	exonic	LILRB4	.	nonsynonymous SNV	LILRB4:NM_001278429:exon3:c.G601A:p.G201R,LILRB4:NM_001278426:exon4:c.G514A:p.G172R,LILRB4:NM_001278427:exon4:c.G514A:p.G172R,LILRB4:NM_001278428:exon4:c.G514A:p.G172R,LILRB4:NM_001278430:exon4:c.G514A:p.G172R	.	19	1498	5	0	0	5	0.00166611	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	0.0068	0.0191693	0.0067	0.0236	0.0020	0.0006	0	5.994e-05	0.0033	0.0321	0.0061966	958	154602	rs73933937	0.0025	0.0025	0.0018	0.0032	0.0293	0.0024	0.0024	0.0283	0.0279	0.0213	0.0015	0	0.0005	0	0.0014	4.946e-05	0.0041	0.0293	0.0073	0.0074	0.0072	0.0075	0.0326	0.0070	0.0068	0.0284	0.0268	0.0219	0	0.0019	0	0.0008	0	0.0068	0.0001	0.0043	0.0326	0.605	0.08736	T	0.565	0.09522	T	0.016	0.21573	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	.	.	.	3.98	0.03297	T	0.68	0.02993	N	0.04	0.01498	-0.9357	0.43288	T	0.002	0.00615	T	9	0.0030515492	0.00050	T	.	.	.	0.035	0.08770	0.392	0.41606	0.0401082797425	0.02173	0.09292834520391914	0.09224	0.0203699966938	0.02001	0.246832832694	0.03441	T	0.002467	0.02055	T	-0.781241	0.00011	T	-0.87129	0.00730	T	0.00241988296629841	0.00025	T	0.0383962	0.00307	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.08176	B	.;.;.;.;.	.;.;.;.;.	-1.072412	0.00674	0.019	0.46353977768677107	0.03707	0.00345	0.01785	N	AEFDBI	0.068173	0.13435	N	-1.5097519095116	0.01785	0.0782166	-1.59689825112048	0.01674	0.07602943	0.927986926974901	0.26910	0.660085	0.49399	0	0.662677	0.63036	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.93	-3.85	0.03964	-4.634000	0.00237	.	.	-2.589000	0.00238	0.000000	0.06391	0.001000	0.17328	0.000000	0.00833	0.1753:0.2196:0.221:0.3842	0.440	0.00452	793	0.45818	.;Immunoglobulin|Immunoglobulin-like domain;Immunoglobulin|Immunoglobulin-like domain;Immunoglobulin|Immunoglobulin-like domain;Immunoglobulin|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	0.004532	0.005051	0.002717	0.002924	0.000000	0.000000	0.003049	0.003788	0.02632	3574.33	144	chr19	54664344	.	G	A	3574.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.27;DP=1314;ExcessHet=0;FS=3.251;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.72;ReadPosRankSum=-0.312;SOR=0.878	GT:AD:DP:GQ:PL	0/1:149,132:281:99:3588,0,3709	18	0	1	0
chr19	55045206	55045206	G	C	exonic	RDH13	.	nonsynonymous SNV	RDH13:NM_001145971:exon7:c.C864G:p.F288L,RDH13:NM_138412:exon8:c.C651G:p.F217L	.	423	1073	26	0	0	26	0.0119705	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.587	.	0.0068	0.00379393	0.0083	0.0008	0.0042	0	0.0070	0.0106	0.0079	0.0110	0.0079559	1230	154602	rs56125820	0.0093	0.0093	0.0092	0.0093	0.0144	0.0092	0.0091	0.0119	0.0110	0.0015	0.0047	0.0081	5.038e-05	0.0073	0.0144	0.0100	0.0085	0.0116	0.0068	0.0068	0.0067	0.0070	0.0122	0.0065	0.0064	0.0097	0.0090	0.0016	0	0.0069	0.0078	0	0.0090	0.0238	0.0098	0.0066	0.0122	0.011	0.57480	D	0.025	0.64786	D	0.835	0.46254	P	0.19	0.36341	B	0.000009	0.62929	D	0.112974	0.782476	0.34284	D	0.93	0.23535	L	-3.55	0.94834	D	-5.19	0.83625	D	0.444	0.48227	-0.0272	0.81690	T	0.557	0.83836	D	10	0.006888509	0.00156	T	.	.	.	0.587	0.83471	0.699	0.83592	0.736989248879	0.73463	0.7326798601072219	0.73212	0.194085872631	0.21745	0.735047757626	0.72244	T	0.171346	0.51944	T	-0.165664	0.25891	T	-0.000353042	0.70313	D	0.0759697476757848	0.09464	T	.	.	.	0.4629253	0.64853	0.45011628	0.67997	0.4629253	0.64854	0.45011628	0.67998	-8.604	0.71176	D	.	.	0.991	0.93792	P	.;.;.	.;.;.	1.844192	0.23430	16.01	0.98331568901600575	0.40348	0.62815	0.31896	D	AEFDGBCI	0.220312	0.34508	N	-0.711334249114612	0.15702	0.7936669	-0.815680504773558	0.14116	0.7359038	0.413996110449008	0.20236	0.67177	0.52595	0	0.653731	0.59785	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	4.61	-4.24	0.03519	-0.054000	0.11783	.	.	-0.208000	0.08445	0.041000	0.21027	0.000000	0.08366	0.871000	0.41478	0.8181:0.0:0.1819:0.0	11.974	0.52373	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	0.009567	0.025253	0.009511	0.011696	0.000000	0.000000	0.015244	0.007576	0.02632	1415.33	34	chr19	55045206	.	G	C	1415.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.68;DP=733;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.3;ReadPosRankSum=0.284;SOR=0.709	GT:AD:DP:GQ:PL	0/1:46,53:99:99:1429,0,1062	18	0	1	0
chr19	55358524	55358524	C	0	exonic	FAM71E2	.	.	.	.	438	22	102	3	957	1065	0.710526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8947	3628.45	124	chr19	55358524	.	C	*	3628.45	.	AC=34;AF=0.895;AN=38;DP=2110;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=34;MLEAF=0.895;MQ=60;QD=2.07;SOR=0.847	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,77:77:99:.:.:3371,237,0:.	0	15	4	0
chr19	55358535	55358535	T	0	exonic	FAM71E2	.	.	.	.	454	13	102	3	950	1058	0.80597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8947	3915.38	124	chr19	55358535	.	T	*	3915.38	.	AC=34;AF=0.895;AN=38;DP=2124;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=34;MLEAF=0.895;MQ=60;QD=2.23;SOR=0.837	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,77:77:99:.:.:3371,237,0:.	0	15	4	0
chr19	55359385	55359385	C	T	exonic	FAM71E2	.	nonsynonymous SNV	FAM71E2:NM_001145402:exon9:c.G1483A:p.V495I	.	433	1087	2	0	0	2	0.000919118	.	.	.	3251325	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.013	0.0170914622109	.	.	0.0004	0	0	0	0	0	0	0.0008	3.88e-05	6	154602	rs770994682	0.0001	0.0001	7.764e-05	0.0002	0.0016	0.0001	9.758e-05	0.0014	0.0013	0.0001	0.0002	0	0.0002	0	0	1.298e-05	0.0001	0.0016	0.0001	0.0002	0.0002	0.0001	0.0013	9.782e-05	8.291e-05	0.0005	0.0004	0.0002	0	0.0003	0	0.0006	0	0	0	0.0005	0.0013	0.387	0.10945	T	0.555	0.09267	T	0.003	0.11197	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	1.295	0.32453	L	2.52	0.14160	T	-0.29	0.11728	N	0.018	0.00252	-0.9310	0.43992	T	0.018	0.07282	T	9	0.009979278	0.00224	T	0.017091	0.38644	T	0.013	0.01715	0.169	0.07419	0.0138822411134	0.00435	0.018675326737760643	0.01821	.	.	0.306275576353	0.11344	T	6.07E-4	0.00251	T	-0.749232	0.00018	T	-0.862226	0.00819	T	0.00405261580524738	0.00043	T	0.293771	0.05407	T	0.022191951	0.00866	0.030548535	0.01524	0.022191951	0.00866	0.030548535	0.01523	-4.485	0.30692	T	.	.	0.086	0.10691	B	.	.	-1.620641	0.00230	0.004	0.6245423426186717	0.06967	0.00629	0.02767	N	AEFGBI	0.047621	0.08039	N	-1.87876827789499	0.00380	0.01631097	-1.99475568695328	0.00314	0.01387033	0.00248618789862218	0.09470	0.517182	0.21443	0	0.59043	0.45803	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	2.72	-5.44	0.02419	-2.968000	0.00734	-8.241000	0.01003	-3.058000	0.00131	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.1843:0.2504:0.5653	6.816	0.23013	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	.	.	.	.	.	.	.	.	0.02632	931.33	45	chr19	55359385	.	C	T	931.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.013;DP=1099;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.5;ReadPosRankSum=-1.232;SOR=0.715	GT:AD:DP:GQ:PL	0/1:33,36:69:99:945,0,833	18	0	1	0
chr19	55484240	55484240	C	G	exonic	ZNF628	.	nonsynonymous SNV	ZNF628:NM_033113:exon3:c.C3047G:p.P1016R	.	423	1096	3	0	0	3	0.00136674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.0230543345231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.024	0.56640	D	.	.	.	.	.	.	0.034708	0.24735	U	0.266230	1	0.08975	N	1.67	0.42885	L	3.0	0.09167	T	-1.5	0.36586	N	0.302	0.34120	-0.9985	0.30339	T	0.016	0.06329	T	10	0.10101971	0.18432	T	0.023054	0.45999	T	0.050	0.13987	.	.	0.043077524339	0.03247	0.15425902428970864	0.15346	.	.	0.780514836311	0.79005	T	0.005158	0.04603	T	-0.251259	0.13944	T	-0.598692	0.12921	T	0.271559327840805	0.23814	T	0.507449	0.16094	T	0.043176055	0.06682	0.07789542	0.17397	0.043176055	0.06682	0.07789542	0.17396	-5.629	0.43057	T	.	.	0.148	0.34580	B	.;.	.;.	2.504472	0.32334	19.01	0.89995582181201272	0.19286	0.08623	0.14526	N	AEFDGBHCI	0.040802	0.06120	N	-1.04252303017362	0.07735	0.3603283	-1.05056904577653	0.08695	0.4287994	0.999994256390085	0.74766	0.65757	0.49021	0	0.706955	0.78570	0	0.459711	0.06710	0	0.322989	0.05693	1	.	.	3.48	2.44	0.28875	0.991000	0.29255	4.525000	0.43702	0.458000	0.21545	0.001000	0.13787	0.415000	0.24778	0.013000	0.09966	0.0:0.8659:0.0:0.1341	6.754	0.22689	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	.	.	.	.	.	.	.	.	0.02632	536.33	44	chr19	55484240	.	C	G	536.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.301;DP=776;ExcessHet=0;FS=3.91;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.12;ReadPosRankSum=1.35;SOR=0.976	GT:AD:DP:GQ:PL	0/1:31,22:53:99:550,0,897	18	0	1	0
chr19	55486564	55486564	G	C	exonic	NAT14	.	nonsynonymous SNV	NAT14:NM_020378:exon3:c.G229C:p.V77L	.	406	1113	3	0	0	3	0.0013459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.0164794337621	.	.	3.539e-05	0	0	0	0	3.272e-05	0.0026	0	1.29e-05	2	154602	rs561771561	5.583e-06	6.156e-06	6.942e-06	4.21e-06	0.0002	2.4e-06	1.74e-06	1.32e-06	9.6e-07	0	0	0	0	0	0.0002	4.521e-06	3.357e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.002077	0.37317	N	0.176912	0.90865	0.27554	N	-1.735	0.00332	N	.	.	.	0.99	0.01428	N	0.038	0.01203	-0.9945	0.31432	T	0.017	0.06855	T	9	0.019770592	0.00446	T	0.016479	0.37757	T	0.043	0.11576	0.246	0.18139	0.134241683229	0.13084	0.47360274471038727	0.47279	0.272789235297	0.29784	0.803345799446	0.82474	D	0.003902	0.03313	T	-0.33156	0.05994	T	-0.714039	0.05089	T	0.0235461437271733	0.01088	T	0.528747	0.17479	T	0.03382459	0.03677	0.027829427	0.00966	0.03382459	0.03677	0.027829427	0.00966	-2.574	0.06308	T	.	.	0.092	0.13409	B	.	.	-0.657482	0.01423	0.084	0.69957871779934611	0.09139	0.02703	0.07351	N	AEFDBHCI	0.056389	0.10421	N	-1.12802719416376	0.06149	0.2822918	-1.02850573763821	0.09161	0.4542422	0.999994903284081	0.74766	0.741868	0.97996	0	0.550933	0.16991	0	0.774882	0.98623	0	0.372554	0.06265	0	.	.	3.41	-0.405	0.11775	-0.347000	0.07799	0.017000	0.13531	-0.165000	0.11486	0.001000	0.13787	0.000000	0.08366	0.211000	0.22211	0.3278:0.3474:0.3248:0.0	3.592	0.07541	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	.	.	.	.	.	.	.	.	0.02632	1773.33	34	chr19	55486564	.	G	C	1773.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.542;DP=710;ExcessHet=0;FS=3.721;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=21.11;ReadPosRankSum=1.48;SOR=0.907	GT:AD:DP:GQ:PL	0/1:18,66:84:99:1787,0,260	18	0	1	0
chr19	56823607	56823607	G	A	exonic	PEG3;ZIM2	.	nonsynonymous SNV	PEG3:NM_001146184:exon4:c.C467T:p.S156L,PEG3:NM_001146185:exon4:c.C89T:p.S30L,PEG3:NM_001146187:exon4:c.C89T:p.S30L,PEG3:NM_001369717:exon4:c.C467T:p.S156L,PEG3:NM_001369721:exon4:c.C89T:p.S30L,PEG3:NM_001369725:exon4:c.C89T:p.S30L,PEG3:NM_001369733:exon4:c.C89T:p.S30L,PEG3:NM_001369735:exon4:c.C89T:p.S30L,PEG3:NM_001369736:exon4:c.C89T:p.S30L,ZIM2:NM_001369772:exon4:c.C89T:p.S30L,ZIM2:NM_001369773:exon4:c.C89T:p.S30L,ZIM2:NM_001369774:exon4:c.C89T:p.S30L,ZIM2:NM_015363:exon4:c.C89T:p.S30L,ZIM2:NM_001146326:exon5:c.C89T:p.S30L,ZIM2:NM_001146327:exon5:c.C89T:p.S30L,PEG3:NM_001369718:exon5:c.C467T:p.S156L,PEG3:NM_001369719:exon5:c.C467T:p.S156L,PEG3:NM_001369722:exon5:c.C89T:p.S30L,PEG3:NM_001369727:exon5:c.C89T:p.S30L,PEG3:NM_001369729:exon5:c.C89T:p.S30L,PEG3:NM_001369730:exon5:c.C89T:p.S30L,PEG3:NM_001369732:exon5:c.C89T:p.S30L,PEG3:NM_001369734:exon5:c.C89T:p.S30L,PEG3:NM_001369737:exon5:c.C89T:p.S30L,PEG3:NM_001369739:exon5:c.C89T:p.S30L,ZIM2:NM_001369770:exon5:c.C89T:p.S30L,ZIM2:NM_001369771:exon5:c.C89T:p.S30L,PEG3:NM_006210:exon5:c.C467T:p.S156L,PEG3:NM_001369723:exon6:c.C89T:p.S30L,PEG3:NM_001369726:exon6:c.C89T:p.S30L,PEG3:NM_001369728:exon6:c.C89T:p.S30L,PEG3:NM_001369731:exon6:c.C89T:p.S30L,PEG3:NM_001369738:exon6:c.C89T:p.S30L,PEG3:NM_001369720:exon7:c.C89T:p.S30L,PEG3:NM_001369724:exon7:c.C89T:p.S30L	.	431	1078	13	0	0	13	0.00599355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.00624498087809	.	.	4.119e-05	0	0	0	0	7.493e-05	0	0	3.23e-05	5	154602	rs755484455	1.642e-05	1.642e-05	1.089e-05	2.2e-05	0.0009	1.111e-05	9.33e-06	0.0003	0.0002	0	0	0	0	0	0.0009	1.439e-05	4.967e-05	0	6.574e-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	0.084	0.32929	T	0.02	0.58613	D	0.421	0.35387	B	0.058	0.26451	B	0.789228	0.06702	N	1.122580	.	.	.	0.895	0.22405	L	3.42	0.05507	T	-1.1	0.28497	N	0.298	0.36569	-1.0234	0.22606	T	0.015	0.05897	T	9	0.09253797	0.16302	T	0.006245	0.16376	T	0.073	0.21317	.	.	0.0884992946249	0.08302	0.0027620288402368035	0.00257	0.0489332366469	0.05346	0.349157214165	0.17798	T	0.104175	0.42404	T	-0.408109	0.02047	T	-0.608662	0.12094	T	0.468045651912689	0.31459	T	0.817418	0.47426	T	0.06017957	0.12318	0.08917603	0.20839	0.06017957	0.12317	0.08917603	0.20839	-3.835	0.38830	T	.	.	0.164	0.40714	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.093919	0.41671	21.4	0.99276347544814814	0.57730	0.25664	0.22766	N	AEFBHCI	0.155510	0.28072	N	-0.768594393973373	0.14133	0.7015874	-0.785991541153489	0.14838	0.7774134	0.699630771453608	0.22683	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	4.29	3.24	0.36257	3.557000	0.53487	.	.	0.676000	0.76740	0.036000	0.20778	0.999000	0.35428	0.003000	0.05239	0.0:0.0:0.7924:0.2076	9.651	0.39062	975	0.05339	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000518	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1456.33	34	chr19	56823607	.	G	A	1456.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.938;DP=798;ExcessHet=0;FS=1.373;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.55;ReadPosRankSum=0.223;SOR=0.546	GT:AD:DP:GQ:PL	0/1:78,60:138:99:1470,0,2122	18	0	1	0
chr19	57506358	57506358	G	A	exonic	ZNF773	.	nonsynonymous SNV	ZNF773:NM_001304334:exon4:c.G260A:p.G87D,ZNF773:NM_198542:exon4:c.G263A:p.G88D	.	427	1093	2	0	0	2	0.000914077	0.0005	0.12	.	3949290	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.036	0.0017366247355	.	.	8.54e-06	0	0	0	0	0	0	7.262e-05	6.5e-06	1	154602	rs767450098	4.141e-05	4.104e-05	4.119e-05	4.162e-05	9.466e-05	3.273e-05	2.945e-05	4.66e-05	3.431e-05	3.074e-05	2.426e-05	0	2.523e-05	0	0	4.424e-05	0	9.466e-05	1.314e-05	1.313e-05	0	2.689e-05	0.0002	2.18e-06	8.2e-07	.	.	2.413e-05	0	0	0	0	0	0	0	0	0.0002	0.353	0.12187	T	0.48	0.13441	T	0.973	0.61523	D	0.791	0.57754	P	.	.	.	.	0.998986	0.21738	N	2.27	0.64531	M	3.34	0.06063	T	0.28	0.04233	N	0.232	0.26111	-1.0209	0.23421	T	0.027	0.11485	T	8	0.1651817	0.30882	T	0.001737	0.02934	T	0.036	0.09122	0.418	0.45873	0.488266720666	0.48458	0.0764676486864788	0.07582	0.341655650433	0.36107	0.290213406086	0.08953	T	0.003435	0.02839	T	-0.384022	0.02938	T	-0.541089	0.18189	T	0.110712732721492	0.13497	T	0.165783	0.01535	T	0.067503415	0.14625	0.085357025	0.19702	0.067503415	0.14624	0.085357025	0.19702	-5.627	0.43039	T	.	.	0.120	0.24666	B	.;.	.;.	2.581841	0.33479	19.35	0.96348313334883862	0.29506	0.08103	0.14072	N	AEFDBI	0.036215	0.04789	N	-0.485571324871355	0.22553	1.205046	-0.763757570055485	0.15385	0.8088664	0.0103067303582513	0.12002	0.562547	0.31514	0	0.546412	0.12157	0	0.608884	0.39905	0	0.491896	0.07777	0	.	.	1.25	0.115	0.13949	2.243000	0.42765	.	.	0.363000	0.20128	0.795000	0.29657	0.927000	0.28453	0.200000	0.21896	0.0:0.0:0.7147:0.2853	6.524	0.21488	982	0.03397	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1179.33	35	chr19	57506358	.	G	A	1179.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.421;DP=754;ExcessHet=0;FS=3.353;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.56;ReadPosRankSum=-0.767;SOR=0.368	GT:AD:DP:GQ:PL	0/1:38,43:81:99:1193,0,1045	18	0	1	0
chr20	845282	845282	C	T	exonic	FAM110A	.	nonsynonymous SNV	FAM110A:NM_031424:exon1:c.C478T:p.P160S,FAM110A:NM_001042353:exon2:c.C478T:p.P160S,FAM110A:NM_001289146:exon2:c.C478T:p.P160S,FAM110A:NM_001289147:exon2:c.C478T:p.P160S,FAM110A:NM_207121:exon2:c.C478T:p.P160S,FAM110A:NM_001289145:exon3:c.C478T:p.P160S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.0221278097946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.788e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.30097	T	0.018	0.59732	D	0.958	0.54977	D	0.441	0.45749	B	0.001529	0.38731	N	0.158685	0.840658	0.28635	N	1.935	0.51832	L	1.38	0.34050	T	-0.76	0.21215	N	0.251	0.28381	-1.0690	0.09634	T	0.070	0.28609	T	10	0.22794566	0.39687	T	0.022128	0.44986	T	0.089	0.25827	0.199	0.11247	0.196089822672	0.19227	0.540557252621337	0.53980	0.966414129354	0.73198	0.712128937244	0.68901	T	0.017005	0.13947	T	-0.158708	0.26960	T	-0.465749	0.25976	T	0.503723680973053	0.32765	D	0.754725	0.37732	T	0.07910173	0.18053	0.08979197	0.21019	0.07910173	0.18053	0.08979197	0.21018	-5.026	0.37121	T	0.1517083005833212	0.17917	0.107	0.21877	B	.;.;.;.;.	.;.;.;.;.	2.628717	0.34181	19.55	0.87659205524899353	0.17387	0.73073	0.35749	D	AEFDBCI	0.428847	0.49220	N	-0.0309482632179858	0.40458	2.402945	-0.020421943031416	0.38793	2.290688	0.999999475089872	0.74766	0.608966	0.35542	0	0.587265	0.34161	0	0.64067	0.45733	0	0.505526	0.08623	0	.	.	4.74	4.74	0.59717	3.691000	0.54452	4.840000	0.45276	0.548000	0.25860	0.992000	0.37556	1.000000	0.68203	0.475000	0.28453	0.0:1.0:0.0:0.0	16.450	0.83816	934	0.15400	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1082.33	38	chr20	845282	.	C	T	1082.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.148;DP=802;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.76;ReadPosRankSum=-0.886;SOR=0.629	GT:AD:DP:GQ:PL	0/1:52,40:92:99:1096,0,1506	18	0	1	0
chr20	3750191	3750191	G	A	exonic	HSPA12B	.	nonsynonymous SNV	HSPA12B:NM_001318322:exon10:c.G1007A:p.R336Q,HSPA12B:NM_001197327:exon11:c.G1262A:p.R421Q,HSPA12B:NM_052970:exon11:c.G1265A:p.R422Q	.	0	225	1	0	0	1	0.00221729	.	.	.	2719754	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.138	0.0156866545134	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1489090547	8.925e-06	8.893e-06	6.824e-06	1.105e-05	5.817e-05	4.98e-06	3.84e-06	2.199e-05	1.434e-05	0	0	0	2.529e-05	0	0	2.705e-06	6.655e-05	5.817e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.51853	D	0.082	0.41573	T	0.866	0.47610	P	0.478	0.47030	P	0.005276	0.32945	N	0.269456	0.692456	0.33340	D	2.3	0.65703	M	1.56	0.43279	T	-1.25	0.31576	N	0.509	0.54059	-0.8685	0.50642	T	0.125	0.42883	T	10	0.32643828	0.49941	T	0.015687	0.36562	T	0.138	0.37187	0.513	0.61153	0.700068348732	0.69747	0.6160720834332996	0.61539	0.928872029413	0.71747	0.613303482533	0.54784	T	0.015308	0.16359	T	-0.0970849	0.36908	T	-0.356961	0.38403	T	0.870269358158112	0.52018	D	0.970903	0.89563	D	0.12719645	0.29772	0.10347139	0.24828	0.12719645	0.29772	0.10347139	0.24828	-9.221	0.69108	D	.	.	0.103	0.28920	B	.;.	.;.	5.087920	0.84947	28.5	0.99916290077943781	0.98449	0.94951	0.62900	D	AEFDBHCI	0.569616	0.57432	D	0.33891417708349	0.58157	3.986383	0.411076200294471	0.62254	4.437765	0.99999999999202	0.74766	0.652421	0.48094	0	0.550933	0.16991	0	0.64067	0.45733	0	0.683535	0.66460	0	.	.	5.33	5.33	0.75683	4.668000	0.61262	8.629000	0.77845	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0897:0.0:0.9103:0.0	10.374	0.43256	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	.	.	.	.	.	.	.	.	0.02632	1211.33	35	chr20	3750191	.	G	A	1211.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.193;DP=755;ExcessHet=0;FS=1.967;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.94;ReadPosRankSum=1.06;SOR=0.492	GT:AD:DP:GQ:PL	0/1:29,47:76:99:1225,0,702	18	0	1	0
chr20	3803192	3803192	G	C	exonic	CDC25B	.	nonsynonymous SNV	CDC25B:NM_001287524:exon9:c.G766C:p.G256R,CDC25B:NM_001287518:exon12:c.G1069C:p.G357R,CDC25B:NM_001287522:exon12:c.G883C:p.G295R,CDC25B:NM_021872:exon12:c.G1219C:p.G407R,CDC25B:NM_001287516:exon13:c.G1150C:p.G384R,CDC25B:NM_001287517:exon13:c.G1108C:p.G370R,CDC25B:NM_001287519:exon13:c.G1006C:p.G336R,CDC25B:NM_001287520:exon13:c.G1006C:p.G336R,CDC25B:NM_004358:exon13:c.G1300C:p.G434R,CDC25B:NM_021873:exon13:c.G1342C:p.G448R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.774	0.123202022054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0011	0.0007	0.0006	0.0008	0.0006	0.0006	0.0007	0.0007	0.0006	0	0.0002	7.607e-05	0	0.0002	0.0008	0.0004	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.085	0.87354	M	1.81	0.25182	T	-7.58	0.95276	D	0.931	0.98268	-0.6717	0.61752	T	0.200	0.55640	T	10	0.98157537	0.98189	D	0.123202	0.80433	D	0.774	0.92419	0.92	0.98568	0.736929849786	0.73457	0.9132364924811667	0.91297	2.14713465814	0.95289	0.696103453636	0.66582	T	0.201973	0.83660	T	0.280949	0.81396	D	0.165788	0.81157	D	0.999002754688263	0.95858	D	0.989968	0.96869	D	0.92810935	0.94047	0.8602535	0.92196	0.92810935	0.94048	0.8602535	0.92197	-11.248	0.81537	D	.	.	0.994	0.95995	P	.;.;.;.;.	.;.;.;.;.	5.603180	0.92472	32	0.99900572155913103	0.97275	0.97177	0.73143	D	AEFGBCI	0.864053	0.78274	D	0.851518238386656	0.89196	9.872593	0.791774268680612	0.89217	9.884684	0.999999999996727	0.74766	0.706548	0.73137	0	0.696144	0.67643	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.24	5.24	0.72863	7.420000	0.79394	11.730000	0.94979	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.879000	0.42020	0.0:0.0:1.0:0.0	16.698	0.85199	809	0.43032	Rhodanese-like domain|Rhodanese-like domain|Rhodanese-like domain;Rhodanese-like domain|Rhodanese-like domain|Rhodanese-like domain;Rhodanese-like domain|Rhodanese-like domain|Rhodanese-like domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4118	3174.68	176	chr20	3803192	.	G	C	3174.68	.	AC=14;AF=0.412;AN=34;BaseQRankSum=-1.235;DP=2216;ExcessHet=17.0548;FS=208.448;InbreedingCoeff=-0.6531;MLEAC=15;MLEAF=0.441;MQ=60;MQRankSum=0;QD=2.1;ReadPosRankSum=2.04;SOR=13.387	GT:AD:DP:GQ:PL	0/1:75,38:123:93:93,0,1344	3	0	14	2
chr20	3889480	3889480	G	T	exonic	PANK2	.	nonsynonymous SNV	PANK2:NM_001324192:exon1:c.G380T:p.G127V,PANK2:NM_153638:exon1:c.G380T:p.G127V	HARP syndrome, Autosomal recessive;Neurodegeneration with brain iron accumulation 1, Autosomal recessive	2	1488	32	0	0	32	0.0106383	.	.	.	270080	PANK2-related_disorder|not_provided|Pigmentary_pallidal_degeneration|not_specified	.|MedGen:C3661900|MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200,Orphanet:157850|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.461	.	.	0.00319489	0.0046	0	0.0019	0	0	0.0009	0	0.0140	0.0011319	175	154602	rs528149001	0.0008	0.0008	0.0006	0.0010	0.0083	0.0008	0.0008	0.0077	0.0075	0.0002	0.0003	0.0005	0	0	0.0052	0.0004	0.0011	0.0083	0.0007	0.0007	0.0006	0.0007	0.0095	0.0006	0.0005	0.0073	0.0066	7.213e-05	0	0.0007	0	0	0	0	0.0006	0.0019	0.0095	0.005	0.63226	D	0.02	0.92824	D	0.614	0.39766	P	0.435	0.45529	B	0.007549	0.31331	N	0.149705	0.999904	0.81001	D	0	0.06538	N	-4.65	0.97938	D	-0.51	0.15986	N	0.431	0.49965	0.759	0.93903	D	0.812	0.93676	D	10	0.008071929	0.00183	T	.	.	.	0.461	0.75822	.	.	0.977251892827	0.97700	0.1533525734882303	0.15257	0.618344074146	0.56229	0.802133798599	0.82288	T	0.223434	0.58758	T	-0.159559	0.26827	T	0.00315517	0.70540	D	0.0831932129315805	0.10390	T	0.79572	0.43862	T	0.21505176	0.43928	0.31713855	0.57690	0.23967786	0.46861	0.25087205	0.50685	-4.738	0.33860	T	.	.	0.137	0.33958	B	.;.	.;.	3.292699	0.45166	22.1	0.99225521608074152	0.56057	0.87317	0.46819	D	AEFGBHCIJ	0.231275	0.35453	N	0.141082686965267	0.48390	3.051896	0.261891049211992	0.53330	3.502367	0.999999999999993	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.73	4.73	0.59485	2.080000	0.41211	3.420000	0.38245	0.655000	0.54021	0.995000	0.38783	1.000000	0.68203	0.973000	0.55318	0.0:0.0:1.0:0.0	13.455	0.60645	668	0.61153	.;.	.	.	.	.	.	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	0.008359	0.000000	0.004178	0.000000	0.000000	0.017544	0.038961	0.000000	0.05263	2507.83	36	chr20	3889480	.	G	T	2507.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.759;DP=862;ExcessHet=0.119;FS=4.63;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=15.11;ReadPosRankSum=0.423;SOR=1.056	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:41,47:88:99:0|1:3889477_G_C:1174,0,988:3889477	17	0	2	0
chr20	3889666	3889666	C	G	exonic	PANK2	.	nonsynonymous SNV	PANK2:NM_001324192:exon1:c.C566G:p.S189C,PANK2:NM_153638:exon1:c.C566G:p.S189C	HARP syndrome, Autosomal recessive;Neurodegeneration with brain iron accumulation 1, Autosomal recessive	1	1520	1	0	0	1	0.000328839	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.372	0.948870009286	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.955e-07	6.84e-07	0	1.399e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.673e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.018	0.59732	D	0.975	0.58077	D	0.62	0.51382	P	0.150885	0.17972	N	0.554792	0.910819	0.81001	D	0	0.06538	N	-4.35	0.97292	D	-1.18	0.30140	N	0.423	0.46274	0.792	0.94306	D	0.796	0.93082	D	10	0.46633118	0.59592	T	0.94887	0.99647	D	0.372	0.69102	0.32	0.29902	0.976594618597	0.97634	0.2647698544784492	0.26389	0.767720231024	0.64598	0.837414801121	0.87699	D	0.256528	0.62745	T	0.142294	0.68542	D	-0.0333806	0.68144	D	0.497982680797577	0.32556	T	0.738026	0.35555	T	0.18352444	0.39624	0.11129043	0.26844	0.18352444	0.39624	0.11129043	0.26843	-5.169	0.48309	T	.	.	0.076	0.09094	B	.;.	.;.	3.967101	0.58223	24.0	0.9905779034837684	0.51413	0.73732	0.36065	D	AEFDBHCIJ	0.121299	0.23589	N	0.123175608941627	0.47546	2.978759	0.146929475881368	0.46981	2.935236	0.999999999994707	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.581474	0.35302	0	.	.	4.58	4.58	0.56077	1.362000	0.33752	4.391000	0.43214	0.493000	0.22426	0.825000	0.30060	1.000000	0.68203	0.719000	0.34739	0.0:1.0:0.0:0.0	13.049	0.58353	668	0.61153	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	858.33	35	chr20	3889666	.	C	G	858.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.224;DP=750;ExcessHet=0;FS=1;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.84;ReadPosRankSum=1.37;SOR=0.546	GT:AD:DP:GQ:PL	0/1:26,36:62:99:872,0,587	18	0	1	0
chr20	8741524	8741524	A	G	exonic	PLCB1	.	nonsynonymous SNV	PLCB1:NM_015192:exon23:c.A2474G:p.K825R,PLCB1:NM_182734:exon23:c.A2474G:p.K825R	Epileptic encephalopathy, early infantile, 12, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	533760	Developmental_and_epileptic_encephalopathy,_12	MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.091	0.00457304164355	0.0002	.	0.0002	9.636e-05	0	0	0	0.0003	0	6.112e-05	0.0002005	31	154602	rs146646749	0.0003	0.0003	0.0004	0.0003	0.0009	0.0003	0.0003	0.0004	0.0004	2.987e-05	2.236e-05	0	0	1.872e-05	0.0009	0.0004	0.0002	2.319e-05	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0001	0.0003	0.0003	7.235e-05	0	0	0	0	0	0	0.0004	0	0	0.254	0.25154	T	0.305	0.32249	T	0.005	0.12996	B	0.012	0.16012	B	0.000000	0.84330	D	0.048550	0.57997	0.31108	N	1.765	0.45800	L	2.09	0.20122	T	-1.35	0.38540	N	0.142	0.15469	-1.0519	0.13872	T	0.037	0.16029	T	10	0.07836741	0.12482	T	0.004573	0.11283	T	0.091	0.26358	.	.	0.503923442013	0.50028	0.19388107218960798	0.19306	0.260481724346	0.28615	0.600746273994	0.53009	T	0.311012	0.69050	T	-0.424557	0.01601	T	-0.525657	0.19724	T	0.0703764855861664	0.08703	T	0.815918	0.58915	T	0.08356227	0.19303	0.13035508	0.31325	0.08356227	0.19302	0.13035508	0.31324	-5.87	0.45247	T	0.16933282508166836	0.21227	0.081	0.08465	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.116257	0.42050	21.5	0.99318036424143052	0.59279	0.94375	0.60965	D	AEFBI	0.471336	0.51692	N	-0.101582745438838	0.37323	2.169847	0.0927545220034204	0.44184	2.705066	0.163095230336259	0.17623	0.706548	0.73137	0	0.547309	0.14657	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.6	5.6	0.84997	4.551000	0.60450	11.169000	0.87908	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.856000	0.40543	0.7819:0.0:0.0746:0.1435	6.162	0.19584	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	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1883.33	34	chr20	8741524	.	A	G	1883.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.527;DP=760;ExcessHet=0;FS=7.419;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.08;ReadPosRankSum=0.018;SOR=0.776	GT:AD:DP:GQ:PL	0/1:67,77:144:99:1897,0,1664	18	0	1	0
chr20	13279746	13279746	G	A	exonic	ISM1	.	nonsynonymous SNV	ISM1:NM_080826:exon3:c.G491A:p.R164K	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.0236031763852	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.577	0.06049	T	0.467	0.12351	T	0.824	0.45836	P	0.3	0.41053	B	0.000000	0.84330	D	0.041957	0.999926	0.81001	D	1.895	0.50365	L	0.91	0.44856	T	-0.42	0.14193	N	0.496	0.52918	-1.0538	0.13359	T	0.113	0.40354	T	10	0.2957555	0.47143	T	0.023603	0.46567	T	0.098	0.28162	0.302	0.27003	0.215869574891	0.21205	0.4600433435047112	0.45922	0.0376800308232	0.03997	0.426574766636	0.28740	T	0.023893	0.18158	T	-0.0403372	0.45900	T	-0.295718	0.45175	T	0.437812414162807	0.30348	T	0.778122	0.41194	T	0.28054386	0.51101	0.30801672	0.56822	0.28054386	0.51100	0.30801672	0.56821	-3.972	0.23383	T	.	.	0.091	0.13127	B	.	.	3.268526	0.44732	22.0	0.87899243788439974	0.17565	0.91436	0.53530	D	AEFDBI	0.528530	0.55001	D	0.364333377170254	0.59500	4.129969	0.465599763861432	0.65724	4.860185	0.999999931167125	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.83	5.83	0.93059	4.570000	0.60586	11.884000	0.98910	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	20.118	0.97949	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	.	.	.	.	.	.	.	.	0.02632	2457.33	38	chr20	13279746	.	G	A	2457.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.26;DP=872;ExcessHet=0;FS=5.011;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.54;ReadPosRankSum=1.41;SOR=1.037	GT:AD:DP:GQ:PL	0/1:101,95:196:99:2471,0,2642	18	0	1	0
chr20	18543156	18543156	G	A	exonic	SEC23B	.	nonsynonymous SNV	SEC23B:NM_001172745:exon14:c.G1649A:p.R550Q,SEC23B:NM_001172746:exon14:c.G1595A:p.R532Q,SEC23B:NM_006363:exon14:c.G1649A:p.R550Q,SEC23B:NM_032985:exon14:c.G1649A:p.R550Q,SEC23B:NM_032986:exon14:c.G1649A:p.R550Q	Cowden syndrome 7, Autosomal dominant;Dyserythropoietic anemia, congenital, type II, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	257335	Congenital_dyserythropoietic_anemia,_type_II|SEC23B-related_disorder|Cowden_syndrome_7|not_provided	MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100,Orphanet:98873|.|MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858,Orphanet:201|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.803	.	0.0060	0.00499201	0.0014	0.0152	0.0003	0	0	4.495e-05	0	6.056e-05	0.001313	203	154602	rs111572459	0.0004	0.0004	0.0005	0.0004	0.0155	0.0004	0.0004	0.0144	0.0140	0.0155	0.0005	0	0	0	0.0003	2.698e-05	0.0009	8.116e-05	0.0043	0.0043	0.0046	0.0041	0.0153	0.0040	0.0039	0.0143	0.0139	0.0153	0	0.0011	0	0	0	0	4.41e-05	0.0014	0	0.001	0.78490	D	0.03	0.54159	D	0.978	0.58756	D	0.832	0.59730	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.875	0.83380	M	-2.49	0.89145	D	-3.78	0.72594	D	0.836	0.83473	0.410	0.89252	D	0.617	0.86460	D	10	0.012790948	0.00274	T	.	.	.	0.803	0.93582	.	.	0.981089762561	0.98088	0.5964588528513464	0.59575	0.56074919768	0.52593	0.782165288925	0.79254	T	0.223348	0.58747	T	-0.155338	0.27479	T	0.0164158	0.71398	D	0.089579906832074	0.11168	T	0.993751	0.97946	D	0.6972273	0.77905	0.73107684	0.84109	0.7596531	0.81434	0.7095747	0.82871	-11.274	0.81140	D	0.6054290672613798	0.67267	0.680	0.80046	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.677614	0.92976	33	0.99951196398607001	0.99944	0.99051	0.90508	D	AEFBI	0.938335	0.93739	D	0.854462577839099	0.89360	9.940096	0.78923011248461	0.89035	9.812444	0.999999996785651	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.4	4.4	0.52402	9.968000	0.99102	11.821000	0.97240	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:0.0:1.0:0.0	16.166	0.81573	544	0.72685	Sec23/Sec24, helical domain;Sec23/Sec24, helical domain;Sec23/Sec24, helical domain;Sec23/Sec24, helical domain;Sec23/Sec24, helical domain;Sec23/Sec24, helical domain;Sec23/Sec24, helical 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	0.010101	0.001359	0.000000	0.000000	0.008621	0.000000	0.003788	0.02632	1144.33	33	chr20	18543156	.	G	A	1144.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.11;DP=710;ExcessHet=0;FS=3.356;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.49;ReadPosRankSum=-1.237;SOR=1.131	GT:AD:DP:GQ:PL	0/1:41,38:79:99:1158,0,1125	18	0	1	0
chr20	23637652	23637652	G	C	exonic	CST3	.	nonsynonymous SNV	CST3:NM_000099:exon1:c.C211G:p.R71G,CST3:NM_001288614:exon1:c.C211G:p.R71G	Cerebral amyloid angiopathy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.327	0.0376390328082	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs11542364	1.453e-06	2.052e-06	1.434e-06	1.473e-06	0.0002	2.4e-07	9e-08	.	.	0	0	0	0	0	0.0002	9.339e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.39097	T	0.024	0.56640	D	1.0	0.90584	D	0.997	0.86255	D	0.000249	0.46924	D	0.147583	0.99857	0.45107	D	2.905	0.84014	M	1.68	0.27184	T	-5.75	0.87760	D	0.581	0.62018	-0.8805	0.49722	T	0.146	0.46950	T	10	0.76754254	0.76822	D	0.037639	0.57738	D	0.327	0.64926	0.713	0.84872	0.440604514059	0.43682	0.7837560347771501	0.78326	1.47327362475	0.86575	0.652187347412	0.60297	T	0.312734	0.68453	T	-0.00867535	0.50450	T	-0.250238	0.49793	T	0.995801150798798	0.88102	D	0.756024	0.37907	T	0.97368973	0.98593	0.94311076	0.97969	0.97368973	0.98593	0.94311076	0.97970	-8.643	0.65372	D	0.6395323822536882	0.71003	0.778	0.76709	P	.;.;.	.;.;.	5.065359	0.84448	28.3	0.9957085000544158	0.72379	0.89315	0.49705	D	ALL	0.825544	0.74521	D	0.365942936556467	0.59587	4.139243	0.221293076720113	0.51029	3.289212	0.99999999999998	0.74766	0.72623	0.87236	0	0.52208	0.09955	0	0.594344	0.31042	0	0.56214	0.19341	0	.	.	3.92	3.92	0.44525	3.209000	0.50824	3.240000	0.36960	0.511000	0.23309	0.982000	0.35529	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	11.331	0.48714	940	0.13648	Cystatin domain|Cystatin domain|Cystatin domain;Cystatin domain|Cystatin domain|Cystatin domain;Cystatin domain|Cystatin domain|Cystatin 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	.	.	.	.	.	.	.	.	0.02632	1194.33	35	chr20	23637652	.	G	C	1194.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.036;DP=756;ExcessHet=0;FS=5.828;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.57;ReadPosRankSum=1.25;SOR=0.569	GT:AD:DP:GQ:PL	0/1:60,53:113:99:1208,0,1335	18	0	1	0
chr20	23750730	23750730	C	T	exonic	CST1	.	nonsynonymous SNV	CST1:NM_001898:exon1:c.G137A:p.R46H	.	425	1092	5	0	0	5	0.00228415	.	.	.	3654819	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.016	0.0014985355849	.	0.000199681	0.0002	0	0	0	0	0.0001	0	0.0009	0.0001552	24	154602	rs572086468	0.0001	0.0001	7.895e-05	0.0001	0.0012	9.94e-05	9.348e-05	0.0010	0.0009	2.987e-05	6.708e-05	0	0	1.872e-05	0.0012	4.227e-05	0.0001	0.0012	0.0001	0.0001	0.0002	0.0001	0.0014	9.741e-05	8.256e-05	0.0007	0.0005	0.0001	0	0	0	0	0	0.0034	0.0001	0	0.0014	0.056	0.38185	T	0.206	0.27056	T	0.023	0.18885	B	0.014	0.16862	B	0.964994	0.08198	N	0.983219	1	0.08975	N	1.19	0.30124	L	1.75	0.26152	T	-2.43	0.53258	N	0.096	0.08088	-0.9836	0.34164	T	0.045	0.19437	T	10	0.025163978	0.00719	T	0.001499	0.02318	T	0.016	0.02506	.	.	0.0611884634855	0.05136	0.18937155416011522	0.18855	0.00297943625154	0.00257	0.293706059456	0.09466	T	0.026375	0.19532	T	-0.580078	0.00192	T	-0.678823	0.07056	T	0.0225257177841079	0.00968	T	0.306769	0.05902	T	0.052741386	0.09880	0.06278556	0.12336	0.052741386	0.09880	0.06278556	0.12336	-4.994	0.36775	T	.	.	0.102	0.17911	B	.;.	.;.	0.238057	0.06184	2.635	0.94436655549812709	0.24855	0.00070	0.00494	N	AEFDBI	0.017732	0.00486	N	-1.47963471319756	0.01994	0.08759602	-1.62429769921223	0.01514	0.06855978	0.00627083519323068	0.11171	0.615465	0.37627	0	0.573888	0.26702	0	0.693144	0.63139	0	0.655142	0.61905	0	.	.	2.02	-4.04	0.03741	-0.358000	0.07692	-6.187000	0.01471	-2.418000	0.00289	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7116:0.0:0.2884	8.108	0.30061	964	0.07719	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	1	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.000000	0.02632	3619.33	35	chr20	23750730	.	C	T	3619.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.16;DP=1008;ExcessHet=0;FS=0.952;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.03;ReadPosRankSum=-0.053;SOR=0.78	GT:AD:DP:GQ:PL	0/1:123,135:258:99:3633,0,2877	18	0	1	0
chr20	31934705	31934705	C	T	exonic	TTLL9	.	nonsynonymous SNV	TTLL9:NM_001367620:exon9:c.C527T:p.T176M,TTLL9:NM_001008409:exon12:c.C821T:p.T274M	.	429	1036	56	1	0	58	0.02723	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	.	0.0039	0.00399361	0.0053	0.0010	0.0021	0	0.0005	0.0047	0.0074	0.0180	0.0046959	726	154602	rs200691468	0.0047	0.0047	0.0044	0.0050	0.0164	0.0046	0.0046	0.0157	0.0154	0.0004	0.0029	0.0040	2.52e-05	0.0009	0.0113	0.0043	0.0047	0.0164	0.0036	0.0036	0.0034	0.0038	0.0176	0.0033	0.0032	0.0146	0.0135	0.0008	0	0.0054	0.0029	0	0.0008	0.0102	0.0046	0.0052	0.0176	0.108	0.29420	T	0.216	0.29249	T	0.001	0.07471	B	0.002	0.06944	B	0.001119	0.40219	N	0.283944	1	0.81001	D	1.43	0.35840	L	3.27	0.06602	T	-0.61	0.18042	N	0.158	0.19190	-1.0497	0.14481	T	0.022	0.09467	T	10	0.0064346194	0.00146	T	.	.	.	0.024	0.04979	.	.	0.0297737177859	0.01360	0.2951237345348873	0.29425	0.122821276038	0.13838	0.521163880825	0.41790	T	0.058118	0.30755	T	-0.594801	0.00157	T	-0.613541	0.11699	T	0.0106329223297711	0.00149	T	0.441356	0.15758	T	0.026107183	0.01626	0.050683945	0.08003	0.026107183	0.01626	0.050683945	0.08003	4.277	0.00007	T	.	.	0.061	0.01126	B	.;.;.	.;.;.	2.420018	0.31114	18.64	0.97587682729551706	0.34775	0.30085	0.23991	N	AEFDBI	0.089796	0.18201	N	-0.472294161085949	0.22991	1.231543	-0.345653793126946	0.26643	1.473012	0.851944230173689	0.25061	0.497415	0.19182	0	0.547309	0.14657	0	0.573078	0.19857	0	0.542086	0.14980	0	.	.	5.09	2.76	0.31527	1.255000	0.32512	3.451000	0.38447	-0.108000	0.15293	1.000000	0.71638	1.000000	0.68203	0.895000	0.43227	0.0:0.2354:0.0:0.7646	8.488	0.32245	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	0.010121	0.005102	0.005435	0.002941	0.050000	0.025862	0.021605	0.000000	0.05263	1594.83	33	chr20	31934705	.	C	T	1594.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.28;DP=665;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=16.44;ReadPosRankSum=1.26;SOR=0.61	GT:AD:DP:GQ:PL	0/1:25,21:46:99:592,0,624	17	0	2	0
chr20	32093983	32093983	G	A	exonic	HCK	.	nonsynonymous SNV	HCK:NM_001172129:exon11:c.G1150A:p.V384I,HCK:NM_001172130:exon11:c.G1210A:p.V404I,HCK:NM_001172131:exon11:c.G1147A:p.V383I,HCK:NM_002110:exon11:c.G1213A:p.V405I,HCK:NM_001172132:exon12:c.G1153A:p.V385I,HCK:NM_001172133:exon12:c.G1150A:p.V384I	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.0102868870351	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1490535900	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.367	0.11659	T	0.38	0.15988	T	0.0	0.02946	B	0.002	0.10090	B	0.026375	0.25931	N	0.341443	1	0.08975	N	-0.115	0.04602	N	-1.63	0.82440	D	0.42	0.03352	N	0.12	0.11483	-0.9857	0.33663	T	0.215	0.57652	T	10	0.097780794	0.17634	T	0.010287	0.26654	T	0.196	0.47777	0.472	0.54699	0.203808441222	0.19973	0.10040487392163505	0.09971	.	.	0.462232530117	0.33616	T	0.157546	0.52804	T	-0.20173	0.20556	T	-0.527547	0.19532	T	0.29347562789917	0.24734	T	0.606339	0.22814	T	0.099707566	0.23535	0.092366755	0.21765	0.099707566	0.23535	0.092366755	0.21765	-4.337	0.28706	T	.	.	0.065	0.01909	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	-0.583787	0.01616	0.111	0.82074166270825999	0.14005	0.03279	0.08322	N	AEFBIJ	0.128734	0.24662	N	-1.50048753848248	0.01847	0.08100644	-1.54825882582418	0.01988	0.09081245	0.999995229121778	0.74766	0.693126	0.56070	0	0.659464	0.62310	0	0.658983	0.55881	0	0.63947	0.58350	0	.	.	4.54	-9.09	0.00613	-0.456000	0.06829	-1.328000	0.05705	-0.593000	0.04642	0.000000	0.06391	0.000000	0.08366	0.818000	0.38543	0.271:0.082:0.647:0.0	13.639	0.61707	444	0.79803	.;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;.;.;.;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1500.33	37	chr20	32093983	.	G	A	1500.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.19;DP=733;ExcessHet=0;FS=0.855;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.25;ReadPosRankSum=-0.061;SOR=0.545	GT:AD:DP:GQ:PL	0/1:35,52:87:99:1514,0,921	18	0	1	0
chr20	32316763	32316763	C	G	exonic	KIF3B	.	nonsynonymous SNV	KIF3B:NM_004798:exon5:c.C1637G:p.S546C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.199	0.0750618404262	.	.	2.486e-05	0	0	0	0	4.521e-05	0	0	1.94e-05	3	154602	rs780855149	7.525e-06	7.525e-06	8.168e-06	6.876e-06	0.0002	4.04e-06	2.95e-06	4.55e-06	3.32e-06	0	0	0	0	0	0.0002	8.993e-06	0	0	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	0.004	0.65419	D	0.026	0.55759	D	0.747	0.43174	P	0.497	0.47562	P	0.000005	0.62929	D	0.109676	1	0.81001	D	2.395	0.69210	M	-0.93	0.75215	T	-2.58	0.55662	D	0.414	0.45426	0.154	0.85131	D	0.538	0.82936	D	10	0.41364676	0.56394	T	0.075062	0.72196	D	0.199	0.48268	0.297	0.26202	0.848440554818	0.84698	0.19223422172020987	0.19141	1.24533256083	0.81657	0.785591959953	0.79773	T	0.533	0.83888	D	0.00573117	0.52443	T	-0.121887	0.61647	T	0.882779777050018	0.53291	D	0.864413	0.56163	D	0.38556585	0.59716	0.24931666	0.50500	0.38556585	0.59716	0.24931666	0.50499	-8.047	0.61390	D	.	.	0.089	0.11941	B	.	.	5.074203	0.84651	28.4	0.99153989817015098	0.53903	0.98856	0.87762	D	AEFDBI	0.897210	0.83913	D	0.649402161690149	0.76329	6.466585	0.642716830236985	0.78071	6.802731	0.999999999999295	0.74766	0.719381	0.83141	0	0.724815	0.89359	0	0.608884	0.39905	0	0.733575	0.97253	0	.	.	4.57	4.57	0.55860	7.905000	0.86479	7.669000	0.64672	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	17.907	0.88839	485	0.77085	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1328.33	34	chr20	32316763	.	C	G	1328.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.67;DP=720;ExcessHet=0;FS=3.991;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.44;ReadPosRankSum=0.773;SOR=0.354	GT:AD:DP:GQ:PL	0/1:46,46:92:99:1342,0,1292	18	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	.	.	.	.	.	.	.	.	0.4474	4376.86	158	chr20	34852409	.	G	C	4376.86	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-3.129;DP=2851;ExcessHet=31.086;FS=291.473;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=60;MQRankSum=0;QD=1.76;ReadPosRankSum=0.306;SOR=13.781	GT:AD:DP:GQ:PL	0/1:107,36:143:52:52,0,1994	2	0	17	0
chr20	34977991	34977991	C	T	exonic	MYH7B	.	nonsynonymous SNV	MYH7B:NM_020884:exon5:c.C112T:p.P38S	.	420	1094	8	0	0	8	0.00364299	.	.	.	2117156	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.106	0.0036606152999	.	.	0.0002	0	0	0	0	0.0001	0.0011	0.0009	0.0001617	25	154602	rs771694952	0.0002	0.0002	0.0001	0.0002	0.0029	0.0001	0.0001	0.0019	0.0015	2.987e-05	0	0	0	0	0.0029	5.935e-05	0.0003	0.0014	0.0001	0.0001	0.0001	0.0001	0.0023	7.087e-05	5.744e-05	0.0013	0.0010	0	0	0	0	0	0	0.0034	5.879e-05	0.0005	0.0023	0.706	0.04094	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-2.04	0.85703	D	-0.16	0.09460	N	0.162	0.17002	-0.8338	0.53055	T	0.302	0.67344	T	6	0.01699248	0.00360	T	0.003661	0.08433	T	0.106	0.30130	0.404	0.43573	0.419461527279	0.41563	0.3849137986949631	0.38406	0.157787249233	0.17821	0.28744417429	0.08551	T	0.607794	0.87525	D	-0.471076	0.00837	T	-0.494996	0.22868	T	0.0240126192102929	0.01147	T	0.417958	0.11033	T	0.1313266	0.30616	0.25857493	0.51592	0.08065491	0.18492	0.22262819	0.47113	-3.576	0.17510	T	.	.	0.075	0.07130	B	.;.	.;.	1.616304	0.20649	14.85	0.93099959838174873	0.22727	0.22895	0.21898	N	AEFDBI	0.169856	0.29672	N	-0.623561691055816	0.18237	0.9452615	-0.7751148618551	0.15106	0.7928329	0.992434443021422	0.32839	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	4.98	-1.57	0.08055	1.601000	0.36383	0.822000	0.21862	0.599000	0.40250	0.077000	0.22263	0.003000	0.18671	0.280000	0.24017	0.2786:0.396:0.0:0.3254	4.702	0.12213	625	0.65529	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.010101	0.000000	0.000000	0.000000	0.017241	0.000000	0.003788	0.02632	1838.33	33	chr20	34977991	.	C	T	1838.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.57;DP=789;ExcessHet=0;FS=0.647;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.72;ReadPosRankSum=-0.938;SOR=0.79	GT:AD:DP:GQ:PL	0/1:64,70:134:99:1852,0,1649	18	0	1	0
chr20	34996718	34996718	G	A	exonic	MYH7B	.	nonsynonymous SNV	MYH7B:NM_020884:exon30:c.G3352A:p.A1118T	.	399	1113	9	1	0	11	0.0049173	.	.	.	1364937	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.143	0.0261191235021	.	.	0.0003	0	8.718e-05	0	0	0.0002	0.0012	0.0010	0.000207	32	154602	rs774221345	0.0002	0.0002	0.0002	0.0003	0.0075	0.0002	0.0002	0.0057	0.0051	5.974e-05	0.0001	3.828e-05	0	0	0.0075	0.0001	0.0006	0.0015	0.0002	0.0002	0.0002	0.0002	0.0023	0.0001	0.0001	0.0013	0.0010	0	0	0.0003	0	0	0	0.0034	0.0001	0.0014	0.0023	0.025	0.47320	D	0.013	0.63109	D	.	.	.	.	.	.	0.438479	0.12657	N	0.647400	1	0.08975	N	.	.	.	-1.66	0.82715	D	-0.12	0.08809	N	0.163	0.17140	-0.6899	0.60913	T	0.310	0.68085	T	10	0.018741488	0.00411	T	0.026119	0.49051	D	0.143	0.38195	.	.	0.463586170655	0.45986	0.2873577937568905	0.28648	0.144541060222	0.16329	0.282088398933	0.07785	T	.	.	.	-0.458851	0.00999	T	-0.472417	0.25255	T	0.0211169056232798	0.00813	T	0.817118	0.47377	T	0.019424751	0.00472	0.055114843	0.09607	0.024583057	0.01305	0.0610174	0.11713	-5.642	0.43174	T	.	.	0.069	0.03231	B	.;.	.;.	1.347272	0.17547	13.23	0.98924024160424862	0.48620	0.14860	0.18623	N	AEFDBCI	0.082031	0.16605	N	-0.688883305002765	0.16338	0.8314626	-0.768695754995424	0.15263	0.801897	0.967617757729535	0.28990	0.580535	0.33130	0	0.379588	0.06130	0	0.576033	0.28219	0	0.711	0.71501	0	.	.	4.54	2.09	0.26154	0.179000	0.16653	0.963000	0.23005	0.671000	0.69459	0.001000	0.13787	0.000000	0.08366	0.140000	0.19946	0.2757:0.21:0.374:0.1403	1.085	0.01547	616	0.66398	Myosin tail;Myosin tail	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007056	0.000000	0.001359	0.026316	0.000000	0.025862	0.000000	0.003817	0.02632	1403.33	38	chr20	34996718	.	G	A	1403.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.692;DP=831;ExcessHet=0;FS=0.726;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.24;ReadPosRankSum=-0.149;SOR=0.771	GT:AD:DP:GQ:PL	0/1:51,55:106:99:1417,0,1341	18	0	1	0
chr20	36255683	36255683	G	A	exonic	AAR2	.	nonsynonymous SNV	AAR2:NM_001271874:exon4:c.G1093A:p.A365T,AAR2:NM_015511:exon4:c.G1093A:p.A365T	.	430	1063	27	2	0	31	0.0143718	.	.	.	728627	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.057	0.00456560478913	0.0045	0.00199681	0.0048	0.0007	0.0022	0	0.0030	0.0059	0.0066	0.0078	0.0047541	735	154602	rs141340897	0.0054	0.0054	0.0052	0.0056	0.0104	0.0053	0.0053	0.0083	0.0075	0.0008	0.0029	0.0026	2.519e-05	0.0033	0.0104	0.0059	0.0047	0.0076	0.0046	0.0046	0.0048	0.0044	0.0069	0.0043	0.0042	0.0059	0.0057	0.0009	0.0296	0.0069	0.0023	0.0002	0.0038	0.0204	0.0064	0.0062	0.0058	0.359	0.11957	T	0.488	0.11621	T	0.006	0.13644	B	0.02	0.19048	B	.	.	.	.	0.905415	0.81001	D	1.445	0.36358	L	0.94	0.43672	T	-0.19	0.09965	N	0.103	0.08646	-1.0467	0.15332	T	0.061	0.25455	T	9	0.0059212446	0.00133	T	0.004566	0.11252	T	0.057	0.16321	.	.	0.556811950826	0.55341	0.06101420694278821	0.06041	0.215112681451	0.24044	0.32391834259	0.14015	T	0.020763	0.16287	T	-0.457199	0.01023	T	-0.423255	0.30702	T	0.00863834843521966	0.00106	T	0.813219	0.46599	T	0.023970261	0.01184	0.077737264	0.17346	0.030735558	0.02788	0.09245888	0.21790	-5.736	0.44013	T	0.2684861974635976	0.36156	0.086	0.11124	B	.;.	.;.	2.830690	0.37313	20.5	0.99001449766399652	0.50168	0.95450	0.64769	D	AEFDBI	0.363660	0.45248	N	-0.31823185212097	0.28455	1.569668	-0.179261250004769	0.32300	1.836268	0.999998790756796	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.17	5.21	0.72005	3.741000	0.54810	5.070000	0.47169	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.941000	0.48210	0.0:0.0:0.8287:0.1713	14.709	0.68826	766	0.49742	.;.	.	.	.	.	.	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	0.007049	0.005051	0.006793	0.005848	0.000000	0.000000	0.012195	0.007576	0.05263	2123.83	38	chr20	36255683	.	G	A	2123.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.196;DP=804;ExcessHet=0.119;FS=4.073;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.67;ReadPosRankSum=-0.664;SOR=0.468	GT:AD:DP:GQ:PL	0/1:45,37:82:99:1014,0,1218	17	0	2	0
chr20	36615354	36615354	G	A	exonic	SLA2	.	nonsynonymous SNV	SLA2:NM_032214:exon6:c.C403T:p.R135C,SLA2:NM_175077:exon6:c.C403T:p.R135C	.	.	.	.	.	.	.	.	.	.	.	3332366	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.821	0.422431596037	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1306590236	3.557e-05	3.625e-05	3.948e-05	3.163e-05	4.227e-05	2.762e-05	2.501e-05	3.257e-05	2.918e-05	0	0	0	0	0	0	4.227e-05	6.624e-05	1.159e-05	3.944e-05	3.94e-05	6.424e-05	1.346e-05	0.0002	1.716e-05	1.13e-05	1.972e-05	1.124e-05	2.414e-05	0	0	0	0	0	0	5.88e-05	0	0.0002	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000007	0.62929	D	0.057526	0.999967	0.52935	D	2.21	0.62235	M	-2.52	0.89363	D	-5.56	0.86296	D	0.86	0.85766	0.755	0.93857	D	0.799	0.93198	D	10	0.9748113	0.97206	D	0.422432	0.93820	D	0.821	0.94276	.	.	0.920338632212	0.91953	0.7526863225782747	0.75215	0.995115495999	0.74196	0.630425333977	0.57206	T	0.676591	0.90458	D	0.37394	0.88316	D	0.314848	0.88871	D	0.983280539512634	0.75008	D	0.932107	0.81930	D	0.8431671	0.86836	0.5014639	0.71179	0.8431671	0.86837	0.5014639	0.71179	-9.48	0.70735	D	.	.	0.525	0.65692	A	.;.	.;.	4.089704	0.60902	24.3	0.99856505141905372	0.93548	0.72581	0.35521	D	AEFGBHCI	0.182987	0.31031	N	0.309119407237084	0.56615	3.826549	0.230356378851174	0.51540	3.335641	0.999995063362407	0.74766	0.57788	0.32782	0	0.379588	0.06130	0	0.608075	0.38828	0	0.711	0.71501	0	.	.	6.17	4.16	0.48138	0.924000	0.28378	5.522000	0.48825	-0.162000	0.11565	0.999000	0.42656	1.000000	0.68203	0.135000	0.19760	0.0:0.0:0.5853:0.4147	12.872	0.57359	365	0.84644	SH2 domain|SH2 domain|SH2 domain|SH2 domain|SLAP, SH2 domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	508.33	34	chr20	36615354	.	G	A	508.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.32;DP=644;ExcessHet=0;FS=2.591;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.82;ReadPosRankSum=-0.488;SOR=1.292	GT:AD:DP:GQ:PL	0/1:28,19:47:99:522,0,708	18	0	1	0
chr20	41100210	41100210	T	C	exonic	TOP1	.	nonsynonymous SNV	TOP1:NM_003286:exon12:c.T1130C:p.I377T	DNA topoisomerase I, camptothecin-resistant (3)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.574	0.0834407527716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	5.476e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.385	0.91502	M	0.56	0.54540	T	-3.32	0.66085	D	0.82	0.81559	-0.0985	0.80132	T	0.396	0.74836	T	10	0.9008926	0.89450	D	0.083441	0.74116	D	0.574	0.82742	0.722	0.85673	0.540554013241	0.53707	0.9560339756758913	0.95588	2.80145084336	0.98906	0.859892368317	0.91094	D	0.433276	0.78076	T	0.277652	0.81115	D	0.161051	0.80870	D	0.990620062547804	0.80840	D	0.893211	0.63049	D	0.72673106	0.79539	0.6802238	0.81211	0.72673106	0.79541	0.6802238	0.81212	-7.188	0.55395	T	0.21552924678770424	0.28978	0.700	0.72976	P	.	.	4.638435	0.73819	26.1	0.99864711876054513	0.94276	0.99367	0.95101	D	AEFDBIJ	0.901728	0.84877	D	0.864122058876594	0.89897	10.16446	0.811333328112474	0.90570	10.46782	0.99999999931251	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.27	5.27	0.73797	8.017000	0.88732	7.929000	0.74923	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.488	0.75314	921	0.19240	DNA topoisomerase I, DNA binding, eukaryotic-type|DNA topoisomerase I, eukaryotic-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1389	133.23	33	chr20	41100210	.	T	C	133.23	.	AC=5;AF=0.139;AN=36;BaseQRankSum=-2.272;DP=885;ExcessHet=1.3;FS=188.217;InbreedingCoeff=-0.164;MLEAC=5;MLEAF=0.139;MQ=60;MQRankSum=0;QD=0.53;ReadPosRankSum=-0.601;SOR=8.584	GT:AD:DP:GQ:PL	0/1:51,13:64:5:5,0,915	13	0	5	1
chr20	44727357	44727357	C	G	exonic	CCN5	.	nonsynonymous SNV	CCN5:NM_001323369:exon3:c.C556G:p.P186A	.	420	1077	24	1	0	26	0.0119266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	.	0.0012	0.00259585	0.0043	0.0003	0.0037	0	0.0003	0.0043	0.0061	0.0119	0.0020375	315	154602	rs142405609	0.0016	0.0017	0.0015	0.0018	0.0223	0.0016	0.0016	0.0191	0.0179	0.0005	0.0015	0.0240	2.67e-05	3.968e-05	0.0223	0.0008	0.0036	0.0057	0.0016	0.0016	0.0017	0.0015	0.0056	0.0014	0.0014	0.0039	0.0034	0.0002	0	0.0008	0.0239	0	0	0.0170	0.0014	0.0066	0.0056	0.0	0.91255	D	0.041	0.50514	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.52	0.70717	T	-0.66	0.19085	N	0.176	0.18920	-0.8830	0.49521	T	0.189	0.54079	T	8	0.0037848055	0.00071	T	.	.	.	0.094	0.27141	.	.	0.310458034454	0.30648	.	.	.	.	.	.	.	.	.	.	-0.427082	0.01544	T	-0.383082	0.35361	T	0.0364771452821099	0.03063	T	0.232477	0.03154	T	.	.	.	.	.	.	.	.	-3.405	0.15123	T	.	.	0.073	0.04681	B	.	.	0.410365	0.07812	4.505	0.26924644678525839	0.01312	0.11559	0.16714	N	AEFDGBHCI	0.092008	0.18630	N	-0.752703406160392	0.14559	0.7263035	-0.906077549568754	0.11950	0.6119481	0.999999924464166	0.74766	0.615755	0.39536	0	0.547309	0.14657	0	0.618376	0.41669	0	0.613276	0.41899	0	.	.	2.34	1.39	0.21325	0.453000	0.21523	0.646000	0.20366	0.389000	0.20474	0.021000	0.19753	0.000000	0.08366	0.005000	0.06747	0.0:0.8256:0.0:0.1744	5.050	0.13841	537	0.73184	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	938.33	35	chr20	44727357	.	C	G	938.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.565;DP=713;ExcessHet=0;FS=1.84;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.04;ReadPosRankSum=0.913;SOR=0.47	GT:AD:DP:GQ:PL	0/1:46,39:85:99:952,0,1346	18	0	1	0
chr20	49270631	49270631	C	T	exonic	ZNFX1	.	nonsynonymous SNV	ZNFX1:NM_021035:exon3:c.G1181A:p.S394N	.	427	1080	15	0	0	15	0.00689655	.	.	.	728713	ZNFX1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.245	0.0145941870166	0.0019	0.00319489	0.0019	0.0028	0.0041	0	0.0003	0.0015	0.0033	0.0029	0.0017982	278	154602	rs142531207	0.0015	0.0015	0.0015	0.0016	0.0101	0.0015	0.0015	0.0080	0.0072	0.0040	0.0045	0.0026	2.519e-05	0.0002	0.0101	0.0013	0.0029	0.0023	0.0023	0.0023	0.0023	0.0023	0.0061	0.0021	0.0020	0.0051	0.0047	0.0028	0	0.0061	0.0026	0	0.0002	0.0102	0.0015	0.0066	0.0029	0.332	0.13045	T	0.375	0.16231	T	0.039	0.21116	B	0.011	0.15521	B	0.000081	0.51296	D	0.241758	0.694197	0.33357	D	0.065	0.08236	N	-1.84	0.86415	D	-0.21	0.16393	N	0.077	0.09066	-0.3591	0.73290	T	0.394	0.74735	T	10	0.005534351	0.00122	T	0.014594	0.34806	T	0.245	0.55201	.	.	0.0675242888579	0.06100	0.3309857942690628	0.33011	0.362721336408	0.37921	0.528571367264	0.42832	T	0.011811	0.10480	T	-0.401384	0.02268	T	-0.345331	0.39740	T	0.0125463992663683	0.00208	T	0.752425	0.38090	T	0.10381373	0.24539	0.0833315	0.19089	0.10381373	0.24538	0.0833315	0.19088	-8.142	0.62033	D	.	.	0.091	0.19154	B	.;.;.;.;.	.;.;.;.;.	2.044557	0.25992	16.96	0.96842356861710799	0.31308	0.68973	0.34006	D	ALL	0.116028	0.22789	N	-0.179799147647563	0.33977	1.933869	-0.00705870404005451	0.39395	2.335168	0.999999314337297	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.463624	0.06942	0	0.735409	0.98432	0	.	.	5.85	4.91	0.63897	0.883000	0.27838	3.989000	0.40972	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.8461:0.0:0.1539	10.018	0.41199	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	0	0	1	0	0.015609	0.030303	0.019022	0.023392	0.000000	0.017241	0.003049	0.007576	0.02632	2253.33	39	chr20	49270631	.	C	T	2253.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.748;DP=865;ExcessHet=0;FS=1.297;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.44;ReadPosRankSum=0.558;SOR=0.58	GT:AD:DP:GQ:PL	0/1:73,83:156:99:2267,0,2101	18	0	1	0
chr20	58854542	58854577	CAGCCGATCCCGACTCCGGGGCAGCCCCTGCCGCCC	-	exonic	GNAS	.	nonframeshift deletion	GNAS:NM_001077490:exon1:c.1090_1125del:p.Q371_G382del,GNAS:NM_001309883:exon1:c.1090_1125del:p.Q371_G382del,GNAS:NM_080425:exon1:c.1277_1312del:p.A436_P447del	ACTH-independent macronodular adrenal hyperplasia, Isolated cases;Acromegaly, somatic;McCune-Albright syndrome, somatic, mosaic;Osseous heteroplasia, progressive, Autosomal dominant;Pseudohypoparathyroidism Ia, Autosomal dominant;Pseudohypoparathyroidism Ib, Autosomal dominant;Pseudohypoparathyroidism Ic, Autosomal dominant;Pseudopseudohypoparathyroidism, Autosomal dominant	2	1513	7	0	0	7	0.00230795	.	.	.	3214757	GNAS-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0.0003	0	0	0.0002	0	0.0004	3.84e-05	1	26028	rs745913170	9.197e-05	9.166e-05	8.086e-05	0.0001	0.0012	7.891e-05	7.424e-05	0.0006	0.0004	0	9.574e-05	0	2.654e-05	0	0.0012	7.177e-05	0.0001	0.0004	0.0001	0.0001	0.0002	2.937e-05	0.0004	6.029e-05	4.856e-05	0.0001	8.87e-05	3.018e-05	0	0.0004	0	0	0	0	0.0001	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	703.29	38	chr20	58854541	.	GCAGCCGATCCCGACTCCGGGGCAGCCCCTGCCGCCC	G	703.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.32;DP=708;ExcessHet=0;FS=7.115;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.53;ReadPosRankSum=-2.295;SOR=0.901	GT:AD:DP:GQ:PL	0/1:39,22:61:99:717,0,1494	18	0	1	0
chr20	59892042	59892042	T	G	exonic	SYCP2	.	nonsynonymous SNV	SYCP2:NM_014258:exon24:c.A2312C:p.E771A	.	459	1049	11	3	0	17	0.00803783	.	.	.	2476868	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.004	0.0041464142265	0.0018	0.00359425	0.0028	0.0003	0.0020	0	0	0.0026	0.0033	0.0088	0.0026778	414	154602	rs117549957	0.0026	0.0026	0.0024	0.0029	0.0094	0.0026	0.0025	0.0080	0.0078	0.0004	0.0024	0.0073	0	5.639e-05	0.0094	0.0023	0.0033	0.0086	0.0021	0.0021	0.0021	0.0021	0.0052	0.0019	0.0018	0.0036	0.0031	0.0003	0	0.0030	0.0072	0	9.418e-05	0.0272	0.0028	0.0052	0.0052	0.725	0.04443	T	0.737	0.05036	T	0.006	0.13644	B	0.004	0.10090	B	0.707332	0.10043	N	0.876643	1	0.08975	N	0.69	0.16971	N	2.48	0.18248	T	-0.15	0.10833	N	0.069	0.06720	-0.9474	0.41414	T	0.013	0.05273	T	10	0.0046943426	0.00099	T	0.004146	0.09931	T	0.004	0.00165	.	.	0.043077524339	0.03247	0.15897107292305326	0.15818	0.0303572808084	0.03137	0.230584919453	0.02011	T	0.080479	0.36372	T	-0.653147	0.00069	T	-0.704721	0.05572	T	0.00172586463314303	0.00018	T	0.643236	0.25495	T	0.03463505	0.03925	0.031656172	0.01785	0.03463505	0.03924	0.031656172	0.01784	-4.121	0.25599	T	.	.	0.096	0.19438	B	.;.;.	.;.;.	0.149478	0.05419	1.894	0.32628396023178846	0.01901	0.03423	0.08551	N	AEFI	0.066263	0.12968	N	-1.26149894413797	0.04149	0.1867449	-1.2456061327886	0.05196	0.2470095	5.05074692332387E-5	0.03989	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.32	-0.432	0.11678	-0.564000	0.06027	0.080000	0.14378	-1.309000	0.01237	0.000000	0.06391	0.000000	0.08366	0.589000	0.31115	0.2797:0.4687:0.0:0.2516	3.956	0.08887	994	0.00715	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.017623	0.000000	0.020380	0.023392	0.050000	0.051724	0.012195	0.011364	0.02632	1644.33	37	chr20	59892042	.	T	G	1644.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.378;DP=782;ExcessHet=0;FS=0.672;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.36;ReadPosRankSum=-0.223;SOR=0.793	GT:AD:DP:GQ:PL	0/1:63,70:133:99:1658,0,1670	18	0	1	0
chr20	59939439	59939439	C	T	exonic	PPP1R3D	.	nonsynonymous SNV	PPP1R3D:NM_006242:exon1:c.G493A:p.A165T	.	431	1071	19	1	0	21	0.00970874	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.0313602730276	0.0017	0.00359425	0.0029	0.0001	0.0020	0	0	0.0026	0.0025	0.0084	0.002445	378	154602	rs149736385	0.0026	0.0026	0.0024	0.0029	0.0092	0.0025	0.0025	0.0080	0.0078	0.0004	0.0024	0.0073	0	7.766e-05	0.0092	0.0023	0.0032	0.0085	0.0021	0.0021	0.0021	0.0021	0.0052	0.0019	0.0018	0.0036	0.0031	0.0003	0	0.0032	0.0072	0	9.411e-05	0.0272	0.0028	0.0057	0.0052	0.538	0.06847	T	0.565	0.08961	T	0.001	0.07471	B	0.001	0.04355	B	0.901394	0.07358	N	1.056550	0.735285	0.29789	N	1.175	0.29870	L	0.51	0.55439	T	-0.57	0.17210	N	0.063	0.03502	-1.0397	0.17404	T	0.047	0.19998	T	10	0.0023865998	0.00035	T	0.03136	0.53460	D	0.029	0.06676	.	.	0.48505662038	0.48136	0.18719301782112324	0.18637	0.783494048791	0.65400	0.42191067338	0.28099	T	0.011707	0.10405	T	-0.616636	0.00115	T	-0.652417	0.08785	T	0.00182093008429166	0.00019	T	0.474753	0.14169	T	0.050027553	0.08975	0.06288651	0.12375	0.050027553	0.08974	0.06288651	0.12375	-5.27	0.39645	T	.	.	0.079	0.07412	B	.	.	1.819671	0.23120	15.89	0.98549616485174141	0.42833	0.23289	0.22028	N	AEFDGBHCI	0.101186	0.20330	N	-1.00173789304803	0.08567	0.4022025	-0.948997271987702	0.10946	0.5546428	0.999999997774422	0.74766	0.455138	0.09556	0	0.405561	0.06353	1	0.503968	0.08637	0	0.56751	0.32155	0	.	.	5.16	-0.983	0.09738	0.156000	0.16200	1.588000	0.27514	0.597000	0.34315	0.029000	0.20367	0.999000	0.35428	0.979000	0.57723	0.3147:0.3622:0.0946:0.2285	1.585	0.02484	993	0.01300	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.016633	0.000000	0.017663	0.023392	0.050000	0.051724	0.012270	0.011364	0.02632	1860.33	34	chr20	59939439	.	C	T	1860.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.878;DP=793;ExcessHet=0;FS=5.886;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.93;ReadPosRankSum=-0.599;SOR=1.136	GT:AD:DP:GQ:PL	0/1:86,70:156:99:1874,0,2307	18	0	1	0
chr20	62312901	62312901	G	A	exonic	LAMA5	.	nonsynonymous SNV	LAMA5:NM_005560:exon66:c.C9065T:p.S3022L	.	393	1128	1	0	0	1	0.000443066	.	.	.	1600655	Inborn_genetic_diseases|LAMA5-related_disorder|not_provided	MeSH:D030342,MedGen:C0950123|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.229	0.0620787326221	.	0.000798722	0.0006	0	8.832e-05	0	0	4.91e-05	0	0.0060	0.0005692	88	154602	rs546335527	0.0003	0.0003	0.0002	0.0005	0.0052	0.0003	0.0003	0.0048	0.0047	3.03e-05	6.953e-05	0	5.085e-05	0	0.0014	8.212e-06	0.0004	0.0052	0.0002	0.0002	0.0001	0.0002	0.0037	0.0001	9.231e-05	0.0024	0.0020	4.81e-05	0	0	0	0	0	0	4.409e-05	0.0005	0.0037	0.271	0.15984	T	0.059	0.45961	T	0.032	0.20242	B	0.027	0.21085	B	0.363869	0.04320	U	1.493010	1	0.08975	N	1.1	0.28011	L	-1.31	0.79666	T	-1.98	0.45769	N	0.236	0.26596	-0.6908	0.60871	T	0.403	0.75352	T	10	0.0080138445	0.00182	T	0.062079	0.68539	D	0.229	0.52916	0.589	0.71749	0.536312930822	0.53281	0.2978594882413681	0.29698	.	.	0.422438919544	0.28172	T	0.162972	0.50785	T	-0.406543	0.02096	T	-0.354552	0.38683	T	0.0324325746514679	0.02377	T	0.720728	0.33361	T	0.086698174	0.20163	0.05929975	0.11104	0.086698174	0.20162	0.05929975	0.11103	-3.68	0.19023	T	.	.	0.098	0.16275	B	.	.	1.724520	0.21953	15.42	0.98984632935525918	0.49800	0.09196	0.15000	N	AEFDGBCI	0.079065	0.15964	N	-0.698451932233998	0.16065	0.8152649	-0.695996003513139	0.17061	0.9054323	0.999557627676994	0.40362	0.706548	0.73137	0	0.588066	0.40923	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.64	3.69	0.41483	2.097000	0.41373	3.752000	0.39687	0.606000	0.46413	0.024000	0.20007	0.665000	0.26036	0.029000	0.12982	0.0843:0.0:0.9157:0.0	12.350	0.54469	774	0.48577	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003817	0.02632	1427.33	43	chr20	62312901	.	G	A	1427.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.14;DP=833;ExcessHet=0;FS=11.315;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.62;ReadPosRankSum=0.341;SOR=0.501	GT:AD:DP:GQ:PL	0/1:33,48:81:99:1441,0,905	18	0	1	0
chr20	63202672	63202672	C	G	exonic	YTHDF1	.	nonsynonymous SNV	YTHDF1:NM_017798:exon4:c.G1268C:p.S423T	.	431	1086	5	0	0	5	0.00229674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	.	.	0.00898562	0.0050	0.0002	0.0002	0.0001	0.0002	2.999e-05	0.0066	0.0360	0.0043725	676	154602	rs543957413	0.0020	0.0020	0.0010	0.0030	0.0322	0.0019	0.0019	0.0312	0.0308	0.0001	4.472e-05	0	2.519e-05	0	0.0009	3.687e-05	0.0018	0.0322	0.0010	0.0010	0.0007	0.0014	0.0306	0.0009	0.0008	0.0266	0.0251	0.0001	0	0	0	0	0	0	2.939e-05	0	0.0306	0.048	0.40068	D	0.252	0.23570	T	0.002	0.09854	B	0.016	0.17743	B	0.001938	0.37643	N	0.343298	0.998931	0.81001	D	0.425	0.12573	N	1.57	0.29342	T	-1.32	0.32991	N	0.232	0.26111	-1.0962	0.04583	T	0.061	0.25310	T	10	0.0089793205	0.00203	T	.	.	.	0.054	0.15330	0.296	0.26041	0.082315109003	0.07666	0.37430711384373727	0.37344	0.384353304166	0.39738	0.375573754311	0.21628	T	0.038937	0.25016	T	-0.537614	0.00346	T	-0.519955	0.20298	T	0.0204177699101205	0.00741	T	0.834417	0.50357	T	0.29530033	0.52480	0.18944402	0.42292	0.29530033	0.52480	0.18944402	0.42291	-6.27	0.48485	T	.	.	0.084	0.09481	B	.	.	1.665863	0.21242	15.11	0.98997356912386958	0.50065	0.89870	0.50621	D	AEFDBCI	0.432611	0.49442	N	-0.0924336118702845	0.37723	2.198886	0.0910865228417098	0.44098	2.698246	0.999999599093652	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.02	5.02	0.66742	5.220000	0.65099	4.029000	0.41321	0.549000	0.26987	1.000000	0.71638	0.273000	0.24060	0.774000	0.36673	0.0:1.0:0.0:0.0	18.345	0.90261	.	.	YTH domain|YTH domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.007576	0.02632	3027.33	60	chr20	63202672	.	C	G	3027.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.094;DP=919;ExcessHet=0;FS=4.203;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.78;ReadPosRankSum=-1.984;SOR=0.491	GT:AD:DP:GQ:PL	0/1:141,116:257:99:3041,0,3984	18	0	1	0
chr20	63312873	63312873	C	T	exonic	COL20A1	.	nonsynonymous SNV	COL20A1:NM_020882:exon16:c.C2015T:p.P672L	.	433	1083	6	0	0	6	0.00276243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	.	.	0.00938498	0.0150	0	0.0016	0	0	0.0002	0.0198	0.0414	0.0037322	577	154602	rs543098240	0.0024	0.0024	0.0013	0.0035	0.0397	0.0023	0.0023	0.0386	0.0381	0.0002	8.175e-05	0	0.0001	0	0.0007	3.325e-05	0.0024	0.0397	0.0013	0.0013	0.0007	0.0020	0.0392	0.0012	0.0011	0.0346	0.0329	0.0003	0	0	0	0	0	0	0	0.0005	0.0392	0.45	0.08996	T	0.435	0.13993	T	0.013	0.16609	B	0.002	0.06944	B	0.441449	0.04762	N	1.549150	1	0.08975	N	1.185	0.30054	L	0.41	0.57100	T	-1.69	0.40274	N	0.093	0.08646	-1.0548	0.13093	T	0.090	0.34491	T	10	0.0021040142	0.00030	T	.	.	.	0.031	0.07369	0.499	0.58991	0.314417295294	0.31040	0.13493479263700245	0.13417	0.0356117273275	0.03758	0.539911866188	0.44432	T	0.023071	0.17673	T	-0.546069	0.00308	T	-0.527891	0.19497	T	0.00516290885668336	0.00056	T	0.70443	0.31478	T	0.029299466	0.02403	0.04000411	0.04223	0.029299466	0.02403	0.04000411	0.04223	-6.693	0.51758	T	.	.	0.094	0.16099	B	.;.	.;.	0.982131	0.13596	10.13	0.58033798672336745	0.05902	0.04674	0.10353	N	AEFDBIJ	0.054627	0.09948	N	-1.11811450387839	0.06320	0.2906441	-1.15368950147077	0.06702	0.3234847	0.987796732055205	0.31344	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	4.25	-0.136	0.12815	0.871000	0.27675	0.001000	0.13291	0.454000	0.21428	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	0.0:0.4385:0.2011:0.3603	3.420	0.06960	.	.	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	0.005118	0.000000	0.002755	0.002976	0.000000	0.000000	0.000000	0.011628	0.02632	806.33	42	chr20	63312873	.	C	T	806.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.041;DP=723;ExcessHet=0;FS=0.876;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.61;ReadPosRankSum=0.975;SOR=0.541	GT:AD:DP:GQ:PL	0/1:41,35:76:99:820,0,968	18	0	1	0
chr20	63542268	63542268	G	A	exonic	SRMS	.	nonsynonymous SNV	SRMS:NM_080823:exon5:c.C841T:p.R281W	.	415	1105	2	0	0	2	0.000904159	.	.	.	2201131	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.112	0.00809376415649	.	.	8.372e-05	0	8.685e-05	0	0	6.115e-05	0	0.0003	6.47e-05	10	154602	rs375350107	4.657e-05	4.857e-05	4.088e-05	5.232e-05	0.0002	3.732e-05	3.415e-05	0.0001	0.0001	0	2.238e-05	0	0	0	0.0002	3.778e-05	8.285e-05	0.0002	1.971e-05	1.97e-05	3.853e-05	0	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	0.0	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	0.997	0.86255	D	0.005341	0.32875	N	0.201721	0.996785	0.22902	N	2.7	0.79018	M	2.6	0.13204	T	-6.77	0.92782	D	0.467	0.50327	-1.0404	0.17192	T	0.106	0.38611	T	10	0.5462415	0.64000	D	0.008094	0.21444	T	0.112	0.31546	0.525	0.62967	0.57106906325	0.56773	0.41429593947553234	0.41345	0.609944365352	0.55699	0.460135102272	0.33328	T	0.736806	0.92677	D	-0.341088	0.05312	T	-0.431534	0.29761	T	0.606846351133592	0.36673	D	0.906009	0.66877	D	0.6422544	0.74951	0.56555164	0.74854	0.6422544	0.74953	0.56555164	0.74854	-9.213	0.69057	D	.	.	0.104	0.18991	B	.	.	2.716600	0.35524	19.92	0.99784318743154676	0.87043	0.21129	0.21292	N	AEFDGBHCI	0.346918	0.44157	N	-0.27207946370603	0.30230	1.683687	-0.569323962739302	0.20295	1.092778	0.999999999985598	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	4.62	-5.4	0.02449	0.355000	0.19902	-0.266000	0.10387	-0.194000	0.09177	0.032000	0.20554	0.000000	0.08366	0.978000	0.57271	0.1927:0.0:0.5972:0.2101	9.177	0.36279	.	.	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	.	.	.	.	.	.	.	.	0.02632	1826.33	33	chr20	63542268	.	G	A	1826.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.607;DP=839;ExcessHet=0;FS=5.135;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.68;ReadPosRankSum=0.024;SOR=0.374	GT:AD:DP:GQ:PL	0/1:72,72:144:99:1840,0,1686	18	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	.	.	.	.	.	.	.	.	0.05263	6450.83	34	chr21	13610400	.	A	G	6450.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-2.016;DP=1265;ExcessHet=0.119;FS=1.1;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=57.99;MQRankSum=0.512;QD=10.99;ReadPosRankSum=-0.551;SOR=0.72	GT:AD:DP:GQ:PL	0/1:157,147:304:99:3470,0,3902	17	0	2	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	.	.	.	.	.	.	.	.	0.5	70838.3	366	chr21	13610565	.	G	A	70838.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=3;DP=4790;ExcessHet=8.2795;FS=1.103;InbreedingCoeff=-0.3684;MLEAC=19;MLEAF=0.5;MQ=54.86;MQRankSum=-8.431;QD=15.65;ReadPosRankSum=0.808;SOR=0.764	GT:AD:DP:GQ:PL	0/1:116,137:253:99:3618,0,2763	3	3	13	0
chr21	13610631	13610631	A	G	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon1:c.A403G:p.I135V	.	439	188	453	442	0	1337	0.780502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00179256116657	.	.	.	.	.	.	.	.	.	.	0.175004	4555	26028	rs6517870	0.0002	0.0006	0.0002	0.0002	0.0010	0.0002	0.0002	0.0007	0.0006	0	0.0010	0	0	0.0019	0	0.0001	7.755e-05	3.326e-05	0.0002	0.0008	0.0001	0.0003	0.0011	0.0001	0.0001	0.0006	0.0005	0	0	0.0011	0	0	0.0004	0	8.695e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	P	0.955	0.23872	L	0.69	0.51714	T	0.21	0.04776	N	0.013	0.00142	-1.0463	0.15447	T	0.001	0.00408	T	8	0.01186794	0.00257	T	0.001793	0.03063	T	0.027	0.05988	.	.	0.043077524339	0.03247	0.057245171207421994	0.05665	.	.	0.60823392868	0.54066	T	0.003659	0.03070	T	-0.325257	0.06477	T	-0.704986	0.05557	T	0.0231726184936854	0.01044	T	0.405359	0.11777	T	0.018582096	0.00380	0.026746769	0.00781	0.018582096	0.00379	0.026746769	0.00780	-2.614	0.06610	T	.	.	0.071	0.06571	B	.;.	.;.	-1.090417	0.00652	0.018	0.18791234627756773	0.00606	0.00044	0.00357	N	AEFI	0.015589	0.00305	N	-2.40962434727351	0.00026	0.001112248	-2.38906535767928	0.00042	0.001829696	4.90101459551143E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.29	-2.58	0.05866	-2.318000	0.01202	.	.	-2.102000	0.00394	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5692:0.0:0.4308:0.0	5.628	0.16773	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012405	0.000000	0.013369	0.016129	0.000000	0.046512	0.000000	0.010417	0.5	51549.3	311	chr21	13610631	.	A	G	51549.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.175;DP=3934;ExcessHet=8.2795;FS=4.175;InbreedingCoeff=-0.3684;MLEAC=19;MLEAF=0.5;MQ=50.54;MQRankSum=-13.57;QD=13.93;ReadPosRankSum=0.36;SOR=1.018	GT:AD:DP:GQ:PL	0/1:117,110:227:99:2824,0,3118	3	3	13	0
chr21	13641414	13641414	A	G	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon11:c.A1603G:p.M535V	.	518	268	324	412	0	1148	0.68171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.000925184405604	.	.	.	.	.	.	.	.	.	.	0.0332984	5148	154602	rs9980783	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.19293	T	0.265	0.22694	T	0.053	0.22573	B	0.007	0.12992	B	.	.	.	.	0.999995	0.08975	N	1.295	0.32453	L	2.51	0.14284	T	-0.92	0.24676	N	0.112	0.09914	-0.9460	0.41648	T	0.021	0.08870	T	9	0.058576673	0.06907	T	9.25E-4	0.00889	T	0.056	0.15993	0.204	0.11936	0.0675242888579	0.06100	0.017058676146940573	0.01660	.	.	0.862693071365	0.91508	D	0.009423	0.08576	T	-0.65755	0.00065	T	-0.573482	0.15131	T	0.0619566306163236	0.07473	T	0.571043	0.20346	T	0.060948554	0.12567	0.09257506	0.21825	0.060948554	0.12567	0.09257506	0.21824	-3.238	0.12951	T	.	.	0.097	0.15788	B	.	.	0.712273	0.10810	7.493	0.4975947206577841	0.04266	0.04450	0.10053	N	AEFI	0.042990	0.06739	N	-0.991022779855283	0.08795	0.4137322	-1.03117548479235	0.09104	0.4510756	2.3450725238948E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.1	2.1	0.26226	1.579000	0.36145	.	.	0.351000	0.19951	0.307000	0.25387	0.000000	0.08366	0.054000	0.15518	0.8091:0.0:0.1909:0.0	3.884	0.08596	.	.	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5526	47375.2	161	chr21	13641414	.	A	G	47375.2	.	AC=21;AF=0.553;AN=38;BaseQRankSum=-2.158;DP=2954;ExcessHet=3.6106;FS=1.192;InbreedingCoeff=-0.1709;MLEAC=21;MLEAF=0.553;MQ=58.14;MQRankSum=-1.219;QD=17.04;ReadPosRankSum=0.529;SOR=0.59	GT:AD:DP:GQ:PL	0/1:102,108:212:99:2430,0,2711	3	5	11	0
chr21	33488790	33488790	G	A	exonic	DNAJC28	.	nonsynonymous SNV	DNAJC28:NM_001040192:exon2:c.C604T:p.R202C,DNAJC28:NM_001320746:exon2:c.C604T:p.R202C,DNAJC28:NM_017833:exon2:c.C604T:p.R202C	.	427	1094	1	0	0	1	0.00045683	.	.	.	2360074	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.591	0.0565661312173	0.0002	.	6.591e-05	0	0	0	0	0.0001	0	6.061e-05	6.47e-05	10	154602	rs143094354	8.69e-05	8.824e-05	0.0001	7.015e-05	0.0007	7.422e-05	6.971e-05	0.0002	0.0001	0.0001	6.721e-05	0.0013	2.52e-05	0	0.0007	5.486e-05	0.0003	4.644e-05	0.0001	0.0001	0.0001	0.0002	0.0005	9.748e-05	8.262e-05	0.0003	0.0002	2.408e-05	0	0.0005	0.0020	0	0	0.0068	5.883e-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	3.035	0.86516	M	.	.	.	-7.93	0.96269	D	0.886	0.91736	0.252	0.86781	D	0.560	0.83966	D	9	0.67142904	0.70736	D	0.056566	0.66650	D	0.591	0.83691	.	.	0.630985328677	0.62797	0.7132444548932934	0.71266	0.279923495073	0.30473	0.583127140999	0.50526	T	0.322716	0.69370	T	0.320046	0.84476	D	0.41363	0.92544	D	0.939452826976776	0.61093	D	.	.	.	0.7696587	0.82027	0.6766136	0.81009	0.7696587	0.82029	0.6766136	0.81009	-11.038	0.79866	D	.	.	0.472	0.66155	A	.;.;.;.	.;.;.;.	5.127578	0.85797	28.7	0.99932488782297857	0.99439	0.98103	0.79624	D	AEFI	0.929995	0.91660	D	0.793797715400844	0.85717	8.659955	0.69946824895608	0.82338	7.742411	0.997115728743956	0.35288	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.38	5.38	0.77279	7.335000	0.78485	6.634000	0.56161	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	17.904	0.88832	924	0.18029	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2835.33	34	chr21	33488790	.	G	A	2835.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.01;DP=828;ExcessHet=0;FS=4.859;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.97;ReadPosRankSum=2.67;SOR=0.908	GT:AD:DP:GQ:PL	0/1:101,102:203:99:2849,0,2565	18	0	1	0
chr21	40296147	40296147	C	T	exonic	DSCAM	.	nonsynonymous SNV	DSCAM:NM_001271534:exon10:c.G2090A:p.R697Q,DSCAM:NM_001389:exon10:c.G2090A:p.R697Q	.	.	.	.	.	.	.	.	.	.	.	2824759	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.104	0.015218647254	0.0002	0.000199681	0.0008	0.0001	8.67e-05	0	0	0.0004	0	0.0044	0.0006856	106	154602	rs201055760	0.0004	0.0004	0.0003	0.0004	0.0030	0.0003	0.0003	0.0027	0.0026	0.0001	0.0003	0.0033	2.52e-05	5.617e-05	0.0003	0.0001	0.0007	0.0030	0.0003	0.0003	0.0003	0.0003	0.0023	0.0002	0.0002	0.0013	0.0010	0.0002	0	0.0002	0.0032	0.0002	0	0	0.0001	0.0009	0.0023	0.705	0.04107	T	0.358	0.17064	T	0.001	0.07471	B	0.001	0.04355	B	0.003881	0.34365	N	0.312513	0.821827	0.34788	D	-0.26	0.03792	N	-0.24	0.66834	T	0.51	0.03824	N	0.154	0.15888	-0.9306	0.44051	T	0.097	0.36471	T	10	0.009082824	0.00205	T	0.015219	0.35825	T	0.104	0.29647	.	.	0.553129017008	0.54970	0.24934246753196318	0.24848	0.615893550756	0.56073	0.463892281055	0.33844	T	0.042302	0.26139	T	-0.503674	0.00545	T	-0.496551	0.22706	T	0.0262119200813843	0.01435	T	0.867613	0.56877	D	0.09333419	0.21919	0.079444565	0.17886	0.098282866	0.23179	0.066644914	0.13680	-6.672	0.51599	T	.	.	0.122	0.25527	B	.;.;.	.;.;.	4.028230	0.59550	24.1	0.94089067357616873	0.24244	0.66093	0.32959	D	AEFBI	0.135609	0.25600	N	-0.375189219747196	0.26355	1.437787	-0.0995574952620606	0.35410	2.048235	0.727352025258724	0.23003	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.3	5.3	0.74745	2.296000	0.43245	3.238000	0.36948	0.599000	0.40250	0.808000	0.29825	1.000000	0.68203	0.979000	0.57723	0.0:0.846:0.154:0.0	13.798	0.62672	964	0.07719	Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain|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	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	1580.33	33	chr21	40296147	.	C	T	1580.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.4;DP=759;ExcessHet=0;FS=3.36;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.95;ReadPosRankSum=1.86;SOR=1.051	GT:AD:DP:GQ:PL	0/1:65,57:122:99:1594,0,1527	18	0	1	0
chr21	42137640	42137722	AGGTGGGTGCGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAAGGTGGGTGTGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAG	0	splicing	UMODL1	.	.	.	.	432	559	239	60	232	591	0.24306	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1471	7112.35	76	chr21	42137640	.	AGGTGGGTGCGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAAGGTGGGTGTGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAG	*	7112.35	.	AC=5;AF=0.147;AN=34;BaseQRankSum=1.47;DP=1155;ExcessHet=0.0526;FS=1.3;InbreedingCoeff=0.3493;MLEAC=5;MLEAF=0.147;MQ=59.76;MQRankSum=0;QD=16.09;ReadPosRankSum=1.21;SOR=0.587	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,18:48:99:.:.:1831,1166,1458:.	12	0	5	2
chr21	44558654	44558654	G	T	exonic	KRTAP10-3	.	nonsynonymous SNV	KRTAP10-3:NM_198696:exon1:c.C62A:p.A21D	.	393	1115	14	0	0	14	0.00623886	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	.	0.0048	0.00559105	0.0027	0.0156	0.0020	0.0017	0	0.0014	0	0.0026	0.0025161	389	154602	rs145185182	0.0014	0.0014	0.0014	0.0014	0.0134	0.0013	0.0013	0.0124	0.0120	0.0134	0.0016	7.659e-05	0.0008	1.874e-05	0.0074	0.0010	0.0022	0.0025	0.0044	0.0044	0.0044	0.0044	0.0132	0.0041	0.0040	0.0123	0.0119	0.0132	0	0.0012	0	0.0014	0	0.0034	0.0012	0.0047	0.0012	1.0	0.00964	T	0.465	0.12421	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.81001	D	-3.455	0.00004	N	4.18	0.02743	T	6.43	0.00006	N	0.077	0.05162	-0.9403	0.42568	T	0.001	0.00467	T	9	0.0027834773	0.00044	T	.	.	.	0.050	0.13987	.	.	0.0762999501168	0.06990	0.017135325724763346	0.01668	0.0269283058612	0.02750	0.242103278637	0.02982	T	0.001183	0.00684	T	-0.720735	0.00027	T	-0.796386	0.01995	T	0.00344508985871034	0.00036	T	0.181182	0.01822	T	0.054069463	0.10323	0.08890488	0.20758	0.054069463	0.10323	0.08890488	0.20757	1.182	0.00111	T	.	.	0.042	0.00026	B	.	.	-0.230633	0.02939	0.431	0.87096415242261449	0.16986	0.00279	0.01508	N	AEFBI	0.024137	0.01448	N	-1.26234060596341	0.04139	0.1862424	-1.01412331628193	0.09474	0.4715567	5.47406558694427E-4	0.07273	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.43	2.26	0.27418	0.033000	0.13642	0.340000	0.17371	-0.694000	0.04098	0.030000	0.20431	0.000000	0.08366	0.155000	0.20479	0.0:0.0:0.4331:0.5669	7.781	0.28226	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	0.006878	0.000000	0.009511	0.008197	0.050000	0.000000	0.009146	0.007576	0.02632	2139.33	37	chr21	44558654	.	G	T	2139.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.762;DP=1878;ExcessHet=0;FS=2.63;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.86;MQRankSum=-1.592;QD=12.09;ReadPosRankSum=-0.417;SOR=0.892	GT:AD:DP:GQ:PL	0/1:97,80:177:99:2153,0,2671	18	0	1	0
chr21	44637717	44637717	T	0	exonic	KRTAP10-10	.	.	.	.	433	876	177	15	21	228	0.105666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2059	6951.77	438	chr21	44637717	.	T	*	6951.77	.	AC=7;AF=0.206;AN=34;BaseQRankSum=0.267;DP=6216;ExcessHet=0.0419;FS=0.547;InbreedingCoeff=0.272;MLEAC=8;MLEAF=0.235;MQ=59.94;MQRankSum=-0.6;QD=3.99;ReadPosRankSum=-1.613;SOR=0.756	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:199,155:354:99:.:.:5579,0,7574:.	12	2	3	2
chr21	44637718	44637718	G	0	exonic	KRTAP10-10	.	.	.	.	432	881	177	15	17	224	0.10513	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2059	6950.77	438	chr21	44637718	.	G	*	6950.77	.	AC=7;AF=0.206;AN=34;BaseQRankSum=-1.891;DP=6220;ExcessHet=0.0419;FS=0.547;InbreedingCoeff=0.272;MLEAC=8;MLEAF=0.235;MQ=59.94;MQRankSum=-0.6;QD=3.99;ReadPosRankSum=-1.794;SOR=0.756	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:199,155:354:99:.:.:5579,0,7574:.	12	2	3	2
chr21	44637719	44637719	T	0	exonic	KRTAP10-10	.	.	.	.	1	177	5	0	43	48	0.0139276	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2059	6948.77	438	chr21	44637719	.	T	*	6948.77	.	AC=7;AF=0.206;AN=34;BaseQRankSum=1.59;DP=6228;ExcessHet=0.0419;FS=0.547;InbreedingCoeff=0.272;MLEAC=8;MLEAF=0.235;MQ=59.94;MQRankSum=-0.6;QD=3.99;ReadPosRankSum=-1.729;SOR=0.756	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:199,155:354:99:.:.:5579,0,7574:.	12	2	3	2
chr21	46132472	46132472	G	A	exonic	COL6A2	.	nonsynonymous SNV	COL6A2:NM_001849:exon28:c.G2980A:p.A994T	Bethlem myopathy 1, Autosomal recessive, Autosomal dominant;Ullrich congenital muscular dystrophy 1, Autosomal recessive, Autosomal dominant	0	1508	14	0	0	14	0.00462046	.	.	.	134264	Glutamate_formiminotransferase_deficiency|Myosclerosis|Bethlem_myopathy_1A|Ullrich_congenital_muscular_dystrophy_1A|not_specified|Collagen_6-related_myopathy|not_provided	MONDO:MONDO:0009240,MedGen:C0268609,OMIM:229100,Orphanet:51208|MONDO:MONDO:0009714,MedGen:C1850671,OMIM:255600,Orphanet:289380|MONDO:MONDO:0024530,MedGen:CN029274,OMIM:158810,Orphanet:610|MONDO:MONDO:0009681,MedGen:C0410179,OMIM:254090,Orphanet:75840|MedGen:CN169374|MONDO:MONDO:0100225,MedGen:CN117976|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.164	.	0.0011	0.0265575	0.0124	0.0009	0.0005	0.1297	0.0147	0.0020	0.0111	0.0057	0.0106338	1644	154602	rs117931394	0.0054	0.0054	0.0054	0.0054	0.1281	0.0053	0.0053	0.1252	0.1239	0.0002	0.0003	0.0031	0.1281	0.0114	0.0026	0.0011	0.0073	0.0052	0.0064	0.0065	0.0050	0.0080	0.1280	0.0061	0.0060	0.1200	0.1168	0.0006	0	0.0008	0.0035	0.1280	0.0119	0	0.0013	0.0043	0.0089	0.507	0.07570	T	0.216	0.26226	T	0.549	0.38101	P	0.051	0.25434	B	0.117486	0.19151	N	0.536654	0.998855	0.45564	D	0.77	0.19370	N	-1.12	0.77593	T	-0.35	0.12847	N	0.062	0.03392	-1.1673	0.00593	T	0.001	0.00467	T	10	0.001766324	0.00023	T	.	.	.	0.164	0.42212	.	.	.	.	0.616830454301194	0.61615	0.137304281279	0.15482	0.352897107601	0.18348	T	0.16626	0.51243	T	-0.51605	0.00464	T	-0.384226	0.35227	T	0.00534489074507695	0.00058	T	0.768323	0.39714	T	0.016380306	0.00194	0.029998548	0.01403	0.01863278	0.00385	0.029998548	0.01402	-1.76	0.02392	T	0.1634805889871352	0.20146	0.075	0.05447	B	.	.	2.129071	0.27101	17.35	0.91155306953850568	0.20410	0.68625	0.33873	D	AEFBHCI	0.213398	0.33898	N	-0.407559630259108	0.25203	1.366469	-0.341500898710937	0.26773	1.480998	0.999995984164602	0.74766	0.718356	0.82227	0	0.547309	0.14657	0	0.570548	0.19454	0	0.567892	0.33627	0	.	.	4.4	2.38	0.28415	0.967000	0.28941	4.027000	0.41303	0.606000	0.46413	0.994000	0.38300	1.000000	0.68203	0.101000	0.18331	0.0834:0.0:0.6125:0.3041	7.483	0.26588	982	0.03397	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	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007576	0.000000	0.001359	0.000000	0.000000	0.000000	0.024540	0.022727	0.02632	1691.33	39	chr21	46132472	.	G	A	1691.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.376;DP=790;ExcessHet=0;FS=4.118;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.44;ReadPosRankSum=3.75;SOR=1.154	GT:AD:DP:GQ:PL	0/1:38,59:97:99:1705,0,894	18	0	1	0
chr21	46302072	46302074	TGG	-	exonic	C21orf58	.	nonframeshift deletion	C21orf58:NM_001286463:exon7:c.576_578del:p.H193del,C21orf58:NM_001286462:exon8:c.576_578del:p.H193del,C21orf58:NM_001286476:exon8:c.576_578del:p.H193del,C21orf58:NM_001286477:exon8:c.576_578del:p.H193del,C21orf58:NM_058180:exon8:c.894_896del:p.H299del	.	376	628	428	81	9	599	0.31961	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0413	.	0.0100	0.0251	0.0057	0.0060	0	0.0039	0.0268	0.0110	0.0001153	3	26028	rs750021148	0.0011	0.0036	0.0011	0.0011	0.0223	0.0011	0.0010	0.0209	0.0203	0.0223	0.0031	0.0010	0.0006	0.0010	0.0016	0.0004	0.0023	0.0009	0.0057	0.0057	0.0060	0.0055	0.0197	0.0054	0.0053	0.0186	0.0181	0.0197	0	0.0021	0	0	0	0.0034	0.0002	0.0048	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	12675.9	39	chr21	46302071	.	ATGG	A	12675.9	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.294;DP=1028;ExcessHet=5.6906;FS=0;InbreedingCoeff=-0.2862;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.72;ReadPosRankSum=0.364;SOR=0.654	GT:AD:DP:GQ:PL	0/1:54,6:60:90:90,0,2173	18	0	1	0
chr22	17549561	17549561	C	T	exonic	CECR2	.	nonsynonymous SNV	CECR2:NM_001290046:exon17:c.C3782T:p.S1261L,CECR2:NM_001290047:exon17:c.C4274T:p.S1425L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.0079560247197	0.0016	0.000998403	0.0022	0.0005	0.0004	0	0.0010	0.0032	0.0078	0.0011	0.0012354	191	154602	rs142851999	0.0022	0.0022	0.0022	0.0022	0.0027	0.0021	0.0021	0.0026	0.0025	0.0002	0.0004	0	0	0.0007	0.0002	0.0027	0.0015	0.0008	0.0013	0.0013	0.0014	0.0012	0.0024	0.0012	0.0011	0.0021	0.0020	0.0003	0	0.0005	0	0	0.0009	0	0.0024	0.0009	0.0012	0.002	0.72154	D	0.025	0.62352	D	0.335	0.33330	B	0.058	0.26451	B	0.224799	0.16054	N	0.517985	0.930377	0.27073	N	2.28	0.64929	M	1.82	0.25018	T	-2.19	0.49352	N	0.248	0.28028	-1.0681	0.09836	T	0.045	0.19316	T	10	0.008553207	0.00194	T	0.007956	0.21110	T	0.045	0.12272	.	.	0.412328234245	0.40847	0.10050452112701154	0.09981	.	.	0.368603050709	0.20631	T	0.191634	0.54654	T	-0.419415	0.01725	T	-0.377973	0.35960	T	0.024786817327839	0.01244	T	0.825817	0.48860	T	0.15347047	0.34785	0.14781679	0.34965	0.15347047	0.34785	0.14781679	0.34965	-3.938	0.22873	T	.	.	0.094	0.15475	B	.;.;.;.	.;.;.;.	3.378711	0.46720	22.3	0.99613823642566079	0.74992	0.70297	0.34532	D	AEFDBI	0.268201	0.38474	N	-0.0579924294228354	0.39245	2.311293	0.00912095499935978	0.40136	2.390636	0.993936271990097	0.33417	0.67177	0.52595	0	0.588015	0.36545	0	0.702456	0.68683	0	0.564101	0.26826	0	.	.	4.73	4.73	0.59485	2.687000	0.46643	4.811000	0.45042	0.545000	0.25583	0.477000	0.26777	0.527000	0.25341	0.766000	0.36367	0.1621:0.8379:0.0:0.0	12.925	0.57650	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	0.001511	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1292.33	37	chr22	17549561	.	C	T	1292.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.979;DP=848;ExcessHet=0;FS=1.531;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.34;ReadPosRankSum=0.56;SOR=0.876	GT:AD:DP:GQ:PL	0/1:66,48:114:99:1306,0,1809	18	0	1	0
chr22	18157736	18157736	G	A	exonic	USP18	.	nonsynonymous SNV	USP18:NM_017414:exon2:c.G73A:p.D25N	.	425	1087	8	2	0	12	0.00548948	.	.	.	717291	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.017	.	0.0002	0.0113818	0.0066	9.614e-05	0.0006	0.0002	0	2.997e-05	0.0022	0.0475	0.0057373	887	154602	rs149306114	0.0027	0.0027	0.0014	0.0040	0.0435	0.0026	0.0026	0.0423	0.0418	0.0001	6.708e-05	0.0002	0.0001	0	0.0014	2.248e-05	0.0025	0.0435	0.0015	0.0015	0.0008	0.0022	0.0443	0.0013	0.0013	0.0395	0.0376	0.0002	0	0	0.0003	0	0	0	2.94e-05	0.0005	0.0443	0.006	0.61437	D	0.02	0.58613	D	0.244	0.31025	B	0.037	0.23121	B	0.109980	0.19461	N	0.416130	1	0.08975	N	0.695	0.17993	N	3.3	0.06368	T	-0.8	0.22078	N	0.154	0.15888	-0.9263	0.44673	T	0.008	0.02801	T	10	0.002385646	0.00035	T	.	.	.	0.017	0.02790	.	.	0.204665344411	0.20097	0.12566698284043726	0.12492	0.546934130114	0.51673	0.320371568203	0.13477	T	0.096575	0.39852	T	-0.674913	0.00051	T	-0.708661	0.05364	T	0.00801005041311881	0.00095	T	0.462854	0.13445	T	0.07477763	0.16804	0.040176682	0.04283	0.0670051	0.14468	0.040176682	0.04282	-3.81	0.20954	T	.	.	0.073	0.04723	B	.	.	0.869178	0.12421	8.954	0.98536696896807707	0.42670	0.07628	0.13636	N	AEFGBHCIJ	0.035259	0.04508	N	-1.00436552717558	0.08512	0.3994186	-1.04891728979656	0.08729	0.430634	0.999904197513726	0.45458	0.730579	0.87903	0	0.697927	0.68747	0	0.459711	0.06710	0	0.648885	0.59868	0	.	.	3.73	0.432	0.15742	0.425000	0.21065	3.014000	0.35974	0.618000	0.50648	0.042000	0.21073	0.844000	0.27327	0.006000	0.07323	0.228:0.2021:0.5699:0.0	3.861	0.08501	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	1	0	0	1	0	1	0	0.006546	0.000000	0.001359	0.002924	0.000000	0.008621	0.000000	0.026515	0.05263	2872.83	36	chr22	18157736	.	G	A	2872.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.39;DP=836;ExcessHet=0.119;FS=7.108;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.12;ReadPosRankSum=0.718;SOR=0.997	GT:AD:DP:GQ:PL	0/1:64,51:115:99:1391,0,1553	17	0	2	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	.	.	.	.	.	.	.	.	0.3611	1557.51	24	chr22	21216084	.	C	T	1557.51	.	AC=13;AF=0.361;AN=36;BaseQRankSum=2.24;DP=256;ExcessHet=13.8672;FS=0;InbreedingCoeff=-0.5792;MLEAC=14;MLEAF=0.389;MQ=46.12;MQRankSum=-2.189;QD=9.27;ReadPosRankSum=-0.593;SOR=0.681	GT:AD:DP:GQ:PL	0/1:7,3:10:95:95,0,192	5	0	13	1
chr22	23311788	23311788	-	CCGG	exonic	BCR	.	frameshift insertion	BCR:NM_021574:exon18:c.3142_3143insCCGG:p.V1050Rfs*17,BCR:NM_004327:exon19:c.3274_3275insCCGG:p.V1094Rfs*17	Leukemia, acute lymphocytic, somatic;Leukemia, chronic myeloid, somatic	25	583	905	9	0	923	0.441838	.	.	.	1196252	Chronic_myelogenous_leukemia,_BCR-ABL1_positive|not_provided	Human_Phenotype_Ontology:HP:0005506,Human_Phenotype_Ontology:HP:0005544,MONDO:MONDO:0011996,MeSH:D015464,MedGen:C0279543,OMIM:608232,Orphanet:521|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012679	33	26028	rs372013175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4211	10811.0	92	chr22	23311788	.	T	TCCGG	10811.0	.	AC=16;AF=0.421;AN=38;BaseQRankSum=0.736;DP=1944;ExcessHet=25.4433;FS=20.732;InbreedingCoeff=-0.7273;MLEAC=16;MLEAF=0.421;MQ=55.07;MQRankSum=-7.837;QD=6.32;ReadPosRankSum=-0.502;SOR=2.084	GT:AD:DP:GQ:PL	0/1:92,26:118:99:813,0,3745	3	0	16	0
chr22	23311830	23311830	G	A	exonic	BCR	.	nonsynonymous SNV	BCR:NM_021574:exon18:c.G3184A:p.D1062N,BCR:NM_004327:exon19:c.G3316A:p.D1106N	Leukemia, acute lymphocytic, somatic;Leukemia, chronic myeloid, somatic	59	994	464	5	0	474	0.192526	.	.	.	247185	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.231	0.0272677260962	.	.	.	.	.	.	.	.	.	.	.	.	.	rs879255379	3.426e-06	6.156e-06	5.454e-06	1.377e-06	2.994e-05	1e-06	7.3e-07	7.2e-07	2e-07	2.994e-05	2.236e-05	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.35726	T	0.018	0.59732	D	0.976	0.58310	D	0.752	0.56092	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.765	0.19305	N	2.66	0.12575	T	-3.28	0.65627	D	0.843	0.83885	-1.1463	0.01139	T	0.053	0.22423	T	10	0.81994617	0.81205	D	0.027268	0.50098	D	0.231	0.53208	.	.	0.600008996327	0.59681	0.3965005129848048	0.39565	2.73974519172	0.98685	0.815404891968	0.84322	D	0.308497	0.68058	T	-0.175721	0.24374	T	-0.490187	0.23372	T	0.916451156139374	0.57389	D	0.875712	0.89686	D	0.43747994	0.63240	0.3549618	0.61031	0.43747994	0.63240	0.3549618	0.61031	-6.831	0.53477	T	.	.	0.771	0.75988	P	.;.	.;.	5.927754	0.94089	33	0.99910446622876614	0.98022	0.98481	0.83233	D	AEFBI	0.912634	0.87354	D	0.533033419009816	0.69054	5.303049	0.562786706860508	0.72290	5.786788	0.9999990001556	0.74766	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.49	4.49	0.54177	9.664000	0.97881	6.611000	0.56088	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.953000	0.50222	0.0:0.0:1.0:0.0	16.632	0.84893	940	0.13648	Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2632	1588.18	67	chr22	23311830	.	G	A	1588.18	.	AC=10;AF=0.263;AN=38;BaseQRankSum=2.23;DP=1525;ExcessHet=6.9875;FS=13.257;InbreedingCoeff=-0.3449;MLEAC=9;MLEAF=0.237;MQ=57.55;MQRankSum=-9.775;QD=1.61;ReadPosRankSum=-3.64;SOR=2.209	GT:AD:DP:GQ:PL	0/1:91,9:100:14:14,0,2419	9	0	10	0
chr22	25359911	25359911	G	A	exonic	LRP5L	.	nonsynonymous SNV	LRP5L:NM_182492:exon1:c.C182T:p.T61M,LRP5L:NM_001135772:exon4:c.C182T:p.T61M	.	8	1491	22	1	0	24	0.00798403	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.505	.	0.007	0.00698882	0.0067	0.0025	0.0031	0	0.0032	0.0094	0.0077	0.0054	0.0069986	1082	154602	rs17616994	0.0092	0.0092	0.0092	0.0091	0.0107	0.0090	0.0090	0.0105	0.0105	0.0018	0.0032	0.0052	2.519e-05	0.0041	0.0047	0.0107	0.0067	0.0057	0.0053	0.0054	0.0058	0.0049	0.0088	0.0050	0.0049	0.0083	0.0080	0.0023	0	0.0029	0.0035	0.0002	0.0023	0.0034	0.0088	0.0033	0.0060	0.003	0.68238	D	0.023	0.57104	D	0.994	0.66517	D	0.793	0.57829	P	.	.	.	.	0.999468	0.47157	D	0.895	0.22405	L	-2.77	0.90904	D	-2.77	0.58733	D	0.649	0.72299	0.043	0.83097	D	0.437	0.77676	T	9	0.009141475	0.00207	T	.	.	.	0.505	0.78662	.	.	0.440394187108	0.43661	0.804302597219854	0.80384	0.301061417325	0.32454	.	.	.	0.359961	0.72628	T	-0.199259	0.20912	T	-0.0460242	0.67294	D	0.0411187928686381	0.03894	T	0.965703	0.87317	D	0.1210072	0.28462	0.2734422	0.53263	0.1210072	0.28462	0.2734422	0.53262	-5.198	0.38921	T	.	.	0.102	0.20819	B	.;.	.;.	1.844567	0.23437	16.02	0.99764491916807996	0.85335	0.95763	0.66050	D	AEFDGBI	0.697777	0.65567	D	0.154459331486858	0.49022	3.107435	0.0327252795487891	0.41244	2.47468	0.999959702095857	0.48110	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.491896	0.07777	0	.	.	1.88	1.88	0.24630	8.691000	0.91006	8.297000	0.76926	0.308000	0.19071	1.000000	0.71638	1.000000	0.68203	0.013000	0.09966	0.0:0.0:1.0:0.0	9.811	0.39992	939	0.14249	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006048	0.000000	0.006812	0.002924	0.000000	0.025862	0.006098	0.003788	0.05263	4788.83	39	chr22	25359911	.	G	A	4788.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.88;DP=968;ExcessHet=0.119;FS=0.384;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.05;ReadPosRankSum=1.4;SOR=0.734	GT:AD:DP:GQ:PL	0/1:89,89:178:99:2299,0,2106	17	0	2	0
chr22	27983502	27983504	TTC	-	exonic	TTC28	.	nonframeshift deletion	TTC28:NM_001145418:exon23:c.6163_6165del:p.E2055del	.	425	1089	8	0	0	8	0.00365965	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.164e-06	6.84e-06	5.656e-06	8.711e-06	7.421e-06	3.62e-06	2.64e-06	3.19e-06	2.31e-06	0	0	0	0	0	0	7.421e-06	3.465e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1789.29	54	chr22	27983501	.	ATTC	A	1789.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.05;DP=864;ExcessHet=0;FS=8.307;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.26;ReadPosRankSum=0.907;SOR=0.251	GT:AD:DP:GQ:PL	0/1:51,47:98:99:1803,0,1930	18	0	1	0
chr22	30636763	30636763	G	A	exonic	SLC35E4	.	nonsynonymous SNV	SLC35E4:NM_001001479:exon1:c.G313A:p.G105S,SLC35E4:NM_001318370:exon1:c.G313A:p.G105S,SLC35E4:NM_001318371:exon1:c.G313A:p.G105S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.0126571669457	.	0.000199681	8.999e-05	0	0	0.0001	0	0.0001	0	0.0001	7.12e-05	11	154602	rs547367556	0.0001	0.0001	0.0001	9.777e-05	0.0002	9.105e-05	8.611e-05	0.0001	9.465e-05	2.99e-05	0.0002	0	0	0	0.0002	0.0001	0.0001	0.0002	7.219e-05	7.217e-05	7.706e-05	6.711e-05	0.0004	3.967e-05	3.124e-05	7.29e-05	3.339e-05	0	0	0.0001	0	0	0	0	0.0001	0	0.0004	0.894	0.02712	T	0.948	0.02632	T	0.0	0.12996	B	0.001	0.06944	B	0.140890	0.18294	N	0.611291	1	0.08975	N	-0.525	0.02545	N	0.75	0.50192	T	0.76	0.01978	N	0.026	0.01274	-1.0098	0.26981	T	0.045	0.19275	T	10	0.018066049	0.00390	T	0.012657	0.31427	T	0.025	0.05312	.	.	0.0846915920261	0.08053	0.13516651783391653	0.13440	0.366955075449	0.38266	0.425296008587	0.28565	T	0.007159	0.06575	T	-0.429822	0.01486	T	-0.563037	0.16093	T	0.0236460347186353	0.01101	T	0.529047	0.17505	T	0.025779994	0.01554	0.04708854	0.06705	0.025779994	0.01554	0.04708854	0.06704	-4.982	0.36644	T	.	.	0.095	0.14888	B	.;.;.	.;.;.	0.532794	0.09013	5.797	0.82365906499175578	0.14154	0.03646	0.08897	N	AEFDBCI	0.031429	0.03361	N	-1.12737969502514	0.06160	0.2828348	-1.05783358043863	0.08545	0.4206247	0.999999918792955	0.74766	0.0	0.00013	3	0.405561	0.06353	1	0.584781	0.30282	0	0.372554	0.06265	0	.	.	5.48	2.0	0.25495	0.567000	0.23311	0.633000	0.20247	-0.138000	0.12486	0.001000	0.13787	0.000000	0.08366	0.710000	0.34452	0.3646:0.3432:0.2922:0.0	7.212	0.25115	584	0.69381	Sugar phosphate transporter domain;.;Sugar phosphate transporter domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2733.33	34	chr22	30636763	.	G	A	2733.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.03;DP=860;ExcessHet=0;FS=1.651;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.42;ReadPosRankSum=1.61;SOR=0.821	GT:AD:DP:GQ:PL	0/1:122,98:220:99:2747,0,3056	18	0	1	0
chr22	30935306	30935306	C	T	exonic	MORC2	.	nonsynonymous SNV	MORC2:NM_001303256:exon18:c.G1754A:p.R585H,MORC2:NM_001303257:exon18:c.G1754A:p.R585H,MORC2:NM_014941:exon19:c.G1568A:p.R523H	Charcot-Marie-Tooth disease, axonal, type 2Z, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	694710	Inborn_genetic_diseases|Charcot-Marie-Tooth_disease_axonal_type_2Z	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014736,MedGen:C5569025,OMIM:616688,Orphanet:466768	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.115	0.00544001946454	0.0002	0.000199681	0.0001	0.0001	0	0	0	0.0002	0	6.551e-05	0.0001229	19	154602	rs137983239	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0001	2.987e-05	8.952e-05	0.0027	0	0	0.0003	0.0001	0.0003	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0.0001	0.0001	7.899e-05	4.828e-05	0	0.0001	0.0037	0.0002	0	0	0.0002	0	0.0002	0.243	0.17526	T	0.267	0.22561	T	0.996	0.68779	D	0.732	0.55359	P	0.000000	0.84330	D	0.048632	0.998424	0.44899	D	0.665	0.16292	N	2.67	0.12473	T	-1.35	0.35597	N	0.333	0.37405	-1.1937	0.00203	T	0.052	0.22230	T	10	0.03091985	0.01222	T	0.00544	0.13984	T	0.115	0.32236	.	.	0.287411543184	0.28351	0.2007166281082292	0.19988	0.187802654429	0.21102	0.73128092289	0.71693	T	0.052532	0.29189	T	-0.366187	0.03792	T	-0.463455	0.26223	T	0.0881263613700867	0.10993	T	0.90111	0.65631	D	0.11677131	0.27538	0.09704016	0.23083	0.11677131	0.27538	0.09704016	0.23082	-5.248	0.39566	T	0.14339026437009214	0.16297	0.142	0.32969	B	.;.	.;.	4.020492	0.59374	24.1	0.991057276043667	0.52597	0.92593	0.56076	D	AEFBI	0.274958	0.39003	N	0.546871264793742	0.69891	5.421977	0.594861368874081	0.74569	6.159602	0.732118689777331	0.23065	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	4.068000	0.57252	7.701000	0.66289	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.995000	0.73285	0.1453:0.8547:0.0:0.0	14.584	0.67906	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	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	3825.33	35	chr22	30935306	.	C	T	3825.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.33;DP=916;ExcessHet=0;FS=0.923;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.91;ReadPosRankSum=1.09;SOR=0.616	GT:AD:DP:GQ:PL	0/1:135,140:275:99:3839,0,3021	18	0	1	0
chr22	32518325	32518325	C	T	exonic	SYN3	.	nonsynonymous SNV	SYN3:NM_001135774:exon13:c.G1325A:p.R442H,SYN3:NM_001369907:exon13:c.G1328A:p.R443H,SYN3:NM_001369908:exon13:c.G1328A:p.R443H,SYN3:NM_001369909:exon13:c.G1325A:p.R442H,SYN3:NM_001369910:exon13:c.G1325A:p.R442H,SYN3:NM_003490:exon13:c.G1328A:p.R443H	.	419	1093	9	1	0	11	0.00500683	.	.	.	717414	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.094	0.0087030977404	0.0062	0.00219649	0.0060	0.0018	0.0018	0.0001	0.0077	0.0080	0.0045	0.0056	0.0057891	895	154602	rs150768274	0.0063	0.0063	0.0061	0.0064	0.0075	0.0061	0.0061	0.0066	0.0065	0.0009	0.0030	0.0112	5.043e-05	0.0063	0.0075	0.0067	0.0066	0.0053	0.0056	0.0056	0.0054	0.0058	0.0082	0.0052	0.0051	0.0077	0.0074	0.0014	0	0.0048	0.0107	0.0004	0.0074	0.0068	0.0082	0.0076	0.0038	0.073	0.34800	T	0.12	0.36101	T	0.999	0.77913	D	0.869	0.61749	P	0.009162	0.30485	N	0.345538	0.998636	0.45197	D	2.045	0.56016	M	1.49	0.31470	T	-1.47	0.35991	N	0.517	0.54757	-1.0665	0.10200	T	0.074	0.29897	T	10	0.006853074	0.00156	T	0.008703	0.22976	T	0.094	0.27141	.	.	0.318133320967	0.31420	0.14561265996536915	0.14484	0.236893192368	0.26229	0.543343961239	0.44918	T	0.13947	0.47351	T	-0.356176	0.04351	T	-0.276437	0.47167	T	0.00908752332119205	0.00114	T	0.868313	0.59504	D	0.12555651	0.29431	0.061449558	0.11867	0.10187971	0.24067	0.061449558	0.11867	-4.249	0.27455	T	.	.	0.16	0.35372	B	.;.	.;.	3.770547	0.54161	23.5	0.99640675561552461	0.76633	0.94447	0.61195	D	AEFBI	0.537449	0.55525	D	0.586411051915731	0.72326	5.788126	0.594409636385116	0.74538	6.154089	0.0373536526606195	0.14293	0.732398	0.92422	0	0.573888	0.26702	0	0.743671	0.96076	0	0.564101	0.26826	0	.	.	5.66	4.6	0.56512	3.254000	0.51178	4.796000	0.44934	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.871:0.129:0.0	16.694	0.85189	619	0.66147	.;.	.	.	.	.	.	Likely benign	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	0.006042	0.005051	0.004076	0.002924	0.050000	0.008621	0.006098	0.011364	0.02632	695.33	37	chr22	32518325	.	C	T	695.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.93;DP=761;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.88;ReadPosRankSum=0.862;SOR=0.681	GT:AD:DP:GQ:PL	0/1:71,30:101:99:709,0,1707	18	0	1	0
chr22	32527932	32527932	C	T	exonic	SYN3	.	nonsynonymous SNV	SYN3:NM_133633:exon11:c.G1304A:p.R435H,SYN3:NM_001135774:exon12:c.G1301A:p.R434H,SYN3:NM_001369907:exon12:c.G1304A:p.R435H,SYN3:NM_001369908:exon12:c.G1304A:p.R435H,SYN3:NM_001369909:exon12:c.G1301A:p.R434H,SYN3:NM_001369910:exon12:c.G1301A:p.R434H,SYN3:NM_003490:exon12:c.G1304A:p.R435H	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	0.0179804660117	0.0005	0.000199681	0.0006	0.0002	0.0003	0	0	0.0011	0.0059	0	0.0003105	48	154602	rs199645736	0.0008	0.0008	0.0008	0.0007	0.0010	0.0007	0.0007	0.0009	0.0009	3.037e-05	0.0002	0	0	1.941e-05	0.0009	0.0010	0.0005	0	0.0004	0.0004	0.0004	0.0003	0.0008	0.0003	0.0003	0.0006	0.0005	0.0001	0	0.0002	0	0	0	0	0.0008	0	0	0.011	0.78490	D	0.039	0.51112	D	0.48	0.36739	P	0.03	0.21741	B	0.002824	0.35868	N	0.236256	0.996875	0.43474	D	2.395	0.69210	M	1.35	0.37405	T	-2.31	0.78472	N	0.474	0.50958	-0.9614	0.38916	T	0.085	0.33014	T	10	0.04774937	0.04134	T	0.01798	0.39885	T	0.111	0.31313	.	.	0.324576393752	0.32066	0.20805776001510187	0.20721	0.236893192368	0.26229	0.555180847645	0.46587	T	0.456618	0.79531	T	-0.317582	0.07098	T	-0.318116	0.42782	T	0.213563963770866	0.21138	T	0.929907	0.74113	D	0.10419879	0.24632	0.09019874	0.21137	0.10419879	0.24631	0.09019874	0.21137	-5.023	0.37089	T	.	.	0.240	0.48376	B	.;.;.	.;.;.	4.830232	0.78760	27.0	0.99699052029150781	0.80522	0.53571	0.29404	D	AEFDBHCI	0.190870	0.31809	N	0.141825611936674	0.48424	3.054974	0.196547489142893	0.49658	3.166322	0.999901014495432	0.45458	0.626454	0.40138	0	0.478664	0.06816	1	0.80507	0.99327	0	0.542086	0.14980	0	.	.	4.67	3.62	0.40616	3.090000	0.49888	4.778000	0.44817	0.596000	0.33519	0.990000	0.36992	1.000000	0.68203	0.656000	0.32857	0.0:0.8956:0.0:0.1044	8.957	0.34986	632	0.64850	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	959.33	33	chr22	32527932	.	C	T	959.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.655;DP=714;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.79;ReadPosRankSum=0.244;SOR=0.712	GT:AD:DP:GQ:PL	0/1:36,39:75:99:973,0,900	18	0	1	0
chr22	35082535	35082535	C	T	exonic	ISX	.	nonsynonymous SNV	ISX:NM_001303508:exon3:c.C247T:p.R83W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.836	0.367245381024	.	.	3.298e-05	9.615e-05	0	0.0001	0	3.001e-05	0	0	2.59e-05	4	154602	rs745340391	4.378e-05	4.378e-05	4.084e-05	4.676e-05	0.0007	3.509e-05	3.193e-05	0.0002	0.0001	0.0001	0.0001	0	0	0	0.0007	3.508e-05	0.0001	3.478e-05	0.0001	0.0001	0.0001	9.416e-05	0.0003	7.578e-05	6.282e-05	0.0001	9.938e-05	0.0002	0	0.0003	0	0	0	0	4.409e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000205	0.47681	D	0.000000	0.999904	0.50806	D	4.395	0.98631	H	-4.35	0.97292	D	-7.78	0.95870	D	0.914	0.91621	1.079	0.98856	D	0.967	0.98938	D	10	0.90205884	0.89568	D	0.367245	0.92658	D	0.836	0.94840	0.534	0.64293	0.952901093887	0.95239	0.4525461995484037	0.45172	0.0679534120877	0.07611	0.565159499645	0.47995	T	0.645537	0.89180	D	0.320998	0.84544	D	0.449016	0.93557	D	0.991719365119934	0.82049	D	0.977102	0.91996	D	0.83880067	0.86523	0.6642366	0.80316	0.83880067	0.86524	0.6642366	0.80317	-10.993	0.79620	D	.	.	0.463	0.62854	A	.;.	.;.	4.140116	0.62018	24.4	0.99443876580018264	0.64921	0.85627	0.44780	D	AEFGBI	0.554872	0.56554	D	0.140109475314329	0.48343	3.047862	-0.0691037464532252	0.36676	2.137386	0.00118831832434189	0.08314	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.94	0.16	0.14261	0.117000	0.15414	-0.132000	0.11608	-1.041000	0.01665	0.019000	0.19563	0.159000	0.23246	0.900000	0.43643	0.6977:0.3023:0.0:0.0	13.360	0.60090	961	0.08552	Homeobox domain|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|Homeobox domain|Homeobox domain|Homeobox domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1258.33	38	chr22	35082535	.	C	T	1258.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.285;DP=1207;ExcessHet=0;FS=4.216;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.46;ReadPosRankSum=0.196;SOR=1.229	GT:AD:DP:GQ:PL	0/1:40,47:87:99:1272,0,971	18	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	.	.	.	.	.	.	.	.	0.07895	1043.79	39	chr22	36227655	.	C	A	1043.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-5.684;DP=1698;ExcessHet=0.3672;FS=130.109;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=1.1;ReadPosRankSum=1.58;SOR=10.43	GT:AD:DP:GQ:PL	0/1:231,69:300:99:435,0,5867	16	0	3	0
chr22	38682432	38682432	A	G	exonic	TOMM22	.	nonsynonymous SNV	TOMM22:NM_020243:exon2:c.A227G:p.K76R	.	0	224	2	0	0	2	0.00444444	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.402	0.0530367961043	7.7e-05	.	0.0002	0.0002	0	0	0	0.0004	0	0.0002	0.0002005	31	154602	rs144614555	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	5.974e-05	0	0.0019	0	7.49e-05	0	0.0002	0.0003	0.0003	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	0.0001	0.0002	0.0001	9.656e-05	0	0	0.0020	0	9.423e-05	0	0.0003	0	0	0.269	0.16091	T	0.248	0.23845	T	0.999	0.77913	D	0.966	0.71341	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	3.09	0.87444	M	.	.	.	-1.59	0.38345	N	0.2	0.22098	-0.1417	0.79123	T	0.457	0.78872	T	9	0.05865103	0.06929	T	0.053037	0.65308	D	0.402	0.71558	.	.	0.409069985131	0.40521	0.4947102426998851	0.49392	0.718610679393	0.62102	0.748560249805	0.74234	T	0.139588	0.47369	T	-0.0543263	0.43789	T	-0.0154885	0.69325	D	0.293455451726913	0.24733	T	0.730127	0.34567	T	0.35078353	0.57128	0.22174244	0.46995	0.35078353	0.57129	0.22174244	0.46994	-4.22	0.27040	T	.	.	0.130	0.27998	B	.	.	4.892187	0.80333	27.3	0.99828092720263095	0.91026	0.94228	0.60504	D	AEBCI	0.890882	0.82633	D	0.714501635042143	0.80583	7.326432	0.6716073211418	0.80229	7.252622	0.999999999991067	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	5.25	5.25	0.73169	5.420000	0.66180	10.982000	0.84611	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	1.0:0.0:0.0:0.0	15.138	0.72264	814	0.42100	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1776.33	39	chr22	38682432	.	A	G	1776.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.988;DP=765;ExcessHet=0;FS=0.687;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.8;ReadPosRankSum=0.644;SOR=0.607	GT:AD:DP:GQ:PL	0/1:49,71:120:99:1790,0,1370	18	0	1	0
chr22	39649779	39649779	G	C	exonic	CACNA1I	.	nonsynonymous SNV	CACNA1I:NM_001003406:exon9:c.G1741C:p.D581H,CACNA1I:NM_021096:exon10:c.G1846C:p.D616H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.328	0.254232193759	.	0.000798722	0.0003	0	0	0.0028	0	9.699e-05	0.0056	0.0002	0.000194	30	154602	rs376280976	0.0002	0.0002	0.0002	0.0002	0.0049	0.0002	0.0002	0.0043	0.0041	0	0.0002	0	0.0049	0	0.0003	4.236e-05	0.0002	0.0002	0.0004	0.0004	0.0003	0.0005	0.0029	0.0003	0.0003	0.0018	0.0014	0	0	0.0021	0	0.0029	0	0	8.821e-05	0.0005	0.0002	0.126	0.27544	T	0.109	0.37449	T	0.846	0.56202	P	0.568	0.55653	P	.	.	.	.	1	0.08975	N	1.5	0.37844	L	-4.1	0.96772	D	-1.52	0.38151	N	0.341	0.39558	0.302	0.87585	D	0.829	0.94274	D	9	0.018936932	0.00417	T	0.254232	0.89243	D	0.328	0.65026	0.333	0.32005	0.79263677779	0.79070	0.3294763649525741	0.32860	1.55342139038	0.87936	0.564474701881	0.47899	T	0.022851	0.17544	T	-0.197954	0.21101	T	-0.0761383	0.65184	T	0.101666132546159	0.12539	T	0.761424	0.38629	T	0.06623455	0.14232	0.09287983	0.21909	0.06623455	0.14232	0.09287983	0.21909	-3.304	0.14629	T	.	.	0.087	0.18080	B	.;.;.;.	.;.;.;.	2.707542	0.35383	19.88	0.95842216399390046	0.27968	0.44642	0.27363	N	AEFBI	0.271002	0.38695	N	-0.243173783669057	0.31376	1.758717	-0.365976070487161	0.26020	1.434533	0.517524282649979	0.21068	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	3.78	2.76	0.31527	6.511000	0.73644	3.280000	0.37224	0.676000	0.76740	0.998000	0.41325	0.736000	0.26449	0.026000	0.12556	0.098:0.0:0.902:0.0	11.024	0.46953	878	0.29785	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001011	0.000000	0.000000	0.000000	0.000000	0.000000	0.003067	0.003788	0.02632	1388.33	35	chr22	39649779	.	G	C	1388.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.633;DP=767;ExcessHet=0;FS=1.548;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.51;ReadPosRankSum=0.69;SOR=0.534	GT:AD:DP:GQ:PL	0/1:56,55:111:99:1402,0,1535	18	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	0.07895	10652.8	34	chr22	42514716	.	G	A	10652.8	.	AC=3;AF=0.079;AN=38;BaseQRankSum=2.72;DP=2512;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=52.01;MQRankSum=-2.908;QD=9.12;ReadPosRankSum=0.635;SOR=0.72	GT:AD:DP:GQ:PL	0/1:224,142:366:99:3392,0,5451	16	0	3	0
chr22	43555069	43555069	G	A	exonic	EFCAB6	.	nonsynonymous SNV	EFCAB6:NM_198856:exon25:c.C2992T:p.P998S,EFCAB6:NM_022785:exon27:c.C3448T:p.P1150S	.	429	1044	45	4	0	53	0.0247548	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	.	0.0048	0.00339457	0.0063	0.0012	0.0046	0.0001	0.0002	0.0070	0.0088	0.0134	0.0063065	975	154602	rs34344550	0.0064	0.0064	0.0060	0.0068	0.0385	0.0063	0.0062	0.0343	0.0327	0.0017	0.0056	0.0239	2.519e-05	0.0004	0.0385	0.0058	0.0085	0.0142	0.0052	0.0052	0.0051	0.0052	0.0116	0.0049	0.0048	0.0092	0.0083	0.0012	0.0121	0.0074	0.0262	0.0002	0.0008	0.0408	0.0062	0.0114	0.0116	0.019	0.50132	D	0.044	0.50514	D	0.782	0.44333	P	0.327	0.41976	B	0.017104	0.27806	N	0.331763	0.988932	0.40856	D	2.135	0.59519	M	2.53	0.14038	T	-2.12	0.48184	N	0.359	0.40063	-1.0884	0.05804	T	0.026	0.11176	T	10	0.005732	0.00128	T	.	.	.	0.053	0.14996	.	.	0.460438652622	0.45667	0.17847128462516607	0.17766	0.289139264481	0.31319	0.345039188862	0.17189	T	0.005845	0.05287	T	-0.524154	0.00416	T	-0.514657	0.20838	T	0.0161385539555044	0.00390	T	0.679032	0.28770	T	0.08406054	0.19440	0.12487603	0.30094	0.08406054	0.19439	0.12487603	0.30093	-3.395	0.14990	T	.	.	0.376	0.58167	A	.;.	.;.	3.640759	0.51624	23.1	0.99251523262501273	0.56891	0.89131	0.49414	D	AEFDBI	0.519927	0.54500	D	0.0774063705510916	0.45409	2.798018	0.167255593261242	0.48063	3.02744	0.719762785863193	0.22917	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.88	4.88	0.63131	3.159000	0.50430	9.379000	0.80502	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.629000	0.32131	0.0:0.0:1.0:0.0	14.877	0.70142	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	0.032729	0.040404	0.028533	0.052632	0.000000	0.068966	0.033537	0.022727	0.07895	6636.79	36	chr22	43555069	.	G	A	6636.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.821;DP=1128;ExcessHet=0.3672;FS=0.527;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=12.67;ReadPosRankSum=-0.389;SOR=0.643	GT:AD:DP:GQ:PL	0/1:109,98:207:99:2511,0,2997	16	0	3	0
chr22	43773055	43773055	A	G	exonic	EFCAB6	.	nonsynonymous SNV	EFCAB6:NM_022785:exon4:c.T188C:p.I63T	.	428	1055	38	1	0	40	0.0186047	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.182	.	0.0048	0.00319489	0.0056	0.0007	0.0023	0.0001	0.0003	0.0065	0.0055	0.0124	0.0057373	887	154602	rs146421624	0.0065	0.0065	0.0061	0.0068	0.0300	0.0064	0.0063	0.0263	0.0249	0.0011	0.0028	0.0119	5.038e-05	0.0008	0.0300	0.0064	0.0074	0.0135	0.0042	0.0042	0.0045	0.0039	0.0104	0.0039	0.0038	0.0081	0.0073	0.0010	0.0110	0.0036	0.0092	0.0002	0.0009	0.0272	0.0062	0.0061	0.0104	0.079	0.33753	T	0.005	0.72224	D	0.981	0.59675	D	0.617	0.51308	P	0.003033	0.35542	N	0.173599	0.601787	0.81001	D	2.32	0.66415	M	2.04	0.20808	T	-2.32	0.51478	N	0.628	0.64223	-1.1185	0.02428	T	0.062	0.25672	T	10	0.008963555	0.00203	T	.	.	.	0.182	0.45420	.	.	0.493021045079	0.48934	0.5101307854422429	0.50935	0.357239125746	0.37449	0.620053529739	0.55737	T	0.020141	0.15912	T	-0.354042	0.04478	T	-0.270302	0.47788	T	0.0448903567107127	0.04583	T	0.678032	0.28700	T	0.120966405	0.28454	0.11955649	0.28857	0.120966405	0.28454	0.11955649	0.28856	-5.444	0.41340	T	.	.	0.616	0.69555	P	.	.	4.178121	0.62878	24.5	0.99826203494951415	0.90852	0.91616	0.53901	D	AEDGI	0.651482	0.62522	D	0.488562649464887	0.66418	4.947908	0.493774951963598	0.67576	5.102637	0.99999733931667	0.74766	0.615755	0.39536	0	0.618376	0.53248	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	4.92	4.92	0.64147	4.774000	0.62033	10.789000	0.83761	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	11.111	0.47456	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	0.020645	0.005051	0.014946	0.038012	0.000000	0.051724	0.030488	0.018939	0.05263	2923.83	37	chr22	43773055	.	A	G	2923.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.08;DP=835;ExcessHet=0.119;FS=1.054;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=0.649;SOR=0.6	GT:AD:DP:GQ:PL	0/1:57,55:112:99:1479,0,1536	17	0	2	0
chr22	43884270	43884270	G	A	exonic	PNPLA5	.	nonsynonymous SNV	PNPLA5:NM_001177675:exon5:c.C683T:p.T228M,PNPLA5:NM_001371410:exon7:c.C605T:p.T202M,PNPLA5:NM_138814:exon7:c.C1025T:p.T342M	.	423	1091	8	0	0	8	0.00365297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	0.0154404495991	0.0003	0.000199681	0.0010	9.662e-05	0.0041	0	0.0003	0.0008	0.0056	0.0003	0.0008473	131	154602	rs181818400	0.0005	0.0005	0.0005	0.0005	0.0065	0.0004	0.0004	0.0048	0.0043	0.0009	0.0026	0.0024	0.0002	7.524e-05	0.0065	0.0003	0.0015	0.0003	0.0006	0.0006	0.0006	0.0006	0.0012	0.0005	0.0005	0.0008	0.0006	0.0005	0	0.0012	0.0032	0.0002	9.414e-05	0.0306	0.0004	0.0014	0.0004	0.045	0.78490	D	0.025	0.76473	D	1.0	0.90584	D	0.926	0.75477	D	0.061347	0.22178	N	0.286793	1	0.08975	N	2.395	0.69210	M	1.24	0.50976	T	-3.65	0.69950	D	0.337	0.48963	-0.9246	0.44915	T	0.199	0.55400	T	10	0.012504518	0.00268	T	0.01544	0.36172	T	0.111	0.31313	.	.	0.482792760554	0.47910	0.4760699081606957	0.47526	0.53814913595	0.51084	0.521456360817	0.41832	T	0.064491	0.32447	T	-0.388814	0.02738	T	-0.336519	0.40739	T	0.050207135631826	0.05536	T	0.814619	0.46840	T	0.055182192	0.10690	0.08356641	0.19160	0.055182192	0.10690	0.08356641	0.19160	-7.503	0.57631	D	.	.	0.124	0.30686	B	.;.;.;.;.	.;.;.;.;.	2.916333	0.38697	20.8	0.99422712835649218	0.63838	0.08577	0.14487	N	AEFDBCI	0.056450	0.10437	N	-0.201482110444897	0.33073	1.872307	-0.451132740740565	0.23516	1.282862	0.722477744473555	0.22949	0.695654	0.57023	0	0.491513	0.07743	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	4.11	0.586	0.16618	2.429000	0.44415	0.766000	0.21355	0.618000	0.50648	0.395000	0.26129	0.000000	0.08366	0.112000	0.18829	0.1079:0.1763:0.5101:0.2058	2.501	0.04350	886	0.28090	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005539	0.020202	0.004076	0.011696	0.000000	0.000000	0.000000	0.000000	0.02632	985.33	34	chr22	43884270	.	G	A	985.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.14;DP=695;ExcessHet=0;FS=2.113;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.4;ReadPosRankSum=0.515;SOR=0.829	GT:AD:DP:GQ:PL	0/1:28,36:64:99:999,0,621	18	0	1	0
chr22	43884304	43884304	G	C	exonic	PNPLA5	.	nonsynonymous SNV	PNPLA5:NM_001177675:exon5:c.C649G:p.R217G,PNPLA5:NM_001371410:exon7:c.C571G:p.R191G,PNPLA5:NM_138814:exon7:c.C991G:p.R331G	.	429	1079	1	0	13	14	0.000463177	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.0105007851262	0.0015	0.00179712	0.0014	0.0034	0.0012	0	0	0.0015	0.0023	0.0011	0.0012484	193	154602	rs148896213	0.0011	0.0011	0.0010	0.0011	0.0305	0.0010	0.0010	0.0268	0.0253	0.0039	0.0014	0.0002	0	0.0004	0.0305	0.0009	0.0023	0.0010	0.0018	0.0018	0.0018	0.0018	0.0034	0.0016	0.0015	0.0029	0.0027	0.0034	0	0.0012	0.0003	0	0.0005	0.0340	0.0012	0.0033	0.0008	0.405	0.46910	T	0.196	0.58089	T	0.249	0.41275	B	0.081	0.40506	B	0.743806	0.06444	N	1.192680	1	0.08975	N	1.855	0.49169	L	1.41	0.44461	T	-3.6	0.69950	D	0.338	0.37923	-1.0486	0.14790	T	0.061	0.25419	T	10	0.004383564	0.00089	T	0.010501	0.27109	T	0.076	0.22200	.	.	0.341460817117	0.33762	0.28422708678200204	0.28335	0.219144547618	0.24453	0.274892568588	0.06791	T	0.043256	0.26443	T	-0.462846	0.00943	T	-0.439096	0.28910	T	0.0368602888373502	0.03132	T	0.545645	0.18668	T	0.09420593	0.22145	0.12430613	0.29963	0.09420593	0.22144	0.12430613	0.29962	-4.071	0.24861	T	.	.	0.077	0.16010	B	.;.;.;.;.	.;.;.;.;.	1.209471	0.16023	12.27	0.87138616959113779	0.17015	0.10227	0.15792	N	AEFDBCI	0.059976	0.11365	N	-0.715946997227853	0.15574	0.7860263	-0.827677575654239	0.13825	0.719296	0.825105346048427	0.24593	0.646311	0.45356	0	0.491513	0.07743	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.01	1.83	0.24279	0.865000	0.27595	0.154000	0.15327	-0.161000	0.11593	0.003000	0.16062	0.000000	0.08366	0.089000	0.17737	0.2506:0.0:0.7494:0.0	6.151	0.19529	886	0.28090	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.019134	0.020202	0.023098	0.032164	0.000000	0.034483	0.012195	0.007576	0.02632	458.33	34	chr22	43884304	.	G	C	458.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.242;DP=694;ExcessHet=0;FS=1;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.39;ReadPosRankSum=0.831;SOR=0.866	GT:AD:DP:GQ:PL	0/1:39,23:62:99:472,0,1040	18	0	1	0
chr22	49997475	49997475	T	C	exonic	IL17REL	.	nonsynonymous SNV	IL17REL:NM_001371417:exon13:c.A1102G:p.M368V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	932.33	35	chr22	49997475	.	T	C	932.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.074;DP=729;ExcessHet=0;FS=2.032;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.71;ReadPosRankSum=-1.764;SOR=0.425	GT:AD:DP:GQ:PL	0/1:36,32:68:99:946,0,1103	18	0	1	0
chrX	6534452	6534452	C	T	exonic	VCX3A	.	nonsynonymous SNV	VCX3A:NM_016379:exon2:c.G46A:p.E16K	.	.	.	.	.	.	.	.	.	.	.	2388448	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.073	0.00132810261481	.	.	0.0007	0	0	0	0	0.0011	0	0	2.59e-05	4	154602	rs746632375	8.275e-05	8.14e-05	0.0001	1.248e-05	0.0009	6.668e-05	6.115e-05	0.0002	6.777e-05	5.689e-05	0	0	0	0	0.0009	9.43e-05	8.099e-05	7.137e-05	0.0001	9.271e-05	0.0001	0	0.0002	5.134e-05	3.612e-05	8.952e-05	6.303e-05	0	0	0	0	0	0	0	0.0002	0	0	0.072	0.34982	T	0.204	0.41074	T	0.593	0.39147	P	0.486	0.47228	P	.	.	.	.	1	0.08975	N	2.175	0.60977	M	1.92	0.23082	T	-0.53	0.18670	N	0.109	0.09490	-1.0101	0.26886	T	0.065	0.27017	T	8	0.04806927	0.04208	T	0.001328	0.01885	T	0.073	0.21317	.	.	0.043077524339	0.03247	0.0029771461695881412	0.00277	0.300067500273	0.32371	0.541169524193	0.44610	T	0.007641	0.07033	T	-0.465886	0.00903	T	-0.606666	0.12257	T	0.0699243590100992	0.08640	T	0.749125	0.39166	T	0.17093545	0.37697	0.13464552	0.32259	0.17093545	0.37697	0.13464552	0.32258	-0.882	0.00878	T	.	.	0.098	0.34470	B	.;.;.	.;.;.	1.374587	0.17849	13.41	0.97106849071177426	0.32392	0.00279	0.01508	N	AEFI	.	.	.	.	.	.	.	.	.	1.29614668542816E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.492	0.492	0.16081	1.722000	0.37665	-2.529000	0.03644	0.205000	0.17943	0.002000	0.15269	0.000000	0.08366	0.001000	0.02609	.	.	.	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	.	.	.	.	.	.	.	.	0.02941	271.62	4	chrX	6534452	.	C	T	271.62	.	AC=1;AF=0.029;AN=34;BaseQRankSum=2.13;DP=100;ExcessHet=0;FS=11.553;InbreedingCoeff=-0.0597;MLEAC=1;MLEAF=0.029;MQ=30.3;MQRankSum=2.31;QD=20.89;ReadPosRankSum=-0.146;SOR=1.132	GT:AD:DP:GQ:PL	0/1:4,9:13:76:284,0,76	16	0	1	2
chrX	7843935	7843935	G	A	exonic	VCX	.	nonsynonymous SNV	VCX:NM_013452:exon3:c.G540A:p.M180I	.	440	1017	39	24	2	89	0.0410184	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.00381956062632	.	.	1.211e-05	0	0	0	0	0	0	0.0001	.	.	.	rs1442009414	1.574e-05	1.807e-05	2.003e-05	6.3e-06	0.0004	9.32e-06	7.54e-06	6.74e-06	2.52e-06	0	3.03e-05	0	0	0	0.0004	7.673e-06	0.0001	4.064e-05	1.357e-05	9.629e-06	1.673e-05	0	2.698e-05	0	0	.	.	0	0	0	0	0	0	0	2.698e-05	0	0	0.537	0.13522	T	0.189	0.28575	T	0.003	0.11197	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.69	0.16971	N	2.49	0.15028	T	0.75	0.03090	N	0.06	0.06720	-0.9948	0.31352	T	0.020	0.08453	T	8	0.059325248	0.07112	T	0.00382	0.08930	T	0.016	0.02506	0.238	0.16912	0.0675242888579	0.06100	0.0037184822678514124	0.00347	0.389394466878	0.40179	0.478400975466	0.35836	T	0.005901	0.05345	T	-0.500087	0.00571	T	-0.898467	0.00513	T	0.00677568680755279	0.00076	T	0.550145	0.18957	T	0.15520553	0.35089	0.13471262	0.32274	0.15520553	0.35089	0.13471262	0.32273	-3.325	0.14061	T	.	.	0.204	0.42920	B	.;.	.;.	0.030819	0.04500	1.206	0.38071555930487633	0.02546	0.00628	0.02764	N	AEFI	.	.	.	.	.	.	.	.	.	1.37404227553736E-5	0.02871	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.511000	0.22445	-0.733000	0.07653	0.086000	0.17587	0.001000	0.13787	0.000000	0.08366	0.012000	0.09680	1.0E-4:0.0:0.6505:0.3494	4.761	0.12481	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	0.000807	0.000000	0.001883	0.000000	0.000000	0.000000	0.000000	0.000000	0.03846	3751.21	367	chrX	7843935	.	G	A	3751.21	.	AC=1;AF=0.038;AN=26;BaseQRankSum=0.619;DP=3803;ExcessHet=0.4139;FS=34.487;InbreedingCoeff=0.0077;MLEAC=1;MLEAF=0.038;MQ=47.37;MQRankSum=9.02;QD=7.72;ReadPosRankSum=-1.948;SOR=1.575	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:161,153:314:99:0|1:7843935_G_A:3762,0,3728:7843935	12	0	1	6
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	.	.	.	.	.	.	.	.	0.1842	1000.93	34	chrX	10469688	.	G	A	1000.93	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-3.75;DP=1491;ExcessHet=2.9153;FS=112.758;InbreedingCoeff=-0.2319;MLEAC=7;MLEAF=0.184;MQ=60;MQRankSum=0;QD=1.15;ReadPosRankSum=1.26;SOR=10.224	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:126,37:163:99:0|1:10469688_G_A:383,0,4424:10469688	12	0	7	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	.	.	.	.	.	.	.	.	0.2778	1584.05	171	chrX	10469690	.	T	C	1584.05	.	AC=10;AF=0.278;AN=36;BaseQRankSum=-4.023;DP=1724;ExcessHet=6.9875;FS=123.179;InbreedingCoeff=-0.382;MLEAC=10;MLEAF=0.278;MQ=60;MQRankSum=0;QD=1.24;ReadPosRankSum=1.35;SOR=10.876	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:128,37:165:99:0|1:10469688_G_A:377,0,4503:10469688	8	0	10	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	.	.	.	.	.	.	.	.	0.1389	586.59	37	chrX	10469693	.	T	C	586.59	.	AC=5;AF=0.139;AN=36;BaseQRankSum=-4.473;DP=1398;ExcessHet=1.3;FS=110.107;InbreedingCoeff=-0.1633;MLEAC=5;MLEAF=0.139;MQ=60;MQRankSum=0;QD=1;ReadPosRankSum=1.41;SOR=9.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:128,38:166:99:0|1:10469688_G_A:384,0,4501:10469688	13	0	5	1
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	.	.	.	.	.	.	.	.	0.1	40.52	107	chrX	49039321	.	G	A	40.52	.	AC=3;AF=0.1;AN=30;BaseQRankSum=-1.307;DP=1069;ExcessHet=0.3672;FS=260.807;InbreedingCoeff=-0.1459;MLEAC=2;MLEAF=0.067;MQ=60;MQRankSum=0;QD=0.15;ReadPosRankSum=-0.514;SOR=8.349	GT:AD:DP:GQ:PL	0/1:74,21:95:10:10,0,1073	12	0	3	4
chrX	50346733	50346733	A	G	exonic	CCNB3	.	nonsynonymous SNV	CCNB3:NM_033670:exon5:c.A424G:p.I142V,CCNB3:NM_033031:exon10:c.A3736G:p.I1246V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00462534875046	.	.	.	.	.	.	.	.	.	.	.	.	.	rs889284693	2.733e-06	2.732e-06	4.084e-06	0	2.376e-06	7.3e-07	2e-07	4e-07	1.5e-07	0	0	0	0	0	0	2.376e-06	2.17e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.474	0.08384	T	0.46	0.12597	T	0.095	0.26349	B	0.122	0.32387	B	0.337645	0.14013	N	0.717108	0.99999	0.08975	N	0.725	0.18768	N	2.82	0.10871	T	-0.25	0.11008	N	0.106	0.09066	-0.9379	0.42947	T	0.019	0.08033	T	9	0.11059928	0.20677	T	0.004625	0.11440	T	0.048	0.13305	0.511	0.60846	0.325139982731	0.32122	0.3259361624968847	0.32506	0.159137384698	0.17961	0.353891730309	0.18493	T	0.020976	0.16419	T	-0.518412	0.00449	T	-0.98244	0.00176	T	0.075951412320137	0.09462	T	0.407159	0.10452	T	0.039897695	0.05595	0.049212784	0.07471	0.039897695	0.05595	0.049212784	0.07471	-3.681	0.19038	T	.	.	0.121	0.25000	B	.;.;.;.	.;.;.;.	0.756034	0.11259	7.886	0.35788432321241032	0.02266	0.57837	0.30482	D	AEFGI	.	.	.	.	.	.	.	.	.	1.05382091034331E-4	0.05123	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.79	2.34	0.28071	2.458000	0.44671	-0.005000	0.13145	-0.101000	0.15936	0.978000	0.35038	0.000000	0.08366	0.006000	0.07323	0.7158:0.0:0.2842:0.0	7.281	0.25486	356	0.85138	Cyclin, N-terminal|Cyclin-like|Cyclin-like;.;Cyclin, N-terminal|Cyclin-like|Cyclin-like;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.000688	0.000000	0.000000	0.000000	0.000000	0.000000	0.004425	0.000000	0.02632	1680.33	36	chrX	50346733	.	A	G	1680.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.02;DP=770;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.45;ReadPosRankSum=-1.157;SOR=0.649	GT:AD:DP:GQ:PL	0/1:64,71:135:99:1694,0,1715	18	0	1	0
chrX	50607726	50607726	-	C	exonic	SHROOM4	.	frameshift insertion	SHROOM4:NM_020717:exon6:c.3415dupG:p.E1139Gfs*39	.	103	1386	25	8	0	41	0.0145752	.	.	.	135753	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	no_assertion_criteria_provided	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0022	0.0009	0.0021	0	0.0017	0.0032	0.0049	0.0003	0.0005763	15	26028	rs587780460	0.0048	0.0056	0.0056	0.0030	0.0160	0.0047	0.0046	0.0129	0.0117	0.0007	0.0032	0.0385	0.0014	0.0025	0.0160	0.0044	0.0072	0.0022	0.0061	0.0058	0.0062	0.0055	0.0073	0.0056	0.0055	0.0067	0.0064	0.0010	0	0.0054	0.0573	0.0010	0.0026	0.0343	0.0073	0.0105	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	1481.79	36	chrX	50607726	.	T	TC	1481.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.24;DP=809;ExcessHet=0.119;FS=3.547;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13;ReadPosRankSum=3.31;SOR=0.485	GT:AD:DP:GQ:PL	0/1:34,21:55:99:641,0,1124	17	0	2	0
chrX	50607728	50607728	-	CC	exonic	SHROOM4	.	frameshift insertion	SHROOM4:NM_020717:exon6:c.3413_3414insGG:p.E1140Kfs*42	.	119	884	227	240	52	759	0.285657	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023	0.0008	0.0022	0	0.0026	0.0032	0.0055	0.0002	0.0006531	17	26028	rs143151534	0.0056	0.0057	0.0060	0.0048	0.0188	0.0055	0.0055	0.0152	0.0139	0.0009	0.0036	0.0445	0.0016	0.0028	0.0188	0.0052	0.0083	0.0031	0.0054	0.0055	0.0058	0.0044	0.0065	0.0051	0.0049	0.0059	0.0057	0.0010	0	0.0048	0.0503	0.0009	0.0024	0.0284	0.0065	0.0092	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	14499.4	36	chrX	50607728	.	T	TCC	14499.4	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.679;DP=857;ExcessHet=0.0125;FS=0.589;InbreedingCoeff=0.4737;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=31.25;ReadPosRankSum=-0.14;SOR=0.647	GT:AD:DP:GQ:PL	0/1:0,21:47:99:2387,1002,1085	17	0	2	0
chrX	53077075	53077075	G	C	exonic	GPR173	.	nonsynonymous SNV	GPR173:NM_018969:exon2:c.G454C:p.V152L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	0.0074081988025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.177	0.22224	T	0.346	0.17696	T	0.041	0.21357	B	0.06	0.26717	B	0.000028	0.55875	D	0.069320	1	0.81001	D	1.385	0.34509	L	1.42	0.33189	T	-0.83	0.22727	N	0.145	0.14622	-1.0790	0.07543	T	0.043	0.18493	T	10	0.16943079	0.31550	T	0.007408	0.19657	T	0.145	0.38592	0.551	0.66716	0.8224510869	0.82077	0.924068375058971	0.92383	0.76704590817	0.64561	0.728399157524	0.71273	T	0.03919	0.25102	T	-0.0282635	0.47669	T	-0.278375	0.46971	T	0.626440465450287	0.37471	D	0.933007	0.74900	D	0.37251803	0.58770	0.30431813	0.56460	0.37251803	0.58771	0.30431813	0.56459	-2.317	0.04650	T	.	.	0.216	0.44553	B	.	.	3.682569	0.52423	23.2	0.977164141373697	0.35531	0.96234	0.68153	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.99999999999672	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.17	4.17	0.48303	3.344000	0.51892	9.950000	0.82721	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	13.085	0.58551	323	0.86843	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1113.33	35	chrX	53077075	.	G	C	1113.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.372;DP=808;ExcessHet=0;FS=8.87;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.1;ReadPosRankSum=0.062;SOR=0.918	GT:AD:DP:GQ:PL	0/1:46,39:85:99:1127,0,1326	18	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	.	.	.	.	.	.	.	.	0.1579	4403.4	547	chrX	55146088	.	G	T	4403.4	.	AC=6;AF=0.158;AN=38;BaseQRankSum=0.5;DP=11340;ExcessHet=2.0135;FS=0;InbreedingCoeff=-0.1875;MLEAC=6;MLEAF=0.158;MQ=60;MQRankSum=0;QD=1.15;ReadPosRankSum=0.409;SOR=0.729	GT:AD:DP:GQ:PL	0/1:634,71:705:99:99,0,21195	13	0	6	0
chrX	55146104	55146104	G	A	exonic	FAM104B	.	stopgain	FAM104B:NM_001166700:exon3:c.C331T:p.R111X,FAM104B:NM_001166701:exon3:c.C328T:p.R110X,FAM104B:NM_001166702:exon3:c.C319T:p.R107X,FAM104B:NM_001166703:exon3:c.C325T:p.R109X	.	438	7	893	184	0	1261	0.98902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.0042	0	0	0.0002	7.025e-05	0	0.0001	0.0310669	4803	154602	rs1047054	7.297e-06	9.106e-06	9.533e-06	2.762e-06	3.791e-05	3.14e-06	2.27e-06	6.14e-06	2.3e-06	3.791e-05	0	0	0	0	0	5.942e-06	0	3.701e-05	1.802e-05	1.746e-05	1.286e-05	3.013e-05	0.0004	2.99e-06	1.12e-06	.	.	3.282e-05	0	0	0	0	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.984587	0.24787	N	.	.	.	.	.	.	.	.	.	0.121	0.18512	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334032	0.85436	D	0.242037	0.85245	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	4.503254	0.70449	25.5	0.92570320911590998	0.22025	0.23489	0.22092	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999986651300857	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	0.637	0.16907	1.269000	0.32677	-0.938000	0.06858	0.596000	0.33519	1.000000	0.71638	0.000000	0.08366	0.291000	0.24285	0.0:0.0:0.6198:0.3802	4.504	0.11285	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.069015	0.068027	0.074212	0.055556	0.000000	0.094118	0.048673	0.068421	0.6053	329440.0	742	chrX	55146104	.	G	A	329440.0	.	AC=23;AF=0.605;AN=38;BaseQRankSum=1.47;DP=13074;ExcessHet=20.8569;FS=0;InbreedingCoeff=-0.6522;MLEAC=23;MLEAF=0.605;MQ=60;MQRankSum=0;QD=26.15;ReadPosRankSum=0.694;SOR=0.726	GT:AD:DP:GQ:PL	0/1:115,621:736:99:20754,0,1174	0	4	15	0
chrX	55146139	55146139	G	A	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166700:exon3:c.C296T:p.T99I,FAM104B:NM_001166701:exon3:c.C293T:p.T98I,FAM104B:NM_001166702:exon3:c.C284T:p.T95I,FAM104B:NM_001166703:exon3:c.C290T:p.T97I	.	392	597	530	3	0	536	0.309827	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00183666452811	.	.	1.173e-05	0	0	0	0	2.144e-05	0	0	0.0003842	10	26028	rs111573608	0	2.735e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	8.719e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	1.2	0.37405	T	1.24	0.01024	N	0.218	0.30461	-0.9951	0.31272	T	0.031	0.13330	T	9	0.02422443	0.00659	T	0.001837	0.03193	T	0.027	0.05988	.	.	0.107399877778	0.10242	0.2636019881297539	0.26273	0.0855686498455	0.09666	.	.	.	.	.	.	-0.525263	0.00410	T	-0.99228	0.00154	T	0.0269564041948217	0.01537	T	0.618838	0.26722	T	.	.	.	.	.	.	.	.	-2.987	0.10042	T	.	.	0.077	0.10159	B	.;.;.	.;.;.	-0.509590	0.01836	0.146	0.55558757236298129	0.05367	0.01261	0.04425	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999998720991634	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	-3.2	0.04838	0.118000	0.15436	-7.508000	0.01142	-0.947000	0.02050	0.987000	0.36337	0.000000	0.08366	0.919000	0.45453	0.5556:0.0:0.4444:0.0	6.324	0.20437	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.018776	0.006803	0.014842	0.027668	0.000000	0.023529	0.022124	0.021053	0.3529	32831.5	791	chrX	55146139	.	G	A	32831.5	.	AC=12;AF=0.353;AN=34;BaseQRankSum=0.454;DP=12869;ExcessHet=11.1788;FS=0;InbreedingCoeff=-0.52;MLEAC=13;MLEAF=0.382;MQ=60;MQRankSum=0;QD=4.02;ReadPosRankSum=0.955;SOR=0.672	GT:AD:DP:GQ:PL	0/1:653,101:754:99:907,0,21879	5	0	12	2
chrX	55146173	55146173	G	A	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166700:exon3:c.C262T:p.P88S,FAM104B:NM_001166701:exon3:c.C259T:p.P87S,FAM104B:NM_001166702:exon3:c.C250T:p.P84S,FAM104B:NM_001166703:exon3:c.C256T:p.P86S	.	395	510	614	3	0	620	0.378049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00397070644289	.	.	0	0	0	0	0	0	0	0	0.0018057	47	26028	rs113745415	0	9.135e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	8.72e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.1	0.44029	T	0.019	0.59159	D	0.137	0.27402	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	.	.	.	1.03	0.40469	T	-0.15	0.09297	N	0.133	0.30461	-1.0449	0.15854	T	0.046	0.19680	T	9	0.10664967	0.19773	T	0.003971	0.09400	T	0.021	0.04004	.	.	0.0986583533028	0.09354	0.17703511721202211	0.17622	0.085900391515	0.09707	.	.	.	.	.	.	-0.47977	0.00741	T	-0.926933	0.00345	T	0.15306082367897	0.17345	T	0.714029	0.35027	T	.	.	.	.	.	.	.	.	-2.918	0.09324	T	.	.	0.099	0.18247	B	.;.;.	.;.;.	1.416818	0.18331	13.68	0.99268186498303135	0.57457	0.22113	0.21636	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999986653019121	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	0.635	0.16895	0.918000	0.28299	0.017000	0.13531	0.596000	0.33519	0.999000	0.42656	0.000000	0.08366	0.033000	0.13494	0.0:0.0:0.6213:0.3787	4.527	0.11390	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.011073	0.020408	0.009276	0.003953	0.000000	0.035294	0.013274	0.005263	0.3684	42799.2	721	chrX	55146173	.	G	A	42799.2	.	AC=14;AF=0.368;AN=38;BaseQRankSum=0.643;DP=12126;ExcessHet=17.0548;FS=0.637;InbreedingCoeff=-0.5833;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=4.7;ReadPosRankSum=-0.029;SOR=0.782	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:593,109:702:99:.:.:1743,0,19994:.	5	0	14	0
chrX	55146197	55146197	G	A	exonic	FAM104B	.	stopgain	FAM104B:NM_001166699:exon3:c.C238T:p.Q80X,FAM104B:NM_001166700:exon3:c.C238T:p.Q80X,FAM104B:NM_001166701:exon3:c.C235T:p.Q79X,FAM104B:NM_001166702:exon3:c.C226T:p.Q76X,FAM104B:NM_001166703:exon3:c.C232T:p.Q78X,FAM104B:NM_138362:exon3:c.C235T:p.Q79X	.	397	483	637	5	0	647	0.401116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.0037	0.0002	0.0034	0.0004	0.0003	0	0.0012	0.0033426	87	26028	rs113263757	2.052e-05	0.0007	3.012e-05	0	0.0002	1.343e-05	1.147e-05	5.37e-05	3.17e-05	0.0002	0	0	0.0001	0	0	1.458e-05	4.432e-05	1.939e-05	0	5.238e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.066869	0.21780	U	0.325359	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.281	0.36359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166988	0.70845	D	0.00208969	0.70471	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant;.;Tolerant;.;.	High;.;High;.;.	5.479427	0.91365	32	0.96222129513840093	0.29091	0.25851	0.22822	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999994922950989	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	1.6	0.22686	1.881000	0.39273	1.530000	0.27153	0.596000	0.33519	0.820000	0.29989	0.004000	0.18990	0.022000	0.11911	0.0:0.0:1.0:0.0	6.091	0.19219	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.038244	0.034014	0.051948	0.011858	0.000000	0.058824	0.026549	0.036842	0.3889	38022.8	651	chrX	55146197	.	G	A	38022.8	.	AC=14;AF=0.389;AN=36;BaseQRankSum=1.95;DP=10894;ExcessHet=17.0548;FS=0;InbreedingCoeff=-0.617;MLEAC=14;MLEAF=0.389;MQ=60;MQRankSum=0;QD=4.79;ReadPosRankSum=-0.18;SOR=0.757	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:535,93:628:99:.:.:1466,0,18555:.	4	0	14	1
chrX	55146212	55146212	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G223A:p.D75N,FAM104B:NM_001166700:exon3:c.G223A:p.D75N,FAM104B:NM_001166701:exon3:c.G220A:p.D74N,FAM104B:NM_001166702:exon3:c.G211A:p.D71N,FAM104B:NM_001166703:exon3:c.G217A:p.D73N,FAM104B:NM_138362:exon3:c.G220A:p.D74N	.	432	10	1015	52	13	1132	0.982441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.00302221843962	.	0.0013245	0.0001	0.0014	0	0	0	2.118e-05	0	0	0.0081067	211	26028	rs1047042	4.61e-06	4.563e-06	5.457e-06	2.843e-06	3.873e-05	1.35e-06	9.8e-07	6.25e-06	2.34e-06	3.873e-05	0	5.196e-05	0	0	0	1.202e-06	0	3.766e-05	9.039e-06	8.741e-06	1.287e-05	0	9.612e-05	0	0	.	.	0	0	9.612e-05	0	0	0	0	0	0	0	0.675	0.04495	T	1.0	0.06345	T	0.003	0.11197	B	0.0	0.04355	B	0.171170	0.17370	N	0.505297	1	0.08975	P	-0.49	0.02651	N	1.04	0.40218	T	0.87	0.01688	N	0.132	0.13626	-1.0454	0.15709	T	0.035	0.15160	T	9	0.0060353875	0.00136	T	0.003022	0.06487	T	0.012	0.01476	0.247	0.18293	0.0806252709748	0.07271	0.0651596601341745	0.06454	0.0775316632676	0.08717	0.25642067194	0.04473	T	0.008956	0.08187	T	-0.596363	0.00153	T	-1.09441	0.00031	T	0.0048729239977625	0.00052	T	0.519848	0.16911	T	0.03745953	0.04805	0.041539483	0.04745	0.03745953	0.04805	0.041539483	0.04745	-3.393	0.14963	T	.	.	0.058	0.00614	B	.;.;.;.;.	.;.;.;.;.	-0.711233	0.01295	0.069	0.1342819324597182	0.00264	0.00118	0.00744	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999988775956904	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-1.04	0.09555	0.059000	0.14199	-2.996000	0.03156	-0.242000	0.07441	0.003000	0.16062	0.000000	0.08366	0.015000	0.10482	0.0:0.4679:0.0:0.5321	4.225	0.10030	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	248356.0	575	chrX	55146212	.	C	T	248356.0	.	AC=19;AF=0.5;AN=38;BaseQRankSum=2.62;DP=10110;ExcessHet=48.2876;FS=1.42;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=60;MQRankSum=0;QD=26;ReadPosRankSum=1.35;SOR=0.54	GT:AD:DP:GQ:PL	0/1:130,431:561:99:14557,0,2124	0	0	19	0
chrX	55146242	55146242	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G193A:p.G65S,FAM104B:NM_001166700:exon3:c.G193A:p.G65S,FAM104B:NM_001166701:exon3:c.G190A:p.G64S,FAM104B:NM_001166702:exon3:c.G181A:p.G61S,FAM104B:NM_001166703:exon3:c.G187A:p.G63S,FAM104B:NM_138362:exon3:c.G190A:p.G64S	.	381	695	446	0	0	446	0.242919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.00575512673883	.	.	1.14e-05	0	0	0	0	0	0	9.881e-05	0.0002199	34	154602	rs751109928	9.107e-07	9.105e-07	1.361e-06	0	1.847e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.847e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.496	0.08685	T	0.847	0.04029	T	0.988	0.62325	D	0.931	0.76916	D	0.181380	0.17093	N	0.523101	1	0.08975	N	-0.405	0.02972	N	1.06	0.39781	T	0.88	0.01688	N	0.111	0.10340	-1.0096	0.27043	T	0.074	0.29897	T	10	0.024912208	0.00703	T	0.005755	0.14922	T	0.094	0.27141	0.117	0.02508	0.124217242631	0.12060	0.06545832632961472	0.06484	0.113139730866	0.12771	0.240586742759	0.02843	T	0.003551	0.02960	T	-0.539992	0.00335	T	-0.863145	0.00810	T	0.0237543456519899	0.01114	T	0.722728	0.37993	T	0.05084061	0.09248	0.06469397	0.13002	0.05084061	0.09248	0.06469397	0.13002	-2.72	0.09386	T	.	.	0.081	0.08176	B	.;.;.;.;.	.;.;.;.;.	0.646134	0.10147	6.889	0.73921017372164155	0.10504	0.01488	0.04944	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999986279423699	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	0.436	0.15762	0.673000	0.24883	0.315000	0.17124	-0.343000	0.05659	0.980000	0.35271	0.000000	0.08366	0.977000	0.56843	0.0:0.3059:0.0:0.6941	2.954	0.05513	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2778	10743.0	426	chrX	55146242	.	C	T	10743.0	.	AC=10;AF=0.278;AN=36;BaseQRankSum=1.85;DP=7675;ExcessHet=6.9875;FS=0;InbreedingCoeff=-0.3818;MLEAC=10;MLEAF=0.278;MQ=60;MQRankSum=0;QD=2.82;ReadPosRankSum=-0.553;SOR=0.701	GT:AD:DP:GQ:PL	0/1:329,121:450:99:2631,0,11329	8	0	10	1
chrX	55146247	55146247	G	C	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.C188G:p.P63R,FAM104B:NM_001166700:exon3:c.C188G:p.P63R,FAM104B:NM_001166701:exon3:c.C185G:p.P62R,FAM104B:NM_001166702:exon3:c.C176G:p.P59R,FAM104B:NM_001166703:exon3:c.C182G:p.P61R,FAM104B:NM_138362:exon3:c.C185G:p.P62R	.	398	590	530	4	0	538	0.313155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.0130273709953	.	.	.	.	.	.	.	.	.	.	0.0032657	85	26028	rs111638770	9.115e-07	9.107e-07	1.361e-06	0	1.848e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.848e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.006	0.72224	D	0.752	0.77913	P	0.071	0.79672	B	0.181519	0.17089	U	0.482281	1	0.18198	N	1.79	0.46772	L	0.49	0.55775	T	-6.46	0.91956	D	0.329	0.36989	-0.9561	0.39898	T	0.213	0.57334	T	10	0.25765532	0.43183	T	0.013027	0.32109	T	0.133	0.36157	0.439	0.49321	0.176091768786	0.17195	0.15725273701375614	0.15646	0.462644719079	0.45794	0.299729704857	0.10360	T	0.09323	0.39168	T	-0.104812	0.35627	T	-0.388332	0.34746	T	0.953682541847229	0.64085	D	0.80372	0.51656	T	0.38991144	0.60026	0.48550862	0.70220	0.38991144	0.60026	0.48550862	0.70221	-3.385	0.15177	T	.	.	0.146	0.32275	B	.;.;.;.;.	.;.;.;.;.	2.836954	0.37416	20.5	0.99573153193770736	0.72501	0.41324	0.26632	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999994922950989	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	1.6	0.22686	2.239000	0.42728	2.405000	0.32612	0.596000	0.33519	0.999000	0.42656	0.987000	0.30940	0.973000	0.55318	0.0:0.0:1.0:0.0	6.091	0.19219	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.013879	0.020408	0.018553	0.003953	0.000000	0.023529	0.013274	0.005263	0.3684	25836.2	418	chrX	55146247	.	G	C	25836.2	.	AC=14;AF=0.368;AN=38;BaseQRankSum=-1.026;DP=7388;ExcessHet=17.0548;FS=0;InbreedingCoeff=-0.5833;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=4.88;ReadPosRankSum=0.405;SOR=0.751	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:370,52:422:99:0|1:55146247_G_C:1002,0,15175:55146247	5	0	14	0
chrX	55146252	55146252	-	T	exonic	FAM104B	.	frameshift insertion	FAM104B:NM_001166699:exon3:c.182_183insA:p.S61Rfs*13,FAM104B:NM_001166700:exon3:c.182_183insA:p.S61Rfs*13,FAM104B:NM_001166701:exon3:c.179_180insA:p.S60Rfs*13,FAM104B:NM_001166702:exon3:c.170_171insA:p.S57Rfs*13,FAM104B:NM_001166703:exon3:c.176_177insA:p.S59Rfs*13,FAM104B:NM_138362:exon3:c.179_180insA:p.S60Rfs*13	.	390	569	526	3	34	566	0.318563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	25152.2	407	chrX	55146252	.	A	AT	25152.2	.	AC=14;AF=0.368;AN=38;BaseQRankSum=2.19;DP=7127;ExcessHet=17.0548;FS=0;InbreedingCoeff=-0.5833;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=4.93;ReadPosRankSum=0.184;SOR=0.72	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:351,52:403:99:0|1:55146247_G_C:1059,0,14537:55146247	5	0	14	0
chrX	55146254	55146254	T	C	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.A181G:p.S61G,FAM104B:NM_001166700:exon3:c.A181G:p.S61G,FAM104B:NM_001166701:exon3:c.A178G:p.S60G,FAM104B:NM_001166702:exon3:c.A169G:p.S57G,FAM104B:NM_001166703:exon3:c.A175G:p.S59G,FAM104B:NM_138362:exon3:c.A178G:p.S60G	.	431	15	1050	26	0	1102	0.973498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.0041360361776	.	.	0	0	0	0	0	0	0	0	0.0095666	249	26028	rs1047037	9.142e-07	4.651e-05	1.362e-06	0	1.191e-06	0	0	.	.	0	0	0	0	0	0	1.191e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.115	0.36630	T	0.18	0.29046	B	0.013	0.26930	B	0.022656	0.26593	N	0.266251	1	0.08975	N	1.125	0.28843	L	0.62	0.53302	T	-3.25	0.65972	D	0.165	0.17691	-1.0460	0.15534	T	0.083	0.32556	T	10	0.08577216	0.14513	T	0.004136	0.09900	T	0.075	0.21907	0.066	0.00312	0.141422826196	0.13715	0.08695167493373998	0.08629	0.0811463258042	0.09130	0.299347400665	0.10303	T	0.051814	0.28986	T	-0.403148	0.02207	T	-0.816871	0.01517	T	0.062755441338216	0.07595	T	0.529347	0.19916	T	0.15294263	0.34692	0.18436645	0.41484	0.15294263	0.34692	0.18436645	0.41484	-4.147	0.26024	T	.	.	0.074	0.04932	B	.;.;.;.;.	.;.;.;.;.	0.505601	0.08746	5.521	0.88816084291515585	0.18278	0.01111	0.04064	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999988486351367	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-0.917	0.09952	0.342000	0.19669	0.018000	0.13546	0.587000	0.30956	0.001000	0.13787	0.000000	0.08366	0.925000	0.46118	0.0:0.4736:0.0:0.5264	4.198	0.09911	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	119400.0	395	chrX	55146254	.	T	C	119400.0	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.566;DP=7115;ExcessHet=48.2876;FS=6.049;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.09;ReadPosRankSum=-1.393;SOR=0.475	GT:AD:DP:GQ:PL	0/1:165,222:387:99:6564,0,5003	0	0	19	0
chrX	55146256	55146256	G	-	exonic	FAM104B	.	frameshift deletion	FAM104B:NM_001166699:exon3:c.179delC:p.A60Efs*8,FAM104B:NM_001166700:exon3:c.179delC:p.A60Efs*8,FAM104B:NM_001166701:exon3:c.176delC:p.A59Efs*8,FAM104B:NM_001166702:exon3:c.167delC:p.A56Efs*8,FAM104B:NM_001166703:exon3:c.173delC:p.A58Efs*8,FAM104B:NM_138362:exon3:c.176delC:p.A59Efs*8	.	387	620	513	2	0	517	0.294252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	24097.2	397	chrX	55146255	.	TG	T	24097.2	.	AC=14;AF=0.368;AN=38;BaseQRankSum=1.27;DP=6566;ExcessHet=17.0548;FS=0;InbreedingCoeff=-0.5833;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=4.91;ReadPosRankSum=-0.283;SOR=0.712	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:344,51:395:99:0|1:55146247_G_C:1074,0,14286:55146247	5	0	14	0
chrX	55146275	55146275	T	G	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.A160C:p.I54L,FAM104B:NM_001166700:exon3:c.A160C:p.I54L,FAM104B:NM_001166701:exon3:c.A157C:p.I53L,FAM104B:NM_001166702:exon3:c.A148C:p.I50L,FAM104B:NM_001166703:exon3:c.A154C:p.I52L,FAM104B:NM_138362:exon3:c.A157C:p.I53L	.	427	21	1052	22	0	1096	0.963093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.0118030854457	.	.	1.142e-05	0	0	0	0	2.088e-05	0	0	0.0196828	3043	154602	rs1047034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.051	0.47828	T	0.105	0.26966	B	0.068	0.39904	B	0.152569	0.17919	U	0.451659	1	0.08975	N	1.955	0.52871	M	0.27	0.59176	T	-1.83	0.45042	N	0.551	0.57690	-0.8632	0.51032	T	0.155	0.48687	T	10	0.1871016	0.34206	T	0.011803	0.29782	T	0.098	0.28162	0.189	0.09907	0.0884992946249	0.08302	0.12338101866159702	0.12264	0.0928677804986	0.10486	0.449103206396	0.31821	T	0.163737	0.50891	T	-0.214808	0.18708	T	-0.546333	0.17678	T	0.224603921175003	0.21691	T	0.758424	0.38228	T	0.50850886	0.67592	0.29124478	0.55149	0.50850886	0.67593	0.29124478	0.55148	-2.996	0.10138	T	.	.	0.123	0.25689	B	.;.;.;.;.	.;.;.;.;.	1.130701	0.15173	11.64	0.8192711395344332	0.13930	0.34538	0.25091	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999989777015944	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-1.26	0.08892	0.742000	0.25884	-6.329000	0.01429	-0.214000	0.08267	1.000000	0.71638	0.000000	0.08366	0.065000	0.16320	0.0:0.5197:0.0:0.4803	4.529	0.11402	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.000688	0.000000	0.000000	0.000000	0.000000	0.000000	0.004425	0.000000	0.5	119815.0	315	chrX	55146275	.	T	G	119815.0	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-0.969;DP=5611;ExcessHet=48.2876;FS=13.766;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.27;ReadPosRankSum=-3.985;SOR=0.493	GT:AD:DP:GQ:PL	0/1:103,207:310:99:6522,0,2593	0	0	19	0
chrX	69957088	69957088	G	A	exonic	EDA	.	nonsynonymous SNV	EDA:NM_001005609:exon2:c.G458A:p.R153H,EDA:NM_001005612:exon2:c.G458A:p.R153H,EDA:NM_001399:exon2:c.G458A:p.R153H	Ectodermal dysplasia 1, hypohidrotic, X-linked, X-linked recessive;Tooth agenesis, selective, X-linked 1, X-linked dominant	3	1482	20	17	0	54	0.0178926	.	.	YES	689535	Hypohidrotic_X-linked_ectodermal_dysplasia|not_provided	MONDO:MONDO:0010585,MedGen:C0162359,OMIM:305100,Orphanet:181,Orphanet:238468|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.246	.	0.0012	0.00741722	0.0031	0	0.0008	0.0002	0	0.0022	0.0034	0.0166	0.00315	487	154602	rs140642493	0.0023	0.0023	0.0021	0.0028	0.0147	0.0022	0.0022	0.0138	0.0135	0.0002	0.0004	0.0088	0.0002	0.0004	0.0099	0.0016	0.0030	0.0147	0.0015	0.0015	0.0014	0.0017	0.0183	0.0013	0.0012	0.0143	0.0128	0.0002	0.0015	0.0003	0.0072	0.0006	0.0002	0.0046	0.0015	0.0007	0.0183	0.275	0.15770	T	0.173	0.30241	T	0.0	0.02946	B	0.001	0.04355	B	0.821062	0.09178	N	0.924022	0.994938	0.23410	N	0.205	0.09354	N	-0.67	0.92057	T	-0.16	0.17003	N	0.087	0.06454	-0.8272	0.53480	T	0.518	0.81951	D	10	0.005271256	0.00115	T	.	.	.	0.246	0.55340	.	.	0.866956307199	0.86566	0.6767630153420616	0.67615	0.96505907527	0.73146	0.261357486248	0.05054	T	0.386253	0.74746	T	-0.487023	0.00675	T	-0.460675	0.26526	T	0.0145842664323862	0.00299	T	0.80172	0.44782	T	0.1535102	0.34792	0.14223276	0.33844	0.1783368	0.38847	0.13442135	0.32209	-4.449	0.30441	T	0.14235047450396582	0.16091	0.062	0.22024	B	.;.;.;.;.	.;.;.;.;.	0.573432	0.09421	6.199	0.87504351889101417	0.17275	0.10421	0.15933	N	AEFI	.	.	.	.	.	.	.	.	.	0.0237221591358734	0.13528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.97	-4.47	0.03278	-0.327000	0.07998	-1.031000	0.06547	-1.373000	0.01168	0.814000	0.29906	0.000000	0.08366	0.926000	0.46234	0.768:0.0:0.232:0.0	13.526	0.61051	162	0.93704	.;.;.;.;.	.	.	.	.	.	Uncertain significance	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	0.008299	0.000000	0.007435	0.011858	0.000000	0.000000	0.008850	0.015789	0.02632	657.33	34	chrX	69957088	.	G	A	657.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.904;DP=681;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.67;ReadPosRankSum=-1.016;SOR=0.619	GT:AD:DP:GQ:PL	0/1:41,27:68:99:671,0,1093	18	0	1	0
chrX	75274469	75274469	C	T	exonic	UPRT	.	nonsynonymous SNV	UPRT:NM_001307944:exon1:c.C215T:p.S72F,UPRT:NM_145052:exon1:c.C215T:p.S72F	.	431	1079	8	4	0	16	0.00735971	.	.	.	1196408	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.067	0.00866531453799	0.0006	.	0.0005	0	0.0009	0	0	0.0008	0	0.0001	0.0004592	71	154602	rs144630001	0.0007	0.0007	0.0006	0.0007	0.0215	0.0006	0.0006	0.0179	0.0166	0.0005	0.0007	0.0055	0	0	0.0215	0.0005	0.0019	0.0002	0.0004	0.0004	0.0004	0.0004	0.0005	0.0003	0.0003	0.0003	0.0003	9.734e-05	0	0.0003	0.0030	0	0	0.0139	0.0005	0.0026	0	0.01	0.57480	D	0.035	0.53426	D	0.019	0.17989	B	0.023	0.19966	B	0.000290	0.00554	N	3.815970	1	0.08975	N	0	0.06538	N	.	.	.	-1.08	0.28497	N	0.161	0.16864	-1.0704	0.09326	T	0.049	0.20868	T	9	0.0054303706	0.00120	T	0.008665	0.22878	T	0.067	0.19503	.	.	0.043077524339	0.03247	0.23397083950401912	0.23312	0.189411528645	0.21256	0.329345345497	0.14835	T	0.181773	0.53355	T	-0.606822	0.00132	T	-0.73238	0.04221	T	0.0238014036086912	0.01120	T	0.751225	0.37284	T	0.06055136	0.12439	0.08877476	0.20720	0.06055136	0.12439	0.08877476	0.20719	-5.924	0.45639	T	.	.	0.085	0.11845	B	.;.	.;.	1.378445	0.17898	13.43	0.97081343485066285	0.32281	0.02092	0.06211	N	AEFDGBHCI	.	.	.	.	.	.	.	.	.	0.999999999216082	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.14	-2.19	0.06621	-0.090000	0.11129	.	.	-0.206000	0.08541	0.000000	0.06391	.	.	0.251000	0.23288	0.1261:0.2219:0.2448:0.4072	1.506	0.02337	197	0.92378	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.018711	0.000000	0.025974	0.039526	0.000000	0.023529	0.004425	0.000000	0.02632	2835.33	37	chrX	75274469	.	C	T	2835.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.31;DP=898;ExcessHet=0;FS=0.996;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.81;ReadPosRankSum=1.55;SOR=0.791	GT:AD:DP:GQ:PL	0/1:131,109:240:99:2849,0,3558	18	0	1	0
chrX	102749723	102749723	C	G	exonic	ARMCX5-GPRASP2;BHLHB9	.	nonsynonymous SNV	BHLHB9:NM_001142530:exon2:c.C728G:p.P243R,BHLHB9:NM_001142529:exon3:c.C728G:p.P243R,BHLHB9:NM_030639:exon3:c.C728G:p.P243R,BHLHB9:NM_001142524:exon4:c.C728G:p.P243R,BHLHB9:NM_001142525:exon4:c.C728G:p.P243R,BHLHB9:NM_001142526:exon4:c.C728G:p.P243R,BHLHB9:NM_001142527:exon4:c.C728G:p.P243R,BHLHB9:NM_001142528:exon4:c.C728G:p.P243R,ARMCX5-GPRASP2:NM_001350270:exon6:c.C728G:p.P243R,ARMCX5-GPRASP2:NM_001350269:exon7:c.C728G:p.P243R,ARMCX5-GPRASP2:NM_001350268:exon8:c.C728G:p.P243R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.0208531724619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	5.463e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.49613	D	0.008	0.67890	D	0.845	0.46707	P	0.467	0.46683	P	0.207240	0.16453	N	0.512028	1	0.08975	N	2.77	0.80896	M	2.77	0.11407	T	-0.32	0.12283	N	0.204	0.22742	-1.0229	0.22769	T	0.011	0.04369	T	9	0.10330346	0.18984	T	0.020853	0.43523	T	0.071	0.20720	0.179	0.08626	0.0986583533028	0.09354	0.1323248924144818	0.13157	0.398697379634	0.40922	0.338050365448	0.16146	T	0.012816	0.11196	T	-0.347705	0.04873	T	-0.73723	0.04008	T	0.203076422214508	0.20584	T	0.569643	0.20265	T	0.060111605	0.12295	0.08432909	0.19391	0.060111605	0.12295	0.08432909	0.19391	-3.4	0.15057	T	.	.	0.098	0.16363	B	.;.;.;.;.	.;.;.;.;.	2.108049	0.26822	17.25	0.95735756095129698	0.27684	0.05020	0.10801	N	AEFDGBI	.	.	.	.	.	.	.	.	.	4.13537104595771E-4	0.06899	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.5	0.643	0.16942	1.132000	0.31031	.	.	0.597000	0.34315	0.008000	0.17931	0.030000	0.21233	0.540000	0.29938	0.1862:0.4232:0.1778:0.2128	0.974	0.01332	253	0.90069	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02778	55.72	37	chrX	102749723	.	C	G	55.72	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-3.635;DP=1001;ExcessHet=0;FS=85.004;InbreedingCoeff=-0.0418;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=0.46;ReadPosRankSum=2.19;SOR=6.592	GT:AD:DP:GQ:PL	0/1:95,26:121:69:69,0,2673	17	0	1	1
chrX	105219566	105219566	T	C	exonic	TEX13A	.	nonsynonymous SNV	TEX13A:NM_001291277:exon3:c.A628G:p.M210V,TEX13A:NM_031274:exon3:c.A628G:p.M210V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.0011478810771	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-05	1.366e-05	1.635e-05	8.285e-06	1.782e-05	8.22e-06	6.51e-06	1.07e-05	8.48e-06	0	0	0	0	0	0	1.782e-05	0	0	9.023e-06	8.712e-06	0	3.022e-05	1.896e-05	0	0	.	.	0	0	0	0	0	0	0	1.896e-05	0	0	.	.	.	0.261	0.22962	T	0.005	0.12996	B	0.001	0.04355	B	.	.	.	.	0.999997	0.08975	N	1.1	0.28011	L	.	.	.	.	.	.	0.136	0.13341	-1.0060	0.28156	T	0.034	0.14552	T	8	0.063596964	0.08309	T	0.001148	0.01434	T	.	.	0.219	0.14078	0.0846915920261	0.08053	0.04272847654102902	0.04217	.	.	0.392395079136	0.24006	T	0.011306	0.10105	T	-0.508059	0.00515	T	-0.967568	0.00212	T	0.028430521356125	0.01751	T	0.285071	0.05059	T	0.2020727	0.42240	0.29820147	0.55853	0.2020727	0.42240	0.29820147	0.55853	-1.205	0.01258	T	.	.	0.068	0.02861	B	.;.	.;.	-0.381366	0.02283	0.238	0.32130997492312152	0.01846	0.02139	0.06303	N	AEFDI	.	.	.	.	.	.	.	.	.	1.1934965723927E-4	0.05269	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.932	-1.05	0.09523	0.006000	0.13051	-0.331000	0.09890	0.361000	0.20101	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.4729:0.0:0.5271	3.393	0.06873	17	0.98681	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1169.33	60	chrX	105219566	.	T	C	1169.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.398;DP=781;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.05;ReadPosRankSum=1.27;SOR=0.657	GT:AD:DP:GQ:PL	0/1:49,48:97:99:1183,0,1441	18	0	1	0
chrX	120875562	120875562	C	T	exonic	CT47B1	.	nonsynonymous SNV	CT47B1:NM_001145718:exon1:c.G109A:p.D37N	.	140	1364	9	9	0	27	0.00980036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.0204394931847	.	0.0010596	0.0024	0.0004	0.0003	0	0.0024	0.0022	0	0.0081	0.0018564	287	154602	rs201496820	0.0022	0.0022	0.0021	0.0025	0.0087	0.0021	0.0021	0.0060	0.0052	0.0003	0.0002	0.0007	3.323e-05	0.0008	0.0087	0.0022	0.0023	0.0059	0.0015	0.0015	0.0015	0.0016	0.0045	0.0013	0.0012	0.0024	0.0019	0.0004	0	0.0003	0.0008	0	0.0004	0.0098	0.0024	0.0035	0.0045	0.409	0.10180	T	0.033	0.53072	D	0.998	0.73220	D	0.982	0.75477	D	0.883443	0.08739	N	0.913390	1	0.08975	N	2.24	0.63355	M	.	.	.	-1.27	0.31981	N	0.029	0.00666	-1.0069	0.27881	T	0.090	0.34491	T	9	0.00861612	0.00195	T	0.020439	0.43035	T	0.043	0.11576	.	.	0.0297737177859	0.01360	0.027698094747085726	0.02719	0.0266164007129	0.02719	0.460752248764	0.33413	T	0.019919	0.15779	T	-0.849463	0.00003	T	-0.989664	0.00160	T	0.0198412439985195	0.00686	T	0.639636	0.25265	T	0.070556395	0.15551	0.05144595	0.08282	0.070556395	0.15550	0.05144595	0.08282	-4.819	0.34812	T	.	.	0.149	0.32992	B	.	.	1.244299	0.16405	12.52	0.99588817944689012	0.73454	0.00117	0.00738	N	AEFBI	.	.	.	.	.	.	.	.	.	2.69833855707022E-5	0.03498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.34	0.422	0.15674	0.162000	0.16318	-5.150000	0.01829	0.353000	0.19991	0.000000	0.06391	0.000000	0.08366	0.022000	0.11911	0.0:0.5281:0.2863:0.1856	3.056	0.05811	949	0.11373	.	.	.	.	.	.	Uncertain significance	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	0.010679	0.000000	0.001866	0.028571	0.000000	0.035714	0.014493	0.010929	0.02632	131.38	7	chrX	120875562	.	C	T	131.38	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.411;DP=225;ExcessHet=0;FS=0;InbreedingCoeff=-0.0305;MLEAC=1;MLEAF=0.026;MQ=45.42;MQRankSum=0.61;QD=7.73;ReadPosRankSum=0.101;SOR=0.26	GT:AD:DP:GQ:PL	0/1:11,6:17:99:145,0,293	18	0	1	0
chrX	132054721	132054721	C	T	exonic	STK26	.	nonsynonymous SNV	STK26:NM_001042452:exon2:c.C133T:p.R45C,STK26:NM_016542:exon3:c.C133T:p.R45C	.	437	1073	10	2	0	14	0.00648148	.	.	.	743154	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.381	.	0.0041	0.00238411	0.0056	0.0002	0.0026	0	0.0108	0.0086	0.0064	0.0004	0.0052781	816	154602	rs56044451	0.0056	0.0056	0.0056	0.0056	0.0157	0.0054	0.0054	0.0127	0.0115	0.0005	0.0038	0.0142	0	0.0080	0.0157	0.0059	0.0068	0.0005	0.0046	0.0048	0.0046	0.0047	0.0062	0.0043	0.0042	0.0056	0.0054	0.0007	0.0058	0.0055	0.0132	0	0.0089	0.0184	0.0062	0.0066	0.0004	0.001	0.78490	D	0.074	0.45961	T	0.209	0.34565	B	0.048	0.32088	B	0.000006	0.62929	D	0.000000	1	0.81001	D	.	.	.	-0.2	0.66113	T	-6.51	0.92260	D	0.407	0.44761	-0.7050	0.60198	T	0.165	0.50258	T	10	0.00829038	0.00188	T	.	.	.	0.381	0.69863	.	.	0.799535280199	0.79766	0.8470690818160017	0.84667	1.88409368239	0.92644	0.887617170811	0.94961	D	0.252676	0.62310	T	-0.0763485	0.40307	T	0.122963	0.78431	D	0.0625795163614049	0.07570	T	0.978852	0.92760	D	0.8479754	0.87187	0.83646315	0.90606	0.8479754	0.87188	0.83646315	0.90606	-10.873	0.78957	D	.	.	0.296	0.63881	B	.;.;.;.	.;.;.;.	5.133457	0.85920	28.7	0.99865163505854637	0.94366	0.97203	0.73298	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999999999998735	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.3	5.3	0.74745	4.938000	0.63220	5.962000	0.51841	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:1.0:0.0:0.0	17.991	0.89091	309	0.87553	Protein kinase domain|Protein kinase, ATP binding site|Protein kinase domain|Protein kinase domain|MST4, kinase domain;Protein kinase domain|Protein kinase, ATP binding site|Protein kinase domain|Protein kinase domain|MST4, kinase domain;Protein kinase domain|Protein kinase, ATP binding site|Protein kinase domain|Protein kinase domain|MST4, 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	1	0	0.008270	0.000000	0.014842	0.007905	0.071429	0.011765	0.000000	0.000000	0.02632	1661.33	35	chrX	132054721	.	C	T	1661.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.759;DP=755;ExcessHet=0;FS=2.187;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=-1.639;SOR=0.527	GT:AD:DP:GQ:PL	0/1:73,63:136:99:1675,0,1930	18	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	.	.	.	.	.	.	.	.	0.4474	1139.66	111	chrX	135580144	.	G	C	1139.66	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-0.835;DP=1343;ExcessHet=31.086;FS=227.944;InbreedingCoeff=-0.8004;MLEAC=17;MLEAF=0.447;MQ=60;MQRankSum=0;QD=1.05;ReadPosRankSum=0.257;SOR=12.389	GT:AD:DP:GQ:PL	0/1:56,26:91:29:29,0,748	2	0	17	0
chrX	141896858	141896858	C	A	exonic	MAGEC3	.	nonsynonymous SNV	MAGEC3:NM_177456:exon5:c.C206A:p.S69Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00263472389447	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	0.42199	D	0.523	0.10354	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.51	0.04959	T	-0.96	0.25551	N	0.17	0.18103	-0.9714	0.36904	T	0.011	0.03949	T	8	0.1117104	0.20929	T	0.002635	0.05349	T	0.022	0.04323	0.335	0.32329	0.0297737177859	0.01360	.	.	.	.	.	.	.	.	.	.	-0.591663	0.00164	T	-1.08766	0.00035	T	0.0563047676924998	0.06573	T	0.236176	0.03286	T	.	.	.	.	.	.	.	.	-6.746	0.52156	T	.	.	0.141	0.30971	B	.;.	.;.	-0.396787	0.02224	0.224	0.57393752042979684	0.05760	0.01039	0.03885	N	AEFHCI	.	.	.	.	.	.	.	.	.	4.82390176892431E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.1	-2.2	0.06601	-0.910000	0.04163	.	.	-0.476000	0.05080	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3048:0.2603:0.0:0.4349	1.531	0.02382	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	.	.	.	.	.	.	.	.	0.02632	218.33	34	chrX	141896858	.	C	A	218.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.311;DP=788;ExcessHet=0;FS=99.716;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.43;ReadPosRankSum=-0.155;SOR=6.592	GT:AD:DP:GQ:PL	0/1:127,26:153:99:232,0,3477	18	0	1	0
chrX	153673959	153673959	G	A	exonic	PNCK	.	nonsynonymous SNV	PNCK:NM_001039582:exon1:c.C217T:p.P73S	.	478	1012	20	12	0	44	0.0212766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	.	.	0.00476821	0.0440	0	0	0	.	0.0310	0.0909	0.0495	0.0013454	208	154602	rs576348453	0.0055	0.0052	0.0053	0.0061	0.0190	0.0054	0.0054	0.0147	0.0132	0.0006	0.0011	0.0007	0	0.0026	0.0190	0.0056	0.0053	0.0142	0.0034	0.0035	0.0034	0.0033	0.0106	0.0031	0.0030	0.0077	0.0067	0.0006	0.0102	0.0013	0.0008	0	0.0017	0.0141	0.0055	0.0059	0.0106	0.364	0.11770	T	0.099	0.38891	T	0.149	0.27956	B	0.017	0.18140	B	.	.	.	.	1	0.08975	N	.	.	.	-0.21	0.66294	T	-0.45	0.14782	N	0.022	0.00372	-1.0580	0.12260	T	0.117	0.41320	T	7	0.0036617517	0.00067	T	.	.	.	0.036	0.09122	.	.	0.592943046075	0.58972	0.1414271192926602	0.14065	1.30130239228	0.83020	0.698938429356	0.66990	T	.	.	.	-0.779335	0.00011	T	-0.877301	0.00677	T	0.014896998809364	0.00316	T	0.246275	0.03611	T	.	.	.	.	.	.	.	.	-3.572	0.17453	T	.	.	0.075	0.05491	B	.	.	0.094183	0.04970	1.535	0.9761136775375171	0.34910	0.02376	0.06756	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999948174804915	0.47345	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.14	-2.29	0.06419	-0.477000	0.06663	.	.	-0.905000	0.02300	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2367:0.0:0.4907:0.2726	2.456	0.04254	27	0.98276	.	.	.	.	.	.	Uncertain significance	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	0.013757	0.016260	0.000000	0.005291	0.000000	0.051724	0.023810	0.022556	0.02632	629.35	33	chrX	153673959	.	G	A	629.35	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.566;DP=378;ExcessHet=0;FS=1.619;InbreedingCoeff=-0.028;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.98;ReadPosRankSum=-1.606;SOR=0.446	GT:AD:DP:GQ:PL	0/1:13,22:35:99:643,0,331	18	0	1	0
chrX	153674028	153674028	C	G	exonic	PNCK	.	nonsynonymous SNV	PNCK:NM_001039582:exon1:c.G148C:p.G50R	.	440	1049	22	11	0	44	0.0205415	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	.	.	0.00476821	0.0126	0.0014	0.0066	0	0.0039	0.0135	0.0432	0.0200	0.0041138	636	154602	rs183794739	0.0054	0.0054	0.0051	0.0059	0.0166	0.0053	0.0052	0.0132	0.0121	0.0007	0.0011	0.0005	0	0.0024	0.0166	0.0056	0.0051	0.0132	0.0034	0.0035	0.0034	0.0033	0.0106	0.0031	0.0030	0.0076	0.0066	0.0007	0.0117	0.0013	0.0008	0	0.0013	0.0138	0.0055	0.0052	0.0106	0.028	0.46129	D	0.008	0.67890	D	0.978	0.58756	D	0.498	0.47596	P	.	.	.	.	1	0.08975	P	.	.	.	-0.21	0.66294	T	-0.08	0.08187	N	0.034	0.00942	-0.7514	0.57862	T	0.205	0.56252	T	6	0.004712194	0.00099	T	.	.	.	0.072	0.21020	.	.	0.408988072059	0.40512	0.08156390918134973	0.08091	1.63338991137	0.89261	0.562147676945	0.47571	T	.	.	.	-0.637622	0.00086	T	-0.677645	0.07128	T	0.0320612547926789	0.02316	T	0.450755	0.12737	T	.	.	.	.	.	.	.	.	-3.849	0.21538	T	.	.	0.143	0.31456	B	.	.	0.142661	0.05360	1.845	0.45730729443817891	0.03611	0.06867	0.12892	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.990431214537701	0.32152	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.75	1.45	0.21708	-0.063000	0.11612	.	.	-0.375000	0.05424	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.0:0.6865:0.0:0.3135	4.579	0.11644	27	0.98276	.	.	.	.	.	.	Uncertain significance	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	0.011260	0.014085	0.003717	0.008097	0.000000	0.036145	0.018349	0.016304	0.02632	704.33	33	chrX	153674028	.	C	G	704.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.287;DP=557;ExcessHet=0;FS=3.984;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=0.682;SOR=0.33	GT:AD:DP:GQ:PL	0/1:21,32:53:99:718,0,531	18	0	1	0
chrX	154776813	154776813	-	AAG	exonic	DKC1	.	nonframeshift insertion	DKC1:NM_001142463:exon15:c.1476_1477insAAG:p.K500_A501insK,DKC1:NM_001363:exon15:c.1491_1492insAAG:p.K505_A506insK	Dyskeratosis congenita, X-linked, X-linked recessive	.	.	.	.	.	.	.	.	.	.	208981	Dyskeratosis_congenita|not_specified|not_provided|Dyskeratosis_congenita,_X-linked	MONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550,Orphanet:1775|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010584,MedGen:C1148551,OMIM:305000	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.00900662	0.0091	0.0009	0.0052	0	0.0021	0.0071	0.0171	0.0394	0.0007684	20	26028	rs1315337295	0.0043	0.0046	0.0053	0.0021	0.0376	0.0042	0.0041	0.0328	0.0309	0.0008	0.0041	0.0183	0.0002	0.0008	0.0376	0.0030	0.0064	0.0224	0.0045	0.0051	0.0047	0.0040	0.0300	0.0042	0.0040	0.0245	0.0225	0.0008	0	0.0076	0.0191	0.0003	0.0009	0.0372	0.0045	0.0101	0.0300	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	5912.29	36	chrX	154776813	.	C	CAAG	5912.29	.	AC=5;AF=0.132;AN=38;BaseQRankSum=0.737;DP=767;ExcessHet=0;FS=3.044;InbreedingCoeff=0.7697;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=31.79;ReadPosRankSum=0.404;SOR=0.487	GT:AD:DP:GQ:PL	0/1:44,50:94:99:1923,0,1677	16	2	1	0