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	NSWES986-F	WT	HH	HZ	NC
chr1	944101	944101	G	T	exonic	SAMD11	.	nonsynonymous SNV	SAMD11:NM_001385640:exon14:c.G2486T:p.G829V,SAMD11:NM_001385641:exon14:c.G2483T:p.G828V,SAMD11:NM_152486:exon14:c.G1994T:p.G665V	.	.	.	.	.	.	.	.	.	.	.	824546	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.294	0.114630951344	.	.	.	.	.	.	.	.	.	.	.	.	.	rs113383096	1.098e-05	1.094e-05	1.092e-05	1.104e-05	0.0002	6.5e-06	5.26e-06	8.12e-06	6.43e-06	0	0	0	0	0	0.0002	1.352e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.005	0.72224	D	0.993	0.65571	D	0.738	0.55619	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.255	0.64187	M	.	.	.	-4.52	0.78302	D	0.628	0.72299	-0.5465	0.66919	T	0.274	0.64525	T	9	0.63167953	0.68552	D	0.114631	0.79355	D	0.294	0.61388	0.321	0.30064	0.502379540653	0.49875	0.5567467974701948	0.55601	0.0379485493856	0.04033	0.55874812603	0.47091	T	0.131626	0.50909	T	0.156336	0.69860	D	-0.0132104	0.69475	D	0.989577651023865	0.79803	D	0.919408	0.70943	D	0.5913204	0.72223	0.41016474	0.65284	0.5913204	0.72224	0.41016474	0.65285	-7.298	0.56181	T	.	.	0.262	0.54696	B	.;.;.;.;.;.	.;.;.;.;.;.	3.590423	0.50659	23.0	0.99014690007378392	0.50441	0.87256	0.46740	D	AEFDBCI	0.499290	0.53304	N	0.0821086849339968	0.45629	2.816246	0.037923345461408	0.41492	2.49365	0.999999982437542	0.74766	0.498214	0.20090	0	0.572659	0.20510	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	5.05	4.13	0.47661	2.811000	0.47685	.	.	-0.103000	0.15852	1.000000	0.71638	1.000000	0.68203	0.278000	0.23967	0.0779:0.1358:0.7863:0.0	10.196	0.42232	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	.	.	.	.	.	.	.	.	0.08333	714.27	34	chr1	944101	.	G	T	714.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.89;DP=243;ExcessHet=0;FS=1.989;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.35;ReadPosRankSum=0.048;SOR=0.587	GT:AD:DP:GQ:PL	0/1:38,31:69:99:724,0,984	5	0	1	1
chr1	964368	964368	T	A	exonic	KLHL17	.	nonsynonymous SNV	KLHL17:NM_198317:exon11:c.T1538A:p.V513E	.	427	1094	1	0	0	1	0.00045683	.	.	.	3976737	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.778	0.369458579851	8e-05	.	5.706e-05	0	0	0	0	0.0001	0	0	1.29e-05	2	154602	rs372591096	9.26e-06	9.577e-06	7.04e-06	1.153e-05	0.0007	5.17e-06	3.98e-06	0.0003	0.0002	0	0	0	0	0	0.0007	8.305e-06	0	0	1.974e-05	1.97e-05	1.286e-05	2.696e-05	4.415e-05	5.25e-06	2.46e-06	1.172e-05	6.25e-06	0	0	0	0	0	0	0	4.415e-05	0	0	0.0	0.91255	D	0.003	0.76473	D	0.948	0.53620	P	0.697	0.54061	P	0.006616	0.31916	N	0.338999	0.999995	0.58761	D	1.54	0.38927	L	-1.28	0.79376	T	-5.32	0.84525	D	0.697	0.70175	0.331	0.88048	D	0.593	0.85443	D	10	0.8952285	0.88875	D	0.369459	0.92710	D	0.778	0.92583	.	.	0.955750653757	0.95527	0.6102936196621508	0.60961	.	.	0.70863366127	0.68396	T	0.629064	0.88480	D	0.035459	0.56447	T	-0.0862121	0.64446	T	0.940078496932983	0.61209	D	0.668433	0.27736	T	0.89938223	0.91328	0.8895149	0.94232	0.89938223	0.91329	0.8895149	0.94233	-10.585	0.77334	D	0.5814695986804941	0.64831	0.729	0.74169	P	.	.	4.485193	0.70018	25.5	0.98671480554765323	0.44484	0.99722	0.98964	D	AEFBI	0.880597	0.80735	D	0.527773121858574	0.68737	5.258732	0.457996018804856	0.65231	4.797851	0.999999932994574	0.74766	0.732398	0.92422	0	0.643519	0.57511	0	0.570548	0.19454	0	0.727631	0.95156	0	.	.	4.83	4.83	0.61880	4.994000	0.63640	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.593000	0.31214	0.0:0.0:0.0:1.0	14.694	0.68719	923	0.18507	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001038	0.000000	0.001397	0.002994	0.000000	0.000000	0.000000	0.000000	0.07143	896.44	37	chr1	964368	.	T	A	896.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.172;DP=269;ExcessHet=0;FS=3.087;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.35;ReadPosRankSum=-1.195;SOR=1.168	GT:AD:DP:GQ:PL	0/1:42,37:79:99:907,0,1093	6	0	1	0
chr1	1045172	1045172	G	A	exonic	AGRN	.	nonsynonymous SNV	AGRN:NM_198576:exon13:c.G2266A:p.A756T	Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, Autosomal recessive	2	1501	19	0	0	19	0.00628931	.	.	.	249318	not_provided|Congenital_myasthenic_syndrome_8|not_specified	MedGen:C3661900|MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.123	0.0970151777479	0.0005	0.000599042	0.0013	0.0001	8.784e-05	0.0046	0.0042	0.0012	0.0012	0.0007	0.0011255	174	154602	rs140764403	0.0009	0.0009	0.0009	0.0010	0.0131	0.0009	0.0009	0.0107	0.0098	0.0001	0.0004	0.0025	0.0078	0.0037	0.0131	0.0005	0.0014	0.0009	0.0009	0.0009	0.0007	0.0011	0.0054	0.0008	0.0007	0.0038	0.0033	0.0001	0	0.0004	0.0014	0.0054	0.0027	0.0034	0.0007	0.0024	0.0019	0.527	0.07093	T	0.513	0.10714	T	.	.	.	.	.	.	0.097503	0.20024	N	0.407810	0.99948	0.21117	N	1.155	0.29575	L	-0.96	0.75553	T	-0.45	0.14782	N	0.189	0.20660	-0.9896	0.32702	T	0.159	0.49329	T	10	0.012999803	0.00277	T	0.097015	0.76702	D	0.123	0.34020	.	.	0.730723476741	0.72833	0.07224684039450929	0.07161	0.11738018142	0.13225	0.478209018707	0.35809	T	.	.	.	-0.459926	0.00984	T	-0.432613	0.29638	T	0.000873139681683351	0.00008	T	0.588541	0.21576	T	.	.	.	.	.	.	.	.	-3.395	0.14990	T	.	.	0.077	0.06387	B	.;.	.;.	1.179532	0.15696	12.04	0.86146716162700376	0.16343	0.24624	0.22451	N	AEFBI	0.115884	0.22766	N	-0.88422585267322	0.11217	0.5401324	-0.938262077458966	0.11196	0.568915	0.249722612897697	0.18667	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.5	2.48	0.29194	-0.007000	0.12747	4.219000	0.42581	-0.679000	0.04243	0.000000	0.06391	1.000000	0.68203	0.002000	0.04165	0.21:0.3267:0.4632:0.0	4.532	0.11414	940	0.13648	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.011122	0.005051	0.012262	0.026471	0.000000	0.017241	0.003067	0.003788	0.07143	1405.63	40	chr1	1045172	.	G	A	1405.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.3;DP=304;ExcessHet=0;FS=2.564;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.65;ReadPosRankSum=1.02;SOR=0.525	GT:AD:DP:GQ:PL	0/1:48,55:103:99:1416,0,1024	6	0	1	0
chr1	1047342	1047342	A	G	exonic	AGRN	.	nonsynonymous SNV	AGRN:NM_198576:exon20:c.A3404G:p.Q1135R	Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, Autosomal recessive	0	1406	106	10	0	126	0.0428863	.	.	.	133748	not_specified|not_provided|Congenital_myasthenic_syndrome_8	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.192	.	0.0054	0.0139776	0.0143	0.0024	0.0027	0.0030	0.0046	0.0098	0.0141	0.0640	0.0127295	1968	154602	rs142416636	0.0098	0.0098	0.0081	0.0115	0.0567	0.0096	0.0096	0.0554	0.0548	0.0013	0.0030	0.0299	0.0018	0.0044	0.0307	0.0065	0.0129	0.0567	0.0077	0.0077	0.0071	0.0084	0.0574	0.0074	0.0072	0.0518	0.0497	0.0013	0	0.0042	0.0288	0.0046	0.0037	0.0238	0.0087	0.0118	0.0574	0.012	0.54683	D	0.007	0.69154	D	.	.	.	.	.	.	0.003679	0.34636	N	0.202957	0.921028	0.36678	D	2.135	0.59519	M	1.16	0.38073	T	-1.59	0.38345	N	0.519	0.54932	-1.0091	0.27198	T	0.074	0.29960	T	10	0.007086724	0.00161	T	.	.	.	0.192	0.47115	.	.	.	.	0.6762159472269722	0.67559	0.592570687533	0.54640	0.507688999176	0.39899	T	.	.	.	-0.44873	0.01149	T	-0.376367	0.36146	T	0.013385198865462	0.00242	T	0.836816	0.50885	T	.	.	.	.	.	.	.	.	-7.347	0.56529	T	.	.	0.109	0.38587	B	.;.	.;.	3.504255	0.49039	22.7	0.99389829152015619	0.62292	0.86197	0.45432	D	AEFBI	0.265116	0.38231	N	0.244303167897421	0.53358	3.504996	0.252757546594491	0.52807	3.453025	0.919847161373162	0.26614	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.16	4.16	0.48138	2.004000	0.40474	6.613000	0.56094	0.749000	0.86810	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	1.0:0.0:0.0:0.0	13.671	0.61899	940	0.13648	.;SEA domain|SEA domain|SEA domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.029204	0.005051	0.024523	0.038012	0.000000	0.051724	0.018293	0.041667	0.07143	664.63	37	chr1	1047342	.	A	G	664.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.628;DP=234;ExcessHet=0;FS=1.064;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.08;ReadPosRankSum=-1.77;SOR=0.452	GT:AD:DP:GQ:PL	0/1:22,33:55:99:675,0,490	6	0	1	0
chr1	1072179	1072179	G	C	exonic	RNF223	.	nonsynonymous SNV	RNF223:NM_001205252:exon2:c.C388G:p.R130G	.	412	1098	12	0	0	12	0.00543478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.296	0.556466431103	.	.	0.0013	0	0	0	.	0.0044	0	0.0003	0.0001229	19	154602	rs762881797	0.0003	0.0003	0.0003	0.0004	0.0122	0.0003	0.0003	0.0098	0.0089	7.201e-05	0.0004	0.0026	0	0	0.0122	0.0002	0.0007	0.0004	0.0003	0.0003	0.0003	0.0003	0.0014	0.0002	0.0002	0.0007	0.0005	4.814e-05	0	0.0003	0.0014	0	0	0.0034	0.0004	0.0009	0.0014	0.011	0.55530	D	0.059	0.45961	T	.	.	.	.	.	.	.	.	.	.	0.998754	0.21933	N	1.79	0.46772	L	-1.83	0.84122	D	-2.39	0.52612	N	0.165	0.17416	-0.4418	0.70670	T	0.479	0.80083	T	7	0.009845018	0.00221	T	0.556466	0.95933	D	0.296	0.61616	.	.	0.569101917167	0.56574	0.2616413233270059	0.26077	.	.	0.701153516769	0.67310	T	0.009512	0.08653	T	-0.271752	0.11562	T	-0.310057	0.43653	T	0.0542068476359941	0.06223	T	0.746125	0.36682	T	0.11427351	0.26979	0.17014867	0.39103	0.11427351	0.26979	0.17014867	0.39102	-5.58	0.42610	T	.	.	0.201	0.42433	B	.	.	2.263322	0.28925	17.96	0.89982587219036936	0.19275	0.96348	0.68700	D	AEFDBI	0.518378	0.54410	D	-0.428625069645717	0.24471	1.321504	-0.481904859065645	0.22652	1.231428	0.965907127948371	0.28864	0.517182	0.21443	0	0.578056	0.33634	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	4.22	2.09	0.26154	3.147000	0.50335	5.421000	0.48566	-0.258000	0.06954	0.998000	0.41325	1.000000	0.68203	0.003000	0.05239	0.0:0.0:0.674:0.326	11.435	0.49310	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.012158	0.007042	0.022727	0.025641	0.000000	0.000000	0.000000	0.000000	0.07143	1100.46	43	chr1	1072179	.	G	C	1100.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.705;DP=286;ExcessHet=0;FS=3.195;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.87;ReadPosRankSum=-0.83;SOR=0.378	GT:AD:DP:GQ:PL	0/1:32,42:74:99:1111,0,751	6	0	1	0
chr1	1615612	1615612	C	A	exonic	MIB2	.	stopgain	MIB2:NM_001170688:exon1:c.C153A:p.C51X	.	405	1108	9	0	0	9	0.00404494	.	.	.	215186	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0011	.	0.0042	0.0005	0.0031	0.0007	0	0.0078	0	0.0007	0.0009379	145	154602	rs199741261	0.0012	0.0012	0.0011	0.0012	0.0083	0.0011	0.0011	0.0064	0.0057	0.0002	0.0013	0.0298	0	0	0.0083	0.0005	0.0035	0.0005	0.0014	0.0014	0.0013	0.0014	0.0010	0.0012	0.0012	0.0007	0.0007	7.216e-05	0	0.0010	0.0343	0	0	0.0137	0.0009	0.0038	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.102	0.13055	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.352183	0.04590	T	-0.308742	0.43794	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;Recessive	.;.;.;High	0.172966	0.05618	2.069	0.97635255178158264	0.35046	0.01743	0.05498	N	AEFGBHCIJ	0.031329	0.03323	N	-0.439352867474657	0.24103	1.299078	-0.853123424869877	0.13212	0.6841909	0.999999999604182	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.249971	0.05119	0	.	.	1.43	0.434	0.15752	-0.758000	0.04872	-2.227000	0.04029	-1.132000	0.01454	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7509:0.0:0.2491	3.998	0.09056	804	0.43891	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.008172	0.005376	0.008197	0.011765	0.000000	0.025862	0.003145	0.003788	0.07143	436.83	24	chr1	1615612	.	C	A	436.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.26;DP=193;ExcessHet=0;FS=2.742;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.5;ReadPosRankSum=-1.675;SOR=1.005	GT:AD:DP:GQ:PL	0/1:21,17:38:99:447,0,459	6	0	1	0
chr1	5947199	5947199	G	A	exonic	NPHP4	.	nonsynonymous SNV	NPHP4:NM_015102:exon9:c.C1024T:p.R342C	Nephronophthisis 4, Autosomal recessive;Senior-Loken syndrome 4, Autosomal recessive	0	1475	45	2	0	49	0.0163388	.	.	.	265418	Kidney_disorder|Nephronophthisis|not_specified|not_provided|Nephronophthisis_4|Senior-Loken_syndrome_4	Human_Phenotype_Ontology:HP:0000112,MONDO:MONDO:0005240,MedGen:C0022658|Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011752,MedGen:C1847013,OMIM:606966,Orphanet:655|MONDO:MONDO:0011756,MedGen:C1846979,OMIM:606996,Orphanet:3156	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.765	0.0964403851515	0.0007	0.00199681	0.0014	0.0002	0.0008	0	0	0.0010	0.0011	0.0052	0.0013583	210	154602	rs190940697	0.0012	0.0012	0.0009	0.0014	0.0151	0.0011	0.0011	0.0126	0.0116	0.0003	0.0020	0.0015	0.0001	3.746e-05	0.0151	0.0008	0.0018	0.0058	0.0013	0.0013	0.0010	0.0017	0.0059	0.0012	0.0011	0.0049	0.0045	0.0002	0	0.0059	0.0006	0	9.43e-05	0.0205	0.0011	0.0009	0.0052	0.003	0.68238	D	0.003	0.76473	D	0.998	0.73220	D	0.804	0.58350	P	0.007431	0.31401	N	0.257748	0.998941	0.45735	D	2.395	0.69210	M	-2.46	0.88924	D	-4.06	0.74582	D	0.435	0.47395	0.586	0.91707	D	0.734	0.90909	D	10	0.013156593	0.00280	T	0.09644	0.76602	D	0.765	0.92046	.	.	0.976226049668	0.97597	0.5212246757217461	0.52045	0.0998960403143	0.11286	0.439795911312	0.30549	T	0.561929	0.85350	D	-0.059776	0.42943	T	0.143002	0.79739	D	0.0586649188702594	0.06956	T	0.872813	0.58483	D	0.19836012	0.41736	0.19956864	0.43846	0.19706526	0.41557	0.21434619	0.45980	-7.055	0.54435	T	0.6801097756995307	0.75638	0.108	0.20586	B	.;.	.;.	4.764337	0.77065	26.6	0.99940997024722089	0.99797	0.86448	0.45730	D	AEFDBI	0.486785	0.52581	N	0.577825742241334	0.71791	5.705099	0.571575723889554	0.72910	5.884972	0.994230220112496	0.33546	0.706548	0.73137	0	0.724815	0.89359	0	0.786243	0.99158	0	0.699875	0.68795	0	.	.	5.26	5.26	0.73479	2.983000	0.49035	7.261000	0.57960	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	14.381	0.66476	759	0.50631	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.012109	0.005051	0.013587	0.017647	0.000000	0.008621	0.003067	0.018939	0.08333	585.27	33	chr1	5947199	.	G	A	585.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.37;DP=216;ExcessHet=0;FS=6.396;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.45;ReadPosRankSum=-1.184;SOR=1.806	GT:AD:DP:GQ:PL	0/1:25,22:47:99:595,0,581	5	0	1	1
chr1	6051658	6051658	G	A	exonic	KCNAB2	.	nonsynonymous SNV	KCNAB2:NM_001199862:exon2:c.G122A:p.R41Q	.	414	1081	26	1	0	28	0.0127854	.	.	.	3206907	KCNAB2-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.206	0.22873351886	.	0.000599042	0.0028	0	0.0083	0	.	0.0020	0	0.0032	0.0003428	53	154602	rs530635823	0.0008	0.0008	0.0007	0.0010	0.0104	0.0008	0.0008	0.0080	0.0072	0.0003	0.0019	3.974e-05	0	5.938e-05	0.0104	0.0006	0.0014	0.0033	0.0010	0.0010	0.0008	0.0012	0.0046	0.0009	0.0008	0.0037	0.0034	9.619e-05	0	0.0046	0	0	9.409e-05	0.0136	0.0008	0.0019	0.0031	0.008	0.58626	D	0.431	0.13673	T	0.837	0.46346	P	0.107	0.31211	B	0.000133	0.49741	D	0.129397	0.999469	0.81001	D	.	.	.	3.44	0.05375	T	-0.69	0.19720	N	0.479	0.51405	-0.9852	0.33784	T	0.016	0.06569	T	9	0.005346626	0.00117	T	0.228734	0.88151	D	0.206	0.49396	0.341	0.33302	0.342376198884	0.33841	0.6154562840852038	0.61477	1.57708980324	0.88325	0.570121884346	0.48695	T	.	.	.	-0.38435	0.02924	T	-0.326974	0.41806	T	0.102805372171688	0.12663	T	0.867113	0.56785	D	.	.	.	.	.	.	.	.	-3.656	0.18671	T	.	.	0.107	0.19958	B	.	.	4.584108	0.72443	25.8	0.99902879658461696	0.97426	0.93198	0.57581	D	AEFDBHCI	0.936377	0.93260	D	0.423690409344679	0.62727	4.493526	0.516051138107036	0.69067	5.308078	0.999999997791724	0.74766	0.428477	0.06694	0	0.379588	0.06130	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.26	5.26	0.73479	9.256000	0.94719	11.547000	0.93161	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0:0.0:1.0:0.0	17.864	0.88704	794	0.45591	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005525	0.006494	0.000000	0.018987	0.000000	0.000000	0.000000	0.000000	0.07143	485.53	34	chr1	6051658	.	G	A	485.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.5;DP=225;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.99;ReadPosRankSum=0.636;SOR=0.765	GT:AD:DP:GQ:PL	0/1:34,20:54:99:496,0,892	6	0	1	0
chr1	7933279	7933279	T	C	exonic	TNFRSF9	.	nonsynonymous SNV	TNFRSF9:NM_001561:exon7:c.A562G:p.I188V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00322881089952	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1422125870	4.106e-06	4.104e-06	1.362e-06	6.879e-06	6.963e-05	1.48e-06	9.7e-07	2.997e-05	2.039e-05	0	0	0	0	0	0	0	0	6.963e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.766	0.03421	T	0.615	0.27855	T	0.001	0.07471	B	0.001	0.04355	B	0.001980	0.00848	N	2.877280	1	0.08975	N	2.225	0.63025	M	3.26	0.46028	T	-0.29	0.11728	N	0.07	0.04307	-0.9800	0.35002	T	0.013	0.05081	T	10	0.06785095	0.09512	T	0.003229	0.07117	T	0.019	0.03383	0.337	0.32654	0.130388298395	0.12655	0.14598170991795134	0.14520	0.0757698424566	0.08505	0.269181847572	0.06035	T	0.148063	0.48644	T	-0.462213	0.00952	T	-0.801083	0.01875	T	0.0571555953774738	0.06713	T	0.263374	0.04839	T	0.01753673	0.00281	0.024458949	0.00466	0.01753673	0.00281	0.024458949	0.00466	-3.348	0.14364	T	.	.	0.079	0.16143	B	.;.;.	.;.;.	-1.269141	0.00465	0.010	0.25531466869519609	0.01181	0.01024	0.03847	N	AEFBI	0.062436	0.12001	N	-1.37358184774086	0.02887	0.1281695	-1.47322740192701	0.02566	0.1182411	0.177775733794763	0.17828	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.42	-6.64	0.01635	-1.766000	0.01895	-2.713000	0.03439	-0.762000	0.03503	0.000000	0.06391	0.000000	0.08366	0.105000	0.18517	0.2248:0.1766:0.4202:0.1784	1.801	0.02886	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	.	.	.	.	.	.	.	.	0.07143	61.54	27	chr1	7933279	.	T	C	61.54	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.945;DP=161;ExcessHet=0;FS=6.767;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=3.24;ReadPosRankSum=0.448;SOR=2.812	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:16,3:19:71:0|1:7933277_G_A:71,0,656:7933277	6	0	1	0
chr1	7933282	7933282	T	C	exonic	TNFRSF9	.	nonsynonymous SNV	TNFRSF9:NM_001561:exon7:c.A559G:p.I187V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00270495129526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.06147	T	0.002	0.09854	B	0.001	0.04355	B	0.030551	0.01722	N	2.226600	1	0.08975	N	0.22	0.09567	N	3.34	0.38883	T	-0.08	0.08187	N	0.064	0.03613	-0.9649	0.38230	T	0.008	0.02926	T	10	0.039113462	0.02377	T	0.002705	0.05550	T	0.009	0.00846	0.276	0.22845	0.0954503805726	0.09146	0.14244755294639133	0.14167	0.0755766024316	0.08479	0.303215026855	0.10881	T	0.091535	0.38816	T	-0.396887	0.02426	T	-0.807877	0.01713	T	0.0528059709509316	0.05985	T	0.343166	0.08297	T	0.014398486	0.00092	0.024658427	0.00489	0.014398486	0.00092	0.024658427	0.00489	-3.107	0.11376	T	.	.	0.082	0.20117	B	.;.;.	.;.;.	-2.656894	0.00022	0.001	0.31864493878579497	0.01817	0.00640	0.02800	N	AEFBI	0.053752	0.09712	N	-1.55403076293908	0.01511	0.06599016	-1.62642963533454	0.01502	0.06801238	0.1723792661722	0.17755	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.43	-6.6	0.01657	-4.246000	0.00304	-7.248000	0.01198	-0.123000	0.13640	0.000000	0.06391	0.000000	0.08366	0.131000	0.19607	0.269:0.3775:0.1367:0.2167	1.562	0.02441	804	0.43891	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	78.9	22	chr1	7933282	.	T	C	78.9	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.728;DP=153;ExcessHet=0.3476;FS=37.363;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.46;ReadPosRankSum=1.9;SOR=5.281	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:16,3:19:71:0|1:7933277_G_A:71,0,656:7933277	4	0	2	1
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	.	.	.	.	.	.	.	.	0.2857	4345.04	146	chr1	10326244	.	G	C	4345.04	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-6.673;DP=888;ExcessHet=2.5225;FS=260.179;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=6.37;ReadPosRankSum=1.09;SOR=10.607	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:144,41:199:99:.:.:1275,0,4998:.	3	0	4	0
chr1	10463569	10463569	A	G	exonic	DFFA	.	nonsynonymous SNV	DFFA:NM_004401:exon4:c.T493C:p.C165R,DFFA:NM_213566:exon4:c.T493C:p.C165R	.	431	1073	18	0	0	18	0.00831793	.	.	.	695933	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.099	.	0.0090	0.00678914	0.0032	0.0241	0.0012	0	0	0.0018	0.0066	0.0001	0.0032535	503	154602	rs78046004	0.0018	0.0018	0.0019	0.0018	0.0268	0.0018	0.0018	0.0253	0.0248	0.0268	0.0023	0.0214	0	0	0.0203	0.0006	0.0048	0.0005	0.0082	0.0082	0.0083	0.0081	0.0246	0.0078	0.0076	0.0234	0.0229	0.0246	0	0.0050	0.0222	0	0	0.0238	0.0006	0.0076	0.0006	0.656	0.04757	T	0.449	0.13140	T	0.642	0.40549	P	0.185	0.36047	B	0.124039	0.18896	N	0.617378	0.99979	0.20372	N	2.19	0.61577	M	.	.	.	0.73	0.02195	N	0.154	0.19055	-1.0234	0.22606	T	0.020	0.08360	T	9	0.002888918	0.00046	T	.	.	.	0.099	0.28413	.	.	0.437850553699	0.43404	0.14632145510919561	0.14554	0.453488044029	0.45036	0.316828966141	0.12940	T	0.033314	0.22860	T	-0.547037	0.00304	T	-0.537608	0.18531	T	0.0197872182571099	0.00680	T	0.456654	0.13107	T	0.15799332	0.35569	0.1378226	0.32933	0.15799332	0.35569	0.1378226	0.32932	-0.217	0.00457	T	.	.	0.070	0.03625	B	.;.	.;.	0.531999	0.09008	5.789	0.68014326941382819	0.08528	0.04908	0.10658	N	AEFGBI	0.044949	0.07294	N	-0.727211795916347	0.15259	0.7674743	-0.82573053905089	0.13872	0.7219601	0.592141819624075	0.21655	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.09	-0.38	0.11868	0.656000	0.24632	-0.030000	0.12807	0.751000	0.87719	0.023000	0.19925	0.000000	0.08366	0.524000	0.29567	0.3656:0.1456:0.4888:0.0	6.631	0.22049	355	0.85216	DNA fragmentation factor 45kDa, middle domain|DNA fragmentation factor 45kDa, middle domain;DNA fragmentation factor 45kDa, middle domain|DNA fragmentation factor 45kDa, middle 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	0.025732	0.015152	0.028533	0.047059	0.000000	0.051724	0.009146	0.003788	0.08333	409.27	36	chr1	10463569	.	A	G	409.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.433;DP=199;ExcessHet=0;FS=1.204;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.09;ReadPosRankSum=2.2;SOR=0.484	GT:AD:DP:GQ:PL	0/1:27,18:45:99:419,0,733	5	0	1	1
chr1	13176756	13176756	A	G	exonic	PRAMEF27;PRAMEF9	.	nonsynonymous SNV	PRAMEF9:NM_001010890:exon2:c.A809G:p.H270R,PRAMEF27:NM_001300891:exon3:c.A809G:p.H270R	.	913	604	3	2	0	7	0.00576132	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1368890214	0.0042	0.0086	0.0039	0.0044	0.0196	0.0040	0.0039	0.0143	0.0125	0.0035	0.0012	0.0092	0.0020	0.0027	0.0196	0.0039	0.0043	0.0074	0.0043	0.0057	0.0045	0.0041	0.0074	0.0038	0.0036	0.0038	0.0035	0.0046	0	0.0009	0.0066	0.0009	0	0.0169	0.0047	0.0071	0.0074	.	.	.	0.57	0.08808	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.00882	.	.	.	.	.	.	.	0.011972338	0.00259	T	.	.	.	.	.	.	.	.	.	0.09978324942596131	0.09909	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.02313	B	.	.	-1.947450	0.00114	0.002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.165000	0.03242	-10.558000	0.00689	-4.735000	0.00021	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	130.53	9	chr1	13176756	.	A	G	130.53	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.202;DP=71;ExcessHet=0;FS=12.175;MLEAC=1;MLEAF=0.083;MQ=25.03;MQRankSum=1.85;QD=11.87;ReadPosRankSum=-0.087;SOR=1.032	GT:AD:DP:GQ:PL	0/1:5,6:11:99:140,0,105	5	0	1	1
chr1	13342607	13342607	C	T	exonic	PRAMEF14	.	nonsynonymous SNV	PRAMEF14:NM_001024661:exon4:c.G1346A:p.R449K	.	503	1001	17	1	0	19	0.00940129	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00109974540678	.	.	0.0019	0	0.0011	0	0	0.0009	0	0.0085	3.84e-05	1	26028	rs1324541849	0.0003	0.0003	0.0002	0.0004	0.0053	0.0003	0.0003	0.0036	0.0030	2.995e-05	0.0002	0	0	0	0.0053	0.0001	0.0006	0.0029	0.0003	0.0003	0.0002	0.0004	0.0021	0.0002	0.0002	0.0012	0.0009	0	0	0.0009	0	0	0	0	0.0003	0.0010	0.0021	0.626	0.05214	T	0.71	0.05525	T	.	.	.	.	.	.	0.111987	0.02648	N	1.865810	1	0.08975	N	.	.	.	0.99	0.41750	T	-0.73	0.20576	N	0.136	0.13341	-0.9325	0.43770	T	0.079	0.31375	T	10	0.009587437	0.00216	T	0.004777	0.11941	T	0.134	0.36365	.	.	0.262679179196	0.25893	0.2802771960510292	0.27940	2.37714289507	0.96994	.	.	.	.	.	.	-0.351935	0.04606	T	-0.743307	0.03752	T	0.0367927106218515	0.03119	T	0.49835	0.15517	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.33868	B	.	.	0.099966	0.05017	1.569	0.83514178786859039	0.14768	0.00111	0.00708	N	AEFI	0.023594	0.01336	N	-1.22802562129505	0.04598	0.2078294	-1.48912795905479	0.02433	0.1118918	3.51584852855449E-4	0.06668	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.69	-3.38	0.04577	-1.397000	0.02617	-20.000000	0.00162	0.295000	0.18837	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.3219:0.2422:0.1618:0.2741	0.115	0.00055	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	0.005784	0.000000	0.002770	0.004587	0.000000	0.018182	0.004274	0.008929	0.07143	1348.44	37	chr1	13342607	.	C	T	1348.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.25;DP=313;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=58.05;MQRankSum=2.23;QD=12.37;ReadPosRankSum=1.83;SOR=0.752	GT:AD:DP:GQ:PL	0/1:58,51:109:99:1359,0,1508	6	0	1	0
chr1	15251806	15251806	G	A	exonic	FHAD1	.	nonsynonymous SNV	FHAD1:NM_052929:exon2:c.G22A:p.A8T	.	411	1106	4	1	0	6	0.00270514	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.0155139114201	.	0.00239617	0.0012	0.0092	0.0025	0	0	0.0001	0.0041	0.0004	0.0002717	42	154602	rs115891318	0.0003	0.0003	0.0004	0.0003	0.0090	0.0003	0.0003	0.0081	0.0078	0.0090	0.0007	0	5.597e-05	0	0.0014	6.95e-05	0.0005	0.0003	0.0026	0.0026	0.0027	0.0024	0.0088	0.0023	0.0023	0.0081	0.0078	0.0088	0	0.0009	0	0	0	0.0034	2.94e-05	0.0024	0.0002	0.127	0.27080	T	0.031	0.53788	D	0.897	0.49385	P	0.252	0.39069	B	0.178608	0.17166	U	0.493257	0.996333	0.23046	N	0.345	0.11182	N	0.92	0.44461	T	-0.93	0.24898	N	0.072	0.10340	-1.0995	0.04152	T	0.057	0.23980	T	10	0.004728228	0.00100	T	0.015514	0.36282	T	0.068	0.19811	.	.	0.0551355673512	0.04727	0.21655970750102463	0.21571	.	.	0.51753115654	0.41278	T	0.003448	0.02859	T	-0.471915	0.00827	T	-0.4434	0.28429	T	0.033531106774574	0.02559	T	0.658834	0.26791	T	0.08021534	0.18369	0.11904798	0.28735	0.08021534	0.18369	0.11904798	0.28734	-3.615	0.18074	T	.	.	0.103	0.20078	B	.;.	.;.	2.474005	0.31895	18.88	0.90243967727024876	0.19515	0.47032	0.27892	N	AEFBI	0.116384	0.22845	N	-0.190958187335377	0.33509	1.901933	-0.136758645122829	0.33922	1.945615	0.00210776275383699	0.09158	0.446893	0.09132	0	0.573078	0.20572	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.96	2.91	0.32903	0.872000	0.27688	3.474000	0.38602	0.674000	0.70861	0.972000	0.34453	0.998000	0.33993	0.743000	0.35541	0.0:0.1736:0.6218:0.2046	7.339	0.25801	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	0.006565	0.021277	0.005882	0.004065	0.000000	0.000000	0.000000	0.000000	0.07143	1268.49	37	chr1	15251806	.	G	A	1268.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.105;DP=259;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.14;ReadPosRankSum=1.46;SOR=0.633	GT:AD:DP:GQ:PL	0/1:23,51:74:99:1279,0,412	6	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	.	.	.	.	.	.	.	.	0.1667	241.94	90	chr1	15559540	.	G	C	241.94	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-2.795;DP=601;ExcessHet=0.4139;FS=225.808;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.2;ReadPosRankSum=1.12;SOR=7.903	GT:AD:DP:GQ:PL	0/1:80,31:111:99:137,0,1602	4	0	2	1
chr1	15929647	15929647	T	C	exonic	SPEN	.	nonsynonymous SNV	SPEN:NM_015001:exon11:c.T3407C:p.L1136P	.	432	1087	2	1	0	4	0.00183655	.	.	.	3608280	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.045	0.00391718341094	.	0.000399361	3.338e-05	0	0.0002	0	0	3.034e-05	0	0	4.53e-05	7	154602	rs184914524	1.642e-05	1.642e-05	1.906e-05	1.375e-05	0.0007	1.111e-05	9.33e-06	0.0002	0.0001	5.974e-05	4.472e-05	0	0	0	0.0007	1.439e-05	0	0	1.313e-05	1.312e-05	2.569e-05	0	0.0001	2.18e-06	8.2e-07	2.258e-05	9.06e-06	0	0	0.0001	0	0	0	0	0	0	0	0.118	0.28148	T	0.18	0.29442	T	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	0.999637	0.47961	D	1.085	0.27262	L	2.95	0.09635	T	-0.48	0.15379	N	0.341	0.38232	-1.0030	0.29050	T	0.018	0.07565	T	9	0.033000946	0.01465	T	0.003917	0.09242	T	0.045	0.12272	0.132	0.03662	0.143184338766	0.13958	0.28231343629091177	0.28144	0.379407620271	0.39337	0.463182151318	0.33747	T	0.127581	0.45469	T	-0.331871	0.05971	T	-0.538639	0.18431	T	0.0173935108977619	0.00477	T	0.571043	0.20346	T	0.051895842	0.09598	0.11825039	0.28544	0.051895842	0.09598	0.11825039	0.28543	-3.451	0.15752	T	.	.	0.088	0.11749	B	.	.	2.587087	0.33551	19.37	0.85670407498742951	0.16038	0.90811	0.52305	D	AEFBCIJ	0.222492	0.34698	N	-0.283903112528454	0.29769	1.653862	-0.0988968439032653	0.35436	2.050131	0.0295253882444391	0.13891	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.2	4.03	0.46115	2.766000	0.47312	5.050000	0.46989	0.665000	0.62972	0.998000	0.41325	1.000000	0.68203	0.998000	0.85391	0.0:0.15:0.0:0.85	8.621	0.33021	419	0.81524	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	5744.44	136	chr1	15929647	.	T	C	5744.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.031;DP=1050;ExcessHet=0;FS=2.457;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.15;ReadPosRankSum=-1.493;SOR=0.877	GT:AD:DP:GQ:PL	0/1:192,214:406:99:5755,0,4853	6	0	1	0
chr1	16563946	16563946	C	T	exonic	NBPF1	.	unknown	UNKNOWN	.	400	294	827	1	0	829	0.585039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1105	.	0.2789	0.2174	0.2967	0.1361	0.3057	0.2989	0.2631	0.2918	0.0008473	131	154602	rs3863779	0.0001	0.0001	0.0003	0	0.0012	0	0	.	.	0	0	0	.	0	0	0	0	0.0012	0	0.0026	0	0	.	0	0	.	.	0	.	0	0	.	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.336496	0.271084	0.351499	0.376068	0.277778	0.344828	0.297297	0.384000	0.4286	16269.5	430	chr1	16563946	.	C	T	16269.5	.	AC=6;AF=0.429;AN=14;BaseQRankSum=2.38;DP=3010;ExcessHet=8.2628;FS=0.606;MLEAC=6;MLEAF=0.429;MQ=58.73;MQRankSum=-7.271;QD=6.67;ReadPosRankSum=-0.073;SOR=0.812	GT:AD:DP:GQ:PL	0/1:400,214:614:99:5221,0,10974	1	0	6	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	0.4286	18013.5	619	chr1	16563989	.	G	C	18013.5	.	AC=6;AF=0.429;AN=14;BaseQRankSum=0.809;DP=4019;ExcessHet=8.2628;FS=0;MLEAC=6;MLEAF=0.429;MQ=59.42;MQRankSum=-0.593;QD=5.25;ReadPosRankSum=0.556;SOR=0.723	GT:AD:DP:GQ:PL	0/1:596,244:840:99:5058,0,15791	1	0	6	0
chr1	16564107	16564107	T	G	exonic	NBPF1	.	unknown	UNKNOWN	.	383	318	815	6	0	827	0.565277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4042	0.4090	0.4331	0.2091	0.4092	0.4156	0.4105	0.4299	0.0114492	298	26028	rs2990551	0	0.0008	0	0	.	0	0	.	.	0	0	0	.	0	0	0	0	0	0	0.0042	0	0	.	0	0	.	.	0	.	0	0	.	0	.	0	0	0	.	.	.	0.218	0.26066	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.17828	.	.	.	.	.	.	.	0.005626291	0.00125	T	.	.	.	.	.	.	.	.	.	0.015489301517433041	0.01504	.	.	0.533775627613	0.43567	T	.	.	.	-0.499041	0.00579	T	-0.954615	0.00248	T	.	.	.	0.465553	0.17787	T	.	.	.	.	.	.	.	.	-2.062	0.03424	T	.	.	0.177	0.38676	B	.;.	.;.	-0.174163	0.03224	0.539	0.25431419136250621	0.01172	0.01395	0.04735	N	AEFDBHCI	0.031569	0.03403	N	.	.	.	.	.	.	7.84172557205885E-4	0.07810	0.383005	0.05895	0	2.97E-4	0.00021	3	0.155693	0.03940	1	0.393	0.06807	0	.	.	0.566	-0.849	0.10181	-0.576000	0.05947	-14.342000	0.00409	-0.599000	0.04621	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	497	0.76227	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.364819	0.306250	0.372283	0.388889	0.187500	0.405172	0.335714	0.360000	0.4286	15251.5	646	chr1	16564107	.	T	G	15251.5	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-1.876;DP=3869;ExcessHet=8.2628;FS=0;MLEAC=6;MLEAF=0.429;MQ=55.69;MQRankSum=3.18;QD=4.75;ReadPosRankSum=1.46;SOR=0.634	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:759,124:883:99:.:.:1101,0,24171:.	1	0	6	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	26158.1	476	chr1	16564144	.	C	T	26158.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-0.919;DP=3008;ExcessHet=14.2834;FS=3.476;MLEAC=7;MLEAF=0.5;MQ=52.79;MQRankSum=-17.02;QD=8.98;ReadPosRankSum=0.726;SOR=0.923	GT:AD:DP:GQ:PL	0/1:503,154:657:99:3009,0,16676	0	0	7	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	19289.1	458	chr1	16564149	.	C	T	19289.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-1.453;DP=2860;ExcessHet=14.2834;FS=1.998;MLEAC=7;MLEAF=0.5;MQ=52.6;MQRankSum=6.43;QD=6.88;ReadPosRankSum=-0.812;SOR=0.526	GT:AD:DP:GQ:PL	0/1:403,228:631:99:5217,0,12480	0	0	7	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	0.1429	757.24	189	chr1	16564186	.	C	G	757.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.05;DP=1221;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=52.46;MQRankSum=2.65;QD=1;ReadPosRankSum=-0.236;SOR=0.674	GT:AD:DP:GQ:PL	0/1:342,58:400:99:625,0,11519	5	0	2	0
chr1	16577387	16577387	T	C	exonic	NBPF1	.	unknown	UNKNOWN	.	356	799	367	0	0	367	0.186768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0434	.	0.2397	0.1662	0.2034	0.4259	0.2658	0.2330	0.2715	0.2199	0.0002523	39	154602	rs672812	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.293	0.20811	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.327	0.36779	.	.	.	.	.	.	.	0.0049095154	0.00105	T	.	.	.	.	.	.	.	.	.	0.02503941752049605	0.02454	.	.	0.530892848969	0.43161	T	.	.	.	-0.607731	0.00131	T	-1.11074	0.00022	T	.	.	.	0.820118	0.47860	T	.	.	.	.	.	.	.	.	-10.2	0.75100	D	.	.	0.175	0.38263	B	.;.	.;.	-0.632514	0.01485	0.092	0.32524367853212488	0.01889	0.00033	0.00296	N	AEFI	0.015988	0.00334	N	.	.	.	.	.	.	7.48439775225963E-5	0.04552	0.163922	0.03765	0	0.096583	0.02683	0	0.083675	0.02720	0	0.24341	0.04801	0	.	.	.	.	.	-0.192000	0.09585	-8.658000	0.00933	-0.551000	0.04898	0.005000	0.17040	0.000000	0.08366	0.005000	0.06747	.	.	.	444	0.79803	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.224339	0.196970	0.248641	0.200820	0.150000	0.232759	0.243902	0.206107	0.1429	197.24	155	chr1	16577387	.	T	C	197.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=3.51;DP=1504;ExcessHet=0.3476;FS=3.264;MLEAC=2;MLEAF=0.143;MQ=44.03;MQRankSum=-3.813;QD=0.25;ReadPosRankSum=-1.508;SOR=1.225	GT:AD:DP:GQ:PL	0/1:322,38:360:48:48,0,8485	5	0	2	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	0.3571	627.36	36	chr1	16579293	.	A	G	627.36	.	AC=5;AF=0.357;AN=14;BaseQRankSum=0.692;DP=253;ExcessHet=4.7409;FS=122.377;MLEAC=5;MLEAF=0.357;MQ=35.32;MQRankSum=0.416;QD=3.18;ReadPosRankSum=-1.736;SOR=6.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:44,7:51:99:0|1:16579293_A_G:147,0,1826:16579293	2	0	5	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	0.3571	627.36	36	chr1	16579294	.	T	C	627.36	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-3.374;DP=253;ExcessHet=4.7409;FS=122.377;MLEAC=5;MLEAF=0.357;MQ=35.27;MQRankSum=0.416;QD=3.18;ReadPosRankSum=-1.762;SOR=6.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:44,7:51:99:0|1:16579293_A_G:147,0,1826:16579293	2	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	.	.	.	.	.	.	.	.	0.1429	2417.24	171	chr1	16757526	.	C	G	2417.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.181;DP=1351;ExcessHet=0.3476;FS=0.68;MLEAC=2;MLEAF=0.143;MQ=41.34;MQRankSum=-0.211;QD=3.78;ReadPosRankSum=1.08;SOR=0.596	GT:AD:DP:GQ:PL	0/1:276,54:330:99:661,0,7399	5	0	2	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	.	.	.	.	.	.	.	.	0.1429	625.24	272	chr1	16758952	.	G	A	625.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-1.862;DP=2162;ExcessHet=0.3476;FS=4.016;MLEAC=2;MLEAF=0.143;MQ=50.19;MQRankSum=-3.129;QD=0.62;ReadPosRankSum=1.02;SOR=1.162	GT:AD:DP:GQ:PL	0/1:332,61:393:99:536,0,11124	5	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	2070.98	13	chr1	16759590	.	G	GC	2070.98	.	AC=8;AF=0.571;AN=14;BaseQRankSum=5.81;DP=263;ExcessHet=0.0509;FS=7.311;MLEAC=8;MLEAF=0.571;MQ=43.96;MQRankSum=-0.716;QD=10.57;ReadPosRankSum=-3.26;SOR=0.626	GT:AD:DP:GQ:PL	1/1:0,10:10:30:349,30,0	2	3	2	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	.	.	.	.	.	.	.	.	0.07143	336.44	119	chr1	16760442	.	G	T	336.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.34;DP=604;ExcessHet=0;FS=4.615;MLEAC=1;MLEAF=0.071;MQ=39.98;MQRankSum=0.705;QD=3.09;ReadPosRankSum=0.825;SOR=1.546	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:94,15:109:99:0|1:16760442_G_T:347,0,3833:16760442	6	0	1	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	333.4	119	chr1	16760444	.	TAC	T	333.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.1;DP=604;ExcessHet=0;FS=4.615;MLEAC=1;MLEAF=0.071;MQ=40.55;MQRankSum=0.648;QD=3.03;ReadPosRankSum=1.06;SOR=1.523	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:95,15:110:99:0|1:16760442_G_T:344,0,3875:16760442	6	0	1	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	.	.	.	.	.	.	.	.	0.4286	2844.02	141	chr1	16760446	.	C	T	2844.02	.	AC=6;AF=0.429;AN=14;BaseQRankSum=2.82;DP=799;ExcessHet=8.2628;FS=21.558;MLEAC=6;MLEAF=0.429;MQ=46.08;MQRankSum=-0.253;QD=4.21;ReadPosRankSum=1.1;SOR=2.08	GT:AD:DP:GQ:PL	0/1:66,27:108:99:538,0,1738	1	0	6	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	.	.	.	.	.	.	.	.	0.1429	937.24	262	chr1	16760848	.	G	C	937.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-1.747;DP=1967;ExcessHet=0.3476;FS=4.031;MLEAC=2;MLEAF=0.143;MQ=57.75;MQRankSum=-6.867;QD=1.11;ReadPosRankSum=2.16;SOR=1.132	GT:AD:DP:GQ:PL	0/1:240,44:284:99:507,0,7178	5	0	2	0
chr1	17044783	17044783	T	C	exonic	SDHB	.	nonsynonymous SNV	SDHB:NM_003000:exon2:c.A178G:p.T60A	Cowden syndrome 2, Autosomal dominant;Gastrointestinal stromal tumor, Autosomal dominant, Isolated cases;Paraganglioma and gastric stromal sarcoma;Paragangliomas 4, Autosomal dominant;Pheochromocytoma, Autosomal dominant	0	1518	4	0	0	4	0.00131579	.	.	.	238187	Gastrointestinal_stromal_tumor|not_provided|Paragangliomas_4|Pheochromocytoma|SDHB-related_disorder|Carney-Stratakis_syndrome|Cowden_syndrome|Hereditary_cancer-predisposing_syndrome|not_specified|Hereditary_pheochromocytoma-paraganglioma	Human_Phenotype_Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764,Orphanet:44890|MedGen:C3661900|MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310,Orphanet:29072|Human_Phenotype_Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300,Orphanet:29072|MedGen:CN239418|MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864,Orphanet:97286|MONDO:MONDO:0016063,MedGen:C0018553,OMIM:PS158350,Orphanet:201|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0017366,MedGen:C1708353,Orphanet:29072	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.845	0.342984829718	0.0002	.	7.414e-05	0	0	0	0	0.0001	0	0	6.47e-05	10	154602	rs34599281	9.988e-05	9.987e-05	9.938e-05	0.0001	0.0001	8.646e-05	8.134e-05	0.0001	9.768e-05	5.974e-05	0	0	0	0	0	0.0001	4.968e-05	6.956e-05	6.57e-05	6.567e-05	3.854e-05	9.412e-05	0.0003	3.516e-05	2.616e-05	0.0001	8.291e-05	0	0	0.0003	0	0	0	0	7.35e-05	0	0	0.023	0.48186	D	0.122	0.47581	T	0.001	0.07471	B	0.005	0.11217	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.685	0.78553	M	-5.16	0.98796	D	-2.12	0.48184	N	0.862	0.85872	0.936	0.96183	D	0.934	0.97826	D	10	0.67948496	0.71193	D	0.342985	0.92065	D	0.845	0.95175	.	.	0.983091551675	0.98290	0.6323818218709532	0.63172	0.173623914911	0.19547	0.53711026907	0.44037	T	0.784768	0.94350	D	0.222567	0.76019	D	0.307627	0.88546	D	0.233980460552231	0.22140	T	0.974802	0.91047	D	0.43043634	0.62780	0.33751005	0.59540	0.42033783	0.62115	0.3684294	0.62133	-9.051	0.68025	D	0.2740677902587844	0.36822	0.114	0.24733	B	.;.;.	.;.;.	3.784237	0.54430	23.5	0.99376413964294741	0.61671	0.97498	0.75138	D	AEFDBI	0.876760	0.80096	D	0.240035330793247	0.53149	3.485047	0.373105705437549	0.59912	4.173247	0.999999999991865	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.65	5.65	0.86881	7.242000	0.77660	7.833000	0.70197	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.943000	0.48514	0.0:0.0:0.0:1.0	14.843	0.69869	835	0.38313	Succinate dehydogenase/fumarate reductase N-terminal|2Fe-2S ferredoxin-type iron-sulfur binding domain|2Fe-2S ferredoxin-type iron-sulfur binding domain;Succinate dehydogenase/fumarate reductase N-terminal|2Fe-2S ferredoxin-type iron-sulfur binding domain|2Fe-2S ferredoxin-type iron-sulfur binding domain;Succinate dehydogenase/fumarate reductase N-terminal|2Fe-2S ferredoxin-type iron-sulfur binding domain|2Fe-2S ferredoxin-type iron-sulfur 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	0.000504	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.1429	4693.26	34	chr1	17044783	.	T	C	4693.26	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.49;DP=577;ExcessHet=0.3476;FS=3.214;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=11.45;ReadPosRankSum=1.2;SOR=0.791	GT:AD:DP:GQ:PL	0/1:91,100:191:99:2326,0,1939	5	0	2	0
chr1	19328604	19328604	C	A	exonic	SLC66A1	.	nonsynonymous SNV	SLC66A1:NM_001040125:exon8:c.C837A:p.S279R,SLC66A1:NM_001040126:exon8:c.C642A:p.S214R,SLC66A1:NM_001287531:exon8:c.C504A:p.S168R,SLC66A1:NM_017765:exon9:c.C837A:p.S279R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.0115647526479	.	.	.	.	.	.	.	.	.	.	.	.	.	rs369719745	4.106e-06	4.104e-06	2.723e-06	5.502e-06	0.0007	1.48e-06	9.7e-07	0.0002	0.0001	0	0	0	0	0	0.0007	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.671	0.04972	T	0.577	0.08594	T	0.001	0.07471	B	0.002	0.06944	B	0.001838	0.00831	N	3.569320	1	0.08975	N	-0.165	0.04321	N	0.95	0.43279	T	0.86	0.01712	N	0.07	0.04668	-1.0365	0.18388	T	0.041	0.17827	T	10	0.047382593	0.04049	T	0.011565	0.29307	T	0.034	0.08419	0.285	0.24280	0.0401082797425	0.02173	0.1925835515514406	0.19176	0.370308150462	0.38557	0.323748767376	0.13988	T	5.48E-4	0.00213	T	-0.325336	0.06471	T	-0.705099	0.05551	T	0.0232902018690882	0.01058	T	0.309069	0.05976	T	0.034885142	0.04001	0.04276932	0.05169	0.034885142	0.04001	0.04276932	0.05168	-1.586	0.02175	T	.	.	0.102	0.19398	B	.;.;.	.;.;.	-0.907850	0.00913	0.034	0.45049599839420429	0.03508	0.13210	0.17726	N	AEFDBHCI	0.110047	0.21836	N	-1.4607744730251	0.02133	0.09388027	-1.48206724774874	0.02491	0.1146667	0.999378985087686	0.39355	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.635551	0.53088	0	.	.	4.02	-2.83	0.05425	-3.150000	0.00643	-4.193000	0.02289	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.2225:0.3899:0.3875	5.066	0.13919	602	0.67834	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	527.49	34	chr1	19328604	.	C	A	527.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.672;DP=220;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.99;ReadPosRankSum=-0.248;SOR=0.665	GT:AD:DP:GQ:PL	0/1:20,24:44:99:538,0,490	6	0	1	0
chr1	26282386	26282392	GCCGGGA	0	exonic	UBXN11	.	.	.	.	476	531	212	27	276	542	0.200301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	1271.16	30	chr1	26282386	.	GCCGGGA	*	1271.16	.	AC=3;AF=0.3;AN=10;BaseQRankSum=0.017;DP=230;ExcessHet=0.7136;FS=7.058;MLEAC=4;MLEAF=0.4;MQ=60;MQRankSum=0;QD=6.91;ReadPosRankSum=0.706;SOR=0.339	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,45:45:99:1|1:26282278_C_T:1973,136,0:26282278	3	1	1	2
chr1	33010830	33010830	-	AGGATGTGGCTTTGGAGA	exonic	AK2	.	stoploss	AK2:NM_001319142:exon6:c.571_572insTCTCCAAAGCCACATCCT:p.*191delinsFSKATS*,AK2:NM_001199199:exon7:c.673_674insTCTCCAAAGCCACATCCT:p.*225delinsFSKATS*,AK2:NM_013411:exon7:c.697_698insTCTCCAAAGCCACATCCT:p.*233delinsFSKATS*,AK2:NM_001319139:exon8:c.553_554insTCTCCAAAGCCACATCCT:p.*185delinsFSKATS*	Reticular dysgenesis, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0017	0.0023	0.0011	0.0012	0.0011	0.0020	0.0033	0.0007	0.0010373	27	26028	rs767742838	2.737e-06	0.0001	1.362e-06	4.126e-06	.	6.4e-07	4.3e-07	.	.	0	0	0	0	7.514e-05	0	0	0	0	0.0003	0.0037	0.0003	0.0004	0.0006	0.0002	0.0002	0.0002	0.0002	0.0002	0.0022	0.0004	0.0015	0.0002	0.0005	0	0.0003	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	93.45	26	chr1	33010830	.	T	TAGGATGTGGCTTTGGAGA	93.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.38;DP=214;ExcessHet=0;FS=3.751;MLEAC=1;MLEAF=0.071;MQ=58.26;MQRankSum=-6.606;QD=1.7;ReadPosRankSum=-2.783;SOR=1.272	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:49,6:55:99:0|1:33010830_T_TAGGATGTGGCTTTGGAGA:104,0,2036:33010830	6	0	1	0
chr1	33864375	33864375	G	C	exonic	HMGB4	.	nonsynonymous SNV	HMGB4:NM_001379301:exon1:c.G184C:p.A62P,HMGB4:NM_145205:exon2:c.G184C:p.A62P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.280	0.0172210765845	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.371e-05	0.0001	1.365e-05	1.378e-05	1.713e-05	8.95e-06	7.28e-06	1.095e-05	8.83e-06	0	0	0	0	0	0	1.713e-05	1.659e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.261	0.22962	T	.	.	.	.	.	.	0.002268	0.36887	N	0.232725	1	0.81001	D	2.925	0.84406	M	2.53	0.14038	T	-0.41	0.14000	N	0.298	0.33796	-0.9447	0.41863	T	0.096	0.36133	T	10	0.31336057	0.48787	T	0.017221	0.38829	T	0.280	0.59740	0.541	0.65304	0.665216195492	0.66240	0.5095415917327302	0.50876	0.0542822596113	0.05997	0.469324588776	0.34587	T	0.075125	0.35104	T	-0.0955755	0.37154	T	-0.375064	0.36297	T	0.896214962005615	0.54790	D	0.717028	0.32946	T	0.66919404	0.76389	0.69928217	0.82285	0.66919404	0.76391	0.69928217	0.82286	-9.75	0.72402	D	.	.	0.907	0.85273	P	.;.	.;.	3.846529	0.55689	23.6	0.99787954193147543	0.87396	0.97583	0.75704	D	AEFBI	0.698134	0.65591	D	0.515974743748389	0.68034	5.161935	0.389533307943009	0.60919	4.285059	0.975632487977862	0.29651	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.58	3.69	0.41483	3.461000	0.52800	7.273000	0.57997	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.924000	0.46004	0.0875:0.1685:0.744:0.0	7.420	0.26238	334	0.86273	High mobility group box domain|High mobility group box domain|High mobility group box domain;High mobility group box domain|High mobility group box domain|High mobility group box domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	36.12	61	chr1	33864375	.	G	C	36.12	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-3.091;DP=554;ExcessHet=0;FS=514.635;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.39;ReadPosRankSum=0.118;SOR=9.455	GT:AD:DP:GQ:PL	0/1:67,25:96:45:45,0,1536	4	0	1	2
chr1	41510704	41510704	C	T	exonic	HIVEP3	.	nonsynonymous SNV	HIVEP3:NM_001127714:exon8:c.G6965A:p.R2322Q,HIVEP3:NM_024503:exon9:c.G6968A:p.R2323Q	.	441	1015	63	3	0	69	0.0328728	.	.	.	3210888	HIVEP3-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.034	.	0.0033	0.0117812	0.0356	0.0037	0.0047	0	0.0112	0.0201	0.04	0.0835	0.0068046	1052	154602	rs200138511	0.0077	0.0077	0.0066	0.0088	0.0436	0.0076	0.0075	0.0424	0.0419	0.0010	0.0022	0.0082	8.225e-05	0.0020	0.0284	0.0059	0.0077	0.0436	0.0056	0.0056	0.0049	0.0064	0.0464	0.0053	0.0052	0.0414	0.0395	0.0016	0.0044	0.0052	0.0052	0.0004	0.0011	0.0442	0.0063	0.0038	0.0464	0.416	0.09958	T	0.538	0.09829	T	0.003	0.11197	B	0.001	0.04355	B	0.525819	0.05228	N	1.391920	1	0.08975	N	0	0.06538	N	3.39	0.05710	T	0.64	0.02442	N	0.08	0.05542	-0.9292	0.44256	T	0.009	0.03227	T	10	0.0020682514	0.00029	T	.	.	.	0.034	0.08419	.	.	.	.	0.03731201195281724	0.03678	0.214794834796	0.24017	0.266823649406	0.05730	T	0.046228	0.27362	T	-0.750832	0.00017	T	-0.81916	0.01470	T	0.00646410931088923	0.00072	T	0.60194	0.22516	T	0.027802156	0.02024	0.022926616	0.00310	0.027802156	0.02024	0.022926616	0.00310	-3.947	0.23143	T	.	.	0.069	0.03231	B	.;.;.	.;.;.	0.081924	0.04879	1.465	0.97642700603971289	0.35091	0.08842	0.14710	N	AEFBHI	0.070481	0.13993	N	-1.0625697389421	0.07343	0.3407994	-1.03510641758133	0.09019	0.4464783	0.987168077761876	0.31199	0.615465	0.37627	0	0.633656	0.55848	0	0.576033	0.28219	0	0.567892	0.33627	0	.	.	4.9	0.154	0.14196	0.004000	0.13007	-2.331000	0.03890	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.915000	0.45038	0.1449:0.3654:0.2839:0.2058	1.573	0.02460	455	0.79073	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.013875	0.005319	0.002770	0.005917	0.000000	0.026316	0.028662	0.034091	0.2143	1812.95	22	chr1	41510704	.	C	T	1812.95	.	AC=3;AF=0.214;AN=14;BaseQRankSum=3.6;DP=201;ExcessHet=0;FS=3.655;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=23.24;ReadPosRankSum=-0.333;SOR=1.222	GT:AD:DP:GQ:PL	1/1:0,44:44:99:1389,132,0	5	1	1	0
chr1	44800838	44800838	-	G	splicing	PLK3	NM_004073:exon2:c.211-2->G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.375e-06	2.052e-06	2.735e-06	0	1.802e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.802e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	512.59	27	chr1	44800838	.	A	AG	512.59	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.721;DP=194;ExcessHet=0;FS=3.005;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.24;ReadPosRankSum=-1.445;SOR=0.303	GT:AD:DP:GQ:PL	0/1:15,21:36:99:523,0,356	6	0	1	0
chr1	45509069	45509069	G	A	exonic	MMACHC	.	nonsynonymous SNV	MMACHC:NM_001330540:exon4:c.G532A:p.G178S,MMACHC:NM_015506:exon4:c.G703A:p.G235S	Methylmalonic aciduria and homocystinuria, cblC type, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.425	0.121800147059	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.40068	D	0.308	0.21880	T	0.739	0.42933	P	0.47	0.46768	P	0.000089	0.51296	D	0.206205	0.986991	0.40519	D	2.855	0.82945	M	-3.66	0.95212	D	-0.77	0.21429	N	0.375	0.52208	0.367	0.88595	D	0.717	0.90283	D	10	0.3572835	0.52447	T	0.122	0.80265	D	0.425	0.73299	0.324	0.30549	0.935716424596	0.93505	0.47131092784190015	0.47050	0.0406659084861	0.04362	0.426593840122	0.28743	T	0.382611	0.74466	T	0.16518	0.70680	D	-0.000507257	0.70303	D	0.922482132911682	0.58265	D	0.815218	0.46991	T	0.19315028	0.41013	0.12929885	0.31092	0.19315028	0.41013	0.12929885	0.31091	-4.3	0.28177	T	0.19503247361642087	0.25717	0.166	0.41016	B	.;.	.;.	3.973080	0.58349	24.0	0.99044445896163591	0.51095	0.89359	0.49776	D	AEFDBHCI	0.451805	0.50562	N	0.153652738246412	0.48984	3.104105	0.178759240937498	0.48685	3.081072	0.999968790626996	0.48965	0.631515	0.41029	0	0.697927	0.68747	0	0.606735	0.37207	0	0.636168	0.56350	0	.	.	4.98	4.06	0.46572	3.461000	0.52800	9.751000	0.81472	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.105000	0.18517	0.1526:0.0:0.8474:0.0	9.236	0.36625	205	0.92010	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	4108.25	34	chr1	45509069	.	G	A	4108.25	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.87;DP=530;ExcessHet=0.3476;FS=0.825;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=11.87;ReadPosRankSum=-0.854;SOR=0.639	GT:AD:DP:GQ:PL	0/1:95,80:175:99:2060,0,2441	5	0	2	0
chr1	46031409	46031409	G	A	exonic	MAST2	.	nonsynonymous SNV	MAST2:NM_001319245:exon24:c.G3011A:p.R1004H,MAST2:NM_001324321:exon24:c.G2549A:p.R850H,MAST2:NM_015112:exon24:c.G3011A:p.R1004H,MAST2:NM_001324320:exon25:c.G3032A:p.R1011H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.0151992205262	.	.	2.544e-05	0	0	0	0	4.585e-05	0	0	2.59e-05	4	154602	rs543929859	3.696e-05	3.694e-05	3.405e-05	3.991e-05	0.0002	2.896e-05	2.594e-05	3.345e-05	2.957e-05	5.977e-05	0	0	2.52e-05	0	0.0002	4.319e-05	3.315e-05	0	3.285e-05	3.283e-05	2.569e-05	4.034e-05	5.879e-05	1.261e-05	7.98e-06	1.972e-05	1.124e-05	2.412e-05	0	0	0	0	0	0	5.879e-05	0	0	0.056	0.38185	T	0.093	0.39799	T	0.003	0.11197	B	0.001	0.04355	B	0.264829	0.15242	N	0.692471	0.999878	0.25352	N	0.77	0.19370	N	-0.13	0.64818	T	-0.72	0.20358	N	0.217	0.24260	-0.9265	0.44645	T	0.158	0.49027	T	10	0.06449178	0.08560	T	0.015199	0.35793	T	0.063	0.18251	0.229	0.15556	0.569173210356	0.56582	0.19241628856684928	0.19159	0.235098826708	0.26036	0.327547669411	0.14564	T	0.01074	0.09664	T	-0.349063	0.04786	T	-0.557034	0.16657	T	0.00995015986192231	0.00132	T	0.741926	0.37414	T	0.02243358	0.00906	0.025329934	0.00574	0.02243358	0.00906	0.025329934	0.00574	-5.277	0.39714	T	.	.	0.066	0.03479	B	.;.	.;.	0.716938	0.10859	7.535	0.97896396632691052	0.36710	0.18051	0.20099	N	AEFDBCI	0.083370	0.16889	N	-1.00055890669155	0.08593	0.4034619	-1.06223194273679	0.08454	0.4157331	0.263659095804781	0.18817	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.85	-1.55	0.08105	-0.398000	0.07320	-1.332000	0.05694	-0.119000	0.14319	0.000000	0.06391	0.000000	0.08366	0.260000	0.23518	0.5882:0.1584:0.2534:0.0	5.829	0.17826	89	0.96298	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	2446.04	35	chr1	46031409	.	G	A	2446.04	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.83;DP=312;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=15.01;ReadPosRankSum=0.702;SOR=0.703	GT:AD:DP:GQ:PL	0/1:33,44:77:99:1203,0,699	5	0	2	0
chr1	50419106	50419106	G	0	exonic	DMRTA2	.	.	.	.	453	9	255	719	86	1779	0.98948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	2462.79	11	chr1	50419106	.	G	*	2462.79	.	AC=2;AF=0.143;AN=14;DP=111;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=24.63;SOR=1.007	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,12:17:99:1|0:50419101_CCGGCGG_C:735,173,216:50419101	5	0	2	0
chr1	53089882	53089882	G	C	exonic	SLC1A7	.	nonsynonymous SNV	SLC1A7:NM_001287597:exon8:c.C1063G:p.L355V,SLC1A7:NM_001287595:exon9:c.C1456G:p.L486V,SLC1A7:NM_006671:exon9:c.C1279G:p.L427V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.479	0.0921706380511	.	.	8.276e-06	0	0	0	0	0	0	6.069e-05	3.84e-05	1	26028	rs778135532	6.842e-06	6.84e-06	8.169e-06	5.501e-06	1.159e-05	3.46e-06	2.52e-06	3.81e-06	2.76e-06	0	0	0	0	0	0	8.094e-06	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.016	0.60972	D	0.998	0.73220	D	0.984	0.76113	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.415	0.69758	M	0.19	0.60236	T	-2.82	0.59545	D	0.565	0.63374	-0.2542	0.76246	T	0.394	0.74706	T	10	0.56004685	0.64736	D	0.092171	0.75842	D	0.479	0.77012	0.699	0.83592	0.617599811619	0.61451	0.9337017231943302	0.93349	0.430072730439	0.43270	0.836962997913	0.87631	D	0.094037	0.56081	T	0.108267	0.65172	D	0.0145962	0.71280	D	0.971038818359375	0.69167	D	0.962304	0.85970	D	0.76028454	0.81470	0.64594424	0.79299	0.76028454	0.81471	0.64594424	0.79300	-10.385	0.76184	D	.	.	0.697	0.72848	P	.;.;.	.;.;.	4.973658	0.82330	27.8	0.99851272648956002	0.93013	0.95714	0.65843	D	ALL	0.954223	0.97115	D	0.773848338759953	0.84445	8.290251	0.755359931779595	0.86555	8.927467	1.0	0.98316	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	5.62	5.62	0.85714	7.926000	0.87003	11.707000	0.94592	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.443000	0.27738	0.0:0.0:1.0:0.0	19.651	0.95811	506	0.75555	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	982.49	33	chr1	53089882	.	G	C	982.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.121;DP=253;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.46;ReadPosRankSum=-0.329;SOR=0.724	GT:AD:DP:GQ:PL	0/1:31,42:73:99:993,0,695	6	0	1	0
chr1	53289629	53289629	C	T	exonic	LRP8	.	nonsynonymous SNV	LRP8:NM_001018054:exon3:c.G305A:p.R102Q,LRP8:NM_004631:exon3:c.G305A:p.R102Q,LRP8:NM_017522:exon3:c.G305A:p.R102Q,LRP8:NM_033300:exon3:c.G305A:p.R102Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.698	0.123783924933	.	.	2.975e-05	0	0	0.0001	0	1.76e-05	0	7.437e-05	1.94e-05	3	154602	rs373226230	5.476e-06	5.472e-06	5.447e-06	5.505e-06	5.977e-05	2.36e-06	1.7e-06	9.9e-06	3.7e-06	5.977e-05	2.242e-05	0	2.522e-05	0	0	1.799e-06	0	2.326e-05	2.627e-05	2.625e-05	1.285e-05	4.029e-05	0.0002	8.14e-06	5.14e-06	1.914e-05	1.03e-05	7.217e-05	0	0	0	0.0002	0	0	0	0	0	0.014	0.57480	D	0.015	0.61642	D	0.987	0.67487	D	0.919	0.65474	D	.	.	.	.	0.999965	0.81001	D	1.605	0.40863	L	-3.65	0.95179	D	-2.67	0.57110	D	0.29	0.35832	0.278	0.87200	D	0.835	0.94489	D	9	0.27644324	0.45206	T	0.123784	0.80501	D	0.698	0.89099	0.394	0.41935	0.987854130062	0.98772	0.9151332734550394	0.91488	1.46387727901	0.86409	0.37051576376	0.20906	T	0.454	0.79366	T	0.162287	0.70413	D	0.177484	0.81850	D	0.77294510602951	0.44617	D	0.889011	0.61998	D	0.3789174	0.59239	0.3516301	0.60753	0.3789174	0.59239	0.3516301	0.60753	-7.776	0.63712	D	.	.	0.093	0.28261	B	.;.;.;.	.;.;.;.	4.418794	0.68417	25.2	0.9991281696251364	0.98167	0.94325	0.60806	D	AEFBI	0.561196	0.56929	D	-0.029233496727432	0.40535	2.408883	-0.0487003349020735	0.37548	2.199874	0.999995420754041	0.74766	0.631515	0.41029	0	0.577304	0.33150	0	0.697927	0.64325	0	0.635551	0.53088	0	.	.	5.18	3.32	0.37134	3.982000	0.56618	3.300000	0.37375	-0.202000	0.08738	0.183000	0.24101	0.998000	0.33993	0.086000	0.17578	0.0:0.8443:0.0:0.1557	10.862	0.46038	401	0.82673	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	.	.	.	.	.	.	.	.	0.08333	928.27	39	chr1	53289629	.	C	T	928.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.371;DP=251;ExcessHet=0;FS=1.912;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.06;ReadPosRankSum=0.275;SOR=0.994	GT:AD:DP:GQ:PL	0/1:39,38:77:99:938,0,930	5	0	1	1
chr1	54700343	54700343	G	A	exonic	MROH7	.	nonsynonymous SNV	MROH7:NM_001291332:exon16:c.G1541A:p.R514H,MROH7:NM_001039464:exon18:c.G2987A:p.R996H	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.0044816654894	0.0015	0.00139776	0.0007	0.0059	0.0008	0	0	0.0002	0.0023	0	0.0006015	93	154602	rs145665162	0.0002	0.0002	0.0002	0.0002	0.0041	0.0002	0.0002	0.0035	0.0033	0.0041	0.0004	0	0	0	0.0017	6.925e-05	0.0005	2.319e-05	0.0015	0.0015	0.0016	0.0014	0.0052	0.0014	0.0013	0.0046	0.0044	0.0052	0	0.0005	0	0	0	0	0.0001	0.0009	0.0002	0.035	0.45039	D	0.006	0.70582	D	0.999	0.77913	D	0.917	0.65306	D	0.303897	0.14550	N	0.610623	0.623011	0.32722	D	2.16	0.60381	M	4.77	0.02032	T	-2.5	0.54382	D	0.512	0.54322	-0.9872	0.33298	T	0.059	0.24797	T	10	0.01233986	0.00266	T	0.004482	0.11000	T	0.193	0.47281	.	.	0.221734844693	0.21761	0.15244645319157907	0.15166	0.3120935974	0.33510	0.533724427223	0.43560	T	0.009426	0.08585	T	-0.465327	0.00910	T	-0.439544	0.28859	T	0.026480839954679	0.01472	T	0.840516	0.51562	T	0.09089579	0.21283	0.08511104	0.19628	0.09089579	0.21282	0.08511104	0.19627	-6.109	0.47182	T	.	.	0.211	0.43909	B	.;.	.;.	4.253005	0.64575	24.7	0.99948469476679902	0.99923	0.47158	0.27920	N	AEFBI	0.165880	0.29241	N	0.525232541553584	0.68586	5.237694	0.460447340503259	0.65389	4.817791	9.78423266194482E-4	0.08079	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.586402	0.36253	0	.	.	5.5	4.52	0.54797	1.607000	0.36447	3.890000	0.40289	0.676000	0.76740	0.957000	0.33433	0.769000	0.26685	0.989000	0.64315	0.1058:0.0:0.8942:0.0	8.359	0.31508	802	0.44336	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003528	0.005051	0.008152	0.000000	0.000000	0.000000	0.000000	0.000000	0.1429	1773.29	34	chr1	54700343	.	G	A	1773.29	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.308;DP=306;ExcessHet=0.3476;FS=2.006;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=11.37;ReadPosRankSum=-1.25;SOR=0.512	GT:AD:DP:GQ:PL	0/1:37,32:69:99:754,0,862	5	0	2	0
chr1	85158755	85158755	A	G	exonic	SYDE2	.	nonsynonymous SNV	SYDE2:NM_032184:exon7:c.T3580C:p.F1194L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.00654077122755	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.59e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.23905	T	0.034	0.52727	D	0.0	0.02946	B	0.0	0.01387	B	0.089341	0.20432	N	0.527396	0.998858	0.21853	N	0	0.06538	N	3.28	0.06523	T	1.02	0.01369	N	0.042	0.01498	-0.9316	0.43903	T	0.002	0.00615	T	10	0.023369968	0.00610	T	0.006541	0.17243	T	0.020	0.03691	0.21	0.12781	0.0551355673512	0.04727	0.06610387111215123	0.06549	0.14237696093	0.16047	0.397826164961	0.24766	T	0.004802	0.04217	T	-0.355873	0.04369	T	-0.748963	0.03526	T	0.219421803951263	0.21435	T	0.513449	0.16474	T	0.053474132	0.10124	0.045122	0.05999	0.053474132	0.10124	0.045122	0.05999	-2.743	0.07671	T	.	.	0.392	0.59120	A	.	.	2.506013	0.32358	19.02	0.99124857947199441	0.53089	0.82995	0.42152	D	AEFGBI	0.191288	0.31849	N	-0.773932366158561	0.13992	0.6934386	-0.537640718649593	0.21134	1.141888	0.0731348463355377	0.15624	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.97	2.91	0.32903	2.498000	0.45023	3.315000	0.37496	-0.114000	0.14653	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.3343:0.3872:0.1116:0.1669	1.797	0.02879	676	0.60355	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2143	111.07	31	chr1	85158755	.	A	G	111.07	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-1.821;DP=278;ExcessHet=1.1394;FS=58.704;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=1.04;ReadPosRankSum=0.66;SOR=6.264	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:42,10:52:65:0|1:85158755_A_G:65,0,1219:85158755	4	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	.	.	.	.	.	.	.	.	0.4167	580.22	31	chr1	85158757	.	C	G	580.22	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-0.575;DP=313;ExcessHet=11.5949;FS=185.984;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=2.13;ReadPosRankSum=0.994;SOR=8.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:42,6:52:3:.:.:3,0,1546:.	1	0	5	1
chr1	94008251	94008251	C	T	exonic	ABCA4	.	nonsynonymous SNV	ABCA4:NM_000350:exon42:c.G5882A:p.G1961E	Cone-rod dystrophy 3;Fundus flavimaculatus, Autosomal recessive;Retinal dystrophy, early-onset severe, Autosomal recessive;Retinitis pigmentosa 19;Stargardt disease 1, Autosomal recessive	0	1444	76	2	0	80	0.0269542	.	.	YES	22927	Macular_dystrophy|Severe_early-childhood-onset_retinal_dystrophy|Inborn_genetic_diseases|Retinitis_pigmentosa_19|Age_related_macular_degeneration_2|Cone-rod_dystrophy_3|Retinal_dystrophy|See_cases|Retinitis_pigmentosa|not_specified|Cone_dystrophy|ABCA4-related_retinopathy|Syndromic_retinitis_pigmentosa|not_provided|ABCA4-related_disorder|Stargardt_disease|MACULAR_DEGENERATION,_AGE-RELATED,_2,_SUSCEPTIBILITY_TO	Human_Phenotype_Ontology:HP:0007638,Human_Phenotype_Ontology:HP:0007754,Human_Phenotype_Ontology:HP:0007798,Human_Phenotype_Ontology:HP:0007914,Human_Phenotype_Ontology:HP:0007919,Human_Phenotype_Ontology:HP:0007999,MedGen:C0730292|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200,Orphanet:364055,Orphanet:827|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0011137,MedGen:C1866422,OMIM:601718,Orphanet:791|MONDO:MONDO:0007932,MedGen:C3495438,OMIM:153800|MONDO:MONDO:0011395,MedGen:C1858806,OMIM:604116,Orphanet:1872|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|.|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MedGen:CN169374|MONDO:MONDO:0000455,MedGen:C0730290,Orphanet:1871|MONDO:MONDO:0800406,MedGen:CN322612|MedGen:C5680332,Orphanet:98661|MedGen:C3661900|MedGen:CN239167|MONDO:MONDO:0019353,MedGen:C0271093,Orphanet:827|.	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic/Pathogenic,_low_penetrance	.	.	.	.	.	.	.	.	0.760	.	0.0032	0.00319489	0.0051	0.0009	0.0022	0.0003	0.0008	0.0047	0.0099	0.0150	0.0046054	712	154602	rs1800553	0.0034	0.0035	0.0030	0.0038	0.0205	0.0034	0.0033	0.0175	0.0163	0.0011	0.0018	0.0222	0.0005	0.0012	0.0205	0.0024	0.0055	0.0131	0.0031	0.0031	0.0030	0.0032	0.0127	0.0029	0.0028	0.0101	0.0092	0.0006	0	0.0038	0.0239	0	0.0009	0.0238	0.0032	0.0047	0.0127	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	-0.115	0.04602	N	-3.22	0.93352	D	-6.59	0.91998	D	0.958	0.96758	0.718	0.93404	D	0.700	0.89672	D	10	0.013598174	0.00288	T	.	.	.	0.760	0.91837	.	.	0.95236220007	0.95186	0.9507908195564003	0.95063	0.525691241502	0.50218	0.808941185474	0.83330	D	0.735078	0.96525	D	0.104235	0.64747	D	0.388626	0.91732	D	0.0712524204673148	0.08825	T	0.987126	0.95588	D	0.9324829	0.94486	0.8545386	0.91810	0.84769195	0.87167	0.8462905	0.91256	-11.219	0.80845	D	.	.	0.798	0.79927	P	.;.	.;.	4.838295	0.78968	27.0	0.99769034245070287	0.85750	0.99004	0.89829	D	AEFGBI	0.838463	0.75598	D	0.346386318059294	0.58550	4.028	0.449684121595667	0.64697	4.730842	0.999999999850586	0.74766	0.549168	0.22868	0	0.563428	0.19063	0	0.59043	0.30614	0	0.616125	0.45549	0	.	.	5.35	5.35	0.76297	5.885000	0.69480	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.698000	0.34080	0.0:1.0:0.0:0.0	19.614	0.95621	400	0.82730	ABC transporter-like|ABC transporter-like;ABC transporter-like|ABC transporter-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0.021148	0.005051	0.020380	0.023392	0.000000	0.043103	0.015244	0.030303	0.07143	1300.63	33	chr1	94008251	.	C	T	1300.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.339;DP=271;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.01;ReadPosRankSum=2.04;SOR=0.76	GT:AD:DP:GQ:PL	0/1:49,51:100:99:1311,0,1221	6	0	1	0
chr1	99881109	99881109	A	G	exonic	AGL	.	nonsynonymous SNV	AGL:NM_000028:exon15:c.A1933G:p.T645A,AGL:NM_000642:exon15:c.A1933G:p.T645A,AGL:NM_000643:exon15:c.A1933G:p.T645A,AGL:NM_000644:exon15:c.A1933G:p.T645A,AGL:NM_000646:exon15:c.A1885G:p.T629A	Glycogen storage disease IIIa, Autosomal recessive;Glycogen storage disease IIIb, Autosomal recessive	1	1518	3	0	0	3	0.000987167	.	.	.	516123	Glycogen_storage_disease_type_III|not_provided	MONDO:MONDO:0009291,MedGen:C0017922,OMIM:232400,Orphanet:366|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.222	0.0158302128751	.	.	4.947e-05	0	8.687e-05	0	0	7.497e-05	0	0	7.12e-05	11	154602	rs576969969	5.063e-05	5.062e-05	4.357e-05	5.776e-05	0.0004	4.126e-05	3.779e-05	0.0002	0.0002	0	0.0004	0.0002	0	0	0.0003	2.968e-05	0.0001	0.0001	5.258e-05	5.254e-05	3.855e-05	6.726e-05	0.0002	2.558e-05	1.83e-05	5.287e-05	2.835e-05	0	0	0.0002	0.0003	0	0	0	4.41e-05	0	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.04355	B	0.000001	0.62929	D	0.098546	0.928607	0.27116	N	-2.735	0.00029	N	-1.69	0.82985	D	3.15	0.00121	N	0.406	0.44952	-0.9495	0.41058	T	0.045	0.19437	T	10	0.06758392	0.09438	T	0.01583	0.36777	T	0.222	0.51872	0.602	0.73346	0.717622369731	0.71514	0.41927865779125334	0.41843	0.0405049159976	0.04339	0.355544745922	0.18736	T	0.085475	0.37509	T	-0.298889	0.08764	T	-0.350954	0.39097	T	0.0457085811075749	0.04731	T	0.80112	0.46793	T	0.05034634	0.09082	0.05491873	0.09536	0.05034634	0.09081	0.05491873	0.09536	2.418	0.00035	T	0.06861885834221801	0.02506	0.056	0.00470	B	.;.;.;.;.	.;.;.;.;.	1.372198	0.17825	13.39	0.13762743206219819	0.00282	0.52448	0.29134	D	AEFBI	0.065726	0.12835	N	-0.838138258941096	0.12343	0.6010989	-0.569308984161782	0.20295	1.092799	4.63100418470655E-4	0.07066	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.655142	0.61905	0	.	.	5.9	4.77	0.60425	4.555000	0.60477	4.634000	0.44128	0.756000	0.94297	1.000000	0.71638	0.999000	0.35428	0.220000	0.22462	0.7363:0.0:0.1366:0.1271	5.560	0.16421	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	0.001007	0.000000	0.000000	0.002924	0.000000	0.025862	0.000000	0.000000	0.08333	863.27	34	chr1	99881109	.	A	G	863.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.337;DP=227;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.62;ReadPosRankSum=-0.389;SOR=0.54	GT:AD:DP:GQ:PL	0/1:17,32:49:99:873,0,428	5	0	1	1
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	.	.	.	.	.	.	.	.	0.3	930.75	58	chr1	109508616	.	G	C	930.75	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-1.655;DP=441;ExcessHet=1.383;FS=300.261;MLEAC=3;MLEAF=0.3;MQ=60;MQRankSum=0;QD=3.62;ReadPosRankSum=-0.012;SOR=8.497	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:67,16:83:99:0|1:109508616_G_C:276,0,2521:109508616	2	0	3	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	.	.	.	.	.	.	.	.	0.25	284.78	59	chr1	109508617	.	T	C	284.78	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-2.04;DP=370;ExcessHet=1.383;FS=185.939;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.08;ReadPosRankSum=0.414;SOR=7.824	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:67,16:83:99:0|1:109508616_G_C:276,0,2521:109508616	3	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	.	.	.	.	.	.	.	.	0.1667	271.9	60	chr1	109508618	.	T	C	271.9	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-2.733;DP=288;ExcessHet=0.4139;FS=84.419;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.9;ReadPosRankSum=0.787;SOR=6.183	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:67,16:83:99:0|1:109508616_G_C:276,0,2521:109508616	4	0	2	1
chr1	110222977	110222977	C	G	exonic	KCNC4	.	nonsynonymous SNV	KCNC4:NM_001039574:exon2:c.C692G:p.A231G,KCNC4:NM_001377330:exon2:c.C692G:p.A231G,KCNC4:NM_004978:exon2:c.C692G:p.A231G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.456	0.0722916072849	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0034	0.0008	0.0006	0.0008	0.0007	0.0006	0.0008	0.0008	0.0008	0	0.0003	0.0002	1.877e-05	0.0002	0.0008	0.0008	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.35918	T	0.315	0.21144	T	0.051	0.42493	B	0.157	0.41053	B	0.000921	0.41028	D	0.275191	0.99437	0.42258	D	2.415	0.69758	M	-4.19	0.96908	D	-2.8	0.59226	D	0.438	0.47672	0.589	0.91750	D	0.723	0.90514	D	10	0.35339242	0.52146	T	0.072292	0.71493	D	0.456	0.75483	0.363	0.36874	0.993177892102	0.99310	0.7526387987383419	0.75210	1.08132311467	0.77145	0.672360956669	0.63174	T	0.667086	0.90076	D	0.175355	0.71615	D	0.0141088	0.71248	D	0.842766284942627	0.49555	D	0.923008	0.74652	D	0.2548791	0.48519	0.22605044	0.47570	0.2548791	0.48519	0.22605044	0.47569	-8.263	0.63102	D	.	.	0.237	0.47944	B	.;.;.	.;.;.	3.598856	0.50823	23.0	0.99047415397653182	0.51162	0.96210	0.68040	D	AEFDGBI	0.477094	0.52023	N	0.0886515093145786	0.45935	2.841749	0.218624017239798	0.50879	3.275622	0.993656479131254	0.33302	0.651	0.46895	0	0.588066	0.40923	0	0.723109	0.80598	0	0.683762	0.67416	0	.	.	4.88	4.88	0.63131	2.965000	0.48892	7.666000	0.64515	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.9187:0.0:0.0813	11.857	0.51719	702	0.57624	Ion transport domain;Ion transport domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	191.13	70	chr1	110222977	.	C	G	191.13	.	AC=2;AF=0.25;AN=8;BaseQRankSum=-1.354;DP=601;ExcessHet=0.4139;FS=121.961;MLEAC=3;MLEAF=0.375;MQ=60;MQRankSum=0;QD=1.21;ReadPosRankSum=2.62;SOR=7.512	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:85,21:106:35:0|1:110222977_C_G:35,0,2366:110222977	2	0	2	3
chr1	114625318	114625318	A	G	exonic	DENND2C	.	nonsynonymous SNV	DENND2C:NM_198459:exon2:c.T667C:p.S223P,DENND2C:NM_001256404:exon4:c.T667C:p.S223P	.	428	1012	81	1	0	83	0.0393925	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	.	0.0069	0.0127796	0.0083	0.0164	0.0035	0.0003	0.0009	0.0033	0.0121	0.0336	0.0076325	1180	154602	rs61481107	0.0050	0.0050	0.0041	0.0058	0.0322	0.0049	0.0048	0.0312	0.0308	0.0174	0.0040	0.0058	0.0004	0.0008	0.0192	0.0027	0.0065	0.0322	0.0074	0.0074	0.0066	0.0082	0.0267	0.0071	0.0069	0.0230	0.0216	0.0157	0	0.0059	0.0035	0.0004	0.0008	0.0068	0.0032	0.0090	0.0267	0.041	0.41915	D	0.27	0.22359	T	0.71	0.50838	P	0.43	0.46123	B	0.946909	0.08314	N	0.974000	1	0.08975	N	1.23	0.30720	L	3.7	0.08547	T	-0.11	0.09627	N	0.298	0.33687	-0.9632	0.38567	T	0.009	0.03183	T	10	0.0032031536	0.00054	T	.	.	.	0.054	0.15330	.	.	0.43965937752	0.43585	0.3305454103579607	0.32967	0.219717392512	0.24512	0.45200419426	0.32217	T	0.001868	0.01280	T	-0.522665	0.00424	T	-0.499174	0.22434	T	0.0252535699938177	0.01306	T	0.692631	0.30204	T	0.08959558	0.20938	0.11387794	0.27486	0.08959558	0.20938	0.11387794	0.27485	-1.336	0.03392	T	.	.	0.151	0.33296	B	.;.;.	.;.;.	2.615992	0.33986	19.50	0.98189797006152302	0.39018	0.41650	0.26704	N	AEFI	0.132841	0.25230	N	0.0123055205367606	0.42415	2.555	0.00698991770262013	0.40038	2.383225	0.00520476885531698	0.10862	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.2	1.08	0.19456	1.001000	0.29384	4.435000	0.43365	0.691000	0.84096	0.969000	0.34210	1.000000	0.68203	0.591000	0.31164	0.5201:0.114:0.0888:0.2771	1.844	0.02964	728	0.54609	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.020141	0.005051	0.016304	0.023392	0.000000	0.017241	0.036585	0.041667	0.1429	2449.24	33	chr1	114625318	.	A	G	2449.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.1;DP=385;ExcessHet=0.3476;FS=2.235;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=10.33;ReadPosRankSum=2.31;SOR=0.542	GT:AD:DP:GQ:PL	0/1:68,51:119:99:1022,0,1716	5	0	2	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	.	.	.	.	.	.	.	.	0.3571	1393.41	90	chr1	114732648	.	C	G	1393.41	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-1.763;DP=766;ExcessHet=4.7409;FS=287.227;MLEAC=5;MLEAF=0.357;MQ=60;MQRankSum=0;QD=2.53;ReadPosRankSum=1.54;SOR=11.262	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:54,30:94:99:.:.:146,0,642:.	2	0	5	0
chr1	115768369	115768369	T	A	exonic	CASQ2	.	nonsynonymous SNV	CASQ2:NM_001232:exon1:c.A173T:p.E58V	Ventricular tachycardia, catecholaminergic polymorphic, 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	228265	not_specified|Catecholaminergic_polymorphic_ventricular_tachycardia_2|Catecholaminergic_polymorphic_ventricular_tachycardia_1|Cardiovascular_phenotype|not_provided	MedGen:CN169374|MONDO:MONDO:0012762,MedGen:C2677794,OMIM:611938,Orphanet:3286|MONDO:MONDO:0011484,MedGen:C1631597,OMIM:604772,Orphanet:3286|MedGen:CN230736|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.199	0.0358256075734	.	.	4.942e-05	0	0	0	0	8.99e-05	0	0	3.88e-05	6	154602	rs764732977	3.557e-05	3.557e-05	3.131e-05	3.988e-05	4.407e-05	2.762e-05	2.501e-05	3.373e-05	3.038e-05	0	0	0	0	0	0	4.407e-05	4.967e-05	0	5.257e-05	5.253e-05	7.707e-05	2.691e-05	0.0001	2.557e-05	1.83e-05	5.841e-05	4.239e-05	0	0	0	0	0	0	0	0.0001	0	0	0.167	0.23095	T	0.182	0.29249	T	0.108	0.26116	B	0.099	0.30579	B	0.000224	0.47286	D	0.219975	0.999301	0.46608	D	2.42	0.70002	M	0.99	0.41750	T	-2.63	0.56466	D	0.82	0.81559	-0.9962	0.30974	T	0.078	0.31163	T	10	0.82724094	0.81899	D	0.035826	0.56599	D	0.199	0.48268	0.7	0.83684	0.540472623666	0.53699	0.7886618005522901	0.78818	0.158420309708	0.17889	0.575785577297	0.49493	T	0.503384	0.82290	D	-0.112472	0.34361	T	-0.201691	0.54486	T	0.399961560964584	0.28940	T	0.849815	0.53298	T	0.2800987	0.51058	0.14308502	0.34017	0.2800987	0.51058	0.14308502	0.34016	-11.344	0.81511	D	0.14648610587816374	0.16900	0.152	0.33619	B	.	.	3.542988	0.49765	22.8	0.99030495757180248	0.50786	0.93699	0.58939	D	AEFDBI	0.841321	0.75852	D	-0.0415932933442127	0.39977	2.366469	0.0243622644384042	0.40849	2.444457	0.999889439555789	0.44867	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.49	4.36	0.51643	4.762000	0.61946	2.919000	0.35553	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.682000	0.33600	0.0:0.0:0.3149:0.6851	11.434	0.49301	783	0.47268	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1113.44	33	chr1	115768369	.	T	A	1113.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.205;DP=295;ExcessHet=0;FS=1.701;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=0.112;SOR=0.946	GT:AD:DP:GQ:PL	0/1:48,45:93:99:1124,0,1197	6	0	1	0
chr1	119743997	119743997	C	A	exonic	PHGDH	.	nonsynonymous SNV	PHGDH:NM_006623:exon12:c.C1559A:p.A520E	Neu-Laxova syndrome 1, Autosomal recessive;Phosphoglycerate dehydrogenase deficiency, Autosomal recessive	0	1517	5	0	0	5	0.00164528	.	.	.	718144	Inborn_genetic_diseases|PHGDH_deficiency|not_specified|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0011152,MedGen:C1866174,OMIM:601815,Orphanet:79351|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.379	0.0486002953822	0.0012	0.000399361	0.0009	0.0013	0.0010	0	0	0.0011	0.0011	0.0007	0.0008861	137	154602	rs151275800	0.0007	0.0007	0.0007	0.0007	0.0125	0.0007	0.0006	0.0102	0.0093	0.0011	0.0016	0.0069	0	0	0.0125	0.0004	0.0015	0.0011	0.0010	0.0010	0.0008	0.0012	0.0031	0.0009	0.0008	0.0024	0.0022	0.0008	0	0.0031	0.0075	0	0	0.0204	0.0004	0.0028	0.0006	.	.	.	.	.	.	0.0	0.02946	B	0.001	0.04355	B	0.566532	0.11282	N	0.828739	1	0.08975	N	1.04	0.26193	L	.	.	.	.	.	.	.	.	-0.8318	0.53185	T	0.234	0.60026	T	10	0.006540984	0.00148	T	0.049	0.63443	D	.	.	.	.	.	.	0.6366318522980537	0.63597	.	.	0.245699360967	0.03328	T	0.349448	0.71730	T	-0.269329	0.11832	T	-0.184276	0.56125	T	0.00205499541875495	0.00021	T	0.606339	0.22935	T	0.10596267	0.25054	0.12344998	0.29768	0.08888882	0.20750	0.12371422	0.29829	-3.725	0.19688	T	0.15874933436553146	0.19257	0.11	0.21201	B	.;.;.;.	.;.;.;.	1.436049	0.18546	13.80	0.92638486417996646	0.22111	0.16378	0.19361	N	AEFDGBHCI	0.393475	0.47110	N	-0.986973232252806	0.08881	0.4181502	-0.933380390494312	0.11309	0.5753723	0.999999769944465	0.74766	0.712529	0.81865	0	0.635938	0.57008	0	0.67197	0.60751	0	0.691587	0.68394	0	.	.	5.81	2.93	0.33092	0.593000	0.23700	1.025000	0.23435	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.851000	0.40252	0.1652:0.6653:0.0:0.1696	5.167	0.14419	755	0.51144	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010070	0.005051	0.016304	0.014620	0.000000	0.008621	0.000000	0.011364	0.07143	534.45	26	chr1	119743997	.	C	A	534.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.684;DP=207;ExcessHet=0;FS=4.388;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.43;ReadPosRankSum=1.03;SOR=0.593	GT:AD:DP:GQ:PL	0/1:21,22:43:99:545,0,475	6	0	1	0
chr1	144423045	144423045	C	T	exonic	NBPF15	.	nonsynonymous SNV	NBPF15:NM_001385447:exon16:c.G1756A:p.V586M,NBPF15:NM_001385417:exon17:c.G1981A:p.V661M,NBPF15:NM_001385446:exon17:c.G1756A:p.V586M,NBPF15:NM_001385405:exon18:c.G1981A:p.V661M,NBPF15:NM_001385448:exon18:c.G2065A:p.V689M,NBPF15:NM_001385410:exon19:c.G1981A:p.V661M,NBPF15:NM_001385413:exon19:c.G1981A:p.V661M,NBPF15:NM_001385416:exon19:c.G1981A:p.V661M,NBPF15:NM_001385432:exon19:c.G1981A:p.V661M,NBPF15:NM_001385438:exon19:c.G1981A:p.V661M,NBPF15:NM_001385407:exon20:c.G1981A:p.V661M,NBPF15:NM_001385418:exon20:c.G1981A:p.V661M,NBPF15:NM_001385424:exon20:c.G1981A:p.V661M,NBPF15:NM_001385427:exon20:c.G1981A:p.V661M,NBPF15:NM_001385439:exon20:c.G1981A:p.V661M,NBPF15:NM_001385440:exon20:c.G1981A:p.V661M,NBPF15:NM_001385443:exon20:c.G1870A:p.V624M,NBPF15:NM_001385445:exon20:c.G1870A:p.V624M,NBPF15:NM_001385376:exon21:c.G1981A:p.V661M,NBPF15:NM_001385377:exon21:c.G1981A:p.V661M,NBPF15:NM_001385403:exon21:c.G1981A:p.V661M,NBPF15:NM_001385404:exon21:c.G1981A:p.V661M,NBPF15:NM_001385409:exon21:c.G1981A:p.V661M,NBPF15:NM_001385411:exon21:c.G1981A:p.V661M,NBPF15:NM_001385414:exon21:c.G1981A:p.V661M,NBPF15:NM_001385441:exon21:c.G1981A:p.V661M,NBPF15:NM_173638:exon21:c.G1981A:p.V661M,NBPF15:NM_001385373:exon22:c.G1981A:p.V661M,NBPF15:NM_001385374:exon22:c.G1981A:p.V661M,NBPF15:NM_001385375:exon22:c.G1981A:p.V661M,NBPF15:NM_001385408:exon22:c.G1981A:p.V661M,NBPF15:NM_001385412:exon22:c.G1981A:p.V661M,NBPF15:NM_001385415:exon22:c.G1981A:p.V661M,NBPF15:NM_001385420:exon22:c.G1981A:p.V661M,NBPF15:NM_001385423:exon22:c.G1981A:p.V661M,NBPF15:NM_001385430:exon22:c.G1981A:p.V661M,NBPF15:NM_001385431:exon22:c.G1981A:p.V661M,NBPF15:NM_001385433:exon22:c.G1981A:p.V661M,NBPF15:NM_001385434:exon22:c.G1981A:p.V661M,NBPF15:NM_001385436:exon22:c.G1981A:p.V661M,NBPF15:NM_001385442:exon22:c.G1870A:p.V624M,NBPF15:NM_001385444:exon22:c.G1870A:p.V624M,NBPF15:NM_001385378:exon23:c.G1981A:p.V661M,NBPF15:NM_001385406:exon23:c.G1981A:p.V661M,NBPF15:NM_001385419:exon23:c.G1981A:p.V661M,NBPF15:NM_001385421:exon23:c.G1981A:p.V661M,NBPF15:NM_001385422:exon23:c.G1981A:p.V661M,NBPF15:NM_001385425:exon23:c.G1981A:p.V661M,NBPF15:NM_001385428:exon23:c.G1981A:p.V661M,NBPF15:NM_001385429:exon23:c.G1981A:p.V661M,NBPF15:NM_001385435:exon23:c.G1981A:p.V661M,NBPF15:NM_001385437:exon23:c.G1981A:p.V661M,NBPF15:NM_001170755:exon24:c.G1981A:p.V661M,NBPF15:NM_001385426:exon24:c.G1981A:p.V661M	.	483	1034	5	0	0	5	0.00241196	.	.	.	2678386	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.059	0.000298833114301	.	.	.	.	.	.	.	.	.	.	.	.	.	rs782739043	9.592e-05	9.578e-05	8.317e-05	0.0001	0.0012	8.255e-05	7.795e-05	0.0005	0.0003	8.981e-05	2.237e-05	0	0	0	0.0012	7.287e-05	0.0001	0.0005	8.554e-05	8.539e-05	2.572e-05	0.0001	0.0004	4.964e-05	3.968e-05	7.293e-05	3.057e-05	0.0001	0	0	0	0	0	0	8.826e-05	0	0.0004	.	.	.	0.008	0.67890	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.83	0.03702	T	.	.	.	0.277	0.31365	.	.	.	.	.	.	.	0.14481494	0.27478	T	.	.	.	.	.	.	.	.	.	0.018304748200353018	0.01784	.	.	.	.	.	0.027936	0.20347	T	.	.	.	.	.	.	.	.	.	0.828817	0.49341	T	.	.	.	.	.	.	.	.	-4.447	0.30189	T	.	.	0.328	0.55096	B	.;.;.	.;.;.	1.741536	0.22157	15.51	.	.	.	.	.	.	0.019378	0.00667	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.925000	0.28392	-1.890000	0.04545	0.281000	0.18624	0.016000	0.19238	0.000000	0.08366	0.003000	0.05239	.	.	.	.	.	Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	2576.46	40	chr1	144423045	.	C	T	2576.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.05;DP=401;ExcessHet=0;FS=3.161;MLEAC=1;MLEAF=0.071;MQ=53.28;MQRankSum=-0.478;QD=12.45;ReadPosRankSum=-0.796;SOR=0.504	GT:AD:DP:GQ:PL	0/1:104,103:207:99:2587,0,2457	6	0	1	0
chr1	144423956	144423956	C	A	exonic	NBPF15	.	nonsynonymous SNV	NBPF15:NM_001385447:exon15:c.G1458T:p.K486N,NBPF15:NM_001385417:exon16:c.G1683T:p.K561N,NBPF15:NM_001385446:exon16:c.G1458T:p.K486N,NBPF15:NM_001385405:exon17:c.G1683T:p.K561N,NBPF15:NM_001385448:exon17:c.G1767T:p.K589N,NBPF15:NM_001385410:exon18:c.G1683T:p.K561N,NBPF15:NM_001385413:exon18:c.G1683T:p.K561N,NBPF15:NM_001385416:exon18:c.G1683T:p.K561N,NBPF15:NM_001385432:exon18:c.G1683T:p.K561N,NBPF15:NM_001385438:exon18:c.G1683T:p.K561N,NBPF15:NM_001385407:exon19:c.G1683T:p.K561N,NBPF15:NM_001385418:exon19:c.G1683T:p.K561N,NBPF15:NM_001385424:exon19:c.G1683T:p.K561N,NBPF15:NM_001385427:exon19:c.G1683T:p.K561N,NBPF15:NM_001385439:exon19:c.G1683T:p.K561N,NBPF15:NM_001385440:exon19:c.G1683T:p.K561N,NBPF15:NM_001385443:exon19:c.G1572T:p.K524N,NBPF15:NM_001385445:exon19:c.G1572T:p.K524N,NBPF15:NM_001385376:exon20:c.G1683T:p.K561N,NBPF15:NM_001385377:exon20:c.G1683T:p.K561N,NBPF15:NM_001385403:exon20:c.G1683T:p.K561N,NBPF15:NM_001385404:exon20:c.G1683T:p.K561N,NBPF15:NM_001385409:exon20:c.G1683T:p.K561N,NBPF15:NM_001385411:exon20:c.G1683T:p.K561N,NBPF15:NM_001385414:exon20:c.G1683T:p.K561N,NBPF15:NM_001385441:exon20:c.G1683T:p.K561N,NBPF15:NM_173638:exon20:c.G1683T:p.K561N,NBPF15:NM_001385373:exon21:c.G1683T:p.K561N,NBPF15:NM_001385374:exon21:c.G1683T:p.K561N,NBPF15:NM_001385375:exon21:c.G1683T:p.K561N,NBPF15:NM_001385408:exon21:c.G1683T:p.K561N,NBPF15:NM_001385412:exon21:c.G1683T:p.K561N,NBPF15:NM_001385415:exon21:c.G1683T:p.K561N,NBPF15:NM_001385420:exon21:c.G1683T:p.K561N,NBPF15:NM_001385423:exon21:c.G1683T:p.K561N,NBPF15:NM_001385430:exon21:c.G1683T:p.K561N,NBPF15:NM_001385431:exon21:c.G1683T:p.K561N,NBPF15:NM_001385433:exon21:c.G1683T:p.K561N,NBPF15:NM_001385434:exon21:c.G1683T:p.K561N,NBPF15:NM_001385436:exon21:c.G1683T:p.K561N,NBPF15:NM_001385442:exon21:c.G1572T:p.K524N,NBPF15:NM_001385444:exon21:c.G1572T:p.K524N,NBPF15:NM_001385378:exon22:c.G1683T:p.K561N,NBPF15:NM_001385406:exon22:c.G1683T:p.K561N,NBPF15:NM_001385419:exon22:c.G1683T:p.K561N,NBPF15:NM_001385421:exon22:c.G1683T:p.K561N,NBPF15:NM_001385422:exon22:c.G1683T:p.K561N,NBPF15:NM_001385425:exon22:c.G1683T:p.K561N,NBPF15:NM_001385428:exon22:c.G1683T:p.K561N,NBPF15:NM_001385429:exon22:c.G1683T:p.K561N,NBPF15:NM_001385435:exon22:c.G1683T:p.K561N,NBPF15:NM_001385437:exon22:c.G1683T:p.K561N,NBPF15:NM_001170755:exon23:c.G1683T:p.K561N,NBPF15:NM_001385426:exon23:c.G1683T:p.K561N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.00141525601356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	8.21e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.63918	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84	0.03675	T	.	.	.	0.108	0.10056	.	.	.	.	.	.	.	0.1027112	0.18840	T	.	.	.	.	.	.	.	.	.	0.002413483957970472	0.00224	.	.	.	.	.	0.022522	0.17347	T	.	.	.	.	.	.	.	.	.	0.886611	0.61335	D	.	.	.	.	.	.	.	.	-7.022	0.54194	T	.	.	0.376	0.58191	A	.;.;.	.;.;.	1.044668	0.14254	10.83	.	.	.	.	.	.	0.028810	0.02606	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.382000	0.20364	-1.061000	0.06451	0.084000	0.17577	0.002000	0.15269	0.000000	0.08366	0.189000	0.21571	.	.	.	.	.	Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	768.49	39	chr1	144423956	.	C	A	768.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.425;DP=215;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=54.7;MQRankSum=-0.39;QD=14.5;ReadPosRankSum=-0.018;SOR=0.732	GT:AD:DP:GQ:PL	0/1:21,32:53:99:779,0,408	6	0	1	0
chr1	145872713	145872713	C	G	exonic	ANKRD35	.	nonsynonymous SNV	ANKRD35:NM_001280799:exon8:c.G1786C:p.A596P,ANKRD35:NM_144698:exon10:c.G2056C:p.A686P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.635e-05	0	1.376e-06	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	0.39575	D	0.122	0.35710	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	0.59037	T	-1.95	0.45222	N	0.526	0.55540	.	.	.	.	.	.	.	0.42498738	0.57114	T	.	.	.	.	.	.	.	.	.	0.8187195895967326	0.81828	.	.	.	.	.	0.082225	0.36779	T	.	.	.	.	.	.	.	.	.	0.812719	0.46458	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.743	0.77826	P	.;.	.;.	3.961182	0.58095	23.9	.	.	.	.	.	.	0.492730	0.52925	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.132000	0.41706	4.040000	0.41416	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	.	.	.	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	176.91	63	chr1	145872713	.	C	G	176.91	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-3.334;DP=628;ExcessHet=1.383;FS=138.631;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=0.79;ReadPosRankSum=0.289;SOR=9.21	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:77,25:104:99:.:.:166,0,2339:.	3	0	3	1
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	.	.	.	.	.	.	.	.	0.2857	245.64	63	chr1	145872714	.	C	G	245.64	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-4.041;DP=635;ExcessHet=2.5225;FS=134.218;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=0.65;ReadPosRankSum=-0.141;SOR=9.17	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:77,28:105:99:.:.:185,0,2338:.	3	0	4	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	.	.	.	.	.	.	.	.	0.25	3098.05	225	chr1	149075685	.	C	A	3098.05	.	AC=3;AF=0.25;AN=12;BaseQRankSum=2.32;DP=2080;ExcessHet=1.1394;FS=6.999;MLEAC=3;MLEAF=0.25;MQ=47.18;MQRankSum=-6.663;QD=2.54;ReadPosRankSum=-2.949;SOR=1.315	GT:AD:DP:GQ:PL	0/1:435,92:527:99:893,0,10873	3	0	3	1
chr1	149079127	149079127	C	G	exonic	NBPF9	.	nonsynonymous SNV	NBPF9:NM_001037675:exon4:c.G373C:p.E125Q,NBPF9:NM_001277444:exon4:c.G373C:p.E125Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	.	.	.	0.0644	0.0770	0.0487	0.0410	0.0303	0.0633	0.0866	0.0969	0.0106808	278	26028	.	8.799e-07	7.127e-05	1.795e-06	0	1.217e-06	0	0	.	.	0	0	0	0	0	0	1.217e-06	0	0	6.917e-05	0.0006	9.41e-05	4.275e-05	0.0002	3.691e-05	2.843e-05	6.773e-05	4.555e-05	0.0002	0	0	0	0.0002	9.903e-05	0	1.515e-05	0	0.0002	.	.	.	0.199	0.27679	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.05414	-0.9539	0.40292	T	0.001	0.00318	T	6	0.0030939877	0.00051	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.547456741333	0.45498	T	.	.	.	-0.147531	0.28698	T	-0.449695	0.27730	T	0.00119219371206561	0.00012	T	0.891311	0.66975	D	0.099779524	0.23552	0.08344974	0.19124	0.099779524	0.23552	0.08344974	0.19124	-9.559	0.71226	D	.	.	0.079	0.36869	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.030248	0.04496	1.203	0.057885152920866254	0.00015	0.00003	0.00079	N	AEFI	0.013383	0.00176	N	-1.68197913367445	0.00907	0.03928493	-1.79824352941992	0.00765	0.03410724	1.92802502388975E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	0.521	-1.04	0.09555	-0.551000	0.06117	-1.586000	0.05115	-1.150000	0.01427	0.000000	0.06391	0.000000	0.08366	0.056000	0.15673	.	.	.	889	0.27310	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	37.29	10	chr1	149079127	.	C	G	37.29	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.804;DP=114;ExcessHet=0;FS=12.856;MLEAC=1;MLEAF=0.083;MQ=35.12;MQRankSum=-0.542;QD=2.33;ReadPosRankSum=0;SOR=3.606	GT:AD:DP:GQ:PL	0/1:13,3:16:47:47,0,444	5	0	1	1
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	.	.	.	.	.	.	.	.	0.2143	308.37	34	chr1	149476000	.	C	A	308.37	.	AC=3;AF=0.214;AN=14;BaseQRankSum=4.59;DP=571;ExcessHet=1.1394;FS=27.558;MLEAC=3;MLEAF=0.214;MQ=33.26;MQRankSum=-4.196;QD=0.67;ReadPosRankSum=-3.548;SOR=3.886	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:96,11:107:99:0|1:149475995_C_T:173,0,3969:149475995	4	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	.	.	.	.	.	.	.	.	0.2143	462.89	34	chr1	149476006	.	G	A	462.89	.	AC=3;AF=0.214;AN=14;BaseQRankSum=4.28;DP=629;ExcessHet=1.1394;FS=21.18;MLEAC=3;MLEAF=0.214;MQ=34.08;MQRankSum=-3.792;QD=0.95;ReadPosRankSum=-3.431;SOR=3.262	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:103,12:115:99:0|1:149475995_C_T:179,0,4108:149475995	4	0	3	0
chr1	152314270	152314270	C	G	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.G616C:p.E206Q	Ichthyosis vulgaris, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.00695857441232	.	.	1.65e-05	0	0	0.0001	0	1.5e-05	0	0	1.29e-05	2	154602	rs755239247	3.421e-06	3.42e-06	2.723e-06	4.126e-06	2.519e-05	1e-06	7.3e-07	7.2e-07	2e-07	0	0	0	2.519e-05	0	0	2.698e-06	0	1.159e-05	3.948e-05	3.942e-05	2.572e-05	5.39e-05	8.825e-05	1.717e-05	1.131e-05	3.763e-05	2.576e-05	0	0	0	0	0	0	0	8.825e-05	0	0	0.052	0.39097	T	.	.	.	0.826	0.45919	P	0.34	0.42389	B	.	.	.	.	1	0.08975	N	0.69	0.16971	N	5.9	0.00626	T	-0.15	0.09297	N	0.076	0.05037	-0.8895	0.48978	T	0.001	0.00188	T	9	0.061300904	0.07666	T	0.006959	0.18430	T	0.064	0.18567	0.257	0.19845	0.209622950755	0.20551	0.01772124192807372	0.01727	.	.	0.221751913428	0.01414	T	0.015868	0.13224	T	-0.433271	0.01417	T	-0.691012	0.06330	T	0.108493445086646	0.13266	T	0.441056	0.12198	T	0.042819764	0.06563	0.029437916	0.01282	0.042819764	0.06563	0.029437916	0.01282	-4.822	0.34847	T	.	.	0.135	0.29422	B	.	.	-0.618748	0.01521	0.097	0.46806367894881418	0.03777	0.04151	0.09639	N	AEFDBHCI	0.024599	0.01548	N	-1.28945240228502	0.03801	0.1704631	-1.51213083864641	0.02251	0.1032141	0.999972476149992	0.50053	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.33	-8.66	0.00751	-0.582000	0.05907	.	.	-2.283000	0.00327	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.22:0.2401:0.3314:0.2086	0.980	0.01344	584	0.69381	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1752.44	38	chr1	152314270	.	C	G	1752.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.56;DP=345;ExcessHet=0;FS=0.628;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.61;ReadPosRankSum=-0.48;SOR=0.608	GT:AD:DP:GQ:PL	0/1:68,71:139:99:1763,0,1577	6	0	1	0
chr1	152910506	152910506	C	0	exonic	IVL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	49.09	13	chr1	152910506	.	C	*	49.09	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-0.038;DP=182;ExcessHet=1.383;FS=0;MLEAC=2;MLEAF=0.2;MQ=60;MQRankSum=0;QD=0.62;ReadPosRankSum=-1.413;SOR=0.611	GT:AD:DP:GQ:PL	0/1:3,22:25:54:631,0,54	3	0	2	2
chr1	154205607	154205607	G	A	exonic	C1orf189	.	nonsynonymous SNV	C1orf189:NM_001010979:exon2:c.C65T:p.T22M	.	434	1086	2	0	0	2	0.000919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.000918581790089	0.0002	.	0.0002	9.61e-05	0	0	0	0.0002	0.0011	0.0003	0.0001358	21	154602	rs144170950	0.0002	0.0002	0.0002	0.0002	0.0009	0.0002	0.0002	0.0003	0.0002	8.963e-05	0.0001	0	0.0001	0	0.0009	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	0.0001	0.0002	0.0002	0	0	0.0002	0	0.0002	0	0	0.0003	0.0005	0.0002	0.485	0.08115	T	0.487	0.11656	T	0.0	0.02946	B	0.001	0.04355	B	0.010309	0.29978	N	0.407810	0.997257	0.22732	N	-1.295	0.00719	N	.	.	.	-0.51	0.15986	N	0.274	0.31027	-0.9531	0.40433	T	0.012	0.04795	T	9	0.038104624	0.02207	T	9.19E-4	0.00889	T	0.027	0.05988	.	.	0.0666544352282	0.05500	0.054117604028391136	0.05353	0.150691142447	0.16997	.	.	.	0.030752	0.21724	T	-0.491154	0.00640	T	-0.642961	0.09455	T	0.00678274225774226	0.00076	T	0.39556	0.09932	T	0.018467091	0.00368	0.04256301	0.05096	0.018467091	0.00368	0.04256301	0.05096	-4.303	0.28219	T	.	.	0.052	0.00220	B	.	.	0.529706	0.08986	5.766	0.58337301567450206	0.05970	0.05047	0.10834	N	AEFBCI	0.031132	0.03265	N	-0.911661378043011	0.10568	0.5056464	-0.770439398036013	0.15221	0.7994258	0.0978337971246768	0.16290	0.578255	0.32838	2	0.379588	0.06130	0	0.536957	0.11973	0	0.741806	0.99463	0	.	.	5.25	1.66	0.23081	0.729000	0.25696	2.113000	0.30672	-0.592000	0.04645	0.703000	0.28654	1.000000	0.68203	0.008000	0.08271	0.6519:0.0:0.3481:0.0	5.853	0.17954	73	0.96914	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.001359	0.000000	0.050000	0.000000	0.003049	0.000000	0.07143	1109.46	33	chr1	154205607	.	G	A	1109.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.042;DP=255;ExcessHet=0;FS=1.905;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.22;ReadPosRankSum=0.72;SOR=0.872	GT:AD:DP:GQ:PL	0/1:31,47:78:99:1120,0,635	6	0	1	0
chr1	155250323	155250323	A	G	exonic	FAM189B	.	nonsynonymous SNV	FAM189B:NM_198264:exon6:c.T1175C:p.L392P,FAM189B:NM_001267608:exon8:c.T1409C:p.L470P,FAM189B:NM_006589:exon9:c.T1463C:p.L488P	.	423	1059	38	2	0	42	0.0194444	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	.	0.0018	0.00658946	0.0203	0.0005	0.0063	0	0	0.0110	0	0.0350	0.0029819	461	154602	rs142630415	0.0050	0.0048	0.0040	0.0060	0.0323	0.0049	0.0048	0.0313	0.0309	0.0007	0.0017	0.0243	2.824e-05	0.0010	0.0130	0.0030	0.0057	0.0323	0.0037	0.0037	0.0033	0.0041	0.0326	0.0034	0.0033	0.0285	0.0269	0.0007	0.0275	0.0020	0.0261	0	0.0009	0	0.0031	0.0043	0.0326	0.027	0.46513	D	0.014	0.63918	D	0.997	0.70673	D	0.991	0.79672	D	0.000286	0.46274	D	0.000000	0.999995	0.58761	D	0.975	0.24501	L	3.82	0.03728	T	-0.11	0.15178	N	0.488	0.57433	-0.7789	0.56364	T	0.009	0.03448	T	10	0.0054880977	0.00121	T	.	.	.	0.146	0.38789	.	.	0.242244723065	0.23846	0.7644931943960813	0.76397	3.96447962958	0.99874	0.803799211979	0.82543	D	0.015217	0.12804	T	-0.380399	0.03098	T	-0.294818	0.45268	T	0.0244990517566369	0.01208	T	.	.	.	0.17293428	0.38012	0.25629476	0.51326	0.17293428	0.38011	0.25629476	0.51325	-3.986	0.24802	T	.	.	0.217	0.44643	B	.;.;.	.;.;.	4.672397	0.74688	26.2	0.99891294729488611	0.96513	0.76327	0.37426	D	AEFDBCI	0.499244	0.53301	N	0.323016245965236	0.57332	3.900123	0.341837613117233	0.58017	3.970009	0.999999994130709	0.74766	0.706548	0.73137	0	0.52208	0.09955	0	0.581341	0.30212	0	0.714379	0.83352	0	.	.	4.21	4.21	0.48984	2.412000	0.44263	8.974000	0.78479	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	11.607	0.50292	41	0.97903	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013333	0.000000	0.002924	0.011811	0.000000	0.000000	0.009174	0.034483	0.08333	160.27	25	chr1	155250323	.	A	G	160.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.268;DP=165;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=5.72;ReadPosRankSum=0.127;SOR=0.551	GT:AD:DP:GQ:PL	0/1:20,8:28:99:170,0,510	5	0	1	1
chr1	155776454	155776454	G	C	exonic	GON4L	.	nonsynonymous SNV	GON4L:NM_001282856:exon16:c.C2119G:p.L707V,GON4L:NM_001282858:exon16:c.C2119G:p.L707V,GON4L:NM_001282860:exon16:c.C2119G:p.L707V,GON4L:NM_001282861:exon16:c.C2119G:p.L707V,GON4L:NM_032292:exon16:c.C2119G:p.L707V	.	0	1510	10	2	0	14	0.00461437	.	.	.	2806045	GON4L-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.244	0.0100874149664	0.0028	0.00119808	0.0040	9.612e-05	0.0027	0.0001	0.0039	0.0058	0.0055	0.0021	0.0037839	585	154602	rs146504521	0.0034	0.0035	0.0033	0.0034	0.0035	0.0033	0.0033	0.0032	0.0032	0.0006	0.0034	0.0158	2.519e-05	0.0040	0.0035	0.0033	0.0045	0.0020	0.0028	0.0028	0.0027	0.0028	0.0037	0.0026	0.0025	0.0033	0.0032	0.0004	0	0.0036	0.0107	0	0.0035	0.0102	0.0037	0.0052	0.0017	0.115	0.29688	T	0.002	0.79402	D	0.998	0.77913	D	0.996	0.88582	D	0.000031	0.55875	D	0.074299	0.999017	0.45878	D	2.32	0.66415	M	2.15	0.21666	T	-1.82	0.42763	N	0.606	0.70351	-1.1423	0.01275	T	0.070	0.28740	T	10	0.008015126	0.00182	T	0.010087	0.26213	T	0.244	0.55061	.	.	0.443848435703	0.44006	0.7792985712579287	0.77880	1.72089044569	0.90581	0.521779358387	0.41876	T	0.155469	0.49722	T	-0.383467	0.02962	T	-0.323197	0.42224	T	0.00843386213030176	0.00102	T	0.943306	0.79528	D	0.22679141	0.45367	0.1800077	0.40773	0.22679141	0.45367	0.1800077	0.40772	-10.733	0.78173	D	.	.	0.230	0.50054	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.615462	0.73231	26.0	0.99792468392683908	0.87839	0.97131	0.72871	D	AEFDBHCI	0.520786	0.54550	D	0.581408086996683	0.72016	5.739631	0.581827532717415	0.73636	6.003262	0.999999839549231	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.82	4.82	0.61641	6.534000	0.73741	9.722000	0.81369	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.972000	0.54974	0.0:0.0:1.0:0.0	17.772	0.88404	67	0.97183	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003528	0.005051	0.004076	0.005848	0.000000	0.000000	0.003049	0.000000	0.2143	1584.97	43	chr1	155776454	.	G	C	1584.97	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-0.512;DP=275;ExcessHet=1.1394;FS=0;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=9.27;ReadPosRankSum=0.649;SOR=0.695	GT:AD:DP:GQ:PL	0/1:28,17:45:99:335,0,691	4	0	3	0
chr1	156266023	156266023	G	A	exonic	SMG5	.	nonsynonymous SNV	SMG5:NM_001323615:exon11:c.C1475T:p.T492I,SMG5:NM_001323614:exon12:c.C1613T:p.T538I,SMG5:NM_015327:exon12:c.C1613T:p.T538I,SMG5:NM_001323616:exon13:c.C1415T:p.T472I,SMG5:NM_001323617:exon13:c.C1415T:p.T472I	.	426	1082	13	1	0	15	0.00688389	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.00448310815964	.	0.000798722	0.0007	9.621e-05	0.0002	0.0001	0	0.0001	0.0011	0.0041	0.0005821	90	154602	rs199926708	0.0004	0.0004	0.0002	0.0006	0.0046	0.0004	0.0004	0.0042	0.0041	0	2.236e-05	0	0	0	0.0021	0.0001	0.0004	0.0046	0.0003	0.0003	0.0002	0.0003	0.0052	0.0002	0.0002	0.0036	0.0031	0	0	0	0	0.0004	0	0	0.0002	0	0.0052	0.11	0.29158	T	0.152	0.32249	T	0.0	0.02946	B	0.0	0.01387	B	0.024058	0.26331	N	0.412877	1	0.81001	D	0	0.06538	N	1.51	0.30937	T	-0.55	0.16799	N	0.132	0.12770	-1.0878	0.05908	T	0.024	0.10148	T	10	0.002447158	0.00037	T	0.004483	0.11000	T	0.100	0.28662	.	.	0.24933006939	0.24537	0.13302939099555572	0.13226	0.30959749131	0.33265	0.335560500622	0.15773	T	0.019821	0.15719	T	-0.604954	0.00136	T	-0.641347	0.09571	T	0.025584432604545	0.01350	T	0.642936	0.25461	T	0.06652615	0.14321	0.06867833	0.14374	0.06652615	0.14321	0.06867833	0.14374	-5.204	0.38982	T	.	.	0.080	0.07602	B	.	.	1.122900	0.15086	11.58	0.95060026002545306	0.26087	0.58794	0.30738	D	AEFGBCI	0.345821	0.44084	N	-0.501987002992586	0.22015	1.172604	-0.365006010001851	0.26050	1.436355	0.999999922507454	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.99	4.99	0.65942	2.628000	0.46143	2.551000	0.33264	0.676000	0.76740	0.112000	0.23030	0.090000	0.22521	0.951000	0.49849	0.0:0.0:1.0:0.0	17.010	0.86277	290	0.88477	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.2857	8841.84	33	chr1	156266023	.	G	A	8841.84	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-0.592;DP=575;ExcessHet=0.0921;FS=1.195;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=19.01;ReadPosRankSum=-0.785;SOR=0.583	GT:AD:DP:GQ:PL	0/1:64,74:138:99:1867,0,1596	4	1	2	0
chr1	156581456	156581456	G	A	exonic	TTC24	.	nonsynonymous SNV	TTC24:NM_001105669:exon2:c.G92A:p.R31Q	.	431	1063	27	1	0	29	0.0134571	.	.	.	4020733	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.066	.	.	0.00519169	0.0086	0.0028	0.01	0	0.0130	0.0157	0.0044	0.0024	0.0026196	405	154602	rs192869620	0.0078	0.0074	0.0078	0.0077	0.0348	0.0076	0.0076	0.0309	0.0293	0.0020	0.0085	0.0317	0	0.0091	0.0348	0.0077	0.0100	0.0019	0.0076	0.0076	0.0076	0.0075	0.0144	0.0072	0.0071	0.0129	0.0123	0.0019	0	0.0144	0.0349	0	0.0088	0.0408	0.0087	0.0123	0.0019	0.798	0.03134	T	1.0	0.01155	T	.	.	.	.	.	.	0.694981	0.10143	N	0.820698	1	0.08975	N	-1.295	0.00719	N	-1.06	0.76819	T	0.51	0.02898	N	0.031	0.00770	-1.0441	0.16089	T	0.048	0.20355	T	8	0.003119409	0.00052	T	.	.	.	0.066	0.19193	.	.	0.0846915920261	0.08053	0.046677210505106946	0.04610	0.108947013883	0.12287	0.207851052284	0.00723	T	2.54E-4	0.00056	T	-0.62291	0.00106	T	-0.657156	0.08460	T	0.00621195902304562	0.00069	T	0.359064	0.08235	T	0.026803896	0.01785	0.025499392	0.00596	0.026803896	0.01784	0.025499392	0.00596	-4.317	0.28414	T	.	.	0.059	0.00820	B	.;.	.;.	-0.712542	0.01291	0.069	0.33188039571582323	0.01964	0.00266	0.01451	N	AEFGBI	0.032074	0.03554	N	-1.19098200561426	0.05136	0.2334128	-1.26074243739387	0.04974	0.2359242	0.999930896805824	0.46732	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.23	-1.72	0.07671	-0.333000	0.07938	0.016000	0.13516	-0.659000	0.04360	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.3363:0.1592:0.3497:0.1549	1.432	0.02194	693	0.58582	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.030374	0.026596	0.040698	0.048387	0.083333	0.062500	0.026882	0.032609	0.08333	638.27	27	chr1	156581456	.	G	A	638.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.12;DP=195;ExcessHet=0;FS=11.577;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.27;ReadPosRankSum=-1.368;SOR=2.426	GT:AD:DP:GQ:PL	0/1:28,24:52:99:648,0,613	5	0	1	1
chr1	156583821	156583821	C	T	exonic	TTC24	.	nonsynonymous SNV	TTC24:NM_001105669:exon6:c.C1177T:p.R393W	.	.	.	.	.	.	.	.	.	.	.	2251581	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.252	0.0186372279276	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1319836093	4.886e-06	8.893e-06	5.533e-06	4.227e-06	3.68e-05	2.03e-06	1.31e-06	9.77e-06	4.71e-06	0	0	0	0	0	0	3.64e-06	0	3.68e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000800	0.41772	D	0.000000	0.525561	0.31933	D	2.14	0.59869	M	1.57	0.29342	T	-4.82	0.80851	D	0.794	0.79022	-1.0781	0.07721	T	0.080	0.31675	T	10	0.86861646	0.86117	D	0.018637	0.40769	T	0.252	0.56159	0.676	0.81398	0.346544149963	0.34258	0.44647383435973903	0.44565	0.507220280877	0.48905	0.504885196686	0.39509	T	0.164488	0.50996	T	0.0466089	0.57905	T	-0.170826	0.57368	T	0.997280836105347	0.91194	D	0.885311	0.61048	D	0.32510102	0.55066	0.3270407	0.58605	0.32510102	0.55066	0.3270407	0.58604	-8.611	0.65162	D	.	.	0.310	0.53755	B	.;.	.;.	5.135608	0.85965	28.8	0.99062626838265466	0.51528	0.77826	0.38312	D	AEFDGBHCI	0.339872	0.43688	N	0.507670990090365	0.67541	5.095566	0.503361320275552	0.68216	5.189547	0.999999955066643	0.74766	0.62174	0.39705	0	0.858003	0.99906	0	0.687007	0.62461	0	0.584449	0.35598	0	.	.	5.15	4.17	0.48303	1.848000	0.38949	1.573000	0.27428	0.599000	0.40250	0.980000	0.35271	0.870000	0.27582	0.998000	0.85391	0.2162:0.7838:0.0:0.0	9.966	0.40892	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	.	.	.	.	.	.	.	.	0.07143	1160.49	35	chr1	156583821	.	C	T	1160.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.736;DP=282;ExcessHet=0;FS=1.735;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.34;ReadPosRankSum=2.22;SOR=0.526	GT:AD:DP:GQ:PL	0/1:39,48:87:99:1171,0,832	6	0	1	0
chr1	156912949	156912949	G	A	exonic	PEAR1	.	nonsynonymous SNV	PEAR1:NM_001080471:exon18:c.G2389A:p.G797R,PEAR1:NM_001353682:exon18:c.G2197A:p.G733R,PEAR1:NM_001353683:exon19:c.G2197A:p.G733R	.	409	1109	4	0	0	4	0.00180018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.310	0.0293202151521	0.0003	.	0.0002	9.647e-05	8.642e-05	0	0	0.0003	0	0.0001	0.0002329	36	154602	rs139657197	0.0003	0.0003	0.0003	0.0003	0.0007	0.0003	0.0003	0.0004	0.0004	0.0001	0.0001	3.826e-05	0	0	0.0007	0.0004	8.279e-05	0.0003	0.0001	0.0001	0.0002	0.0001	0.0003	9.744e-05	8.258e-05	0.0001	9.897e-05	9.655e-05	0	0.0003	0	0	0	0	0.0002	0	0	0.484	0.08140	T	0.157	0.31730	T	0.01	0.15535	B	0.003	0.08700	B	0.004304	0.33881	N	0.134369	0.822504	0.28864	N	1.59	0.40313	L	-2.43	0.88689	D	-1.65	0.39503	N	0.511	0.54234	-0.9279	0.44444	T	0.206	0.56512	T	10	0.16530746	0.30901	T	0.02932	0.51849	D	0.310	0.63162	0.419	0.46036	0.527958119908	0.52444	0.6244612048338645	0.62379	0.206308165025	0.23055	0.500867009163	0.38949	T	0.00713	0.06547	T	-0.160829	0.26632	T	-0.16138	0.58228	T	0.032410915941	0.02374	T	0.731327	0.34690	T	0.09026464	0.21117	0.07353862	0.15992	0.09026464	0.21117	0.07353862	0.15991	-7.283	0.56074	T	.	.	0.113	0.22391	B	.;.	.;.	3.087737	0.41560	21.4	0.98273714925570888	0.39786	0.76638	0.37603	D	AEFDBHCI	0.163940	0.29028	N	-0.537949618883284	0.20864	1.103026	-0.390143032365924	0.25288	1.389865	0.999999952777013	0.74766	0.722319	0.85440	0	0.563428	0.19063	0	0.596491	0.31596	0	0.735409	0.98432	0	.	.	5.23	4.32	0.50899	4.154000	0.57902	6.635000	0.56164	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.041000	0.14368	0.0894:0.1705:0.7402:0.0	7.274	0.25445	401	0.82673	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	801.83	36	chr1	156912949	.	G	A	801.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.58;DP=233;ExcessHet=0;FS=1.006;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.07;ReadPosRankSum=-1.491;SOR=0.892	GT:AD:DP:GQ:PL	0/1:26,31:57:99:812,0,579	6	0	1	0
chr1	157125106	157125106	C	T	exonic	ETV3	.	nonsynonymous SNV	ETV3:NM_001145312:exon5:c.G1274A:p.R425H	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.0037100597417	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs540027756	9.335e-06	8.893e-06	8.492e-06	1.02e-05	0.0002	5.21e-06	4.01e-06	1.056e-05	3.95e-06	6.376e-05	0	0	0	0	0.0002	7.439e-06	0	2.565e-05	1.972e-05	1.97e-05	2.57e-05	1.345e-05	6.545e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	6.545e-05	0	0	0	0	2.94e-05	0	0	0.173	0.22573	T	0.164	0.31026	T	0.004	0.12183	B	0.001	0.04355	B	0.331982	0.14098	N	0.654779	0.615452	0.30824	N	0.55	0.14455	N	2.49	0.14531	T	-0.76	0.21215	N	0.068	0.04072	-0.9794	0.35139	T	0.006	0.01981	T	10	0.04370433	0.03248	T	0.00371	0.08589	T	0.053	0.14996	0.089	0.00982	0.147330786459	0.14319	0.21531655490691842	0.21447	1.39536593236	0.85076	0.233375579119	0.02227	T	0.111998	0.42793	T	-0.439392	0.01304	T	-0.632264	0.10244	T	0.100771493155598	0.12442	T	0.759724	0.38410	T	0.028028874	0.02081	0.027796576	0.00961	0.028028874	0.02080	0.027796576	0.00961	-4.455	0.30296	T	.	.	0.101	0.17700	B	.	.	2.977820	0.39707	21.0	0.98290937661168543	0.39945	0.75389	0.36909	D	AEFDGBHCI	0.105397	0.21061	N	-0.436101415053912	0.24213	1.305872	-0.231144603160781	0.30426	1.713053	0.999998402067022	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.24	3.32	0.37134	1.637000	0.36769	3.953000	0.40689	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.8931:0.0:0.1069	9.194	0.36379	781	0.47532	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	898.46	33	chr1	157125106	.	C	T	898.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.279;DP=255;ExcessHet=0;FS=0.912;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=-0.712;SOR=0.556	GT:AD:DP:GQ:PL	0/1:33,37:70:99:909,0,822	6	0	1	0
chr1	159782256	159782256	A	T	exonic	DUSP23	.	nonsynonymous SNV	DUSP23:NM_001319658:exon2:c.A371T:p.E124V,DUSP23:NM_001319659:exon3:c.A371T:p.E124V,DUSP23:NM_017823:exon3:c.A371T:p.E124V	.	421	1086	14	1	0	16	0.00731261	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.541	0.140856028591	0.0050	0.00219649	0.0052	0.0005	0.0012	0	0.0020	0.0079	0.0044	0.0041	0.0052069	805	154602	rs11544443	0.0061	0.0061	0.0062	0.0061	0.0070	0.0060	0.0060	0.0068	0.0068	0.0009	0.0018	0.0075	2.519e-05	0.0021	0.0023	0.0070	0.0060	0.0049	0.0040	0.0040	0.0043	0.0036	0.0066	0.0037	0.0036	0.0061	0.0059	0.0009	0	0.0018	0.0081	0	0.0014	0	0.0066	0.0052	0.0065	0.148	0.24857	T	0.056	0.46632	T	0.964	0.55854	D	0.756	0.56253	P	0.000113	0.50451	D	0.139150	0.99992	0.51308	D	2.565	0.75005	M	-1.89	0.84557	D	-4.86	0.81187	D	0.66	0.67564	-0.1009	0.80078	T	0.518	0.81966	D	10	0.015188992	0.00319	T	0.140856	0.82329	D	0.541	0.80842	.	.	0.925407252809	0.92464	0.7996346021257574	0.79917	0.491495775432	0.47841	0.668933808804	0.62685	T	0.428778	0.77780	T	-0.212748	0.18994	T	-0.0718355	0.65496	T	0.0297476654947831	0.01950	T	0.945705	0.79334	D	0.67713505	0.76815	0.49208406	0.70619	0.67713505	0.76816	0.49208406	0.70620	-8.526	0.64601	D	.	.	0.385	0.58697	A	.;.;.	.;.;.	4.859542	0.79503	27.1	0.98633325170900865	0.43947	0.92422	0.55675	D	AEFDGBCI	0.921554	0.89521	D	0.464628535523727	0.65036	4.772421	0.441524274570444	0.64176	4.666679	0.999999982191653	0.74766	0.706298	0.61202	0	0.659464	0.62310	0	0.709663	0.75317	0	0.638787	0.57140	0	.	.	4.32	4.32	0.50899	6.992000	0.76004	8.004000	0.76162	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	1.0:0.0:0.0:0.0	11.502	0.49693	929	0.16858	Dual specificity phosphatase, catalytic domain|Tyrosine specific protein phosphatases domain|Dual specificity protein phosphatase domain|Protein-tyrosine phosphatase, catalytic;Dual specificity phosphatase, catalytic domain|Tyrosine specific protein phosphatases domain|Dual specificity protein phosphatase domain|Protein-tyrosine phosphatase, catalytic;Dual specificity phosphatase, catalytic domain|Tyrosine specific protein phosphatases domain|Dual specificity protein phosphatase domain|Protein-tyrosine phosphatase, catalytic	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.001359	0.002924	0.000000	0.017241	0.006098	0.000000	0.2143	5473.72	35	chr1	159782256	.	A	T	5473.72	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-1.219;DP=436;ExcessHet=0;FS=1.021;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=19.62;ReadPosRankSum=-0.795;SOR=0.769	GT:AD:DP:GQ:PL	0/1:77,68:145:99:1559,0,1881	5	1	1	0
chr1	169380585	169380585	G	A	exonic	BLZF1	.	nonsynonymous SNV	BLZF1:NM_001320973:exon5:c.G773A:p.R258H,BLZF1:NM_003666:exon5:c.G773A:p.R258H	.	431	1088	3	0	0	3	0.00137678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	.	0.0093	0.00678914	0.0033	0.0199	0.0019	0.0003	0	0.0024	0.0044	0.0002	0.0031047	480	154602	rs113548186	0.0015	0.0015	0.0015	0.0015	0.0197	0.0014	0.0014	0.0185	0.0180	0.0197	0.0023	0.0277	0.0002	0	0.0056	0.0004	0.0038	0.0004	0.0068	0.0068	0.0069	0.0067	0.0194	0.0064	0.0063	0.0183	0.0179	0.0194	0	0.0026	0.0346	0.0004	0	0.0068	0.0007	0.0047	0.0004	0.008	0.58626	D	0.018	0.59732	D	0.998	0.73220	D	0.855	0.60933	P	0.001317	0.39449	N	0.291232	0.999937	0.51612	D	2.33	0.66821	M	1.24	0.36691	T	-3.16	0.64246	D	0.646	0.65758	-0.9289	0.44299	T	0.142	0.46257	T	9	0.007812947	0.00177	T	.	.	.	0.172	0.43662	.	.	0.427829143865	0.42401	0.3679452539685849	0.36708	0.150431908582	0.16971	0.410969048738	0.26591	T	0.082363	0.36811	T	-0.458671	0.01002	T	-0.41603	0.31532	T	0.0249614407608216	0.01268	T	0.955004	0.82846	D	0.16455896	0.36671	0.13339183	0.31987	0.16455896	0.36671	0.13339183	0.31986	-5.885	0.45307	T	.	.	0.126	0.27252	B	.;.	.;.	4.965712	0.82135	27.7	0.99954727912073627	0.99969	0.96326	0.68592	D	AEFGBI	0.643305	0.61996	D	0.701982641441777	0.79761	7.146722	0.707025302671433	0.82914	7.886153	0.999898639773671	0.45129	0.706548	0.73137	0	0.653731	0.59785	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.52	5.52	0.82153	5.356000	0.65817	8.176000	0.76768	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	19.437	0.94791	492	0.76569	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.014946	0.008772	0.000000	0.008621	0.012195	0.000000	0.07143	1029.44	34	chr1	169380585	.	G	A	1029.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.584;DP=275;ExcessHet=0;FS=0.769;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.72;ReadPosRankSum=0.14;SOR=0.566	GT:AD:DP:GQ:PL	0/1:52,44:96:99:1040,0,1262	6	0	1	0
chr1	171110797	171110797	G	A	splicing	FMO3	NM_001319173:exon7:c.568-1G>A;NM_001002294:exon6:c.628-1G>A;NM_006894:exon6:c.628-1G>A;NM_001319174:exon5:c.439-1G>A	.	.	Trimethylaminuria, Autosomal recessive	.	.	.	.	.	.	.	1.0000	0.946	YES	2923944	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	8.245e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs779056077	4.105e-06	4.104e-06	4.084e-06	4.126e-06	5.397e-06	1.48e-06	9.7e-07	1.94e-06	1.28e-06	0	0	0	0	0	0	5.397e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248309	0.78443	D	0.134388	0.79178	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.873963	0.93905	33	0.99311456576689727	0.59017	0.95531	0.65092	D	AEFBI	.	.	.	0.942690804425647	0.93687	12.20858	0.737585071532207	0.85225	8.518031	0.999999794574893	0.74766	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.87932	0.54673	4.99	4.08	0.46880	8.821000	0.91637	11.534000	0.93101	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.824000	0.38829	0.0785:0.0:0.9215:0.0	12.979	0.57957	713	0.56348	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.07143	790.45	35	chr1	171110797	.	G	A	790.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.63;DP=240;ExcessHet=0;FS=2.254;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.98;ReadPosRankSum=-1.051;SOR=1.013	GT:AD:DP:GQ:PL	0/1:38,28:66:99:801,0,1094	6	0	1	0
chr1	173207098	173207098	C	T	exonic	TNFSF4	.	nonsynonymous SNV	TNFSF4:NM_003326:exon1:c.G79A:p.V27M	.	426	1070	24	2	0	28	0.0129151	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.192	.	0.0002	0.00199681	0.0024	9.612e-05	0.0006	0	0	0.0004	0.0033	0.0153	0.0020181	312	154602	rs199835957	0.0012	0.0012	0.0007	0.0016	0.0149	0.0011	0.0011	0.0142	0.0140	0	0.0009	0.0012	5.039e-05	0	0.0030	0.0002	0.0015	0.0149	0.0007	0.0007	0.0004	0.0010	0.0139	0.0006	0.0006	0.0112	0.0103	4.813e-05	0	0.0011	0.0006	0.0002	0	0	0.0002	0.0009	0.0139	0.004	0.65419	D	0.008	0.67890	D	0.999	0.77913	D	0.927	0.66185	D	0.056225	0.22577	N	0.379769	0.762336	0.34053	D	1.955	0.52871	M	.	.	.	-2.73	0.58085	D	0.508	0.53972	-0.5031	0.68538	T	0.261	0.63230	T	9	0.009205133	0.00208	T	.	.	.	0.192	0.47115	.	.	0.347659731818	0.34379	0.6909411628972086	0.69034	0.837915334682	0.67891	0.408709019423	0.26278	T	0.819008	0.95554	D	-0.315653	0.07260	T	-0.213866	0.53325	T	0.0776720288139792	0.09686	T	0.761924	0.38711	T	0.15038362	0.34238	0.21194471	0.45643	0.15038362	0.34238	0.21194471	0.45642	-5.079	0.37685	T	.	.	0.333	0.55452	B	.	.	3.436727	0.47789	22.5	0.9987778635413902	0.95410	0.76223	0.37367	D	AEFDGBCIJ	0.238707	0.36079	N	0.545485646877872	0.69808	5.409865	0.48935201874849	0.67284	5.063272	0.999999999772002	0.74766	0.516011	0.20929	0	0.52208	0.09955	0	0.577349	0.28860	0	0.56214	0.19341	0	.	.	5.67	4.75	0.59954	1.821000	0.38680	2.123000	0.30732	0.599000	0.40250	1.000000	0.71638	0.994000	0.32194	0.341000	0.25455	0.0:0.9119:0.0:0.0881	10.932	0.46434	834	0.38640	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.001359	0.000000	0.000000	0.008621	0.006098	0.007576	0.07143	2002.49	37	chr1	173207098	.	C	T	2002.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.455;DP=340;ExcessHet=0;FS=2.001;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13;ReadPosRankSum=0.73;SOR=0.544	GT:AD:DP:GQ:PL	0/1:72,82:154:99:2013,0,1667	6	0	1	0
chr1	175160810	175160810	C	0	exonic	KIAA0040	.	.	.	.	430	141	484	211	256	1162	0.762626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	4024.52	38	chr1	175160810	.	C	*	4024.52	.	AC=3;AF=0.214;AN=14;BaseQRankSum=1.5;DP=319;ExcessHet=0.0509;FS=3.523;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=15.66;ReadPosRankSum=2.04;SOR=0.468	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,30:62:99:1|0:175160809_TC_T:2463,1141,1247:175160809	4	0	3	0
chr1	178521252	178521252	A	G	exonic	TEX35	.	nonsynonymous SNV	TEX35:NM_001170722:exon8:c.A598G:p.N200D,TEX35:NM_001170723:exon8:c.A574G:p.N192D,TEX35:NM_001170724:exon8:c.A574G:p.N192D,TEX35:NM_032126:exon8:c.A574G:p.N192D	.	424	1087	10	1	0	12	0.00548948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.0350489334889	0.0019	0.000998403	0.0029	0.0002	0.0052	0.0001	0.0003	0.0036	0.0099	0.0023	0.0027231	421	154602	rs35619308	0.0025	0.0025	0.0024	0.0025	0.0054	0.0024	0.0024	0.0039	0.0034	0.0002	0.0037	0.0170	2.519e-05	0.0011	0.0054	0.0022	0.0034	0.0023	0.0024	0.0024	0.0025	0.0023	0.0024	0.0022	0.0021	0.0021	0.0019	0.0004	0.0626	0.0024	0.0196	0.0002	0.0010	0	0.0024	0.0038	0.0017	0.014	0.53172	D	0.049	0.48336	D	0.557	0.38282	P	0.117	0.35118	B	0.019846	0.27167	N	0.264306	1	0.08975	N	0.895	0.22405	L	2.16	0.19166	T	-3.27	0.65512	D	0.484	0.67736	-0.9711	0.36967	T	0.106	0.38709	T	10	0.0051191747	0.00111	T	0.035049	0.56085	D	0.041	0.10877	.	.	0.328222422547	0.32431	0.05186873901639505	0.05128	0.45569561793	0.45240	0.376475811005	0.21756	T	0.018851	0.15125	T	-0.591496	0.00164	T	-0.624525	0.10833	T	0.0479193392864445	0.05130	T	0.686431	0.29515	T	0.20776632	0.42993	0.17991318	0.40757	0.20776632	0.42992	0.17991318	0.40756	-3.75	0.21674	T	.	.	0.159	0.39999	B	.;.;.	.;.;.	3.830527	0.55368	23.6	0.88047011661222241	0.17676	0.32484	0.24597	N	AEFBI	0.095661	0.19325	N	-0.0685080950234173	0.38780	2.276583	-0.0925411970727767	0.35698	2.068348	0.139201849582681	0.17241	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.96	1.13	0.19758	1.595000	0.36318	7.553000	0.60314	0.691000	0.84096	0.975000	0.34726	1.000000	0.68203	0.951000	0.49849	0.4768:0.3528:0.0:0.1703	5.301	0.15087	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	0.004028	0.005051	0.004076	0.002924	0.000000	0.000000	0.006098	0.003788	0.07143	1996.44	33	chr1	178521252	.	A	G	1996.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.579;DP=339;ExcessHet=0;FS=1.978;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.56;ReadPosRankSum=-0.104;SOR=0.547	GT:AD:DP:GQ:PL	0/1:71,88:159:99:2007,0,1764	6	0	1	0
chr1	180014239	180014239	G	C	exonic	CEP350	.	nonsynonymous SNV	CEP350:NM_014810:exon10:c.G1786C:p.V596L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.565	0.138735317183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	7.525e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.131	0.34596	T	0.997	0.70673	D	0.933	0.66815	D	0.000494	0.43931	D	0.000000	1	0.81001	D	2.515	0.73286	M	-2.57	0.89692	D	-1.93	0.44852	N	0.804	0.79986	0.672	0.92822	D	0.818	0.93855	D	9	0.7784072	0.77650	D	0.138735	0.82122	D	0.565	0.82232	0.251	0.18912	0.933423527662	0.93273	0.2305698346646848	0.22971	0.406491481352	0.41524	0.817128300667	0.84587	D	0.124088	0.44888	T	0.411747	0.90578	D	0.353669	0.90461	D	0.993486225605011	0.84301	D	0.907609	0.67324	D	0.52510554	0.68551	0.5940318	0.76435	0.52510554	0.68552	0.5940318	0.76436	-8.814	0.66492	D	.	.	0.957	0.87648	P	.	.	4.238175	0.64232	24.7	0.99861407413495462	0.94002	0.99292	0.94053	D	AEFGBI	0.815095	0.73715	D	0.861085333927434	0.89729	10.09338	0.856523218067628	0.93392	12.01194	0.999999999986871	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.6	5.6	0.84997	9.516000	0.97042	11.877000	0.98731	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.577	0.95445	185	0.92771	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	75.24	29	chr1	180014239	.	G	C	75.24	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-1.859;DP=394;ExcessHet=0;FS=284.634;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=1;ReadPosRankSum=1.31;SOR=7.195	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:50,25:85:84:.:.:84,0,893:.	4	0	1	2
chr1	202729148	202729148	C	T	exonic	KDM5B	.	nonsynonymous SNV	KDM5B:NM_001347591:exon26:c.G4388A:p.S1463N,KDM5B:NM_006618:exon27:c.G4523A:p.S1508N,KDM5B:NM_001314042:exon28:c.G4631A:p.S1544N	.	433	1087	2	0	0	2	0.000919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.305	0.0139327758051	.	.	0.0003	0	0	0	0	0	0	0.0023	0.0002458	38	154602	rs759557715	0.0001	0.0001	6.534e-05	0.0002	0.0023	0.0001	0.0001	0.0021	0.0020	0	2.237e-05	0	2.519e-05	0	0.0002	0	6.623e-05	0.0023	7.22e-05	7.217e-05	2.569e-05	0.0001	0.0023	3.967e-05	3.124e-05	0.0013	0.0010	0	0	0	0	0	0	0	0	0	0.0023	0.107	0.29823	T	0.072	0.45110	T	0.007	0.16609	B	0.007	0.14941	B	0.000000	0.84330	D	0.035208	0.999945	0.53665	D	0.59	0.15444	N	-1.88	0.84487	D	-0.52	0.16187	N	0.45	0.48780	-0.4937	0.68876	T	0.393	0.74677	T	10	0.043435127	0.03192	T	0.013933	0.33698	T	0.305	0.62620	0.399	0.42753	0.412064437402	0.40821	0.2708919055594575	0.27002	0.221580012741	0.24695	0.721313118935	0.70239	T	0.027294	0.20020	T	-0.37356	0.03418	T	-0.315227	0.43097	T	0.0716355487032685	0.08878	T	0.806319	0.45525	T	0.15349941	0.34790	0.1494118	0.35280	0.17509925	0.38349	0.15987884	0.37264	-5.152	0.38450	T	.	.	0.112	0.33800	B	.;.;.;.;.	.;.;.;.;.	3.657736	0.51945	23.2	0.98757090067667086	0.45755	0.98432	0.82716	D	AEFDBI	0.658708	0.62988	D	0.049252744456416	0.44107	2.69092	0.284670802803803	0.54643	3.628791	0.999999881313519	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.95	5.95	0.96415	5.739000	0.68261	7.632000	0.62779	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.9294:0.0:0.0706	13.569	0.61302	411	0.82069	Zinc finger, PHD-finger|Zinc finger, PHD-finger|Zinc finger, PHD-type;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	2179.92	34	chr1	202729148	.	C	T	2179.92	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.9;DP=359;ExcessHet=0.4139;FS=6.795;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=10.14;ReadPosRankSum=0.73;SOR=1.117	GT:AD:DP:GQ:PL	0/1:69,36:105:99:818,0,1655	4	0	2	1
chr1	206203947	206203947	T	C	exonic	FAM72A	.	nonsynonymous SNV	FAM72A:NM_001317901:exon1:c.A49G:p.R17G,FAM72A:NM_001385243:exon2:c.A49G:p.R17G,FAM72A:NM_001385244:exon2:c.A49G:p.R17G,FAM72A:NM_001385245:exon2:c.A49G:p.R17G	.	913	596	6	7	0	20	0.0165017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs782683246	0.0082	0.0078	0.0076	0.0089	0.0296	0.0081	0.0080	0.0252	0.0236	0.0012	0.0059	0.0119	0.0236	0.0149	0.0296	0.0063	0.0092	0.0239	0.0065	0.0067	0.0061	0.0071	0.0190	0.0062	0.0061	0.0157	0.0144	0.0012	0	0.0052	0.0095	0.0132	0.0139	0.0350	0.0074	0.0071	0.0190	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.23	0.36872	T	-0.06	0.07882	N	0.288	0.32591	.	.	.	.	.	.	.	0.00577268	0.00129	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.524448	0.17180	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.42706	B	.;.	.;.	0.716609	0.10854	7.533	.	.	.	.	.	.	0.053696	0.09698	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.236000	0.09019	-1.473000	0.05360	0.490000	0.22344	0.000000	0.06391	0.000000	0.08366	0.018000	0.11154	.	.	.	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	.	.	.	.	.	.	.	.	0.25	112.38	3	chr1	206203947	.	T	C	112.38	.	AC=3;AF=0.25;AN=12;BaseQRankSum=0.967;DP=39;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.25;MQ=29.01;MQRankSum=0.431;QD=12.49;ReadPosRankSum=0;SOR=0.223	GT:AD:DP:GQ:PL	0/1:4,2:6:52:52,0,112	4	1	1	1
chr1	209626899	209626899	C	T	exonic	LAMB3	.	nonsynonymous SNV	LAMB3:NM_001017402:exon12:c.G1565A:p.R522Q,LAMB3:NM_000228:exon13:c.G1565A:p.R522Q,LAMB3:NM_001127641:exon13:c.G1565A:p.R522Q	Amelogenesis imperfecta, type IA, Autosomal dominant;Epidermolysis bullosa, junctional, Herlitz type, Autosomal recessive;Epidermolysis bullosa, junctional, non-Herlitz type, Autosomal recessive	1	1520	1	0	0	1	0.000328839	.	.	.	278833	Junctional_epidermolysis_bullosa_gravis_of_Herlitz|Inborn_genetic_diseases|Junctional_epidermolysis_bullosa|Junctional_epidermolysis_bullosa,_non-Herlitz_type	MONDO:MONDO:0009182,MedGen:C0079683,OMIM:226700,Orphanet:79404|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0017612,MedGen:C0079301,OMIM:PS226650,Orphanet:305|MONDO:MONDO:0009180,MedGen:C0268374,OMIM:226650,Orphanet:251393,Orphanet:79402,Orphanet:79405,Orphanet:89840	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.085	0.046699987683	7.7e-05	0.000199681	0.0002	0	0.0004	0.0004	0	7.732e-05	0	0.0003	0.0001423	22	154602	rs144249951	0.0001	0.0001	9.939e-05	0.0001	0.0006	9.403e-05	8.885e-05	0.0005	0.0005	5.975e-05	0.0006	0	0.0001	0	0	5.576e-05	0.0001	0.0006	0.0001	0.0001	0.0001	0.0001	0.0007	7.084e-05	5.742e-05	0.0004	0.0003	0	0	0.0007	0	0.0002	0	0	7.349e-05	0	0	0.164	0.23360	T	0.096	0.39340	T	0.2	0.29645	B	0.076	0.28435	B	0.057015	0.22514	N	0.489478	1	0.08975	N	0.965	0.23975	L	0.13	0.60973	T	-0.56	0.17003	N	0.106	0.09207	-1.0157	0.25110	T	0.115	0.40875	T	10	0.025185257	0.00721	T	0.047	0.62578	D	0.085	0.24743	.	.	0.639313143913	0.63634	0.27207698570123195	0.27120	0.177302637107	0.19951	0.267791390419	0.05855	T	0.077422	0.35650	T	-0.475728	0.00784	T	-0.555828	0.16771	T	0.0189244678294178	0.00602	T	0.710029	0.32075	T	0.11373121	0.26858	0.08497311	0.19586	0.11373121	0.26857	0.08497311	0.19586	-6.684	0.51690	T	0.26412771722732586	0.35625	0.065	0.01934	B	.;.;.	.;.;.	1.079845	0.14625	11.19	0.99478388710232746	0.66741	0.08042	0.14018	N	AEFDBCI	0.102342	0.20533	N	-0.896454799405237	0.10926	0.5246086	-0.943660014824361	0.11070	0.5617463	0.999998902488437	0.74766	0.615465	0.37627	0	0.547309	0.14657	0	0.565031	0.19037	0	0.655142	0.61905	0	.	.	5.7	-0.461	0.11564	-0.053000	0.11802	-0.485000	0.08896	0.596000	0.33519	0.000000	0.06391	0.000000	0.08366	0.081000	0.17303	0.0:0.6147:0.0:0.3853	10.374	0.43256	947	0.11584	Laminin EGF domain|Laminin EGF domain|Laminin EGF domain;Laminin EGF domain|Laminin EGF domain|Laminin EGF domain;Laminin EGF domain|Laminin EGF domain|Laminin EGF domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1694.44	35	chr1	209626899	.	C	T	1694.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.02;DP=390;ExcessHet=0;FS=1.294;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.53;ReadPosRankSum=0.833;SOR=0.729	GT:AD:DP:GQ:PL	0/1:74,73:147:99:1705,0,1543	6	0	1	0
chr1	209775710	209775710	C	T	exonic	TRAF3IP3	.	nonsynonymous SNV	TRAF3IP3:NM_001287754:exon4:c.C235T:p.L79F,TRAF3IP3:NM_001320143:exon11:c.C1027T:p.L343F,TRAF3IP3:NM_001320144:exon11:c.C967T:p.L323F,TRAF3IP3:NM_025228:exon11:c.C1027T:p.L343F	.	380	1130	12	0	0	12	0.00528169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.339	.	0.0048	0.00439297	0.0040	0.0010	0.0045	0	0.0006	0.0061	0.0022	0.0005	0.0040491	626	154602	rs41307652	0.0050	0.0050	0.0050	0.0050	0.0059	0.0049	0.0049	0.0058	0.0057	0.0009	0.0052	0.0031	0	0.0006	0.0029	0.0059	0.0050	0.0005	0.0039	0.0039	0.0041	0.0036	0.0076	0.0036	0.0035	0.0065	0.0060	0.0009	0.0011	0.0076	0.0035	0	0.0003	0	0.0058	0.0090	0.0006	0.054	0.38633	T	0.162	0.63109	T	0.936	0.52359	P	0.609	0.51053	P	0.000005	0.62929	D	0.000000	0.79027	0.36624	D	2.255	0.64187	M	-1.39	0.83241	T	-1.88	0.46842	N	0.23	0.28498	0.078	0.83778	D	0.454	0.78703	T	10	0.006277114	0.00142	T	.	.	.	0.339	0.66106	.	.	0.842767848883	0.84126	0.16174860794809576	0.16095	0.225302997667	0.25073	0.505809545517	0.39637	T	0.030478	0.28058	T	-0.27487	0.11219	T	-0.164997	0.57900	T	0.0171851992259915	0.00462	T	0.794321	0.50060	T	0.12734988	0.29803	0.11810117	0.28508	0.12734988	0.29803	0.11810117	0.28508	-3.567	0.17381	T	.	.	0.165	0.47503	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.763646	0.22429	15.62	0.9963881840598402	0.76510	0.61101	0.31386	D	AEFDGBCI	0.183072	0.31040	N	0.281987145407786	0.55235	3.687721	0.305944561205827	0.55886	3.752	0.999999998942335	0.74766	0.645754	0.44609	0	0.696144	0.67643	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.78	4.78	0.60666	1.280000	0.32807	1.346000	0.25772	0.599000	0.40250	0.955000	0.33325	0.774000	0.26724	0.948000	0.49324	0.0:0.9068:0.0:0.0932	10.11	0.41730	866	0.32446	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001515	0.000000	0.002725	0.000000	0.000000	0.000000	0.006135	0.000000	0.1429	2299.29	32	chr1	209775710	.	C	T	2299.29	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.344;DP=295;ExcessHet=0.3476;FS=0.613;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=15.23;ReadPosRankSum=0.989;SOR=0.797	GT:AD:DP:GQ:PL	0/1:34,45:79:99:1154,0,811	5	0	2	0
chr1	210241790	210241790	G	A	exonic	SERTAD4	.	nonsynonymous SNV	SERTAD4:NM_001375428:exon4:c.G524A:p.R175Q,SERTAD4:NM_019605:exon4:c.G524A:p.R175Q	.	406	1101	14	1	0	16	0.00721371	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.534	.	0.0015	0.00299521	0.0028	0.0007	0.0015	0	0.0006	0.0025	0.0044	0.0080	0.0026067	403	154602	rs138093906	0.0023	0.0023	0.0021	0.0025	0.0139	0.0023	0.0022	0.0114	0.0105	0.0005	0.0022	0.0058	2.519e-05	0.0007	0.0139	0.0020	0.0027	0.0079	0.0022	0.0022	0.0019	0.0025	0.0081	0.0020	0.0019	0.0061	0.0054	0.0003	0.0351	0.0062	0.0072	0	0.0002	0.0068	0.0017	0.0028	0.0081	0.0	0.91255	D	0.011	0.64786	D	1.0	0.90584	D	0.988	0.77976	D	0.000011	0.62929	D	0.000000	0.998528	0.45035	D	1.1	0.28011	L	.	.	.	-1.8	0.42384	N	0.789	0.78546	-0.3561	0.73377	T	0.349	0.71352	T	9	0.008887917	0.00201	T	.	.	.	0.534	0.80426	.	.	0.275349458131	0.27150	0.7133482058669399	0.71277	0.499410879327	0.48384	0.553123831749	0.46299	T	0.123561	0.44801	T	0.0293313	0.55634	T	0.273781	0.86783	D	0.0358935744080481	0.02962	T	.	.	.	0.5058693	0.67438	0.4796554	0.69862	0.5058693	0.67439	0.4796554	0.69862	-5.214	0.39084	T	.	.	0.655	0.71124	P	.	.	5.336649	0.89551	30	0.99950196937596725	0.99938	0.99091	0.91093	D	AEFBI	0.843061	0.76012	D	0.731939406711602	0.81726	7.590215	0.762702796108757	0.87103	9.107962	0.999999981136599	0.74766	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.221012	0.04332	2	.	.	5.55	5.55	0.83298	7.874000	0.85582	11.927000	0.99878	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.861	0.96782	699	0.57969	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011078	0.000000	0.013587	0.011696	0.000000	0.017241	0.000000	0.011364	0.1429	4065.24	37	chr1	210241790	.	G	A	4065.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.19;DP=485;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=12.91;ReadPosRankSum=-0.63;SOR=0.679	GT:AD:DP:GQ:PL	0/1:50,83:133:99:2274,0,1136	5	0	2	0
chr1	220796753	220796753	T	A	exonic	MTARC1	.	nonsynonymous SNV	MTARC1:NM_022746:exon3:c.T560A:p.M187K	.	431	1082	8	0	1	9	0.00368324	.	.	.	718669	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.150	.	0.0079	0.00219649	0.0088	0.0020	0.0015	0	0.0124	0.0132	0.0049	0.0039	0.008344	1290	154602	rs17850677	0.0095	0.0095	0.0097	0.0093	0.0109	0.0094	0.0093	0.0108	0.0107	0.0014	0.0019	0.0046	0	0.0098	0.0021	0.0109	0.0092	0.0045	0.0062	0.0062	0.0066	0.0058	0.0104	0.0058	0.0057	0.0097	0.0095	0.0018	0	0.0038	0.0046	0	0.0070	0	0.0104	0.0028	0.0015	0.01	0.56456	D	0.134	0.34241	T	0.978	0.58756	D	0.71	0.54502	P	0.000015	0.62929	D	0.068220	0.999951	0.52396	D	2.39	0.68882	M	2.29	0.17113	T	-5.59	0.86527	D	0.722	0.72388	-1.0749	0.08369	T	0.063	0.26314	T	10	0.0072243214	0.00164	T	.	.	.	0.150	0.39571	.	.	0.526943034955	0.52341	0.7296297274549781	0.72907	0.299837654021	0.32349	0.510270059109	0.40261	T	0.087097	0.37869	T	-0.445097	0.01207	T	-0.401739	0.33181	T	0.0621241605659562	0.07499	T	0.842916	0.51943	T	0.64748734	0.75230	0.61742514	0.77724	0.64748734	0.75231	0.61742514	0.77725	-5.242	0.39366	T	.	.	0.455	0.62474	A	.	.	3.958772	0.58049	23.9	0.98413991910079046	0.41212	0.96031	0.67221	D	AEFDBHCI	0.901015	0.84722	D	0.473889084548162	0.65572	4.839175	0.415118658830546	0.62505	4.467109	0.929143261230913	0.26957	0.743674	0.98306	0	0.59043	0.45803	0	0.630245	0.45026	0	0.567892	0.33627	0	.	.	4.82	3.7	0.41607	4.943000	0.63255	5.638000	0.49139	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.745000	0.35611	0.0:0.0875:0.0:0.9125	8.787	0.33987	550	0.72197	Molybdenum cofactor sulfurase, C-terminal	RP11-295M18.6|MARC1	Artery_Tibial|Heart_Left_Ventricle	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.07143	3129.44	39	chr1	220796753	.	T	A	3129.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.23;DP=425;ExcessHet=0;FS=1.042;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.22;ReadPosRankSum=0.764;SOR=0.612	GT:AD:DP:GQ:PL	0/1:97,123:220:99:3140,0,2291	6	0	1	0
chr1	225152708	225152708	G	A	exonic	DNAH14	.	nonsynonymous SNV	DNAH14:NM_001367479:exon33:c.G5021A:p.G1674E	.	430	1073	19	0	0	19	0.00877598	.	.	.	2816094	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.043	.	0.0064	0.00599042	0.0082	0.0009	0	0	0.0086	0.0094	0.0125	0.0096	0.0026649	412	154602	rs17578819	0.0088	0.0085	0.0087	0.0090	0.0094	0.0087	0.0087	0.0093	0.0092	0.0012	0.0052	0.0089	2.804e-05	0.0109	0.0088	0.0094	0.0078	0.0090	0.0072	0.0072	0.0072	0.0072	0.0131	0.0069	0.0067	0.0105	0.0096	0.0015	0.0022	0.0057	0.0107	0.0002	0.0115	0.0136	0.0104	0.0080	0.0131	0.008	0.58626	D	0.025	0.67890	D	0.07	0.23866	B	0.033	0.22329	B	0.089842	0.20406	U	0.277746	0.997461	0.22648	N	0.345	0.11182	N	3.03	0.08898	T	0.59	0.02638	N	0.23	0.33030	-0.9702	0.37157	T	0.010	0.03627	T	10	0.0049212873	0.00105	T	.	.	.	0.043	0.11576	.	.	0.265929055128	0.26215	.	.	.	.	0.26245906949	0.05187	T	0.019432	0.15482	T	-0.550002	0.00292	T	-0.547221	0.17593	T	0.0226230662212863	0.00979	T	0.910909	0.68443	D	0.100617066	0.23759	0.1736091	0.39699	0.100617066	0.23759	0.1736091	0.39698	-5.505	0.43738	T	.	.	0.124	0.25946	B	.;.;.	.;.;.	1.812490	0.23033	15.86	0.98310993636074528	0.40144	0.66843	0.33220	D	AEFBI	0.198761	0.32560	N	-0.473422088152864	0.22955	1.229275	-0.342050645116875	0.26754	1.479931	0.770386907614223	0.23662	0.553676	0.25195	0	0.573888	0.26702	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.89	4.03	0.46115	2.503000	0.45067	2.622000	0.33640	0.634000	0.51959	0.983000	0.35670	0.153000	0.23196	0.142000	0.20019	0.1469:0.0:0.8531:0.0	11.488	0.49613	641	0.64016	Dynein heavy chain, hydrolytic ATP-binding dynein motor region D1;.;.	.	.	.	.	rs17578819	Likely benign	0	0	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	0.011450	0.021505	0.017241	0.009009	0.083333	0.000000	0.012048	0.000000	0.07143	1526.44	35	chr1	225152708	.	G	A	1526.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3;DP=288;ExcessHet=0;FS=0.794;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.97;ReadPosRankSum=-1.085;SOR=0.604	GT:AD:DP:GQ:PL	0/1:42,60:102:99:1537,0,1119	6	0	1	0
chr1	229441970	229441970	C	A	exonic	NUP133	.	nonsynonymous SNV	NUP133:NM_018230:exon26:c.G3405T:p.K1135N	.	.	.	.	.	.	.	.	.	.	.	2706922	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.045	0.0131901292151	.	.	0.0002	0	0	0	0	0.0003	0	0	0.0001294	20	154602	rs200976789	8.823e-05	9.029e-05	8.291e-05	9.36e-05	0.0003	7.536e-05	7.077e-05	8.439e-05	7.933e-05	3.125e-05	8.027e-05	0	0	0	0.0003	0.0001	0.0001	3.699e-05	7.884e-05	7.88e-05	5.139e-05	0.0001	0.0003	4.496e-05	3.512e-05	8.878e-05	5.387e-05	0	0	0.0003	0	0	0	0	0.0001	0	0	0.042	0.41637	D	0.016	0.60972	D	0.031	0.20130	B	0.024	0.20255	B	0.000005	0.62929	D	0.136417	0.998406	0.81001	D	2.455	0.71248	M	1.84	0.24656	T	-2.19	0.49352	N	0.318	0.35832	-1.0966	0.04528	T	0.053	0.22501	T	10	0.17439923	0.32317	T	0.01319	0.32398	T	0.045	0.12272	0.327	0.31034	0.421184727016	0.41734	0.5173296487920751	0.51655	0.199175415848	0.22318	0.639003038406	0.58422	T	0.340068	0.70913	T	-0.400602	0.02294	T	-0.543913	0.17914	T	0.131767258048058	0.15545	T	0.90041	0.65400	D	0.15502436	0.35058	0.11006186	0.26534	0.15502436	0.35057	0.11006186	0.26534	-5.036	0.37228	T	.	.	0.275	0.50835	B	.	.	2.941746	0.39120	20.9	0.99582889955381648	0.73099	0.88288	0.48148	D	AEFDGBI	0.283626	0.39668	N	-0.191101860850928	0.33505	1.901528	-0.0395974747580846	0.37944	2.228612	0.999996824932074	0.74766	0.732398	0.92422	0	0.698795	0.70079	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.6	4.69	0.58546	0.520000	0.22586	1.080000	0.23883	0.599000	0.40250	0.984000	0.35821	1.000000	0.68203	0.223000	0.22544	0.0:0.7911:0.0:0.2089	9.140	0.36060	709	0.56835	.	.	.	.	.	.	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	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1199.44	35	chr1	229441970	.	C	A	1199.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.308;DP=248;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.13;ReadPosRankSum=1.33;SOR=0.655	GT:AD:DP:GQ:PL	0/1:23,47:70:99:1210,0,495	6	0	1	0
chr1	229651283	229651283	G	A	exonic	URB2	.	nonsynonymous SNV	URB2:NM_001314021:exon8:c.G4198A:p.V1400M,URB2:NM_014777:exon8:c.G4198A:p.V1400M	.	429	1062	30	1	0	32	0.0148423	.	.	.	718765	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.146	.	0.0055	0.0061901	0.0073	0.0012	0.0045	0.0001	0.0017	0.0079	0.0134	0.0164	0.007322	1132	154602	rs12142450	0.0075	0.0076	0.0074	0.0077	0.0160	0.0074	0.0074	0.0153	0.0150	0.0014	0.0040	0.0030	0	0.0028	0.0075	0.0078	0.0066	0.0160	0.0051	0.0051	0.0052	0.0050	0.0163	0.0048	0.0047	0.0134	0.0124	0.0016	0	0.0048	0.0029	0.0002	0.0020	0.0137	0.0075	0.0057	0.0163	0.037	0.59928	D	0.015	0.61642	D	0.988	0.62325	D	0.909	0.64565	D	0.002798	0.35935	N	0.300277	0.997342	0.43813	D	2.72	0.79541	M	1.0	0.41392	T	-0.72	0.50337	N	0.359	0.40063	-0.9761	0.35882	T	0.119	0.41691	T	9	0.006525457	0.00148	T	.	.	.	0.146	0.38789	.	.	0.187945064343	0.18414	0.3738495987657628	0.37298	0.345258720488	0.36438	0.27029812336	0.06179	T	0.075909	0.35292	T	-0.411872	0.01931	T	-0.350777	0.39117	T	0.0211395378185626	0.00816	T	0.886711	0.61387	D	0.033498842	0.03579	0.062224187	0.12142	0.033498842	0.03579	0.062224187	0.12141	-4.655	0.32855	T	.	.	0.259	0.49324	B	.;.	.;.	2.609720	0.33888	19.47	0.99700267357857819	0.80591	0.89704	0.50340	D	AEFBI	0.229967	0.35342	N	0.0195449998012908	0.42745	2.581276	-0.0451914890706626	0.37699	2.210879	0.0814482181084177	0.15873	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.683762	0.67416	0	.	.	5.78	-0.505	0.11394	1.045000	0.29951	-0.819000	0.07303	-0.153000	0.12021	1.000000	0.71638	0.000000	0.08366	0.990000	0.65344	0.0:0.3209:0.387:0.2922	10.548	0.44261	508	0.75398	Nucleolar 27S pre-rRNA processing, Urb2/Npa2, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.008560	0.000000	0.004076	0.005848	0.000000	0.017241	0.015244	0.018939	0.1429	1800.44	33	chr1	229651283	.	G	A	1800.44	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.81;DP=334;ExcessHet=0.3476;FS=0.535;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=9.28;ReadPosRankSum=0.161;SOR=0.76	GT:AD:DP:GQ:PL	0/1:50,37:87:99:851,0,1105	5	0	2	0
chr1	240207647	240207647	-	CCCCTTCTTCCCGGGGCAGGCATACCCCTTCCT	exonic	FMN2	.	nonframeshift insertion	FMN2:NM_020066:exon5:c.2835_2836insCCCCTTCTTCCCGGGGCAGGCATACCCCTTCCT:p.P946_P947insLLPGAGIPLPP,FMN2:NM_001305424:exon6:c.2847_2848insCCCCTTCTTCCCGGGGCAGGCATACCCCTTCCT:p.P950_P951insLLPGAGIPLPP	Mental retardation, autosomal recessive 47, Autosomal recessive	34	191	0	1	0	2	0.00520833	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	.	0.0017	0.0041	0.0016	0.0018	0.0052	0.0016	0.0016	0.0046	0.0043	0.0015	0.0015	0.0070	0.0052	0.0020	0.0034	0.0014	0.0030	0.0011	0.0026	0.0080	0.0026	0.0026	0.0038	0.0022	0.0021	0.0028	0.0026	0.0015	0.0027	0.0038	0.0037	0.0015	0.0003	0	0.0034	0.0015	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	117.59	39	chr1	240207647	.	G	GCCCCTTCTTCCCGGGGCAGGCATACCCCTTCCT	117.59	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.544;DP=328;ExcessHet=0;FS=1.288;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=2.45;ReadPosRankSum=-2.394;SOR=1.022	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:36,12:48:99:0|1:240207634_G_C:128,0,1494:240207634	6	0	1	0
chr1	246647339	246647339	A	G	exonic	CNST	.	nonsynonymous SNV	CNST:NM_001139459:exon9:c.A1138G:p.T380A,CNST:NM_152609:exon9:c.A1138G:p.T380A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.00905229374352	.	.	1.65e-05	0	0	0	0	3.003e-05	0	0	1.29e-05	2	154602	rs754240317	1.368e-06	1.368e-06	1.361e-06	1.375e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	6.57e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.12	0.27904	T	0.157	0.35205	T	0.005	0.18235	B	0.009	0.15521	B	0.326480	0.14185	N	0.692657	0.999995	0.08975	N	1.32	0.33002	L	2.17	0.19726	T	-1.6	0.38924	N	0.147	0.14905	-1.0443	0.16030	T	0.029	0.12322	T	10	0.05140525	0.05016	T	0.009052	0.23821	T	0.044	0.11924	0.091	0.01065	0.182106788282	0.17826	0.18241959168717564	0.18160	0.0807488137742	0.09089	0.341373622417	0.16644	T	0.009235	0.08422	T	-0.306356	0.08074	T	-0.677835	0.07116	T	0.0344602715651436	0.02716	T	0.520648	0.16939	T	0.04350216	0.06792	0.036459345	0.03098	0.04350216	0.06791	0.036459345	0.03098	-3.043	0.10651	T	.	.	0.081	0.11414	B	.;.	.;.	-0.206380	0.03059	0.474	0.86108196639858103	0.16319	0.22942	0.21914	N	ALL	0.030984	0.03221	N	-1.0884187709569	0.06856	0.3167925	-1.16529031156188	0.06497	0.3129622	0.999999999576604	0.74766	0.716459	0.82106	0	0.653731	0.59785	0	0.73237	0.93354	0	0.635551	0.53088	0	.	.	5.13	-4.18	0.03584	0.047000	0.13941	-0.363000	0.09661	0.688000	0.82842	0.321000	0.25511	0.000000	0.08366	0.066000	0.16387	0.4393:0.0:0.3108:0.2499	4.232	0.10063	876	0.30350	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1086.44	38	chr1	246647339	.	A	G	1086.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.734;DP=253;ExcessHet=0;FS=1.03;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.81;ReadPosRankSum=1.95;SOR=0.914	GT:AD:DP:GQ:PL	0/1:21,40:61:99:1097,0,500	6	0	1	0
chr1	248361672	248361672	A	0	exonic	OR2T4	.	.	.	.	444	759	27	2	290	321	0.0200129	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	3151.83	37	chr1	248361672	.	A	*	3151.83	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.75;DP=877;ExcessHet=1.1394;FS=3.503;MLEAC=2;MLEAF=0.143;MQ=59.98;MQRankSum=-1.093;QD=4.52;ReadPosRankSum=-2.376;SOR=0.49	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:147,51:198:99:0|1:248361635_ATGGGACTCTTCAGACAATCCAAACATCCAATGGCCAATATCACCTGGATGGCCAACCACACTGGATGGTCGGATTTCATCCTGT_A:1732,0,5992:248361635	5	0	2	0
chr2	1638928	1638928	G	A	exonic	PXDN	.	nonsynonymous SNV	PXDN:NM_012293:exon21:c.C4124T:p.T1375I	Anterior segment dysgenesis 7, with sclerocornea, Autosomal recessive	416	1102	3	0	1	4	0.00135931	.	.	.	250311	Anterior_segment_dysgenesis_7|not_specified|not_provided	MONDO:MONDO:0010015,MedGen:C3151617,OMIM:269400,Orphanet:289499|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.088	.	0.0085	0.0103834	0.0028	0.0289	0.0022	0	0	0.0004	0.0022	0.0003	0.0028201	436	154602	rs61747875	0.0011	0.0011	0.0012	0.0010	0.0296	0.0011	0.0010	0.0281	0.0275	0.0296	0.0022	0	0	0	0.0042	0.0002	0.0037	0.0002	0.0078	0.0078	0.0078	0.0078	0.0263	0.0075	0.0073	0.0250	0.0244	0.0263	0	0.0039	0	0	0	0.0034	0.0005	0.0028	0.0004	0.166	0.23183	T	0.246	0.23984	T	0.018	0.17786	B	0.013	0.16460	B	0.103226	0.19757	N	0.558829	0.999932	0.19363	N	0	0.06538	N	0.14	0.60854	T	-1.52	0.36980	N	0.13	0.12484	-1.0759	0.08164	T	0.021	0.08686	T	10	0.0029197633	0.00047	T	.	.	.	0.088	0.25558	.	.	0.146414634003	0.14194	0.40086080808485314	0.40001	0.436592063625	0.43742	0.282422572374	0.07832	T	0.020411	0.16075	T	-0.613241	0.00121	T	-0.632025	0.10262	T	0.00414689722189722	0.00044	T	0.370863	0.08760	T	0.030039312	0.02599	0.032640807	0.02031	0.030039312	0.02598	0.032640807	0.02031	-3.919	0.22587	T	0.08403174407924402	0.04597	0.083	0.09336	B	.	.	0.774155	0.11441	8.049	0.79235037551299969	0.12650	0.56256	0.30070	D	AEFBCI	0.319302	0.42274	N	-1.06654036109763	0.07267	0.337059	-0.954136630426277	0.10828	0.5478568	0.999285355132043	0.39007	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.43	3.05	0.34272	3.205000	0.50792	3.332000	0.37635	-0.781000	0.03322	0.694000	0.28569	0.980000	0.30356	0.000000	0.00833	0.1358:0.0:0.1542:0.71	7.522	0.26801	840	0.37365	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.07143	1210.53	35	chr2	1638928	.	G	A	1210.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.148;DP=322;ExcessHet=0;FS=1.53;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.81;ReadPosRankSum=0.379;SOR=0.874	GT:AD:DP:GQ:PL	0/1:58,54:112:99:1221,0,1514	6	0	1	0
chr2	1638964	1638964	C	T	exonic	PXDN	.	nonsynonymous SNV	PXDN:NM_012293:exon21:c.G4088A:p.G1363E	Anterior segment dysgenesis 7, with sclerocornea, Autosomal recessive	414	1106	2	0	0	2	0.000903342	.	.	YES	250312	not_specified|not_provided|Anterior_segment_dysgenesis_7	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010015,MedGen:C3151617,OMIM:269400,Orphanet:289499	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.116	.	0.0079	0.00978435	0.0027	0.0274	0.0022	0	0	0.0004	0.0022	0.0003	0.0026843	415	154602	rs61747868	0.0011	0.0011	0.0011	0.0010	0.0283	0.0010	0.0010	0.0268	0.0262	0.0283	0.0020	0	0	0	0.0042	0.0002	0.0034	0.0002	0.0073	0.0073	0.0074	0.0071	0.0244	0.0069	0.0068	0.0232	0.0227	0.0244	0	0.0033	0	0	0	0.0034	0.0005	0.0028	0.0004	0.954	0.02126	T	1.0	0.01155	T	0.018	0.17786	B	0.021	0.19346	B	0.116942	0.02690	N	1.792660	1	0.08975	N	2.015	0.55033	M	0.32	0.58468	T	-0.22	0.10480	N	0.224	0.25130	-1.0152	0.25272	T	0.053	0.22655	T	10	0.003169328	0.00053	T	.	.	.	0.116	0.32463	.	.	0.173771789658	0.16945	0.2272726771962383	0.22642	0.531332312678	0.50637	0.206094011664	0.00656	T	0.009379	0.08542	T	-0.587655	0.00173	T	-0.595952	0.13153	T	0.0068664728333512	0.00078	T	0.367463	0.08589	T	0.037594132	0.04850	0.06252151	0.12246	0.037594132	0.04849	0.06252151	0.12246	-2.594	0.06458	T	.	.	0.071	0.03811	B	.	.	0.213369	0.05968	2.407	0.19410630275831109	0.00654	0.12427	0.17262	N	AEFBCI	0.090778	0.18392	N	-1.00171697384136	0.08568	0.4022237	-0.988152056416629	0.10050	0.5038091	0.998730770338277	0.37559	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.07	3.21	0.35933	0.148000	0.16042	0.140000	0.15159	0.598000	0.34611	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7222:0.0:0.2778	7.715	0.27866	840	0.37365	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009567	0.025253	0.010870	0.005848	0.000000	0.000000	0.003049	0.000000	0.07143	1157.53	35	chr2	1638964	.	C	T	1157.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.368;DP=308;ExcessHet=0;FS=5.186;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.69;ReadPosRankSum=0.592;SOR=1.257	GT:AD:DP:GQ:PL	0/1:50,49:99:99:1168,0,1192	6	0	1	0
chr2	5693647	5693647	G	A	exonic	SOX11	.	nonsynonymous SNV	SOX11:NM_003108:exon1:c.G926A:p.S309N	Mental retardation, autosomal dominant, 27, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3053262	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.281	0.924860536636	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1388644510	8.352e-06	9.577e-06	6.923e-06	9.797e-06	9.941e-06	4.45e-06	3.52e-06	5.33e-06	3.9e-06	0	0	0	0	0	0	9.941e-06	1.678e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.748	0.03609	T	0.193	0.28210	T	0.005	0.12996	B	0.007	0.12992	B	0.866575	0.07149	U	1.072530	0.799552	0.29131	N	0.285	0.10073	N	-4.61	0.97866	D	-1.33	0.33197	N	0.049	0.02088	0.102	0.84220	D	0.770	0.92178	D	10	0.19224998	0.34946	T	0.924861	0.99450	D	0.281	0.59861	0.249	0.18602	0.882393534751	0.88123	0.2395760085774816	0.23871	1.02087520744	0.75113	0.908416390419	0.97318	D	0.172058	0.52041	T	-0.0521707	0.44117	T	-0.312716	0.43367	T	0.100492276251316	0.12412	T	0.476352	0.14285	T	0.095123194	0.22380	0.063290596	0.12514	0.095123194	0.22380	0.063290596	0.12513	-5.066	0.37548	T	0.13802743012335586	0.15238	0.15	0.33156	B	.	.	2.887659	0.38231	20.7	0.96916856080047686	0.31601	0.59779	0.31010	D	AEFDBCIJ	0.312349	0.41781	N	-0.659297916820204	0.17190	0.8824376	-0.457849688616038	0.23326	1.271505	0.99999909364437	0.74766	0.789315	0.99827	0	0.596491	0.49125	0	0.768056	0.98339	0	0.63947	0.58350	0	.	.	4.47	3.59	0.40253	3.029000	0.49397	8.216000	0.76821	-0.142000	0.12367	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.1017:0.0:0.8983:0.0	9.486	0.38093	985	0.02828	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.07143	431.53	28	chr2	5693647	.	G	A	431.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.407;DP=224;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.81;ReadPosRankSum=0.379;SOR=0.715	GT:AD:DP:GQ:PL	0/1:25,19:44:99:442,0,686	6	0	1	0
chr2	11669712	11669712	G	T	exonic	NTSR2	.	nonsynonymous SNV	NTSR2:NM_012344:exon1:c.C418A:p.P140T	.	433	1087	2	0	0	2	0.000919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.354	0.0643991524422	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.177e-06	7.524e-06	1.431e-06	2.944e-06	0.0002	5.8e-07	1.6e-07	.	.	0	0	0	0	0	0.0002	9.298e-07	1.742e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.967	0.56408	D	0.831	0.59664	P	0.029585	0.25432	N	0.280362	0.839503	0.35044	D	3.475	0.92503	M	0.11	0.61208	T	-7.03	0.93810	D	0.949	0.95725	-0.3434	0.73745	T	0.319	0.68865	T	10	0.9842268	0.98604	D	0.064399	0.69266	D	0.354	0.67510	0.926	0.98773	0.854231039027	0.85282	0.4566891877246211	0.45586	2.55136621799	0.97893	0.838663637638	0.87891	D	0.601218	0.87222	D	0.187459	0.72729	D	0.0314954	0.72375	D	0.952192274487339	0.63734	D	0.789521	0.42989	T	0.8518428	0.87472	0.8094507	0.88866	0.8518428	0.87473	0.8094507	0.88866	-11.215	0.80824	D	.	.	0.369	0.57793	A	.	.	4.038614	0.59774	24.1	0.996160879718896	0.75112	0.74858	0.36631	D	AEFBCI	0.865276	0.78432	D	0.468046843614157	0.65235	4.79695	0.312680549910937	0.56283	3.791544	0.999999815854136	0.74766	0.525926	0.21836	0	0.59043	0.45803	0	0.503968	0.08637	0	0.584449	0.35598	0	.	.	3.39	1.5	0.22029	9.485000	0.96909	3.208000	0.36786	0.580000	0.29708	1.000000	0.71638	1.000000	0.68203	0.239000	0.22975	0.1069:0.1774:0.7157:0.0	6.901	0.23461	951	0.11083	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1231.46	33	chr2	11669712	.	G	T	1231.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.167;DP=251;ExcessHet=0;FS=2.15;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.85;ReadPosRankSum=0.464;SOR=0.441	GT:AD:DP:GQ:PL	0/1:22,47:69:99:1242,0,462	6	0	1	0
chr2	21003040	21003040	C	T	exonic	APOB	.	nonsynonymous SNV	APOB:NM_000384:exon29:c.G12382A:p.V4128M	Hypercholesterolemia, due to ligand-defective apo B, Autosomal dominant;Hypobetalipoproteinemia, Autosomal recessive	1	1501	19	1	0	21	0.00694674	.	.	YES	366335	Hypercholesterolemia,_autosomal_dominant,_type_B|Familial_hypobetalipoproteinemia_1|Familial_hypercholesterolemia|not_specified|not_provided|Cardiovascular_phenotype|Hypercholesterolemia,_familial,_1	MONDO:MONDO:0007751,MedGen:C1704417,OMIM:144010|MONDO:MONDO:0014252,MedGen:C4551990,OMIM:615558|MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890|MedGen:CN169374|MedGen:C3661900|MedGen:CN230736|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.024	.	0.0067	0.00339457	0.0062	0.0009	0.0059	0	0.0064	0.0080	0.0146	0.0049	0.0058602	906	154602	rs1801703	0.0072	0.0072	0.0073	0.0072	0.0100	0.0071	0.0071	0.0079	0.0079	0.0017	0.0043	0.0007	7.656e-05	0.0054	0.0100	0.0081	0.0075	0.0052	0.0056	0.0056	0.0057	0.0054	0.0093	0.0053	0.0051	0.0087	0.0085	0.0016	0	0.0046	0.0012	0	0.0048	0.0034	0.0093	0.0052	0.0029	0.618	0.05341	T	0.684	0.06033	T	.	.	.	.	.	.	0.051185	0.02021	N	1.899840	1	0.08975	N	.	.	.	1.47	0.31987	T	0.16	0.05217	N	0.065	0.03726	-1.0567	0.12595	T	0.016	0.06425	T	10	0.0028062165	0.00044	T	.	.	.	0.024	0.04979	.	.	0.149567049428	0.14543	0.09888669999826209	0.09819	0.0368754698301	0.03907	0.182299241424	0.00117	T	.	.	.	-0.723562	0.00026	T	-0.804162	0.01801	T	0.00187586309304137	0.00019	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.09045	B	.	.	-0.778509	0.01150	0.054	0.56985998092514478	0.05670	0.04011	0.09439	N	AEFGBHCI	0.241675	0.36325	N	-2.3493621597773	0.00035	0.001513355	-2.3987015562225	0.00039	0.001737205	0.999999999999984	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.99	-12.0	0.00013	-1.855000	0.01755	-8.347000	0.00985	-0.688000	0.04154	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2677:0.4423:0.1244:0.1655	5.102	0.14098	861	0.33516	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009567	0.010101	0.014946	0.011696	0.000000	0.000000	0.006098	0.003788	0.1429	3150.24	41	chr2	21003040	.	C	T	3150.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.73;DP=445;ExcessHet=0.3476;FS=0.451;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=11.93;ReadPosRankSum=0.865;SOR=0.66	GT:AD:DP:GQ:PL	0/1:71,61:132:99:1474,0,1643	5	0	2	0
chr2	21012294	21012294	G	A	exonic	APOB	.	nonsynonymous SNV	APOB:NM_000384:exon26:c.C4574T:p.S1525F	Hypercholesterolemia, due to ligand-defective apo B, Autosomal dominant;Hypobetalipoproteinemia, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.0352093550815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	.	.	.	.	.	.	0.103487	0.19745	N	0.468884	0.998175	0.22310	N	.	.	.	5.62	0.00808	T	-3.84	0.72240	D	0.318	0.35832	-0.8008	0.55097	T	0.008	0.02884	T	10	0.43239602	0.57575	T	0.035209	0.56191	D	0.176	0.44373	0.361	0.36548	0.72892733797	0.72652	0.5077554197076668	0.50697	0.103416740195	0.11694	0.271432518959	0.06329	T	.	.	.	-0.128973	0.31663	T	-0.423037	0.30727	T	0.99003803730011	0.80250	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.347	0.56363	A	.	.	4.943655	0.81600	27.6	0.99535153274178811	0.70150	0.96221	0.68092	D	AEFBHCI	0.844019	0.76101	D	0.547927680474219	0.69955	5.431325	0.617099314218754	0.76182	6.443943	0.999985940908661	0.51787	0.500041	0.20204	0	0.59043	0.45803	0	0.573888	0.23631	0	0.503917	0.08554	0	.	.	5.88	5.88	0.94564	9.032000	0.93226	11.797000	0.96542	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:1.0:0.0	20.242	0.98383	863	0.32847	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	6399.44	40	chr2	21012294	.	G	A	6399.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.718;DP=725;ExcessHet=0;FS=1.741;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.14;ReadPosRankSum=-0.8;SOR=0.718	GT:AD:DP:GQ:PL	0/1:251,236:487:99:6410,0,6798	6	0	1	0
chr2	31368651	31368651	C	T	exonic	XDH	.	nonsynonymous SNV	XDH:NM_000379:exon19:c.G1990A:p.V664I	Xanthinuria, type I, Autosomal recessive	1	1513	8	0	0	8	0.00263678	.	.	.	286825	Xanthinuria_type_II|XDH-related_disorder|Hereditary_xanthinuria_type_1	MONDO:MONDO:0011346,MedGen:C1863688,OMIM:603592,Orphanet:3467,Orphanet:93602|.|MONDO:MONDO:0010209,MedGen:C0268118,OMIM:278300,Orphanet:3467,Orphanet:93601	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.045	.	7.7e-05	0.00599042	0.0030	0.0003	0.0003	0.0021	0	0	0.0033	0.0208	0.0027037	418	154602	rs201301387	0.0013	0.0013	0.0008	0.0018	0.0200	0.0012	0.0012	0.0192	0.0189	8.961e-05	2.236e-05	3.826e-05	0.0009	0	0.0007	1.978e-05	0.0017	0.0200	0.0007	0.0007	0.0003	0.0011	0.0195	0.0006	0.0006	0.0163	0.0151	9.622e-05	0	0	0	0.0017	0	0	0	0	0.0195	0.153	0.24372	T	0.121	0.35840	T	0.005	0.12996	B	0.036	0.22909	B	0.000028	0.55875	N	0.157599	0.999742	0.48716	D	1.23	0.30720	L	2.6	0.13204	T	-0.54	0.16598	N	0.305	0.34444	-1.0722	0.08936	T	0.030	0.12848	T	10	0.014647812	0.00308	T	.	.	.	0.045	0.12272	.	.	0.200317383148	0.19677	0.5471133804796633	0.54637	0.0346011059205	0.03640	0.25664794445	0.04499	T	0.03551	0.23746	T	-0.609397	0.00128	T	-0.631213	0.10323	T	0.0138443788365512	0.00262	T	0.90351	0.66162	D	0.1408102	0.32473	0.13624482	0.32599	0.1408102	0.32473	0.13624482	0.32598	-6.266	0.48453	T	.	.	0.071	0.03811	B	.	.	1.328819	0.17335	13.10	0.98842861328331999	0.47152	0.84071	0.43156	D	AEFBI	0.202994	0.32954	N	-0.300878388046577	0.29115	1.61177	-0.163831632264861	0.32878	1.875024	0.350842014667173	0.19681	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	6.17	2.25	0.27340	0.651000	0.24559	-0.422000	0.09278	0.599000	0.40250	0.996000	0.39380	0.001000	0.17328	0.976000	0.56436	0.0:0.7108:0.0:0.2892	9.795	0.39898	879	0.29470	Aldehyde oxidase/xanthine dehydrogenase, a/b hammerhead|Aldehyde oxidase/xanthine dehydrogenase, a/b hammerhead	.	.	.	.	.	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	0.003021	0.000000	0.000000	0.000000	0.000000	0.008621	0.003049	0.003788	0.07143	371.63	36	chr2	31368651	.	C	T	371.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.398;DP=217;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.08;ReadPosRankSum=-0.315;SOR=0.562	GT:AD:DP:GQ:PL	0/1:28,18:46:99:382,0,750	6	0	1	0
chr2	47800616	47800616	T	C	exonic	MSH6	.	nonsynonymous SNV	MSH6:NM_001281492:exon2:c.T2243C:p.V748A,MSH6:NM_001281493:exon3:c.T1727C:p.V576A,MSH6:NM_000179:exon4:c.T2633C:p.V878A,MSH6:NM_001281494:exon4:c.T1727C:p.V576A	Colorectal cancer, hereditary nonpolyposis, type 5, Autosomal dominant;Endometrial cancer, familial;Mismatch repair cancer syndrome, Autosomal recessive	0	1484	37	1	0	39	0.0129697	.	.	YES	23970	Hereditary_cancer-predisposing_syndrome|Colorectal_/_endometrial_cancer|Breast_and/or_ovarian_cancer|Lynch_syndrome|not_specified|Mismatch_repair_cancer_syndrome_3|Endometrial_carcinoma|Lynch_syndrome_5|not_provided|Hereditary_nonpolyposis_colorectal_neoplasms|Carcinoma_of_colon|Malignant_tumor_of_breast	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN221548|MedGen:CN221562|MONDO:MONDO:0005835,MedGen:C4552100,Orphanet:144|MedGen:CN169374|MONDO:MONDO:0030841,MedGen:C5436807,OMIM:619097|Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089|MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350,Orphanet:144|MedGen:C3661900|MeSH:D003123,MedGen:C0009405|MONDO:MONDO:0002032,MedGen:C0699790|MONDO:MONDO:0007254,MedGen:C0006142	reviewed_by_expert_panel	Benign	.	.	.	.	.	.	.	.	0.155	.	0.0055	0.00399361	0.0053	0.0011	0.0019	0.0001	0.0003	0.0074	0.0055	0.0064	0.0053039	820	154602	rs2020912	0.0059	0.0059	0.0057	0.0061	0.0170	0.0058	0.0057	0.0143	0.0133	0.0008	0.0034	0.0100	5.038e-05	0.0007	0.0170	0.0064	0.0052	0.0065	0.0046	0.0046	0.0046	0.0047	0.0073	0.0043	0.0042	0.0066	0.0064	0.0008	0.0022	0.0073	0.0069	0	0.0007	0	0.0071	0.0066	0.0052	0.338	0.14645	T	0.478	0.18178	T	0.036	0.20732	B	0.026	0.20792	B	0.003501	0.34847	N	0.308092	2.5814e-05	0.20667	A	1.105	0.28596	L	-2.7	0.90509	D	-1.19	0.30346	N	0.172	0.18920	-0.3685	0.73007	T	0.421	0.76616	T	9	0.035881698	0.01858	T	.	.	.	0.155	0.40530	.	.	0.853631389444	0.85222	0.4509105311589898	0.45009	.	.	0.397578775883	0.24733	T	0.410047	0.76490	T	-0.334646	0.05767	T	-0.249047	0.49909	T	0.00170501993543491	0.00017	T	0.751525	0.37371	T	0.26617947	0.49687	0.09885118	0.23582	0.28716815	0.51729	0.11148119	0.26890	-3.425	0.15395	T	0.0878413940063621	0.05203	0.067	0.05060	B	.;.;.;.;.	.;.;.;.;.	0.764925	0.11347	7.965	0.7259771545986986	0.10029	0.52323	0.29104	D	AEFBCI	0.104344	0.20880	N	-0.873356904237767	0.11479	0.5541805	-0.862848901577208	0.12979	0.6707646	0.993847780497258	0.33379	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.6	1.99	0.25423	0.373000	0.20215	1.239000	0.25094	0.609000	0.47794	0.000000	0.06391	0.929000	0.28499	0.606000	0.31539	0.0:0.2974:0.0:0.7026	8.107	0.30053	905	0.23532	.;.;DNA mismatch repair protein MutS, core|DNA mismatch repair protein MutS, core;DNA mismatch repair protein MutS, core|DNA mismatch repair protein MutS, core;.	.	.	.	.	.	Likely benign	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	0.012085	0.000000	0.012228	0.014620	0.000000	0.034483	0.015244	0.015152	0.07143	1794.46	43	chr2	47800616	.	T	C	1794.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.4;DP=312;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.95;ReadPosRankSum=-2.634;SOR=0.668	GT:AD:DP:GQ:PL	0/1:48,72:120:99:1805,0,1153	6	0	1	0
chr2	53801426	53801426	G	A	exonic	ERLEC1	.	nonsynonymous SNV	ERLEC1:NM_001127397:exon7:c.G555A:p.M185I,ERLEC1:NM_001127398:exon7:c.G555A:p.M185I,ERLEC1:NM_015701:exon7:c.G555A:p.M185I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.0211643238478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.36113	T	0.189	0.28764	T	0.746	0.43152	P	0.173	0.37734	B	0.000000	0.84330	D	0.041969	1	0.81001	D	2.3	0.65703	M	2.97	0.09450	T	-1.09	0.28906	N	0.433	0.47208	-1.1127	0.02848	T	0.030	0.12848	T	9	0.27669924	0.45234	T	0.021164	0.43897	T	0.189	0.46613	0.526	0.63115	0.219573609325	0.21563	0.30734548630797	0.30647	0.302246625128	0.32551	0.778889298439	0.78760	T	0.023659	0.18020	T	-0.0866875	0.38620	T	-0.362297	0.37785	T	0.971960604190826	0.69517	D	0.938006	0.76748	D	0.25663605	0.48704	0.26775464	0.52636	0.25663605	0.48704	0.26775464	0.52635	-6.106	0.58304	T	.	.	0.381	0.58470	A	.;.;.	.;.;.	3.496799	0.48908	22.7	0.99411076655605624	0.63263	0.99123	0.91564	D	AEFBI	0.926520	0.90776	D	0.388603612867998	0.60803	4.27349	0.536133127929176	0.70441	5.505356	0.999999999990121	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.96	5.96	0.96695	8.039000	0.89191	11.929000	0.99898	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	20.422	0.99051	911	0.21964	.;Protein OS9-like;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.07143	1136.53	34	chr2	53801426	.	G	A	1136.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.357;DP=247;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.36;ReadPosRankSum=-1.346;SOR=0.664	GT:AD:DP:GQ:PL	0/1:29,45:74:99:1147,0,741	6	0	1	0
chr2	71070814	71070814	A	T	exonic	NAGK	.	nonsynonymous SNV	NAGK:NM_001330425:exon2:c.A35T:p.D12V,NAGK:NM_001330426:exon3:c.A35T:p.D12V,NAGK:NM_001365466:exon3:c.A35T:p.D12V,NAGK:NM_017567:exon3:c.A188T:p.D63V	.	423	1083	16	0	0	16	0.00733272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.214	0.023547853405	0.0008	0.000798722	0.0014	0.0002	0.0002	0	0.0024	0.0014	0.0022	0.0031	0.0012613	195	154602	rs150821125	0.0011	0.0011	0.0010	0.0012	0.0029	0.0011	0.0011	0.0026	0.0025	0.0001	0.0002	0.0021	5.038e-05	0.0036	0.0014	0.0009	0.0013	0.0029	0.0008	0.0008	0.0009	0.0007	0.0035	0.0007	0.0006	0.0022	0.0018	9.62e-05	0	0.0001	0.0020	0	0.0019	0	0.0011	0	0.0035	0.046	0.45393	D	0.036	0.52060	D	0.992	0.64738	D	0.894	0.63417	P	0.000002	0.62929	D	0.097482	1	0.81001	D	2.28	0.64929	M	1.38	0.34050	T	-3.73	0.70920	D	0.59	0.61764	-0.7414	0.58381	T	0.233	0.59892	T	10	0.011817336	0.00257	T	0.023548	0.46515	T	0.214	0.50650	.	.	0.538468847496	0.53497	0.8059955393416007	0.80554	0.132631176119	0.14947	0.39054608345	0.23746	T	0.356738	0.78410	T	-0.349555	0.04755	T	-0.278252	0.46982	T	0.0805116684489554	0.10053	T	0.90111	0.71149	D	0.8182353	0.85101	0.5553722	0.74284	0.8182353	0.85103	0.5553722	0.74284	-12.052	0.85811	D	.	.	0.402	0.59700	A	.;.;.;.;.;.	.;.;.;.;.;.	4.675165	0.74757	26.2	0.99151072199549117	0.53820	0.90238	0.51257	D	ALL	0.760207	0.69830	D	0.304148349250532	0.56361	3.800712	0.34975443707376	0.58493	4.020069	0.999999995679237	0.74766	0.722319	0.85440	0	0.504199	0.08210	0	0.643519	0.47002	0	0.735409	0.98432	0	.	.	4.95	3.75	0.42236	5.172000	0.64838	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.9101:0.0:0.0899:0.0	9.104	0.35848	872	0.31118	.;.;.;ATPase, BadF/BadG/BcrA/BcrD type;ATPase, BadF/BadG/BcrA/BcrD type;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.07143	1022.44	35	chr2	71070814	.	A	T	1022.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.598;DP=277;ExcessHet=0;FS=0.782;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.76;ReadPosRankSum=1.91;SOR=0.6	GT:AD:DP:GQ:PL	0/1:49,46:95:99:1033,0,1260	6	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	.	.	.	.	.	.	.	.	0.4286	2800.15	163	chr2	94876587	.	C	A	2800.15	.	AC=6;AF=0.429;AN=14;BaseQRankSum=1.58;DP=1332;ExcessHet=8.2628;FS=9.57;MLEAC=6;MLEAF=0.429;MQ=57.92;MQRankSum=-15.02;QD=2.14;ReadPosRankSum=-2.425;SOR=1.776	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:225,18:243:79:0|1:94876587_C_A:79,0,9361:94876587	1	0	6	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	.	.	.	.	.	.	.	.	0.4286	11628.6	212	chr2	94876618	.	C	G	11628.6	.	AC=6;AF=0.429;AN=14;BaseQRankSum=1.18;DP=1811;ExcessHet=8.2628;FS=2.242;MLEAC=6;MLEAF=0.429;MQ=56.71;MQRankSum=-17.41;QD=6.52;ReadPosRankSum=-2.766;SOR=0.944	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:260,47:307:99:0|1:94876587_C_A:1191,0,10776:94876587	1	0	6	0
chr2	94876632	94876632	C	T	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C625T:p.R209C,TEKT4:NM_144705:exon6:c.C1171T:p.R391C	.	431	192	898	1	0	900	0.700935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	0.00282003103799	.	.	0.0020	0.0044	0.0012	0.0058	0	0.0016	0.0025	0.0012	0.00073	19	26028	rs72817671	5.478e-06	9.577e-06	5.451e-06	5.507e-06	7.196e-06	2.36e-06	1.7e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.196e-06	0	0	2.629e-05	2.627e-05	1.285e-05	4.036e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0	0	0	2.94e-05	0	0.0002	0.078	0.33923	T	0.094	0.39645	T	0.048	0.22112	B	0.017	0.18140	B	0.104906	0.19681	N	0.502966	0.998961	0.45775	D	2.51	0.73131	M	4.19	0.02716	T	-4.17	0.75456	D	0.327	0.36779	-0.9567	0.39789	T	0.009	0.03315	T	10	0.010076523	0.00226	T	0.00282	0.05898	T	0.180	0.45073	.	.	0.280181792013	0.27631	0.3283832477789456	0.32751	0.0418521914883	0.04503	0.566292226315	0.48154	T	0.161975	0.50645	T	-0.0952065	0.37216	T	-0.374534	0.36360	T	0.0299758459612643	0.01985	T	0.763824	0.39073	T	0.11296644	0.26684	0.099358894	0.23720	0.11296644	0.26684	0.099358894	0.23719	-7.259	0.55903	T	.	.	0.087	0.11414	B	.	.	2.884469	0.38179	20.7	0.9739629417086707	0.33750	0.03769	0.09084	N	AEFDGBI	0.024782	0.01590	N	-0.521150392773251	0.21396	1.135229	-0.512733045882346	0.21807	1.181449	3.92921537291663E-4	0.06820	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	1.05	0.19280	0.158000	0.16239	-0.300000	0.10122	0.302000	0.18967	0.046000	0.21249	0.000000	0.08366	0.706000	0.34326	0.5496:0.4504:0.0:0.0	6.095	0.19238	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.015609	0.035354	0.004076	0.005848	0.000000	0.008621	0.033537	0.018939	0.5	15709.3	250	chr2	94876632	.	C	T	15709.3	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.741;DP=2072;ExcessHet=8.2628;FS=0;MLEAC=6;MLEAF=0.5;MQ=56.16;MQRankSum=-18.49;QD=7.88;ReadPosRankSum=-1.33;SOR=0.684	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:287,60:347:99:0|1:94876587_C_A:1642,0,11780:94876587	0	0	6	1
chr2	94876671	94876671	A	G	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.A664G:p.I222V,TEKT4:NM_144705:exon6:c.A1210G:p.I404V	.	425	183	912	2	0	916	0.714509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.00380674609401	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs142133592	3.422e-06	3.42e-06	4.086e-06	2.751e-06	3.597e-06	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.597e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.044	0.49663	D	0.967	0.56408	D	0.77	0.56828	P	0.000003	0.62929	D	0.059094	0.999993	0.58761	D	2.465	0.71551	M	3.8	0.03781	T	-0.93	0.24898	N	0.355	0.39659	-1.1543	0.00903	T	0.035	0.15030	T	10	0.2894683	0.46528	T	0.003807	0.08899	T	0.186	0.46104	.	.	0.0716867268079	0.06686	0.38576410498893454	0.38491	0.041304716601	0.04434	0.519737362862	0.41590	T	0.070106	0.33877	T	-0.102007	0.36092	T	-0.384302	0.35219	T	0.773092746734619	0.44626	D	0.518148	0.16784	T	0.11624111	0.27419	0.19920714	0.43791	0.11624111	0.27418	0.19920714	0.43790	-6.086	0.46993	T	.	.	0.080	0.07650	B	.	.	2.197892	0.28028	17.66	0.99758744490040718	0.84851	0.77619	0.38185	D	AEFDGBI	0.245424	0.36636	N	0.178097147237031	0.50149	3.207675	0.0117110839863197	0.40257	2.399706	0.274437957628434	0.18925	0.646311	0.45356	0	0.626922	0.53725	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	2.43	0.28797	2.475000	0.44821	2.894000	0.35409	0.373000	0.20310	0.967000	0.34061	1.000000	0.68203	0.500000	0.29017	1.0:0.0:0.0:0.0	8.354	0.31480	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	19027.1	303	chr2	94876671	.	A	G	19027.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-6.487;DP=2361;ExcessHet=14.2834;FS=1.276;MLEAC=7;MLEAF=0.5;MQ=55.94;MQRankSum=-19.83;QD=8.13;ReadPosRankSum=3.99;SOR=0.582	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:323,77:400:99:0|1:94876671_A_G:2261,0,13244:94876671	0	0	7	0
chr2	94876674	94876674	G	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.G667A:p.A223T,TEKT4:NM_144705:exon6:c.G1213A:p.A405T	.	426	179	915	2	0	919	0.719655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	.	.	0.0115815	0.0037	0.0032	0.0047	0.0156	0.0008	0.0021	0.0047	0.0045	0.0058783	153	26028	rs75603622	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.30375	T	0.267	0.22561	T	0.003	0.11197	B	0.013	0.16460	B	0.039834	0.24126	N	0.433987	0.997095	0.22793	N	3.49	0.92661	M	4.15	0.02815	T	-1.68	0.40082	N	0.141	0.14054	-0.9396	0.42679	T	0.013	0.04985	T	10	0.0041491687	0.00082	T	.	.	.	0.156	0.40720	.	.	0.117506650769	0.11410	0.2704892680538193	0.26961	0.0299475133996	0.03088	0.393358677626	0.24142	T	0.056124	0.30199	T	-0.161562	0.26520	T	-0.469849	0.25532	T	0.0468978844343634	0.04948	T	0.689731	0.29897	T	0.042698704	0.06523	0.104346365	0.25059	0.042698704	0.06523	0.104346365	0.25058	-4.749	0.33991	T	.	.	0.081	0.08129	B	.	.	1.062693	0.14447	11.02	0.91920144370954304	0.21243	0.00957	0.03676	N	AEFDGBI	0.022506	0.01133	N	-1.17567910300973	0.05369	0.2445992	-1.31751710428587	0.04204	0.1977864	0.0017749666691999	0.08872	0.646311	0.45356	0	0.626922	0.53725	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	-2.21	0.06581	0.036000	0.13706	2.580000	0.33410	-0.673000	0.04287	0.001000	0.13787	0.571000	0.25572	0.394000	0.26647	0.1368:0.0:0.6998:0.1633	6.926	0.23596	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012588	0.025253	0.002717	0.011696	0.000000	0.000000	0.021341	0.018939	0.5	19917.1	303	chr2	94876674	.	G	A	19917.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-6.474;DP=2389;ExcessHet=14.2834;FS=1.269;MLEAC=7;MLEAF=0.5;MQ=55.95;MQRankSum=-19.98;QD=8.45;ReadPosRankSum=4.2;SOR=0.604	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:329,77:406:99:0|1:94876671_A_G:2243,0,13386:94876671	0	0	7	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	0.5	9635.83	294	chr2	94876731	.	C	T	9635.83	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-1.43;DP=2227;ExcessHet=14.2834;FS=4.237;MLEAC=7;MLEAF=0.5;MQ=56.87;MQRankSum=-19.16;QD=4.43;ReadPosRankSum=-0.606;SOR=1.099	GT:AD:DP:GQ:PL	0/1:311,61:372:99:516,0,7818	0	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	.	.	.	.	.	.	.	.	0.4286	8284.69	141	chr2	95855390	.	T	C	8284.69	.	AC=6;AF=0.429;AN=14;BaseQRankSum=4.25;DP=1235;ExcessHet=8.2628;FS=29.175;MLEAC=6;MLEAF=0.429;MQ=55.71;MQRankSum=-10.91;QD=6.99;ReadPosRankSum=-6.806;SOR=2.3	GT:AD:DP:GQ:PL	0/1:146,64:210:99:1533,0,3730	1	0	6	0
chr2	95855406	95855406	C	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.G5953C:p.D1985H	.	432	686	404	0	0	404	0.227477	.	.	.	679191	not_provided|Peritoneal_Gliomatosis	MedGen:C3661900|MedGen:C2938915	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.033	.	.	.	0.0207	0.0594	0.0264	0.0384	0.0257	0.0114	0.0158	0.0254	0.0092593	241	26028	rs77972623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.294	0.14793	T	0.006	0.70582	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.59	0.13317	T	1.92	0.00446	N	0.043	0.01577	-0.9422	0.42266	T	0.018	0.07282	T	7	0.0040079057	0.00077	T	.	.	.	0.033	0.08068	.	.	.	.	0.021892873855974753	0.02141	.	.	.	.	.	7.49E-4	0.00347	T	-0.353158	0.04532	T	-0.745064	0.03682	T	0.0110150628429415	0.00159	T	0.357964	0.08163	T	0.04395806	0.06944	0.059117828	0.11040	0.04395806	0.06944	0.059117828	0.11039	-2.163	0.03865	T	.	.	0.356	0.56978	A	.	.	1.452510	0.18737	13.90	0.61318576741591302	0.06679	0.06233	0.12222	N	AEFI	0.034264	0.04212	N	-0.644002368178195	0.17635	0.9091262	-0.743295799460967	0.15887	0.8377953	9.51251238247756E-6	0.01202	0.656854	0.48797	0	0.653731	0.59785	0	0.565031	0.19037	0	0.699908	0.69081	0	.	.	2.64	-0.833	0.10237	1.509000	0.35387	1.837000	0.29159	0.284000	0.18682	1.000000	0.71638	0.009000	0.19889	0.063000	0.16184	0.1431:0.5616:0.2953:0.0	6.110	0.19319	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	1192.27	163	chr2	95855406	.	C	G	1192.27	.	AC=4;AF=0.333;AN=12;BaseQRankSum=0.639;DP=1446;ExcessHet=2.5225;FS=5.666;MLEAC=4;MLEAF=0.333;MQ=53.72;MQRankSum=-5.908;QD=1.27;ReadPosRankSum=-2.7;SOR=1.302	GT:AD:DP:GQ:PL	0/1:197,44:241:99:640,0,5321	2	0	4	1
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	20786.1	211	chr2	95855549	.	T	C	20786.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-1.376;DP=1851;ExcessHet=14.2834;FS=10.642;MLEAC=7;MLEAF=0.5;MQ=44.24;MQRankSum=-11.95;QD=11.46;ReadPosRankSum=0.027;SOR=1.217	GT:AD:DP:GQ:PL	0/1:149,144:293:99:3204,0,3775	0	0	7	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	.	.	.	.	.	.	.	.	0.4286	16523.5	188	chr2	95855576	.	A	G	16523.5	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-1.709;DP=1533;ExcessHet=8.2628;FS=22.634;MLEAC=6;MLEAF=0.429;MQ=45.71;MQRankSum=-11.53;QD=11.19;ReadPosRankSum=-3.191;SOR=1.751	GT:AD:DP:GQ:PL	0/1:154,93:247:99:1967,0,3979	1	0	6	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	.	.	.	.	.	.	.	.	0.4286	12615.5	167	chr2	95855588	.	T	C	12615.5	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-1.998;DP=1397;ExcessHet=8.2628;FS=30.104;MLEAC=6;MLEAF=0.429;MQ=46.88;MQRankSum=-10.46;QD=9.41;ReadPosRankSum=-4.329;SOR=2.057	GT:AD:DP:GQ:PL	0/1:142,75:217:99:1451,0,3750	1	0	6	0
chr2	95859895	95859895	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.A4960G:p.T1654A	.	951	467	84	20	0	124	0.117202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	.	.	0.4444	0.4790	0.4373	0.4517	0.4253	0.4197	0.4345	0.4715	0.0150223	391	26028	rs75198192	4.293e-06	9.85e-05	5.648e-06	2.901e-06	2.806e-05	1.54e-06	1.02e-06	.	.	0	2.806e-05	0	0	4.058e-05	0	0	5.178e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.35165	T	0.222	0.25748	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999981	0.18198	N	.	.	.	2.33	0.16492	T	-0.27	0.11366	N	0.03	0.00717	-0.9918	0.32141	T	0.020	0.08593	T	9	0.0021876395	0.00032	T	.	.	.	0.035	0.08770	.	.	.	.	0.004573925157677656	0.00430	.	.	0.524144649506	0.42211	T	0.007589	0.06987	T	-0.275691	0.11129	T	-0.633787	0.10130	T	0.00243692789656227	0.00025	T	0.119888	0.00926	T	0.026656736	0.01750	0.04326469	0.05342	0.026656736	0.01750	0.04326469	0.05342	-4.496	0.30836	T	.	.	0.118	0.24260	B	.	.	1.595165	0.20400	14.73	0.67616785214816144	0.08408	0.26935	0.23135	N	AEFI	0.048105	0.08173	N	-0.927352117069161	0.10206	0.4865986	-0.909991846583639	0.11858	0.6066753	7.95608252575671E-5	0.04552	0.632932	0.41330	0	0.666794	0.63253	0	0.657636	0.52715	0	0.755437	0.99637	0	.	.	1.85	1.85	0.24418	0.945000	0.28654	2.286000	0.31928	-0.387000	0.05364	0.808000	0.29825	0.078000	0.22336	0.001000	0.02609	0.0:0.0:0.0:1.0	7.648	0.27501	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	1478.13	62	chr2	95859895	.	T	C	1478.13	.	AC=7;AF=0.5;AN=14;BaseQRankSum=0.162;DP=395;ExcessHet=14.2834;FS=0;MLEAC=7;MLEAF=0.5;MQ=58.04;MQRankSum=-1.11;QD=3.84;ReadPosRankSum=0.74;SOR=0.678	GT:AD:DP:GQ:PL	0/1:50,9:59:99:227,0,2011	0	0	7	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	5808.1	86	chr2	95859969	.	A	AT	5808.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-0.067;DP=584;ExcessHet=14.2834;FS=4.534;MLEAC=7;MLEAF=0.5;MQ=59;MQRankSum=-6.302;QD=10.15;ReadPosRankSum=-0.469;SOR=0.952	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:58,28:86:99:0|1:95859969_A_AT:1001,0,2331:95859969	0	0	7	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	5886.14	87	chr2	95859970	.	G	T	5886.14	.	AC=7;AF=0.5;AN=14;BaseQRankSum=0.463;DP=588;ExcessHet=14.2834;FS=4.534;MLEAC=7;MLEAF=0.5;MQ=58.97;MQRankSum=-6.346;QD=10.22;ReadPosRankSum=-0.399;SOR=0.978	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:58,30:88:99:0|1:95859969_A_AT:1085,0,2325:95859969	0	0	7	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	5848.14	86	chr2	95859975	.	C	T	5848.14	.	AC=7;AF=0.5;AN=14;BaseQRankSum=0.675;DP=581;ExcessHet=14.2834;FS=3.611;MLEAC=7;MLEAF=0.5;MQ=58.94;MQRankSum=-6.341;QD=10.17;ReadPosRankSum=-0.758;SOR=1.023	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:59,30:89:99:0|1:95859969_A_AT:1082,0,2355:95859969	0	0	7	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	4929.98	80	chr2	95859988	.	T	C	4929.98	.	AC=7;AF=0.5;AN=14;BaseQRankSum=0.295;DP=563;ExcessHet=14.2834;FS=2.86;MLEAC=7;MLEAF=0.5;MQ=58.91;MQRankSum=-6.506;QD=9;ReadPosRankSum=-0.371;SOR=0.943	GT:AD:DP:GQ:PL	0/1:58,32:90:99:1150,0,1360	0	0	7	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	2934.14	77	chr2	95860002	.	T	A	2934.14	.	AC=7;AF=0.5;AN=14;BaseQRankSum=1.03;DP=541;ExcessHet=14.2834;FS=3.176;MLEAC=7;MLEAF=0.5;MQ=58.85;MQRankSum=-5.515;QD=5.56;ReadPosRankSum=-0.983;SOR=1.084	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:66,23:89:99:.:.:355,0,2516:.	0	0	7	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	4227.14	75	chr2	95860007	.	A	T	4227.14	.	AC=7;AF=0.5;AN=14;BaseQRankSum=1.06;DP=520;ExcessHet=14.2834;FS=3.946;MLEAC=7;MLEAF=0.5;MQ=58.83;MQRankSum=-5.622;QD=8.26;ReadPosRankSum=-0.949;SOR=1.107	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:57,32:89:99:.:.:1152,0,1366:.	0	0	7	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	3569.07	69	chr2	95860020	.	G	A	3569.07	.	AC=7;AF=0.5;AN=14;BaseQRankSum=0.603;DP=481;ExcessHet=14.2834;FS=5.226;MLEAC=6;MLEAF=0.429;MQ=58.68;MQRankSum=-5.391;QD=7.56;ReadPosRankSum=-1.017;SOR=1.106	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:54,26:80:99:0|1:95860020_G_A:929,0,2145:95860020	0	0	7	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	.	.	.	.	.	.	.	.	0.4286	3360.29	69	chr2	95860023	.	A	C	3360.29	.	AC=6;AF=0.429;AN=14;BaseQRankSum=1.53;DP=471;ExcessHet=8.2628;FS=5.387;MLEAC=6;MLEAF=0.429;MQ=58.66;MQRankSum=-6.123;QD=7.23;ReadPosRankSum=-1.05;SOR=1.183	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:53,25:78:99:0|1:95860020_G_A:890,0,2116:95860020	1	0	6	0
chr2	95860046	95860046	C	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.G4809T:p.K1603N	.	996	348	132	46	0	224	0.243478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	.	.	0.2995	0.4068	0.4155	0.3993	0.0859	0.3214	0.2411	0.2818	0.0869064	2262	26028	rs79908880	2.159e-06	4.789e-06	1.421e-06	2.916e-06	3.19e-05	5.8e-07	1.6e-07	3.1e-07	1.2e-07	3.19e-05	0	0	0	0	0	1.863e-06	0	0	1.972e-05	1.97e-05	2.57e-05	1.346e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0	0	0	2.94e-05	0	0	0.767	0.03412	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	P	.	.	.	2.33	0.16492	T	1.87	0.00472	N	0.043	0.01577	-0.9644	0.38330	T	0.008	0.02842	T	8	0.0017981231	0.00024	T	.	.	.	0.027	0.05988	0.388	0.40951	.	.	0.009782736317217211	0.00940	.	.	0.538346886635	0.44213	T	0.002324	0.01720	T	-0.380822	0.03079	T	-0.784801	0.02311	T	0.00124196999210505	0.00012	T	0.263374	0.04265	T	0.04313465	0.06669	0.036235157	0.03030	0.04313465	0.06669	0.036235157	0.03030	-0.766	0.00774	T	.	.	0.068	0.02639	B	.	.	-0.084979	0.03731	0.770	0.10447506845337422	0.00132	0.00336	0.01748	N	AEFI	0.012014	0.00120	N	-2.28437407882715	0.00049	0.002118662	-2.21407410585182	0.00104	0.004576006	2.08611004689468E-5	0.02871	0.632932	0.41330	0	0.666794	0.63253	0	0.657636	0.52715	0	0.755437	0.99637	0	.	.	1.85	-2.51	0.05996	1.202000	0.31878	0.062000	0.14145	-1.184000	0.01383	0.735000	0.28974	0.000000	0.08366	0.000000	0.00833	0.4851:0.195:0.1314:0.1885	0.839	0.01073	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	2164.34	48	chr2	95860046	.	C	A	2164.34	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.436;DP=347;ExcessHet=11.5949;FS=9.343;MLEAC=7;MLEAF=0.583;MQ=58.29;MQRankSum=-6.579;QD=6.33;ReadPosRankSum=-0.695;SOR=1.274	GT:AD:DP:GQ:PL	0/1:39,20:59:99:723,0,965	0	0	6	1
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	5378.45	93	chr2	95927222	.	G	GAT	5378.45	.	AC=6;AF=0.429;AN=14;BaseQRankSum=3.55;DP=740;ExcessHet=8.2628;FS=47.786;MLEAC=6;MLEAF=0.429;MQ=54.26;MQRankSum=-8.987;QD=7.46;ReadPosRankSum=-3.489;SOR=3.955	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,31:124:99:0|1:95927222_G_GAT:1022,0,3812:95927222	1	0	6	0
chr2	95927227	95927228	TT	-	exonic	ANKRD36C	.	frameshift deletion	ANKRD36C:NM_001310154:exon28:c.1925_1926del:p.Q642Pfs*18	.	630	694	193	5	0	203	0.127593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0015	0.0011	0.0019	0.0005	0.0013	0	0.0007	0.0009605	25	26028	rs772059065	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	7647.22	111	chr2	95927226	.	GTT	G	7647.22	.	AC=6;AF=0.5;AN=12;BaseQRankSum=2.98;DP=834;ExcessHet=11.5949;FS=15.377;MLEAC=6;MLEAF=0.5;MQ=54.17;MQRankSum=-8.81;QD=9.31;ReadPosRankSum=-4.258;SOR=1.825	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:103,38:141:99:0|1:95927222_G_GAT:1286,0,4211:95927222	0	0	6	1
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	9881.26	117	chr2	95927234	.	T	C	9881.26	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.882;DP=933;ExcessHet=11.5949;FS=9.538;MLEAC=6;MLEAF=0.5;MQ=53.98;MQRankSum=-10.25;QD=10.79;ReadPosRankSum=-4.892;SOR=1.331	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:110,48:158:99:0|1:95927222_G_GAT:1684,0,4474:95927222	0	0	6	1
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	17795.3	150	chr2	95927252	.	A	G	17795.3	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.09;DP=1238;ExcessHet=8.2628;FS=0.542;MLEAC=6;MLEAF=0.5;MQ=53.07;MQRankSum=-13.03;QD=14.62;ReadPosRankSum=-4.252;SOR=0.744	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:123,86:209:99:0|1:95927222_G_GAT:3241,0,4906:95927222	0	0	6	1
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	24657.3	182	chr2	95927268	.	C	A	24657.3	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-3.823;DP=1504;ExcessHet=8.2628;FS=3.23;MLEAC=6;MLEAF=0.5;MQ=52.22;MQRankSum=-14.46;QD=16.66;ReadPosRankSum=-2.383;SOR=0.5	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:141,117:258:99:0|1:95927222_G_GAT:4428,0,5517:95927222	0	0	6	1
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	25059.3	185	chr2	95927277	.	C	T	25059.3	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-4.406;DP=1568;ExcessHet=8.2628;FS=3.217;MLEAC=6;MLEAF=0.5;MQ=52.16;MQRankSum=-14.78;QD=16.42;ReadPosRankSum=-0.832;SOR=0.485	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:144,120:264:99:0|1:95927222_G_GAT:4484,0,5503:95927222	0	0	6	1
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	9403.14	109	chr2	95929092	.	T	C	9403.14	.	AC=7;AF=0.5;AN=14;BaseQRankSum=2.46;DP=834;ExcessHet=14.2834;FS=2.733;MLEAC=7;MLEAF=0.5;MQ=47.24;MQRankSum=-7.649;QD=11.37;ReadPosRankSum=-2.432;SOR=0.918	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:89,49:138:99:0|1:95929092_T_C:1761,0,3526:95929092	0	0	7	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	10904.1	122	chr2	95929110	.	A	G	10904.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=7.44;DP=933;ExcessHet=14.2834;FS=9.276;MLEAC=7;MLEAF=0.5;MQ=45.86;MQRankSum=-7.496;QD=11.78;ReadPosRankSum=-1.573;SOR=1.331	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:110,57:167:99:0|1:95929092_T_C:2062,0,4447:95929092	0	0	7	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	14878.1	133	chr2	95929126	.	C	A	14878.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=2.97;DP=1096;ExcessHet=14.2834;FS=16.644;MLEAC=7;MLEAF=0.5;MQ=44.44;MQRankSum=-8.355;QD=13.59;ReadPosRankSum=-0.916;SOR=1.703	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:125,71:196:99:0|1:95929092_T_C:2605,0,5035:95929092	0	0	7	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	16069.1	136	chr2	95929130	.	G	C	16069.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=5.74;DP=1133;ExcessHet=14.2834;FS=18.396;MLEAC=7;MLEAF=0.5;MQ=43.98;MQRankSum=-8.318;QD=14.18;ReadPosRankSum=-1.245;SOR=1.786	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:124,77:201:99:0|1:95929092_T_C:2860,0,4975:95929092	0	0	7	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	16878.1	136	chr2	95929135	.	C	T	16878.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=4.46;DP=1199;ExcessHet=14.2834;FS=19.883;MLEAC=7;MLEAF=0.5;MQ=43.39;MQRankSum=-8.146;QD=14.46;ReadPosRankSum=-1.214;SOR=1.834	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:128,85:213:99:0|1:95929092_T_C:3106,0,5059:95929092	0	0	7	0
chr2	95938988	95938988	G	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon21:c.C1559T:p.T520M	.	433	1064	25	0	0	25	0.0116117	0.0019	0.058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.00358383873767	.	.	0.0008	0.0020	0	0	0	0.0006	0	0.0010	3.84e-05	1	26028	rs773518718	3.368e-05	0.0023	3.762e-05	2.964e-05	0.0002	2.581e-05	2.309e-05	2.745e-05	2.411e-05	6.446e-05	0	0	0	2.868e-05	0.0002	3.668e-05	1.75e-05	2.558e-05	0.0002	0.0081	0.0002	0.0002	0.0003	0.0001	0.0001	0.0002	0.0001	0.0002	0	0.0001	0	0	0	0	0.0003	0	0.0002	0.004	0.65419	D	0.024	0.56640	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	2.28	0.17271	T	-0.53	0.16393	N	0.281	0.31814	-0.9892	0.32803	T	0.020	0.08453	T	7	0.03198269	0.01341	T	0.003584	0.08185	T	0.149	0.39377	.	.	0.178374595973	0.17440	0.014443033403048736	0.01401	.	.	.	.	.	0.002069	0.01480	T	-0.147704	0.28672	T	-0.449943	0.27704	T	0.0906841967604471	0.11299	T	0.333467	0.07063	T	0.033097263	0.03462	0.039411556	0.04027	0.033097263	0.03461	0.039411556	0.04026	-6.118	0.47256	T	.	.	0.178	0.38836	B	.	.	2.441070	0.31414	18.74	0.98811733487386921	0.46623	0.00864	0.03432	N	AEFI	0.028764	0.02595	N	-0.77103426884397	0.14069	0.6978785	-1.00239556869833	0.09733	0.4859265	1.40968710131015E-5	0.02871	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	1.23	-1.66	0.07824	0.174000	0.16557	-1.592000	0.05103	-0.567000	0.04800	0.549000	0.27338	0.000000	0.08366	0.356000	0.25796	0.2835:0.0:0.3063:0.4102	2.081	0.03415	252	0.90114	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	87.26	69	chr2	95938988	.	G	A	87.26	.	AC=1;AF=0.083;AN=12;BaseQRankSum=4.34;DP=607;ExcessHet=0;FS=11.869;MLEAC=1;MLEAF=0.083;MQ=40.07;MQRankSum=-0.814;QD=0.78;ReadPosRankSum=-0.227;SOR=3.034	GT:AD:DP:GQ:PL	0/1:100,12:112:97:97,0,3806	5	0	1	1
chr2	97164310	97164310	C	T	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon19:c.C1457T:p.T486M	.	427	1077	18	0	0	18	0.00828729	0.0014	0.05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.0016765343655	.	.	0.0002	0.0007	0	0	0	0.0003	0	0	3.84e-05	1	26028	rs774373371	3.625e-06	0.0004	4.294e-06	2.938e-06	3.81e-05	1.06e-06	7.7e-07	1.012e-05	4.81e-06	0	2.819e-05	0	0	0	0	9.305e-07	0	3.81e-05	5.955e-05	0.0026	5.18e-05	6.765e-05	0.0001	3.097e-05	2.224e-05	6.313e-05	4.319e-05	0.0001	0	0	0	0	0	0	4.449e-05	0	0	0.004	0.65419	D	0.009	0.66756	D	0.987	0.61912	D	0.277	0.40197	B	.	.	.	.	1	0.08975	N	0	0.06538	N	2.28	0.17271	T	-0.7	0.19933	N	0.073	0.05670	-1.0167	0.24787	T	0.021	0.08963	T	9	0.07083854	0.10361	T	0.001677	0.02779	T	0.084	0.24469	.	.	0.260249123532	0.25628	.	.	.	.	0.531964659691	0.43311	T	0.005051	0.04483	T	-0.20618	0.19919	T	-0.53394	0.18895	T	0.330452779565258	0.26243	T	0.351165	0.07832	T	0.026622346	0.01743	0.045288295	0.06059	0.026622346	0.01743	0.045288295	0.06059	-5.888	0.45333	T	.	.	0.254	0.48857	B	.;.	.;.	1.356743	0.17649	13.29	0.99389198893739084	0.62247	0.01211	0.04306	N	AEFI	0.021689	0.00994	N	-0.613686789745526	0.18533	0.9629107	-0.785615879548242	0.14847	0.777938	9.09601687179923E-6	0.01202	0.656854	0.48797	0	0.633656	0.55848	0	0.618467	0.43123	0	0.699908	0.69081	0	.	.	0.945	-0.435	0.11667	0.420000	0.20983	-0.520000	0.08695	-0.687000	0.04166	0.700000	0.28626	0.000000	0.08366	0.226000	0.22626	0.5726:0.4274:0.0:0.0	3.693	0.07887	226	0.91233	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	51.45	90	chr2	97164310	.	C	T	51.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.354;DP=675;ExcessHet=0;FS=1.039;MLEAC=1;MLEAF=0.071;MQ=39.63;MQRankSum=-0.687;QD=0.45;ReadPosRankSum=0.466;SOR=0.467	GT:AD:DP:GQ:PL	0/1:99,16:115:62:62,0,3469	6	0	1	0
chr2	97185337	97185337	C	-	exonic	ANKRD36	.	frameshift deletion	ANKRD36:NM_001354587:exon29:c.1961delC:p.S655Qfs*12	.	498	735	288	1	0	290	0.164773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1402796432	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	1449.44	53	chr2	97185336	.	GC	G	1449.44	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-0.298;DP=592;ExcessHet=8.2628;FS=4.126;MLEAC=6;MLEAF=0.429;MQ=47.3;MQRankSum=-4.911;QD=2.72;ReadPosRankSum=-0.416;SOR=0.472	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:95,14:109:99:0|1:97185336_GC_G:302,0,3947:97185336	1	0	6	0
chr2	97185340	97185340	C	G	exonic	ANKRD36	.	stopgain	ANKRD36:NM_001354587:exon29:c.C1964G:p.S655X	.	497	736	288	1	0	290	0.164586	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs961387199	6.861e-07	2.052e-06	1.365e-06	0	2.527e-05	0	0	.	.	0	0	0	2.527e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.055	0.02658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.289078	0.09729	T	-0.653017	0.08744	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant;Tolerant	High;High	2.985359	0.39833	21.0	0.68029575050880731	0.08533	0.00253	0.01392	N	AEFI	0.017170	0.00433	N	-0.957463532196475	0.09526	0.4512341	-1.36962598911469	0.03580	0.1672776	1.88742451027402E-5	0.02871	0.651	0.46895	0	0.633656	0.55848	0	0.670488	0.60580	0	0.683762	0.67416	0	.	.	1.06	-2.12	0.06766	-0.027000	0.12319	-1.673000	0.04942	-4.347000	0.00032	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.3106:0.2305:0.0:0.4589	1.483	0.02294	216	0.91608	.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4286	1427.48	54	chr2	97185340	.	C	G	1427.48	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-0.163;DP=596;ExcessHet=8.2628;FS=2.936;MLEAC=6;MLEAF=0.429;MQ=47.07;MQRankSum=-4.73;QD=2.65;ReadPosRankSum=0.212;SOR=0.473	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:96,14:110:99:0|1:97185336_GC_G:299,0,3989:97185336	1	0	6	0
chr2	97185341	97185341	-	G	exonic	ANKRD36	.	frameshift insertion	ANKRD36:NM_001354587:exon29:c.1965_1966insG:p.K656Efs*5	.	498	735	288	1	0	290	0.164773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1297719451	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	1421.44	55	chr2	97185341	.	A	AG	1421.44	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-0.101;DP=598;ExcessHet=8.2628;FS=2.924;MLEAC=6;MLEAF=0.429;MQ=46.99;MQRankSum=-4.73;QD=2.63;ReadPosRankSum=0.2;SOR=0.479	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:95,14:109:99:0|1:97185336_GC_G:302,0,3947:97185336	1	0	6	0
chr2	97185346	97185349	TAAT	-	splicing	ANKRD36	.	.	.	.	500	739	281	2	0	285	0.161656	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1368364794	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	1417.44	57	chr2	97185345	.	GTAAT	G	1417.44	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-0.295;DP=624;ExcessHet=8.2628;FS=5.664;MLEAC=6;MLEAF=0.429;MQ=46.33;MQRankSum=-4.278;QD=2.5;ReadPosRankSum=0.674;SOR=0.586	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,15:113:99:0|1:97185336_GC_G:315,0,4057:97185336	1	0	6	0
chr2	97196602	97196602	A	G	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon41:c.A2561G:p.Q854R	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.200	0.00460899066727	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.368	0.16570	T	0.551	0.38139	P	0.458	0.46341	P	.	.	.	.	1	0.08975	N	1.585	0.39878	L	-0.82	0.74053	T	-0.85	0.23156	N	0.104	0.12770	-0.8239	0.53689	T	0.263	0.63394	T	8	0.08240932	0.13598	T	0.004609	0.11409	T	0.200	0.48430	0.083	0.00760	0.17948927462	0.17512	.	.	.	.	0.659515321255	0.61339	T	0.003977	0.03383	T	-0.157261	0.27182	T	-0.463671	0.26200	T	0.249226823449135	0.22838	T	0.468753	0.13831	T	0.15352279	0.34795	0.16706157	0.38561	0.15352279	0.34795	0.16706157	0.38561	-6.658	0.51493	T	.	.	0.174	0.38062	B	.;.	.;.	0.853210	0.12254	8.797	0.48717751916907193	0.04089	0.03692	0.08968	N	AEFBI	0.029950	0.02922	N	-1.12397828342136	0.06219	0.2856846	-1.28719826175297	0.04603	0.2174893	8.31192681089556E-4	0.07887	0.372202	0.05800	0	0.546412	0.12157	0	0.463624	0.06942	0	0.322989	0.05693	1	.	.	0.439	-0.878	0.10079	0.373000	0.20215	-0.423000	0.09272	-0.592000	0.04645	0.453000	0.26589	0.000000	0.08366	0.001000	0.02609	.	.	.	207	0.91931	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	829.44	35	chr2	97196602	.	A	G	829.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.741;DP=339;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=59.94;MQRankSum=0.794;QD=7.09;ReadPosRankSum=-1.59;SOR=0.751	GT:AD:DP:GQ:PL	0/1:73,44:117:99:840,0,1848	6	0	1	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	0.5	15899.3	101	chr2	97513220	.	G	A	15899.3	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-1.012;DP=819;ExcessHet=11.5949;FS=1.796;MLEAC=7;MLEAF=0.583;MQ=37.36;MQRankSum=-4.104;QD=19.48;ReadPosRankSum=0.6;SOR=0.895	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:86,61:147:99:0|1:97513219_T_C:2303,0,3428:97513219	0	0	6	1
chr2	97513227	97513227	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2758G:p.K920E	.	611	640	249	22	0	293	0.186268	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0214	0.0529	0.0036	0	0.0702	0.0066	0.0682	0.0028	3.84e-05	1	26028	rs79390266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.05707	T	0.544	0.37968	P	0.044	0.24394	B	.	.	.	.	.	.	.	1.445	0.36358	L	.	.	.	.	.	.	0.12	0.33250	.	.	.	.	.	.	.	0.0055945516	0.00124	T	.	.	.	.	.	.	.	0.168933306366	0.16529	0.003989330973675759	0.00373	.	.	0.735671639442	0.72336	T	0.033889	0.23100	T	-0.112291	0.34391	T	-0.399074	0.33492	T	.	.	.	0.369363	0.08678	T	0.05957855	0.12126	0.07929396	0.17837	0.05957855	0.12126	0.07929396	0.17837	-5.258	0.39526	T	.	.	0.142	0.33086	B	.;.;.	.;.;.	1.364301	0.17734	13.34	0.46228864402172176	0.03687	0.02246	0.06510	N	AEFI	.	.	.	.	.	.	.	.	.	4.68263816856013E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.223356	0.04673	0	0.103977	0.22772	1.25	1.25	0.20475	-0.034000	0.12176	-6.769000	0.01311	0.334000	0.19664	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.0:0.0:1.0	6.615	0.21965	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.049467	0.010417	0.061189	0.058140	0.000000	0.104651	0.038462	0.040000	0.5	17092.3	109	chr2	97513227	.	T	C	17092.3	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.344;DP=900;ExcessHet=11.5949;FS=2.51;MLEAC=7;MLEAF=0.583;MQ=37.92;MQRankSum=-4.452;QD=19.58;ReadPosRankSum=1.08;SOR=0.888	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:90,63:153:99:0|1:97513219_T_C:2374,0,3589:97513219	0	0	6	1
chr2	97513244	97513244	G	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.C2741A:p.P914Q	.	595	624	272	31	0	334	0.211125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023	0.0143	0	0	0	0.0016	0	0	3.84e-05	1	26028	rs79527710	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.569	0.10391	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	.	.	.	-1.445	0.00556	N	.	.	.	.	.	.	0.188	0.27435	.	.	.	.	.	.	.	0.0063654184	0.00144	T	.	.	.	.	.	.	.	0.320256813643	0.31633	0.004245720093313631	0.00398	.	.	0.703683018684	0.67677	T	0.006209	0.05647	T	-0.125373	0.32247	T	-0.417866	0.31321	T	.	.	.	0.315568	0.06252	T	0.023773897	0.01146	0.07268516	0.15708	0.023773897	0.01146	0.07268516	0.15708	0.674	0.00180	T	.	.	0.102	0.17827	B	.;.;.	.;.;.	-0.119120	0.03530	0.672	0.19522481671669692	0.00662	0.00471	0.02257	N	AEFI	.	.	.	.	.	.	.	.	.	1.11447686844719E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0495094	0.09020	1.25	-0.0318	0.13235	0.839000	0.27239	1.716000	0.28228	-0.610000	0.04588	0.997000	0.40164	0.949000	0.28973	0.001000	0.02609	0.2806:0.0:0.2874:0.432	2.311	0.03930	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4286	20767.0	120	chr2	97513244	.	G	T	20767.0	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-0.977;DP=1023;ExcessHet=8.2628;FS=0.524;MLEAC=6;MLEAF=0.429;MQ=38.49;MQRankSum=-5.106;QD=20.34;ReadPosRankSum=0.451;SOR=0.777	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:99,81:180:99:0|1:97513244_G_T:3103,0,3913:97513244	1	0	6	0
chr2	97513253	97513253	A	G	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.T2732C:p.V911A	.	594	617	279	32	0	343	0.217502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0083	0	0	0	0.0008	0	0	3.84e-05	1	26028	rs80295552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.424	0.23914	T	0.008	0.14655	B	0.002	0.06944	B	.	.	.	.	.	.	.	0.69	0.16971	N	.	.	.	.	.	.	0.109	0.12627	.	.	.	.	.	.	.	0.00813821	0.00185	T	.	.	.	.	.	.	.	0.216624796971	0.21254	0.003043674037080383	0.00283	.	.	0.697517633438	0.66786	T	0.028597	0.20678	T	-0.148518	0.28543	T	-0.451112	0.27575	T	.	.	.	0.321068	0.06505	T	0.015220522	0.00128	0.050442122	0.07918	0.015220522	0.00128	0.050442122	0.07917	-2.994	0.10116	T	.	.	0.23	0.46273	B	.;.;.	.;.;.	0.168625	0.05582	2.036	0.46468697738120324	0.03724	0.00493	0.02333	N	AEFI	.	.	.	.	.	.	.	.	.	1.09581247054722E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0502799	0.09584	1.25	0.037	0.13512	-0.176000	0.09802	-1.469000	0.05369	-0.632000	0.04510	0.008000	0.17931	0.000000	0.08366	0.002000	0.04165	0.5217:0.0:0.4783:0.0	4.080	0.09400	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000639	0.000000	0.002857	0.004630	0.000000	0.000000	0.000000	0.000000	0.5	21976.1	130	chr2	97513253	.	A	G	21976.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-1.633;DP=1084;ExcessHet=14.2834;FS=1.729;MLEAC=7;MLEAF=0.5;MQ=38.62;MQRankSum=-5.367;QD=20.46;ReadPosRankSum=-0.152;SOR=0.804	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:106,90:196:99:0|1:97513244_G_T:3460,0,4160:97513244	0	0	7	0
chr2	97513254	97513254	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2731A:p.V911M	.	594	616	280	32	0	344	0.218274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0076	0	0	0	0.0011	0	0	7.68e-05	2	26028	rs74341509	0.0001	0.0001	0.0001	0.0002	0.0002	0.0001	0.0001	0.0002	0.0001	0	0	0	0	0	0	0.0002	0.0002	0	8.256e-05	9.122e-05	7.317e-05	9.244e-05	0.0002	4.621e-05	3.529e-05	9.276e-05	7.178e-05	0	0	0	0	0	0	0	0.0002	0	0	.	.	.	0.098	0.39040	T	0.053	0.22573	B	0.004	0.10090	B	.	.	.	.	.	.	.	0.345	0.11182	N	.	.	.	.	.	.	0.115	0.14480	.	.	.	.	.	.	.	0.008039981	0.00183	T	.	.	.	.	.	.	.	0.201204373187	0.19734	0.004376723944163083	0.00411	.	.	0.681571960449	0.64493	T	0.010384	0.09385	T	-0.177895	0.24050	T	-0.493311	0.23044	T	.	.	.	0.538946	0.18179	T	0.01859633	0.00382	0.05722728	0.10366	0.01859633	0.00382	0.05722728	0.10366	-3.253	0.13139	T	.	.	0.167	0.37746	B	.;.;.	.;.;.	0.527632	0.08965	5.745	0.40177876468154022	0.02819	0.00378	0.01916	N	AEFI	.	.	.	.	.	.	.	.	.	1.15642168101809E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0502799	0.09584	1.25	-0.662	0.10840	-0.590000	0.05854	-9.274000	0.00843	0.304000	0.19002	0.004000	0.16614	0.000000	0.08366	0.002000	0.04165	0.0:0.6788:0.0:0.3212	5.565	0.16451	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006345	0.000000	0.005682	0.000000	0.000000	0.000000	0.008264	0.008696	0.5	21979.1	129	chr2	97513254	.	C	T	21979.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-1.182;DP=1084;ExcessHet=14.2834;FS=1.105;MLEAC=7;MLEAF=0.5;MQ=38.6;MQRankSum=-5.281;QD=20.48;ReadPosRankSum=-0.089;SOR=0.8	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:106,90:196:99:0|1:97513244_G_T:3460,0,4160:97513244	0	0	7	0
chr2	97513268	97513268	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2717A:p.R906K	.	591	591	298	42	0	382	0.244246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2502	0.2966	0.2791	0.2632	0.3769	0.2470	0.2431	0.1747	0.0004995	13	26028	rs144131603	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.274	0.27235	T	0.119	0.26641	B	0.008	0.13708	B	.	.	.	.	.	.	.	1.495	0.37439	L	.	.	.	.	.	.	0.042	0.16028	.	.	.	.	.	.	.	0.002357304	0.00035	T	.	.	.	.	.	.	.	.	.	0.005747616653950952	0.00544	.	.	0.613570392132	0.54820	T	0.017136	0.14032	T	-0.187866	0.22573	T	-0.507633	0.21559	T	.	.	.	0.572743	0.20478	T	0.03131732	0.02950	0.0672792	0.13896	0.03131732	0.02950	0.0672792	0.13896	-3.791	0.20670	T	.	.	0.137	0.29968	B	.;.;.	.;.;.	-1.310648	0.00429	0.009	0.36842002943516644	0.02393	0.00779	0.03201	N	AEFI	.	.	.	.	.	.	.	.	.	1.25854079706441E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.0933222	0.21027	1.25	0.308	0.15062	-1.265000	0.02953	-5.898000	0.01560	-1.898000	0.00526	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7823:0.0:0.2177	5.370	0.15434	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.308701	0.315385	0.320055	0.309735	0.250000	0.263158	0.341912	0.338843	0.5	23134.1	135	chr2	97513268	.	C	T	23134.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-0.204;DP=1127;ExcessHet=14.2834;FS=1.103;MLEAC=7;MLEAF=0.5;MQ=39;MQRankSum=-5.273;QD=20.6;ReadPosRankSum=-0.689;SOR=0.807	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:107,98:205:99:0|1:97513268_C_T:3793,0,4198:97513268	0	0	7	0
chr2	97513270	97513270	A	C	exonic	ANKRD36B	.	stopgain	ANKRD36B:NM_025190:exon38:c.T2715G:p.Y905X	.	591	592	298	41	0	380	0.242967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2438	0.2932	0.2713	0.2615	0.3746	0.2394	0.2372	0.1697	0.0005763	15	26028	rs879468063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	0.16586	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.361473	0.04047	T	-0.757008	0.03221	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	3.385426	0.46848	22.4	0.44838944251633817	0.03476	0.03038	0.07927	N	AEFI	.	.	.	.	.	.	.	.	.	1.13426159498125E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.166916	0.28634	1.25	0.017	0.13431	-0.091000	0.11111	-1.488000	0.05326	0.375000	0.20354	0.013000	0.18845	0.000000	0.08366	0.003000	0.05239	0.7855:0.0:0.2145:0.0	4.462	0.11093	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.323424	0.318182	0.331044	0.327434	0.333333	0.307018	0.349265	0.347107	0.5	20800.1	137	chr2	97513270	.	A	C	20800.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-0.107;DP=1138;ExcessHet=14.2834;FS=1.1;MLEAC=7;MLEAF=0.5;MQ=39.03;MQRankSum=-5.362;QD=18.37;ReadPosRankSum=-0.967;SOR=0.801	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:108,100:208:99:0|1:97513268_C_T:3833,0,4234:97513268	0	0	7	0
chr2	97513271	97513271	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2714G:p.Y905C	.	591	590	299	42	0	383	0.245042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2908	0.3387	0.3276	0.3085	0.4114	0.2887	0.2821	0.2034	0.0006531	17	26028	rs146893214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.56640	T	0.022	0.18677	B	0.002	0.06944	B	.	.	.	.	.	.	.	1.14	0.29013	L	.	.	.	.	.	.	0.149	0.51315	.	.	.	.	.	.	.	0.0020657778	0.00029	T	.	.	.	.	.	.	.	.	.	0.004479552258500605	0.00420	.	.	0.829705476761	0.86516	D	0.127676	0.45486	T	0.00706366	0.52624	T	-0.22763	0.52001	T	.	.	.	0.424058	0.11326	T	0.08367851	0.19332	0.12435671	0.29977	0.08367851	0.19332	0.12435671	0.29976	-3.342	0.14285	T	.	.	0.228	0.46049	B	.;.;.	.;.;.	2.163208	0.27562	17.50	0.45197924751744767	0.03530	0.10868	0.16248	N	AEFI	.	.	.	.	.	.	.	.	.	1.47313282737101E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.0933222	0.21027	1.25	1.25	0.20475	2.350000	0.43718	-0.293000	0.10176	0.334000	0.19664	0.983000	0.35670	0.000000	0.08366	0.004000	0.06068	0.0:0.2551:0.0:0.7449	3.086	0.05898	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.421021	0.365672	0.435440	0.398230	0.416667	0.385965	0.470588	0.438017	0.5	23472.1	137	chr2	97513271	.	T	C	23472.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-0.301;DP=1143;ExcessHet=14.2834;FS=1.103;MLEAC=7;MLEAF=0.5;MQ=39.04;MQRankSum=-5.362;QD=20.59;ReadPosRankSum=-0.917;SOR=0.786	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:108,101:209:99:0|1:97513268_C_T:3855,0,4231:97513268	0	0	7	0
chr2	97513281	97513281	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2704A:p.E902K	.	587	587	303	45	0	393	0.250798	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4801	0.5496	0.4874	0.4823	0.5076	0.4642	0.4639	0.4735	0.0017529	271	154602	rs5011473	3.077e-05	0.0002	3.34e-05	2.81e-05	0.0001	2.332e-05	2.077e-05	3.145e-05	1.671e-05	0.0001	0	0	0	0.0007	0	2.729e-06	0	0	0	9.135e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.094	0.41573	T	0.98	0.59353	D	0.855	0.60933	P	.	.	.	.	.	.	.	1.765	0.45800	L	.	.	.	.	.	.	0.208	0.65758	.	.	.	.	.	.	.	0.002158165	0.00031	T	.	.	.	.	.	.	.	.	.	0.03228563945784759	0.03176	.	.	0.789947628975	0.80434	T	0.190084	0.54451	T	0.0749938	0.61451	D	-0.130053	0.60967	T	.	.	.	0.733627	0.34942	T	0.02507305	0.01405	0.09507035	0.22531	0.02507305	0.01404	0.09507035	0.22530	-6.657	0.51486	T	.	.	0.139	0.30476	B	.;.;.	.;.;.	2.117809	0.26958	17.30	0.4037492673049709	0.02845	0.56632	0.30167	D	AEFI	.	.	.	.	.	.	.	.	.	1.05171682619281E-5	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.167599	0.28683	1.4	1.4	0.21393	3.749000	0.54867	0.048000	0.13961	-0.659000	0.04360	1.000000	0.71638	0.001000	0.17328	0.002000	0.04165	0.0:1.0:0.0:0.0	8.752	0.33786	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.529548	0.601351	0.515110	0.508696	0.416667	0.517241	0.552448	0.516393	0.5	23449.1	142	chr2	97513281	.	C	T	23449.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-0.063;DP=1159;ExcessHet=14.2834;FS=1.102;MLEAC=7;MLEAF=0.5;MQ=39.29;MQRankSum=-5.39;QD=20.41;ReadPosRankSum=-0.462;SOR=0.793	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:109,103:212:99:0|1:97513268_C_T:3880,0,4211:97513268	0	0	7	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	4532.09	85	chr2	97513354	.	T	C	4532.09	.	AC=7;AF=0.5;AN=14;BaseQRankSum=0.484;DP=650;ExcessHet=14.2834;FS=0;MLEAC=7;MLEAF=0.5;MQ=40.44;MQRankSum=-2.424;QD=7.23;ReadPosRankSum=0.855;SOR=0.702	GT:AD:DP:GQ:PL	0/1:97,24:121:99:305,0,2439	0	0	7	0
chr2	98826982	98826982	A	G	exonic	CRACDL	.	nonsynonymous SNV	CRACDL:NM_207362:exon6:c.T728C:p.L243P	.	.	.	.	.	.	.	.	.	.	.	3419819	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.167	0.0553193652922	.	.	5.085e-05	0	0	0	0	9.12e-05	0	0	3.88e-05	6	154602	rs757529019	2.466e-05	2.463e-05	1.772e-05	3.167e-05	0.0004	1.805e-05	1.602e-05	6.572e-05	2.662e-05	0	0	0.0002	0	0	0.0004	2.07e-05	8.296e-05	0	2.634e-05	2.628e-05	3.861e-05	1.349e-05	4.414e-05	8.16e-06	5.15e-06	1.172e-05	6.25e-06	0	0	0	0.0003	0	0	0	4.414e-05	0	0	0.127	0.27080	T	0.079	0.42086	T	1.0	0.90584	D	0.998	0.88582	D	0.001010	0.40652	N	0.000000	0.998864	0.45582	D	1.83	0.48079	L	0.62	0.53302	T	-3.22	0.64939	D	0.569	0.59223	-0.7237	0.59279	T	0.248	0.61716	T	10	0.4780695	0.60264	T	0.055319	0.66188	D	0.167	0.42761	0.235	0.16457	0.292062946507	0.28806	0.45277032313429405	0.45195	.	.	0.6070779562	0.53903	T	0.10723	0.41925	T	-0.128151	0.31797	T	-0.240945	0.50707	T	0.53087443113327	0.33766	D	0.687031	0.29593	T	0.49988446	0.67089	0.59477824	0.76477	0.49988446	0.67090	0.59477824	0.76478	-9.741	0.72347	D	.	.	0.573	0.67777	P	.	.	4.165239	0.62586	24.5	0.93832137134476834	0.23819	0.84077	0.43162	D	AEFDGBI	0.544415	0.55935	D	0.507387562651183	0.67525	5.093339	0.468956827338745	0.65944	4.888111	0.999999866537943	0.74766	0.516011	0.20929	0	0.59043	0.45803	0	0.577349	0.28860	0	0.613276	0.41899	0	.	.	5.05	5.05	0.67566	5.259000	0.65304	10.899000	0.84130	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	1.0:0.0:0.0:0.0	12.281	0.54083	550	0.72197	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	728.63	36	chr2	98826982	.	A	G	728.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.25;DP=228;ExcessHet=0;FS=3.043;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.87;ReadPosRankSum=-1.482;SOR=1.418	GT:AD:DP:GQ:PL	0/1:25,24:49:99:739,0,620	6	0	1	0
chr2	102192056	102192056	A	T	exonic	IL1RL2	.	nonsynonymous SNV	IL1RL2:NM_001351446:exon4:c.A425T:p.D142V,IL1RL2:NM_003854:exon4:c.A425T:p.D142V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.00625070239419	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.105	0.58089	T	0.1	0.25713	B	0.102	0.30857	B	0.439895	0.12640	N	0.762341	1	0.08975	N	1.285	0.32305	L	3.13	0.08014	T	-2.16	0.58085	N	0.485	0.51940	-0.9754	0.36037	T	0.017	0.06950	T	10	0.089834094	0.15596	T	0.006251	0.16406	T	0.043	0.11576	0.441	0.49648	0.343334270461	0.33943	0.6167522348254424	0.61607	0.284164264832	0.30844	0.25341039896	0.04136	T	0.055245	0.29952	T	-0.236891	0.15747	T	-0.578054	0.14719	T	0.163893103599548	0.18155	T	0.70083	0.34942	T	0.31347	0.54084	0.16326493	0.37883	0.31347	0.54084	0.16326493	0.37882	-3.798	0.20775	T	.	.	0.348	0.56462	A	.;.	.;.	-0.065793	0.03851	0.830	0.72967683365947245	0.10159	0.01726	0.05462	N	AEFGBI	0.070041	0.13889	N	-1.2561741370686	0.04219	0.1899821	-1.32424659916947	0.04119	0.1936064	0.999736597963869	0.42341	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.4	-2.75	0.05564	-1.129000	0.03356	-0.740000	0.07623	-2.097000	0.00396	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.406:0.142:0.452:0.0	6.475	0.21228	834	0.38640	Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	901.46	36	chr2	102192056	.	A	T	901.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.215;DP=254;ExcessHet=0;FS=3.17;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.86;ReadPosRankSum=0.432;SOR=0.393	GT:AD:DP:GQ:PL	0/1:36,40:76:99:912,0,900	6	0	1	0
chr2	106413119	106413119	A	G	exonic	RGPD3	.	nonsynonymous SNV	RGPD3:NM_001144013:exon22:c.T5231C:p.L1744P	.	574	909	32	7	0	46	0.0246781	.	.	.	2348696	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.151	0.00426816041692	.	.	.	.	.	.	.	.	.	.	0.0084524	220	26028	rs1200568186	0.0025	0.0050	0.0020	0.0030	0.0187	0.0024	0.0024	0.0153	0.0143	0.0009	0.0024	0.0082	0.0134	0.0008	0.0187	0.0010	0.0033	0.0153	0.0026	0.0052	0.0025	0.0027	0.0136	0.0024	0.0023	0.0108	0.0099	0.0010	0.0022	0.0019	0.0089	0.0122	9.475e-05	0.0326	0.0023	0.0044	0.0136	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.996073	0.43003	D	-2.725	0.00030	N	1.55	0.29866	T	1.13	0.01182	N	0.329	0.36989	-0.9554	0.40024	T	0.010	0.03811	T	9	0.0046307743	0.00097	T	0.004268	0.10341	T	0.151	0.39764	0.437	0.48993	0.0716867268079	0.06686	0.14579829350993453	0.14502	.	.	0.737386345863	0.72588	T	0.003952	0.03363	T	-0.573631	0.00211	T	-0.587363	0.13895	T	0.0109880224044707	0.00158	T	0.217878	0.02755	T	0.09037789	0.21146	0.12882335	0.30987	0.09037789	0.21146	0.12882335	0.30986	-1.181	0.01224	T	.	.	0.067	0.12655	B	.;.	.;.	2.755214	0.36121	20.2	0.058904364898830178	0.00016	0.01272	0.04451	N	AEFI	0.034858	0.04391	N	-1.52334207294121	0.01697	0.07427024	-1.31612094021418	0.04221	0.1986636	3.28424657957892E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.12	1.12	0.19700	5.667000	0.67736	9.785000	0.81617	-0.720000	0.03816	1.000000	0.71638	1.000000	0.68203	0.900000	0.43643	0.2062:0.0:0.7938:0.0	5.721	0.17255	915	0.20917	GRIP domain|GRIP domain|GRIP domain;GRIP domain|GRIP domain|GRIP domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.07143	105.63	36	chr2	106413119	.	A	G	105.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.14;DP=214;ExcessHet=0;FS=7.712;MLEAC=1;MLEAF=0.071;MQ=46.25;MQRankSum=-3.817;QD=2.71;ReadPosRankSum=-2.508;SOR=2.494	GT:AD:DP:GQ:PL	0/1:32,7:39:99:116,0,834	6	0	1	0
chr2	107838848	107838848	G	C	exonic	RGPD4	.	nonsynonymous SNV	RGPD4:NM_182588:exon4:c.G289C:p.V97L	.	448	1072	2	0	0	2	0.000931966	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.173	0.011685476419	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs199682509	0.0002	0.0006	0.0001	0.0003	0.0002	0.0002	0.0001	0.0002	0.0001	0.0001	3.247e-05	0	0	0.0007	0	0.0002	7.139e-05	2.914e-05	3.433e-05	0.0006	6.74e-05	0	7.092e-05	5.69e-06	2.13e-06	1.174e-05	4.39e-06	0	0	0	0	0	0	0	7.092e-05	0	0	0.189	0.21224	T	0.0	0.92824	D	0.953	0.54283	P	0.952	0.69102	D	.	.	.	.	0.563799	0.31235	N	1.79	0.46772	L	1.45	0.32482	T	-1.76	0.41618	N	0.703	0.70702	-0.7213	0.59399	T	0.168	0.50826	T	9	0.6842334	0.71464	D	0.011685	0.29546	T	0.173	0.43840	0.324	0.30549	0.139678290688	0.13603	0.036081625107658506	0.03555	.	.	0.866177856922	0.92018	D	0.021817	0.16927	T	-0.133532	0.30926	T	-0.388865	0.34683	T	0.422926038503647	0.29798	T	0.978136	0.92287	D	0.15606402	0.35239	0.17112438	0.39271	0.15606402	0.35239	0.17112438	0.39270	-5.243	0.39376	T	.	.	0.440	0.61715	A	.	.	3.795102	0.54648	23.5	0.986055800489953	0.43572	0.94729	0.62129	D	AEFI	0.577939	0.57934	D	0.309328752180608	0.56626	3.827632	0.171930680793968	0.48315	3.049108	0.0326634779244536	0.14066	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.48	2.48	0.29194	5.808000	0.68834	9.902000	0.82357	0.309000	0.19094	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:0.0:1.0:0.0	11.902	0.51974	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	.	.	.	.	.	.	.	.	0.07143	54.83	10	chr2	107838848	.	G	C	54.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.893;DP=157;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=27.12;MQRankSum=1.04;QD=5.48;ReadPosRankSum=-0.984;SOR=0.223	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:7,3:10:65:0|1:107838847_G_T:65,0,164:107838847	6	0	1	0
chr2	108259015	108259015	G	0	exonic	SULT1C3	.	.	.	.	441	128	465	180	308	1133	0.763182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	6150.48	116	chr2	108259015	.	G	*	6150.48	.	AC=10;AF=0.714;AN=14;DP=903;ExcessHet=0.3476;FS=0;MLEAC=10;MLEAF=0.714;MQ=60;QD=7.4;SOR=0.598	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,132:132:99:.:.:5892,400,0:.	0	3	4	0
chr2	112389310	112389310	T	G	exonic	RGPD5;RGPD8	.	nonsynonymous SNV	RGPD8:NM_001164463:exon20:c.A3635C:p.Q1212P,RGPD5:NM_005054:exon20:c.A3635C:p.Q1212P	.	125	1382	15	0	0	15	0.00539763	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.00558220074463	.	0.000599042	0.0026	0.0004	0.0007	0.0004	0.0005	0.0031	0.0049	0.0053	0.0020763	321	154602	rs542922444	0.0022	0.0022	0.0020	0.0023	0.0073	0.0021	0.0021	0.0052	0.0045	0.0002	0.0013	0.0050	0.0003	0.0004	0.0073	0.0021	0.0031	0.0042	0.0014	0.0015	0.0012	0.0016	0.0028	0.0012	0.0012	0.0022	0.0019	0.0005	0	0.0028	0.0038	0	0.0008	0.0070	0.0016	0.0030	0.0020	0.059	0.37966	T	0.284	0.35710	T	0.725	0.42448	P	0.258	0.39350	B	.	.	.	.	0.643084	0.32894	D	1.79	0.46772	L	1.07	0.39781	T	-2.65	0.56787	D	0.241	0.27197	-1.1110	0.02985	T	0.064	0.26527	T	9	0.0065084994	0.00147	T	0.005582	0.14409	T	0.133	0.36157	.	.	0.0551355673512	0.04727	0.07471785973446747	0.07407	.	.	0.61644756794	0.55226	T	0.017442	0.20717	T	-0.444781	0.01212	T	-0.462115	0.26369	T	0.0541511907940701	0.06215	T	0.917708	0.70434	D	0.39951164	0.60698	0.40196952	0.64693	0.39951164	0.60699	0.40196952	0.64693	-6.958	0.53727	T	.	.	0.145	0.31857	B	.;.	.;.	3.734810	0.53444	23.4	0.89138318660129967	0.18543	0.94121	0.60176	D	AEFI	0.837753	0.75535	D	-0.20777763912326	0.32814	1.854826	-0.217939098067901	0.30893	1.743393	3.24920566252506E-4	0.06540	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	2.3	2.3	0.27735	5.643000	0.67569	6.147000	0.54138	0.294000	0.18828	1.000000	0.71638	1.000000	0.68203	0.443000	0.27738	0.0:0.0:0.0:1.0	8.205	0.30609	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	0.003953	0.000000	0.005602	0.000000	0.000000	0.000000	0.003968	0.008929	0.1429	5283.24	35	chr2	112389310	.	T	G	5283.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.845;DP=703;ExcessHet=0.3476;FS=1.78;MLEAC=2;MLEAF=0.143;MQ=36.03;MQRankSum=0.086;QD=9.86;ReadPosRankSum=-0.138;SOR=0.866	GT:AD:DP:GQ:PL	0/1:141,122:263:99:2680,0,3225	5	0	2	0
chr2	113443854	113443854	G	A	exonic	CBWD2	.	nonsynonymous SNV	CBWD2:NM_001330336:exon3:c.G329A:p.C110Y,CBWD2:NM_001330337:exon3:c.G329A:p.C110Y,CBWD2:NM_172003:exon3:c.G329A:p.C110Y,CBWD2:NM_001330339:exon4:c.G221A:p.C74Y	.	459	1044	19	0	0	19	0.00901756	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.614	0.103116682965	.	.	0.0008	0	0	0	.	0.0012	0	0	2.59e-05	4	154602	rs200145218	0.0034	0.0046	0.0034	0.0034	0.0179	0.0033	0.0033	0.0149	0.0138	0.0007	0.0032	0.0034	0	0.0076	0.0179	0.0035	0.0032	0.0021	0.0026	0.0038	0.0023	0.0030	0.0043	0.0024	0.0023	0.0034	0.0031	0.0004	0.0236	0.0043	0.0024	0	0.0071	0.0141	0.0029	0.0035	0.0009	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.26	0.98092	H	0.45	0.56446	T	-10.04	0.98852	D	0.902	0.90251	0.289	0.87380	D	0.508	0.81503	D	10	0.24361351	0.41578	T	0.103117	0.77697	D	0.614	0.84932	.	.	0.599654944907	0.59646	0.5078442566509896	0.50706	.	.	0.858874857426	0.90944	D	0.427626	0.77704	T	0.308	0.83601	D	0.204788	0.83387	D	0.890385329723358	0.54119	D	0.999058	0.99576	D	0.9396918	0.95216	0.8888412	0.94186	0.9396918	0.95217	0.8888412	0.94186	-9.262	0.69368	D	.	.	0.984	0.95995	P	.;.;.	.;.;.	5.438484	0.90909	32	0.99599616731712604	0.74101	0.95228	0.63913	D	AEFI	0.775335	0.70878	D	0.879044043988155	0.90695	10.52251	0.681370157874719	0.80966	7.417813	0.721406329907596	0.22936	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	2.85	2.85	0.32333	8.628000	0.90746	8.539000	0.77485	0.318000	0.19305	1.000000	0.71638	1.000000	0.68203	0.458000	0.28074	0.0:0.0:1.0:0.0	11.531	0.49859	763	0.50172	CobW/HypB/UreG, nucleotide-binding domain;CobW/HypB/UreG, nucleotide-binding domain;CobW/HypB/UreG, nucleotide-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	.	.	.	.	.	.	.	.	0.1667	651.92	54	chr2	113443854	.	G	A	651.92	.	AC=2;AF=0.167;AN=12;BaseQRankSum=3.9;DP=265;ExcessHet=0.4139;FS=1.615;MLEAC=2;MLEAF=0.167;MQ=29.84;MQRankSum=1.2;QD=5.57;ReadPosRankSum=1.11;SOR=0.314	GT:AD:DP:GQ:PL	0/1:42,21:63:99:429,0,1042	4	0	2	1
chr2	130192015	130192015	C	T	exonic	TUBA3E	.	nonsynonymous SNV	TUBA3E:NM_207312:exon5:c.G1169A:p.R390H	.	0	1513	9	0	0	9	0.0029654	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.657	0.0520355668385	0.0012	0.00119808	0.0015	0.0007	0.0008	0	0.0011	0.0021	0.0022	0.0008	0.0012872	199	154602	rs142673044	0.0019	0.0019	0.0019	0.0019	0.0078	0.0018	0.0018	0.0060	0.0054	0.0005	0.0007	0.0037	0	0.0013	0.0078	0.0021	0.0020	0.0008	0.0011	0.0011	0.0013	0.0009	0.0018	0.0010	0.0010	0.0016	0.0015	0.0005	0	0.0001	0.0043	0.0004	0.0005	0	0.0018	0.0009	0.0006	.	.	.	0.108	0.37589	T	0.127	0.26966	B	0.118	0.32088	B	0.000132	0.49741	U	0.000000	0.999632	0.47961	D	2.915	0.84231	M	-1.75	0.83495	D	-3.42	0.67241	D	0.743	0.74280	0.187	0.85684	D	0.563	0.84114	D	10	0.047296613	0.04028	T	0.052036	0.64907	D	0.657	0.87135	.	.	0.89226095772	0.89119	0.4417820980022278	0.44095	.	.	0.584975838661	0.50787	T	0.635924	0.88775	D	-0.0973624	0.36862	T	0.0801055	0.75585	D	0.139245137572289	0.16209	T	0.876412	0.58869	D	0.7777611	0.82516	0.45426646	0.68266	0.7777611	0.82518	0.45426646	0.68267	-10.58	0.77305	D	.	.	0.098	0.16231	B	.	.	3.377084	0.46690	22.3	0.98954512059514055	0.49208	0.75489	0.36963	D	AEFGBCI	0.773566	0.70754	D	0.0694160194340757	0.45039	2.767328	0.0842266236580134	0.43755	2.670763	0.997762595797099	0.36002	0.009731	0.00075	3	0.514364	0.08380	0	0.514364	0.09456	0	0.714379	0.83352	0	.	.	2.96	2.96	0.33383	4.422000	0.59604	.	.	0.505000	0.23025	1.000000	0.71638	0.000000	0.08366	0.040000	0.14268	0.0:1.0:0.0:0.0	11.691	0.50780	982	0.03397	Tubulin/FtsZ, 2-layer sandwich domain|Tubulin/FtsZ, 2-layer sandwich 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	0.002643	0.005051	0.000000	0.004098	0.000000	0.000000	0.006098	0.000000	0.1429	2815.25	43	chr2	130192015	.	C	T	2815.25	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.23;DP=430;ExcessHet=0.3476;FS=0.475;MLEAC=2;MLEAF=0.143;MQ=43.38;MQRankSum=-0.419;QD=11.59;ReadPosRankSum=1.1;SOR=0.747	GT:AD:DP:GQ:PL	0/1:70,53:123:99:1224,0,1756	5	0	2	0
chr2	132645376	132645376	G	A	exonic	GPR39	.	nonsynonymous SNV	GPR39:NM_001508:exon2:c.G1132A:p.A378T	.	427	1086	8	1	0	10	0.00458295	.	.	.	215215	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.106	.	0.0091	0.00299521	0.0063	0.0012	0.0069	0	0.0014	0.0095	0.0078	0.0010	0.0064488	997	154602	rs61735719	0.0091	0.0091	0.0094	0.0088	0.0111	0.0090	0.0089	0.0101	0.0100	0.0014	0.0063	0.0286	0	0.0023	0.0111	0.0102	0.0101	0.0010	0.0064	0.0064	0.0063	0.0064	0.0091	0.0060	0.0059	0.0082	0.0080	0.0019	0	0.0091	0.0297	0	0.0019	0.0102	0.0088	0.0109	0.0008	0.464	0.08634	T	0.559	0.09144	T	0.112	0.26290	B	0.026	0.20792	B	0.000000	0.00162	N	9.583410	1	0.08975	N	1.59	0.40313	L	-0.0	0.62608	T	0.09	0.05917	N	0.085	0.06190	-1.0273	0.21331	T	0.086	0.33354	T	10	0.0032978952	0.00057	T	.	.	.	0.106	0.30130	.	.	0.185906805712	0.18197	0.17599505983418076	0.17518	0.317629529523	0.34004	0.216303244233	0.01107	T	0.051421	0.28873	T	-0.634894	0.00089	T	-0.673726	0.07372	T	0.00198395662676419	0.00020	T	0.346965	0.07635	T	0.030566081	0.02742	0.059936635	0.11332	0.030566081	0.02742	0.059936635	0.11331	-1.228	0.01291	T	0.14981847882614366	0.17548	0.066	0.02285	B	.	.	-0.362900	0.02354	0.256	0.9033183416194337	0.19597	0.13917	0.18123	N	AEFDBHCI	0.084354	0.17096	N	-1.45776017297196	0.02156	0.09491289	-1.57398874228423	0.01816	0.08269665	0.999738473075193	0.42341	0.706548	0.73137	0	0.573888	0.26702	0	0.616094	0.41390	0	0.714379	0.83352	0	.	.	4.23	-6.36	0.01796	-0.256000	0.08778	.	.	-0.153000	0.12021	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1566:0.2627:0.1281:0.4526	2.091	0.03435	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	0.005181	0.015152	0.002717	0.003497	0.050000	0.008621	0.009146	0.000000	0.07143	2435.44	33	chr2	132645376	.	G	A	2435.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.782;DP=391;ExcessHet=0;FS=0.534;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=-0.999;SOR=0.759	GT:AD:DP:GQ:PL	0/1:95,94:189:99:2446,0,2518	6	0	1	0
chr2	162268086	162268086	C	T	splicing	IFIH1	NM_022168:exon14:c.2807+1G>A	.	.	Aicardi-Goutieres syndrome 7, Autosomal dominant;Singleton-Merten syndrome 1, Autosomal dominant	425	1072	24	1	0	26	0.0119816	1.0000	0.938	YES	516567	Immunodeficiency_95|Aicardi-Goutieres_syndrome_7|Singleton-Merten_syndrome_1|not_provided|IFIH1-related_disorder	MONDO:MONDO:0030692,MedGen:C5676929,OMIM:619773|MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846,Orphanet:51|MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250,Orphanet:85191|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0054	0.0061901	0.0071	0.0014	0.0039	0.0026	0.0017	0.0083	0.0093	0.0133	0.0068563	1060	154602	rs35732034	0.0089	0.0089	0.0087	0.0090	0.0206	0.0087	0.0087	0.0194	0.0189	0.0013	0.0031	0.0105	0.0206	0.0020	0.0071	0.0090	0.0079	0.0118	0.0054	0.0054	0.0059	0.0049	0.0101	0.0051	0.0050	0.0079	0.0072	0.0015	0	0.0035	0.0084	0.0079	0.0018	0.0068	0.0080	0.0085	0.0101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123313	0.66703	D	0.414742	0.92577	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	5.421348	0.90701	31	0.99538050422870605	0.70336	0.99640	0.98249	D	AEFBI	.	.	.	1.11613391741329	0.98421	18.23353	0.94565821059137	0.97272	15.85643	0.999999999312529	0.74766	0.295142	0.05270	0	0.30413	0.05452	0	0.063197	0.01477	0	0.092715	0.02821	0	0.978623	0.82860	4.74	4.74	0.59717	7.284000	0.78011	7.597000	0.61435	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	18.077	0.89359	405	0.82444	.;.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1044.46	33	chr2	162268086	.	C	T	1044.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.214;DP=270;ExcessHet=0;FS=0.85;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.23;ReadPosRankSum=-1.124;SOR=0.555	GT:AD:DP:GQ:PL	0/1:49,44:93:99:1055,0,1240	6	0	1	0
chr2	166416783	166416783	T	G	exonic	SCN7A	.	nonsynonymous SNV	SCN7A:NM_002976:exon21:c.A3338C:p.N1113T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.328	0.0708748144272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.535	0.06913	T	0.694	0.05844	T	0.018	0.17786	B	0.023	0.19966	B	0.018368	0.27499	N	0.266752	0.999689	0.20694	N	0.475	0.13142	N	-4.89	0.98313	D	-0.37	0.13226	N	0.568	0.59138	-0.0301	0.81628	T	0.763	0.91922	D	10	0.15682095	0.29527	T	0.070875	0.71119	D	0.328	0.65026	0.288	0.24761	0.751694653358	0.74944	0.29979668720139063	0.29892	0.131538057239	0.14834	0.491269052029	0.37615	T	0.577513	0.86112	D	0.0315856	0.55935	T	-0.192406	0.55365	T	0.119034133851528	0.14335	T	0.544146	0.18565	T	0.075715765	0.17078	0.06796038	0.14129	0.075715765	0.17077	0.06796038	0.14129	-4.542	0.31434	T	.	.	0.157	0.34624	B	.;.;.;.;.	.;.;.;.;.	2.141509	0.27274	17.41	0.74733894963634362	0.10806	0.42773	0.26952	N	AEFI	0.382126	0.46413	N	-0.69218082796424	0.16242	0.8258502	-0.566334401418746	0.20373	1.097364	0.00277259170587558	0.09698	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.87	3.69	0.41483	0.515000	0.22507	2.864000	0.35221	0.660000	0.55035	0.045000	0.21207	1.000000	0.68203	0.349000	0.25636	0.0:0.0912:0.0:0.9088	8.897	0.34629	631	0.64944	Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	935.63	33	chr2	166416783	.	T	G	935.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.279;DP=290;ExcessHet=0;FS=3.58;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8;ReadPosRankSum=-1.413;SOR=0.428	GT:AD:DP:GQ:PL	0/1:73,44:117:99:946,0,1840	6	0	1	0
chr2	169225440	169225440	C	T	exonic	LRP2	.	nonsynonymous SNV	LRP2:NM_004525:exon33:c.G5408A:p.R1803K	Donnai-Barrow syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1437881	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.497	0.0846820825563	.	.	3.297e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs750182031	1.916e-05	1.915e-05	1.089e-05	2.75e-05	0.0003	1.328e-05	1.144e-05	0.0002	0.0002	0	0	0	0	0	0	0	1.656e-05	0.0003	6.57e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.375	0.11370	T	0.321	0.19073	T	0.914	0.50529	P	0.45	0.46092	P	0.000000	0.84330	D	0.090226	1	0.81001	D	2.25	0.63811	M	-2.91	0.91696	D	-1.29	0.32387	N	0.388	0.42931	0.309	0.87694	D	0.719	0.90364	D	10	0.3028852	0.47823	T	0.084682	0.74376	D	0.497	0.78163	0.435	0.48664	0.756063168228	0.75384	0.9086752229041608	0.90841	0.383503995499	0.39674	0.606099903584	0.53766	T	0.147323	0.48536	T	-0.123286	0.32588	T	-0.140569	0.60069	T	0.255292941218448	0.23108	T	0.763624	0.39028	T	0.32728723	0.55248	0.38671166	0.63556	0.32728723	0.55248	0.38671166	0.63556	-8.099	0.61744	D	0.4497003714453352	0.53373	0.154	0.34138	B	.;.	.;.	3.682788	0.52433	23.2	0.97105385960870638	0.32387	0.94208	0.60442	D	AEFHCI	0.842543	0.75965	D	0.442063552687145	0.63752	4.615339	0.519633650005015	0.69311	5.342473	0.999999999999936	0.74766	0.533608	0.22052	0	0.573888	0.26702	0	0.685742	0.62368	0	0.542086	0.14980	0	.	.	5.69	5.69	0.88346	6.175000	0.71875	5.917000	0.51107	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.810	0.96539	871	0.31377	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	352.63	29	chr2	169225440	.	C	T	352.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.375;DP=159;ExcessHet=0;FS=3.834;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.33;ReadPosRankSum=0.093;SOR=1.015	GT:AD:DP:GQ:PL	0/1:10,13:23:99:363,0,242	6	0	1	0
chr2	175995602	175995602	T	C	exonic	LNPK	.	nonsynonymous SNV	LNPK:NM_001305008:exon2:c.A176G:p.Q59R,LNPK:NM_001305010:exon2:c.A176G:p.Q59R	.	.	.	.	.	.	.	.	.	.	.	3218397	LNPK-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.023	.	0.0015	0.00179712	0.0003	0.0036	0.0003	0	0	0	0	0	0.0003169	49	154602	rs375567653	0.0001	0.0001	0.0001	0.0001	0.0037	0.0001	9.784e-05	0.0032	0.0030	0.0037	0.0003	0	0	0	0	1.816e-06	0.0005	0	0.0012	0.0011	0.0012	0.0011	0.0039	0.0010	0.0010	0.0034	0.0032	0.0039	0	0.0007	0	0	0	0	0	0.0019	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.08333	957.27	37	chr2	175995602	.	T	C	957.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.703;DP=263;ExcessHet=0;FS=0.802;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11;ReadPosRankSum=1.3;SOR=0.821	GT:AD:DP:GQ:PL	0/1:41,46:87:99:967,0,895	5	0	1	1
chr2	178549450	178549450	G	A	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon167:c.C64981T:p.P21661S,TTN:NM_133432:exon168:c.C65356T:p.P21786S,TTN:NM_133437:exon168:c.C65557T:p.P21853S,TTN:NM_133378:exon288:c.C84472T:p.P28158S,TTN:NM_001256850:exon289:c.C87253T:p.P29085S,TTN:NM_001267550:exon339:c.C92176T:p.P30726S	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	1505	14	2	0	18	0.00594452	.	.	YES	56684	Cardiomyopathy|Supraventricular_tachycardia|Hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1G|Cardiovascular_phenotype|not_provided|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Early-onset_myopathy_with_fatal_cardiomyopathy|Tip-toe_gait|Dilated_Cardiomyopathy,_Dominant|TTN-related_myopathy|Limb-girdle_muscular_dystrophy,_recessive|TTN-related_disorder|not_specified|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Tibial_muscular_dystrophy	Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|Human_Phenotype_Ontology:HP:0004755,MedGen:C0039240|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:CN230736|MedGen:C3661900|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144|MedGen:CN239310|MONDO:MONDO:0100175,MedGen:CN294812|MedGen:CN239352|.|MedGen:CN169374|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.520	0.0713444663686	0.0017	0.00199681	0.0025	0.0001	0.0007	0	0.0012	0.0030	0.0022	0.0049	0.0024838	384	154602	rs72648247	0.0027	0.0027	0.0027	0.0028	0.0068	0.0027	0.0026	0.0051	0.0047	0.0005	0.0009	0.0044	0	0.0012	0.0068	0.0028	0.0021	0.0052	0.0020	0.0020	0.0018	0.0022	0.0058	0.0018	0.0017	0.0041	0.0036	0.0004	0	0.0007	0.0026	0	0.0018	0.0136	0.0031	0.0019	0.0058	0.005	0.63226	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	1	0.81001	D	4.235	0.97980	H	0.36	0.57880	T	-5.85	0.93440	D	0.455	0.66787	0.361	0.88502	D	0.542	0.83122	D	9	0.008055747	0.00183	T	0.071344	0.71244	D	0.520	0.79583	.	.	0.455081427078	0.45129	.	.	0.466644225527	0.46063	0.615165174007	0.55046	T	.	.	.	-0.30756	0.07964	T	-0.21223	0.53482	T	0.0791858763826152	0.09881	T	0.889011	0.62852	D	.	.	.	.	.	.	.	.	-9.857	0.73051	D	.	.	0.980	0.91161	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.775189	0.36435	20.2	0.91061175991936283	0.20313	0.99413	0.95711	D	AEFBI	0.909721	0.86672	D	1.04884838020579	0.97063	15.53342	0.936449665253666	0.96974	15.40516	0.999999999999984	0.74766	0.554377	0.28877	0	0.546412	0.12157	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.73	5.73	0.89730	8.146000	0.89551	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.807000	0.38039	0.0:0.0:1.0:0.0	20.279	0.98503	520	0.74355	.;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.005539	0.005051	0.002717	0.002924	0.050000	0.000000	0.009146	0.007576	0.07143	1504.63	35	chr2	178549450	.	G	A	1504.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.324;DP=402;ExcessHet=0;FS=1.482;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.49;ReadPosRankSum=0.485;SOR=0.519	GT:AD:DP:GQ:PL	0/1:74,57:131:99:1515,0,1996	6	0	1	0
chr2	178664014	178664014	C	G	splicing	TTN	NM_001267550:exon169:c.36364+1G>C	.	.	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	4	1517	1	0	0	1	0.000329489	1.0000	0.946	YES	1923586	Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Dilated_cardiomyopathy_1G|not_provided	MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	2.598e-05	0	0	0.0004	0	0	0	0	1.94e-05	3	154602	rs777040601	3.012e-05	3.01e-05	3.405e-05	2.614e-05	0.0009	2.283e-05	2.033e-05	0.0007	0.0006	0	8.95e-05	0	0.0009	0	0	8.995e-07	3.314e-05	0	6.58e-06	6.569e-06	0	1.347e-05	6.568e-05	0	0	.	.	0	0	6.568e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0417673	0.57277	T	0.131087	0.78962	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.396386	0.47047	22.4	0.97431724109905393	0.33931	0.95467	0.64837	D	AEFBI	.	.	.	0.903299589625438	0.91920	11.13562	0.709429309844885	0.83095	7.932574	0.227537235761436	0.18428	0.074636	0.01641	0	0.084543	0.02171	0	0.063197	0.01477	0	0.057018	0.00518	0	0.964171	0.67635	5.28	5.28	0.74118	0.078000	0.14615	.	.	0.599000	0.40250	0.040000	0.20979	1.000000	0.68203	0.350000	0.25659	0.0:0.8678:0.1322:0.0	16.297	0.82611	419	0.81524	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.07143	892.63	37	chr2	178664014	.	C	G	892.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.548;DP=245;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.75;ReadPosRankSum=-0.135;SOR=0.693	GT:AD:DP:GQ:PL	0/1:35,35:70:99:903,0,936	6	0	1	0
chr2	178684980	178684980	G	A	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon127:c.C28748T:p.A9583V,TTN:NM_001256850:exon128:c.C31529T:p.A10510V,TTN:NM_001267550:exon130:c.C32480T:p.A10827V	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	1517	4	0	0	4	0.00131666	.	.	.	56033	Tibial_muscular_dystrophy|Early-onset_myopathy_with_fatal_cardiomyopathy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Dilated_cardiomyopathy_1G|Cardiomyopathy|not_specified|TTN-related_disorder|not_provided	MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN169374|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.100	0.0194785168333	0.0016	0.000798722	0.0024	0.0002	0.0005	0	0.0006	0.0042	0	0.0010	0.0016106	249	154602	rs72650030	0.0021	0.0021	0.0021	0.0020	0.0033	0.0020	0.0020	0.0024	0.0024	0.0004	0.0003	0.0010	0	0.0002	0.0033	0.0025	0.0013	0.0010	0.0013	0.0013	0.0013	0.0013	0.0025	0.0012	0.0011	0.0022	0.0021	0.0004	0	0.0003	0.0009	0	9.429e-05	0	0.0025	0.0009	0.0012	0.773	0.03354	T	.	.	.	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.999999	0.58761	D	.	.	.	-0.07	0.63738	T	-0.68	0.19509	N	0.062	0.08088	-1.0753	0.08287	T	0.086	0.33382	T	9	0.004187286	0.00083	T	0.019479	0.41853	T	0.100	0.28662	.	.	0.158396225186	0.15383	.	.	0.0831900980906	0.09381	0.292435526848	0.09278	T	.	.	.	-0.525139	0.00410	T	-0.524768	0.19813	T	0.0110077593060059	0.00159	T	0.592841	0.28377	T	.	.	.	.	.	.	.	.	-1.375	0.01601	T	.	.	0.082	0.08851	B	.;.;.;.	.;.;.;.	2.063001	0.26232	17.04	0.95815316458911215	0.27896	0.32983	0.24718	N	AEFBI	0.094928	0.19187	N	-0.553443693941343	0.20376	1.073672	-0.372022992503651	0.25835	1.423	1.49686597091072E-4	0.05573	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.81	2.08	0.26079	0.804000	0.26758	.	.	0.676000	0.76740	0.994000	0.38300	1.000000	0.68203	0.999000	0.91618	0.4318:0.0:0.4404:0.1278	5.454	0.15876	390	0.83257	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000505	0.000000	0.000000	0.000000	0.050000	0.000000	0.000000	0.000000	0.07143	1053.45	35	chr2	178684980	.	G	A	1053.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.434;DP=309;ExcessHet=0;FS=0.692;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.78;ReadPosRankSum=0.627;SOR=0.591	GT:AD:DP:GQ:PL	0/1:72,48:120:99:1064,0,1702	6	0	1	0
chr2	178734746	178734746	C	G	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon48:c.G11446C:p.V3816L,TTN:NM_001256850:exon49:c.G14227C:p.V4743L,TTN:NM_001267550:exon51:c.G15178C:p.V5060L	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	0	1485	34	3	0	40	0.013289	.	.	.	55764	Supraventricular_tachycardia|Early-onset_myopathy_with_fatal_cardiomyopathy|Dilated_cardiomyopathy_1G|not_provided|not_specified|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Tip-toe_gait|TTN-related_myopathy|Cardiomyopathy|Tibial_muscular_dystrophy|Cardiovascular_phenotype	Human_Phenotype_Ontology:HP:0004755,MedGen:C0039240|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144|MONDO:MONDO:0100175,MedGen:CN294812|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.236	.	0.0028	0.00339457	0.0035	0.0003	0.0006	0	0.0014	0.0039	0.0045	0.0086	0.0034864	539	154602	rs72648929	0.0033	0.0033	0.0031	0.0034	0.0099	0.0032	0.0032	0.0079	0.0077	0.0005	0.0007	0.0097	0.0001	0.0013	0.0099	0.0031	0.0032	0.0084	0.0024	0.0023	0.0022	0.0026	0.0089	0.0022	0.0021	0.0068	0.0061	0.0004	0	0.0006	0.0095	0.0004	0.0019	0	0.0034	0.0024	0.0089	0.586	0.05881	T	.	.	.	0.708	0.42036	P	0.387	0.44046	B	.	.	.	.	0.878587	0.81001	D	.	.	.	-0.26	0.67187	T	-1.27	0.31981	N	0.152	0.18920	-0.5974	0.64923	T	0.234	0.60112	T	9	0.0074189305	0.00169	T	.	.	.	0.236	0.53931	.	.	0.366085729538	0.36220	.	.	0.193963078417	0.21732	0.489897310734	0.37424	T	.	.	.	-0.406531	0.02097	T	-0.351743	0.39005	T	0.0429511013410394	0.04229	T	0.818618	0.50455	T	.	.	.	.	.	.	.	.	-4.406	0.29921	T	.	.	0.395	0.59302	A	.;.;.;.	.;.;.;.	2.461362	0.31708	18.82	0.45163212625536364	0.03525	0.98803	0.87055	D	AEFBI	0.817956	0.73932	D	0.12769802415775	0.47759	2.997087	0.163325034344203	0.47853	3.009335	0.999999999999971	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.67	5.67	0.87673	6.166000	0.71739	.	.	0.599000	0.40250	1.000000	0.71638	0.998000	0.33993	0.332000	0.25247	0.0:1.0:0.0:0.0	19.757	0.96293	341	0.85936	.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	6814.44	36	chr2	178734746	.	C	G	6814.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.4;DP=835;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.13;ReadPosRankSum=-0.666;SOR=0.647	GT:AD:DP:GQ:PL	0/1:326,286:612:99:6825,0,7420	6	0	1	0
chr2	178776739	178776739	G	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon27:c.C4987G:p.L1663V,TTN:NM_133432:exon27:c.C4987G:p.L1663V,TTN:NM_133437:exon27:c.C4987G:p.L1663V,TTN:NM_001256850:exon28:c.C5125G:p.L1709V,TTN:NM_001267550:exon28:c.C5125G:p.L1709V,TTN:NM_133378:exon28:c.C5125G:p.L1709V,TTN:NM_133379:exon28:c.C5125G:p.L1709V	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.414	0.0147726489888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.56456	D	0.0	0.92824	D	0.999	0.90584	D	0.998	0.88582	D	.	.	.	.	0.989898	0.41045	D	.	.	.	-0.66	0.72348	T	-2.23	0.58896	N	0.345	0.64052	0.020	0.82663	D	0.536	0.82820	D	9	0.36435875	0.52983	T	0.014773	0.35101	T	0.414	0.72479	0.465	0.53566	0.662473173981	0.65964	.	.	0.465770963553	0.46000	0.717854857445	0.69733	T	.	.	.	-0.0103844	0.50212	T	-0.252693	0.49552	T	0.333222288417017	0.26354	T	0.916808	0.71149	D	.	.	.	.	.	.	.	.	-8.213	0.66927	D	.	.	0.608	0.69190	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.539940	0.49714	22.8	0.88723039728343223	0.18203	0.98108	0.79665	D	AEFBI	0.903450	0.85255	D	0.794725804563912	0.85775	8.677712	0.768167274864971	0.87509	9.246127	0.999999279517527	0.74766	0.516011	0.20929	0	0.546412	0.12157	0	0.573888	0.23631	0	0.586402	0.36253	0	.	.	5.34	5.34	0.75982	6.709000	0.74487	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:0.0:1.0:0.0	19.049	0.93018	345	0.85689	.;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	122.72	34	chr2	178776739	.	G	C	122.72	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-2.384;DP=441;ExcessHet=1.383;FS=157.805;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=0.4;ReadPosRankSum=1.69;SOR=7.701	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:83,12:95:58:0|1:178776739_G_C:58,0,3235:178776739	3	0	3	1
chr2	178776741	178776741	T	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon27:c.A4985G:p.K1662R,TTN:NM_133432:exon27:c.A4985G:p.K1662R,TTN:NM_133437:exon27:c.A4985G:p.K1662R,TTN:NM_001256850:exon28:c.A5123G:p.K1708R,TTN:NM_001267550:exon28:c.A5123G:p.K1708R,TTN:NM_133378:exon28:c.A5123G:p.K1708R,TTN:NM_133379:exon28:c.A5123G:p.K1708R	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.442	0.0136192503203	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1227799317	0	2.737e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.35349	T	0.009	0.66756	D	0.999	0.90584	D	0.996	0.88582	D	.	.	.	.	0.995762	0.42845	D	.	.	.	-0.48	0.70249	T	-2.2	0.56466	N	0.33	0.57775	0.040	0.83044	D	0.438	0.77746	T	9	0.3327809	0.50479	T	0.013619	0.33161	T	0.442	0.74518	0.521	0.62368	0.471456661759	0.46775	.	.	0.423302696435	0.42799	0.685460805893	0.65053	T	.	.	.	-0.0238045	0.48310	T	-0.27197	0.47620	T	0.50076264678834	0.32657	D	0.962404	0.87125	D	.	.	.	.	.	.	.	.	-4.051	0.24564	T	.	.	0.170	0.37312	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.446323	0.47969	22.5	0.94628464954974423	0.25214	0.98026	0.78979	D	AEFBI	0.959721	0.98018	D	0.677938488336037	0.78186	6.821307	0.685804443953441	0.81302	7.494664	0.999999986742244	0.74766	0.516011	0.20929	0	0.546412	0.12157	0	0.573888	0.23631	0	0.586402	0.36253	0	.	.	5.34	5.34	0.75982	7.956000	0.87398	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.0:0.0:0.0:1.0	15.325	0.73860	345	0.85689	.;.;Immunoglobulin I-set|Immunoglobulin-like domain;Immunoglobulin I-set|Immunoglobulin-like domain;.;Immunoglobulin I-set|Immunoglobulin-like domain;Immunoglobulin I-set|Immunoglobulin-like domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	49.14	34	chr2	178776741	.	T	C	49.14	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-2.963;DP=363;ExcessHet=0;FS=41.476;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.54;ReadPosRankSum=0.935;SOR=5.133	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:83,8:95:58:0|1:178776739_G_C:58,0,3235:178776739	4	0	1	2
chr2	186504215	186504215	G	C	splicing	ZC3H15	NM_018471:exon6:c.717+1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0056	0.0007	0.0006	0.0009	0.0006	0.0006	0.0007	0.0007	0.0006	9.356e-05	0.0004	0.0002	0.0001	0.0009	0.0008	0.0006	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.300962	0.83045	D	0.194535	0.82825	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.169298	0.96223	35	0.9948224112750832	0.66959	0.99140	0.91816	D	ALL	.	.	.	1.14176403290314	0.98836	19.55828	0.977087065195557	0.98133	17.50421	1.0	0.98316	0.17398	0.03958	1	0.011162	0.00042	3	0.199235	0.04519	0	0.113624	0.03431	2	0.984412	0.91620	5.01	5.01	0.66477	9.889000	0.98569	11.679000	0.94198	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:0.0:1.0:0.0	18.684	0.91518	410	0.82135	.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4	384.26	23	chr2	186504215	.	G	C	384.26	.	AC=4;AF=0.4;AN=10;BaseQRankSum=0.85;DP=183;ExcessHet=4.1913;FS=59.582;MLEAC=5;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.43;ReadPosRankSum=1.3;SOR=6.375	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:6,15:21:17:.:.:173,0,17:.	1	0	4	2
chr2	196242133	196242133	A	G	exonic	HECW2	.	nonsynonymous SNV	HECW2:NM_001304840:exon18:c.T2533C:p.Y845H,HECW2:NM_001348768:exon20:c.T3601C:p.Y1201H,HECW2:NM_020760:exon20:c.T3601C:p.Y1201H	Neurodevelopmental disorder with hypotonia, seizures, and absent language, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.819	0.0865938395852	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.35537	T	0.099	0.38891	T	0.999	0.77913	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.485	0.72352	M	-2.02	0.85542	D	-4.81	0.80767	D	0.773	0.77039	0.377	0.88753	D	0.689	0.89250	D	10	0.8511987	0.84299	D	0.086594	0.74767	D	0.819	0.94200	0.453	0.51612	0.930168801304	0.92945	0.8807909437711311	0.88047	1.90672902436	0.92870	0.926575958729	0.98782	D	0.303969	0.67629	T	0.415736	0.90795	D	0.359399	0.90680	D	0.99257481098175	0.83089	D	0.963704	0.86510	D	0.5766698	0.71426	0.42218065	0.66127	0.5766698	0.71427	0.42218065	0.66127	-12.147	0.85560	D	0.3571455389140581	0.45391	0.973	0.89889	P	.;.;.;.	.;.;.;.	4.493136	0.70201	25.5	0.9987884527982559	0.95572	0.94765	0.62252	D	AEGBCIJ	0.932330	0.92253	D	0.702914353799696	0.79822	7.159928	0.679143890144947	0.80797	7.379685	0.999999999999745	0.74766	0.730579	0.87903	0	0.749866	0.99406	0	0.618467	0.43123	0	0.723	0.93126	0	.	.	4.75	4.75	0.59954	9.325000	0.96006	11.223000	0.89837	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	14.415	0.66714	862	0.33134	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.07143	1010.46	34	chr2	196242133	.	A	G	1010.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.22;DP=268;ExcessHet=0;FS=0.855;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.12;ReadPosRankSum=-0.756;SOR=0.83	GT:AD:DP:GQ:PL	0/1:36,41:77:99:1021,0,820	6	0	1	0
chr2	197523648	197523648	T	C	exonic	HSPE1-MOB4;MOB4	.	nonsynonymous SNV	MOB4:NM_015387:exon2:c.T85C:p.S29P,HSPE1-MOB4:NM_001202485:exon3:c.T193C:p.S65P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.267	0.00959765325218	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.265e-05	0.0013	8.89e-05	9.642e-05	0.0001	7.932e-05	7.455e-05	9.055e-05	8.505e-05	3.135e-05	0	0.0001	0	0	0	0.0001	8.651e-05	8.389e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.579	0.08535	T	0.0	0.02946	B	0.001	0.04355	B	0.000000	0.84330	D	0.053972	0.999993	0.81001	D	-1.795	0.00292	N	.	.	.	1.18	0.01107	N	0.438	0.48042	-0.9766	0.35772	T	0.034	0.14813	T	9	0.10651526	0.19742	T	0.009598	0.25107	T	0.267	0.58126	0.341	0.33302	0.043077524339	0.03247	0.669975451478545	0.66935	1.34794577022	0.84014	0.778468906879	0.78697	T	0.055673	0.30073	T	0.0500577	0.58352	T	-0.165872	0.57820	T	0.811242938041687	0.47136	D	0.892711	0.63097	D	0.20700711	0.42893	0.20881961	0.45200	0.20700711	0.42893	0.20881961	0.45199	-0.876	0.00872	T	.	.	0.084	0.09820	B	.;.	.;.	3.297964	0.45264	22.1	0.8980768734361223	0.19119	0.98559	0.84088	D	AEFBI	0.838587	0.75609	D	-0.516315308048682	0.21553	1.144632	-0.200201322439165	0.31530	1.785231	0.986724794269661	0.31114	0.732398	0.92422	0	0.724815	0.89359	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.02	5.02	0.66742	5.652000	0.67632	7.608000	0.61804	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.399	0.66596	474	0.77851	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	722.27	43	chr2	197523648	.	T	C	722.27	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.41;DP=335;ExcessHet=11.5949;FS=543.859;MLEAC=7;MLEAF=0.583;MQ=60;MQRankSum=0;QD=2.18;ReadPosRankSum=1.46;SOR=9.507	GT:AD:DP:GQ:PL	0/1:41,23:64:99:150,0,555	0	0	6	1
chr2	199963803	199963803	T	A	exonic	MAIP1	.	nonsynonymous SNV	MAIP1:NM_024520:exon6:c.T868A:p.L290I	.	436	1061	24	1	0	26	0.0121043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	.	0.0075	0.00399361	0.0082	0.0021	0.0057	0	0.0037	0.0126	0.0147	0.0020	0.0081241	1256	154602	rs2118548	0.0098	0.0098	0.0098	0.0097	0.0166	0.0096	0.0096	0.0139	0.0129	0.0018	0.0068	0.0162	0	0.0044	0.0166	0.0112	0.0098	0.0014	0.0066	0.0066	0.0070	0.0063	0.0100	0.0063	0.0062	0.0094	0.0092	0.0018	0	0.0090	0.0161	0	0.0024	0.0136	0.0100	0.0123	0.0012	0.444	0.09155	T	0.246	0.23984	T	0.946	0.53363	P	0.619	0.51356	P	0.011281	0.29587	N	0.275015	0.55019	0.32126	D	.	.	.	0.52	0.55266	T	-0.04	0.07590	N	0.164	0.17828	-0.9537	0.40327	T	0.060	0.25273	T	10	0.006497383	0.00147	T	.	.	.	0.121	0.33580	.	.	0.415055319159	0.41122	0.3126203708908645	0.31175	0.745710789509	0.63506	.	.	.	0.020983	0.16419	T	-0.568858	0.00225	T	-0.578871	0.14646	T	0.0269243499581603	0.01533	T	0.465653	0.13651	T	0.026914597	0.01810	0.02722219	0.00861	0.026914597	0.01809	0.02722219	0.00860	-4.215	0.26968	T	.	.	0.261	0.50398	B	.;.	.;.	2.021321	0.25690	16.85	0.9833744055686604	0.40408	0.74941	0.36673	D	AEFBI	0.229736	0.35321	N	-0.362530873133364	0.26816	1.466363	-0.335764691557229	0.26953	1.492298	0.102570027400585	0.16419	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	6.05	-0.298	0.12179	-0.111000	0.10778	-0.972000	0.06742	-0.108000	0.15293	0.646000	0.28137	0.006000	0.19429	0.981000	0.58702	0.1308:0.3356:0.0:0.5335	4.945	0.13334	600	0.68026	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.023185	0.045918	0.028533	0.017544	0.000000	0.025862	0.018293	0.007576	0.07143	574.49	22	chr2	199963803	.	T	A	574.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.115;DP=203;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=0.642;SOR=0.551	GT:AD:DP:GQ:PL	0/1:21,26:47:99:585,0,487	6	0	1	0
chr2	201639004	201639004	T	C	exonic	TMEM237	.	nonsynonymous SNV	TMEM237:NM_001044385:exon3:c.A121G:p.T41A,TMEM237:NM_152388:exon3:c.A97G:p.T33A	Joubert syndrome 14, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.00449771407059	.	.	0.0001	0	0	0.0019	0	0	0	0	2.59e-05	4	154602	rs772018656	9.777e-06	1.026e-05	1.245e-05	7.054e-06	0.0003	5.67e-06	4.44e-06	0.0002	0.0001	0	0	0	0.0003	0	0	0	3.364e-05	0	1.314e-05	1.313e-05	1.285e-05	1.345e-05	0.0004	2.18e-06	8.2e-07	6.811e-05	2.851e-05	0	0	0	0	0.0004	0	0	0	0	0	0.338	0.13610	T	0.93	0.03652	T	.	.	.	.	.	.	0.440442	0.12634	N	0.762762	0.999966	0.18878	N	1.01	0.25309	L	1.05	0.39990	T	-0.27	0.11366	N	0.084	0.06059	-1.0180	0.24366	T	0.059	0.24575	T	10	0.0106996	0.00237	T	0.004498	0.11063	T	0.045	0.12272	.	.	0.0482279557977	0.04254	0.057957202544347344	0.05736	0.0390013711377	0.04153	0.315768450499	0.12780	T	0.002103	0.11022	T	-0.567753	0.00228	T	-0.676261	0.07214	T	0.194116830825806	0.20084	T	0.491951	0.15143	T	0.032095544	0.03170	0.029830338	0.01366	0.032095544	0.03170	0.029830338	0.01366	-3.476	0.17039	T	0.1017370110439488	0.07654	0.070	0.03588	B	.;.;.	.;.;.	1.161443	0.15504	11.90	0.70580487861937147	0.09342	0.28004	0.23435	N	AEFBI	0.020567	0.00825	N	-0.750935332774792	0.14608	0.7290945	-0.724746021999737	0.16345	0.8642422	0.976743100486456	0.29754	0.706298	0.61202	0	0.709663	0.81188	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.79	-4.34	0.03412	-0.178000	0.09775	.	.	0.665000	0.62972	0.956000	0.33378	0.005000	0.19230	0.957000	0.51019	0.1104:0.3421:0.3787:0.1689	3.673	0.07815	529	0.73716	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	871.49	34	chr2	201639004	.	T	C	871.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.196;DP=251;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.32;ReadPosRankSum=-0.336;SOR=0.646	GT:AD:DP:GQ:PL	0/1:39,38:77:99:882,0,958	6	0	1	0
chr2	205121734	205121734	A	G	exonic	PARD3B	.	nonsynonymous SNV	PARD3B:NM_001302769:exon8:c.A950G:p.K317R,PARD3B:NM_057177:exon8:c.A950G:p.K317R,PARD3B:NM_152526:exon8:c.A950G:p.K317R,PARD3B:NM_205863:exon8:c.A950G:p.K317R	.	427	1054	38	3	0	44	0.0204461	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	.	0.0077	0.00399361	0.0100	0.0018	0.0079	0.0001	0.0194	0.0122	0.0156	0.0084	0.0094242	1457	154602	rs34751010	0.0094	0.0094	0.0095	0.0094	0.0097	0.0093	0.0093	0.0095	0.0095	0.0012	0.0085	0.0098	0	0.0202	0.0080	0.0097	0.0091	0.0081	0.0085	0.0085	0.0075	0.0096	0.0135	0.0081	0.0080	0.0120	0.0114	0.0020	0	0.0135	0.0072	0	0.0230	0.0034	0.0101	0.0057	0.0087	0.352	0.20988	T	0.377	0.20293	T	0.999	0.77913	D	0.934	0.66904	D	0.001228	0.39743	N	0.310878	0.861115	0.35389	D	2.745	0.80253	M	2.81	0.12676	T	-1.12	0.36586	N	0.106	0.14763	-1.0752	0.08307	T	0.050	0.21222	T	10	0.0037246644	0.00069	T	.	.	.	0.096	0.27654	.	.	0.616761936004	0.61366	0.4155427964779092	0.41470	0.113105756222	0.12766	0.352143228054	0.18237	T	0.007807	0.19946	T	-0.54623	0.00307	T	-0.548003	0.17517	T	0.0606935169938421	0.07277	T	0.848615	0.56452	T	0.098663405	0.23273	0.072318226	0.15587	0.102595545	0.24243	0.072318226	0.15587	-4.998	0.39456	T	.	.	0.071	0.07318	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.798074	0.36800	20.3	0.96045181691328541	0.28547	0.96364	0.68777	D	AEFBI	0.504078	0.53580	D	0.256064878661307	0.53938	3.560899	0.266829727106604	0.53611	3.529374	0.979170096522301	0.29999	0.615465	0.37627	0	0.573888	0.26702	0	0.618467	0.43123	0	0.655142	0.61905	0	.	.	6.03	4.81	0.61401	3.732000	0.54746	6.778000	0.56577	0.756000	0.94297	0.998000	0.41325	1.000000	0.68203	0.026000	0.12556	0.8727:0.0:0.0:0.1273	12.236	0.53832	896	0.25515	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013092	0.015152	0.017663	0.005848	0.000000	0.025862	0.009146	0.007576	0.07143	1313.46	35	chr2	205121734	.	A	G	1313.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.747;DP=296;ExcessHet=0;FS=4.875;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.28;ReadPosRankSum=-0.983;SOR=0.345	GT:AD:DP:GQ:PL	0/1:51,56:107:99:1324,0,1311	6	0	1	0
chr2	205176520	205176520	A	G	exonic	PARD3B	.	nonsynonymous SNV	PARD3B:NM_152526:exon12:c.A1681G:p.N561D,PARD3B:NM_001302769:exon13:c.A1867G:p.N623D,PARD3B:NM_057177:exon13:c.A1867G:p.N623D,PARD3B:NM_205863:exon13:c.A1867G:p.N623D	.	430	1056	33	3	0	39	0.0181311	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	.	0.0078	0.00399361	0.0100	0.0018	0.0080	0.0001	0.0199	0.0123	0.0156	0.0081	0.0094889	1467	154602	rs192810274	0.0094	0.0094	0.0094	0.0093	0.0096	0.0092	0.0092	0.0095	0.0094	0.0012	0.0084	0.0096	0	0.0200	0.0078	0.0096	0.0090	0.0077	0.0085	0.0085	0.0075	0.0095	0.0135	0.0081	0.0079	0.0120	0.0114	0.0019	0	0.0135	0.0075	0	0.0232	0.0034	0.0101	0.0052	0.0081	0.112	0.37750	T	0.277	0.23570	T	0.839	0.46454	P	0.159	0.34693	B	0.003579	0.34767	N	0.285942	0.805457	0.29064	N	2.14	0.59869	M	2.92	0.12055	T	-2.19	0.51157	N	0.21	0.23380	-1.1142	0.02733	T	0.028	0.12058	T	10	0.0054169893	0.00119	T	.	.	.	0.038	0.09825	.	.	0.530060385853	0.52655	0.2708874988284292	0.27001	0.0444375090986	0.04792	0.407303154469	0.26083	T	0.012519	0.26591	T	-0.615441	0.00117	T	-0.64742	0.09135	T	0.0292316716135602	0.01873	T	0.837116	0.50934	T	0.1305617	0.30461	0.16406474	0.38026	0.110935315	0.26217	0.16406474	0.38025	-3.019	0.10497	T	.	.	0.099	0.16713	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.384234	0.30609	18.49	0.96623203055740303	0.30488	0.86833	0.46202	D	AEFBI	0.265501	0.38262	N	-0.212805906985755	0.32607	1.840782	-0.120715840194098	0.34556	1.989062	0.339713565186617	0.19571	0.615465	0.37627	0	0.573888	0.26702	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	6.03	3.5	0.39181	3.156000	0.50406	1.925000	0.29735	-0.095000	0.16041	1.000000	0.71638	0.648000	0.25949	0.932000	0.46971	0.7236:0.2764:0.0:0.0	12.516	0.55377	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	0.012085	0.015152	0.016304	0.005848	0.000000	0.025862	0.009146	0.007576	0.07143	585.63	33	chr2	205176520	.	A	G	585.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.206;DP=265;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.3;ReadPosRankSum=-1.06;SOR=0.624	GT:AD:DP:GQ:PL	0/1:60,33:93:99:596,0,1400	6	0	1	0
chr2	205794867	205794867	A	G	exonic	NRP2	.	nonsynonymous SNV	NRP2:NM_201279:exon16:c.A2539G:p.I847V,NRP2:NM_003872:exon17:c.A2590G:p.I864V,NRP2:NM_201266:exon17:c.A2605G:p.I869V	.	421	1099	2	0	0	2	0.000909091	.	.	.	3209075	NRP2-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.521	0.0450837776206	0.0007	0.000399361	0.0002	0.0015	8.637e-05	0	0	2.997e-05	0	0	0.0001358	21	154602	rs143404274	3.215e-05	3.283e-05	3.267e-05	3.163e-05	0.0011	2.478e-05	2.22e-05	0.0008	0.0007	0.0011	8.944e-05	0	0	0	0	3.597e-06	3.312e-05	0	0.0004	0.0004	0.0004	0.0004	0.0013	0.0003	0.0003	0.0010	0.0009	0.0013	0	0.0004	0	0	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	0.592	0.77913	P	0.526	0.83170	P	0.000003	0.62929	D	0.121077	0.999991	0.58761	D	1.895	0.50365	L	-2.54	0.89627	D	-0.36	0.13035	N	0.557	0.68429	0.802	0.94438	D	0.824	0.94089	D	10	0.053697556	0.05601	T	0.045084	0.61808	D	0.521	0.79643	.	.	0.946076075654	0.94550	0.5414349632738905	0.54068	0.749077089882	0.63671	0.676406085491	0.63754	T	0.205255	0.56426	T	-0.0523391	0.44091	T	0.138812	0.79467	D	0.109897969025837	0.13413	T	0.968703	0.89491	D	0.11425602	0.26977	0.21562846	0.46159	0.11425602	0.26976	0.21562846	0.46158	-5.602	0.43880	T	.	.	0.170	0.48807	B	.;.;.	.;.;.	4.630863	0.73628	26.0	0.99911297701738611	0.98095	0.95200	0.63808	D	AEFDBI	0.800118	0.72619	D	0.728551269020243	0.81503	7.537711	0.760490304480569	0.86941	9.052909	0.999999959462271	0.74766	0.706548	0.73137	0	0.627178	0.54094	0	0.786243	0.99158	0	0.714379	0.83352	0	.	.	6.17	6.17	0.99707	7.568000	0.81546	11.284000	0.91844	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	16.822	0.85699	908	0.22609	Neuropilin, 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	1	0	.	.	.	.	.	.	.	.	0.07143	1253.44	39	chr2	205794867	.	A	G	1253.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.197;DP=327;ExcessHet=0;FS=6.431;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.15;ReadPosRankSum=1.67;SOR=1.217	GT:AD:DP:GQ:PL	0/1:75,62:137:99:1264,0,2051	6	0	1	0
chr2	210028899	210028899	A	G	exonic	KANSL1L	.	nonsynonymous SNV	KANSL1L:NM_001307976:exon10:c.T2216C:p.L739S,KANSL1L:NM_152519:exon11:c.T2342C:p.L781S	.	430	1079	13	0	0	13	0.00598802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.437	0.0141842735507	0.0010	0.000798722	0.0011	0	8.649e-05	0	0.0003	0.0015	0.0011	0.0018	0.001009	156	154602	rs143543856	0.0010	0.0010	0.0010	0.0011	0.0026	0.0010	0.0010	0.0016	0.0013	0.0001	0.0004	0.0030	0	0.0003	0.0026	0.0011	0.0012	0.0012	0.0010	0.0010	0.0010	0.0010	0.0015	0.0009	0.0008	0.0013	0.0012	0.0002	0.0011	0.0013	0.0026	0	9.411e-05	0.0034	0.0015	0.0009	0.0010	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.997	0.86255	D	0.006088	0.32280	N	0.138557	0.999411	0.46970	D	2.52	0.73523	M	.	.	.	-3.82	0.71997	D	0.852	0.84817	-0.1820	0.78131	T	0.400	0.75159	T	9	0.1476292	0.27970	T	0.014184	0.34122	T	0.437	0.74164	.	.	0.41518383557	0.41130	0.6112754531062813	0.61059	0.460446982877	0.45603	0.740376651287	0.73028	T	0.110799	0.42579	T	-0.028046	0.47701	T	0.167923	0.81284	D	0.0471568157848344	0.04992	T	0.90031	0.65830	D	0.4596083	0.64646	0.48987055	0.70485	0.4596083	0.64647	0.48987055	0.70486	-9.769	0.74312	D	.	.	0.897	0.89971	P	.;.	.;.	4.368632	0.67236	25.1	0.99870360619912213	0.94815	0.93253	0.57725	D	AEFBCI	0.830016	0.74882	D	0.729984214142311	0.81600	7.55995	0.708279422355541	0.83008	7.910291	0.999699200712967	0.41870	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.592323	0.36904	0	.	.	5.19	5.19	0.71428	7.903000	0.86133	8.139000	0.76678	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	14.713	0.68862	735	0.53711	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.006793	0.002924	0.000000	0.000000	0.006098	0.000000	0.07143	685.63	35	chr2	210028899	.	A	G	685.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.306;DP=236;ExcessHet=0;FS=0.929;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.23;ReadPosRankSum=0.157;SOR=0.892	GT:AD:DP:GQ:PL	0/1:36,31:67:99:696,0,874	6	0	1	0
chr2	219608392	219608392	A	G	exonic	STK11IP	.	nonsynonymous SNV	STK11IP:NM_052902:exon14:c.A1565G:p.E522G	.	371	1145	5	1	0	7	0.00304745	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.00217011080565	0.0002	0.000798722	0.0003	0.0003	0	0	0	0.0003	0	0.0007	0.0002135	33	154602	rs369827406	0.0003	0.0003	0.0003	0.0003	0.0152	0.0003	0.0002	0.0126	0.0117	0.0002	0.0005	0.0012	0	0	0.0152	0.0002	0.0008	0.0005	0.0003	0.0003	0.0003	0.0003	0.0016	0.0003	0.0002	0.0011	0.0009	7.225e-05	0	0.0016	0.0003	0	0	0.0102	0.0003	0	0.0004	0.15	0.24661	T	0.005	0.72224	D	.	.	.	.	.	.	0.048305	0.01984	N	2.111440	1	0.08975	N	.	.	.	3.37	0.05847	T	-1.98	0.45769	N	0.154	0.15888	-0.9796	0.35094	T	0.014	0.05465	T	10	0.010678828	0.00237	T	0.00217	0.04071	T	0.047	0.12962	.	.	0.0884992946249	0.08302	0.2006983539454964	0.19986	.	.	0.207448452711	0.00708	T	0.013502	0.11669	T	-0.273437	0.11377	T	-0.63055	0.10373	T	0.00765861515961044	0.00089	T	0.288971	0.05229	T	0.058749415	0.11856	0.040235624	0.04303	0.058749415	0.11856	0.040235624	0.04302	-4.831	0.34951	T	.	.	0.080	0.07985	B	.	.	0.984802	0.13624	10.16	0.94235525896982819	0.24496	0.12790	0.17481	N	AEFDBI	0.069180	0.13680	N	-0.944707940669642	0.09812	0.466048	-0.996344348451302	0.09867	0.4934386	0.962008218869376	0.28592	0.719381	0.83141	0	0.723133	0.82719	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.44	-1.48	0.08286	0.245000	0.17917	0.898000	0.22526	0.756000	0.94297	0.208000	0.24400	0.033000	0.21346	0.313000	0.24807	0.3672:0.212:0.0775:0.3432	1.525	0.02371	147	0.94143	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007576	0.010101	0.008152	0.017544	0.000000	0.025862	0.003086	0.000000	0.08333	421.27	35	chr2	219608392	.	A	G	421.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.171;DP=185;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.2;ReadPosRankSum=-1.213;SOR=0.657	GT:AD:DP:GQ:PL	0/1:9,17:26:99:431,0,255	5	0	1	1
chr2	227379186	227379186	A	G	exonic	TM4SF20	.	nonsynonymous SNV	TM4SF20:NM_024795:exon1:c.T83C:p.I28T	.	420	1096	5	1	0	7	0.00318327	.	.	.	1643702	not_provided|TM4SF20-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.090	0.00840708997818	0.0018	0.00159744	0.0014	0	0.0014	0	0.0017	0.0021	0	6.056e-05	0.0014165	219	154602	rs138536526	0.0017	0.0017	0.0018	0.0017	0.0020	0.0017	0.0017	0.0019	0.0019	0.0003	0.0018	0.0008	0	0.0012	0.0019	0.0020	0.0019	0.0002	0.0017	0.0017	0.0018	0.0016	0.0025	0.0015	0.0015	0.0022	0.0021	0.0003	0	0.0025	0.0014	0	0.0019	0.0068	0.0025	0.0028	0.0004	0.286	0.15201	T	0.008	0.67890	D	0.015	0.17086	B	0.048	0.24975	B	0.294432	0.14709	N	0.653406	1	0.08975	N	2.045	0.56016	M	1.35	0.34648	T	-2.32	0.51478	N	0.276	0.31253	-1.0015	0.29488	T	0.090	0.34518	T	10	0.016111732	0.00339	T	0.008407	0.22257	T	0.090	0.26093	.	.	0.238096912614	0.23440	0.4702324768199751	0.46942	0.0117463660798	0.01108	0.544604420662	0.45096	T	0.013163	0.11438	T	-0.535146	0.00358	T	-0.546403	0.17672	T	0.0388704127529429	0.03488	T	0.609739	0.23084	T	0.087726615	0.20439	0.09108261	0.21396	0.087726615	0.20439	0.09108261	0.21396	-5.286	0.39804	T	.	.	0.306	0.53425	B	.	.	1.356227	0.17643	13.29	0.80408421072147973	0.13189	0.10069	0.15675	N	AEFDGBHCI	0.153685	0.27859	N	-0.577957018991248	0.19615	1.027989	-0.585679621263008	0.19866	1.067808	0.999999438124585	0.74766	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.77	4.62	0.56946	2.865000	0.48111	6.100000	0.53542	0.691000	0.84096	0.042000	0.21073	0.728000	0.26397	0.090000	0.17789	0.829:0.0:0.171:0.0	7.196	0.25032	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	0	0	1	0	0.003525	0.000000	0.005435	0.000000	0.050000	0.008621	0.006098	0.000000	0.1429	2427.24	33	chr2	227379186	.	A	G	2427.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.683;DP=368;ExcessHet=0.3476;FS=2.305;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=11.19;ReadPosRankSum=0.883;SOR=0.555	GT:AD:DP:GQ:PL	0/1:45,49:94:99:1180,0,1117	5	0	2	0
chr2	229591816	229591816	C	T	exonic	DNER	.	nonsynonymous SNV	DNER:NM_139072:exon2:c.G349A:p.D117N	.	415	1099	1	0	7	8	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.240382747405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.426e-06	3.42e-06	1.363e-06	5.51e-06	2.992e-05	1e-06	7.3e-07	7.2e-07	2e-07	2.992e-05	0	0	0	0	0	2.701e-06	1.659e-05	0	6.587e-06	6.572e-06	0	1.349e-05	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	1.0	0.00964	T	0.022	0.57587	D	0.017	0.17573	B	0.003	0.08700	B	0.164714	0.17554	N	0.628659	0.976235	0.39258	D	-0.04	0.05001	N	-2.25	0.87272	D	-0.57	0.17210	N	0.181	0.19593	-0.6581	0.62359	T	0.319	0.68839	T	10	0.10538623	0.19478	T	0.240383	0.88672	D	0.187	0.46274	0.307	0.27806	0.575483156055	0.57216	0.3690868176414553	0.36822	0.128894738699	0.14537	0.382844746113	0.22659	T	0.173935	0.52298	T	-0.16747	0.25619	T	-0.478335	0.24622	T	0.483704030513763	0.32033	T	0.289471	0.05256	T	0.034141365	0.03773	0.030199641	0.01446	0.034141365	0.03773	0.030199641	0.01446	-3.787	0.20610	T	.	.	0.081	0.08224	B	.	.	0.778799	0.11490	8.091	0.95082318958236756	0.26136	0.52178	0.29070	D	AEFDIJ	0.220625	0.34535	N	-0.709520483023827	0.15753	0.7966866	-0.553981751711738	0.20700	1.116468	0.989080022798683	0.31718	0.752111	0.98806	0	0.59043	0.45803	0	0.389834	0.06288	2	0.564101	0.26826	0	.	.	4.1	4.1	0.47196	0.266000	0.18300	0.336000	0.17333	0.599000	0.40250	0.286000	0.25196	0.115000	0.22839	0.630000	0.32157	0.0:0.905:0.0:0.095	10.091	0.41618	951	0.11083	EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1395.49	35	chr2	229591816	.	C	T	1395.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.452;DP=301;ExcessHet=0;FS=0.742;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.55;ReadPosRankSum=-0.097;SOR=0.839	GT:AD:DP:GQ:PL	0/1:48,55:105:99:1406,0,1515	6	0	1	0
chr2	229976317	229976317	A	G	exonic	FBXO36	.	nonsynonymous SNV	FBXO36:NM_174899:exon2:c.A173G:p.H58R	.	441	1066	15	0	0	15	0.00698649	.	.	.	2344268	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.249	0.0150657575556	0.0005	0.000199681	0.0010	0	0.0005	0	0	0.0012	0	0.0022	0.0009508	147	154602	rs139081403	0.0007	0.0007	0.0006	0.0007	0.0113	0.0006	0.0006	0.0091	0.0083	8.965e-05	0.0010	0.0047	0	0	0.0113	0.0004	0.0013	0.0024	0.0007	0.0007	0.0006	0.0008	0.0023	0.0006	0.0006	0.0017	0.0015	4.809e-05	0	0.0023	0.0049	0	9.414e-05	0.0034	0.0006	0.0014	0.0010	0.05	0.41096	D	0.026	0.55759	D	0.952	0.70673	P	0.601	0.62418	P	0.000000	0.84330	D	0.000000	0.884071	0.27999	N	2.695	0.78878	M	0.7	0.55266	T	-5.08	0.83092	D	0.564	0.63120	-0.4428	0.70637	T	0.329	0.69682	T	10	0.020536453	0.00475	T	0.015066	0.35586	T	0.249	0.55752	.	.	0.829300019503	0.82767	0.7481369098619418	0.74759	0.180973065125	0.20352	0.464250594378	0.33892	T	0.164	0.50943	T	-0.331705	0.05984	T	-0.255105	0.49311	T	0.123124136544954	0.14732	T	0.786621	0.43725	T	0.5184272	0.68169	0.503896	0.71323	0.5184272	0.68170	0.503896	0.71324	-3.344	0.14311	T	.	.	0.234	0.59948	B	.;.;.	.;.;.	3.820712	0.55171	23.6	0.99693346224742629	0.80112	0.85925	0.45116	D	AEFBI	0.460414	0.51060	N	0.515172305933091	0.67985	5.155493	0.461323216665259	0.65446	4.825021	0.83906728037772	0.24832	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.421255	0.06892	1	.	.	5.74	5.74	0.90070	5.674000	0.67788	10.192000	0.83237	0.748000	0.86766	0.989000	0.36753	1.000000	0.68203	0.971000	0.54645	1.0:0.0:0.0:0.0	13.605	0.61507	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	0.010070	0.000000	0.009511	0.023392	0.000000	0.017241	0.003049	0.003788	0.07143	363.63	35	chr2	229976317	.	A	G	363.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.427;DP=211;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.86;ReadPosRankSum=-1.139;SOR=0.704	GT:AD:DP:GQ:PL	0/1:33,20:53:99:374,0,763	6	0	1	0
chr2	232336581	232336583	AGG	-	exonic	DIS3L2	.	nonframeshift deletion	DIS3L2:NM_152383:exon21:c.2609_2611del:p.E874del	Perlman syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	517951	Perlman_syndrome	MONDO:MONDO:0009965,MedGen:C0796113,OMIM:267000,Orphanet:2849	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs749247083	2.128e-05	2.394e-05	1.776e-05	2.483e-05	6.957e-05	1.525e-05	1.329e-05	2.995e-05	2.038e-05	0	0	0	0	0	0	2.248e-05	0	6.957e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1916.23	33	chr2	232336580	.	AAGG	A	1916.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.347;DP=269;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=24.57;ReadPosRankSum=0.178;SOR=0.776	GT:AD:DP:GQ:PL	0/1:30,48:78:99:1926,0,1089	5	0	1	1
chr2	232847515	232847515	C	0	exonic	GIGYF2	.	.	.	.	20	155	23	3	25	54	0.0855457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1639.9	61	chr2	232847515	.	C	*	1639.9	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.723;DP=557;ExcessHet=0.0921;FS=1.191;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.37;ReadPosRankSum=1.97;SOR=0.829	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:61,34:95:99:.:.:1225,0,2418:.	6	0	1	0
chr2	232847516	232847519	CACA	0	exonic	GIGYF2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	7814.23	78	chr2	232847516	.	CACA	*	7814.23	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.903;DP=635;ExcessHet=4.7409;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.17;ReadPosRankSum=0.439;SOR=0.718	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:61,34:95:99:.:.:1225,0,2418:.	6	0	1	0
chr2	232847517	232847517	A	0	exonic	GIGYF2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	1679.91	78	chr2	232847517	.	A	*	1679.91	.	AC=5;AF=0.357;AN=14;DP=634;ExcessHet=1.4958;FS=1.793;MLEAC=5;MLEAF=0.357;MQ=60;QD=3.26;SOR=0.857	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:61,34:95:99:.:.:1225,0,2418:.	2	0	5	0
chr2	233462650	233462650	A	G	exonic	DGKD	.	nonsynonymous SNV	DGKD:NM_001377259:exon24:c.A2702G:p.N901S,DGKD:NM_003648:exon25:c.A2969G:p.N990S,DGKD:NM_152879:exon26:c.A3101G:p.N1034S	.	406	1104	11	1	0	13	0.00585322	.	.	.	3205201	DGKD-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.135	.	.	0.00319489	0.0030	0	0.0006	0	0	8.996e-05	0.0077	0.0210	0.0025614	396	154602	rs201384247	0.0012	0.0012	0.0006	0.0018	0.0189	0.0011	0.0011	0.0182	0.0178	2.987e-05	4.473e-05	0	0	0	0.0016	7.195e-06	0.0013	0.0189	0.0006	0.0006	0.0003	0.0009	0.0172	0.0005	0.0004	0.0142	0.0131	2.406e-05	0	0	0	0	0	0	0	0	0.0172	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.046294	0.23454	N	0.439500	0.981593	0.25027	N	-0.14	0.04484	N	-1.0	0.78199	T	0.16	0.05217	N	0.059	0.03069	-0.9630	0.38606	T	0.138	0.45545	T	10	0.004060954	0.00079	T	.	.	.	0.135	0.36572	0.256	0.19689	0.407223025684	0.40337	0.06614763545967561	0.06553	0.388573688024	0.40119	0.328598856926	0.14722	T	0.05319	0.29372	T	-0.380252	0.03105	T	-0.608135	0.12136	T	0.00399687234021469	0.00042	T	.	.	.	0.021439802	0.00746	0.025286177	0.00569	0.021439802	0.00746	0.025286177	0.00569	-1.101	0.01118	T	.	.	0.067	0.02927	B	.;.	.;.	0.526691	0.08954	5.735	0.20337870859659538	0.00727	0.59331	0.30886	D	AEFBCI	0.070745	0.14055	N	-1.04244424391411	0.07736	0.3604049	-0.910491983081611	0.11846	0.6059977	0.696190951250509	0.22644	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.08	-1.44	0.08391	0.137000	0.15816	-0.179000	0.11150	-0.054000	0.16847	0.736000	0.28985	0.000000	0.08366	0.676000	0.33425	0.4875:0.278:0.2345:0.0	4.868	0.12976	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	0.003525	0.000000	0.000000	0.008772	0.000000	0.000000	0.000000	0.011364	0.07143	746.44	34	chr2	233462650	.	A	G	746.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.887;DP=282;ExcessHet=0;FS=3.965;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.54;ReadPosRankSum=0.299;SOR=1.12	GT:AD:DP:GQ:PL	0/1:65,34:99:99:757,0,1654	6	0	1	0
chr2	233637282	233637282	C	T	exonic	UGT1A10	.	stopgain	UGT1A10:NM_019075:exon1:c.C760T:p.R254X	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0015	0.000798722	0.0005	0.0038	8.637e-05	0	0	5.997e-05	0	0.0007	0.0003881	60	154602	rs61748821	0.0002	0.0002	0.0002	0.0002	0.0044	0.0001	0.0001	0.0038	0.0036	0.0044	0.0002	0	2.519e-05	0	0.0003	1.079e-05	0.0002	0.0007	0.0010	0.0010	0.0011	0.0008	0.0032	0.0009	0.0008	0.0028	0.0026	0.0032	0	0.0005	0	0.0002	0	0	5.88e-05	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.751	0.75009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0195615	0.54322	T	0.254484	0.85832	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	7.027261	0.96051	35	0.996564195106312	0.77631	0.07703	0.13706	N	AEFGI	0.121528	0.23623	N	0.00934826952317588	0.42280	2.544461	-0.316884459816916	0.27553	1.529699	7.73690491685624E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	3.52	-0.726	0.10606	0.394000	0.20559	-20.000000	0.00162	0.599000	0.40250	0.013000	0.18845	0.000000	0.08366	0.330000	0.25202	0.6397:0.3602:0.0:0.0	12.880	0.57400	471	0.78036	.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	2633.44	35	chr2	233637282	.	C	T	2633.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.22;DP=427;ExcessHet=0;FS=3.971;MLEAC=1;MLEAF=0.071;MQ=59.94;MQRankSum=-1.02;QD=12.78;ReadPosRankSum=-0.768;SOR=0.468	GT:AD:DP:GQ:PL	0/1:106,100:206:99:2644,0,2462	6	0	1	0
chr2	238344536	238344536	A	C	exonic	TRAF3IP1	.	nonsynonymous SNV	TRAF3IP1:NM_015650:exon9:c.A1199C:p.D400A	Senior-Loken syndrome 9, Autosomal recessive	413	1099	9	1	0	11	0.00497963	.	.	.	719743	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.104	0.00382257895674	0.0028	0.00119808	0.0030	0.0006	0.0010	0	0.0070	0.0043	0.0066	0.0003	0.0028913	447	154602	rs61756349	0.0036	0.0036	0.0036	0.0036	0.0042	0.0035	0.0035	0.0041	0.0041	0.0003	0.0012	0.0008	2.519e-05	0.0041	0.0035	0.0042	0.0028	0.0009	0.0024	0.0024	0.0023	0.0025	0.0037	0.0022	0.0021	0.0033	0.0032	0.0006	0	0.0009	0.0006	0	0.0062	0	0.0037	0.0028	0.0002	0.276	0.15717	T	0.226	0.25438	T	0.98	0.59353	D	0.828	0.59497	P	0.239577	0.15741	N	0.599254	0.999995	0.58761	D	2.14	0.59869	M	2.28	0.17271	T	-1.5	0.36586	N	0.402	0.44283	-1.0761	0.08124	T	0.042	0.17994	T	10	0.0049200654	0.00105	T	0.003823	0.08930	T	0.104	0.29647	.	.	0.315903272564	0.31202	0.31806859148454864	0.31719	0.634336529021	0.57292	0.343479037285	0.16958	T	0.013043	0.11355	T	-0.471335	0.00834	T	-0.449961	0.27701	T	0.0691967816084844	0.08538	T	0.577142	0.20757	T	0.16476518	0.36705	0.14741908	0.34888	0.14649165	0.33533	0.1620036	0.37652	-3.832	0.21283	T	0.5861345801440024	0.65293	0.084	0.09917	B	.	.	2.273425	0.29059	18.00	0.99154816843676019	0.53931	0.47449	0.27985	N	AEFBI	0.056495	0.10447	N	-0.00109099224484539	0.41805	2.507222	-0.0732888557271627	0.36500	2.124869	0.179529492724046	0.17851	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.01	2.67	0.30756	0.702000	0.25307	1.980000	0.30029	0.756000	0.94297	0.979000	0.35152	0.701000	0.26233	0.995000	0.73285	0.7909:0.0:0.2091:0.0	5.734	0.17327	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	0	0	1	0	0.002518	0.005051	0.001359	0.000000	0.000000	0.000000	0.006098	0.003788	0.07143	1163.46	44	chr2	238344536	.	A	C	1163.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.971;DP=294;ExcessHet=0;FS=4.81;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.19;ReadPosRankSum=-0.726;SOR=0.378	GT:AD:DP:GQ:PL	0/1:50,54:104:99:1174,0,1209	6	0	1	0
chr3	8620014	8620014	G	A	exonic	SSUH2	.	nonsynonymous SNV	SSUH2:NM_001256748:exon12:c.C982T:p.R328C,SSUH2:NM_001256749:exon12:c.C763T:p.R255C,SSUH2:NM_015931:exon12:c.C916T:p.R306C	.	428	1093	1	0	0	1	0.000457247	0.0002	0.082	.	3608505	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.315	.	.	.	7.487e-05	0	8.693e-05	0	0	4.522e-05	0	0.0003	5.82e-05	9	154602	rs761227472	2.874e-05	2.873e-05	3.132e-05	2.613e-05	0.0002	2.152e-05	1.908e-05	9.798e-05	7.843e-05	0	6.714e-05	0	2.519e-05	0	0	1.979e-05	3.313e-05	0.0002	6.572e-06	6.566e-06	0	1.345e-05	6.545e-05	0	0	.	.	0	0	6.545e-05	0	0	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	0.056	0.22806	B	0.029	0.21540	B	0.073762	0.21325	N	0.463132	0.999967	0.81001	D	2.97	0.85306	M	0.49	0.55775	T	-7.36	0.94647	D	0.469	0.69387	-0.6192	0.64022	T	0.281	0.65299	T	10	0.6840343	0.71452	D	0.090098	0.75453	D	0.315	0.63694	0.868	0.96212	0.509228182784	0.50563	0.7114505573178961	0.71087	0.367296540295	0.38284	0.623392343521	0.56209	T	0.199083	0.55625	T	-0.101117	0.36240	T	-0.0908754	0.64096	T	0.707885646207555	0.41097	D	0.89781	0.64352	D	0.38437918	0.59631	0.30690724	0.56714	0.38437918	0.59632	0.30690724	0.56713	-9.912	0.73383	D	0.8327396831098915	0.90316	0.254	0.55459	B	.;.;.	.;.;.	4.392353	0.67793	25.1	0.99687742865307438	0.79708	0.62416	0.31775	D	AEFBCI	0.477252	0.52032	N	-0.166902488474347	0.34517	1.971202	-0.18693581796891	0.32016	1.817353	0.999915422731738	0.45857	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.21	3.41	0.38145	1.549000	0.35819	6.313000	0.55432	-0.182000	0.10109	1.000000	0.71638	1.000000	0.68203	0.688000	0.33778	0.0904:0.0:0.7377:0.1719	6.860	0.23241	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	0.000511	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1144.53	35	chr3	8620014	.	G	A	1144.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.501;DP=264;ExcessHet=0;FS=4.28;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.63;ReadPosRankSum=1.26;SOR=1.224	GT:AD:DP:GQ:PL	0/1:40,44:84:99:1155,0,959	6	0	1	0
chr3	9869955	9869955	C	T	exonic	CIDEC	.	nonsynonymous SNV	CIDEC:NM_001321144:exon4:c.G259A:p.V87M,CIDEC:NM_001199552:exon5:c.G481A:p.V161M,CIDEC:NM_001199623:exon5:c.G520A:p.V174M,CIDEC:NM_001321143:exon5:c.G259A:p.V87M,CIDEC:NM_001378491:exon5:c.G481A:p.V161M,CIDEC:NM_022094:exon5:c.G481A:p.V161M,CIDEC:NM_001199551:exon6:c.G511A:p.V171M,CIDEC:NM_001321142:exon6:c.G481A:p.V161M	.	420	1095	7	0	0	7	0.00318616	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.449	0.0519863664054	0.0005	0.000599042	0.0007	0.0002	0.0007	0	0	0.0009	0.0011	0.0005	0.0006274	97	154602	rs145323356	0.0005	0.0005	0.0005	0.0005	0.0066	0.0005	0.0005	0.0049	0.0044	0.0001	0.0005	0.0017	2.519e-05	7.488e-05	0.0066	0.0005	0.0005	0.0005	0.0004	0.0004	0.0004	0.0004	0.0008	0.0003	0.0003	0.0004	0.0004	0.0001	0	0.0002	0.0020	0	0	0.0068	0.0006	0.0024	0.0008	0.048	0.40573	D	0.027	0.55341	D	0.704	0.41950	P	0.14	0.33554	B	0.000375	0.45194	N	0.192334	0.997911	0.81001	D	1.88	0.49984	L	-1.7	0.83072	D	-2.53	0.54864	D	0.393	0.47022	-0.2122	0.77356	T	0.433	0.77413	T	10	0.056804836	0.06426	T	0.051986	0.64886	D	0.449	0.75004	.	.	0.767807737041	0.76568	0.650586606132137	0.64994	0.0295269217594	0.03033	0.483669102192	0.36562	T	.	.	.	-0.247415	0.14418	T	-0.203585	0.54306	T	0.0369163517767589	0.03140	T	0.907509	0.67676	D	0.10306345	0.24356	0.1731746	0.39625	0.10306345	0.24356	0.1731746	0.39624	-4.249	0.28720	T	.	.	0.134	0.28920	B	.;.;.;.;.;.	.;.;.;.;.;.	2.248000	0.28711	17.89	0.99427481670525042	0.64081	0.70759	0.34724	D	AEFDBI	0.397368	0.47347	N	0.0250667969793737	0.42998	2.601385	0.0131443987542392	0.40323	2.404714	0.999973654909798	0.50053	0.581397	0.33459	0	0.588015	0.36545	0	0.565031	0.19037	0	0.613276	0.41899	0	.	.	5.89	4.11	0.47350	1.367000	0.33809	0.120000	0.14904	-0.176000	0.10722	0.672000	0.28366	0.003000	0.18671	0.416000	0.27139	0.0:0.8908:0.0:0.1092	11.980	0.52405	557	0.71576	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.005035	0.005051	0.006793	0.008772	0.000000	0.008621	0.000000	0.003788	0.07143	1730.44	33	chr3	9869955	.	C	T	1730.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.67;DP=306;ExcessHet=0;FS=2.359;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.42;ReadPosRankSum=0.436;SOR=0.969	GT:AD:DP:GQ:PL	0/1:58,62:120:99:1741,0,1418	6	0	1	0
chr3	9870465	9870465	G	T	exonic	CIDEC	.	nonsynonymous SNV	CIDEC:NM_001199551:exon4:c.C217A:p.P73T	.	421	1082	19	0	0	19	0.00870362	.	.	.	2819881	not_provided|CIDEC-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.022	.	.	0.00399361	0.0076	0.0057	0.0072	0	0.0053	0.0151	0.0118	0.0010	0.004075	630	154602	rs140125102	0.0071	0.0071	0.0073	0.0070	0.0209	0.0070	0.0070	0.0178	0.0166	0.0021	0.0081	0.0194	0	0.0026	0.0209	0.0077	0.0073	0.0018	0.0062	0.0062	0.0067	0.0057	0.0117	0.0059	0.0057	0.0103	0.0098	0.0019	0	0.0117	0.0147	0	0.0025	0.0102	0.0084	0.0128	0.0021	0.54	0.06802	T	0.119	0.36101	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.05	0.39990	T	-0.25	0.11008	N	0.063	0.03502	-1.0193	0.23943	T	0.028	0.12014	T	7	0.0033667386	0.00059	T	.	.	.	0.022	0.04323	.	.	0.148003135375	0.14442	.	.	0.0171875367071	0.01662	0.260267823935	0.04922	T	.	.	.	-0.685109	0.00045	T	-0.7465	0.03623	T	0.00474907694010272	0.00051	T	0.367163	0.08573	T	.	.	.	.	.	.	.	.	-4.135	0.25804	T	.	.	0.071	0.03925	B	.;.	.;.	0.079154	0.04858	1.450	0.35179929911945079	0.02194	0.05519	0.11409	N	AEFBCI	0.040758	0.06105	N	-0.959853081957445	0.09473	0.4484746	-1.07774049293137	0.08140	0.3989001	0.982155718217304	0.30360	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.57	0.743	0.17496	-0.242000	0.08945	-0.205000	0.10907	0.575000	0.29119	0.000000	0.06391	0.000000	0.08366	0.022000	0.11911	0.3121:0.0:0.6879:0.0	4.715	0.12269	557	0.71576	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.012131	0.000000	0.020718	0.017730	0.000000	0.000000	0.006250	0.007752	0.07143	259.83	30	chr3	9870465	.	G	T	259.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.944;DP=190;ExcessHet=0;FS=1.574;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.87;ReadPosRankSum=0.745;SOR=0.361	GT:AD:DP:GQ:PL	0/1:22,11:33:99:270,0,618	6	0	1	0
chr3	12532671	12532671	C	G	exonic	TSEN2	.	nonsynonymous SNV	TSEN2:NM_001145393:exon11:c.C1270G:p.L424V,TSEN2:NM_001321279:exon11:c.C1270G:p.L424V,TSEN2:NM_001145392:exon12:c.C1348G:p.L450V,TSEN2:NM_001321277:exon12:c.C1348G:p.L450V,TSEN2:NM_025265:exon12:c.C1348G:p.L450V,TSEN2:NM_001145394:exon13:c.C1171G:p.L391V	Pontocerebellar hypoplasia type 2B, Autosomal recessive	0	1521	0	1	0	2	0.00065703	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.0167460232367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375	0.11370	T	0.536	0.09931	T	0.014	0.19245	B	0.022	0.29270	B	0.000444	0.44317	D	0.145306	0.830134	0.28770	N	0.55	0.14455	N	0.51	0.55608	T	-0.77	0.21429	N	0.053	0.02658	-1.0657	0.10386	T	0.097	0.36471	T	10	0.09504944	0.16946	T	0.016746	0.38152	T	0.054	0.15330	0.442	0.49811	0.420447328233	0.41661	0.15547452464661254	0.15468	0.0306381666785	0.03166	0.424253821373	0.28422	T	0.037499	0.24497	T	-0.172057	0.24923	T	-0.484924	0.23924	T	0.280861854553223	0.24208	T	0.720328	0.40598	T	0.086208366	0.20028	0.057371598	0.10416	0.086208366	0.20028	0.057371598	0.10416	-5.976	0.52915	T	0.15944480406103287	0.19387	0.071	0.11220	B	.;.;.;.	.;.;.;.	0.583175	0.09517	6.293	0.91886411662857725	0.21204	0.43828	0.27184	N	AEFBI	0.068830	0.13595	N	-0.487978115232713	0.22474	1.200295	-0.305831589522356	0.27910	1.552123	0.425329896096953	0.20325	0.651	0.46895	0	0.708844	0.79440	0	0.608884	0.39905	0	0.683762	0.67416	0	.	.	5.15	4.26	0.49832	0.167000	0.16419	0.499000	0.18978	-0.217000	0.08171	0.944000	0.32806	0.996000	0.32793	0.994000	0.71098	0.0:0.6494:0.3506:0.0	12.517	0.55383	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	.	.	.	.	.	.	.	.	0.07143	891.63	34	chr3	12532671	.	C	G	891.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.478;DP=246;ExcessHet=0;FS=0.884;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.73;ReadPosRankSum=-1.341;SOR=0.522	GT:AD:DP:GQ:PL	0/1:39,37:76:99:902,0,942	6	0	1	0
chr3	14507675	14507675	G	A	exonic	GRIP2	.	nonsynonymous SNV	GRIP2:NM_001080423:exon18:c.C2104T:p.R702C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.148e-05	0	0	0	0	0	0	0.0003	3.23e-05	5	154602	rs763855418	3.831e-05	3.831e-05	2.042e-05	5.639e-05	0.0005	3.026e-05	2.719e-05	0.0004	0.0003	2.987e-05	0	0	2.519e-05	5.618e-05	0	5.396e-06	3.313e-05	0.0005	3.287e-05	3.284e-05	2.57e-05	4.037e-05	0.0008	1.261e-05	7.98e-06	0.0003	0.0002	2.415e-05	0	0	0	0	0	0	0	0	0.0008	.	.	.	0.001	0.83351	D	0.995	0.67487	D	0.953	0.69275	D	.	.	.	.	.	.	.	2.425	0.70256	M	.	.	.	.	.	.	0.928	0.95491	.	.	.	.	.	.	.	0.7932593	0.78846	D	.	.	.	.	.	.	.	0.693507107271	0.69087	0.7893257021237662	0.78884	.	.	0.899095416069	0.96340	D	0.116983	0.43672	T	0.31487	0.84104	D	0.550772	0.95627	D	.	.	.	0.987701	0.95793	D	0.30330634	0.53200	0.2990545	0.55939	0.30330634	0.53200	0.2990545	0.55939	-10.109	0.74562	D	.	.	0.152	0.37083	B	.;.;.	.;.;.	5.719083	0.93214	33	0.91688772083336545	0.20981	0.85969	0.45167	D	AEFDBHCI	.	.	.	.	.	.	.	.	.	0.999999999990776	0.74766	0.208312	0.04119	0	0.068659	0.01829	0	0.216804	0.04610	0	0.079188	0.02158	0	0.965156	0.68300	5.03	5.03	0.67015	4.651000	0.61143	9.821000	0.81804	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	18.384	0.90403	900	0.24599	PDZ domain|PDZ domain|PDZ domain;PDZ domain|PDZ domain|PDZ domain;PDZ domain|PDZ domain|PDZ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	737.63	33	chr3	14507675	.	G	A	737.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.21;DP=229;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.66;ReadPosRankSum=-0.009;SOR=0.555	GT:AD:DP:GQ:PL	0/1:27,27:54:99:748,0,678	6	0	1	0
chr3	15256212	15256212	A	C	exonic	SH3BP5	.	nonsynonymous SNV	SH3BP5:NM_001018009:exon9:c.T771G:p.S257R,SH3BP5:NM_004844:exon9:c.T1242G:p.S414R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	.	0.0064	0.00678914	0.0017	0.0191	0.0004	0	0	1.499e-05	0	0	0.0016365	253	154602	rs142117555	0.0006	0.0006	0.0007	0.0005	0.0208	0.0006	0.0005	0.0196	0.0191	0.0208	0.0008	0	0	0	0.0003	1.529e-05	0.0016	6.956e-05	0.0055	0.0055	0.0063	0.0048	0.0195	0.0052	0.0051	0.0183	0.0179	0.0195	0	0.0013	0	0	0	0	5.883e-05	0.0047	0	0.187	0.21634	T	0.322	0.19016	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.205	0.09354	N	.	.	.	-0.5	0.15782	N	0.072	0.14763	-1.0248	0.22148	T	0.025	0.10866	T	8	0.0032135248	0.00055	T	.	.	.	0.013	0.01715	0.262	0.20631	0.176091768786	0.17195	0.21613878206161916	0.21529	0.0568055738289	0.06281	0.306189537048	0.11332	T	0.069586	0.33746	T	-0.630632	0.00095	T	-0.663699	0.08019	T	0.00347162123900013	0.00037	T	0.484852	0.16474	T	0.033595853	0.03609	0.04398383	0.05596	0.033595853	0.03609	0.04398383	0.05595	-4.48	0.30626	T	.	.	0.104	0.18991	B	.;.;.	.;.;.	1.202692	0.15947	12.21	0.96528050765726103	0.30140	0.19969	0.20865	N	AEFBCI	0.081177	0.16422	N	-0.928561059271753	0.10177	0.4851539	-0.969803667510013	0.10468	0.5273654	0.798155389413773	0.24137	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.711	0.71501	0	.	.	4.61	-2.44	0.06126	-0.128000	0.10508	1.311000	0.25538	0.587000	0.30956	0.244000	0.24789	0.987000	0.30940	0.578000	0.30845	0.1462:0.1606:0.5318:0.1613	2.601	0.04571	533	0.73433	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001524	0.000000	0.002717	0.009259	0.000000	0.000000	0.000000	0.003788	0.07143	1011.63	34	chr3	15256212	.	A	C	1011.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.3;DP=250;ExcessHet=0;FS=3.17;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.67;ReadPosRankSum=0.076;SOR=1.16	GT:AD:DP:GQ:PL	0/1:35,39:74:99:1022,0,880	6	0	1	0
chr3	15635581	15635581	A	G	exonic	BTD	.	nonsynonymous SNV	BTD:NM_001281723:exon2:c.A142G:p.I48V,BTD:NM_001281725:exon2:c.A142G:p.I48V,BTD:NM_001281726:exon2:c.A142G:p.I48V,BTD:NM_001370658:exon2:c.A142G:p.I48V,BTD:NM_001370752:exon2:c.A142G:p.I48V,BTD:NM_001370753:exon2:c.A142G:p.I48V,BTD:NM_001323582:exon3:c.A142G:p.I48V,BTD:NM_001281724:exon4:c.A142G:p.I48V	Biotinidase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	518944	BTD-related_disorder|not_provided|Biotinidase_deficiency	.|MedGen:C3661900|MONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260,Orphanet:79241	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.174	.	0.0076	0.00758786	0.0019	0.0213	0.0006	0	0	4.495e-05	0	0	0.0018111	280	154602	rs114092911	0.0006	0.0006	0.0007	0.0005	0.0225	0.0006	0.0006	0.0212	0.0207	0.0225	0.0011	0	0	0	0.0003	1.709e-05	0.0014	3.478e-05	0.0066	0.0066	0.0068	0.0064	0.0229	0.0063	0.0061	0.0217	0.0212	0.0229	0	0.0023	0	0	0	0.0068	0.0001	0.0033	0	0.543	0.19361	T	0.357	0.19304	T	0.008	0.14655	B	0.008	0.13708	B	0.096315	0.20082	N	0.527918	0.999996	0.08975	N	1.275	0.32135	L	-3.54	0.94799	D	-0.9	0.24244	N	0.093	0.08366	-0.5330	0.67428	T	0.281	0.65320	T	10	0.0063790977	0.00144	T	.	.	.	0.174	0.44019	.	.	0.777943573247	0.77589	0.5578327123927991	0.55710	0.0621684514235	0.06921	0.298597157001	0.10193	T	0.341769	0.71064	T	-0.38214	0.03020	T	-0.305438	0.44148	T	0.0011359375	0.00011	T	0.653935	0.26930	T	0.016402895	0.00195	0.02243346	0.00268	0.015889464	0.00163	0.020462217	0.00137	-3.736	0.27427	T	.	.	0.075	0.09191	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	-0.541320	0.01739	0.130	0.36609945770931657	0.02365	0.12476	0.17292	N	AEFDGBCIJ	0.178063	0.30532	N	-1.28448706787676	0.03862	0.17327	-1.36792486422879	0.03599	0.1682133	0.999999948231378	0.74766	0.730579	0.87903	0	0.688494	0.66719	0	0.688494	0.62686	0	0.648885	0.59868	0	.	.	4.72	-3.88	0.03927	0.728000	0.25682	-1.825000	0.04657	-0.604000	0.04605	0.105000	0.22895	0.000000	0.08366	0.001000	0.02609	0.4913:0.0:0.2714:0.2373	3.922	0.08747	484	0.77165	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.003788	0.1429	3003.25	35	chr3	15635581	.	A	G	3003.25	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.125;DP=407;ExcessHet=0.3476;FS=0.982;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=12.11;ReadPosRankSum=0.017;SOR=0.795	GT:AD:DP:GQ:PL	0/1:49,51:100:99:1250,0,1155	5	0	2	0
chr3	15679512	15679512	G	A	exonic	ANKRD28	.	nonsynonymous SNV	ANKRD28:NM_001195099:exon20:c.C1889T:p.T630M,ANKRD28:NM_001349280:exon21:c.C2183T:p.T728M,ANKRD28:NM_001195098:exon22:c.C1889T:p.T630M,ANKRD28:NM_001349277:exon22:c.C2450T:p.T817M,ANKRD28:NM_001349278:exon22:c.C2441T:p.T814M,ANKRD28:NM_001349281:exon22:c.C2183T:p.T728M,ANKRD28:NM_001349282:exon22:c.C2183T:p.T728M,ANKRD28:NM_001349283:exon22:c.C1889T:p.T630M,ANKRD28:NM_015199:exon22:c.C2351T:p.T784M,ANKRD28:NM_001349279:exon23:c.C2342T:p.T781M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	.	0.0038	0.00319489	0.0011	0.0114	0.0006	0.0014	0	7.895e-05	0.0023	0	0.0009767	151	154602	rs116650555	0.0004	0.0004	0.0004	0.0003	0.0112	0.0003	0.0003	0.0103	0.0099	0.0112	0.0008	0	0.0010	0	0.0005	1.889e-05	0.0009	5.797e-05	0.0031	0.0031	0.0031	0.0030	0.0106	0.0028	0.0027	0.0098	0.0095	0.0106	0	0.0009	0	0.0006	0	0.0034	2.941e-05	0.0019	0.0002	0.439	0.09291	T	0.307	0.23501	T	0.0	0.02946	B	0.001	0.04355	B	0.151794	0.17943	N	0.638814	1	0.08975	N	1.245	0.31408	L	2.36	0.16089	T	1.39	0.00846	N	0.199	0.24385	-1.0224	0.22932	T	0.019	0.07893	T	10	0.005570203	0.00123	T	.	.	.	0.043	0.11576	.	.	0.202312658747	0.19855	0.21029837617745442	0.20945	0.184250353618	0.20723	0.325887948275	0.14312	T	0.019111	0.15285	T	-0.696496	0.00038	T	-0.76385	0.02976	T	0.00317203554184759	0.00033	T	0.742826	0.36203	T	0.011578356	0.00019	0.02568174	0.00622	0.011578356	0.00019	0.02568174	0.00622	-3.711	0.19481	T	.	.	0.055	0.00390	B	.;.	.;.	1.459584	0.18817	13.94	0.66157240525635974	0.07977	0.48762	0.28280	N	AEFDGBIJ	0.055600	0.10210	N	-0.773645921985997	0.13999	0.6938717	-0.694202575891666	0.17104	0.9080127	0.999486961807393	0.39952	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.723	0.93126	0	.	.	6.06	-0.832	0.10240	1.999000	0.40425	1.563000	0.27369	-0.113000	0.14837	0.988000	0.36536	0.269000	0.24035	0.944000	0.48669	0.6791:0.0:0.3209:0.0	10.675	0.44976	492	0.76569	.;Ankyrin repeat-containing domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	3959.24	36	chr3	15679512	.	G	A	3959.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.29;DP=462;ExcessHet=0.3476;FS=4.593;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=1.07;SOR=0.944	GT:AD:DP:GQ:PL	0/1:63,70:133:99:1753,0,1379	5	0	2	0
chr3	17014786	17014786	C	T	exonic	PLCL2	.	nonsynonymous SNV	PLCL2:NM_001144382:exon3:c.C2893T:p.P965S,PLCL2:NM_015184:exon3:c.C2515T:p.P839S	.	.	.	.	.	.	.	.	.	.	.	697922	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.097	.	0.0098	0.00658946	0.0022	0.0248	0.0008	0	0	5.994e-05	0.0011	0	0.0021022	325	154602	rs74332311	0.0008	0.0008	0.0009	0.0007	0.0260	0.0008	0.0007	0.0246	0.0240	0.0260	0.0011	0	0	0	0.0021	9.892e-05	0.0018	1.159e-05	0.0074	0.0074	0.0077	0.0072	0.0256	0.0071	0.0069	0.0243	0.0238	0.0256	0	0.0032	0	0	0	0	0.0001	0.0066	0.0002	1.0	0.00964	T	0.831	0.03706	T	0.0	0.02946	B	0.0	0.01387	B	0.001601	0.38497	N	0.291867	0.752867	0.29620	N	.	.	.	2.48	0.14657	T	1.4	0.00835	N	0.176	0.22228	-0.9649	0.38230	T	0.004	0.01435	T	9	0.003397882	0.00059	T	.	.	.	0.097	0.27909	.	.	0.220282294035	0.21616	0.2611393278077149	0.26026	.	.	0.440456300974	0.30639	T	0.076779	0.35499	T	-0.514555	0.00473	T	-0.490949	0.23291	T	0.00730543206188604	0.00084	T	.	.	.	0.064265445	0.13619	0.07881686	0.17688	0.064265445	0.13618	0.07881686	0.17687	-1.299	0.01566	T	.	.	0.079	0.07083	B	.;.	.;.	1.957512	0.24864	16.55	0.27540556105475517	0.01372	0.69484	0.34206	D	AEFDBI	0.109145	0.21689	N	-0.423644350747114	0.24643	1.332033	-0.288343530295596	0.28482	1.588382	0.999979122426182	0.50053	0.743674	0.98306	0	0.724815	0.89359	0	0.630245	0.45026	0	0.683762	0.67416	0	.	.	5.16	2.17	0.26736	1.725000	0.37696	3.404000	0.38147	0.599000	0.40250	0.805000	0.29786	0.998000	0.33993	0.758000	0.36073	0.5214:0.3905:0.0:0.0881	7.037	0.24176	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	0	0	1	0	0.002016	0.010101	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.1429	1967.29	34	chr3	17014786	.	C	T	1967.29	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.437;DP=315;ExcessHet=0.3476;FS=2.809;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=12;ReadPosRankSum=2.28;SOR=0.49	GT:AD:DP:GQ:PL	0/1:39,52:91:99:1203,0,881	5	0	2	0
chr3	20001751	20001751	G	T	exonic	PP2D1	.	nonsynonymous SNV	PP2D1:NM_001252657:exon2:c.C369A:p.F123L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	.	.	0.0105831	0.0018	0.0198	0	0	0	0.0036	0	0	0.0007374	114	154602	rs7652446	0.0008	0.0008	0.0009	0.0007	0.0250	0.0008	0.0007	0.0235	0.0230	0.0250	0.0016	0.0039	0	0	0.0012	6.408e-05	0.0016	0	0.0072	0.0073	0.0074	0.0071	0.0253	0.0069	0.0067	0.0240	0.0235	0.0253	0	0.0018	0.0037	0	0	0	8.822e-05	0.0024	0.0002	0.37	0.11550	T	0.408	0.14633	T	.	.	.	.	.	.	0.851279	0.08960	N	0.929892	1	0.08975	N	1.35	0.33515	L	2.3	0.16953	T	-1.84	0.43149	N	0.063	0.03502	-0.9470	0.41481	T	0.007	0.02518	T	9	0.0034809709	0.00062	T	.	.	.	0.034	0.08419	0.59	0.71874	0.0138822411134	0.00435	0.1732052823595004	0.17240	.	.	0.389454126358	0.23592	T	0.011757	0.10442	T	-0.717915	0.00028	T	-0.784415	0.02323	T	0.00172235681405089	0.00018	T	0.338066	0.07246	T	0.07688486	0.17415	0.05562679	0.09793	0.07688486	0.17415	0.05562679	0.09793	-2.386	0.05047	T	.	.	0.259	0.49383	B	.	.	0.013838	0.04377	1.130	0.66743336377112261	0.08148	0.19420	0.20654	N	AEFI	0.108718	0.21619	N	-1.27695591759128	0.03954	0.177604	-1.29044810982327	0.04559	0.2152987	0.0104239061495552	0.12023	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.6	0.53	0.16296	0.271000	0.18390	2.027000	0.30236	-0.988000	0.01860	0.000000	0.06391	1.000000	0.68203	0.004000	0.06068	0.1781:0.2028:0.515:0.1042	3.668	0.07798	701	0.57775	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	2031.24	68	chr3	20001751	.	G	T	2031.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.643;DP=509;ExcessHet=0.3476;FS=1.146;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=10.92;ReadPosRankSum=1.3;SOR=0.628	GT:AD:DP:GQ:PL	0/1:53,33:86:99:772,0,1409	5	0	2	0
chr3	31990236	31990236	T	C	exonic	ZNF860	.	nonsynonymous SNV	ZNF860:NM_001137674:exon2:c.T1157C:p.I386T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.000680827859937	.	0.000199681	1.66e-05	0	0	0	0	3.014e-05	0	0	1.94e-05	3	154602	rs187560391	1.368e-06	1.368e-06	1.361e-06	1.375e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	8.993e-07	0	0	6.568e-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	0.702	0.04148	T	1.0	0.01155	T	0.208	0.29916	B	0.033	0.22329	B	.	.	.	.	1	0.08975	N	-0.08	0.04796	N	1.28	0.35960	T	0.58	0.02598	N	0.073	0.04668	-1.0213	0.23292	T	0.030	0.12935	T	8	0.02943194	0.01070	T	6.81E-4	0.00400	T	0.017	0.02790	.	.	0.0666544352282	0.05500	0.009125417300214583	0.00875	0.173288187603	0.19520	0.336557477713	0.15922	T	6.06E-4	0.00251	T	-0.345294	0.05030	T	-0.670121	0.07600	T	0.0455095657100863	0.04695	T	0.340966	0.07383	T	0.025703022	0.01537	0.0325274	0.02003	0.025703022	0.01537	0.0325274	0.02003	-2.383	0.05029	T	.	.	0.224	0.45544	B	.	.	-0.266111	0.02770	0.374	0.42787720733436096	0.03177	0.02968	0.07809	N	AEFBCI	0.029231	0.02722	N	-1.19409514664138	0.05089	0.2311748	-1.28898639593987	0.04579	0.216289	0.763135348697062	0.23544	0.651	0.46895	0	0.573888	0.26702	0	0.65145	0.50148	0	0.567892	0.33627	0	.	.	0.336	0.336	0.15198	-0.214000	0.09296	-20.000000	0.00162	0.249000	0.18320	0.000000	0.06391	0.000000	0.08366	0.490000	0.28791	0.4617:0.0:1.0E-4:0.5382	2.419	0.04173	946	0.12043	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	2483.44	144	chr3	31990236	.	T	C	2483.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.649;DP=834;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=59.99;MQRankSum=0;QD=13.14;ReadPosRankSum=-1.134;SOR=0.671	GT:AD:DP:GQ:PL	0/1:89,100:189:99:2494,0,2178	6	0	1	0
chr3	33865306	33865306	T	C	exonic	PDCD6IP	.	nonsynonymous SNV	PDCD6IP:NM_001162429:exon17:c.T2323C:p.S775P,PDCD6IP:NM_013374:exon17:c.T2308C:p.S770P	.	429	1079	13	1	0	15	0.0069029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.00384375306974	.	0.000599042	0.0005	9.899e-05	0	0	0	0.0001	0.0011	0.0031	0.000414	64	154602	rs571028506	0.0002	0.0002	0.0001	0.0003	0.0030	0.0002	0.0002	0.0021	0.0019	0	4.795e-05	0.0002	0	1.877e-05	0.0030	4.351e-05	0.0003	0.0023	0.0001	0.0001	0.0001	0.0002	0.0025	9.141e-05	7.698e-05	0.0014	0.0011	7.216e-05	0	0	0.0006	0	0	0	5.88e-05	0	0.0025	0.382	0.11120	T	0.456	0.12740	T	0.0	0.02946	B	0.0	0.01387	B	0.266625	0.15209	N	0.643694	1	0.08975	N	0.2	0.09183	N	3.11	0.08194	T	0.29	0.04161	N	0.097	0.07811	-0.9629	0.38625	T	0.008	0.02801	T	10	0.0035126805	0.00063	T	0.003844	0.08992	T	0.034	0.08419	.	.	0.117191471859	0.11215	0.19248375286468503	0.19166	0.121399189347	0.13675	0.367700874805	0.20502	T	0.003028	0.02432	T	-0.693563	0.00040	T	-0.773335	0.02660	T	0.00718645225803834	0.00082	T	0.522848	0.17081	T	0.07473212	0.16792	0.06384683	0.12709	0.07473212	0.16791	0.06384683	0.12709	-2.674	0.07919	T	.	.	0.076	0.07985	B	.;.	.;.	0.835638	0.12070	8.626	0.97265547640877059	0.33112	0.04462	0.10069	N	AEFBI	0.175873	0.30306	N	-1.19071029038422	0.05140	0.2336036	-1.16550537404407	0.06494	0.3127728	0.774140314662092	0.23723	0.744818	0.98587	0	0.724815	0.89359	0	0.732433	0.93434	0	0.714379	0.83352	0	.	.	5.64	-5.49	0.02381	-0.115000	0.10713	-1.073000	0.06414	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.992000	0.67800	0.0:0.4318:0.2456:0.3225	9.024	0.35380	511	0.75131	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001008	0.000000	0.001362	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	873.46	33	chr3	33865306	.	T	C	873.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.773;DP=250;ExcessHet=0;FS=0.846;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.06;ReadPosRankSum=1.3;SOR=0.561	GT:AD:DP:GQ:PL	0/1:40,39:79:99:884,0,970	6	0	1	0
chr3	48174283	48174283	C	G	splicing	CDC25A	NM_201567:exon8:c.810+1G>C;NM_001789:exon9:c.930+1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.93	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.872e-07	1.71e-05	0	1.381e-06	3.025e-05	0	0	.	.	3.025e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.392481	0.89476	D	0.325996	0.89343	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.000131	0.82956	27.9	0.98231250675388404	0.39396	0.95833	0.66349	D	AEFBI	.	.	.	1.00404451880619	0.95868	14.04926	0.84618449324408	0.92792	11.63411	0.999998650712667	0.74766	0.156188	0.03335	0	0.156173	0.03658	0	0.082826	0.02530	0	0.117559	0.03655	0	0.957114	0.64042	5.6	4.72	0.59248	2.505000	0.45084	6.999000	0.57189	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.844000	0.39860	0.0:0.9136:0.0:0.0864	11.513	0.49752	22	0.98466	.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	269.47	40	chr3	48174283	.	C	G	269.47	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-2.343;DP=419;ExcessHet=3.1439;FS=328.398;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=0.98;ReadPosRankSum=0.838;SOR=9.507	GT:AD:DP:GQ:PL	0/1:52,19:71:27:27,0,1044	2	0	4	1
chr3	49422392	49422392	G	A	exonic	AMT	.	nonsynonymous SNV	AMT:NM_000481:exon1:c.C59T:p.P20L,AMT:NM_001164710:exon1:c.C59T:p.P20L,AMT:NM_001164711:exon1:c.C59T:p.P20L,AMT:NM_001164712:exon1:c.C59T:p.P20L	Glycine encephalopathy, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	YES	953539	Inborn_genetic_diseases|Glycine_encephalopathy	MeSH:D030342,MedGen:C0950123|Human_Phenotype_Ontology:HP:0008288,MONDO:MONDO:0011612,MedGen:C0751748,OMIM:PS605899,Orphanet:407	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.258	0.0527428734783	.	.	8.356e-06	0	0	0	0	1.522e-05	0	0	6.5e-06	1	154602	rs749087037	5.008e-05	4.994e-05	5.324e-05	4.689e-05	5.589e-05	4.071e-05	3.745e-05	4.448e-05	4.037e-05	0	4.484e-05	0	0	3.789e-05	0	5.589e-05	6.657e-05	3.479e-05	1.322e-05	1.317e-05	1.291e-05	1.355e-05	2.947e-05	2.2e-06	8.2e-07	4.89e-06	1.83e-06	0	0	0	0	0	0	0	2.947e-05	0	0	0.358	0.12070	T	0.533	0.10607	T	0.0	0.02946	B	0.0	0.01387	B	0.456455	0.04844	N	1.403430	1	0.19486	N	-0.695	0.01866	N	-1.73	0.92007	D	-0.73	0.24460	N	0.049	0.07125	-0.5872	0.65332	T	0.457	0.78843	T	10	0.071611196	0.10579	T	0.052743	0.65193	D	0.258	0.56959	0.422	0.46529	0.469578130381	0.46583	0.23523431814499318	0.23438	0.210734899915	0.23571	0.41975659132	0.27803	T	0.326779	0.69736	T	-0.0868887	0.38587	T	-0.261956	0.48629	T	0.0202983614287183	0.00730	T	0.818018	0.49766	T	0.023132611	0.01028	0.025902051	0.00653	0.023132611	0.01028	0.025902051	0.00653	-4.477	0.31920	T	.	.	0.093	0.21803	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	0.273923	0.06514	2.994	0.94188084326927224	0.24412	0.03466	0.08620	N	ALL	0.131873	0.25098	N	-1.26165058524407	0.04148	0.1866556	-1.31065351563386	0.04291	0.2021124	0.999999999884812	0.74766	0.645754	0.44609	0	0.696144	0.67643	0	0.52208	0.10781	0	0.528226	0.09195	0	.	.	3.89	-2.44	0.06126	-0.545000	0.06159	-0.254000	0.10482	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3938:0.313:0.2931:0.0	4.409	0.10850	1	0.99630	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	790.63	33	chr3	49422392	.	G	A	790.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.558;DP=243;ExcessHet=0;FS=3.589;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=0.524;SOR=0.354	GT:AD:DP:GQ:PL	0/1:31,33:64:99:801,0,824	6	0	1	0
chr3	49425968	49425968	T	G	exonic	NICN1	.	nonsynonymous SNV	NICN1:NM_032316:exon3:c.A338C:p.E113A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.00726579796371	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.804	0.03085	T	0.79	0.04194	T	0.6	0.39325	P	0.316	0.41603	B	0.000794	0.41772	D	0.209918	0.564673	0.81001	D	0.84	0.21119	L	1.83	0.24841	T	0.16	0.05217	N	0.269	0.30461	-1.0929	0.05066	T	0.041	0.17488	T	10	0.19749892	0.35684	T	0.007266	0.19280	T	0.078	0.22779	0.31	0.28289	0.221734844693	0.21761	0.29724797168499045	0.29637	0.463146450932	0.45825	0.495803564787	0.38243	T	0.016719	0.13769	T	-0.110846	0.34629	T	-0.396999	0.33734	T	0.688012063503265	0.40156	D	0.749425	0.37065	T	0.07142755	0.15813	0.05192942	0.08454	0.07142755	0.15813	0.05192942	0.08453	-1.234	0.01299	T	.	.	0.335	0.55535	B	.;.;.	.;.;.	2.722339	0.35608	19.94	0.74067919507730295	0.10558	0.78089	0.38476	D	AEFGBI	0.249537	0.36975	N	-0.0306046233228108	0.40473	2.404131	0.0891053894412161	0.43999	2.690223	0.999996760933014	0.74766	0.706298	0.61202	0	0.643519	0.57511	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.24	5.24	0.72863	5.413000	0.66140	6.201000	0.54892	0.661000	0.55757	0.996000	0.39380	1.000000	0.68203	0.692000	0.33898	0.0:0.0:0.176:0.824	9.603	0.38780	1	0.99630	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	522.63	33	chr3	49425968	.	T	G	522.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.453;DP=238;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.04;ReadPosRankSum=0.764;SOR=0.638	GT:AD:DP:GQ:PL	0/1:39,26:65:99:533,0,991	6	0	1	0
chr3	49656608	49656608	G	A	exonic	BSN	.	nonsynonymous SNV	BSN:NM_003458:exon5:c.G7052A:p.R2351Q	.	412	1108	2	0	0	2	0.000901713	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.00945636305829	0.0002	0.000399361	0.0006	0	0.0011	0	0	0.0008	0.0017	0.0003	0.0003946	61	154602	rs147218044	0.0003	0.0003	0.0003	0.0003	0.0035	0.0003	0.0003	0.0023	0.0019	6.006e-05	0.0003	0.0030	0	1.921e-05	0.0035	0.0002	0.0006	0.0001	0.0003	0.0003	0.0004	0.0003	0.0005	0.0002	0.0002	0.0004	0.0003	0.0001	0	6.53e-05	0.0029	0	0	0	0.0005	0	0	0.104	0.29959	T	0.602	0.07894	T	1.0	0.90584	D	0.988	0.77976	D	0.459461	0.12409	N	0.745176	0.899348	0.36134	D	1.735	0.44892	L	2.29	0.17113	T	-0.03	0.07444	N	0.186	0.20262	-1.0503	0.14313	T	0.076	0.30522	T	10	0.013151258	0.00280	T	0.009456	0.24786	T	0.158	0.41098	.	.	0.513042017857	0.50944	0.07283832009574284	0.07220	0.318413710368	0.34066	0.499899238348	0.38814	T	0.117904	0.43834	T	-0.441504	0.01267	T	-0.524795	0.19809	T	0.0322890799931859	0.02354	T	0.842916	0.51943	T	0.10092126	0.23835	0.11872733	0.28659	0.10092126	0.23835	0.11872733	0.28659	-3.704	0.19377	T	.	.	0.078	0.06710	B	.	.	2.801423	0.36851	20.4	0.98863985737911109	0.47528	0.08762	0.14643	N	AEFDBIJ	0.217913	0.34298	N	0.32426391391503	0.57397	3.906801	0.321360981392506	0.56798	3.843628	0.999999999948134	0.74766	0.514905	0.20481	0	0.547309	0.14657	0	0.603688	0.36954	0	0.613276	0.41899	0	.	.	5.45	5.45	0.79688	0.437000	0.21261	7.235000	0.57884	0.676000	0.76740	0.002000	0.15269	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	17.953	0.88981	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	0.002528	0.005208	0.004098	0.000000	0.000000	0.008621	0.006135	0.000000	0.07143	595.53	36	chr3	49656608	.	G	A	595.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.64;DP=218;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.91;ReadPosRankSum=0.633;SOR=0.715	GT:AD:DP:GQ:PL	0/1:27,23:50:99:606,0,657	6	0	1	0
chr3	49722056	49722056	C	T	exonic	GMPPB	.	nonsynonymous SNV	GMPPB:NM_013334:exon8:c.G860A:p.R287Q,GMPPB:NM_021971:exon8:c.G860A:p.R287Q	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14, Autosomal recessive	429	1092	1	0	0	1	0.000457666	.	.	YES	75126	Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2T|Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B14|Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A14|Abnormality_of_the_musculature|GMPPB-related_disorder|not_provided|Inborn_genetic_diseases	MONDO:MONDO:0014142,MedGen:C4518000,OMIM:615352,Orphanet:363623|MONDO:MONDO:0014141,MedGen:C3809221,OMIM:615351|MONDO:MONDO:0014140,MedGen:C3809216,OMIM:615350,Orphanet:588|Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745|.|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0.188	0.120180627272	0.0002	.	0.0002	0	0.0002	0.0001	0	0.0003	0	0	0.0001876	29	154602	rs202160208	0.0002	0.0002	0.0002	0.0002	0.0005	0.0002	0.0002	0.0001	7.541e-05	0	0.0001	0.0054	2.519e-05	0	0.0005	7.554e-05	0.0004	3.478e-05	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0.0001	0.0001	8.876e-05	4.825e-05	0	0	0.0035	0	0	0	0.0002	0.0010	0	0.941	0.03060	T	0.578	0.09205	T	0.003	0.17332	B	0.008	0.13708	B	0.000001	0.62929	D	0.055778	0.985373	0.81001	D	-0.92	0.01311	N	-1.03	0.76430	T	0.14	0.05405	N	0.804	0.79986	-0.9271	0.44559	T	0.122	0.42357	T	10	0.014596343	0.00307	T	0.120181	0.80066	D	0.188	0.46444	.	.	0.756562400578	0.75435	0.6669756657282992	0.66635	0.640746392793	0.57700	0.477246969938	0.35678	T	0.504413	0.82350	D	-0.302679	0.08410	T	-0.354481	0.38690	T	0.030708315807	0.02100	T	0.982502	0.94093	D	0.10202696	0.24104	0.05517497	0.09629	0.104270495	0.24648	0.04905508	0.07417	-5.681	0.47874	T	0.0975306387506497	0.06872	0.121	0.26514	B	.;.;.	.;.;.	3.877928	0.56346	23.7	0.91670247582090048	0.20961	0.74797	0.36599	D	AEFDBCI	0.323425	0.42562	N	-0.339047270605234	0.27676	1.520424	-0.0740276751929228	0.36468	2.122674	0.999999999935642	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	4.98	4.03	0.46115	4.170000	0.58021	5.858000	0.50403	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:0.7387:0.0:0.2613	4.624	0.11853	1	0.99630	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.004076	0.000000	0.000000	0.008621	0.000000	0.000000	0.07143	1511.44	35	chr3	49722056	.	C	T	1511.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.54;DP=315;ExcessHet=0;FS=0.662;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12;ReadPosRankSum=-1.412;SOR=0.779	GT:AD:DP:GQ:PL	0/1:66,60:126:99:1522,0,1597	6	0	1	0
chr3	50366072	50366072	T	C	exonic	CACNA2D2	.	nonsynonymous SNV	CACNA2D2:NM_001005505:exon32:c.A2801G:p.Q934R,CACNA2D2:NM_001291101:exon32:c.A2594G:p.Q865R,CACNA2D2:NM_006030:exon32:c.A2801G:p.Q934R,CACNA2D2:NM_001174051:exon33:c.A2822G:p.Q941R	.	423	1096	1	2	0	5	0.00227583	.	.	.	239254	Developmental_and_epileptic_encephalopathy|Cerebellar_atrophy_with_seizures_and_variable_developmental_delay|Inborn_genetic_diseases	MONDO:MONDO:0100620,MedGen:C5779964|MONDO:MONDO:0032788,MedGen:C5193132,OMIM:618501|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.806	0.163911981248	7.7e-05	0.000599042	0.0004	0	0.0004	0	0	0.0003	0	0.0011	0.0003493	54	154602	rs191208192	0.0002	0.0002	0.0002	0.0003	0.0010	0.0002	0.0002	0.0008	0.0007	5.974e-05	0.0006	0.0005	0	0	0.0010	0.0002	0.0004	0.0009	0.0003	0.0003	0.0002	0.0004	0.0010	0.0002	0.0002	0.0005	0.0004	2.408e-05	0	0.0008	0.0017	0	0	0	0.0003	0.0014	0.0010	0.0	0.91255	D	0.053	0.47336	T	0.999	0.77913	D	0.983	0.75793	D	0.000070	0.52346	D	0.132059	0.998541	0.45064	D	2.97	0.85306	M	-0.73	0.73100	T	-3.04	0.62863	D	0.961	0.97643	-0.0114	0.82020	T	0.424	0.76816	T	10	0.4275589	0.57275	T	0.163912	0.84314	D	0.806	0.93699	.	.	0.917962880508	0.91713	0.9794021129118513	0.97931	1.41931001334	0.85588	0.659374713898	0.61319	T	0.184262	0.77206	T	0.0955439	0.63808	D	0.314025	0.88835	D	0.145676993046513	0.16754	T	0.956054	0.83312	D	0.7710684	0.82113	0.8093311	0.88858	0.7710684	0.82114	0.8093311	0.88859	-9.98	0.74026	D	.	.	0.574	0.72692	P	.;.;.;.;.;.	.;.;.;.;.;.	4.690340	0.75145	26.3	0.99824127955571129	0.90677	0.98540	0.83876	D	AEFDGBI	0.917195	0.88445	D	0.752043955480316	0.83036	7.91359	0.718553823079579	0.83790	8.114556	0.999999999996812	0.74766	0.766844	0.99359	0	0.609123	0.50646	0	0.851219	0.99655	0	0.620976	0.48614	0	.	.	5.21	5.21	0.72005	7.578000	0.81790	7.833000	0.70197	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	13.345	0.60008	2	0.99499	Voltage-dependent calcium channel, alpha-2/delta subunit, conserved region;Voltage-dependent calcium channel, alpha-2/delta subunit, conserved region;.;.;.;Voltage-dependent calcium channel, alpha-2/delta subunit, conserved region	.	.	.	.	.	Likely benign	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	0.000000	0.07143	771.83	34	chr3	50366072	.	T	C	771.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.31;DP=238;ExcessHet=0;FS=0.983;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=0.377;SOR=0.504	GT:AD:DP:GQ:PL	0/1:28,33:61:99:782,0,699	6	0	1	0
chr3	51310256	51310256	G	A	exonic	DOCK3	.	nonsynonymous SNV	DOCK3:NM_004947:exon28:c.G2947A:p.V983M	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.399	0.0321642382459	8.2e-05	.	1.767e-05	0	0	0	0	3.332e-05	0	0	6.5e-06	1	154602	rs375470911	1.515e-05	1.71e-05	1.505e-05	1.526e-05	7.156e-05	9.92e-06	8.47e-06	3.066e-05	2.085e-05	0	0	0	0	1.892e-05	0	1.084e-05	4.989e-05	7.156e-05	2.629e-05	2.627e-05	1.285e-05	4.035e-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	0.414	0.10020	T	0.044	0.49663	D	1.0	0.90584	D	0.991	0.79672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.375	0.34280	L	-0.3	0.67874	T	-1.52	0.36980	N	0.546	0.57263	-0.2894	0.75282	T	0.449	0.78396	T	10	0.41431028	0.56437	T	0.032164	0.54066	D	0.399	0.71321	.	.	0.90084601261	0.89986	0.6320617830300258	0.63140	0.608241247554	0.55603	0.916449189186	0.98041	D	0.217704	0.58022	T	0.299656	0.82940	D	0.192658	0.82720	D	0.664718389511108	0.39103	D	0.975502	0.91380	D	0.35313118	0.57309	0.38136908	0.63147	0.35313118	0.57310	0.38136908	0.63147	-10.606	0.77454	D	.	.	0.724	0.73971	P	.	.	4.932113	0.81324	27.5	0.99819684983299561	0.90238	0.90220	0.51225	D	AEFDBI	0.558839	0.56790	D	0.789667297170267	0.85453	8.581037	0.806730691067575	0.90255	10.32583	0.999999998219124	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.83	5.83	0.93059	7.752000	0.84018	9.839000	0.81912	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	20.121	0.97960	8	0.99202	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	648.44	35	chr3	51310256	.	G	A	648.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.357;DP=252;ExcessHet=0;FS=1.984;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.4;ReadPosRankSum=0.578;SOR=0.468	GT:AD:DP:GQ:PL	0/1:37,32:69:99:659,0,871	6	0	1	0
chr3	51633722	51633722	G	A	exonic	RAD54L2	.	nonsynonymous SNV	RAD54L2:NM_001322256:exon7:c.G971A:p.R324H,RAD54L2:NM_015106:exon8:c.G971A:p.R324H,RAD54L2:NM_001322253:exon9:c.G971A:p.R324H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.667	0.0999296404482	.	.	1.648e-05	0	0	0	0	1.499e-05	0	6.057e-05	1.29e-05	2	154602	rs755810370	9.578e-06	1.026e-05	8.168e-06	1.1e-05	4.638e-05	5.56e-06	4.35e-06	1.583e-05	9.3e-06	2.987e-05	0	0	0	1.873e-05	0	7.195e-06	0	4.638e-05	2.63e-05	2.627e-05	5.142e-05	0	4.83e-05	8.14e-06	5.14e-06	8e-06	2.99e-06	4.83e-05	0	0	0	0	0	0	2.94e-05	0	0	0.007	0.59928	D	0.004	0.74150	D	1.0	0.90584	D	0.991	0.79672	D	0.000293	0.46274	N	0.191452	0.99981	0.49394	D	1.7	0.43825	L	-3.14	0.92884	D	-4.62	0.79143	D	0.165	0.17416	0.659	0.92659	D	0.807	0.93486	D	10	0.49480677	0.61203	T	0.09993	0.77188	D	0.667	0.87625	0.475	0.55182	0.808897337031	0.80710	0.7720502148102353	0.77155	0.852843786159	0.68628	0.753886163235	0.75020	T	0.823648	0.95715	D	0.0768209	0.61665	D	-0.0305744	0.68331	D	0.98404735326767	0.75491	D	0.975469	0.91344	D	0.0789603	0.18011	0.09036409	0.21186	0.0789603	0.18011	0.09036409	0.21186	-8.749	0.66067	D	.	.	0.099	0.16843	B	.	.	5.092826	0.85052	28.5	0.99954788859526689	0.99969	0.97244	0.73544	D	AEFBI	0.683055	0.64586	D	0.607768500904079	0.73665	6.003418	0.569517972276597	0.72764	5.861781	0.995103996114631	0.33954	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.19	4.32	0.50899	5.932000	0.69838	9.854000	0.82009	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.1676:0.0:0.8324:0.0	9.001	0.35245	6	0.99319	SNF2-related, N-terminal 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	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1517.46	33	chr3	51633722	.	G	A	1517.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.629;DP=276;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.81;ReadPosRankSum=-0.69;SOR=0.758	GT:AD:DP:GQ:PL	0/1:34,62:96:99:1528,0,714	6	0	1	0
chr3	53823399	53823399	C	T	exonic	CHDH	.	nonsynonymous SNV	CHDH:NM_018397:exon3:c.G610A:p.E204K	.	418	1101	3	0	0	3	0.00136054	.	.	.	3422620	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.039	0.0282215477471	.	.	7.86e-05	0	0	0	0	0.0001	0	0	3.88e-05	6	154602	rs771398046	4.615e-05	4.652e-05	4.927e-05	4.299e-05	0.0012	3.687e-05	3.37e-05	0.0006	0.0004	0	2.284e-05	0	0	0	0.0012	4.426e-05	8.351e-05	5.918e-05	4.599e-05	4.596e-05	5.137e-05	4.035e-05	0.0002	2.109e-05	1.527e-05	3.762e-05	2.575e-05	0	0	0	0	0	0	0	8.82e-05	0	0.0002	0.257	0.16738	T	0.332	0.18449	T	0.025	0.19245	B	0.026	0.20792	B	0.000670	0.42516	D	0.235426	0.504587	0.31697	N	0.89	0.21648	L	1.03	0.40469	T	-1.55	0.37566	N	0.412	0.45237	-1.0284	0.20973	T	0.073	0.29643	T	10	0.28027266	0.45602	T	0.028222	0.50927	D	0.039	0.10176	0.548	0.66296	0.352262096564	0.34836	0.43977306932644467	0.43894	0.319636368641	0.34164	0.383739769459	0.22785	T	0.297936	0.67052	T	-0.331209	0.06020	T	-0.508985	0.21419	T	0.0539687900392593	0.06184	T	0.963204	0.86318	D	0.085471906	0.19827	0.117803656	0.28437	0.085471906	0.19827	0.117803656	0.28436	-6.147	0.47493	T	.	.	0.097	0.15609	B	.	.	1.758155	0.22363	15.59	0.99066053396432485	0.51598	0.92342	0.55490	D	AEFBI	0.290377	0.40178	N	-0.697439238002267	0.16093	0.8169769	-0.619285458480832	0.18998	1.017379	0.999631952173446	0.41205	0.732398	0.92422	0	0.743671	0.97443	0	0.723109	0.80598	0	0.564101	0.26826	0	.	.	5.72	-0.019	0.13286	2.453000	0.44627	0.955000	0.22950	-0.222000	0.07959	1.000000	0.71638	0.998000	0.33993	0.068000	0.16518	0.1083:0.3121:0.5158:0.0637	8.663	0.33263	576	0.70006	Glucose-methanol-choline oxidoreductase, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	908.63	34	chr3	53823399	.	C	T	908.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.243;DP=269;ExcessHet=0;FS=2.696;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.56;ReadPosRankSum=0.77;SOR=0.886	GT:AD:DP:GQ:PL	0/1:52,43:95:99:919,0,1141	6	0	1	0
chr3	53855341	53855341	G	A	exonic	IL17RB	.	nonsynonymous SNV	IL17RB:NM_018725:exon6:c.G529A:p.G177R	.	423	1082	16	1	0	18	0.00824931	1.0000	0.934	.	3409327	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.197	.	0.0051	0.00379393	0.0045	0.0013	0.0013	0.0001	0.0020	0.0055	0.0037	0.0079	0.0042561	658	154602	rs2232337	0.0061	0.0062	0.0059	0.0062	0.0077	0.0060	0.0059	0.0072	0.0070	0.0009	0.0026	0.0013	0.0001	0.0022	0.0070	0.0068	0.0059	0.0077	0.0047	0.0047	0.0049	0.0045	0.0083	0.0044	0.0043	0.0067	0.0065	0.0012	0.0241	0.0048	0.0009	0.0004	0.0022	0.0068	0.0073	0.0033	0.0083	0.003	0.68238	D	0.042	0.50226	D	1.0	0.90584	D	0.976	0.73562	D	0.030850	0.25250	N	0.370902	0.998	0.43943	D	2.79	0.81396	M	1.97	0.22067	T	-6.02	0.89684	D	0.547	0.57348	-1.0299	0.20487	T	0.105	0.38390	T	10	0.009253383	0.00209	T	0.008529	0.22557	T	0.197	0.47942	0.249	0.18602	0.32580497728	0.32196	0.6666667538832183	0.66604	0.438844640856	0.43915	0.470101684332	0.34693	T	0.29966	0.67218	T	-0.375446	0.03327	T	-0.307513	0.43926	T	0.0302302730637096	0.02025	T	0.839916	0.51465	T	0.87959445	0.89633	0.7995634	0.88242	0.87959445	0.89634	0.7995634	0.88243	-9.562	0.71244	D	.	.	0.927	0.84729	P	.	.	6.482312	0.95283	34	0.99931107679262343	0.99387	0.97669	0.76290	D	AEFDBI	0.708104	0.66262	D	0.706036327656051	0.80028	7.204421	0.679326305298717	0.80814	7.382819	0.999999999768077	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.586402	0.36253	0	.	.	6.04	6.04	0.98025	4.954000	0.63335	11.419000	0.92710	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.671000	0.33280	0.0:0.0:1.0:0.0	16.095	0.80923	587	0.69154	.	.	.	.	.	.	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	0.006579	0.010101	0.009537	0.008772	0.000000	0.008621	0.003106	0.003817	0.08333	371.27	22	chr3	53855341	.	G	A	371.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.52;DP=183;ExcessHet=0;FS=1.249;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.84;ReadPosRankSum=-1.4;SOR=1.049	GT:AD:DP:GQ:PL	0/1:26,16:42:99:381,0,552	5	0	1	1
chr3	53876082	53876082	-	GG	splicing	ACTR8	NM_022899:exon7:c.779-2->CC	.	.	.	440	839	208	22	13	265	0.13057	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0086	0.00119808	0.0059	0.0165	0.0021	0.0132	0.0013	0.0045	0.0023	0.0062	0.0003842	10	26028	rs370490982	0.0026	0.0080	0.0026	0.0026	0.0129	0.0025	0.0025	0.0118	0.0114	0.0129	0.0022	0.0001	0.0035	0.0017	0.0011	0.0024	0.0025	0.0029	0.0053	0.0053	0.0053	0.0052	0.0128	0.0050	0.0048	0.0119	0.0115	0.0128	0	0.0067	0.0003	0.0048	0.0004	0	0.0019	0.0044	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	2538.24	61	chr3	53876082	.	T	TGG	2538.24	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.844;DP=347;ExcessHet=0.3476;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.2;ReadPosRankSum=2.56;SOR=0.637	GT:AD:DP:GQ:PL	0/1:47,59:106:99:1967,0,1546	6	0	1	0
chr3	74369922	74369922	G	A	exonic	CNTN3	.	nonsynonymous SNV	CNTN3:NM_020872:exon6:c.C728T:p.S243L	.	442	1052	26	2	0	30	0.0140581	.	.	.	698291	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.450	.	0.0005	0.00658946	0.0061	0.0004	0.0008	0	0	0.0007	0.0011	0.0407	0.0051487	796	154602	rs139461362	0.0027	0.0027	0.0015	0.0039	0.0380	0.0027	0.0026	0.0369	0.0364	9.067e-05	0.0004	3.844e-05	2.541e-05	7.496e-05	0.0078	0.0004	0.0025	0.0380	0.0015	0.0015	0.0009	0.0022	0.0336	0.0014	0.0013	0.0294	0.0278	0.0001	0	0.0002	0.0003	0.0002	0	0.0136	0.0008	0.0019	0.0336	0.058	0.37750	T	0.038	0.51421	D	0.002	0.09854	B	0.032	0.22131	B	0.000149	0.49130	D	0.144541	0.999882	0.50402	D	2.52	0.73523	M	-4.01	0.96370	D	-3.61	0.69477	D	0.235	0.26475	0.467	0.90073	D	0.822	0.94015	D	10	0.0074414015	0.00169	T	.	.	.	0.450	0.75074	.	.	0.897436257175	0.89642	0.7006975414544631	0.70010	0.375138292621	0.38969	0.569997549057	0.48678	T	0.205802	0.56497	T	-0.229544	0.16710	T	-0.0739319	0.65345	T	0.103036878257621	0.12687	T	0.926707	0.72990	D	0.35272086	0.57278	0.30565733	0.56592	0.35272086	0.57278	0.30565733	0.56591	-8.638	0.65339	D	.	.	0.181	0.39442	B	.	.	5.062275	0.84388	28.3	0.99662083930897594	0.78011	0.95924	0.66744	D	AEFI	0.661484	0.63169	D	0.0830567692715343	0.45672	2.819935	0.262671005703629	0.53374	3.506651	0.973537456114881	0.29464	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.32	5.32	0.75377	5.414000	0.66145	9.707000	0.81321	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:0.0:1.0:0.0	19.358	0.94413	890	0.26919	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009063	0.000000	0.004076	0.008772	0.000000	0.034483	0.003049	0.030303	0.07143	653.53	33	chr3	74369922	.	G	A	653.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.842;DP=238;ExcessHet=0;FS=2.095;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.37;ReadPosRankSum=1.12;SOR=0.673	GT:AD:DP:GQ:PL	0/1:31,32:63:99:664,0,646	6	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	10882.8	91	chr3	75730451	.	T	G	10882.8	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-1.742;DP=592;ExcessHet=3.6764;FS=3.315;MLEAC=7;MLEAF=0.5;MQ=54.76;MQRankSum=-5.737;QD=20.57;ReadPosRankSum=0.391;SOR=0.483	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:42,44:86:99:0|1:75730450_C_T:1696,0,1631:75730450	1	1	5	0
chr3	75730611	75730611	G	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001324027:exon7:c.C2236A:p.L746I	.	434	899	189	0	0	189	0.0951183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0330413	860	26028	rs73841587	5.455e-06	4.771e-06	3.964e-06	6.718e-06	9.364e-05	1.45e-06	4e-07	2.481e-05	1.287e-05	0	0	0	9.364e-05	0	0	0	0	0	6.571e-06	6.567e-06	0	1.345e-05	.	0	0	.	.	0	0	0	0	0	9.418e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3571	667.31	49	chr3	75730611	.	G	T	667.31	.	AC=5;AF=0.357;AN=14;BaseQRankSum=1.38;DP=365;ExcessHet=4.7409;FS=65.71;MLEAC=5;MLEAF=0.357;MQ=56.75;MQRankSum=-7.384;QD=2.17;ReadPosRankSum=-2.389;SOR=6.224	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:59,8:67:99:0|1:75730611_G_T:144,0,2322:75730611	2	0	5	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	2416.31	91	chr3	75736884	.	G	GA	2416.31	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-0.592;DP=725;ExcessHet=4.7409;FS=3.225;MLEAC=5;MLEAF=0.357;MQ=56.69;MQRankSum=-6.418;QD=4.13;ReadPosRankSum=1.28;SOR=0.472	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:78,13:91:99:.:.:107,0,2946:.	2	0	5	0
chr3	75736891	75736891	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C2732T:p.S911F,ZNF717:NM_001290208:exon5:c.C2732T:p.S911F,ZNF717:NM_001290209:exon5:c.C2582T:p.S861F	.	413	564	544	0	1	545	0.325359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.00165921998894	.	.	.	.	.	.	.	.	.	.	0.0107192	279	26028	rs77747132	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.42783	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.22	0.07024	T	-1.16	0.29727	N	0.094	0.07398	-0.9320	0.43844	T	0.010	0.03856	T	9	0.06138295	0.07688	T	0.001659	0.02728	T	0.061	0.17616	.	.	0.0138822411134	0.00435	0.004917126878572224	0.00463	.	.	0.422835052013	0.28227	T	.	.	.	-0.173524	0.24704	T	-0.487032	0.23703	T	0.330072145045039	0.26228	T	0.353565	0.07967	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	0.36732	B	.	.	1.343956	0.17510	13.20	0.99194171637765427	0.55083	0.00118	0.00744	N	AEFDBCI	0.022343	0.01105	N	-1.23987897260233	0.04434	0.2001198	-1.31939943106607	0.04180	0.1966005	0.999947639461096	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.54	-0.734	0.10579	-0.650000	0.05477	.	.	0.542000	0.25261	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.3382:0.0:0.6618:0.0	5.509	0.16158	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4167	6117.79	97	chr3	75736891	.	G	A	6117.79	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-0.958;DP=732;ExcessHet=6.1542;FS=3.524;MLEAC=5;MLEAF=0.417;MQ=56.66;MQRankSum=-6.731;QD=9.98;ReadPosRankSum=1.2;SOR=0.473	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,32:98:99:0|1:75736891_G_A:1105,0,2651:75736891	1	0	5	1
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	.	.	.	.	.	.	.	.	0.4167	6023.79	105	chr3	75736920	.	C	A	6023.79	.	AC=5;AF=0.417;AN=12;BaseQRankSum=0.206;DP=769;ExcessHet=6.1542;FS=1.251;MLEAC=5;MLEAF=0.417;MQ=55.16;MQRankSum=-6.694;QD=9.3;ReadPosRankSum=0.441;SOR=0.559	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:74,28:102:99:0|1:75736891_G_A:953,0,3023:75736891	1	0	5	1
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	.	.	.	.	.	.	.	.	0.4167	5966.79	110	chr3	75736928	.	C	T	5966.79	.	AC=5;AF=0.417;AN=12;BaseQRankSum=1.9;DP=764;ExcessHet=6.1542;FS=1.985;MLEAC=5;MLEAF=0.417;MQ=54.58;MQRankSum=-7.092;QD=9.27;ReadPosRankSum=-0.328;SOR=0.625	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,26:99:99:0|1:75736891_G_A:872,0,2987:75736891	1	0	5	1
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	.	.	.	.	.	.	.	.	0.4167	3640.72	111	chr3	75736981	.	T	C	3640.72	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-0.791;DP=780;ExcessHet=6.1542;FS=0;MLEAC=5;MLEAF=0.417;MQ=52.71;MQRankSum=-4.821;QD=5.67;ReadPosRankSum=-2.194;SOR=0.674	GT:AD:DP:GQ:PL	0/1:84,20:104:99:309,0,2431	1	0	5	1
chr3	75737012	75737012	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2611A:p.E871K,ZNF717:NM_001290208:exon5:c.G2611A:p.E871K,ZNF717:NM_001290209:exon5:c.G2461A:p.E821K	.	386	662	466	8	0	482	0.266888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.0010545400782	.	.	.	.	.	.	.	.	.	.	0.0444521	1157	26028	rs75096310	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.934	0.02228	T	0.289	0.21078	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.16	0.19166	T	-0.66	0.19085	N	0.072	0.04547	-0.9570	0.39735	T	0.015	0.05946	T	9	0.029257268	0.01053	T	0.001055	0.01191	T	0.117	0.32689	.	.	0.0138822411134	0.00435	0.0019455304358727955	0.00180	.	.	0.341237813234	0.16623	T	.	.	.	-0.238107	0.15590	T	-0.5798	0.14563	T	0.0632113878371354	0.07664	T	0.059894	0.00434	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.26200	B	.	.	1.575632	0.20165	14.62	0.84215655419281732	0.15163	0.00232	0.01297	N	AEFDBHCI	0.027833	0.02344	N	-1.41055986614139	0.02545	0.1125291	-1.43935631045541	0.02868	0.1327212	0.999943869570154	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.517114	0.09559	2	0.756233	0.99697	0	.	.	1.92	-0.00832	0.13329	-3.006000	0.00714	.	.	-1.281000	0.01268	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2577:0.4021:0.0:0.3403	2.041	0.03335	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4167	5397.79	132	chr3	75737012	.	C	T	5397.79	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-1.22;DP=798;ExcessHet=6.1542;FS=0;MLEAC=5;MLEAF=0.417;MQ=53.23;MQRankSum=-4.663;QD=8.1;ReadPosRankSum=-1.168;SOR=0.684	GT:AD:DP:GQ:PL	0/1:77,28:105:99:582,0,2252	1	0	5	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	9255.85	148	chr3	75737060	.	A	G	9255.85	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-1.535;DP=881;ExcessHet=3.6764;FS=1.107;MLEAC=7;MLEAF=0.5;MQ=53.38;MQRankSum=-5.265;QD=12.32;ReadPosRankSum=1.24;SOR=0.597	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:75,36:111:99:.:.:775,0,2399:.	1	1	5	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	13633.8	135	chr3	75737092	.	C	T	13633.8	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-2.219;DP=904;ExcessHet=3.6764;FS=1.095;MLEAC=7;MLEAF=0.5;MQ=54.9;MQRankSum=-7.465;QD=17.59;ReadPosRankSum=0.982;SOR=0.802	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:72,46:118:99:0|1:75737092_C_T:1695,0,2859:75737092	1	1	5	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	13457.8	134	chr3	75737094	.	T	A	13457.8	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-1.999;DP=893;ExcessHet=3.6764;FS=1.104;MLEAC=7;MLEAF=0.5;MQ=55.1;MQRankSum=-7.727;QD=17.48;ReadPosRankSum=0.701;SOR=0.804	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:72,47:119:99:0|1:75737092_C_T:1737,0,2882:75737092	1	1	5	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	12688.8	128	chr3	75737105	.	T	A	12688.8	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-2.611;DP=850;ExcessHet=3.6764;FS=1.769;MLEAC=7;MLEAF=0.5;MQ=55.69;MQRankSum=-8.189;QD=16.96;ReadPosRankSum=0.071;SOR=0.849	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:74,47:121:99:0|1:75737092_C_T:1751,0,2966:75737092	1	1	5	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	.	.	.	.	.	.	.	.	0.4286	10476.5	115	chr3	75737127	.	A	C	10476.5	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-1.467;DP=801;ExcessHet=8.2628;FS=3.274;MLEAC=6;MLEAF=0.429;MQ=56.32;MQRankSum=-7.966;QD=14.92;ReadPosRankSum=0.637;SOR=0.962	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:68,45:113:99:0|1:75737092_C_T:1685,0,2720:75737092	1	0	6	0
chr3	75737164	75737172	CTACATTCT	-	exonic	ZNF717	.	nonframeshift deletion	ZNF717:NM_001128223:exon5:c.2451_2459del:p.E818_R820del,ZNF717:NM_001290208:exon5:c.2451_2459del:p.E818_R820del,ZNF717:NM_001290209:exon5:c.2301_2309del:p.E768_R770del	.	392	660	463	7	0	477	0.265442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012256	319	26028	rs66703079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	5788.44	92	chr3	75737163	.	CCTACATTCT	C	5788.44	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-1.039;DP=689;ExcessHet=8.2628;FS=6.808;MLEAC=6;MLEAF=0.429;MQ=56.82;MQRankSum=-7.58;QD=9.91;ReadPosRankSum=0.068;SOR=1.205	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:65,32:97:99:0|1:75737092_C_T:1148,0,2604:75737092	1	0	6	0
chr3	75737228	75737228	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2395G:p.T799A,ZNF717:NM_001290208:exon5:c.A2395G:p.T799A,ZNF717:NM_001290209:exon5:c.A2245G:p.T749A	.	388	1009	125	0	0	125	0.0583294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00065624303644	.	.	.	.	.	.	.	.	.	.	0.161595	4206	26028	rs80170761	1.428e-06	1.368e-06	1.409e-06	1.447e-06	1.852e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.852e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.475	0.08359	T	0.182	0.29249	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.5	0.14408	T	-0.37	0.13226	N	0.031	0.00770	-0.9782	0.35413	T	0.017	0.07092	T	9	0.04005146	0.02542	T	6.56E-4	0.00350	T	0.015	0.02232	.	.	0.0138822411134	0.00435	0.0025070030530107983	0.00232	.	.	0.570732712746	0.48781	T	.	.	.	-0.29288	0.09349	T	-0.658479	0.08369	T	0.0214846075820914	0.00852	T	0.448455	0.12604	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.17189	B	.	.	0.201526	0.05865	2.303	0.46300880358559965	0.03698	0.00280	0.01512	N	AEFDBHCI	0.025509	0.01757	N	-1.44896954151032	0.02225	0.09801469	-1.50829558445683	0.02280	0.1046078	0.999662543695307	0.41534	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.79	0.509	0.16177	-3.477000	0.00510	.	.	-0.233000	0.07663	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4406:0.0:0.0:0.5593	4.801	0.12662	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	464.81	90	chr3	75737228	.	T	C	464.81	.	AC=2;AF=0.167;AN=12;BaseQRankSum=3.56;DP=570;ExcessHet=0.4139;FS=32.284;MLEAC=2;MLEAF=0.167;MQ=57.64;MQRankSum=-8.268;QD=2.61;ReadPosRankSum=-2.151;SOR=3.094	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:60,10:70:99:0|1:75737228_T_C:239,0,2473:75737228	4	0	2	1
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	.	.	.	.	.	.	.	.	0.3571	17345.3	136	chr3	75737519	.	G	A	17345.3	.	AC=5;AF=0.357;AN=14;BaseQRankSum=0.36;DP=884;ExcessHet=4.7409;FS=3.313;MLEAC=5;MLEAF=0.357;MQ=55.92;MQRankSum=-5.949;QD=22.97;ReadPosRankSum=-0.619;SOR=0.774	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,66:143:99:0|1:75737519_G_A:2434,0,2786:75737519	2	0	5	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	.	.	.	.	.	.	.	.	0.4286	19118.5	151	chr3	75737590	.	A	G	19118.5	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-1.382;DP=1036;ExcessHet=8.2628;FS=1.103;MLEAC=6;MLEAF=0.429;MQ=52.32;MQRankSum=-10.59;QD=20.76;ReadPosRankSum=0.96;SOR=0.791	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:84,72:156:99:0|1:75737586_A_T:2770,0,3305:75737586	1	0	6	0
chr3	75737608	75737608	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2015G:p.K672R,ZNF717:NM_001290208:exon5:c.A2015G:p.K672R,ZNF717:NM_001290209:exon5:c.A1865G:p.K622R,ZNF717:NM_001324027:exon5:c.A2015G:p.K672R	.	399	323	791	9	0	809	0.556014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.003971670348	.	.	.	.	.	.	.	.	.	.	0.0466805	1215	26028	rs75759940	4.311e-06	4.109e-06	2.835e-06	5.828e-06	5.588e-06	1.55e-06	1.02e-06	2.01e-06	1.32e-06	0	0	0	0	0	0	5.588e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.46513	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	3.16	0.07711	T	-0.9	0.24244	N	0.034	0.00942	-0.9500	0.40972	T	0.008	0.02926	T	9	0.049818516	0.04624	T	0.003972	0.09400	T	0.059	0.16972	.	.	0.0138822411134	0.00435	0.005655336952012324	0.00535	.	.	0.307848095894	0.11582	T	.	.	.	-0.255831	0.13391	T	-0.60526	0.12373	T	0.0589383841193725	0.07000	T	0.19898	0.02226	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.13268	B	.	.	1.223152	0.16170	12.37	0.86139736186920213	0.16339	0.00629	0.02767	N	AEDBHCI	0.051131	0.09005	N	-1.64554763938136	0.01054	0.04572823	-1.67922087383407	0.01232	0.05551315	0.99998526063166	0.51787	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.57	-3.14	0.04928	-0.248000	0.08872	.	.	-1.039000	0.01670	0.792000	0.29619	0.000000	0.08366	0.001000	0.02609	0.0:0.4304:0.3244:0.2451	4.750	0.12430	987	0.02648	Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4286	20118.5	159	chr3	75737608	.	T	C	20118.5	.	AC=6;AF=0.429;AN=14;BaseQRankSum=0;DP=1080;ExcessHet=8.2628;FS=0.522;MLEAC=6;MLEAF=0.429;MQ=52.21;MQRankSum=-11.48;QD=20.81;ReadPosRankSum=1.44;SOR=0.769	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:88,73:161:99:0|1:75737586_A_T:2800,0,3475:75737586	1	0	6	0
chr3	75737622	75737622	T	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2001T:p.R667S,ZNF717:NM_001290208:exon5:c.A2001T:p.R667S,ZNF717:NM_001290209:exon5:c.A1851T:p.R617S,ZNF717:NM_001324027:exon5:c.A2001T:p.R667S	.	390	339	783	10	0	803	0.542201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	0.00187641351265	.	.	.	.	.	.	.	.	.	.	0.0503688	1311	26028	rs76175438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.49613	D	0.042	0.50226	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	2.96	0.09542	T	-3.88	0.72710	D	0.189	0.20660	-1.0544	0.13198	T	0.045	0.19478	T	9	0.11718443	0.22126	T	0.001876	0.03272	T	0.148	0.39182	.	.	0.0138822411134	0.00435	0.02830632002622666	0.02780	.	.	0.34867143631	0.17727	T	.	.	.	-0.180088	0.23722	T	-0.496461	0.22715	T	0.343506299687112	0.26762	T	0.413359	0.10763	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.582	0.68127	P	.	.	2.295364	0.29365	18.10	0.84579906210778943	0.15375	0.01716	0.05441	N	AEFDBHCI	0.093535	0.18923	N	-0.671626443351997	0.16833	0.8611102	-0.960126716317775	0.10688	0.5399544	0.999967844770143	0.48965	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.71	0.405	0.15579	-1.876000	0.01725	.	.	0.551000	0.28136	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.2583:0.0:0.0:0.7417	5.213	0.14647	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4286	20414.5	161	chr3	75737622	.	T	A	20414.5	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-1.071;DP=1104;ExcessHet=8.2628;FS=0;MLEAC=6;MLEAF=0.429;MQ=52.69;MQRankSum=-11.03;QD=20.66;ReadPosRankSum=0.403;SOR=0.696	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:91,76:167:99:0|1:75737586_A_T:2917,0,3592:75737586	1	0	6	0
chr3	75737651	75737651	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C1972T:p.R658C,ZNF717:NM_001290208:exon5:c.C1972T:p.R658C,ZNF717:NM_001290209:exon5:c.C1822T:p.R608C,ZNF717:NM_001324027:exon5:c.C1972T:p.R658C	.	400	343	772	7	0	786	0.533967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.00153184105349	.	.	.	.	.	.	.	.	.	.	0.0285462	743	26028	rs77826574	6.031e-05	7.327e-05	6.658e-05	5.386e-05	0.0004	4.978e-05	4.582e-05	9.298e-05	6.561e-05	3.182e-05	0.0002	0	5.661e-05	0	0.0004	5.584e-05	0.0001	7.603e-05	5.383e-05	7.906e-05	6.569e-05	4.138e-05	0.0002	2.611e-05	1.869e-05	1.982e-05	1.131e-05	5.043e-05	0	6.658e-05	0	0	0	0	5.922e-05	0	0.0002	0.067	0.35918	T	0.169	0.30534	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	5.42	0.00999	T	-3.07	0.63207	D	0.105	0.08925	-0.8711	0.50446	T	0.003	0.01026	T	9	0.085398704	0.14414	T	0.001532	0.02394	T	0.133	0.36157	.	.	0.0482279557977	0.04254	0.024591376914232316	0.02410	.	.	0.41199272871	0.26732	T	.	.	.	-0.203544	0.20296	T	-0.530154	0.19270	T	0.177544683043135	0.19078	T	0.0464954	0.00331	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238	0.47195	B	.	.	1.962068	0.24926	16.58	0.86866792728357911	0.16827	0.00357	0.01833	N	AEFDBHCI	0.053804	0.09728	N	-0.680381306712077	0.16582	0.8460908	-0.915126681668579	0.11737	0.5997874	0.999961843561367	0.48965	0.460665	0.09802	0	0.546412	0.12157	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.71	0.774	0.17665	-0.426000	0.07076	.	.	-0.244000	0.07312	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.185:0.0:0.5297:0.2853	2.500	0.04348	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4286	20048.5	160	chr3	75737651	.	G	A	20048.5	.	AC=6;AF=0.429;AN=14;BaseQRankSum=2.25;DP=1124;ExcessHet=8.2628;FS=1.1;MLEAC=6;MLEAF=0.429;MQ=53.82;MQRankSum=-10.07;QD=19.95;ReadPosRankSum=-0.18;SOR=0.756	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:90,77:167:99:0|1:75737586_A_T:2962,0,3534:75737586	1	0	6	0
chr3	75737676	75737676	A	T	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.T1947A:p.C649X,ZNF717:NM_001290208:exon5:c.T1947A:p.C649X,ZNF717:NM_001290209:exon5:c.T1797A:p.C599X,ZNF717:NM_001324027:exon5:c.T1947A:p.C649X	.	512	238	765	7	0	779	0.620717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0560934	1460	26028	rs79635065	0	6.854e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.025	0.00485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.356406	0.86974	D	0.274176	0.86805	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.913720	0.80871	27.4	0.97584058415749686	0.34753	0.02032	0.06091	N	AEFDBHCI	0.117194	0.22969	N	-0.0787027714682291	0.38328	2.243117	-0.47253526279424	0.22914	1.246949	0.999961225158915	0.48965	0.460665	0.09802	0	0.546412	0.12157	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.71	1.71	0.23429	0.625000	0.24171	.	.	0.517000	0.23534	0.432000	0.26424	0.000000	0.08366	0.002000	0.04165	0.6786:0.0:0.0:0.3214	3.984	0.08997	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	18382.8	143	chr3	75737676	.	A	T	18382.8	.	AC=7;AF=0.5;AN=14;BaseQRankSum=1.66;DP=1052;ExcessHet=3.6764;FS=3.172;MLEAC=7;MLEAF=0.5;MQ=54.49;MQRankSum=-8.507;QD=19.7;ReadPosRankSum=-0.816;SOR=0.646	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:81,73:154:99:0|1:75737586_A_T:2821,0,3181:75737586	1	1	5	0
chr3	75737840	75737840	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1783A:p.E595K,ZNF717:NM_001290208:exon5:c.G1783A:p.E595K,ZNF717:NM_001290209:exon5:c.G1633A:p.E545K,ZNF717:NM_001324027:exon5:c.G1783A:p.E595K	.	370	419	727	6	0	739	0.468611	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.000881827712362	.	.	.	.	.	.	.	.	.	.	0.0177117	461	26028	rs76496075	2.859e-06	4.104e-06	4.231e-06	1.449e-06	3.707e-06	6.7e-07	4.5e-07	8.7e-07	5.9e-07	0	0	0	0	0	0	3.707e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.30656	T	0.022	0.57587	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.2	0.07236	T	-2.3	0.51157	N	0.164	0.17278	-1.0162	0.24948	T	0.024	0.10058	T	9	0.10873449	0.20253	T	8.82E-4	0.00800	T	0.063	0.18251	.	.	0.0138822411134	0.00435	0.00774685412423065	0.00739	.	.	0.43924510479	0.30473	T	.	.	.	-0.112376	0.34376	T	-0.399197	0.33477	T	0.387678323599846	0.28476	T	0.0947905	0.00704	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	0.41357	B	.	.	1.271536	0.16702	12.71	0.99193801633277179	0.55053	0.00456	0.02204	N	AEFDBHCI	0.032518	0.03688	N	-0.56728006039535	0.19945	1.047804	-0.791629829841235	0.14701	0.7694518	0.999948745414493	0.47345	0.0	0.00013	3	0.636889	0.57051	0	0.473483	0.07196	2	0.0	0.00009	3	.	.	1.9	0.993	0.18943	-0.240000	0.08970	.	.	0.415000	0.20742	0.000000	0.06391	0.000000	0.08366	0.023000	0.12082	0.0:0.8279:0.0:0.1721	6.443	0.21064	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	6783.1	144	chr3	75737840	.	C	T	6783.1	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-1.503;DP=1016;ExcessHet=1.4958;FS=8.807;MLEAC=6;MLEAF=0.5;MQ=58.64;MQRankSum=-4.22;QD=11.6;ReadPosRankSum=-0.374;SOR=0.756	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:81,59:140:99:1|0:75737791_C_A:2176,0,3112:75737791	1	1	4	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	.	.	.	.	.	.	.	.	0.4286	5482.48	133	chr3	75737881	.	T	C	5482.48	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-1.344;DP=923;ExcessHet=8.2628;FS=16.594;MLEAC=6;MLEAF=0.429;MQ=58.05;MQRankSum=-5.768;QD=6.98;ReadPosRankSum=-3.256;SOR=1.294	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:73,32:105:99:.:.:903,0,2087:.	1	0	6	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	4137.44	128	chr3	75737891	.	G	GAAAT	4137.44	.	AC=6;AF=0.429;AN=14;BaseQRankSum=1.04;DP=874;ExcessHet=8.2628;FS=18.679;MLEAC=6;MLEAF=0.429;MQ=57.87;MQRankSum=-7.28;QD=5.55;ReadPosRankSum=-2.558;SOR=1.594	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:79,20:99:99:0|1:75737891_G_GAAAT:525,0,3228:75737891	1	0	6	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	4099.44	122	chr3	75737893	.	A	ACTT	4099.44	.	AC=6;AF=0.429;AN=14;BaseQRankSum=0.181;DP=856;ExcessHet=8.2628;FS=19.985;MLEAC=6;MLEAF=0.429;MQ=57.78;MQRankSum=-7.524;QD=5.65;ReadPosRankSum=-2.157;SOR=1.749	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,22:100:99:0|1:75737891_G_GAAAT:609,0,3200:75737891	1	0	6	0
chr3	75737948	75737949	CT	-	exonic	ZNF717	.	frameshift deletion	ZNF717:NM_001128223:exon5:c.1674_1675del:p.E560Kfs*4,ZNF717:NM_001290208:exon5:c.1674_1675del:p.E560Kfs*4,ZNF717:NM_001290209:exon5:c.1524_1525del:p.E510Kfs*4,ZNF717:NM_001324027:exon5:c.1674_1675del:p.E560Kfs*4	.	376	813	333	0	0	333	0.169985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008837	23	26028	rs74340838	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	0	0.0001	0	0.0002	0.0001	0.0002	0.0002	0.0001	0.0001	7.71e-05	0.0002	0.0003	8.659e-05	7.251e-05	0.0001	8.279e-05	4.816e-05	0	0.0003	0	0	0	0	0.0002	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	621.5	137	chr3	75737947	.	CCT	C	621.5	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.801;DP=873;ExcessHet=0;FS=21.818;MLEAC=1;MLEAF=0.071;MQ=58.03;MQRankSum=-6.966;QD=5.22;ReadPosRankSum=1.07;SOR=1.692	GT:AD:DP:GQ:PL	0/1:97,22:119:99:632,0,3907	6	0	1	0
chr3	75738008	75738008	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1615A:p.E539K,ZNF717:NM_001290208:exon5:c.G1615A:p.E539K,ZNF717:NM_001290209:exon5:c.G1465A:p.E489K,ZNF717:NM_001324027:exon5:c.G1615A:p.E539K	.	374	899	248	1	0	250	0.12207	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00103100052401	.	.	0.0035	0	0	0	0	0.0041	0	0.0070	0.0381512	993	26028	rs77322475	0.0003	0.0005	0.0003	0.0004	0.0006	0.0003	0.0003	0.0005	0.0004	0.0002	3.974e-05	0.0002	0	2.459e-05	0	0.0004	0.0002	0.0006	0.0003	0.0004	0.0003	0.0004	0.0054	0.0003	0.0002	0.0038	0.0032	0.0001	0	0	0.0003	0	9.43e-05	0	0.0002	0.0009	0.0054	0.057	0.37966	T	0.059	0.45961	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.2	0.07236	T	-2.57	0.55501	D	0.164	0.17278	-0.9770	0.35683	T	0.011	0.04042	T	9	0.006899923	0.00157	T	0.001031	0.01144	T	0.040	0.10527	.	.	0.0138822411134	0.00435	0.004688527706481307	0.00441	.	.	0.455887436867	0.32748	T	.	.	.	-0.247215	0.14443	T	-0.592883	0.13417	T	0.0202189277908029	0.00722	T	0.157184	0.01392	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.163	0.35931	B	.	.	0.663217	0.10314	7.047	0.74861509555931272	0.10855	0.00293	0.01568	N	AEFDBHCIJ	0.019046	0.00627	N	-1.65826808888533	0.01001	0.04337943	-1.78840371790065	0.00797	0.0355687	0.999985886557565	0.51787	0.566229	0.32551	0	0.615513	0.52658	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.8	-3.59	0.04290	-1.723000	0.01966	.	.	-1.085000	0.01553	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1742:0.3948:0.172:0.259	0.971	0.01326	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2143	1321.76	158	chr3	75738008	.	C	T	1321.76	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-2.205;DP=1052;ExcessHet=1.1394;FS=1.764;MLEAC=3;MLEAF=0.214;MQ=57.58;MQRankSum=-11.86;QD=2.36;ReadPosRankSum=2.76;SOR=0.963	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:137,28:165:99:0|1:75737994_T_C:750,0,5623:75737994	4	0	3	0
chr3	75738053	75738053	C	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1570T:p.V524F,ZNF717:NM_001290208:exon5:c.G1570T:p.V524F,ZNF717:NM_001290209:exon5:c.G1420T:p.V474F,ZNF717:NM_001324027:exon5:c.G1570T:p.V524F	.	359	1071	92	0	0	92	0.0411817	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.00104650146877	.	.	.	.	.	.	.	.	.	.	.	.	.	rs75063165	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.39820	D	0.157	0.31730	T	.	.	.	.	.	.	.	.	.	.	1	0.19072	N	.	.	.	3.18	0.07478	T	-2.6	0.55983	D	0.148	0.15046	-1.0173	0.24592	T	0.014	0.05753	T	9	0.11586878	0.21842	T	0.001047	0.01191	T	0.074	0.21613	.	.	0.0138822411134	0.00435	0.0034182461744823667	0.00319	.	.	0.563414692879	0.47750	T	.	.	.	-0.246862	0.14487	T	-0.592376	0.13461	T	0.28954122460075	0.24571	T	0.0661934	0.00482	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.411	0.60172	A	.	.	0.533719	0.09024	5.806	0.95230003730299473	0.26460	0.00215	0.01220	N	AEFDBHCIJ	0.026943	0.02113	N	-1.1142521379857	0.06388	0.2939498	-1.36117125995018	0.03676	0.1719606	0.99999365082094	0.74766	0.566229	0.32551	0	0.615513	0.52658	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.79	-3.58	0.04303	-3.170000	0.00633	.	.	-2.136000	0.00379	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2892:0.3399:0.3708	4.138	0.09647	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2143	854.73	132	chr3	75738053	.	C	A	854.73	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-1.637;DP=1037;ExcessHet=1.1394;FS=3.146;MLEAC=3;MLEAF=0.214;MQ=57.81;MQRankSum=-10.74;QD=1.6;ReadPosRankSum=-1.046;SOR=1.04	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:156,23:179:99:0|1:75737994_T_C:496,0,6481:75737994	4	0	3	0
chr3	75738071	75738071	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T1552C:p.C518R,ZNF717:NM_001290208:exon5:c.T1552C:p.C518R,ZNF717:NM_001290209:exon5:c.T1402C:p.C468R,ZNF717:NM_001324027:exon5:c.T1552C:p.C518R	.	356	1145	20	0	1	21	0.00865801	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.000738598015433	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs78680336	1.676e-06	1.383e-06	1.643e-06	1.712e-06	2.128e-06	2.8e-07	1e-07	3.5e-07	1.3e-07	0	0	0	0	0	0	2.128e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	0.11191	T	0.621	0.07419	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.21	0.07125	T	2.23	0.00314	N	0.019	0.00279	-0.9149	0.46233	T	0.007	0.02360	T	9	0.046755195	0.03906	T	7.39E-4	0.00510	T	0.031	0.07369	.	.	0.0138822411134	0.00435	0.002225550650649705	0.00206	.	.	0.525679767132	0.42426	T	.	.	.	-0.29785	0.08864	T	-0.665617	0.07892	T	0.0535102972529573	0.06106	T	0.0253975	0.00153	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304	0.53324	B	.	.	-1.114804	0.00623	0.016	0.37644118236720736	0.02493	0.00136	0.00836	N	AEFDBHCIJ	0.016194	0.00350	N	-1.60520409349473	0.01239	0.05388159	-1.61920287810212	0.01543	0.06989911	0.999942708847049	0.47345	0.566229	0.32551	0	0.615513	0.52658	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.79	-0.593	0.11083	-1.649000	0.02095	.	.	-2.516000	0.00258	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.17:0.0:0.3549:0.4751	2.786	0.05043	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	345.5	120	chr3	75738071	.	A	G	345.5	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.678;DP=1014;ExcessHet=0.3476;FS=5.489;MLEAC=2;MLEAF=0.143;MQ=58.12;MQRankSum=-10.36;QD=0.89;ReadPosRankSum=-1.169;SOR=1.383	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:157,15:172:99:0|1:75737994_T_C:157,0,6547:75737994	5	0	2	0
chr3	75738074	75738074	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C1549T:p.R517C,ZNF717:NM_001290208:exon5:c.C1549T:p.R517C,ZNF717:NM_001290209:exon5:c.C1399T:p.R467C,ZNF717:NM_001324027:exon5:c.C1549T:p.R517C	.	352	1156	14	0	0	14	0.00601892	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.00168171448549	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs370022573	2.178e-05	2.351e-05	2.299e-05	2.052e-05	7.637e-05	1.515e-05	1.287e-05	2.05e-05	1.277e-05	7.382e-05	0	0	7.637e-05	0	0	1.914e-05	0	6.214e-05	1.314e-05	2.625e-05	0	2.686e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.159	0.23813	T	0.3	0.20357	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.11	0.08194	T	-0.06	0.07882	N	0.048	0.01999	-0.9892	0.32803	T	0.016	0.06569	T	9	0.03303978	0.01470	T	0.001682	0.02779	T	0.059	0.16972	.	.	0.0138822411134	0.00435	0.002613494462515561	0.00242	.	.	0.5004529953	0.38892	T	.	.	.	-0.277008	0.10988	T	-0.635679	0.09988	T	0.0130366375576749	0.00227	T	0.0907909	0.00672	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.224	0.45520	B	.	.	0.194387	0.05799	2.242	0.73132658542385853	0.10218	0.00363	0.01856	N	AEFDBHCIJ	0.023887	0.01396	N	-1.62321359239289	0.01153	0.05010462	-1.76099622892232	0.00892	0.03989968	0.999989264977476	0.51787	0.460665	0.09802	0	0.636889	0.57051	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.79	-3.58	0.04303	-2.248000	0.01271	.	.	-5.905000	0.00006	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.629:0.1528:0.2182:0.0	5.171	0.14438	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	161.24	121	chr3	75738074	.	G	A	161.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.546;DP=993;ExcessHet=0.3476;FS=7.822;MLEAC=2;MLEAF=0.143;MQ=58.24;MQRankSum=-9.777;QD=0.43;ReadPosRankSum=-0.957;SOR=1.942	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:153,13:166:85:0|1:75737994_T_C:85,0,6385:75737994	5	0	2	0
chr3	75738077	75738077	A	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T1546G:p.F516V,ZNF717:NM_001290208:exon5:c.T1546G:p.F516V,ZNF717:NM_001290209:exon5:c.T1396G:p.F466V,ZNF717:NM_001324027:exon5:c.T1546G:p.F516V	.	351	1158	13	0	0	13	0.00558179	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.273	0.00436624551321	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs78763958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	0.99	0.41750	T	-6.9	0.93293	D	0.254	0.28732	-0.7956	0.55403	T	0.314	0.68424	T	9	0.37955025	0.54090	T	0.004366	0.10624	T	0.273	0.58883	.	.	0.134241683229	0.13084	0.004951265273006765	0.00467	.	.	0.695522069931	0.66498	T	.	.	.	-0.0135903	0.49761	T	-0.257298	0.49093	T	0.969250798225403	0.68526	D	0.390061	0.09662	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.758	0.75417	P	.	.	2.832235	0.37339	20.5	0.96884311371509557	0.31473	0.34734	0.25137	N	AEFDBHCIJ	0.282251	0.39563	N	0.258654387862171	0.54069	3.573403	-0.0427249932617247	0.37806	2.218651	0.999999981817215	0.74766	0.460665	0.09802	0	0.636889	0.57051	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.91	1.91	0.24841	4.720000	0.61636	.	.	0.610000	0.48991	0.993000	0.37899	0.919000	0.28284	0.003000	0.05239	1.0:0.0:0.0:0.0	7.900	0.28894	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	101.21	113	chr3	75738077	.	A	C	101.21	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.501;DP=975;ExcessHet=0.3476;FS=13.323;MLEAC=2;MLEAF=0.143;MQ=58.21;MQRankSum=-9.129;QD=0.28;ReadPosRankSum=-1.436;SOR=1.781	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:148,13:161:99:0|1:75737994_T_C:100,0,6175:75737994	5	0	2	0
chr3	75739165	75739165	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G458A:p.G153E,ZNF717:NM_001290208:exon5:c.G458A:p.G153E,ZNF717:NM_001290209:exon5:c.G308A:p.G103E,ZNF717:NM_001324027:exon5:c.G458A:p.G153E	.	426	716	379	1	0	381	0.210149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.00294703274024	.	.	.	.	.	.	.	.	.	.	0.0484862	1262	26028	rs79165653	3.574e-06	3.42e-06	1.411e-06	5.798e-06	0.0001	1.05e-06	7.6e-07	5.451e-05	3.56e-05	0	0	0	0.0001	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	0.20607	T	0.074	0.42976	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.0	0.41392	T	-2.66	0.56945	D	0.098	0.07949	-1.0050	0.28457	T	0.128	0.43625	T	9	0.097314626	0.17517	T	0.002947	0.06280	T	0.131	0.35738	.	.	0.0401082797425	0.02173	0.0035025799895356665	0.00327	.	.	0.341039121151	0.16594	T	.	.	.	-0.112133	0.34416	T	-0.398848	0.33517	T	0.425942718982697	0.29910	T	0.179282	0.01775	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.43032	B	.	.	0.873037	0.12461	8.992	0.65778472644257657	0.07869	0.01043	0.03895	N	AEFDBCI	.	.	.	-0.639186145779198	0.17776	0.9175853	-0.902737289243841	0.12029	0.6164352	0.999962026466227	0.48965	0.69289	0.55638	0	0.636889	0.57051	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	2.07	0.059	0.13643	0.766000	0.26225	.	.	0.439000	0.21057	0.011000	0.18532	0.000000	0.08366	0.002000	0.04165	0.0:0.638:0.2172:0.1447	5.008	0.13643	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2857	1141.66	74	chr3	75739165	.	C	T	1141.66	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-0.54;DP=575;ExcessHet=2.5225;FS=20.571;MLEAC=4;MLEAF=0.286;MQ=56.54;MQRankSum=-5.041;QD=3.23;ReadPosRankSum=-0.431;SOR=1.188	GT:AD:DP:GQ:PL	0/1:89,21:110:99:271,0,2557	3	0	4	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	.	.	.	.	.	.	.	.	0.4167	2193.79	45	chr3	75739283	.	G	T	2193.79	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-1.377;DP=386;ExcessHet=6.1542;FS=4.771;MLEAC=5;MLEAF=0.417;MQ=54.1;MQRankSum=-3.42;QD=6.99;ReadPosRankSum=0.077;SOR=0.956	GT:AD:DP:GQ:PL	0/1:26,30:56:99:667,0,657	1	0	5	1
chr3	77477527	77477527	A	G	exonic	ROBO2	.	nonsynonymous SNV	ROBO2:NM_001290039:exon3:c.A502G:p.K168E,ROBO2:NM_001290040:exon3:c.A502G:p.K168E,ROBO2:NM_001378192:exon3:c.A571G:p.K191E,ROBO2:NM_001378193:exon3:c.A502G:p.K168E,ROBO2:NM_001378194:exon3:c.A571G:p.K191E,ROBO2:NM_001378197:exon3:c.A502G:p.K168E,ROBO2:NM_001378198:exon3:c.A571G:p.K191E,ROBO2:NM_001378199:exon3:c.A571G:p.K191E,ROBO2:NM_001378202:exon3:c.A502G:p.K168E,ROBO2:NM_002942:exon3:c.A502G:p.K168E	Vesicoureteral reflux 2	6	1514	1	1	0	3	0.000989772	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.382	0.019457509585	0.0002	.	2.486e-05	0	0	0	0	4.5e-05	0	0	1.94e-05	3	154602	rs199597054	2.052e-05	2.052e-05	2.314e-05	1.788e-05	0.0007	1.456e-05	1.264e-05	0.0002	0.0001	0	2.236e-05	7.652e-05	0	0	0.0007	1.889e-05	1.656e-05	1.159e-05	1.314e-05	1.313e-05	0	2.69e-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	0.004	0.65419	D	0.005	0.76473	D	0.998	0.73220	D	0.965	0.71173	D	0.000184	0.48115	D	0.000000	.	.	.	0.18	0.09070	N	1.06	0.39781	T	-3.15	0.64132	D	0.7	0.71676	-0.8552	0.51606	T	0.183	0.53072	T	9	0.49842057	0.61404	T	0.019458	0.41828	T	0.382	0.69946	.	.	0.602053550974	0.59887	0.769726173721104	0.76921	0.730891318573	0.62727	0.681784570217	0.64525	T	0.54282	0.84377	D	0.0989007	0.64173	D	-0.0957124	0.63728	T	0.799856722354889	0.46343	D	0.968803	0.88706	D	0.6947109	0.77767	0.5741465	0.75332	0.6947109	0.77769	0.5741465	0.75333	-10.126	0.76455	D	.	.	0.788	0.77802	P	.;.;.;.;.	.;.;.;.;.	4.399582	0.67970	25.2	0.99892490887200514	0.96589	0.99737	0.99085	D	AEFI	0.928006	0.91155	D	0.666911423468878	0.77467	6.680311	0.703026760308266	0.82607	7.809473	0.999999148358569	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.58	5.58	0.84361	9.325000	0.96006	11.273000	0.91473	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	16.037	0.80437	860	0.33753	.;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	262.63	19	chr3	77477527	.	A	G	262.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.775;DP=156;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=-0.152;SOR=0.608	GT:AD:DP:GQ:PL	0/1:9,11:20:99:273,0,241	6	0	1	0
chr3	78651836	78651836	A	G	exonic	ROBO1	.	nonsynonymous SNV	ROBO1:NM_001145845:exon18:c.T2600C:p.I867T,ROBO1:NM_133631:exon18:c.T2600C:p.I867T,ROBO1:NM_002941:exon19:c.T2708C:p.I903T	.	421	1100	1	0	0	1	0.000454339	.	.	.	1312148	Inborn_genetic_diseases|Congenital_anomaly_of_kidney_and_urinary_tract	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0019719,MeSH:C566906,MedGen:C1968949,OMIM:PS610805,Orphanet:93545	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.363	0.0958957855335	.	.	6.628e-05	0.0003	0	0.0001	0	0	0	0.0002	5.17e-05	8	154602	rs746294354	3.558e-05	3.557e-05	3.268e-05	3.851e-05	0.0003	2.763e-05	2.502e-05	0.0002	0.0002	2.988e-05	0	0	5.038e-05	0	0	2.159e-05	3.313e-05	0.0003	5.258e-05	5.253e-05	5.139e-05	5.382e-05	0.0002	2.558e-05	1.83e-05	6.283e-05	4.3e-05	0.0001	0	0	0	0	0	0	1.47e-05	0	0.0002	0.013	0.53900	D	0.006	0.70582	D	1.0	0.90584	D	0.99	0.78936	D	0.000000	0.84330	D	0.042647	1	0.81001	D	1.95	0.52479	M	-0.04	0.63240	T	-3.45	0.67589	D	0.413	0.66615	-0.2147	0.77292	T	0.432	0.77316	T	9	0.39592096	0.55225	T	0.095896	0.76509	D	0.363	0.68319	.	.	0.888196944866	0.88709	0.6477200964534271	0.64707	0.182851890055	0.20557	0.858838260174	0.90939	D	0.451849	0.79241	T	0.0545752	0.58930	T	0.140941	0.79605	D	0.182013489960247	0.19362	T	0.894511	0.73102	D	0.33596757	0.55957	0.26617473	0.52459	0.33596757	0.55957	0.26617473	0.52458	-10.815	0.78633	D	.	.	0.558	0.71693	A	.;.;.;.;.;.	.;.;.;.;.;.	3.342948	0.46072	22.2	0.99251074518654936	0.56891	0.98154	0.80066	D	AEFBI	0.852170	0.76907	D	0.443083849758608	0.63811	4.622253	0.361087626824472	0.59178	4.093568	0.99999997677047	0.74766	0.634777	0.41761	0	0.670034	0.63936	0	0.643519	0.47002	0	0.668105	0.65232	0	.	.	6.08	6.08	0.98982	7.507000	0.80548	11.173000	0.88038	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.003000	0.05239	1.0:0.0:0.0:0.0	16.644	0.85012	724	0.55085	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.1429	1385.65	33	chr3	78651836	.	A	G	1385.65	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.31;DP=291;ExcessHet=0.3476;FS=2.954;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=9.36;ReadPosRankSum=0.348;SOR=0.549	GT:AD:DP:GQ:PL	0/1:27,30:57:99:736,0,605	5	0	2	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	1231.26	57	chr3	98133456	.	ACCCC	A	1231.26	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-3.113;DP=454;ExcessHet=2.5225;FS=282.521;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=4.15;ReadPosRankSum=2;SOR=8.662	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:63,17:80:99:0|1:98133456_ACCCC_A:271,0,2440:98133456	5	0	2	0
chr3	98133460	98133460	-	TGGG	exonic	OR5H1	.	frameshift insertion	OR5H1:NM_001005338:exon1:c.763_764insTGGG:p.L256Gfs*15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	1231.31	57	chr3	98133460	.	C	CTGGG	1231.31	.	AC=1;AF=0.125;AN=8;DP=408;ExcessHet=3.1439;FS=240.928;MLEAC=1;MLEAF=0.125;MQ=60;MQRankSum=0;QD=4.49;ReadPosRankSum=1.34;SOR=8.286	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:63,15:78:99:0|1:98133456_ACCCC_A:239,0,2446:98133456	3	0	1	3
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	.	.	.	.	.	.	.	.	0.3333	663.23	21	chr3	100775333	.	T	C	663.23	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-0.389;DP=165;ExcessHet=3.1439;FS=142.707;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=5.67;ReadPosRankSum=1.34;SOR=8.015	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:17,9:26:76:.:.:76,0,262:.	2	0	4	1
chr3	105541655	105541655	G	T	exonic	ALCAM	.	nonsynonymous SNV	ALCAM:NM_001243280:exon8:c.G881T:p.S294I,ALCAM:NM_001243281:exon8:c.G881T:p.S294I,ALCAM:NM_001627:exon8:c.G881T:p.S294I	.	.	.	.	.	.	.	.	.	.	.	2350176	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.292	0.0130571086578	.	.	8.321e-06	0	0	0	0	1.511e-05	0	0	1.29e-05	2	154602	rs774291073	1.301e-05	1.3e-05	1.499e-05	1.102e-05	0.0007	8.32e-06	6.71e-06	0.0002	0.0001	8.997e-05	0	0	0	0	0.0007	9.003e-06	3.318e-05	0	6.586e-06	6.569e-06	1.287e-05	0	1.473e-05	0	0	.	.	0	0	0	0	0	0	0	1.473e-05	0	0	0.003	0.68238	D	0.009	0.74150	D	1.0	0.90584	D	0.999	0.92359	D	0.000001	0.84330	D	0.153246	0.999951	0.81001	D	2.38	0.68558	M	2.5	0.14408	T	-2.18	0.53096	N	0.539	0.57348	-1.1848	0.00304	T	0.104	0.38267	T	10	0.37436897	0.53718	T	0.013057	0.32163	T	0.292	0.61157	0.465	0.53566	0.385559283137	0.38164	0.6649694188014776	0.66433	0.541051699682	0.51276	0.607780694962	0.54002	T	0.163571	0.50869	T	0.0241052	0.54933	T	-0.187665	0.55808	T	0.916055917739868	0.57333	D	0.925907	0.72722	D	0.8981655	0.91219	0.8099924	0.88900	0.8981655	0.91220	0.8099924	0.88900	-4.756	0.34743	T	.	.	0.266	0.53503	B	.;.;.	.;.;.	4.870760	0.79790	27.2	0.99712850212661408	0.81493	0.96458	0.69239	D	AEFBI	0.726538	0.67517	D	0.778610265046036	0.84750	8.376056	0.794342167582309	0.89397	9.95815	0.999999999902184	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	6.17	6.17	0.99707	5.113000	0.64480	11.753000	0.95453	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	20.879	0.99870	674	0.60593	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	546.44	33	chr3	105541655	.	G	T	546.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.151;DP=257;ExcessHet=0;FS=4.738;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.29;ReadPosRankSum=-0.188;SOR=1.286	GT:AD:DP:GQ:PL	0/1:48,27:75:99:557,0,1164	6	0	1	0
chr3	114350760	114350760	C	T	exonic	ZBTB20	.	nonsynonymous SNV	ZBTB20:NM_001164342:exon4:c.G1318A:p.E440K,ZBTB20:NM_001164346:exon5:c.G1099A:p.E367K,ZBTB20:NM_001164347:exon5:c.G1099A:p.E367K,ZBTB20:NM_001164345:exon6:c.G1099A:p.E367K,ZBTB20:NM_001164344:exon7:c.G1099A:p.E367K,ZBTB20:NM_001348804:exon9:c.G1099A:p.E367K,ZBTB20:NM_015642:exon9:c.G1099A:p.E367K,ZBTB20:NM_001348802:exon10:c.G1099A:p.E367K,ZBTB20:NM_001348805:exon10:c.G1099A:p.E367K,ZBTB20:NM_001164343:exon11:c.G1099A:p.E367K,ZBTB20:NM_001348800:exon11:c.G1318A:p.E440K,ZBTB20:NM_001348801:exon11:c.G1099A:p.E367K,ZBTB20:NM_001348803:exon13:c.G1318A:p.E440K	Primrose syndrome, Autosomal dominant	427	1046	47	2	0	51	0.0237984	.	.	.	697765	Primrose_syndrome|not_provided|not_specified	MONDO:MONDO:0009798,MedGen:C0796121,OMIM:259050,Orphanet:3042|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.085	.	0.0054	0.00479233	0.0061	0.0013	0.0034	0	0.0005	0.0077	0.0066	0.0099	0.0059249	916	154602	rs138924453	0.0062	0.0062	0.0061	0.0062	0.0192	0.0061	0.0060	0.0163	0.0153	0.0007	0.0052	0.0164	0	0.0009	0.0192	0.0062	0.0075	0.0094	0.0053	0.0053	0.0055	0.0052	0.0108	0.0050	0.0049	0.0094	0.0089	0.0010	0.0033	0.0108	0.0164	0.0002	0.0002	0.0238	0.0071	0.0095	0.0068	0.005	0.65419	D	0.908	0.03074	T	0.0	0.02946	B	0.0	0.01387	B	0.005851	0.32460	N	0.335736	0.999918	0.51042	D	0.805	0.20218	L	2.95	0.09822	T	-0.4	0.13805	N	0.462	0.50056	-1.0342	0.19109	T	0.013	0.04985	T	10	0.0055340827	0.00122	T	.	.	.	0.085	0.24743	.	.	0.273495378476	0.26946	0.35997643831087467	0.35911	1.32069806668	0.83445	0.627004861832	0.56721	T	0.106686	0.41824	T	-0.469568	0.00855	T	-0.440456	0.28757	T	0.0611467036723522	0.07347	T	0.878612	0.59406	D	0.38603228	0.59749	0.32534233	0.58450	0.3285269	0.55350	0.32534233	0.58449	-2.938	0.11102	T	.	.	0.352	0.56715	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.272020	0.44790	22.0	0.99728218537375035	0.82549	0.97136	0.72900	D	AEFBI	0.764290	0.70112	D	0.0161949265100816	0.42593	2.569172	0.22455800224508	0.51212	3.305839	0.999999922502221	0.74766	0.372202	0.05800	0	0.546412	0.12157	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	5.41	5.41	0.78313	7.350000	0.78633	7.709000	0.66702	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	19.198	0.93686	846	0.36215	.;.;.;.;.;.;.	.	.	.	.	.	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	0.016113	0.010101	0.023098	0.002924	0.000000	0.008621	0.018293	0.007576	0.1429	3058.29	34	chr3	114350760	.	C	T	3058.29	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-1.011;DP=378;ExcessHet=0.3476;FS=1.019;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=13.3;ReadPosRankSum=2.38;SOR=0.769	GT:AD:DP:GQ:PL	0/1:67,78:145:99:1972,0,1843	5	0	2	0
chr3	119191045	119191045	A	G	exonic	UPK1B	.	nonsynonymous SNV	UPK1B:NM_006952:exon5:c.A409G:p.N137D	.	432	1042	45	3	0	51	0.0238876	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.394	.	0.0041	0.0395367	0.0169	0.0012	0.0039	0.1263	0.0011	0.0059	0.0132	0.0296	0.0159894	2472	154602	rs78761311	0.0095	0.0095	0.0089	0.0102	0.1233	0.0094	0.0093	0.1204	0.1192	0.0012	0.0039	0.0189	0.1233	0.0016	0.0206	0.0040	0.0146	0.0320	0.0096	0.0096	0.0087	0.0105	0.1273	0.0092	0.0090	0.1192	0.1160	0.0013	0.0132	0.0056	0.0205	0.1273	0.0008	0.0136	0.0050	0.0132	0.0416	0.551	0.33418	T	0.473	0.13328	T	0.99	0.63424	D	0.86	0.61233	P	0.000054	0.53742	D	0.130780	0.997379	0.43837	D	1.78	0.46185	L	-1.13	0.86815	T	-1.25	0.32791	N	0.484	0.51851	-0.7897	0.55747	T	0.015	0.05946	T	10	0.0016655028	0.00020	T	.	.	.	0.394	0.70924	.	.	.	.	0.8157807269029524	0.81534	0.0496078120372	0.05439	0.483811795712	0.36581	T	0.123975	0.46565	T	-0.3391	0.05451	T	-0.152749	0.59000	T	0.0293694875918715	0.01894	T	0.756624	0.37993	T	0.18363465	0.39641	0.23165466	0.48303	0.18363465	0.39640	0.23165466	0.48302	-3.313	0.13906	T	.	.	0.108	0.26886	B	.;.;.;.;.	.;.;.;.;.	3.760625	0.53956	23.4	0.99692084973768502	0.79977	0.95921	0.66730	D	AEFBI	0.639388	0.61746	D	0.422289372913453	0.62648	4.48438	0.4541350233731	0.64982	4.766575	0.999999992247945	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.55	5.55	0.83298	4.935000	0.63199	11.235000	0.90242	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	14.525	0.67467	366	0.84579	.;.;.;.;.	.	.	.	.	rs78761311	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.025680	0.030303	0.031250	0.017544	0.050000	0.043103	0.018293	0.026515	0.07143	999.44	35	chr3	119191045	.	A	G	999.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.747;DP=267;ExcessHet=0;FS=0.839;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.34;ReadPosRankSum=1.62;SOR=0.823	GT:AD:DP:GQ:PL	0/1:34,47:81:99:1010,0,719	6	0	1	0
chr3	121697608	121697608	C	T	exonic	GOLGB1	.	nonsynonymous SNV	GOLGB1:NM_001256488:exon12:c.G2675A:p.S892N,GOLGB1:NM_001366283:exon12:c.G2792A:p.S931N,GOLGB1:NM_001366284:exon12:c.G2675A:p.S892N,GOLGB1:NM_001256486:exon13:c.G2915A:p.S972N,GOLGB1:NM_001256487:exon13:c.G2798A:p.S933N,GOLGB1:NM_001366282:exon13:c.G2915A:p.S972N,GOLGB1:NM_004487:exon13:c.G2900A:p.S967N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.0055666730905	.	.	0.0002	0	0	0	0	0.0004	0	0	0.0001746	27	154602	rs778004960	6.574e-05	6.636e-05	7.359e-05	5.78e-05	8.457e-05	5.5e-05	5.112e-05	7.05e-05	6.543e-05	2.998e-05	0	0	0	0	0	8.457e-05	1.657e-05	0	1.316e-05	1.314e-05	1.286e-05	1.347e-05	2.942e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.942e-05	0	0	0.261	0.16738	T	0.371	0.16425	T	0.001	0.07471	B	0.003	0.08700	B	0.408103	0.13033	N	0.739273	1	0.08975	N	1.2	0.30300	L	2.45	0.24472	T	-0.05	0.13418	N	0.083	0.05929	-1.0015	0.29488	T	0.036	0.15334	T	10	0.038387537	0.02253	T	0.005567	0.14379	T	0.010	0.01040	.	.	0.170165803431	0.16609	0.037615456697216235	0.03707	0.0975493673825	0.11016	0.338142246008	0.16160	T	0.011343	0.10136	T	-0.518972	0.00446	T	-0.687051	0.06562	T	0.355778306722641	0.27244	T	0.69713	0.36376	T	0.025965443	0.01596	0.04456666	0.05802	0.025965443	0.01595	0.04456666	0.05802	-3.888	0.22948	T	.	.	0.068	0.03372	B	.;.;.;.	.;.;.;.	-0.165862	0.03270	0.558	0.56106229042003131	0.05481	0.03532	0.08721	N	AEFBI	0.039459	0.05734	N	-1.19125646828008	0.05132	0.2332122	-1.23530746019028	0.05352	0.2547985	0.0878450262559025	0.16045	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.35	-1.89	0.07271	-2.009000	0.01544	-0.178000	0.11160	-0.176000	0.10722	0.000000	0.06391	0.020000	0.20764	0.881000	0.42162	0.1378:0.2768:0.1232:0.4621	2.032	0.03317	398	0.82839	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	131.31	80	chr3	121697608	.	C	T	131.31	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-2.544;DP=478;ExcessHet=2.5225;FS=222.92;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=0.41;ReadPosRankSum=-0.07;SOR=10.1	GT:AD:DP:GQ:PL	0/1:35,16:61:16:16,0,535	2	0	4	1
chr3	122615777	122615777	A	G	exonic;splicing	PARP15;PARP15	NM_001113523:exon5:c.772-2A>G	nonsynonymous SNV	PARP15:NM_001308321:exon1:c.A68G:p.Q23R,PARP15:NM_152615:exon1:c.A68G:p.Q23R	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.0210466356175	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs761455832	2.397e-05	2.531e-05	2.59e-05	2.203e-05	0.0052	1.741e-05	1.541e-05	0.0037	0.0033	0.0001	0	0	0	0	0.0052	0	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.47320	D	0.035	0.54159	D	0.617	0.65571	P	0.242	0.71741	B	.	.	.	.	1	0.81001	D	.	.	.	2.73	0.14657	T	-2.24	0.52289	N	0.51	0.54147	-1.0897	0.05582	T	0.086	0.33298	T	8	0.23577628	0.40646	T	0.021047	0.43757	T	0.126	0.34673	0.589	0.71749	0.414798848334	0.41096	.	.	.	.	.	.	.	.	.	.	0.0798575	0.62024	D	0.0584613	0.74143	D	0.599932968616486	0.36397	D	0.234977	0.03247	T	.	.	.	.	.	.	.	.	-3.895	0.22227	T	.	.	0.098	0.16451	B	.;.	.;.	3.493073	0.48838	22.7	0.98941052287110309	0.48940	0.85358	0.44483	D	AEFBI	0.303287	0.41130	N	0.598014656095349	0.73050	5.903278	0.421025263318618	0.62878	4.51077	0.999342932065353	0.39222	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	4.27	4.27	0.50009	3.101000	0.49974	4.945000	0.46240	0.751000	0.87719	0.847000	0.30396	0.996000	0.32793	0.953000	0.50222	1.0:0.0:0.0:0.0	10.880	0.46137	505	0.75648	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.001359	0.011696	0.000000	0.000000	0.000000	0.000000	0.07143	371.49	33	chr3	122615777	.	A	G	371.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.624;DP=228;ExcessHet=0;FS=1.165;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.28;ReadPosRankSum=1.3;SOR=0.42	GT:AD:DP:GQ:PL	0/1:33,18:51:99:382,0,863	6	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	.	.	.	.	.	.	.	.	0.4286	811.28	32	chr3	128055734	.	T	C	811.28	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-1.855;DP=354;ExcessHet=8.2628;FS=216.11;MLEAC=6;MLEAF=0.429;MQ=60;MQRankSum=0;QD=2.38;ReadPosRankSum=0.211;SOR=8.983	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:48,24:72:99:.:.:175,0,905:.	1	0	6	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	.	.	.	.	.	.	.	.	0.5	1108.37	12	chr3	130421335	.	G	A	1108.37	.	AC=4;AF=0.5;AN=8;BaseQRankSum=-1.486;DP=262;ExcessHet=4.1913;FS=286.714;MLEAC=5;MLEAF=0.625;MQ=60;MQRankSum=0;QD=5.46;ReadPosRankSum=0.879;SOR=8.439	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:29,17:46:99:0|1:130421335_G_A:385,0,759:130421335	0	0	4	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	.	.	.	.	.	.	.	.	0.5	1150.39	14	chr3	130421337	.	T	C	1150.39	.	AC=4;AF=0.5;AN=8;BaseQRankSum=0.181;DP=257;ExcessHet=4.1913;FS=293.182;MLEAC=5;MLEAF=0.625;MQ=60;MQRankSum=0;QD=5.28;ReadPosRankSum=0.977;SOR=8.525	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:29,17:46:99:0|1:130421335_G_A:385,0,759:130421335	0	0	4	3
chr3	131025011	131025011	T	A	exonic	ASTE1	.	nonsynonymous SNV	ASTE1:NM_001288950:exon3:c.A296T:p.K99M,ASTE1:NM_014065:exon3:c.A296T:p.K99M	.	428	1093	1	0	0	1	0.000457247	.	.	.	2725477	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.267	0.0366441863102	.	.	1.708e-05	0	0	0	0	0	0	0.0001	2.59e-05	4	154602	rs199709970	3.456e-05	3.557e-05	2.196e-05	4.734e-05	0.0004	2.659e-05	2.399e-05	0.0003	0.0002	0	0	0	0	0	0	1.63e-05	3.351e-05	0.0004	1.313e-05	1.312e-05	1.285e-05	1.342e-05	0.0004	2.18e-06	8.2e-07	7.296e-05	3.031e-05	0	0	0	0	0	0	0	0	0	0.0004	0.002	0.72154	D	0.003	0.76473	D	0.998	0.90584	D	0.866	0.81110	P	0.000000	0.84330	D	0.088762	0.965244	0.38456	D	2.66	0.77858	M	.	.	.	-3.98	0.73788	D	0.524	0.55366	-0.1301	0.79399	T	0.422	0.76684	T	9	0.35130224	0.51983	T	0.036644	0.57123	D	0.267	0.58126	0.372	0.38340	0.472023113445	0.46832	0.759067737322365	0.75854	0.738080236287	0.63091	0.464168459177	0.33882	T	0.208403	0.58929	T	-0.175047	0.24476	T	-0.199076	0.54734	T	0.792243778705597	0.45837	D	0.789321	0.42944	T	0.4279622	0.62618	0.3014791	0.56180	0.4279622	0.62619	0.3014791	0.56179	-14.731	0.95190	D	.	.	0.514	0.67199	A	.;.	.;.	3.405755	0.47225	22.4	0.99395155548214553	0.62519	0.62186	0.31706	D	AEFBCI	.	.	.	0.0444784507731946	0.43889	2.673127	-0.0794665915290804	0.36240	2.106521	0.999996335293438	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.45	4.29	0.50359	0.405000	0.20738	1.925000	0.29735	-0.108000	0.15293	0.998000	0.41325	1.000000	0.68203	0.621000	0.31922	0.0:0.0727:0.0:0.9273	11.195	0.47937	627	0.65350	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	1352.63	36	chr3	131025011	.	T	A	1352.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.802;DP=303;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.3;ReadPosRankSum=-0.659;SOR=0.765	GT:AD:DP:GQ:PL	0/1:61,49:110:99:1363,0,1594	6	0	1	0
chr3	133947398	133947398	T	C	exonic	SLCO2A1	.	nonsynonymous SNV	SLCO2A1:NM_005630:exon9:c.A1153G:p.I385V	Hypertrophic osteoarthropathy, primary, autosomal recessive 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.0135174260585	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.287e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.06992	T	0.278	0.32022	B	0.214	0.37471	B	0.000082	0.51296	D	0.172856	0.998569	0.45092	D	1.025	0.25523	L	0.34	0.58176	T	-0.08	0.09297	N	0.286	0.32370	-1.0337	0.19268	T	0.088	0.33913	T	10	0.1741527	0.32279	T	0.013517	0.32986	T	0.103	0.29403	0.552	0.66856	0.456368778954	0.45261	0.17417772395812692	0.17336	0.180607798138	0.20310	0.483463734388	0.36534	T	0.058665	0.30903	T	-0.178178	0.24006	T	-0.493717	0.23001	T	0.238408386707306	0.22346	T	0.763624	0.39028	T	0.072592154	0.16160	0.090469114	0.21215	0.072592154	0.16159	0.090469114	0.21214	-2.945	0.09600	T	0.1471760560640755	0.17034	0.085	0.18122	B	.;.	.;.	1.737092	0.22105	15.48	0.72376456997053173	0.09952	0.69810	0.34336	D	AEFDBI	0.285429	0.39806	N	-0.239153582156905	0.31538	1.769466	-0.054687819197049	0.37289	2.181248	0.999827058612655	0.43622	0.740787	0.97801	0	0.59043	0.45803	0	0.658983	0.55881	0	0.673998	0.66042	0	.	.	5.58	5.58	0.84361	1.446000	0.34701	2.941000	0.35666	-0.715000	0.03906	0.917000	0.31872	0.999000	0.35428	0.795000	0.37519	0.0:0.0:0.1413:0.8587	12.297	0.54172	713	0.56348	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	.	.	.	.	.	.	.	.	0.2857	316.78	52	chr3	133947398	.	T	C	316.78	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-2.623;DP=432;ExcessHet=2.5225;FS=306.077;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=1.1;ReadPosRankSum=0.518;SOR=8.862	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:51,13:64:66:.:.:66,0,982:.	3	0	4	0
chr3	148879794	148879794	G	A	exonic	CPA3	.	nonsynonymous SNV	CPA3:NM_001870:exon6:c.G481A:p.E161K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.0019520983494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.757e-06	1.231e-05	5.494e-06	0	0.0002	6.5e-07	4.4e-07	.	.	0	0	7.691e-05	0	0	0.0002	9.073e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.350655	0.13821	N	0.684650	1	0.08975	N	-2.235	0.00114	N	1.6	0.28604	T	2.62	0.00206	N	0.062	0.03392	-0.9580	0.39552	T	0.012	0.04795	T	10	0.02884978	0.01014	T	0.001952	0.03482	T	0.024	0.04979	0.479	0.55823	0.117506650769	0.11410	0.6124697460701117	0.61178	0.0210895503624	0.02083	0.3176638484	0.13067	T	0.018977	0.15205	T	-0.327003	0.06340	T	-0.707493	0.05425	T	0.031259898096323	0.02188	T	0.185281	0.01921	T	0.046808414	0.07898	0.050538577	0.07953	0.046808414	0.07897	0.050538577	0.07953	-0.268	0.00459	T	.	.	0.057	0.00514	B	.	.	-0.495838	0.01881	0.154	0.60147166380456518	0.06393	0.00322	0.01690	N	AEFBI	0.047053	0.07882	N	-1.6563319588362	0.01008	0.04372266	-1.52696009598093	0.02138	0.09790833	0.32288699856638	0.19402	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.656636	0.63459	0	.	.	4.55	0.89	0.18352	0.229000	0.17614	1.124000	0.24269	-0.092000	0.16129	0.010000	0.18352	0.087000	0.22477	0.032000	0.13371	0.6059:0.0:0.3941:0.0	7.775	0.28195	532	0.73501	Peptidase M14, carboxypeptidase A|Peptidase M14, carboxypeptidase A|Carboxypeptidase B, carboxypeptidase 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	.	.	.	.	.	.	.	.	0.07143	1065.49	33	chr3	148879794	.	G	A	1065.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.496;DP=301;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.65;ReadPosRankSum=0.65;SOR=0.624	GT:AD:DP:GQ:PL	0/1:54,46:100:99:1076,0,1249	6	0	1	0
chr3	149140447	149140447	G	C	exonic	HPS3	.	nonsynonymous SNV	HPS3:NM_032383:exon2:c.G661C:p.V221L	Hermansky-Pudlak syndrome 3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.025739431246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.31532	T	0.209	0.26798	T	0.079	0.24468	B	0.028	0.21332	B	0.291479	0.14761	N	0.635484	1	0.08975	N	1.495	0.37439	L	-0.02	0.62918	T	-0.49	0.15578	N	0.235	0.26475	-0.9940	0.31565	T	0.154	0.48412	T	10	0.08933401	0.15465	T	0.025739	0.48694	D	0.031	0.07369	0.24	0.17218	0.609694075345	0.60655	0.2119832897861091	0.21114	0.524358026389	0.50121	0.327225655317	0.14515	T	0.093969	0.39320	T	-0.231716	0.16421	T	-0.570621	0.15393	T	0.0895576784528686	0.11166	T	0.751925	0.37414	T	0.03419477	0.03792	0.046344537	0.06438	0.03419477	0.03791	0.046344537	0.06438	-3.021	0.10409	T	0.15839746414402936	0.19190	0.091	0.13080	B	.	.	1.144967	0.15324	11.76	0.95015166124385597	0.25991	0.18357	0.20227	N	AEFGBI	0.095109	0.19220	N	-0.944638851462693	0.09814	0.4661255	-0.950657822332143	0.10908	0.55243	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	.	.	.	.	.	.	.	.	0.07143	61.45	70	chr3	149140447	.	G	C	61.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.904;DP=345;ExcessHet=0;FS=14.575;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=1.1;ReadPosRankSum=1.95;SOR=3.788	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:49,7:56:72:0|1:149140447_G_C:72,0,1938:149140447	6	0	1	0
chr3	149140448	149140448	T	C	exonic	HPS3	.	nonsynonymous SNV	HPS3:NM_032383:exon2:c.T662C:p.V221A	Hermansky-Pudlak syndrome 3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.020106154274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.496	0.07846	T	0.71	0.05525	T	0.007	0.14184	B	0.005	0.11217	B	0.291479	0.14761	N	0.635484	1	0.08975	N	1.15	0.29295	L	-0.01	0.62762	T	-0.56	0.17003	N	0.206	0.22870	-1.0251	0.22050	T	0.127	0.43318	T	10	0.0730125	0.10976	T	0.020106	0.42635	T	0.010	0.01040	0.235	0.16457	0.635043139505	0.63204	0.21613465075128016	0.21529	0.609901705907	0.55697	0.339882075787	0.16420	T	0.07557	0.35209	T	-0.229297	0.16742	T	-0.567146	0.15713	T	0.0724107921123505	0.08986	T	0.622038	0.23930	T	0.03653093	0.04512	0.036526207	0.03116	0.03653093	0.04512	0.036526207	0.03116	-3.486	0.16237	T	0.20305506252380648	0.27024	0.092	0.13644	B	.	.	1.269208	0.16678	12.69	0.6535221764010174	0.07748	0.02627	0.07216	N	AEFGBI	0.048432	0.08264	N	-0.847281579300024	0.12117	0.5886997	-0.831464560497286	0.13733	0.7140629	0.934942468231531	0.27192	0.706298	0.61202	0	0.53679	0.11191	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.46	1.8	0.24069	1.141000	0.31140	0.437000	0.18385	0.665000	0.62972	0.152000	0.23684	0.648000	0.25949	0.877000	0.41881	0.0:0.2908:0.1406:0.5686	5.451	0.15859	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	.	.	.	.	.	.	.	.	0.07143	61.44	41	chr3	149140448	.	T	C	61.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.955;DP=288;ExcessHet=0;FS=14.575;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=1.1;ReadPosRankSum=1.83;SOR=3.788	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:49,7:56:72:0|1:149140447_G_C:72,0,1938:149140447	6	0	1	0
chr3	155853645	155853645	G	A	exonic	SLC33A1	.	nonsynonymous SNV	SLC33A1:NM_001190992:exon1:c.C353T:p.P118L,SLC33A1:NM_001363883:exon1:c.C353T:p.P118L,SLC33A1:NM_004733:exon1:c.C353T:p.P118L	Congenital cataracts, hearing loss, and neurodegeneration, Autosomal recessive;Spastic paraplegia 42, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2825036	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.916	0.180330631785	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.048477	1	0.81001	D	4.29	0.98219	H	-1.41	0.80560	T	-9.7	0.98602	D	0.933	0.93841	0.779	0.94149	D	0.787	0.92761	D	10	0.9592407	0.95314	D	0.180331	0.85482	D	0.916	0.97814	0.831	0.94042	0.971361032142	0.97104	0.9490389787202539	0.94886	2.26454559714	0.96209	0.848731040955	0.89423	D	0.814515	0.95400	D	0.434457	0.91756	D	0.386291	0.91653	D	0.999908089637756	0.99629	D	0.999721	0.99933	D	0.9729656	0.98529	0.93255115	0.97270	0.9729656	0.98529	0.93255115	0.97270	-13.696	0.92027	D	0.9927983798285628	0.99830	0.978	0.91951	P	.;.;.;.	.;.;.;.	5.608546	0.92513	32	0.9991421996857478	0.98309	0.83916	0.43007	D	AEFDBCI	.	.	.	1.03282578913964	0.96667	14.98475	0.957979052715463	0.97636	16.478	1.0	0.98316	0.542737	0.22433	0	0.52208	0.09955	0	0.685571	0.62057	0	0.56214	0.19341	0	.	.	5.57	5.57	0.84021	7.744000	0.83944	11.860000	0.98299	0.675000	0.71128	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	19.982	0.97333	839	0.37672	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	1059.78	58	chr3	155853645	.	G	A	1059.78	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-3.254;DP=580;ExcessHet=8.2628;FS=227.99;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=2.03;ReadPosRankSum=1.61;SOR=9.912	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:48,32:80:99:0|1:155853644_G_C:324,0,1260:155853644	5	0	2	0
chr3	167626931	167626931	G	A	exonic	WDR49	.	nonsynonymous SNV	WDR49:NM_001348951:exon3:c.C527T:p.T176I,WDR49:NM_001348952:exon3:c.C527T:p.T176I,WDR49:NM_001366157:exon3:c.C527T:p.T176I	.	429	1081	12	0	0	12	0.00551978	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.00506168775717	.	0.00119808	0.0003	0	0	0	0	0.0008	0	0	0.0001682	26	154602	rs200481464	0.0004	0.0005	0.0003	0.0005	0.0064	0.0004	0.0004	0.0057	0.0054	0.0001	0	0	0	0	0.0046	0.0002	0.0006	0.0064	0.0004	0.0004	0.0003	0.0005	0.0062	0.0003	0.0003	0.0045	0.0039	0.0002	0	0	0	0	0	0.0034	0.0003	0	0.0062	0.103	0.30097	T	0.132	0.34477	T	0.003	0.11197	B	0.002	0.06944	B	.	.	.	.	0.968654	0.38675	D	.	.	.	1.46	0.32238	T	-2.06	0.47175	N	0.151	0.15469	-1.0745	0.08452	T	0.047	0.20037	T	8	0.0041234493	0.00081	T	0.005062	0.12815	T	0.041	0.10877	0.424	0.46857	0.107399877778	0.10242	.	.	.	.	.	.	.	.	.	.	-0.678847	0.00049	T	-0.743188	0.03758	T	0.0220016695243544	0.00909	T	0.516748	0.16963	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	0.15251	B	.;.	.;.	1.805868	0.22954	15.83	0.98768040598143059	0.45924	0.14174	0.18262	N	AEFI	0.055713	0.10240	N	-0.470689198749537	0.23045	1.234765	-0.402347576704262	0.24928	1.367896	1.28194475251406E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.51	0.864	0.18205	0.346000	0.19737	1.151000	0.24481	0.676000	0.76740	0.135000	0.23427	0.001000	0.17328	0.951000	0.49849	0.2383:0.1061:0.5372:0.1184	3.681	0.07844	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	.	.	.	.	.	.	.	.	0.1429	1831.34	33	chr3	167626931	.	G	A	1831.34	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.223;DP=256;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=16.21;ReadPosRankSum=-0.03;SOR=0.628	GT:AD:DP:GQ:PL	0/1:29,52:81:99:1279,0,625	5	0	2	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	0.07143	505.49	27	chr3	179240022	.	T	C	505.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.209;DP=189;ExcessHet=0;FS=3.654;MLEAC=1;MLEAF=0.071;MQ=59.89;MQRankSum=-0.71;QD=14.44;ReadPosRankSum=0.598;SOR=0.223	GT:AD:DP:GQ:PL	0/1:13,22:35:99:516,0,347	6	0	1	0
chr3	184142845	184142845	C	T	exonic	EIF2B5	.	nonsynonymous SNV	EIF2B5:NM_003907:exon11:c.C1613T:p.P538L	Leukoencephalopathy with vanishing white matter, Autosomal recessive;Ovarioleukodystrophy, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1563030	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.296	0.0204975535801	0.0005	0.000998403	0.0002	0.0016	9.122e-05	0	0	3.13e-05	0	0	0.0001682	26	154602	rs148734067	5.405e-05	5.404e-05	5.445e-05	5.363e-05	0.0011	4.411e-05	4.083e-05	0.0008	0.0008	0.0011	0.0002	0	0	0	0	2.248e-05	0.0001	0	0.0004	0.0004	0.0004	0.0004	0.0013	0.0003	0.0003	0.0010	0.0009	0.0013	0	0.0001	0	0	0	0	2.94e-05	0	0	0.344	0.12552	T	0.321	0.19073	T	0.0	0.02946	B	0.0	0.01387	B	0.045233	0.23558	N	0.449943	0.996807	0.43428	D	-0.345	0.03330	N	-4.58	0.97812	D	-1.1	0.28497	N	0.11	0.09631	-0.1481	0.78962	T	0.645	0.87626	D	10	0.008962393	0.00203	T	0.020498	0.43107	T	0.296	0.61616	.	.	0.289831133145	0.28582	0.17329767222971473	0.17249	0.288080729046	0.31214	0.269976586103	0.06138	T	0.083284	0.37019	T	-0.314868	0.07326	T	-0.260441	0.48781	T	0.0219859241227575	0.00907	T	0.756924	0.38041	T	0.025167707	0.01426	0.032519717	0.02001	0.025167707	0.01425	0.032519717	0.02001	-3.914	0.22512	T	0.1218956493251425	0.11619	0.060	0.00904	B	.;.;.	.;.;.	1.975848	0.25099	16.64	0.68364984102159454	0.08636	0.55009	0.29757	D	AEFDGBHCI	0.137095	0.25797	N	-0.712811734875873	0.15661	0.7912167	-0.446767817353438	0.23641	1.290282	0.999990873181268	0.74766	0.706548	0.73137	0	0.696144	0.67643	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.89	3.57	0.40014	1.783000	0.38294	2.312000	0.32082	-0.181000	0.10308	0.989000	0.36753	0.990000	0.31317	0.994000	0.71098	0.0:0.3937:0.0:0.6063	7.086	0.24436	856	0.34373	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1366.63	35	chr3	184142845	.	C	T	1366.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.026;DP=294;ExcessHet=0;FS=2.363;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.68;ReadPosRankSum=-1.475;SOR=0.95	GT:AD:DP:GQ:PL	0/1:58,59:117:99:1377,0,1311	6	0	1	0
chr3	195725265	195725265	C	T	exonic	MUC20	.	nonsynonymous SNV	MUC20:NM_001282506:exon2:c.C662T:p.P221L,MUC20:NM_020790:exon3:c.C548T:p.P183L	.	1227	268	12	15	0	42	0.0726644	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.0279939078184	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1178367301	0.0039	0.0022	0.0035	0.0042	0.0229	0.0036	0.0034	0.0194	0.0181	0	0.0229	0.0016	0.0004	0.0035	0	0.0017	0.0016	0.0098	0.0909	0.0077	0	0.1667	0.2500	0.0162	0.0068	.	.	.	.	0.2500	.	0	0.5000	.	0	.	.	0.935	0.05501	T	0.009	0.67890	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0	0.06538	N	2.97	0.13795	T	-0.71	0.20145	N	0.071	0.04426	-0.9482	0.41279	T	0.016	0.06473	T	5	0.0043722987	0.00089	T	0.027994	0.50737	D	0.012	0.01476	0.268	0.21576	.	.	0.08169079549289465	0.08104	.	.	.	.	.	0.002482	0.09657	T	-0.314255	0.07379	T	-0.689182	0.06436	T	0.0349274069218366	0.02795	T	.	.	.	0.046044763	0.07641	0.13236813	0.31765	0.046044763	0.07640	0.13236813	0.31764	-7.122	0.54919	T	.	.	0.357	0.69288	A	.;.;.	.;.;.	0.983081	0.13607	10.14	0.97336882581047512	0.33452	0.00384	0.01939	N	AEFI	0.051030	0.08975	N	-0.961609506576599	0.09433	0.4464343	-1.14477772820503	0.06862	0.3317746	1.15960121852374E-5	0.02871	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	.	.	.	1.090000	0.30514	0.659000	0.20486	0.196000	0.17891	0.011000	0.18532	0.001000	0.17328	0.019000	0.11356	.	.	.	851	0.35303	.;.;.	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	429.19	.	chr3	195725265	.	C	T	429.19	.	AC=3;AF=0.5;AN=6;BaseQRankSum=0.842;DP=31;ExcessHet=0;FS=0;MLEAC=5;MLEAF=0.833;MQ=29.51;MQRankSum=-0.859;QD=17.88;ReadPosRankSum=1.2;SOR=1.201	GT:AD:DP:GQ:PL	1/1:0,11:11:33:304,33,0	1	1	1	4
chr3	195725774	195725774	G	0	exonic	MUC20	.	.	.	.	455	1029	13	0	25	38	0.00627716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	95.38	34	chr3	195725774	.	G	*	95.38	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.716;DP=600;ExcessHet=0.3476;FS=11.715;MLEAC=1;MLEAF=0.083;MQ=37.51;MQRankSum=-0.512;QD=0.26;ReadPosRankSum=0.629;SOR=0.518	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:103,53:156:99:.:.:946,0,2395:.	5	0	1	1
chr3	195779432	195779432	G	0	exonic	MUC4	.	.	.	.	488	764	33	32	205	302	0.0596923	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	5076.52	56	chr3	195779432	.	G	*	5076.52	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-2.918;DP=1202;ExcessHet=0.0509;FS=0.521;MLEAC=5;MLEAF=0.357;MQ=59.66;MQRankSum=0.053;QD=5.16;ReadPosRankSum=0.117;SOR=0.787	GT:AD:DP:GQ:PL	0/1:245,162:407:99:5925,0,9523	4	2	1	0
chr3	195779602	195779602	A	0	exonic	MUC4	.	.	.	.	601	683	22	17	199	255	0.0393812	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	12666.1	121	chr3	195779602	.	A	*	12666.1	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-0.629;DP=1059;ExcessHet=0.0509;FS=0.52;MLEAC=3;MLEAF=0.214;MQ=56.52;MQRankSum=-11.84;QD=12.89;ReadPosRankSum=-5.273;SOR=0.643	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:211,119:330:99:0|1:195779575_G_T:2722,0,8456:195779575	5	1	1	0
chr3	195779628	195779724	GGGGGTGGCGTGACCTGTGGATGCTGAGGAACGGCTGGTGACAGGAAGAGAGGTGGCGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGA	0	exonic	MUC4	.	.	.	.	868	396	38	54	166	312	0.15565	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375	5471.18	123	chr3	195779628	.	GGGGGTGGCGTGACCTGTGGATGCTGAGGAACGGCTGGTGACAGGAAGAGAGGTGGCGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGA	*	5471.18	.	AC=3;AF=0.375;AN=8;DP=1142;ExcessHet=0;FS=1.099;MLEAC=4;MLEAF=0.5;MQ=54.52;QD=8.66;SOR=0.768	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:299,115:415:99:0|1:195779611_GTGTCGGTGACAGGAAGGGGGGTGGCGTGACCTGTGGATGCTGAGGAAC_*:5010,0,12111:195779611	2	1	1	3
chr3	195779882	195779882	G	0	exonic	MUC4	.	.	.	.	827	38	93	396	168	1053	0.920916	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	20882.0	118	chr3	195779882	.	G	*	20882.0	.	AC=5;AF=0.5;AN=10;DP=1301;ExcessHet=0;FS=0;MLEAC=6;MLEAF=0.6;MQ=59.19;QD=20.9;SOR=0.774	GT:AD:DP:GQ:PL	0/1:0,135:288:99:10349,4741,6079	2	2	1	2
chr3	195782503	195782647	TGAAGAGGGGTGGCGTGACCTGTGGATATTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGCGTGACCTATGGATGCTGAGGAAGTGTCGGTGACAGGAAGAAGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGTCAG	0	exonic	MUC4	.	.	.	.	472	931	6	0	113	119	0.00321199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	2139.23	252	chr3	195782503	.	TGAAGAGGGGTGGCGTGACCTGTGGATATTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGCGTGACCTATGGATGCTGAGGAAGTGTCGGTGACAGGAAGAAGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGTCAG	*	2139.23	.	AC=4;AF=0.286;AN=14;BaseQRankSum=5.31;DP=2956;ExcessHet=0.4813;FS=0;MLEAC=4;MLEAF=0.286;MQ=53.38;MQRankSum=-6.898;QD=1.27;ReadPosRankSum=0.882;SOR=0.716	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:245,193:438:99:.:.:6822,0,9309:.	4	1	2	0
chr3	195783346	195783346	A	0	exonic	MUC4	.	.	.	.	1082	70	139	167	64	537	0.771615	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	7098.27	66	chr3	195783346	.	A	*	7098.27	.	AC=4;AF=0.5;AN=8;BaseQRankSum=0.974;DP=524;ExcessHet=0;FS=1.29;MLEAC=5;MLEAF=0.625;MQ=51.46;MQRankSum=1.1;QD=20.28;ReadPosRankSum=0.963;SOR=0.974	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,86:86:99:.:.:2350,200,0:.	2	2	0	3
chr3	195783357	195783357	C	0	exonic	MUC4	.	.	.	.	804	505	66	83	64	296	0.186795	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	1842.25	56	chr3	195783357	.	C	*	1842.25	.	AC=4;AF=0.667;AN=6;BaseQRankSum=1.05;DP=767;ExcessHet=0;FS=0;MLEAC=6;MLEAF=1;MQ=47.69;MQRankSum=1.66;QD=10.12;ReadPosRankSum=-0.546;SOR=0.899	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,86:86:99:.:.:2350,200,0:.	1	2	0	4
chr3	195783367	195783367	A	0	exonic	MUC4	.	.	.	.	717	615	72	57	61	247	0.131356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	1555.99	49	chr3	195783367	.	A	*	1555.99	.	AC=4;AF=0.5;AN=8;BaseQRankSum=1.15;DP=650;ExcessHet=0;FS=1.245;MLEAC=5;MLEAF=0.625;MQ=46.52;MQRankSum=1.6;QD=8.89;ReadPosRankSum=-2.405;SOR=0.522	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,86:86:99:.:.:2350,200,0:.	2	2	0	3
chr3	195783379	195783379	G	0	exonic	MUC4	.	.	.	.	3	172	18	18	15	69	0.135678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	1047.22	38	chr3	195783379	.	G	*	1047.22	.	AC=4;AF=0.333;AN=12;BaseQRankSum=1.23;DP=614;ExcessHet=0;FS=2.659;MLEAC=4;MLEAF=0.333;MQ=44.23;MQRankSum=0.989;QD=6.39;ReadPosRankSum=-3.715;SOR=0.399	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,86:86:99:.:.:2350,200,0:.	4	2	0	1
chr3	195783381	195783383	GTC	0	exonic	MUC4	.	.	.	.	696	688	46	34	58	172	0.0765101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	880.89	34	chr3	195783381	.	GTC	*	880.89	.	AC=4;AF=0.5;AN=8;BaseQRankSum=2.33;DP=606;ExcessHet=0;FS=2.671;MLEAC=5;MLEAF=0.625;MQ=44.19;MQRankSum=0.774;QD=5.51;ReadPosRankSum=-3.835;SOR=0.39	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,86:86:99:.:.:2350,200,0:.	2	2	0	3
chr3	195783395	195783395	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	246.26	20	chr3	195783395	.	A	*	246.26	.	AC=4;AF=0.333;AN=12;BaseQRankSum=3.49;DP=337;ExcessHet=0;FS=4.245;MLEAC=4;MLEAF=0.333;MQ=41.9;MQRankSum=-1.128;QD=1.69;ReadPosRankSum=-2.593;SOR=0.307	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,86:86:99:.:.:2350,200,0:.	4	2	0	1
chr3	195783400	195783400	G	0	exonic	MUC4	.	.	.	.	581	868	25	28	20	101	0.044579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	127.26	44	chr3	195783400	.	G	*	127.26	.	AC=4;AF=0.333;AN=12;BaseQRankSum=1.61;DP=381;ExcessHet=0;FS=5.721;MLEAC=4;MLEAF=0.333;MQ=54.17;MQRankSum=-3.071;QD=0.75;ReadPosRankSum=-3.221;SOR=1.207	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,86:86:99:.:.:2350,200,0:.	4	2	0	1
chr3	195783422	195783422	A	0	exonic	MUC4	.	.	.	.	663	798	25	28	8	89	0.0483005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	31.31	40	chr3	195783422	.	A	*	31.31	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-0.015;DP=362;ExcessHet=0;FS=5.555;MLEAC=4;MLEAF=0.333;MQ=53.65;MQRankSum=5.07;QD=0.19;ReadPosRankSum=-4.06;SOR=0.264	GT:AD:DP:GQ:PL	1/1:0,86:86:99:2350,200,0	4	2	0	1
chr3	195783455	195783599	CGGTGACAGGAAGAGAGGTGGTGTCACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGCATGACCGGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATACTGAGGAAAGGCT	0	exonic	MUC4	.	.	.	.	589	869	23	27	14	91	0.0424242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	213.41	34	chr3	195783455	.	CGGTGACAGGAAGAGAGGTGGTGTCACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGCATGACCGGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATACTGAGGAAAGGCT	*	213.41	.	AC=4;AF=0.286;AN=14;DP=259;ExcessHet=0;FS=0;MLEAC=4;MLEAF=0.286;MQ=28.79;QD=1.59;SOR=1.153	GT:AD:DP:GQ:PL	1/1:0,86:86:99:2350,200,0	5	2	0	0
chr3	195784652	195784652	C	0	exonic	MUC4	.	.	.	.	842	358	133	132	57	454	0.356694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	27789.8	70	chr3	195784652	.	C	*	27789.8	.	AC=3;AF=0.25;AN=12;DP=3157;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.25;MQ=50.1;QD=13.4;SOR=0.702	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:526,723:1249:99:0|1:195784574_GC_G:21311,0,16259:195784574	4	1	1	1
chr3	195784654	195784654	T	0	exonic	MUC4	.	.	.	.	811	382	134	136	59	465	0.347009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	22046.3	70	chr3	195784654	.	T	*	22046.3	.	AC=3;AF=0.25;AN=12;BaseQRankSum=1.85;DP=3156;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.25;MQ=50.07;MQRankSum=-2.194;QD=10.66;ReadPosRankSum=-0.04;SOR=0.682	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:526,723:1249:99:0|1:195784574_GC_G:21311,0,16259:195784574	4	1	1	1
chr3	195784655	195784655	C	0	exonic	MUC4	.	.	.	.	812	379	133	136	62	467	0.348237	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	28144.8	70	chr3	195784655	.	C	*	28144.8	.	AC=3;AF=0.25;AN=12;DP=3154;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.25;MQ=50;QD=13.51;SOR=0.702	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:526,723:1249:99:0|1:195784574_GC_G:21311,0,16259:195784574	4	1	1	1
chr3	195784719	195784719	A	0	exonic	MUC4	.	.	.	.	956	119	187	211	49	658	0.719008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	37867.8	421	chr3	195784719	.	A	*	37867.8	.	AC=2;AF=0.25;AN=8;BaseQRankSum=1.81;DP=4029;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.375;MQ=56.62;MQRankSum=2.34;QD=15.17;ReadPosRankSum=1.78;SOR=0.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:526,723:1249:99:0|1:195784574_GC_G:21311,0,16259:195784574	2	0	2	3
chr3	195787028	195787075	CGTGACCTGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGAGTGA	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.4505_4552del:p.V1502_H1517del,MUC4:NM_001322468:exon5:c.4505_4552del:p.L1503_A4615delinsPSSASTGHATPLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSASTGQATPLPVTGPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHTTSLHVTSPSSASTGHATSLPVTDTSSVSTGHATPLHVTSPSSASTGDTTPLPVTDTYSASTGQATPLPVTDTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVFTGHATSLPVTIPSSASSGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPDTDTSSASTGHATPLPVTDTSSASTGHATLLPVTDTSSASIGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHANPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGQATALPVTSTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGHATPLHVTSPSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSASTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPLTSLSSVSTGDTTTLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPVTSLSSVSTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSRGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLPVTSTSSASTGHATSLPVTDTSSVSTGHATSLPVTDTSSVSTGHATPLPVTDASSVSTGHATPLPVTDASSASTGDTTPLPVTNTSSASTGQATPLPVTSLSSVSTGDTMPLPVTSPSSASTGHATPLPVTGLSSASTGDTTPLPVTDTSSASTGHVTPLPVTSLSSASTGDSTPLPVTDTSSASTGHVTPLPVTSLSSASTGDTTPLPVTDTSSASTGHATPLHVTDASSASTGQATLLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDTSSASTGHATPLPVTDASSVSTGHATSLPVTIRSSGSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTMPLPVTSPSSASTGDTTPLPVTDASSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTTSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHATPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATSLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLHVTDASSVSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTDTSSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGHTTSLPVTDASSVSTGHATSLPVTIPSSASSGHTTPLPVTDASSVPTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGQATPLPVTSLSSASSTGDTTPLPVTDTSSASTGQDTPLPVTSLFSVSTGDTTPLPVTSPSSASTGHATHLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSVSTGHATSLPVTDTSSASTGHATSLPVTDTSSASTGQATPLPVTSPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTSPSSASTGHATPLHVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTDVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHATSLHVTSPSSASTGHATPLPVTDTSAASTGHATPLPVTSTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATSLPVTDTSSASTGDTTSLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSLASTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSASTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVSDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSTGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLHVTSPSSSSTGQATPLPVTSTSSVSTGHVTPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTDASSVSTGHATPLPVTDTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGHATPLAVSSATSASTVSSDSPLKMETSGMTTPSLKTDGGRRTATSPPPTTSQTIISTIPSTAMHTRSTAAPIPILPERGVSLFPYGADAGDLEFVRRTVDFTSPLFKPATGFPLGSSLRDSLYFTDNGQIIFPESDYQIFSYPNPLPTGFTGRDPVALVAPFWDDADFSTGRGTTFYQEYETFYGEHSLLVQQAESWIRKMTNNGGYKARWALKVTWVNAHAYPAQWTLGSNTYQAILSTDGSRSYALFLYQSGGMQWDVAQRSGNPVLMGFSSGDGYFENSPLMSQPVWERYRPDRFLNSNSGLQGLQFYRLHREERPNYRLECLQWLKSQPRWPSWGWNQVSCPCSWQQGRRDLRFQPVSIGRWGLGSRQLCSFTSWRGGVCCSYGPWGEFREGWHVQRPWQLAQELEPQSWCCRWNDKPYLCALYQQRRPHVGCATYRPPQPAWMFGDPHITTLDGVSYTFNGLGDFLLVGAQDGNSSFLLQGRTAQTGSAQATNFIAFAAQYRSSSLGPVTVQWLLEPHDAIRVLLDNQTVTFQPDHEDGGGQETFNATGVLLSRNGSEVSASFDGWATVSVIALSNILHASASLPPEYQNRTEGLLGVWNNNPEDDFRMPNGSTIPPGSPEEMLFHFGMTWQINGTGLLGKRNDQLPSNFTPVFYSQLQKNSSWAEHLISNCDGDSSCIYDTLALRNASIGLHTREVSKNYEQANATLNQYPPSINGGRVIEAYKGQTTLIQYTSNAEDANFTLRDSCTDLELFENGTLLWTPKSLEPFTLEILARSAKIGLASALQPRTVVCHCNAESQCLYNQTSRVGNSSLEVAGCKCDGGTFGRYCEGSEDACEEPCFPSVHCVPGKGCEACPPNLTGDGRHCAALGSSFLCQNQSCPVNYCYNQGHCYISQTLGCQPMCTCPPAFTDSRCFLAGNNFSPTVNLELPLRVIQLLLSEEENASMAEVNASVAYRLGTLDMRAFLRNSQVERIDSAAPASGSPIQHWMVISEFQYRPRGPVIDFLNNQLLAAVVEAFLYHVPRRSEEPRNDVVFQPISGEDVRDVTALNVSTLKAYFRCDGYKGYDLVYSPQSGFTCVSPCSRGYCDHGGQCQHLPSGPRCSCVSFSIYTAWGEHCEHLSMKLDAFFGIFFGALGGLLLLGVGTFVVLRFWGCSGARFSYFLNSAEALP*	.	550	971	1	0	0	1	0.000514668	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0039	0.0087	0.0055	0	0	0.0006	0	0.0070	0.0004528	70	154602	rs762849060	0.0004	0.0007	0.0003	0.0005	0.0039	0.0004	0.0004	0.0036	0.0034	0.0017	0.0003	4.106e-05	0.0001	0	0.0003	0.0001	0.0004	0.0039	0.0013	0.0023	0.0012	0.0013	0.0042	0.0011	0.0011	0.0036	0.0034	0.0042	0	0.0002	0	0.0004	0	0	0.0002	0.0006	0.0040	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	1637.01	42	chr3	195787027	.	GCGTGACCTGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGAGTGA	G	1637.01	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.283;DP=729;ExcessHet=0.3476;FS=25.829;MLEAC=2;MLEAF=0.143;MQ=42.14;MQRankSum=-1.571;QD=4.76;ReadPosRankSum=0.467;SOR=4.13	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:111,21:132:99:0|1:195787027_GCGTGACCTGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGAGTGA_G:574,0,4468:195787027	5	0	2	0
chr4	443121	443121	T	C	exonic	ZNF721	.	nonsynonymous SNV	ZNF721:NM_133474:exon3:c.A1346G:p.E449G	.	389	1132	1	0	0	1	0.000441501	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.000619620305017	.	.	8.29e-06	0	0	0	0	0	0	6.058e-05	6.5e-06	1	154602	rs782435513	2.052e-06	2.052e-06	0	4.126e-06	2.319e-05	5.5e-07	1.5e-07	3.85e-06	1.44e-06	0	0	0	0	0	0	0	1.656e-05	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.63226	D	0.004	0.76473	D	0.951	0.53992	P	0.969	0.72001	D	.	.	.	.	1	0.08975	N	1.77	0.45869	L	3.19	0.07353	T	-5.44	0.85397	D	0.196	0.36989	-1.0595	0.11880	T	0.049	0.20829	T	9	0.13889086	0.26412	T	6.2E-4	0.00303	T	0.029	0.06676	0.424	0.46857	0.0986583533028	0.09354	0.05238893984324652	0.05180	0.0511427036446	0.05630	0.28135445714	0.07682	T	0.045868	0.27254	T	-0.392759	0.02582	T	-0.599294	0.12870	T	0.458269098136876	0.31102	T	0.00619224	0.00023	T	0.16041459	0.35982	0.17190868	0.39408	0.16041459	0.35981	0.17190868	0.39407	-9.164	0.68747	D	.	.	0.173	0.37932	B	.;.	.;.	2.101450	0.26736	17.22	0.99393201508610673	0.62428	0.00000	0.00017	N	AEFDGBHCI	0.027756	0.02325	N	-0.747816948406947	0.14693	0.734064	-1.03019236734323	0.09125	0.4522494	0.0101166846357339	0.11969	0.651	0.46895	0	0.708844	0.79440	0	0.643519	0.47002	0	0.592323	0.36904	0	.	.	0.71	-1.42	0.08446	0.148000	0.16042	.	.	0.457000	0.21530	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.3272:0.0:0.0:0.6728	3.755	0.08105	912	0.21483	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	.	.	.	.	.	.	.	.	0.07143	1144.44	34	chr4	443121	.	T	C	1144.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.55;DP=268;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.31;ReadPosRankSum=-2.579;SOR=0.697	GT:AD:DP:GQ:PL	0/1:43,43:86:99:1155,0,1067	6	0	1	0
chr4	522125	522125	T	C	exonic	PIGG	.	nonsynonymous SNV	PIGG:NM_001345989:exon9:c.T1751C:p.V584A	Mental retardation, autosomal recessive 53, Autosomal recessive	426	1088	8	0	0	8	0.003663	.	.	.	3198709	PIGG-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	.	.	.	0.000798722	.	.	.	.	.	.	.	.	0.0043415	113	26028	rs534227832	0.0050	0.0067	0.0052	0.0047	0.0067	0.0048	0.0047	0.0065	0.0064	0.0009	0.0012	0.0042	9.458e-05	0.0044	0.0018	0.0067	0.0046	0.0023	0.0039	0.0039	0.0044	0.0034	0.0067	0.0036	0.0035	0.0062	0.0060	0.0009	0	0.0014	0.0046	0	0.0039	0	0.0067	0.0028	0.0025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.07143	1317.44	34	chr4	522125	.	T	C	1317.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.519;DP=315;ExcessHet=0;FS=1.6;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.87;ReadPosRankSum=0.64;SOR=0.914	GT:AD:DP:GQ:PL	0/1:56,55:111:99:1328,0,1435	6	0	1	0
chr4	1718207	1718207	G	-	exonic	TMEM129	.	frameshift deletion	TMEM129:NM_001127266:exon2:c.625delC:p.L209Sfs*20,TMEM129:NM_138385:exon2:c.625delC:p.L209Sfs*75	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	2592.59	36	chr4	1718206	.	AG	A	2592.59	.	AC=2;AF=0.143;AN=14;DP=246;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=35.53;SOR=1.758	GT:AD:DP:GQ:PL	1/1:0,65:65:99:2613,196,0	6	1	0	0
chr4	6862306	6862306	T	C	exonic	KIAA0232	.	nonsynonymous SNV	KIAA0232:NM_001100590:exon6:c.T1924C:p.S642P,KIAA0232:NM_014743:exon7:c.T1924C:p.S642P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.00517274981781	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1049661710	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.005	0.63226	D	0.024	0.56640	D	0.01	0.15535	B	0.01	0.14941	B	0.002610	0.36243	N	0.335799	0.997385	0.43845	D	1.845	0.48678	L	.	.	.	-1.21	0.30762	N	0.255	0.28849	-0.8699	0.50537	T	0.178	0.52350	T	9	0.10915744	0.20352	T	0.005173	0.13156	T	0.057	0.16321	0.471	0.54537	0.0675242888579	0.06100	0.46100661359438516	0.46018	0.236252140533	0.26164	0.507156848907	0.39825	T	0.032907	0.22691	T	-0.0647136	0.42169	T	-0.330733	0.41388	T	0.740678250789642	0.42773	D	0.785921	0.42389	T	0.33447877	0.55835	0.22762217	0.47778	0.33447877	0.55835	0.22762217	0.47777	-4.395	0.29489	T	.	.	0.096	0.18950	B	.;.	.;.	2.849310	0.37614	20.5	0.99790826753695638	0.87661	0.97746	0.76833	D	AEFBI	0.619401	0.60485	D	-0.157216252661344	0.34928	1.999906	-0.0453646344165534	0.37692	2.210343	0.99990703318278	0.45458	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.73	1.7	0.23359	2.683000	0.46609	0.685000	0.20714	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0737:0.2877:0.6386	6.857	0.23230	682	0.59757	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	1395.26	65	chr4	6862306	.	T	C	1395.26	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.044;DP=565;ExcessHet=11.5949;FS=236.492;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.6;ReadPosRankSum=0.983;SOR=10.163	GT:AD:DP:GQ:PL	0/1:61,31:92:99:318,0,1364	0	0	6	1
chr4	7778866	7778866	T	C	exonic	AFAP1	.	nonsynonymous SNV	AFAP1:NM_001371090:exon12:c.A1541G:p.K514R,AFAP1:NM_198595:exon13:c.A1541G:p.K514R,AFAP1:NM_001134647:exon14:c.A1793G:p.K598R,AFAP1:NM_001371091:exon14:c.A1541G:p.K514R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.00294066784687	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1346456026	2.399e-05	2.394e-05	2.592e-05	2.204e-05	2.974e-05	1.742e-05	1.542e-05	2.121e-05	1.866e-05	0	2.238e-05	0	0	0	0	2.974e-05	1.659e-05	0	6.568e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.63	0.21467	T	0.497	0.13328	T	0.935	0.52277	P	0.499	0.47621	P	0.004116	0.34102	N	0.337865	0.963757	0.38367	D	2.42	0.70002	M	2.44	0.15724	T	-0.5	0.18877	N	0.469	0.50778	-1.0388	0.17678	T	0.067	0.27502	T	10	0.22365162	0.39149	T	0.002941	0.06250	T	0.081	0.23632	0.286	0.24440	0.158396225186	0.15383	0.22514742098958487	0.22429	0.0737544068941	0.08270	0.476873189211	0.35627	T	0.008665	0.07944	T	-0.231168	0.16495	T	-0.486968	0.23710	T	0.506636202335358	0.32873	D	0.89811	0.64401	D	0.071811244	0.15925	0.06769117	0.14038	0.071811244	0.15924	0.06769117	0.14038	-2.892	0.26053	T	.	.	0.073	0.06663	B	.;.;.;.	.;.;.;.	3.529247	0.49512	22.8	0.99827379923133008	0.90939	0.87643	0.47250	D	AEDBCIJ	0.577628	0.57915	D	0.361067468692673	0.59328	4.111127	0.355484022082124	0.58839	4.057066	0.999999996136247	0.74766	0.706298	0.61202	0	0.610034	0.51514	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.66	4.66	0.57857	4.775000	0.62040	2.623000	0.33646	0.665000	0.62972	1.000000	0.71638	0.999000	0.35428	0.919000	0.45453	0.0:0.0:0.0:1.0	14.289	0.65817	958	0.09170	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	939.27	42	chr4	7778866	.	T	C	939.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.2;DP=293;ExcessHet=0;FS=1.816;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.1;ReadPosRankSum=-0.093;SOR=0.965	GT:AD:DP:GQ:PL	0/1:53,40:93:99:949,0,1303	5	0	1	1
chr4	8468247	8468247	G	T	exonic	TRMT44	.	nonsynonymous SNV	TRMT44:NM_001350233:exon9:c.G1105T:p.D369Y,TRMT44:NM_152544:exon9:c.G1828T:p.D610Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.348	0.00870528423977	.	0.000399361	7.416e-05	0	0	0	0	0	0	0.0005	7.12e-05	11	154602	rs538896665	2.599e-05	2.668e-05	1.633e-05	3.575e-05	0.0004	1.932e-05	1.692e-05	0.0003	0.0002	0	0	0	0	0	0	5.396e-06	1.656e-05	0.0004	1.313e-05	1.312e-05	1.284e-05	1.342e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0.0002	0	0	0	0	0.0002	0.006	0.72154	D	0.008	0.67890	D	0.999	0.77913	D	0.957	0.69900	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	3.165	0.88605	M	2.12	0.20255	T	-6.04	0.90023	D	0.812	0.81957	-0.6828	0.61243	T	0.173	0.51500	T	10	0.62944525	0.68431	D	0.008705	0.22976	T	0.348	0.66956	0.6	0.73105	0.418095516054	0.41424	0.700923703153454	0.70033	0.135669409834	0.15297	0.563972592354	0.47828	T	0.261741	0.63325	T	-0.126808	0.32013	T	-0.103771	0.63103	T	0.795565724372864	0.46055	D	0.886311	0.61284	D	0.8023243	0.84054	0.6500772	0.79528	0.8023243	0.84056	0.6500772	0.79529	-16.64	0.98881	D	.	.	0.294	0.53747	B	.;.	.;.	3.509470	0.49139	22.7	0.989651932264065	0.49423	0.97333	0.74089	D	AEFDBI	0.377965	0.46154	N	0.431740533038596	0.63175	4.546302	0.270352443106045	0.53815	3.548787	0.999999999999744	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.7	4.7	0.58776	4.620000	0.60927	5.648000	0.49173	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.465000	0.28230	0.0:0.0:1.0:0.0	17.816	0.88545	951	0.11083	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1243.44	34	chr4	8468247	.	G	T	1243.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.578;DP=291;ExcessHet=0;FS=0.755;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=1.54;SOR=0.596	GT:AD:DP:GQ:PL	0/1:46,52:98:99:1254,0,1093	6	0	1	0
chr4	8607360	8607360	-	AG	exonic	CPZ	.	stopgain	CPZ:NM_003652:exon6:c.1129_1130insAG:p.Y377*,CPZ:NM_001014447:exon7:c.1162_1163insAG:p.Y388*,CPZ:NM_001014448:exon7:c.751_752insAG:p.Y251*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.651e-05	0	0.0002	0	0	0	0	0	1.29e-05	2	154602	rs780023309	2.121e-05	2.121e-05	1.634e-05	2.613e-05	0.0002	1.52e-05	1.324e-05	0.0001	0.0001	0	0.0002	0	0	0	0	1.709e-05	1.656e-05	0	0.0002	0.0002	0.0001	0.0002	0.0015	0.0001	9.242e-05	0.0010	0.0009	0	0	0.0015	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	2378.59	33	chr4	8607360	.	T	TAG	2378.59	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.342;DP=322;ExcessHet=0;FS=1.374;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.88;ReadPosRankSum=-0.032;SOR=0.803	GT:AD:DP:GQ:PL	0/1:71,62:133:99:2389,0,2793	6	0	1	0
chr4	13602410	13602410	T	C	exonic	BOD1L1	.	nonsynonymous SNV	BOD1L1:NM_148894:exon10:c.A4490G:p.Q1497R	.	428	1063	29	2	0	33	0.0152849	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	.	0.0069	0.00658946	0.0105	0.0016	0.0023	0	0.0135	0.0117	0.0133	0.0215	0.0099805	1543	154602	rs61995956	0.0095	0.0095	0.0091	0.0099	0.0220	0.0094	0.0093	0.0211	0.0208	0.0011	0.0025	0.0016	7.557e-05	0.0120	0.0108	0.0096	0.0081	0.0220	0.0068	0.0068	0.0064	0.0073	0.0226	0.0065	0.0063	0.0192	0.0179	0.0015	0.0011	0.0032	0.0014	0	0.0143	0.0102	0.0094	0.0076	0.0226	0.004	0.65419	D	0.046	0.49120	D	0.608	0.39540	P	0.156	0.34472	B	0.618964	0.10796	N	0.801023	1	0.08975	N	2.36	0.67893	M	3.14	0.07920	T	-1.47	0.35991	N	0.043	0.01577	-0.9586	0.39442	T	0.008	0.02720	T	10	0.003915727	0.00075	T	.	.	.	0.028	0.06331	.	.	.	.	0.15328428292832674	0.15250	0.05194464885	0.05714	0.293053716421	0.09369	T	0.022478	0.17323	T	-0.566169	0.00233	T	-0.569782	0.15470	T	0.0101450160726192	0.00137	T	0.474053	0.14146	T	0.19912675	0.41840	0.14007954	0.33402	0.19912675	0.41840	0.14007954	0.33401	-3.313	0.13906	T	.	.	0.097	0.15788	B	.	.	0.400505	0.07718	4.396	0.98039770082843836	0.37782	0.15683	0.19031	N	AEFGBCI	0.034002	0.04137	N	-0.683719391818305	0.16486	0.8403416	-0.753245090606846	0.15643	0.8237233	0.998625092751285	0.37330	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.23	2.66	0.30672	0.428000	0.21114	0.273000	0.16680	0.665000	0.62972	0.004000	0.16614	0.062000	0.22056	0.024000	0.12247	0.0:0.0782:0.3034:0.6184	6.438	0.21037	612	0.66786	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008056	0.000000	0.006793	0.005848	0.000000	0.000000	0.012195	0.018939	0.1667	3198.9	34	chr4	13602410	.	T	C	3198.9	.	AC=2;AF=0.167;AN=12;DP=427;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=30.47;SOR=0.876	GT:AD:DP:GQ:PL	1/1:0,105:105:99:3218,315,0	5	1	0	1
chr4	18021686	18021686	-	GCGGCGGCGGCGGCG	exonic	LCORL	.	nonframeshift insertion	LCORL:NM_001166139:exon1:c.65_66insCGCCGCCGCCGCCGC:p.A22_Q23insAAAAA,LCORL:NM_001365660:exon1:c.65_66insCGCCGCCGCCGCCGC:p.A22_Q23insAAAAA,LCORL:NM_001365661:exon1:c.65_66insCGCCGCCGCCGCCGC:p.A22_Q23insAAAAA,LCORL:NM_001365662:exon1:c.65_66insCGCCGCCGCCGCCGC:p.A22_Q23insAAAAA,LCORL:NM_001365663:exon1:c.65_66insCGCCGCCGCCGCCGC:p.A22_Q23insAAAAA,LCORL:NM_001365665:exon1:c.65_66insCGCCGCCGCCGCCGC:p.A22_Q23insAAAAA,LCORL:NM_153686:exon1:c.65_66insCGCCGCCGCCGCCGC:p.A22_Q23insAAAAA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.812e-05	8.692e-05	8.279e-05	7.333e-05	9.604e-05	6.607e-05	6.14e-05	8.059e-05	7.526e-05	0	0	0	0	0	0	9.604e-05	8.742e-05	0	1.324e-05	1.317e-05	1.295e-05	1.354e-05	0.0002	2.2e-06	8.2e-07	.	.	2.427e-05	0	0	0	0.0002	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	504.79	36	chr4	18021686	.	A	AGCGGCGGCGGCGGCG	504.79	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.729;DP=217;ExcessHet=0;FS=2.92;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.28;ReadPosRankSum=-0.894;SOR=0.33	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:24,14:38:99:0|1:18021686_A_AGCGGCGGCGGCGGCG:515,0,966:18021686	6	0	1	0
chr4	69200588	69200588	T	C	exonic	UGT2B11	.	nonsynonymous SNV	UGT2B11:NM_001073:exon6:c.A1442G:p.H481R	.	2	1485	34	1	0	36	0.011976	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	.	.	.	0.0060	0.0062	0.0022	0.0075	0.0037	0.0064	0.0113	0.0072	0.0013063	34	26028	rs200852364	8.505e-05	0.0047	8.314e-05	8.699e-05	0.0003	7.272e-05	6.812e-05	0.0001	0.0001	0.0003	0.0001	0.0005	0.0002	3.802e-05	0	6.401e-05	8.445e-05	0.0002	2.639e-05	0.0002	5.156e-05	0	4.425e-05	8.17e-06	5.16e-06	1.175e-05	6.26e-06	0	0	0	0	0	9.448e-05	0	4.425e-05	0	0	0.034	0.44029	D	0.006	0.70582	D	0.081	0.24602	B	0.092	0.30031	B	0.000142	0.49130	N	0.080367	0.999981	0.18198	N	2.885	0.83555	M	0.07	0.61677	T	-6.67	0.92346	D	0.205	0.22742	-0.8733	0.50280	T	0.173	0.51611	T	10	0.016969383	0.00360	T	.	.	.	0.189	0.46613	.	.	0.304760801415	0.30091	0.10960936450173794	0.10889	0.00993161298319	0.00904	0.401416927576	0.25266	T	0.030796	0.21743	T	-0.161398	0.26546	T	-0.469614	0.25557	T	0.892795264720917	0.54393	D	0.640736	0.25328	T	0.37984788	0.59305	0.41448992	0.65591	0.37984788	0.59305	0.41448992	0.65591	-9.706	0.72133	D	.	.	0.110	0.21125	B	.	.	1.167581	0.15569	11.95	0.37659245556180876	0.02494	0.62903	0.31924	D	AEFI	.	.	.	-1.24356243697763	0.04385	0.1977844	-1.33254164926487	0.04016	0.1885503	2.00704249431481E-6	0.01202	0.553676	0.25195	0	0.657636	0.61667	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	1.27	-0.615	0.11005	3.324000	0.51734	.	.	-0.873000	0.02525	0.999000	0.42656	0.000000	0.08366	0.004000	0.06068	0.0:0.1865:0.0:0.8135	6.335	0.20497	540	0.73006	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.043716	0.052326	0.046322	0.029167	0.000000	0.051724	0.054839	0.023256	0.07143	152.63	42	chr4	69200588	.	T	C	152.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.775;DP=753;ExcessHet=0;FS=2.763;MLEAC=1;MLEAF=0.071;MQ=57.35;MQRankSum=-15.82;QD=0.59;ReadPosRankSum=5.07;SOR=0.468	GT:AD:DP:GQ:PL	0/1:221,38:259:99:163,0,5984	6	0	1	0
chr4	70054335	70054335	A	G	exonic	HTN1	.	nonsynonymous SNV	HTN1:NM_002159:exon3:c.A65G:p.H22R	.	.	.	.	.	.	.	.	.	.	.	3444196	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.029	0.00290431756759	.	0.000199681	0.0002	0	0.0001	0	0	0	0.0014	0.0013	0.0001423	22	154602	rs544517931	6.351e-05	7.465e-05	3.495e-05	9.222e-05	0.0010	5.211e-05	4.868e-05	0.0008	0.0007	0	0	0	0	0	0	4.757e-06	0.0002	0.0010	1.972e-05	1.968e-05	1.286e-05	2.689e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.985e-05	0	0	0	0	0	0	0	0	0	0.0006	0.0	0.91255	D	0.0	0.92824	D	0.689	0.41609	P	0.352	0.42883	B	.	.	.	.	1	0.08975	N	.	.	.	0.8	0.48769	T	-4.57	0.78721	D	0.255	0.28849	-1.0006	0.29746	T	0.105	0.38440	T	8	0.022366285	0.00557	T	0.002904	0.06133	T	0.029	0.06676	0.173	0.07894	0.385417323374	0.38153	0.008843964897853489	0.00848	9.01657022897E-4	0.00079	0.290072798729	0.08932	T	0.069464	0.33716	T	-0.516881	0.00459	T	-0.574432	0.15044	T	0.733024656772614	0.42367	D	.	.	.	0.1437486	0.33024	0.14890602	0.35179	0.1437486	0.33024	0.14890602	0.35178	-3.682	0.19052	T	.	.	0.117	0.23709	B	.;.;.	.;.;.	1.494710	0.19221	14.15	0.74191394005049272	0.10604	0.02159	0.06342	N	AEFBI	0.037928	0.05291	N	-0.668504801413834	0.16923	0.866479	-0.877968490957089	0.12617	0.6500306	1.66505678783362E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.94	-0.177	0.12654	0.649000	0.24529	-0.889000	0.07035	-0.353000	0.05553	0.004000	0.16614	0.000000	0.08366	0.005000	0.06747	0.5796:0.4204:0.0:0.0	6.048	0.18999	934	0.15400	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	57.21	15	chr4	70054335	.	A	G	57.21	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-0.473;DP=64;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=5.2;ReadPosRankSum=-2.965;SOR=0.495	GT:AD:DP:GQ:PL	0/1:7,4:11:66:66,0,155	4	0	1	2
chr4	75516961	75516961	T	G	exonic	THAP6	.	nonsynonymous SNV	THAP6:NM_001317791:exon3:c.T270G:p.D90E,THAP6:NM_144721:exon3:c.T270G:p.D90E	.	441	1080	1	0	0	1	0.000462749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.227	0.0256727871315	.	.	.	.	.	.	.	.	.	.	.	.	.	rs143920365	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.576e-06	6.568e-06	1.286e-05	0	2.415e-05	0	0	.	.	2.415e-05	0	0	0	0	0	0	0	0	0	0.238	0.19710	T	0.317	0.21011	T	0.002	0.09854	B	0.012	0.16012	B	0.003199	0.35300	N	0.196550	0.998727	0.22567	N	0.77	0.19370	N	-3.88	0.95953	D	-0.93	0.24898	N	0.207	0.29889	-0.4320	0.71001	T	0.557	0.83854	D	9	0.11737943	0.22166	T	0.025673	0.48627	D	0.227	0.52620	0.415	0.45380	0.286081765059	0.28222	0.07958313866828533	0.07893	0.178201552963	0.20047	0.449294269085	0.31847	T	0.20593	0.68011	T	-0.037707	0.46287	T	-0.29194	0.45571	T	0.105341888964176	0.12934	T	0.650435	0.32820	T	0.06105311	0.12599	0.043948464	0.05585	0.06105311	0.12598	0.043948464	0.05585	-4.801	0.37463	T	.	.	0.121	0.34049	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	1.099034	0.14832	11.37	0.87865257005689446	0.17539	0.44410	0.27312	N	AEFBI	0.097878	0.19733	N	-0.650967224095488	0.17432	0.8969746	-0.528689769911561	0.21375	1.156033	0.999385585773059	0.39415	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.09	-0.446	0.11627	0.346000	0.19737	1.028000	0.23458	0.665000	0.62972	0.869000	0.30776	1.000000	0.68203	0.998000	0.85391	0.1432:0.0833:0.2972:0.4763	2.389	0.04107	939	0.14249	.;.;THAP-type zinc finger|THAP-type zinc finger;.;.;.;.;.;THAP-type zinc finger|THAP-type zinc finger	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	399.27	34	chr4	75516961	.	T	G	399.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.266;DP=175;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.97;ReadPosRankSum=0.694;SOR=0.61	GT:AD:DP:GQ:PL	0/1:10,15:25:99:409,0,231	5	0	1	1
chr4	75804156	75804156	G	A	exonic	USO1	.	nonsynonymous SNV	USO1:NM_003715:exon18:c.G2009A:p.R670K,USO1:NM_001290049:exon20:c.G2042A:p.R681K	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	.	.	0.00219649	0.0015	0	0.0003	0	0	0	0	0.0109	0.0012354	191	154602	rs184028252	0.0006	0.0006	0.0003	0.0010	0.0105	0.0006	0.0006	0.0099	0.0097	2.989e-05	8.965e-05	0	0	0	0.0005	8.996e-07	0.0003	0.0105	0.0002	0.0002	0.0002	0.0003	0.0066	0.0002	0.0001	0.0048	0.0042	0	0	0.0002	0	0	0	0	0	0	0.0066	.	.	.	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000001	0.84330	N	0.090633	0.996139	0.23105	N	-2.085	0.00160	N	.	.	.	.	.	.	0.176	0.18920	-0.9596	0.39255	T	0.046	0.19879	T	10	0.0053853393	0.00118	T	.	.	.	0.397	0.71163	.	.	0.0675242888579	0.06100	0.1253222387636828	0.12458	.	.	0.36901062727	0.20689	T	0.007366	0.06780	T	-0.362376	0.03998	T	-0.283909	0.46401	T	0.0338161513209343	0.02606	T	0.638236	0.25169	T	0.10135704	0.23942	0.19846734	0.43681	0.10135704	0.23942	0.19846734	0.43680	-3.063	0.10876	T	.	.	0.056	0.00496	B	.;.	.;.	1.162754	0.15516	11.91	0.41243702196239002	0.02963	0.34284	0.25031	N	AEFDGBI	0.059667	0.11285	N	-1.20645960583525	0.04904	0.2223732	-0.935733786835061	0.11255	0.5722619	0.711209473047024	0.22822	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.35	2.91	0.32903	4.829000	0.62427	5.157000	0.47777	-0.104000	0.15758	1.000000	0.71638	1.000000	0.68203	0.794000	0.37478	0.8264:0.0:0.1736:0.0	9.676	0.39203	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	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	453.46	35	chr4	75804156	.	G	A	453.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.438;DP=236;ExcessHet=0;FS=1.076;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.72;ReadPosRankSum=-0.454;SOR=0.534	GT:AD:DP:GQ:PL	0/1:30,22:52:99:464,0,792	6	0	1	0
chr4	76166260	76166260	T	A	exonic	SCARB2	.	nonsynonymous SNV	SCARB2:NM_001204255:exon7:c.A800T:p.Y267F,SCARB2:NM_005506:exon10:c.A1229T:p.Y410F	Epilepsy, progressive myoclonic 4, with or without renal failure, Autosomal recessive	1	1518	3	0	0	3	0.000987167	.	.	.	520502	Progressive_myoclonic_epilepsy	MONDO:MONDO:0020074,MedGen:C0751778,OMIM:PS254800,Orphanet:308,Orphanet:98261	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.225	0.0181889289597	.	.	8.238e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs777270813	1.231e-05	1.231e-05	1.633e-05	8.25e-06	0.0003	7.7e-06	6.35e-06	0.0001	0.0001	0	0	0	0.0003	0	0	5.396e-06	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	0.11050	T	0.551	0.12848	T	0.002	0.09854	B	0.03	0.21741	B	0.000005	0.62929	D	0.110934	0.999934	0.51612	D	1.235	0.30780	L	-0.61	0.71779	T	-1.3	0.34992	N	0.427	0.47765	-0.6951	0.60670	T	0.279	0.65109	T	10	0.43326747	0.57629	T	0.018189	0.40170	T	0.225	0.52323	0.797	0.91729	0.193865811164	0.18958	0.826242829663348	0.82582	0.223792437189	0.24896	0.517915844917	0.41332	T	0.234883	0.60201	T	-0.104615	0.35662	T	-0.218921	0.52840	T	0.376824302184032	0.28060	T	0.889011	0.67973	D	0.657118	0.75744	0.38668182	0.63554	0.657118	0.75746	0.38668182	0.63554	-4.131	0.25980	T	0.14011160077437554	0.15652	0.123	0.30920	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.252396	0.28770	17.91	0.96955385019923512	0.31755	0.93632	0.58750	D	AEFBI	0.475317	0.51921	N	0.0415018028291463	0.43753	2.66205	0.23485268371034	0.51793	3.358746	0.999999241073093	0.74766	0.744818	0.98587	0	0.732433	0.95613	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.07	6.07	0.98675	3.760000	0.54947	4.155000	0.42174	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	14.164	0.65000	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	.	.	.	.	.	.	.	.	0.07143	922.63	34	chr4	76166260	.	T	A	922.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.735;DP=240;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.98;ReadPosRankSum=-1.005;SOR=0.673	GT:AD:DP:GQ:PL	0/1:27,39:66:99:933,0,554	6	0	1	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	514.71	21	chr4	87615730	.	ATAG	*	514.71	.	AC=6;AF=0.429;AN=14;DP=257;ExcessHet=0.0509;FS=0;MLEAC=6;MLEAF=0.429;MQ=58.07;QD=3.06;SOR=0.724	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:19,38:57:99:.:.:1386,0,675:.	2	1	4	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	601.9	21	chr4	87615734	.	CAGTGACAGCAGCAACAGCAGTGACAGCAGCGAT	*	601.9	.	AC=6;AF=0.429;AN=14;DP=276;ExcessHet=0.0509;FS=0;MLEAC=6;MLEAF=0.429;MQ=57.54;QD=3.58;SOR=0.724	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:19,38:57:99:.:.:1386,0,675:.	2	1	4	0
chr4	88132628	88132628	T	C	exonic	ABCG2	.	nonsynonymous SNV	ABCG2:NM_001257386:exon3:c.A211G:p.M71V,ABCG2:NM_001348986:exon3:c.A211G:p.M71V,ABCG2:NM_001348987:exon3:c.A211G:p.M71V,ABCG2:NM_001348989:exon3:c.A211G:p.M71V,ABCG2:NM_004827:exon3:c.A211G:p.M71V,ABCG2:NM_001348985:exon4:c.A211G:p.M71V,ABCG2:NM_001348988:exon4:c.A211G:p.M71V	.	419	1099	4	0	0	4	0.00181653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.602	0.038708706416	0.0008	0.000199681	0.0009	0.0002	0.0007	0	0	0.0010	0.0011	0.0016	0.0007697	119	154602	rs148475733	0.0007	0.0007	0.0007	0.0008	0.0040	0.0007	0.0007	0.0027	0.0023	5.974e-05	0.0007	0.0004	0	0.0001	0.0040	0.0007	0.0008	0.0015	0.0008	0.0008	0.0009	0.0008	0.0017	0.0007	0.0007	0.0011	0.0010	9.62e-05	0	0.0014	0.0006	0	0.0002	0	0.0013	0.0005	0.0017	0.078	0.65419	T	0.188	0.41742	T	0.815	0.62824	P	0.674	0.60373	P	0.000000	0.84330	D	0.000000	0.999995	0.58761	D	-2.32	0.00092	N	1.47	0.31987	T	-3.41	0.67129	D	0.814	0.88466	0.171	0.85418	D	0.404	0.75409	T	10	0.09197295	0.16157	T	0.038709	0.58383	D	0.602	0.84291	.	.	0.730699672202	0.72830	.	.	0.0453724689316	0.04917	0.58058398962	0.50168	T	0.315834	0.68741	T	0.0550983	0.58997	T	0.281741	0.87221	D	0.863053739070892	0.51332	D	0.860814	0.92845	D	0.7839551	0.82898	0.69957274	0.82301	0.7839551	0.82899	0.69957274	0.82302	-9.475	0.71082	D	.	.	0.359	0.66799	A	.;.;.;.	.;.;.;.	4.312071	0.65921	24.9	0.96374141426099658	0.29594	0.98112	0.79700	D	AEFI	0.880009	0.80634	D	0.179410712347126	0.50212	3.213326	0.347380083858577	0.58350	4.005017	0.999999997660583	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	5.32	5.32	0.75377	7.728000	0.83805	7.683000	0.65396	0.607000	0.46521	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.265	0.65659	599	0.68140	.;ABC transporter-like;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.004076	0.000000	0.000000	0.000000	0.000000	0.007576	0.08333	490.27	34	chr4	88132628	.	T	C	490.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0;DP=221;ExcessHet=0;FS=2.508;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.43;ReadPosRankSum=0.715;SOR=1.038	GT:AD:DP:GQ:PL	0/1:25,22:47:99:500,0,580	5	0	1	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	.	.	.	.	.	.	.	.	0.5	1470.26	74	chr4	99347057	.	C	G	1470.26	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.608;DP=640;ExcessHet=11.5949;FS=371.344;MLEAC=6;MLEAF=0.5;MQ=59.94;MQRankSum=0;QD=2.7;ReadPosRankSum=-0.101;SOR=10.961	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:55,39:108:99:.:.:328,0,721:.	0	0	6	1
chr4	99908842	99908842	T	A	exonic	DNAJB14	.	nonsynonymous SNV	DNAJB14:NM_001278310:exon3:c.A305T:p.D102V,DNAJB14:NM_001031723:exon4:c.A506T:p.D169V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.974	0.323098567769	.	.	8.265e-06	0	0	0	0	1.503e-05	0	0	6.5e-06	1	154602	rs770627510	2.761e-06	2.736e-06	2.745e-06	2.776e-06	0.0007	6.5e-07	4.4e-07	0.0002	0.0001	0	0	0	0	0	0.0007	0	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	1	0.81001	D	4.16	0.97626	H	-1.68	0.82897	D	-8.06	0.96621	D	0.984	0.99337	0.982	0.96896	D	0.841	0.94673	D	10	0.990291	0.99525	D	0.323099	0.91533	D	0.974	0.99740	0.94	0.99182	0.971345757431	0.97103	0.9161035530012551	0.91585	1.82390175866	0.91984	0.813775718212	0.84071	D	0.570309	0.85761	D	0.464139	0.93105	D	0.428927	0.93019	D	0.999723494052887	0.98678	D	0.990101	0.96950	D	0.9260877	0.93847	0.89217514	0.94421	0.9260877	0.93847	0.89217514	0.94421	-16.327	0.98210	D	.	.	0.988	0.92981	P	.	.	5.378510	0.90144	31	0.9940760891716266	0.63122	0.98416	0.82551	D	AEFGBI	0.889171	0.82299	D	1.05074920217489	0.97106	15.60014	0.95121608610903	0.97440	16.13303	0.999999985539213	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.8	5.8	0.92081	7.468000	0.79953	7.776000	0.68567	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:0.0:0.0:1.0	16.155	0.81470	783	0.47268	DnaJ domain|DnaJ domain|DnaJ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	595.27	31	chr4	99908842	.	T	A	595.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.435;DP=225;ExcessHet=0;FS=0.956;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.45;ReadPosRankSum=0.897;SOR=0.662	GT:AD:DP:GQ:PL	0/1:34,29:63:99:605,0,773	5	0	1	1
chr4	109690945	109690948	TCTG	-	exonic	CASP6	.	frameshift deletion	CASP6:NM_032992:exon3:c.278_281del:p.T93Rfs*7,CASP6:NM_001226:exon6:c.545_548del:p.T182Rfs*7	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8e-05	.	6.605e-05	0	0	0	0	9.006e-05	0	0.0001	5.17e-05	8	154602	rs770617285	3.216e-05	3.215e-05	3.131e-05	3.301e-05	0.0007	2.478e-05	2.221e-05	0.0002	0.0001	0	0	0.0003	5.044e-05	0	0.0007	2.248e-05	4.968e-05	6.96e-05	1.314e-05	1.313e-05	1.284e-05	1.345e-05	.	2.18e-06	8.2e-07	.	.	0	0	0	0.0003	0	0	0	0	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1690.41	33	chr4	109690944	.	CTCTG	C	1690.41	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.099;DP=286;ExcessHet=0;FS=2.543;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.25;ReadPosRankSum=-0.538;SOR=0.904	GT:AD:DP:GQ:PL	0/1:59,45:104:99:1701,0,2342	6	0	1	0
chr4	140563137	140563137	C	G	exonic	UCP1	.	nonsynonymous SNV	UCP1:NM_021833:exon4:c.G601C:p.A201P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.377	0.0293953235492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.759e-05	0.0002	3.296e-05	2.218e-05	3.267e-05	2.08e-05	1.831e-05	2.392e-05	2.122e-05	3.018e-05	0	0	0	0	0	3.267e-05	1.667e-05	2.335e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.22312	T	0.203	0.27325	T	0.949	0.53761	P	0.761	0.56482	P	0.008935	0.30598	N	0.367111	1	0.08975	N	3.205	0.89189	M	-1.23	0.78860	T	-2.05	0.47008	N	0.643	0.65501	-0.4766	0.69490	T	0.493	0.80757	T	10	0.76555115	0.76675	D	0.029395	0.51914	D	0.377	0.69527	0.425	0.47021	0.867737003841	0.86645	0.8997779227898309	0.89949	0.733378337434	0.62839	0.275326251984	0.06849	T	0.503659	0.82306	D	0.0583213	0.59402	T	-0.154002	0.58889	T	0.917825281620026	0.57582	D	0.40366	0.10339	T	0.28733265	0.51744	0.26873308	0.52745	0.28733265	0.51744	0.26873308	0.52744	-7.449	0.57250	T	.	.	0.826	0.78531	P	.	.	2.363669	0.30321	18.40	0.99216242249267406	0.55747	0.70984	0.34819	D	AEFBI	0.260905	0.37897	N	-0.150634784784455	0.35206	2.019386	-0.344403961495631	0.26682	1.475416	0.680793574183654	0.22476	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.22	0.338	0.15214	1.750000	0.37956	-0.150000	0.11428	-0.176000	0.10722	0.930000	0.32276	0.000000	0.08366	0.270000	0.23768	0.1804:0.289:0.0:0.5306	3.693	0.07887	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	1667.34	47	chr4	140563137	.	C	G	1667.34	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-1.692;DP=408;ExcessHet=11.5949;FS=373.141;MLEAC=7;MLEAF=0.583;MQ=60;MQRankSum=0;QD=4.61;ReadPosRankSum=-0.677;SOR=9.72	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:35,19:54:99:0|1:140563137_C_G:185,0,923:140563137	0	0	6	1
chr4	140563138	140563138	C	G	exonic	UCP1	.	nonsynonymous SNV	UCP1:NM_021833:exon4:c.G600C:p.E200D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.0146202776725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	2.052e-06	1.362e-06	0	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.631	0.05137	T	0.791	0.04181	T	0.004	0.12183	B	0.007	0.12992	B	0.003241	0.35241	N	0.324932	0.999999	0.08975	N	0.56	0.15190	N	-1.27	0.79277	T	-0.52	0.16187	N	0.133	0.12913	-1.0108	0.26666	T	0.158	0.49027	T	10	0.05424103	0.05744	T	0.01462	0.34856	T	0.090	0.26093	0.368	0.37687	0.494433119893	0.49078	0.5936266468194845	0.59292	0.149167586053	0.16817	0.271067947149	0.06281	T	0.121596	0.44467	T	-0.194226	0.21639	T	-0.516769	0.20622	T	0.0746878460049629	0.09294	T	0.60264	0.22576	T	0.06687306	0.14429	0.04191142	0.04870	0.06687306	0.14429	0.04191142	0.04870	-4.395	0.29489	T	.	.	0.106	0.19720	B	.	.	0.547365	0.09157	5.942	0.36715842428115708	0.02377	0.06566	0.12580	N	AEFBI	0.061408	0.11738	N	-1.30471918549485	0.03621	0.1620578	-1.29537821251235	0.04493	0.2120394	0.729658486604041	0.23029	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.22	-1.38	0.08554	-1.260000	0.02967	-2.964000	0.03187	-0.218000	0.08083	0.004000	0.16614	0.000000	0.08366	0.312000	0.24784	0.2442:0.2523:0.3582:0.1453	2.216	0.03717	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	1464.34	47	chr4	140563138	.	C	G	1464.34	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.877;DP=414;ExcessHet=11.5949;FS=372.265;MLEAC=7;MLEAF=0.583;MQ=60;MQRankSum=0;QD=4.23;ReadPosRankSum=-0.457;SOR=9.704	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:35,19:54:99:0|1:140563137_C_G:185,0,923:140563137	0	0	6	1
chr4	158709755	158709755	T	C	exonic	PPID	.	nonsynonymous SNV	PPID:NM_005038:exon10:c.A1094G:p.Y365C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.574	0.145653304829	.	.	3.355e-05	0	0	0	0	6.13e-05	0	0	2.59e-05	4	154602	rs756487143	1.648e-05	1.71e-05	1.504e-05	1.793e-05	9.024e-06	1.115e-05	9.37e-06	4.56e-06	3.33e-06	0	0	0.0004	0	0	0	9.024e-06	4.98e-05	0	1.314e-05	1.313e-05	0	2.689e-05	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0.0003	0	0	0	1.47e-05	0	0	0.003	0.68238	D	0.065	0.44702	T	0.997	0.70673	D	0.798	0.58097	P	0.002186	0.37053	N	0.000000	1	0.81001	D	2.72	0.79541	M	-0.85	0.74371	T	-7.36	0.94647	D	0.808	0.80375	0.187	0.85686	D	0.572	0.84536	D	10	0.7834688	0.78048	D	0.145653	0.82783	D	0.574	0.82742	.	.	0.90954841204	0.90864	0.6015263181131546	0.60083	0.717406964783	0.62043	0.699870646	0.67124	T	0.114213	0.43185	T	0.322658	0.84660	D	0.241186	0.85202	D	0.709624409675598	0.41182	D	0.984801	0.94749	D	0.49898973	0.67037	0.59819627	0.76665	0.49898973	0.67037	0.59819627	0.76666	-10.913	0.79179	D	.	.	0.267	0.50157	B	.	.	5.252047	0.88183	29.5	0.99746488940270528	0.83927	0.98949	0.89045	D	AEBI	0.723166	0.67287	D	0.793812607354425	0.85717	8.66025	0.786101491290568	0.88809	9.724318	0.999999705059703	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.17	6.17	0.99707	6.232000	0.72264	7.847000	0.70787	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	16.822	0.85699	928	0.17405	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.07143	911.44	36	chr4	158709755	.	T	C	911.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.999;DP=303;ExcessHet=0;FS=0.728;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.14;ReadPosRankSum=1.06;SOR=0.841	GT:AD:DP:GQ:PL	0/1:69,43:112:99:922,0,1603	6	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	0.2143	170.44	6	chr4	189953101	.	C	T	170.44	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-0.495;DP=60;ExcessHet=1.1394;FS=0;MLEAC=3;MLEAF=0.214;MQ=51.64;MQRankSum=-2.141;QD=6.09;ReadPosRankSum=1.47;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:5,2:7:69:0|1:189953101_C_T:69,0,163:189953101	4	0	3	0
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	.	.	.	.	.	.	.	.	0.2143	183.18	5	chr4	189953126	.	G	T	183.18	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-0.524;DP=52;ExcessHet=1.1394;FS=0;MLEAC=3;MLEAF=0.214;MQ=49.72;MQRankSum=-2.1;QD=7.63;ReadPosRankSum=-0.524;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:3,2:5:75:0|1:189953101_C_T:75,0,120:189953101	4	0	3	0
chr4	189957425	189957425	A	G	exonic	FRG1	.	nonsynonymous SNV	FRG1:NM_004477:exon6:c.A460G:p.S154G	.	1	846	675	0	0	675	0.285171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.185	0.011311376018	.	.	.	.	.	.	.	.	.	.	.	.	.	rs189762674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.05061	T	1.0	0.03232	T	0.047	0.21998	B	0.081	0.28987	B	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	.	.	.	2.6	0.41750	T	0.43	0.08971	N	0.459	0.49602	-1.0801	0.07330	T	0.058	0.24391	T	10	0.2421839	0.41410	T	0.011311	0.28804	T	0.185	0.45933	0.71	0.84601	0.556105722742	0.55269	0.4529120959340938	0.45209	0.26085393997	0.28643	0.762159407139	0.76251	T	0.040046	0.25396	T	0.00380976	0.52179	T	-0.232304	0.51549	T	0.277109354734421	0.24049	T	.	.	.	0.28638732	0.51655	0.3411275	0.59856	0.28638732	0.51655	0.3411275	0.59855	-6.244	0.48277	T	.	.	0.080	0.07937	B	.;.;.	.;.;.	3.090452	0.41606	21.4	0.25288622774737562	0.01159	0.90585	0.51883	D	AEDGBI	0.513229	0.54111	D	-0.436064510326238	0.24215	1.305949	-0.265167819402356	0.29255	1.637516	0.999920515020144	0.46280	0.706548	0.73137	0	0.724815	0.89359	0	0.644132	0.48003	0	0.683672	0.66515	0	.	.	4.19	4.19	0.48645	5.243000	0.65217	7.387000	0.58489	-0.212000	0.08331	1.000000	0.71638	1.000000	0.68203	0.404000	0.26872	1.0:0.0:0.0:0.0	11.575	0.50111	991	0.01385	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2143	148.89	60	chr4	189957425	.	A	G	148.89	.	AC=3;AF=0.214;AN=14;BaseQRankSum=0.416;DP=492;ExcessHet=1.1394;FS=3.079;MLEAC=3;MLEAF=0.214;MQ=45.91;MQRankSum=-1.422;QD=0.49;ReadPosRankSum=-1.752;SOR=0.974	GT:AD:DP:GQ:PL	0/1:81,11:92:27:27,0,2106	4	0	3	0
chr5	1037960	1037960	C	T	exonic	NKD2	.	nonsynonymous SNV	NKD2:NM_033120:exon10:c.C943T:p.R315W	.	425	1060	35	2	0	39	0.0180639	.	.	.	709550	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.115	.	0.0083	0.00379393	0.0091	0.0024	0.0054	0.0001	0.0018	0.0135	0.0099	0.0051	0.0073673	1139	154602	rs35433301	0.0096	0.0095	0.0095	0.0096	0.0332	0.0094	0.0094	0.0293	0.0278	0.0023	0.0049	0.0433	0.0001	0.0015	0.0332	0.0100	0.0118	0.0041	0.0076	0.0076	0.0076	0.0076	0.0101	0.0073	0.0071	0.0094	0.0092	0.0019	0.0274	0.0086	0.0472	0.0002	0.0022	0.0238	0.0101	0.0095	0.0050	0.001	0.78490	D	0.004	0.74150	D	1.0	0.90584	D	0.998	0.88582	D	0.000030	0.55875	D	0.000000	0.999908	0.19694	N	2.135	0.59519	M	0.77	0.49642	T	-4.62	0.79143	D	0.469	0.50508	-0.8906	0.48881	T	0.164	0.50160	T	10	0.006133914	0.00138	T	.	.	.	0.115	0.32236	.	.	0.457377140028	0.45363	0.2829412715231285	0.28207	0.300538019554	0.32405	0.621095120907	0.55884	T	0.543633	0.84418	D	-0.456211	0.01037	T	-0.42013	0.31060	T	0.0627240683940684	0.07590	T	0.747625	0.36808	T	0.310553	0.53834	0.1938994	0.42984	0.310553	0.53834	0.1938994	0.42983	-5.409	0.41006	T	.	.	0.143	0.31381	B	.	.	2.911736	0.38627	20.8	0.99506249474795516	0.68322	0.08312	0.14257	N	AEFBCI	0.112808	0.22283	N	-0.557253112866003	0.20257	1.066543	-0.81538513277936	0.14123	0.7363064	0.0651303777871885	0.15351	0.653496	0.48692	0	0.588066	0.40923	0	0.596874	0.31795	0	0.562822	0.20929	0	.	.	3.73	-0.0997	0.12960	-0.051000	0.11840	0.646000	0.20366	-0.252000	0.07121	0.000000	0.06391	0.156000	0.23222	0.006000	0.07323	0.5464:0.4536:0.0:0.0	9.954	0.40823	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	1	0	0.033804	0.015152	0.044959	0.047059	0.100000	0.068966	0.018405	0.007634	0.07143	652.63	39	chr5	1037960	.	C	T	652.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.41;DP=240;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.31;ReadPosRankSum=-1.202;SOR=0.631	GT:AD:DP:GQ:PL	0/1:27,26:53:99:663,0,575	6	0	1	0
chr5	1083865	1083865	C	T	exonic	SLC12A7	.	nonsynonymous SNV	SLC12A7:NM_006598:exon8:c.G1009A:p.A337T	.	424	1084	14	0	0	14	0.00641613	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.0120447086386	0.0004	0.000599042	0.0005	0.0003	0.0002	0	0	0.0005	0	0.0015	0.0004075	63	154602	rs140054338	0.0004	0.0004	0.0003	0.0004	0.0028	0.0003	0.0003	0.0018	0.0014	0.0001	0.0005	0.0044	2.526e-05	0	0.0028	0.0002	0.0009	0.0014	0.0004	0.0004	0.0004	0.0004	0.0008	0.0003	0.0003	0.0005	0.0004	0.0001	0	0.0008	0.0058	0	0	0.0034	0.0002	0.0019	0.0006	0.575	0.06086	T	0.572	0.08746	T	0.003	0.11197	B	0.001	0.04355	B	0.989428	0.08040	N	0.995188	1	0.08975	N	0.895	0.22405	L	-0.02	0.62918	T	-0.37	0.13226	N	0.099	0.08088	-1.0027	0.29139	T	0.138	0.45508	T	10	0.009790659	0.00220	T	0.012045	0.30251	T	0.040	0.10527	.	.	0.381916209588	0.37799	0.7172251238862917	0.71665	0.299493112566	0.32315	0.50070476532	0.38926	T	0.104547	0.41421	T	-0.600419	0.00145	T	-0.680788	0.06936	T	0.00439147579536579	0.00047	T	0.0336966	0.00222	T	0.02900809	0.02327	0.040754575	0.04476	0.02900809	0.02326	0.040754575	0.04476	-4.967	0.36479	T	.	.	0.074	0.05274	B	.	.	0.608214	0.09765	6.533	0.81511094854553279	0.13721	0.02140	0.06305	N	AEFGBI	0.041504	0.06318	N	-1.15469746675839	0.05703	0.2606895	-1.1844235802697	0.06169	0.2961284	0.902212495718761	0.26121	0.695654	0.57023	0	0.633656	0.55848	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	3.67	1.63	0.22882	-0.121000	0.10618	-13.249000	0.00470	-0.970000	0.01946	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.459:0.2063:0.3346	3.329	0.06661	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	930.46	35	chr5	1083865	.	C	T	930.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.23;DP=253;ExcessHet=0;FS=0.831;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.63;ReadPosRankSum=0.871;SOR=0.804	GT:AD:DP:GQ:PL	0/1:41,39:80:99:941,0,841	6	0	1	0
chr5	5464420	5464420	C	A	exonic	ICE1	.	nonsynonymous SNV	ICE1:NM_015325:exon13:c.C5086A:p.P1696T	.	418	1084	19	1	0	21	0.00959342	.	.	.	699115	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.013	0.00696914659558	0.0019	0.00159744	0.0016	0.0039	0.0009	0	0.0002	0.0013	0.0023	0.0035	0.0015006	232	154602	rs201780270	0.0010	0.0010	0.0009	0.0011	0.0097	0.0010	0.0010	0.0077	0.0069	0.0058	0.0010	0.0070	0	7.493e-05	0.0097	0.0006	0.0020	0.0030	0.0023	0.0023	0.0022	0.0023	0.0050	0.0021	0.0020	0.0045	0.0043	0.0050	0	0.0029	0.0075	0.0002	0.0002	0.0068	0.0006	0.0028	0.0019	0.306	0.14207	T	0.751	0.04790	T	0.003	0.11197	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	.	.	.	2.84	0.10674	T	-0.95	0.25332	N	0.018	0.00252	-0.9285	0.44357	T	0.008	0.02801	T	9	0.0038103461	0.00071	T	0.006969	0.18458	T	0.013	0.01715	.	.	0.043077524339	0.03247	0.11298806026524169	0.11226	0.104874384788	0.11861	0.278141140938	0.07234	T	0.014733	0.12488	T	-0.713136	0.00030	T	-0.795089	0.02028	T	0.000480072017607736	0.00004	T	0.682432	0.29103	T	0.022594998	0.00933	0.033577852	0.02276	0.022594998	0.00933	0.033577852	0.02276	-4.271	0.27768	T	.	.	0.076	0.05800	B	.	.	0.066843	0.04764	1.383	0.46320027297151689	0.03701	0.03164	0.08136	N	AEFGBI	0.021940	0.01037	N	-1.39993683557654	0.02640	0.1168466	-1.39235374901299	0.03333	0.1552532	0.997232817439051	0.35404	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.27	-1.79	0.07504	0.940000	0.28589	0.027000	0.13676	-0.257000	0.07002	0.001000	0.13787	0.000000	0.08366	0.043000	0.14563	0.4909:0.1542:0.2591:0.0957	3.059	0.05819	763	0.50172	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.007049	0.005051	0.006793	0.011696	0.000000	0.000000	0.003049	0.003788	0.07143	1995.44	47	chr5	5464420	.	C	A	1995.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.783;DP=435;ExcessHet=0;FS=0.546;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.5;ReadPosRankSum=-0.711;SOR=0.612	GT:AD:DP:GQ:PL	0/1:106,84:190:99:2006,0,2737	6	0	1	0
chr5	14397101	14397101	T	C	exonic	TRIO	.	nonsynonymous SNV	TRIO:NM_007118:exon29:c.T4370C:p.M1457T	Mental retardation, autosomal dominant 44, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.803	0.607880101629	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.0	0.92824	D	0.995	0.67487	D	0.986	0.76916	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.62	0.93917	H	-0.15	0.65192	T	-5.22	0.85103	D	0.933	0.93841	0.311	0.87728	D	0.546	0.83298	D	10	0.91930556	0.91287	D	0.60788	0.96567	D	0.803	0.93582	0.768	0.89530	0.770173575234	0.76806	0.8865844041988105	0.88627	2.08621322631	0.94675	0.935062050819	0.99249	D	0.461553	0.79828	T	0.385551	0.89062	D	0.316041	0.88925	D	0.99721485376358	0.91033	D	0.994516	0.98171	D	0.8800467	0.89670	0.8839668	0.93840	0.8800467	0.89671	0.8839668	0.93840	-12.877	0.88850	D	0.8126676643583495	0.88728	0.993	0.96223	P	.;.;.	.;.;.	4.517657	0.70805	25.6	0.98558679360083823	0.42948	0.96380	0.68855	D	AEFBHCI	0.913403	0.87534	D	0.886268292424851	0.91070	10.701	0.841236870122834	0.92495	11.45868	0.999999999999891	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.723	0.93126	0	.	.	5.65	5.65	0.86881	7.949000	0.87258	7.838000	0.70402	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:0.0:1.0	16.178	0.81689	700	0.57880	Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	145.53	33	chr5	14397101	.	T	C	145.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.563;DP=267;ExcessHet=0;FS=47.565;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=2.11;ReadPosRankSum=-0.306;SOR=5.547	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:54,15:69:99:0|1:14397101_T_C:156,0,1833:14397101	6	0	1	0
chr5	14397102	14397102	G	A	exonic	TRIO	.	nonsynonymous SNV	TRIO:NM_007118:exon29:c.G4371A:p.M1457I	Mental retardation, autosomal dominant 44, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.445	0.0409430656795	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.91255	D	0.013	0.63109	D	0.979	0.59044	D	0.97	0.72226	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.245	0.63543	M	0.19	0.60236	T	-3.48	0.69357	D	0.82	0.81559	-0.4822	0.69288	T	0.387	0.74187	T	10	0.7300097	0.74233	D	0.040943	0.59658	D	0.445	0.74727	0.603	0.73466	0.508882987362	0.50527	0.8542333247851932	0.85386	2.03962625952	0.94218	0.903453052044	0.96813	D	0.394776	0.75383	T	0.315296	0.84136	D	0.215124	0.83929	D	0.961490571498871	0.66098	D	0.997445	0.98962	D	0.7682298	0.81942	0.7615341	0.85911	0.7682298	0.81943	0.7615341	0.85912	-11.132	0.80376	D	0.7776095063335766	0.85790	0.993	0.96282	P	.;.;.	.;.;.	4.666563	0.74536	26.2	0.99449286284606386	0.65172	0.97759	0.76927	D	AEFBHCI	0.904397	0.85465	D	0.618858874204644	0.74370	6.120863	0.693219286210317	0.81863	7.627383	1.0	0.98316	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.723	0.93126	0	.	.	5.65	5.65	0.86881	9.914000	0.98694	11.752000	0.95431	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.0:0.0:1.0:0.0	20.096	0.97848	700	0.57880	Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	145.53	28	chr5	14397102	.	G	A	145.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-4.22;DP=265;ExcessHet=0;FS=47.565;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=2.11;ReadPosRankSum=-0.24;SOR=5.547	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:54,15:69:99:0|1:14397101_T_C:156,0,1833:14397101	6	0	1	0
chr5	36301338	36301338	G	A	exonic	RANBP3L	.	nonsynonymous SNV	RANBP3L:NM_001161429:exon1:c.C79T:p.R27W,RANBP3L:NM_001323273:exon1:c.C79T:p.R27W,RANBP3L:NM_001323274:exon1:c.C79T:p.R27W,RANBP3L:NM_001323275:exon1:c.C79T:p.R27W,RANBP3L:NM_001323276:exon1:c.C79T:p.R27W,RANBP3L:NM_001323277:exon1:c.C79T:p.R27W,RANBP3L:NM_001323278:exon1:c.C79T:p.R27W,RANBP3L:NM_001323279:exon1:c.C79T:p.R27W,RANBP3L:NM_001323280:exon1:c.C79T:p.R27W,RANBP3L:NM_145000:exon1:c.C79T:p.R27W	.	428	1089	5	0	0	5	0.00229043	.	.	.	2397023	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.081	0.0116513581002	7.7e-05	0.000199681	0.0002	9.612e-05	0.0003	0	0	0.0003	0	0.0001	0.000194	30	154602	rs199744327	0.0003	0.0003	0.0002	0.0003	0.0035	0.0002	0.0002	0.0023	0.0019	0.0002	0.0002	0	0.0001	1.874e-05	0.0035	0.0003	0.0003	5.798e-05	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0001	0.0002	0.0002	0.0001	0	0.0001	0	0.0004	0	0.0034	0.0003	0	0	0.03	0.56456	D	0.022	0.66756	D	0.0	0.02946	B	0.0	0.01387	B	0.006562	0.01131	N	2.757700	1	0.08975	N	0.69	0.16971	N	1.83	0.49068	T	-1.44	0.50337	N	0.106	0.09490	-1.0038	0.28814	T	0.100	0.37290	T	10	0.02332297	0.00607	T	0.011651	0.29486	T	0.081	0.23632	.	.	0.0846915920261	0.08053	0.11250574355419879	0.11179	0.100410451016	0.11348	0.178125739098	0.00078	T	0.006657	0.06088	T	-0.391404	0.02635	T	-0.483845	0.24038	T	0.0394194445153502	0.03586	T	0.651035	0.29475	T	0.069856755	0.15340	0.06948678	0.14648	0.069856755	0.15340	0.06948678	0.14647	-5.043	0.37304	T	.	.	0.085	0.11317	B	.;.;.;.	.;.;.;.	2.124432	0.27044	17.33	0.98994177077715184	0.50003	0.04400	0.09985	N	AEFDGBI	0.126166	0.24298	N	-0.78030788468535	0.13823	0.6838528	-0.758512872852891	0.15513	0.8162614	0.999997987163053	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.18	3.37	0.37692	0.454000	0.21539	2.420000	0.32683	0.676000	0.76740	0.000000	0.06391	0.578000	0.25607	0.065000	0.16320	0.0915:0.1733:0.7352:0.0	7.099	0.24506	684	0.59539	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	911.46	42	chr5	36301338	.	G	A	911.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.21;DP=316;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.6;ReadPosRankSum=0.438;SOR=0.745	GT:AD:DP:GQ:PL	0/1:65,41:106:99:922,0,1537	6	0	1	0
chr5	39383073	39383073	G	A	exonic	DAB2	.	nonsynonymous SNV	DAB2:NM_001244871:exon9:c.C823T:p.R275C,DAB2:NM_001343:exon10:c.C886T:p.R296C	.	422	1099	1	0	0	1	0.000454752	.	.	.	709920	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.045	.	0.0050	0.0081869	0.0027	0.0166	0.0010	0.0150	0	4.495e-05	0	0.0004	0.0024773	383	154602	rs79344176	0.0010	0.0010	0.0010	0.0009	0.0189	0.0009	0.0009	0.0177	0.0172	0.0189	0.0006	0	0.0150	1.872e-05	0.0005	1.169e-05	0.0016	0.0004	0.0052	0.0052	0.0054	0.0048	0.0167	0.0049	0.0047	0.0156	0.0152	0.0167	0	0.0013	0	0.0120	0	0	7.351e-05	0.0024	0	0.167	0.29554	T	0.106	0.39340	T	0.523	0.37559	P	0.122	0.32387	B	0.000001	0.62929	N	0.054376	0.999996	0.81001	D	1.79	0.46772	L	1.01	0.41058	T	-1.6	0.38540	N	0.522	0.56317	-1.0880	0.05873	T	0.036	0.15334	T	10	0.00784722	0.00178	T	.	.	.	0.045	0.12272	.	.	0.452650218784	0.44890	0.3557649943223402	0.35490	0.377479978467	0.39179	0.426284730434	0.28700	T	0.406668	0.76250	T	-0.472347	0.00822	T	-0.437644	0.29072	T	0.0201326593684953	0.00714	T	0.913909	0.69637	D	0.09828568	0.23180	0.06538869	0.13246	0.09828568	0.23179	0.06538869	0.13245	-5.318	0.44548	T	.	.	0.102	0.29588	B	.;.;.	.;.;.	4.243111	0.64342	24.7	0.98449192221071924	0.41598	0.80714	0.40281	D	AEFGBCI	0.689714	0.65028	D	-0.111454323652253	0.36894	2.13878	0.0367786518032509	0.41437	2.489425	0.999995903949419	0.74766	0.67177	0.52595	0	0.573888	0.26702	0	0.597571	0.31856	0	0.711	0.71501	0	.	.	5.73	4.86	0.62624	2.438000	0.44495	5.916000	0.51093	-0.107000	0.15377	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.1443:0.0:0.7082:0.1475	7.176	0.24921	578	0.69858	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.1429	3410.24	35	chr5	39383073	.	G	A	3410.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.14;DP=444;ExcessHet=0.3476;FS=0.895;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=11.92;ReadPosRankSum=1.01;SOR=0.754	GT:AD:DP:GQ:PL	0/1:65,69:134:99:1740,0,1431	5	0	2	0
chr5	71502726	71502726	A	T	exonic	BDP1	.	nonsynonymous SNV	BDP1:NM_018429:exon15:c.A2176T:p.I726L	.	9	1431	74	8	0	90	0.0304878	.	.	.	500910	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.024	.	0.0048	0.00379393	0.0056	0.0011	0.0047	0.0001	0.0002	0.0076	0.0100	0.0059	0.0054462	842	154602	rs34588160	0.0050	0.0050	0.0048	0.0053	0.0520	0.0049	0.0049	0.0472	0.0453	0.0027	0.0068	0.0287	0.0001	0.0001	0.0520	0.0043	0.0085	0.0068	0.0047	0.0047	0.0047	0.0048	0.0094	0.0045	0.0043	0.0082	0.0077	0.0008	0	0.0094	0.0314	0	0	0.0646	0.0054	0.0090	0.0060	0.964	0.02079	T	0.446	0.13103	T	0.001	0.07471	B	0.001	0.04355	B	0.073714	0.02279	N	1.858550	1	0.08975	N	0.69	0.16971	N	2.77	0.11407	T	-0.21	0.10308	N	0.136	0.13484	-0.9768	0.35727	T	0.012	0.04510	T	10	0.0032429397	0.00055	T	.	.	.	0.024	0.04979	0.078	0.00601	0.0666544352282	0.05500	0.03314513103180605	0.03262	0.0372861232549	0.03950	0.247713685036	0.03531	T	0.005732	0.11224	T	-0.727399	0.00025	T	-0.81349	0.01588	T	0.00146636472080958	0.00015	T	0.616838	0.23625	T	0.023202907	0.01041	0.03177215	0.01813	0.024720207	0.01331	0.035487026	0.02809	-2.516	0.05891	T	.	.	0.094	0.14385	B	.;.	.;.	0.290408	0.06670	3.169	0.64207342975242188	0.07430	0.01812	0.05644	N	AEFBI	0.034522	0.04290	N	-1.79741032345659	0.00551	0.02374199	-1.90727798069213	0.00474	0.02097533	0.998651112745746	0.37392	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.7	-9.41	0.00518	-1.979000	0.01583	-0.794000	0.07402	-0.118000	0.14412	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.1906:0.1176:0.6918:0.0	13.604	0.61503	368	0.84463	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.048338	0.020202	0.069293	0.067251	0.000000	0.077586	0.021341	0.015152	0.1429	594.65	33	chr5	71502726	.	A	T	594.65	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.03;DP=214;ExcessHet=0.3476;FS=0.908;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=8.15;ReadPosRankSum=1.33;SOR=0.906	GT:AD:DP:GQ:PL	0/1:33,16:49:99:343,0,796	5	0	2	0
chr5	75702781	75702781	G	A	exonic	POC5	.	nonsynonymous SNV	POC5:NM_152408:exon4:c.C262T:p.P88S,POC5:NM_001099271:exon5:c.C337T:p.P113S	.	432	1060	28	2	0	32	0.0148699	.	.	.	1600307	not_provided|Retinal_dystrophy|Optic_atrophy	MedGen:C3661900|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|Human_Phenotype_Ontology:HP:0000648,Human_Phenotype_Ontology:HP:0007751,Human_Phenotype_Ontology:HP:0007855,MONDO:MONDO:0003608,MedGen:C0029124	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.037	.	0.0026	0.0101837	0.0130	0.0002	0.0092	0.0409	0.0337	0.0084	0.0212	0.0163	0.0067011	1036	154602	rs79392300	0.0058	0.0058	0.0054	0.0061	0.0172	0.0057	0.0056	0.0161	0.0157	0.0008	0.0046	0.0113	0.0172	0.0226	0.0148	0.0039	0.0083	0.0140	0.0060	0.0060	0.0048	0.0073	0.0237	0.0057	0.0056	0.0203	0.0190	0.0010	0.0011	0.0041	0.0150	0.0237	0.0244	0.0204	0.0041	0.0109	0.0139	0.368	0.11623	T	0.658	0.13993	T	0.008	0.14655	B	0.012	0.16012	B	0.387173	0.13307	N	0.754894	0.98446	0.40149	D	2.135	0.59519	M	1.98	0.28604	T	-0.61	0.23808	N	0.056	0.03613	-1.0156	0.25143	T	0.021	0.09009	T	10	0.0016588569	0.00020	T	.	.	.	0.037	0.09474	.	.	0.0986583533028	0.09354	0.5153100026487207	0.51453	0.062071779075	0.06909	0.241766959429	0.02951	T	7.75E-4	0.14314	T	-0.648449	0.00074	T	-0.683279	0.06785	T	0.00539200280690588	0.00058	T	0.665433	0.28129	T	0.01881412	0.00405	0.02529857	0.00570	0.01881412	0.00404	0.02529857	0.00570	-2.72	0.07472	T	.	.	0.087	0.14062	B	.;.;.	.;.;.	0.863859	0.12365	8.902	0.26308428443095727	0.01254	0.11070	0.16387	N	AEFBI	0.050338	0.08788	N	-1.53072416774126	0.01651	0.07220092	-1.48750863070593	0.02446	0.1125266	0.698364834324272	0.22667	0.719381	0.83141	0	0.723133	0.82719	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.65	-0.667	0.10823	0.094000	0.14946	0.505000	0.19029	-0.110000	0.15115	0.061000	0.21800	0.333000	0.24383	0.350000	0.25659	0.2301:0.1778:0.4138:0.1783	1.892	0.03053	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	1	0	1	0	0.009073	0.015152	0.001359	0.014620	0.000000	0.008772	0.006098	0.018939	0.07143	611.49	35	chr5	75702781	.	G	A	611.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.883;DP=225;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=-3.5;SOR=0.638	GT:AD:DP:GQ:PL	0/1:22,24:46:99:622,0,563	6	0	1	0
chr5	80654889	80654889	T	0	exonic	MSH3	.	.	.	Endometrial carcinoma, somatic;Familial adenomatous polyposis 4, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	138.26	14	chr5	80654889	.	T	*	138.26	.	AC=3;AF=0.214;AN=14;DP=272;ExcessHet=0.0921;FS=5.576;MLEAC=3;MLEAF=0.214;MQ=60;QD=1.06;SOR=1.179	GT:AD:DP:GQ:PL	0/1:26,25:51:99:889,0,846	4	0	3	0
chr5	113434145	113434145	C	T	exonic	TSSK1B	.	nonsynonymous SNV	TSSK1B:NM_032028:exon1:c.G695A:p.R232H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.00535436789817	.	0.000798722	0.0004	9.634e-05	0	0	0	8.993e-05	0	0.0023	0.0003428	53	154602	rs192780356	0.0002	0.0002	0.0002	0.0003	0.0017	0.0002	0.0002	0.0015	0.0014	8.961e-05	0.0002	0	0	0	0.0009	0.0001	0.0002	0.0017	0.0002	0.0002	0.0002	0.0002	0.0021	0.0001	0.0001	0.0011	0.0009	7.217e-05	0	0	0	0	0	0	0.0002	0	0.0021	0.071	0.35165	T	0.164	0.31026	T	0.76	0.43524	P	0.362	0.43260	B	0.003870	0.34390	U	0.000000	1	0.08975	N	0.865	0.21413	L	-0.19	0.65931	T	-2.71	0.57762	D	0.187	0.20395	-0.9654	0.38132	T	0.130	0.43968	T	10	0.012768626	0.00273	T	0.005354	0.13710	T	0.065	0.18881	.	.	0.558302604704	0.55490	0.36351902315552626	0.36265	0.542473764241	0.51356	0.322719812393	0.13833	T	0.168126	0.51502	T	-0.506439	0.00526	T	-0.506717	0.21652	T	0.0542253077132334	0.06227	T	0.927407	0.73262	D	0.10843564	0.25638	0.10341443	0.24812	0.10843564	0.25637	0.10341443	0.24812	-7.286	0.56096	T	.	.	0.138	0.30103	B	.	.	2.873058	0.37996	20.6	0.99235152647533109	0.56342	0.00323	0.01694	N	AEFGBI	0.029721	0.02859	N	-0.627467425242449	0.18123	0.9383469	-0.79519860632651	0.14613	0.7644187	0.0127885525056049	0.12374	0.516011	0.20929	0	0.547309	0.14657	0	0.573078	0.19857	0	0.586402	0.36253	0	.	.	0.9	0.9	0.18410	0.527000	0.22695	3.910000	0.40403	0.333000	0.19617	0.000000	0.06391	0.999000	0.35428	0.303000	0.24570	0.0:1.0:0.0:0.0	4.957	0.13397	922	0.19044	Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.008621	0.003049	0.000000	0.07143	3304.44	33	chr5	113434145	.	C	T	3304.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.55;DP=436;ExcessHet=0;FS=1.001;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.83;ReadPosRankSum=-0.194;SOR=0.782	GT:AD:DP:GQ:PL	0/1:112,127:239:99:3315,0,2594	6	0	1	0
chr5	138181443	138181443	G	A	exonic	KIF20A	.	nonsynonymous SNV	KIF20A:NM_005733:exon3:c.G187A:p.E63K	.	435	1081	6	0	0	6	0.00276753	.	.	.	721229	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.107	.	0.0003	0.00798722	0.0081	0.0003	0.0352	0.0307	0.0237	0.0019	0.0143	0.0005	0.0070504	1090	154602	rs3734116	0.0027	0.0027	0.0029	0.0026	0.0284	0.0027	0.0026	0.0271	0.0266	0.0002	0.0284	3.826e-05	0.0204	0.0243	0.0005	0.0003	0.0030	0.0008	0.0045	0.0045	0.0033	0.0058	0.0274	0.0042	0.0041	0.0237	0.0223	0.0002	0	0.0112	0	0.0274	0.0268	0	0.0009	0.0061	0.0006	0.039	0.42487	D	0.198	0.29249	T	0.682	0.41464	P	0.202	0.36942	B	0.008271	0.30928	N	0.149503	0.999759	0.54805	D	1.65	0.42232	L	2.23	0.70365	T	-2.41	0.52938	N	0.249	0.33360	-0.7120	0.59854	T	0.125	0.43028	T	10	0.006201625	0.00140	T	.	.	.	0.107	0.30369	.	.	0.765344188043	0.76320	0.5378201080403755	0.53707	1.70071209603	0.90279	0.422218024731	0.28142	T	0.068381	0.33443	T	-0.317222	0.07128	T	-0.201284	0.54525	T	0.0313485906176549	0.02202	T	0.89801	0.64352	D	0.18532784	0.39890	0.17170508	0.39372	0.18532784	0.39890	0.17170508	0.39371	-9.11	0.68401	D	.	.	0.291	0.52219	B	.;.;.;.	.;.;.;.	3.728383	0.53317	23.3	0.99841561043542626	0.92229	0.99501	0.96794	D	AEFBI	0.870076	0.79089	D	0.251892416619992	0.53731	3.540876	0.386440201124813	0.60728	4.263735	0.999999999999994	0.74766	0.722319	0.85440	0	0.587265	0.34161	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.44	5.44	0.79348	6.116000	0.71264	9.939000	0.82641	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.943000	0.48514	0.0:0.0:1.0:0.0	19.270	0.93993	172	0.93355	.;Kinesin motor domain;.;Kinesin motor domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.1429	1968.29	34	chr5	138181443	.	G	A	1968.29	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.14;DP=305;ExcessHet=0.3476;FS=4.82;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=12.08;ReadPosRankSum=0.543;SOR=1.083	GT:AD:DP:GQ:PL	0/1:54,35:89:99:763,0,1478	5	0	2	0
chr5	138386226	138386226	G	A	exonic	KDM3B	.	nonsynonymous SNV	KDM3B:NM_016604:exon7:c.G985A:p.A329T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.0050907779686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	0.19639	T	0.448	0.13030	T	0.001	0.07471	B	0.001	0.04355	B	0.000815	0.41658	N	0.203233	1	0.81001	D	0.55	0.14455	N	0.11	0.61208	T	-0.27	0.11366	N	0.175	0.18784	-1.0628	0.11069	T	0.090	0.34463	T	10	0.06675702	0.09204	T	0.005091	0.12908	T	0.091	0.26358	0.132	0.03662	0.147330786459	0.14319	0.1916634261127402	0.19084	0.550695722903	0.51928	0.434996545315	0.29892	T	0.010045	0.09105	T	-0.219422	0.18073	T	-0.552961	0.17042	T	0.100532970980296	0.12416	T	0.712529	0.32403	T	0.026300933	0.01671	0.050727747	0.08021	0.026300933	0.01671	0.050727747	0.08020	-3.985	0.23578	T	.	.	0.065	0.01884	B	.	.	2.111299	0.26865	17.27	0.98544586678743984	0.42770	0.79100	0.39133	D	AEFBI	0.192396	0.31955	N	-0.380122664428079	0.26178	1.426746	-0.197696092152855	0.31621	1.79126	0.999871070192208	0.44625	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635259	0.50027	0	.	.	5.35	3.57	0.40014	0.730000	0.25711	2.928000	0.35601	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.998000	0.85391	0.1636:0.1348:0.5444:0.1572	2.629	0.04638	367	0.84523	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	212.9	96	chr5	138386226	.	G	A	212.9	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-4.643;DP=484;ExcessHet=0;FS=321.354;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=1.9;ReadPosRankSum=2.22;SOR=7.978	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:88,24:112:99:0|1:138386225_T_C:223,0,2892:138386225	6	0	1	0
chr5	139887481	139887481	C	T	exonic	NRG2	.	nonsynonymous SNV	NRG2:NM_001184935:exon2:c.G731A:p.S244N,NRG2:NM_004883:exon2:c.G731A:p.S244N,NRG2:NM_013981:exon2:c.G731A:p.S244N,NRG2:NM_013982:exon2:c.G731A:p.S244N,NRG2:NM_013983:exon2:c.G731A:p.S244N	.	.	.	.	.	.	.	.	.	.	.	2325350	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.031	0.00739077046255	.	.	8.286e-06	0	0	0	0	1.505e-05	0	0	6.5e-06	1	154602	rs774596341	1.371e-06	1.369e-06	1.365e-06	1.378e-06	1.804e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.804e-06	0	0	6.59e-06	6.574e-06	0	1.35e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.184	0.23360	T	0.164	0.31026	T	0.087	0.26037	B	0.062	0.30857	B	0.000522	0.43581	N	0.227934	0.755028	0.33972	D	0.135	0.08676	N	1.58	0.29085	T	-0.32	0.21003	N	0.423	0.46274	-1.0194	0.23910	T	0.045	0.19518	T	10	0.22371674	0.39157	T	0.007391	0.19603	T	0.031	0.07369	0.366	0.37361	0.498748557451	0.49510	0.4556412808571356	0.45482	0.884494878246	0.69920	0.694656133652	0.66374	T	0.195255	0.55127	T	-0.302609	0.08415	T	-0.672453	0.07451	T	0.361964405132886	0.27486	T	0.79652	0.44558	T	0.08836372	0.20609	0.102840796	0.24660	0.08836372	0.20609	0.102840796	0.24659	-7.518	0.70016	D	.	.	0.221	0.45409	B	.;.;.;.;.;.	.;.;.;.;.;.	3.573511	0.50344	22.9	0.99603636505572957	0.74338	0.69576	0.34242	D	AEFBI	0.254283	0.37363	N	-0.162749740398921	0.34693	1.983396	0.0478054099699094	0.41967	2.53021	0.600115135775481	0.21718	0.562547	0.31514	0	0.653731	0.59785	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.29	5.29	0.74430	2.879000	0.48220	5.991000	0.52331	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.9072:0.0:0.0928	10.020	0.41207	21	0.98493	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2143	406.97	64	chr5	139887481	.	C	T	406.97	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-3.088;DP=351;ExcessHet=1.1394;FS=365.426;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=1.93;ReadPosRankSum=0.151;SOR=7.978	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:74,24:98:99:0|1:139887481_C_T:210,0,2291:139887481	4	0	3	0
chr5	140823355	140823355	T	C	exonic	PCDHA5	.	nonsynonymous SNV	PCDHA5:NM_018908:exon1:c.T1580C:p.V527A,PCDHA5:NM_031501:exon1:c.T1580C:p.V527A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.0239271250674	.	.	.	.	.	.	.	.	.	.	.	.	.	rs951193537	1.37e-06	1.368e-06	1.363e-06	1.377e-06	1.16e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	0	1.659e-05	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.003	0.76473	D	0.028	0.23930	B	0.016	0.24394	B	.	.	.	.	1	0.81001	D	0.755	0.19153	N	0.72	0.50976	T	-2.03	0.46673	N	0.06	0.09490	-0.9615	0.38897	T	0.105	0.38390	T	9	0.10566044	0.19541	T	0.023927	0.46909	T	0.114	0.32008	0.486	0.56939	0.579236789951	0.57594	0.4495510684078065	0.44873	0.403073445309	0.41255	.	.	.	0.01021	0.09237	T	-0.202503	0.20443	T	-0.528658	0.19421	T	0.225051117730841	0.21713	T	0.225177	0.02943	T	0.28469548	0.51495	0.42910224	0.66603	0.28469548	0.51495	0.42910224	0.66603	-7.594	0.58785	D	.	.	0.159	0.38764	B	.;.;.	.;.;.	2.803451	0.36886	20.4	0.96905333639864899	0.31554	0.48542	0.28231	N	AEFDBI	0.265387	0.38253	N	-0.554792138457409	0.20333	1.071142	-0.50307683271821	0.22070	1.196899	0.0697484896517192	0.15500	0.553676	0.25195	0	0.588015	0.36545	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	3.86	3.86	0.43689	1.006000	0.29449	.	.	0.605000	0.46263	0.001000	0.13787	0.014000	0.20376	0.185000	0.21450	0.0:0.0:0.0:1.0	13.004	0.58097	28	0.98252	.;.;Cadherin-like|Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	6643.24	43	chr5	140823355	.	T	C	6643.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.597;DP=833;ExcessHet=0.3476;FS=0.523;MLEAC=2;MLEAF=0.143;MQ=59.92;MQRankSum=0.341;QD=11.8;ReadPosRankSum=-0.048;SOR=0.642	GT:AD:DP:GQ:PL	0/1:119,140:259:99:3402,0,2953	5	0	2	0
chr5	140876137	140876137	-	A	exonic	PCDHA12	.	frameshift insertion	PCDHA12:NM_018903:exon1:c.666dupA:p.T223Nfs*15,PCDHA12:NM_031864:exon1:c.666dupA:p.T223Nfs*15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.318e-05	0	0.0002	0	0	3.002e-05	0	0	2.59e-05	4	154602	rs781824852	1.3e-05	1.3e-05	1.361e-05	1.238e-05	0.0005	8.31e-06	6.7e-06	0.0001	7.541e-05	0	0.0001	0.0002	0	0	0.0005	2.698e-06	1.656e-05	2.319e-05	1.314e-05	1.313e-05	2.569e-05	0	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1940.4	36	chr5	140876137	.	T	TA	1940.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.038;DP=320;ExcessHet=0;FS=2.298;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.65;ReadPosRankSum=-0.904;SOR=0.957	GT:AD:DP:GQ:PL	0/1:58,66:124:99:1951,0,1683	6	0	1	0
chr5	140927687	140927687	-	G	exonic	PCDHAC1	.	frameshift insertion	PCDHAC1:NM_018898:exon1:c.796dupG:p.E267Gfs*23,PCDHAC1:NM_031882:exon1:c.796dupG:p.E267Gfs*23	.	432	1076	13	1	0	15	0.00692201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000599042	0.0004	9.614e-05	0.0007	0	0	0.0006	0.0011	0	0.0003946	61	154602	rs536640692	0.0003	0.0003	0.0003	0.0003	0.0114	0.0003	0.0003	0.0092	0.0084	0.0004	0.0006	0.0002	0	0	0.0114	0.0003	0.0005	9.275e-05	0.0004	0.0004	0.0002	0.0006	0.0008	0.0003	0.0003	0.0005	0.0004	2.405e-05	0	0.0008	0	0	0	0.0102	0.0006	0.0019	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008560	0.005051	0.009511	0.020468	0.000000	0.008621	0.003049	0.000000	0.07143	1166.79	40	chr5	140927687	.	T	TG	1166.79	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.897;DP=325;ExcessHet=0;FS=2.321;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.26;ReadPosRankSum=-0.123;SOR=0.825	GT:AD:DP:GQ:PL	0/1:78,48:126:99:1177,0,2161	6	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	.	.	.	.	.	.	.	.	0.4	2953.65	85	chr5	141303079	.	C	G	2953.65	.	AC=4;AF=0.4;AN=10;BaseQRankSum=-5.028;DP=946;ExcessHet=6.1542;FS=234.538;MLEAC=5;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.09;ReadPosRankSum=1.62;SOR=10.441	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:131,42:181:99:.:.:918,0,4276:.	1	0	4	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	.	.	.	.	.	.	.	.	0.5	4033.26	85	chr5	141303081	.	A	G	4033.26	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.252;DP=994;ExcessHet=11.5949;FS=239.513;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.32;ReadPosRankSum=1.4;SOR=9.712	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:131,54:185:99:.:.:1000,0,4243:.	0	0	6	1
chr5	141395182	141395182	C	T	exonic	PCDHGA8	.	nonsynonymous SNV	PCDHGA8:NM_014004:exon1:c.C2369T:p.S790F,PCDHGA8:NM_032088:exon1:c.C2369T:p.S790F	.	191	1319	12	0	0	12	0.0045283	.	.	.	3575415	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.140	0.00890473528546	.	0.000199681	0.0001	0	0	0	0	9.011e-05	0.0011	0.0007	0.0001423	22	154602	rs143509166	8.756e-05	8.756e-05	8.712e-05	8.801e-05	0.0017	7.488e-05	7.035e-05	0.0009	0.0007	5.974e-05	0	0	0	1.872e-05	0.0017	5.036e-05	0.0003	0.0005	8.535e-05	8.53e-05	6.424e-05	0.0001	0.0002	4.953e-05	3.96e-05	9.048e-05	7.012e-05	0	0	0	0	0	9.429e-05	0.0034	0.0002	0	0	0.234	0.18061	T	0.133	0.35082	T	0.0	0.02946	B	0.005	0.11217	B	.	.	.	.	1	0.81001	D	0.48	0.13178	N	0.81	0.48460	T	-2.05	0.47008	N	0.142	0.36043	-1.0392	0.17556	T	0.072	0.29259	T	9	0.028700948	0.01000	T	0.008905	0.23463	T	0.140	0.37593	.	.	0.495172024023	0.49151	0.11320334284700659	0.11248	.	.	.	.	.	0.035685	0.23816	T	-0.426339	0.01560	T	-0.500751	0.22271	T	0.0482627972960472	0.05191	T	0.255674	0.03967	T	0.10975513	0.25946	0.14769743	0.34942	0.10975513	0.25946	0.14769743	0.34941	-6.306	0.48770	T	.	.	0.094	0.14523	B	.;.	.;.	2.488805	0.32106	18.94	0.76062084114784401	0.11318	0.73992	0.36191	D	AEFBI	0.545006	0.55970	D	-0.717891172023897	0.15519	0.7828081	-0.670170512121005	0.17708	0.9427949	0.998262376644592	0.36664	0.549168	0.22868	0	0.547309	0.14657	0	0.602189	0.34648	0	0.616125	0.45549	0	.	.	4.5	3.63	0.40741	0.932000	0.28484	.	.	0.520000	0.23804	0.000000	0.06391	0.061000	0.22037	0.573000	0.30723	0.0:0.9107:0.0:0.0893	11.412	0.49173	804	0.43891	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.000000	0.000000	0.000000	0.008621	0.006098	0.003788	0.1429	4070.65	41	chr5	141395182	.	C	T	4070.65	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.325;DP=459;ExcessHet=0.3476;FS=0.445;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=14.33;ReadPosRankSum=2.34;SOR=0.645	GT:AD:DP:GQ:PL	0/1:59,77:136:99:2017,0,1500	5	0	2	0
chr5	141400463	141400463	A	G	exonic	PCDHGB5	.	nonsynonymous SNV	PCDHGB5:NM_018925:exon1:c.A2336G:p.D779G,PCDHGB5:NM_032099:exon1:c.A2336G:p.D779G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.065e-06	5.274e-05	1.371e-06	2.765e-06	2.718e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.718e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.44302	T	0.009	0.15093	B	0.029	0.21540	B	.	.	.	.	1	0.81001	D	1.51	0.38214	L	.	.	.	.	.	.	0.241	0.34659	.	.	.	.	.	.	.	0.20647642	0.36910	T	.	.	.	.	.	.	.	0.567858160113	0.56450	0.27775437007942005	0.27688	.	.	.	.	.	0.07356	0.34727	T	0.118978	0.66270	D	-0.0668731	0.65849	T	.	.	.	0.475152	0.14192	T	0.18996084	0.40560	0.40470845	0.64891	0.18996084	0.40560	0.40470845	0.64891	-4.16	0.26766	T	.	.	0.089	0.12323	B	.;.	.;.	3.615017	0.51130	23.0	0.70790902653605781	0.09412	0.84947	0.44044	D	AEFDBHCI	.	.	.	.	.	.	.	.	.	0.999600704005591	0.40866	0.090766	0.02384	0	0.097471	0.02872	0	0.129117	0.03641	0	0.023427	0.00073	3	0.343073	0.36021	5.25	5.25	0.73169	2.964000	0.48885	.	.	0.751000	0.87719	1.000000	0.71638	0.999000	0.35428	0.831000	0.39176	0.9146:0.0:0.0854:0.0	9.287	0.36925	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3571	684.11	39	chr5	141400463	.	A	G	684.11	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-6.424;DP=1058;ExcessHet=4.7409;FS=235.068;MLEAC=5;MLEAF=0.357;MQ=59.99;MQRankSum=0;QD=0.72;ReadPosRankSum=1.47;SOR=9.773	GT:AD:DP:GQ:PL	0/1:188,66:254:99:126,0,3737	2	0	5	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	.	.	.	.	.	.	.	.	0.4167	612.82	72	chr5	154834880	.	G	C	612.82	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-3.109;DP=616;ExcessHet=6.1542;FS=233.663;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=1.23;ReadPosRankSum=1.15;SOR=10.163	GT:AD:DP:GQ:PL	0/1:59,23:88:99:151,0,1021	1	0	5	1
chr5	157052557	157052557	C	0	exonic	HAVCR1	.	.	.	.	1	2	91	30	102	253	0.974194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	40550.0	325	chr5	157052557	.	C	*	40550.0	.	AC=9;AF=0.643;AN=14;BaseQRankSum=0.603;DP=3008;ExcessHet=0;FS=0;MLEAC=9;MLEAF=0.643;MQ=60;MQRankSum=0;QD=15.24;ReadPosRankSum=-0.37;SOR=0.722	GT:AD:DP:GQ:PL	0/1:0,193:445:99:19003,10345,9781	2	4	1	0
chr5	168430220	168430220	A	G	exonic	WWC1	.	nonsynonymous SNV	WWC1:NM_001161661:exon14:c.A2084G:p.K695R,WWC1:NM_001161662:exon14:c.A2084G:p.K695R,WWC1:NM_015238:exon14:c.A2084G:p.K695R	.	419	1096	6	1	0	8	0.00363636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166	0.0163418596336	0.0011	0.000798722	0.0015	0	0.0014	0	0.0003	0.0021	0.0025	0.0012	0.0012613	195	154602	rs61740510	0.0015	0.0015	0.0015	0.0015	0.0023	0.0015	0.0014	0.0017	0.0016	5.975e-05	0.0008	0.0016	0	0.0003	0.0023	0.0017	0.0013	0.0011	0.0010	0.0010	0.0010	0.0010	0.0017	0.0008	0.0008	0.0014	0.0013	0.0002	0	0.0005	0.0023	0	0	0	0.0017	0.0019	0.0015	0.035	0.46910	D	0.038	0.51421	D	0.96	0.64070	D	0.519	0.73362	P	0.000005	0.62929	N	0.104682	0.999994	0.58761	D	2.885	0.83555	M	1.1	0.39050	T	-1.69	0.46673	N	0.244	0.27554	-0.8772	0.49981	T	0.158	0.49178	T	10	0.015007794	0.00315	T	0.016342	0.37549	T	0.166	0.42578	.	.	0.542543016418	0.53907	0.28136465332949323	0.28049	0.241955391217	0.26711	0.446965426207	0.31530	T	0.096653	0.39868	T	-0.426478	0.01557	T	-0.392646	0.34241	T	0.0793158652097816	0.09898	T	0.771723	0.40231	T	0.2853584	0.51557	0.2527979	0.50915	0.2853584	0.51557	0.2527979	0.50914	-5.906	0.45486	T	.	.	0.080	0.11461	B	.;.;.	.;.;.	4.102456	0.61177	24.3	0.99875310549484575	0.95244	0.97318	0.73996	D	AEFDBI	0.607897	0.59769	D	0.396468839924531	0.61230	4.321345	0.355705417135825	0.58852	4.058503	0.999923850039824	0.46280	0.706548	0.73137	0	0.633656	0.55848	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.27	2.9	0.32809	4.974000	0.63486	6.952000	0.57027	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.8542:0.0:0.1458:0.0	9.257	0.36751	955	0.09969	WWC, C2 domain;.;WWC, C2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001008	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.000000	0.07143	1421.44	40	chr5	168430220	.	A	G	1421.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.778;DP=254;ExcessHet=0;FS=5.456;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=18.95;ReadPosRankSum=0.221;SOR=0.256	GT:AD:DP:GQ:PL	0/1:22,53:75:99:1432,0,524	6	0	1	0
chr5	168687085	168687085	G	C	exonic	SLIT3	.	nonsynonymous SNV	SLIT3:NM_001271946:exon30:c.C3229G:p.L1077V,SLIT3:NM_003062:exon30:c.C3208G:p.L1070V	.	414	1107	1	0	0	1	0.000451467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.263	0.0831671694953	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.736e-06	2.736e-06	0	5.5e-06	3.478e-05	6.4e-07	4.3e-07	9.24e-06	4.56e-06	0	0	0	0	0	0	8.993e-07	0	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.028	0.54934	D	0.019	0.17989	B	0.063	0.27082	B	0.007234	0.31521	N	0.356949	0.639407	0.30629	N	0.705	0.18577	N	-2.86	0.91421	D	-0.5	0.15782	N	0.172	0.18376	-0.1979	0.77725	T	0.518	0.81995	D	10	0.3669253	0.53175	T	0.083167	0.74058	D	0.263	0.57612	0.489	0.57415	0.491313100916	0.48765	0.22215626967794755	0.22130	0.331224445869	0.35204	0.453707903624	0.32451	T	0.266133	0.63805	T	-0.00301131	0.51240	T	-0.242102	0.50594	T	0.223448768258095	0.21635	T	0.89941	0.67676	D	0.15801196	0.35572	0.10855253	0.26150	0.15801196	0.35572	0.10855253	0.26150	-6.497	0.50263	T	.	.	0.102	0.22098	B	.;.;.	.;.;.	2.758321	0.36172	20.2	0.99535399021887261	0.70150	0.94516	0.61418	D	AEFDBI	0.711470	0.66490	D	-0.270571709893284	0.30291	1.687527	-0.147654233386005	0.33499	1.916824	0.00162169256437607	0.08719	0.638212	0.43195	0	0.59043	0.45803	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	4.45	2.38	0.28415	2.015000	0.40581	3.852000	0.40093	-0.108000	0.15293	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	0.1985:0.0:0.635:0.1665	4.761	0.12483	967	0.07127	EGF-like, conserved site|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like, conserved site|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	998.45	34	chr5	168687085	.	G	C	998.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.551;DP=266;ExcessHet=0;FS=1.789;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=-0.538;SOR=0.65	GT:AD:DP:GQ:PL	0/1:44,40:84:99:1009,0,1083	6	0	1	0
chr5	176889690	176889690	C	T	exonic	HK3	.	nonsynonymous SNV	HK3:NM_002115:exon7:c.G685A:p.G229S	.	402	1115	5	0	0	5	0.00223714	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.336	0.139327893959	0.0002	0.000998403	0.0005	0.0003	8.642e-05	0	0.0002	0.0005	0	0.0016	0.0004657	72	154602	rs150811542	0.0006	0.0006	0.0005	0.0006	0.0029	0.0005	0.0005	0.0019	0.0018	8.961e-05	8.944e-05	0	0	0.0002	0.0029	0.0005	0.0007	0.0021	0.0003	0.0003	0.0003	0.0004	0.0017	0.0003	0.0002	0.0008	0.0006	0.0001	0	0.0001	0	0	0.0002	0	0.0005	0.0005	0.0017	1.0	0.00964	T	0.38	0.15988	T	0.014	0.16867	B	0.015	0.17295	B	0.000767	0.41888	D	0.108055	0.964984	0.38440	D	-1.305	0.00708	N	-5.12	0.98731	D	1.14	0.01166	N	0.152	0.15609	0.093	0.84040	D	0.615	0.86376	D	10	0.016960025	0.00360	T	0.139328	0.82181	D	0.336	0.65816	.	.	0.911562725633	0.91067	0.5657865727070821	0.56506	0.120693345613	0.13590	0.442217677832	0.30881	T	0.115625	0.43436	T	-0.266717	0.12126	T	-0.16316	0.58067	T	0.0158107012569474	0.00369	T	0.884712	0.60854	D	0.047398232	0.08094	0.08003579	0.18069	0.047398232	0.08094	0.08003579	0.18069	0.88	0.00148	T	.	.	0.102	0.17869	B	.	.	3.325488	0.45760	22.2	0.49007671872478631	0.04137	0.55554	0.29893	D	AEFGBI	0.180607	0.30792	N	-0.54841216727069	0.20534	1.083148	-0.281971400128015	0.28692	1.60171	0.99971189219022	0.42101	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.71	3.7	0.41607	4.612000	0.60873	2.699000	0.34147	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.940000	0.48062	0.0:0.5606:0.0:0.4394	4.404	0.10830	551	0.72115	Hexokinase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.001359	0.005848	0.000000	0.000000	0.003049	0.007576	0.07143	1783.46	33	chr5	176889690	.	C	T	1783.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.938;DP=343;ExcessHet=0;FS=1.363;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.73;ReadPosRankSum=-1.076;SOR=0.876	GT:AD:DP:GQ:PL	0/1:82,70:152:99:1794,0,2162	6	0	1	0
chr5	176896096	176896096	C	G	exonic	HK3	.	nonsynonymous SNV	HK3:NM_002115:exon2:c.G64C:p.G22R	.	425	1094	2	1	0	4	0.00182482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.241	0.050555579138	0.0006	0.000199681	0.0006	0	0.0003	0	0.0002	0.0008	0	0.0005	0.0005304	82	154602	rs201418082	0.0005	0.0005	0.0005	0.0005	0.0021	0.0004	0.0004	0.0012	0.0009	0	0.0006	0.0054	0	3.744e-05	0.0021	0.0004	0.0006	0.0005	0.0004	0.0004	0.0004	0.0005	0.0007	0.0004	0.0003	0.0004	0.0003	9.625e-05	0	0.0007	0.0055	0	0	0.0034	0.0004	0.0009	0.0004	0.005	0.63226	D	0.003	0.76473	D	0.706	0.42003	P	0.294	0.40804	B	0.043315	0.23752	N	0.211546	1	0.08975	N	0.55	0.14455	N	-4.63	0.97902	D	-0.14	0.09135	N	0.337	0.37820	0.245	0.86663	D	0.761	0.91862	D	10	0.006638795	0.00150	T	0.050556	0.64291	D	0.241	0.54641	.	.	0.851315264002	0.84988	0.46432178357590964	0.46351	0.205290401865	0.22950	0.309876739979	0.11889	T	0.053245	0.29389	T	-0.180754	0.23625	T	-0.138836	0.60219	T	0.015969632493224	0.00379	T	0.748625	0.36937	T	0.10052545	0.23737	0.10466212	0.25142	0.10052545	0.23737	0.10466212	0.25142	-4.398	0.29530	T	.	.	0.099	0.16886	B	.	.	1.521710	0.19533	14.31	0.9805506315314636	0.37897	0.08065	0.14038	N	AEFDBHCI	0.089402	0.18121	N	-0.665448381877779	0.17012	0.8717984	-0.788548299149569	0.14775	0.7738248	0.999997874999774	0.74766	0.569682	0.32691	0	0.59043	0.45803	0	0.573078	0.19857	0	0.567339	0.31927	0	.	.	3.56	1.73	0.23565	0.113000	0.15333	1.052000	0.23646	0.599000	0.40250	0.003000	0.16062	0.001000	0.17328	0.025000	0.12405	0.0:0.6571:0.221:0.1219	4.845	0.12869	597	0.68309	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001009	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	850.45	34	chr5	176896096	.	C	G	850.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.558;DP=251;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.81;ReadPosRankSum=0.58;SOR=0.806	GT:AD:DP:GQ:PL	0/1:36,36:72:99:861,0,833	6	0	1	0
chr5	179893359	179893359	G	C	exonic	TBC1D9B	.	nonsynonymous SNV	TBC1D9B:NM_015043:exon5:c.C686G:p.S229C,TBC1D9B:NM_198868:exon5:c.C686G:p.S229C	.	426	1079	17	0	0	17	0.00781609	.	.	.	2825638	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.610	.	0.0045	0.00139776	0.0049	0.0008	0.0052	0	0.0107	0.0066	0.0033	0.0008	0.0012548	194	154602	rs139809387	0.0063	0.0063	0.0065	0.0061	0.0072	0.0062	0.0061	0.0070	0.0070	0.0010	0.0047	0.0018	0	0.0096	0.0035	0.0072	0.0053	0.0010	0.0045	0.0045	0.0044	0.0046	0.0064	0.0042	0.0041	0.0059	0.0057	0.0013	0	0.0025	0.0020	0	0.0135	0	0.0064	0.0019	0.0017	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.765	0.80766	M	2.84	0.11515	T	-4.41	0.77391	D	0.889	0.88798	-1.0186	0.24171	T	0.072	0.29098	T	10	0.024248451	0.00661	T	.	.	.	0.610	0.84719	.	.	0.639847762547	0.63687	0.8677550484405777	0.86740	0.757533882034	0.64076	0.731003046036	0.71652	T	0.392613	0.75224	T	-0.188367	0.22498	T	-0.0359618	0.67971	D	0.0212403679310026	0.00826	T	.	.	.	0.621704	0.73855	0.47692066	0.69694	0.621704	0.73856	0.47692066	0.69694	-10.96	0.79499	D	.	.	0.573	0.74072	P	.;.	.;.	5.066482	0.84472	28.3	0.99214046058140548	0.55685	0.99641	0.98258	D	AEFDBI	0.939111	0.93927	D	0.811204734519189	0.86804	9.003738	0.750885099411998	0.86223	8.821129	0.999999999524504	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.57	4.57	0.55860	9.904000	0.98639	11.751000	0.95409	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:0.0:1.0:0.0	17.523	0.87688	884	0.28482	.;GRAM domain|TCB1D9/TCB1D9B, PH-GRAM domain 1	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.000000	0.002924	0.050000	0.000000	0.000000	0.003788	0.07143	794.49	35	chr5	179893359	.	G	C	794.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.14;DP=254;ExcessHet=0;FS=6.074;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.32;ReadPosRankSum=1.12;SOR=1.408	GT:AD:DP:GQ:PL	0/1:45,32:77:99:805,0,1090	6	0	1	0
chr5	181195354	181195354	G	A	exonic	TRIM7	.	nonsynonymous SNV	TRIM7:NM_203297:exon5:c.C802T:p.R268W,TRIM7:NM_203293:exon7:c.C1348T:p.R450W,TRIM7:NM_203294:exon7:c.C724T:p.R242W,TRIM7:NM_203295:exon7:c.C724T:p.R242W,TRIM7:NM_203296:exon7:c.C724T:p.R242W	.	432	1051	38	1	0	40	0.0186741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.352	.	0.0036	0.0117812	0.0165	0.0014	0.0309	0.0237	0	0.0074	0.0152	0.0361	0.0080271	1241	154602	rs61751566	0.0060	0.0061	0.0052	0.0068	0.0315	0.0059	0.0058	0.0305	0.0301	0.0008	0.0167	0.0215	0.0114	0.0002	0.0147	0.0033	0.0098	0.0315	0.0052	0.0052	0.0048	0.0057	0.0321	0.0049	0.0048	0.0279	0.0264	0.0014	0.0154	0.0131	0.0170	0.0148	0.0003	0.0136	0.0031	0.0061	0.0321	0.025	0.48642	D	0.017	0.60337	D	1.0	0.90584	D	1.0	0.97372	D	0.000066	0.52346	D	0.000000	0.99971	0.20638	N	1.18	0.29980	L	-0.43	0.69657	T	-2.16	0.48850	N	0.21	0.23758	-0.7029	0.60299	T	0.243	0.61131	T	10	0.0049039125	0.00105	T	.	.	.	0.352	0.67326	.	.	.	.	0.6146241830987929	0.61394	1.70361355796	0.90347	0.636679887772	0.58093	T	0.109151	0.42279	T	-0.401669	0.02258	T	-0.325371	0.41983	T	0.0562181223179985	0.06560	T	0.884412	0.60756	D	0.0585932	0.11805	0.084190056	0.19349	0.0585932	0.11804	0.084190056	0.19349	-8.731	0.67788	D	.	.	0.349	0.65506	A	.;.;.;.	.;.;.;.	3.155350	0.42731	21.6	0.99636088301373116	0.76326	0.07290	0.13312	N	AEFDGBI	0.373871	0.45898	N	-0.626117239998297	0.18163	0.9407484	-0.817992306727555	0.14060	0.7326963	0.999906244961365	0.45458	0.554377	0.28877	0	0.588066	0.40923	0	0.596394	0.31383	0	0.567892	0.33627	0	.	.	4.79	0.698	0.17247	0.309000	0.19094	1.546000	0.27261	-1.131000	0.01456	0.000000	0.06391	0.941000	0.28781	0.074000	0.16894	0.0:0.0:0.3805:0.6195	11.825	0.51537	.	.	SPRY domain|B30.2/SPRY domain|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	0.012208	0.005263	0.006812	0.020588	0.000000	0.017544	0.003067	0.015267	0.08333	874.27	33	chr5	181195354	.	G	A	874.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.54;DP=225;ExcessHet=0;FS=6.65;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.25;ReadPosRankSum=0.366;SOR=1.504	GT:AD:DP:GQ:PL	0/1:34,32:66:99:884,0,830	5	0	1	1
chr6	30071626	30071626	C	G	exonic	RNF39	.	nonsynonymous SNV	RNF39:NM_025236:exon4:c.G748C:p.V250L,RNF39:NM_170769:exon4:c.G748C:p.V250L	.	428	1089	5	0	0	5	0.00229043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.199	0.339640893794	.	.	0.0051	0	0	0	0	0	0	0.0087	0.0001488	23	154602	rs776173276	0.0003	0.0003	0.0003	0.0004	0.0027	0.0003	0.0003	0.0024	0.0023	0	0.0001	0	0	6.434e-05	0.0022	0.0002	0.0004	0.0027	0.0002	0.0002	0.0003	0.0002	0.0017	0.0002	0.0001	0.0008	0.0006	0	0	0.0001	0	0	0	0	0.0004	0	0.0017	0.092	0.37326	T	0.028	0.54934	D	0.946	0.53761	P	0.687	0.61462	P	0.001270	0.39594	N	0.000000	0.616953	0.32671	D	2.475	0.71894	M	1.85	0.24472	T	-2.12	0.49352	N	0.495	0.53093	-1.0023	0.29255	T	0.094	0.35738	T	10	0.00939399	0.00212	T	0.339641	0.91979	D	0.199	0.48268	0.564	0.68499	0.21279746466	0.20884	0.29193615318766536	0.29106	2.21629160257	0.95813	0.725455641747	0.70843	T	0.160159	0.50389	T	-0.417508	0.01774	T	-0.376489	0.36131	T	0.167232894779799	0.18390	T	.	.	.	0.16387461	0.36558	0.25100803	0.50703	0.16387461	0.36557	0.25100803	0.50702	-4.665	0.39874	T	.	.	0.516	0.65314	A	.;.	.;.	3.128317	0.42264	21.5	0.98761582607004172	0.45816	0.49577	0.28465	N	AEFDBHCIJ	0.357766	0.44868	N	0.23232232843626	0.52771	3.449252	0.130870301454089	0.46135	2.864598	0.999999469154877	0.74766	0.582742	0.33608	0	0.541168	0.11318	0	0.503968	0.08637	0	0.554799	0.18163	0	.	.	4.7	4.7	0.58776	2.830000	0.47837	.	.	0.454000	0.21428	0.988000	0.36536	0.998000	0.33993	0.207000	0.22098	0.0:1.0:0.0:0.0	15.575	0.76111	862	0.33134	.;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	0.001854	0.000000	0.004545	0.000000	0.000000	0.000000	0.003521	0.000000	0.1429	363.65	9	chr6	30071626	.	C	G	363.65	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.751;DP=121;ExcessHet=0.3476;FS=1.309;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=10.39;ReadPosRankSum=0.952;SOR=1.022	GT:AD:DP:GQ:PL	0/1:12,14:26:99:267,0,262	5	0	2	0
chr6	30649755	30649755	G	C	exonic	C6orf136	.	nonsynonymous SNV	C6orf136:NM_001109938:exon2:c.G270C:p.K90N,C6orf136:NM_001161376:exon2:c.G813C:p.K271N	.	419	1098	5	0	0	5	0.00227169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.00666572034481	0.0004	.	0.0007	0	0.0009	0	0	0.0005	0	0.0024	0.0005498	85	154602	rs200121038	0.0005	0.0005	0.0004	0.0005	0.0028	0.0004	0.0004	0.0024	0.0022	0	0.0006	0.0010	0	3.744e-05	0.0028	0.0003	0.0005	0.0026	0.0003	0.0003	0.0004	0.0002	0.0017	0.0002	0.0002	0.0008	0.0006	0	0	0.0003	0.0006	0	0	0	0.0004	0.0005	0.0017	0.28	0.37536	T	0.258	0.28032	T	0.001	0.07471	B	0.001	0.04355	B	0.010282	0.29986	N	0.339064	0.999996	0.58761	D	0.2	0.09183	N	.	.	.	0.12	0.05604	N	0.255	0.29197	-1.0740	0.08556	T	0.034	0.14813	T	9	0.009708077	0.00218	T	0.006666	0.17585	T	0.053	0.14996	0.138	0.04187	0.082315109003	0.07666	0.2432891339129268	0.24242	0.0739344201887	0.08283	.	.	.	0.002817	0.08507	T	-0.542384	0.00324	T	-0.55835	0.16532	T	0.0185415881737574	0.00569	T	0.608239	0.22965	T	0.067924134	0.14753	0.060545366	0.11549	0.067924134	0.14753	0.060545366	0.11548	-4.354	0.30573	T	.	.	0.131	0.40360	B	.;.;.	.;.;.	2.760529	0.36205	20.2	0.98677170686070281	0.44554	0.59098	0.30821	D	AEFDBHCI	0.149272	0.27333	N	-0.6854944614728	0.16435	0.8372905	-0.537525574889935	0.21137	1.142072	0.999998263624572	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.683762	0.67416	0	.	.	5.82	0.714	0.17336	0.847000	0.27348	.	.	-0.126000	0.13398	0.998000	0.41325	0.999000	0.35428	0.859000	0.40722	0.0689:0.1164:0.4861:0.3286	5.248	0.14825	851	0.35303	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001634	0.000000	0.001359	0.000000	0.000000	0.008621	0.003049	0.000000	0.1429	1970.26	47	chr6	30649755	.	G	C	1970.26	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-1.378;DP=273;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=15.51;ReadPosRankSum=-1.303;SOR=0.661	GT:AD:DP:GQ:PL	0/1:29,51:80:99:1210,0,697	5	0	2	0
chr6	31029812	31029812	T	0	exonic	MUC22	.	.	.	.	445	715	203	2	157	364	0.126451	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	3604.69	533	chr6	31029812	.	T	*	3604.69	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.759;DP=3655;ExcessHet=1.383;FS=0.523;MLEAC=2;MLEAF=0.167;MQ=59.69;MQRankSum=-2.912;QD=1.81;ReadPosRankSum=-3.068;SOR=0.642	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:195,302:668:99:0|1:31029812_T_*:9729,0,6904:31029812	4	0	2	1
chr6	31270002	31270002	C	T	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon5:c.G979A:p.V327M,HLA-C:NM_002117:exon5:c.G979A:p.V327M	.	42	1035	385	60	0	505	0.196117	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	.	.	0.141573	0.1174	0.1904	0.1851	0.0488	0.1727	0.1036	0.1330	0.0921	0.102534	15852	154602	rs146911342	1.427e-05	0.0053	1.28e-05	1.579e-05	0.0002	7.66e-06	5.6e-06	8.98e-05	6.321e-05	0.0002	0	0	0	0	0	3.189e-06	0	0.0002	3.138e-05	0.0086	0	6.583e-05	0.0002	5.21e-06	1.95e-06	2.84e-05	1.186e-05	0.0002	0	0	0	0	0	0	0	0	0	0.047	0.40319	D	0.062	0.46406	T	0.023	0.18885	B	0.021	0.22741	B	.	.	.	.	1	0.08975	P	.	.	.	5.37	0.01042	T	-1.48	0.36980	N	0.17	0.18103	-0.9653	0.38151	T	0.002	0.00585	T	8	0.0033346713	0.00058	T	.	.	.	0.084	0.24469	.	.	.	.	0.14371634720666823	0.14294	0.510872535537	0.49183	0.311629235744	0.12153	T	0.095	0.39449	T	-0.600027	0.00146	T	-0.490854	0.23302	T	0.00723602823328332	0.00083	T	0.783822	0.42110	T	.	.	.	.	.	.	.	.	-7.182	0.55352	T	.	.	0.119	0.26388	B	.;.;.	.;.;.	1.630154	0.20816	14.92	0.35910209056378567	0.02280	0.09829	0.15495	N	AEFDBHCI	0.041671	0.06366	N	-0.93655345300227	0.09997	0.4756529	-1.07653106513011	0.08164	0.4002044	0.999999182371296	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	2.67	-1.63	0.07900	0.654000	0.24603	.	.	0.539000	0.25131	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.34:0.3867:0.2733	3.715	0.07965	934	0.15400	.;.;.	.	.	.	.	chr6:31237779	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.069628	0.045455	0.089552	0.028090	0.000000	0.046296	0.069930	0.077236	0.1429	4775.65	99	chr6	31270002	.	C	T	4775.65	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-1.148;DP=653;ExcessHet=0.3476;FS=1.479;MLEAC=2;MLEAF=0.143;MQ=59.22;MQRankSum=0.611;QD=17.82;ReadPosRankSum=1.06;SOR=0.58	GT:AD:DP:GQ:PL	0/1:77,73:150:99:2775,0,2912	5	0	2	0
chr6	31270250	31270250	C	A	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon4:c.G855T:p.M285I,HLA-C:NM_002117:exon4:c.G855T:p.M285I	.	42	1114	319	47	0	413	0.15638	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	.	.	0.147564	0.0652	0.1246	0.0907	0.0399	0.0897	0.0532	0.0972	0.0679	0.0598505	9253	154602	rs41540117	0.0001	0.0045	5.08e-05	0.0002	0.0011	0.0001	0.0001	0.0008	0.0007	0.0005	0.0002	0.0001	0.0002	3.795e-05	0	7.457e-05	0.0001	0.0011	1.561e-05	0.0024	2.991e-05	0	0.0002	0	0	.	.	0	0	0.0002	0	0	0	0	0	0	0	0.001	0.78490	D	0.017	0.60337	D	0.0	0.07471	B	0.0	0.11217	B	0.002056	0.37364	U	0.000000	1	0.08975	P	.	.	.	4.31	0.02412	T	1.0	0.01408	N	0.102	0.08506	-1.1114	0.02952	T	0.009	0.03448	T	9	0.0022325218	0.00032	T	.	.	.	0.144	0.38394	0.415	0.45380	.	.	0.40286916197994754	0.40202	0.54758036057	0.51724	0.374997138977	0.21546	T	0.020473	0.16112	T	-0.107029	0.35259	T	-0.391516	0.34375	T	0.0737698282644503	0.09171	T	0.523848	0.17660	T	.	.	.	.	.	.	.	.	-3.499	0.16417	T	.	.	0.17	0.38135	B	.;.;.	.;.;.	1.839496	0.23369	15.99	0.41265010250660528	0.02966	0.31228	0.24284	N	AEFBCI	0.105352	0.21052	N	-0.385752648738085	0.25975	1.414194	-0.472263407324781	0.22921	1.247408	0.999999560978343	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	2.67	2.67	0.30756	1.360000	0.33729	.	.	0.539000	0.25131	0.893000	0.31264	0.000000	0.08366	0.008000	0.08271	0.0:1.0:0.0:0.0	9.019	0.35351	934	0.15400	Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set	.	.	.	.	rs115240290	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.091557	0.090909	0.091281	0.080645	0.150000	0.025862	0.129630	0.109848	0.1429	934.65	77	chr6	31270250	.	C	A	934.65	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.861;DP=406;ExcessHet=0.3476;FS=9.238;MLEAC=2;MLEAF=0.143;MQ=48.45;MQRankSum=1.65;QD=7.19;ReadPosRankSum=-1.64;SOR=1.404	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:62,18:80:99:0|1:31270188_G_C:471,0,2369:31270188	5	0	2	0
chr6	31356827	31356827	T	0	exonic	HLA-B	.	.	.	.	73	133	388	93	835	1409	0.683333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	3248.86	79	chr6	31356827	.	T	*	3248.86	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-0.074;DP=685;ExcessHet=0.4813;FS=2.833;MLEAC=6;MLEAF=0.429;MQ=55.9;MQRankSum=-1.834;QD=5.84;ReadPosRankSum=-1.184;SOR=0.498	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,118:118:99:1|1:31356818_C_G:5291,355,0:31356818	3	2	2	0
chr6	31412383	31412384	TG	0	exonic;splicing	MICA;MICA	NM_000247:exon6:r.spl	.	.	.	653	335	270	56	208	590	0.363118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	451.11	23	chr6	31412383	.	TG	*	451.11	.	AC=3;AF=0.214;AN=14;BaseQRankSum=0.954;DP=260;ExcessHet=1.4958;FS=6.272;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=3.7;ReadPosRankSum=-1.021;SOR=0.341	GT:AD:DP:GQ:PL	0/1:18,19:37:99:745,0,698	4	0	3	0
chr6	31412384	31412384	G	0	exonic;splicing	MICA;MICA	NM_000247:exon6:c.949-1G>0	.	.	.	0	10	88	27	101	243	0.876543	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	4534.51	23	chr6	31412384	.	G	*	4534.51	.	AC=6;AF=0.429;AN=14;DP=257;ExcessHet=0;FS=0;MLEAC=4;MLEAF=0.286;MQ=60;QD=27.99;SOR=2.147	GT:AD:DP:GQ:PL	0/1:0,19:37:99:1738,770,697	2	1	4	0
chr6	32008636	32008636	C	T	exonic	TNXB	.	unknown	UNKNOWN	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1424220378	3.167e-05	2.435e-05	4.341e-05	2.055e-05	0.0007	2.168e-05	1.904e-05	0.0005	0.0004	0	0	0	0.0007	0	0	5.146e-06	0	0	1.647e-05	1.361e-05	1.603e-05	1.694e-05	0.0005	2.74e-06	1.02e-06	8.14e-05	3.407e-05	0	0	0	0	0.0005	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	.	.	.	.	.	.	.	.	0.1667	673.36	29	chr6	32008636	.	C	T	673.36	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.152;DP=116;ExcessHet=0;FS=6.021;MLEAC=2;MLEAF=0.167;MQ=35.89;MQRankSum=1.08;QD=28.06;ReadPosRankSum=1.59;SOR=2.33	GT:AD:DP:GQ:PL	1/1:1,23:24:40:692,40,0	5	1	0	1
chr6	32039118	32039118	C	T	exonic	CYP21A2	.	nonsynonymous SNV	CYP21A2:NM_001128590:exon2:c.C227T:p.P76L,CYP21A2:NM_000500:exon3:c.C317T:p.P106L	Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, Autosomal recessive;Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	27197	.	.	no_classification_for_the_single_variant	no_classification_for_the_single_variant	.	.	no_classification_for_the_single_variant	no_classification_for_the_single_variant	.	.	no_classification_for_the_single_variant	no_classification_for_the_single_variant	0.166	0.125585124913	.	0.000599042	0.0001	0.0001	0.0001	0	0.0002	9.369e-05	0	0.0002	8.41e-05	13	154602	rs550051210	2.332e-05	2.531e-05	2.045e-05	2.621e-05	0.0002	1.678e-05	1.481e-05	7.325e-05	5.189e-05	0	0.0002	0	0	1.889e-05	0	2.071e-05	3.318e-05	1.17e-05	5.26e-05	5.25e-05	5.145e-05	5.38e-05	0.0004	2.558e-05	1.831e-05	7.315e-05	3.038e-05	4.818e-05	0	0.0002	0	0	0	0	1.472e-05	0	0.0004	0.078	0.42199	T	0.111	0.37173	T	0.012	0.16265	B	0.01	0.14941	B	0.529754	0.11652	N	0.704704	1	0.08975	N	.	.	.	-0.27	0.78967	T	-0.59	0.31375	N	0.145	0.14905	-1.0156	0.25143	T	0.062	0.25887	T	10	0.22942439	0.39870	T	0.125585	0.80712	D	0.166	0.42578	0.831	0.94042	0.903605074516	0.90264	0.348101854316612	0.34724	0.478852830938	0.46947	0.330982327461	0.15082	T	0.015004	0.12667	T	-0.254892	0.13505	T	-0.319197	0.42664	T	0.0128835517685919	0.00221	T	0.761424	0.62800	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.38099	B	.;.;.;.;.;.	.;.;.;.;.;.	0.544463	0.09130	5.913	0.70471528318185861	0.09307	0.01802	0.05623	N	AEFBI	0.150815	0.27518	N	-1.09923804138352	0.06658	0.3071024	-1.0539503352821	0.08625	0.4249804	1.78913668649346E-4	0.05786	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.562822	0.20929	0	.	.	4.63	2.46	0.29032	-0.319000	0.08080	.	.	0.585000	0.30472	0.000000	0.06391	0.000000	0.08366	0.042000	0.14466	0.53:0.307:0.0:0.163	4.060	0.09315	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	.	.	.	.	.	.	.	.	0.1429	1103.44	35	chr6	32039118	.	C	T	1103.44	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.32;DP=268;ExcessHet=0.3476;FS=4.852;MLEAC=2;MLEAF=0.143;MQ=59.96;MQRankSum=0.772;QD=10.41;ReadPosRankSum=-0.881;SOR=0.544	GT:AD:DP:GQ:PL	0/1:37,20:57:99:508,0,1483	5	0	2	0
chr6	32221088	32221088	C	T	exonic	NOTCH4	.	nonsynonymous SNV	NOTCH4:NM_004557:exon4:c.G689A:p.R230H	.	409	1106	6	1	0	8	0.0036036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.00279252570372	0.0001	.	0.0007	0.0001	0.0004	0	0	0.0003	0.0011	0.0038	0.0005563	86	154602	rs138205668	0.0004	0.0004	0.0003	0.0005	0.0035	0.0004	0.0004	0.0032	0.0030	2.987e-05	0.0004	0.0007	0	3.814e-05	0.0028	0.0002	0.0005	0.0035	0.0003	0.0003	0.0003	0.0003	0.0021	0.0002	0.0002	0.0011	0.0009	2.406e-05	0	0.0005	0.0006	0	0	0.0034	0.0003	0.0005	0.0021	0.257	0.16738	T	0.923	0.02845	T	0.005	0.12996	B	0.011	0.15521	B	0.142289	0.02895	N	1.783410	0.999995	0.08975	N	0.115	0.08564	N	2.98	0.09356	T	2.48	0.00239	N	0.03	0.00717	-1.0040	0.28755	T	0.004	0.01295	T	10	0.008886576	0.00201	T	0.002793	0.05810	T	0.016	0.02506	.	.	0.173771789658	0.16945	0.509803062364085	0.50902	0.224634892751	0.24998	0.288910537958	0.08764	T	0.014435	0.12290	T	-0.734069	0.00022	T	-0.83058	0.01252	T	0.0112271084685426	0.00165	T	0.19678	0.02180	T	0.018827112	0.00406	0.018693822	0.00063	0.018827112	0.00406	0.018693822	0.00063	-4.671	0.33051	T	.	.	0.065	0.01934	B	.	.	-1.465154	0.00316	0.005	0.67195355447810234	0.08282	0.00581	0.02619	N	AEFDBI	0.051110	0.08997	N	-1.85203874753801	0.00430	0.01849213	-1.9683629001945	0.00356	0.01574692	0.999993728399593	0.74766	0.562547	0.31514	0	0.59043	0.45803	0	0.547309	0.15389	0	0.635551	0.53088	0	.	.	4.74	-9.48	0.00498	-1.012000	0.03759	.	.	-0.254000	0.07082	0.001000	0.13787	0.000000	0.08366	0.664000	0.33081	0.077:0.0948:0.1539:0.6743	7.319	0.25691	934	0.15400	EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002179	0.000000	0.004076	0.000000	0.000000	0.000000	0.003049	0.000000	0.1429	1771.34	48	chr6	32221088	.	C	T	1771.34	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.961;DP=310;ExcessHet=0.3476;FS=5.042;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=12.56;ReadPosRankSum=-0.362;SOR=1.004	GT:AD:DP:GQ:PL	0/1:44,49:93:99:1233,0,1016	5	0	2	0
chr6	32522104	32522104	G	0	exonic	HLA-DRB5	.	.	.	.	223	868	2	0	429	431	0.00115075	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	4438.32	8	chr6	32522104	.	G	*	4438.32	.	AC=6;AF=0.429;AN=14;BaseQRankSum=5.79;DP=301;ExcessHet=2.5225;FS=31.069;MLEAC=6;MLEAF=0.429;MQ=43.88;MQRankSum=3.24;QD=15.1;ReadPosRankSum=4.12;SOR=0.575	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:10,20:30:99:0|1:32522075_A_G:810,0,360:32522075	3	2	2	0
chr6	32522156	32522156	T	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	13412.6	23	chr6	32522156	.	T	*	13412.6	.	AC=6;AF=0.429;AN=14;DP=399;ExcessHet=0;FS=0;MLEAC=6;MLEAF=0.429;MQ=46.61;QD=33.7;SOR=1.193	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,10:34:99:0|1:32522156_T_*:1428,1008,978:32522156	1	0	6	0
chr6	32522157	32522157	C	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	4902.46	23	chr6	32522157	.	C	*	4902.46	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-1.194;DP=394;ExcessHet=0;FS=5.589;MLEAC=5;MLEAF=0.417;MQ=47.07;MQRankSum=-5.386;QD=21.6;ReadPosRankSum=1.74;SOR=0.391	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,10:34:99:0|1:32522156_T_*:1428,1008,978:32522156	1	0	5	1
chr6	32522159	32522159	T	0	exonic	HLA-DRB5	.	.	.	.	220	823	360	108	11	587	0.259226	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	4902.47	23	chr6	32522159	.	T	*	4902.47	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-1.23;DP=395;ExcessHet=0;FS=6.757;MLEAC=5;MLEAF=0.417;MQ=47.01;MQRankSum=-5.49;QD=21.6;ReadPosRankSum=1.92;SOR=0.366	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,10:34:99:0|1:32522156_T_*:1470,1011,978:32522156	1	0	5	1
chr6	32530184	32530184	T	0	exonic	HLA-DRB5	.	.	.	.	81	232	140	96	973	1305	0.417085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	7710.75	37	chr6	32530184	.	T	*	7710.75	.	AC=10;AF=0.714;AN=14;DP=439;ExcessHet=0;FS=0;MLEAC=10;MLEAF=0.714;MQ=54.98;QD=19.04;SOR=1.278	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,46:46:99:1|1:32530183_CTT_C:1994,138,0:32530183	2	5	0	0
chr6	32530185	32530185	T	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	9221.64	37	chr6	32530185	.	T	*	9221.64	.	AC=9;AF=0.643;AN=14;DP=432;ExcessHet=0;FS=0;MLEAC=9;MLEAF=0.643;MQ=55.12;QD=23.05;SOR=1.31	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,46:46:99:1|1:32530183_CTT_C:1994,138,0:32530183	2	4	1	0
chr6	32584177	32584178	CG	0	exonic	HLA-DRB1	.	.	.	.	55	575	391	86	415	978	0.328663	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	15396.9	93	chr6	32584177	.	CG	*	15396.9	.	AC=10;AF=0.714;AN=14;DP=815;ExcessHet=0;FS=0;MLEAC=10;MLEAF=0.714;MQ=54.19;QD=20;SOR=1.274	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,124:124:99:1|1:32584176_CCG_C:5558,373,0:32584176	1	4	2	0
chr6	32584178	32584178	G	0	exonic	HLA-DRB1	.	.	.	.	53	515	203	35	716	989	0.209517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9286	490.48	93	chr6	32584178	.	G	*	490.48	.	AC=13;AF=0.929;AN=14;DP=815;ExcessHet=0;FS=0;MLEAC=13;MLEAF=0.929;MQ=53.91;QD=0.65;SOR=1.263	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,124:124:99:1|1:32584176_CCG_C:5558,373,0:32584176	0	6	1	0
chr6	32584370	32584370	G	0	exonic	HLA-DRB1	.	.	.	.	164	387	826	46	99	1017	0.542553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	24561.1	243	chr6	32584370	.	G	*	24561.1	.	AC=6;AF=0.429;AN=14;BaseQRankSum=5.49;DP=1443;ExcessHet=0.3476;FS=0;MLEAC=6;MLEAF=0.429;MQ=51.3;MQRankSum=-1.108;QD=17.24;ReadPosRankSum=5.06;SOR=1.523	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,220:334:99:0|1:32584279_A_G:14205,4799,4125:32584279	1	0	6	0
chr6	32641444	32641444	G	0	exonic	HLA-DQA1	.	.	.	.	476	488	96	33	429	591	0.142355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	2613.32	74	chr6	32641444	.	G	*	2613.32	.	AC=7;AF=0.5;AN=14;BaseQRankSum=0.712;DP=808;ExcessHet=2.5225;FS=20.088;MLEAC=7;MLEAF=0.5;MQ=50.87;MQRankSum=-1.068;QD=3.23;ReadPosRankSum=-0.792;SOR=1.271	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:171,54:225:99:0|1:32641430_C_T:1753,0,7018:32641430	2	2	3	0
chr6	32641445	32641445	A	0	exonic	HLA-DQA1	.	.	.	.	478	485	97	33	429	592	0.143866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	2700.32	74	chr6	32641445	.	A	*	2700.32	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-0.18;DP=810;ExcessHet=2.5225;FS=19.739;MLEAC=7;MLEAF=0.5;MQ=51.17;MQRankSum=-0.887;QD=3.33;ReadPosRankSum=-0.792;SOR=1.247	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:171,54:225:99:0|1:32641430_C_T:1753,0,7018:32641430	2	2	3	0
chr6	32641462	32641462	G	0	exonic	HLA-DQA1	.	.	.	.	480	493	54	16	479	565	0.0802239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	907.51	68	chr6	32641462	.	G	*	907.51	.	AC=9;AF=0.643;AN=14;DP=833;ExcessHet=2.5225;FS=10.673;MLEAC=9;MLEAF=0.643;MQ=53.04;QD=1.1;SOR=0.935	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:179,58:237:99:0|1:32641430_C_T:1897,0,7260:32641430	0	2	5	0
chr6	32641464	32641464	T	0	exonic	HLA-DQA1	.	.	.	.	475	499	54	15	479	563	0.077634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	910.51	68	chr6	32641464	.	T	*	910.51	.	AC=9;AF=0.643;AN=14;DP=836;ExcessHet=2.5225;FS=9.491;MLEAC=9;MLEAF=0.643;MQ=53.75;QD=1.11;SOR=0.927	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:179,58:237:99:0|1:32641430_C_T:1897,0,7260:32641430	0	2	5	0
chr6	32641501	32641501	G	0	exonic	HLA-DQA1	.	.	.	.	496	603	6	2	415	425	0.00822368	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	5139.46	58	chr6	32641501	.	G	*	5139.46	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-0.15;DP=864;ExcessHet=2.5225;FS=1.787;MLEAC=7;MLEAF=0.5;MQ=57.9;MQRankSum=0;QD=5.95;ReadPosRankSum=-0.19;SOR=0.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:209,50:259:99:0|1:32641487_G_C:1470,0,8625:32641487	2	2	3	0
chr6	32641522	32641522	A	0	exonic	HLA-DQA1	.	.	.	.	497	607	54	19	345	437	0.0704441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	4857.75	64	chr6	32641522	.	A	*	4857.75	.	AC=7;AF=0.5;AN=14;BaseQRankSum=0;DP=915;ExcessHet=2.5225;FS=6.106;MLEAC=7;MLEAF=0.5;MQ=58.2;MQRankSum=0;QD=5.32;ReadPosRankSum=1.36;SOR=1.094	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:218,50:268:99:0|1:32641487_G_C:1275,0,8979:32641487	2	2	3	0
chr6	33315817	33315817	G	A	exonic	ZBTB22	.	nonsynonymous SNV	ZBTB22:NM_001145338:exon2:c.C1100T:p.P367L,ZBTB22:NM_005453:exon2:c.C1100T:p.P367L	.	417	1098	7	0	0	7	0.00317749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.0165891258494	0.0002	0.000998403	0.0007	9.615e-05	0.0002	0.0024	0	0.0005	0	0.0017	0.0006339	98	154602	rs144433957	0.0004	0.0004	0.0004	0.0005	0.0024	0.0004	0.0004	0.0015	0.0014	0.0001	0.0002	0.0037	0.0019	0	0.0024	0.0002	0.0007	0.0017	0.0003	0.0003	0.0003	0.0002	0.0019	0.0002	0.0002	0.0010	0.0007	0	0	0.0001	0.0020	0.0012	0	0.0034	0.0002	0.0009	0.0019	0.17	0.22833	T	0.377	0.16134	T	0.9	0.49598	P	0.22	0.37792	B	0.005015	0.33181	N	0.000000	0.998722	0.45339	D	0.805	0.20218	L	3.49	0.05071	T	-0.19	0.09965	N	0.134	0.13198	-0.7096	0.59972	T	0.006	0.01870	T	10	0.00542295	0.00119	T	0.016589	0.37919	T	0.085	0.24743	.	.	0.44318313171	0.43938	0.3568708772449162	0.35601	0.634268845006	0.57287	0.681673705578	0.64509	T	0.006876	0.06306	T	-0.467899	0.00876	T	-0.450739	0.27616	T	0.0370227934690009	0.03159	T	0.780822	0.41560	T	0.15056697	0.34271	0.21324982	0.45827	0.15056697	0.34270	0.21324982	0.45827	-3.056	0.10798	T	.	.	0.178	0.38782	B	.;.	.;.	2.784147	0.36579	20.3	0.81510298013693272	0.13721	0.69865	0.34358	D	AEFBCI	0.247420	0.36800	N	0.0393857772258344	0.43655	2.654243	0.101876411518386	0.44643	2.742195	0.999995624337189	0.74766	0.542737	0.22433	0	0.685571	0.66316	0	0.26897	0.05253	2	0.636168	0.56350	0	.	.	4.09	4.09	0.47038	2.641000	0.46254	7.439000	0.58857	0.665000	0.62972	0.996000	0.39380	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	13.851	0.62994	616	0.66398	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002179	0.000000	0.004076	0.000000	0.000000	0.000000	0.003049	0.000000	0.1429	2292.26	35	chr6	33315817	.	G	A	2292.26	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.7;DP=352;ExcessHet=0.3476;FS=5.006;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=11.76;ReadPosRankSum=-0.246;SOR=0.858	GT:AD:DP:GQ:PL	0/1:54,45:99:99:1142,0,1282	5	0	2	0
chr6	33405054	33405054	T	C	exonic	KIFC1	.	nonsynonymous SNV	KIFC1:NM_002263:exon7:c.T959C:p.V320A	.	402	1105	13	2	0	17	0.00763359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.00316937780823	0.0002	0.00199681	0.0010	9.649e-05	0.0006	0.0028	0	0.0007	0	0.0029	0.0009832	152	154602	rs149106445	0.0006	0.0006	0.0005	0.0007	0.0047	0.0006	0.0005	0.0033	0.0028	0.0001	0.0005	0.0038	0.0021	0	0.0047	0.0003	0.0011	0.0027	0.0004	0.0004	0.0004	0.0004	0.0031	0.0004	0.0003	0.0019	0.0015	4.81e-05	0	0.0004	0.0026	0.0014	0	0.0102	0.0003	0.0014	0.0031	0.13	0.26740	T	0.176	0.29843	T	0.016	0.17332	B	0.015	0.17295	B	0.016577	0.27944	N	0.371861	0.948109	0.37596	D	0.365	0.12025	N	1.0	0.41392	T	-1.82	0.42763	N	0.12	0.11054	-1.0574	0.12414	T	0.022	0.09330	T	10	0.008636802	0.00196	T	0.003169	0.06936	T	0.080	0.23350	.	.	0.504541157375	0.50091	0.4630334206756604	0.46222	0.481891860051	0.47163	0.637899279594	0.58265	T	0.036619	0.24171	T	-0.522888	0.00423	T	-0.528172	0.19469	T	0.00617480142371303	0.00068	T	.	.	.	0.103075996	0.24361	0.10514459	0.25270	0.103075996	0.24361	0.10514459	0.25269	-4.085	0.25068	T	.	.	0.097	0.15966	B	.	.	2.926918	0.38873	20.8	0.98247475137208662	0.39539	0.70780	0.34733	D	AEFDBCI	0.093667	0.18950	N	-0.314474572505403	0.28597	1.578677	-0.101325459073743	0.35337	2.043223	0.999978134242809	0.50053	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.43	4.26	0.49832	1.547000	0.35798	3.989000	0.40972	0.665000	0.62972	0.496000	0.26925	1.000000	0.68203	0.994000	0.71098	0.0:0.1839:0.0:0.8161	5.338	0.15274	366	0.84579	Kinesin motor domain|Kinesin motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002723	0.000000	0.004076	0.000000	0.000000	0.000000	0.003049	0.000000	0.1429	3613.25	34	chr6	33405054	.	T	C	3613.25	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.85;DP=454;ExcessHet=0.3476;FS=0.858;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=11.66;ReadPosRankSum=0.412;SOR=0.751	GT:AD:DP:GQ:PL	0/1:83,78:161:99:1750,0,2263	5	0	2	0
chr6	34871686	34871686	A	G	exonic	UHRF1BP1	.	nonsynonymous SNV	UHRF1BP1:NM_017754:exon19:c.A4084G:p.I1362V	.	430	1076	16	0	0	16	0.00738007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	.	0.0065	0.00479233	0.0071	0.0011	0.0090	0.0007	0.0060	0.0085	0.0157	0.0064	0.0068175	1054	154602	rs147415559	0.0075	0.0075	0.0073	0.0077	0.0146	0.0074	0.0073	0.0121	0.0111	0.0014	0.0089	0.0133	0.0003	0.0065	0.0146	0.0078	0.0079	0.0071	0.0063	0.0064	0.0063	0.0063	0.0090	0.0060	0.0059	0.0078	0.0076	0.0012	0.0286	0.0090	0.0135	0.0002	0.0063	0.0238	0.0084	0.0114	0.0068	0.107	0.29554	T	0.306	0.19972	T	0.0	0.02946	B	0.002	0.06944	B	0.013352	0.28869	N	0.388740	0.999976	0.19072	N	1.895	0.50365	L	2.93	0.10386	T	-0.54	0.17210	N	0.135	0.26111	-0.9540	0.40274	T	0.005	0.01833	T	10	0.0040123165	0.00078	T	.	.	.	0.038	0.09825	.	.	0.166414681773	0.16258	0.3526776110218733	0.35181	0.107623241374	0.12144	0.248244732618	0.03585	T	0.014213	0.12144	T	-0.606782	0.00132	T	-0.63798	0.09816	T	0.00257089722774354	0.00027	T	0.606339	0.22814	T	0.021554956	0.00765	0.030293586	0.01466	0.021554956	0.00765	0.030293586	0.01466	-3.97	0.23353	T	.	.	0.086	0.10691	B	.;.	.;.	0.412397	0.07833	4.527	0.9730147765059125	0.33280	0.19127	0.20538	N	AEFBI	0.088701	0.17982	N	-0.7715972624988	0.14053	0.6970028	-0.715032602805248	0.16587	0.8781495	0.131536229338027	0.17100	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	6.08	-3.13	0.04944	-0.455000	0.06837	-0.094000	0.12022	-0.053000	0.16966	0.000000	0.06391	0.000000	0.08366	0.991000	0.66497	0.3455:0.3991:0.061:0.1944	4.156	0.09727	290	0.88477	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.015106	0.030303	0.017663	0.017544	0.000000	0.008621	0.012195	0.007576	0.1429	2399.24	39	chr6	34871686	.	A	G	2399.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.554;DP=402;ExcessHet=0.3476;FS=1.565;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=10;ReadPosRankSum=-0.78;SOR=0.804	GT:AD:DP:GQ:PL	0/1:68,45:113:99:973,0,1609	5	0	2	0
chr6	35835473	35835473	A	G	exonic	SRPK1	.	nonsynonymous SNV	SRPK1:NM_003137:exon16:c.T1799C:p.I600T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.690	0.121324620915	.	0.000199681	9.209e-06	0	0	0	0	0	0	7.003e-05	1.29e-05	2	154602	rs539500451	4.793e-06	6.156e-06	4.087e-06	5.507e-06	5.977e-05	1.99e-06	1.28e-06	9.9e-06	3.7e-06	5.977e-05	0	0	0	0	0	4.499e-06	0	0	6.567e-06	6.562e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.998	0.88582	D	.	.	.	.	1	0.81001	D	2.515	0.73286	M	2.1	0.19990	T	-4.66	0.79482	D	0.718	0.81459	-1.0263	0.21658	T	0.094	0.35684	T	9	0.81816316	0.81039	D	0.121325	0.80206	D	0.690	0.88726	0.723	0.85761	0.680966952415	0.67825	0.701705663803384	0.70111	1.05219851348	0.76191	0.912048220634	0.97661	D	0.187979	0.54175	T	0.26527	0.80014	D	0.143266	0.79755	D	0.904688659125056	0.55822	D	0.986801	0.95481	D	0.78970605	0.83254	0.7955776	0.87993	0.78970605	0.83256	0.7955776	0.87994	-13.134	0.90090	D	.	.	1.000	0.99219	P	.;.;.	.;.;.	5.093250	0.85064	28.5	0.99678913926992063	0.79108	0.99167	0.92217	D	AEFBI	0.899675	0.84433	D	0.809544352620506	0.86699	8.970198	0.795664345187415	0.89489	9.996534	0.999999999999478	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.49	5.49	0.81022	9.321000	0.95528	11.251000	0.90746	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	1.0:0.0:0.0:0.0	15.583	0.76198	485	0.77085	Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	1420.04	38	chr6	35835473	.	A	G	1420.04	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.195;DP=306;ExcessHet=0.3476;FS=0.693;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=0.835;SOR=0.797	GT:AD:DP:GQ:PL	0/1:22,27:49:99:699,0,549	5	0	2	0
chr6	39310980	39310980	C	T	exonic	KCNK17	.	nonsynonymous SNV	KCNK17:NM_001135111:exon2:c.G265A:p.A89T,KCNK17:NM_031460:exon2:c.G265A:p.A89T	.	433	1079	10	0	0	10	0.00461255	.	.	.	2823003	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.058	0.00538159359875	0.0008	0.00159744	0.0011	9.639e-05	0.0005	0	0.0003	0.0012	0	0.0032	0.0010867	168	154602	rs143146161	0.0010	0.0010	0.0009	0.0011	0.0056	0.0010	0.0009	0.0040	0.0035	0.0002	0.0005	0	0	0.0001	0.0056	0.0009	0.0008	0.0034	0.0009	0.0009	0.0009	0.0008	0.0027	0.0007	0.0007	0.0016	0.0013	0.0002	0	0.0015	0	0	0.0003	0	0.0012	0.0024	0.0027	0.251	0.27194	T	0.138	0.41239	T	0.009	0.15093	B	0.021	0.19346	B	0.494553	0.12019	N	0.718395	1	0.08975	N	-0.155	0.04359	N	2.31	0.16794	T	0.13	0.05503	N	0.077	0.05162	-0.9417	0.42346	T	0.008	0.02638	T	10	0.00647521	0.00147	T	0.005382	0.13801	T	0.058	0.16647	.	.	0.253726318573	0.24972	0.36932081505905584	0.36846	0.212328705476	0.23733	0.270790725946	0.06244	T	0.010447	0.09434	T	-0.721011	0.00027	T	-0.812762	0.01604	T	0.00312089726623152	0.00033	T	0.659934	0.26896	T	0.043178026	0.06682	0.049226243	0.07479	0.043178026	0.06682	0.049226243	0.07478	-3.619	0.27155	T	0.11920041416129093	0.11079	0.068	0.06433	B	.;.	.;.	0.546904	0.09157	5.938	0.95790334705674085	0.27828	0.03312	0.08375	N	AEFDBCI	0.060169	0.11417	N	-1.00257577590257	0.08550	0.4013161	-1.0111631506793	0.09539	0.4751674	0.0183516225765985	0.13049	0.676563	0.55306	0	0.59043	0.45803	0	0.673471	0.61138	0	0.542086	0.14980	0	.	.	5.42	-1.41	0.08473	-1.064000	0.03572	-0.638000	0.08091	0.589000	0.31548	0.000000	0.06391	0.000000	0.08366	0.500000	0.29017	0.2717:0.2985:0.0:0.4298	3.789	0.08233	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	1	0	1	0	0.002518	0.000000	0.002717	0.000000	0.000000	0.008621	0.000000	0.011364	0.1429	2548.44	42	chr6	39310980	.	C	T	2548.44	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.44;DP=355;ExcessHet=0.3476;FS=0.515;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=12.43;ReadPosRankSum=0.183;SOR=0.744	GT:AD:DP:GQ:PL	0/1:37,52:89:99:1251,0,1249	5	0	2	0
chr6	43206209	43206209	G	A	exonic	CUL9	.	nonsynonymous SNV	CUL9:NM_015089:exon25:c.G4996A:p.E1666K	.	9	1512	1	0	0	1	0.000330579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.295	0.0274959153825	.	.	1.807e-05	0	0	0	0	3.294e-05	0	0	1.29e-05	2	154602	rs759376276	9.591e-06	9.577e-06	1.227e-05	6.886e-06	2.989e-05	5.57e-06	4.35e-06	5.31e-06	3.88e-06	2.989e-05	2.264e-05	0	0	0	0	9.9e-06	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.68238	D	0.181	0.29346	T	0.324	0.33106	B	0.224	0.37970	B	0.003827	0.34438	N	0.322722	0.570149	0.37328	D	2.645	0.77386	M	-0.87	0.74583	T	-1.58	0.38151	N	0.268	0.35088	-0.3014	0.74946	T	0.284	0.65557	T	10	0.2113865	0.37564	T	0.027496	0.50302	D	0.295	0.61502	0.394	0.41935	0.567972730129	0.56463	0.4679743852148886	0.46716	0.374976833314	0.38952	0.388636350632	0.23478	T	0.294735	0.66742	T	0.0283461	0.55502	T	-0.176788	0.56820	T	0.721795499324799	0.41790	D	0.826617	0.49005	T	0.15595017	0.35218	0.15854922	0.37021	0.15595017	0.35218	0.15854922	0.37020	-5.421	0.41121	T	.	.	0.086	0.10787	B	.;.	.;.	2.803045	0.36877	20.4	0.99858402013327119	0.93729	0.93084	0.57286	D	AEFBI	0.232162	0.35528	N	0.262323761666127	0.54252	3.591167	0.330192840312283	0.57320	3.89742	0.999994454205537	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.616094	0.41390	0	0.635551	0.53088	0	.	.	5.23	5.23	0.72570	3.177000	0.50572	8.644000	0.77906	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.718000	0.34707	0.0:0.0:1.0:0.0	18.790	0.91935	364	0.84707	Cullin, N-terminal|Cullin homology domain;Cullin, N-terminal|Cullin 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	.	.	.	.	.	.	.	.	0.07143	535.53	20	chr6	43206209	.	G	A	535.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.648;DP=221;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.64;ReadPosRankSum=0.829;SOR=0.693	GT:AD:DP:GQ:PL	0/1:42,20:62:99:546,0,1186	6	0	1	0
chr6	43501620	43501620	G	A	exonic	TJAP1	.	nonsynonymous SNV	TJAP1:NM_001146017:exon5:c.G223A:p.D75N,TJAP1:NM_001146020:exon5:c.G223A:p.D75N,TJAP1:NM_001350564:exon5:c.G223A:p.D75N,TJAP1:NM_001350566:exon5:c.G223A:p.D75N,TJAP1:NM_001350568:exon5:c.G223A:p.D75N,TJAP1:NM_001146016:exon6:c.G223A:p.D75N,TJAP1:NM_001146019:exon6:c.G223A:p.D75N,TJAP1:NM_001350562:exon6:c.G223A:p.D75N,TJAP1:NM_001350563:exon6:c.G223A:p.D75N,TJAP1:NM_001350565:exon6:c.G223A:p.D75N,TJAP1:NM_001350567:exon6:c.G223A:p.D75N,TJAP1:NM_001350569:exon6:c.G223A:p.D75N,TJAP1:NM_080604:exon6:c.G223A:p.D75N,TJAP1:NM_001146018:exon7:c.G223A:p.D75N,TJAP1:NM_001350561:exon7:c.G223A:p.D75N,TJAP1:NM_001350570:exon7:c.G223A:p.D75N	.	430	1072	17	3	0	23	0.0106138	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.157	.	0.0060	0.00299521	0.0064	0.0015	0.0058	0	0.0112	0.0080	0.0101	0.0050	0.0061772	955	154602	rs146174516	0.0065	0.0065	0.0064	0.0066	0.0093	0.0064	0.0063	0.0073	0.0066	0.0013	0.0053	0.0157	2.52e-05	0.0099	0.0093	0.0066	0.0069	0.0056	0.0058	0.0058	0.0057	0.0059	0.0080	0.0054	0.0053	0.0075	0.0072	0.0013	0	0.0051	0.0150	0	0.0107	0.0068	0.0080	0.0043	0.0048	0.079	0.51853	T	0.539	0.11041	T	0.986	0.61523	D	0.84	0.60170	P	0.001836	0.37892	N	0.260277	0.922746	0.36726	D	1.355	0.33814	L	-1.21	0.78645	T	-0.07	0.11913	N	0.649	0.67304	-0.8013	0.55068	T	0.194	0.54681	T	10	0.0064109266	0.00145	T	.	.	.	0.283	0.60100	.	.	0.84447348625	0.84298	0.14216253384610422	0.14139	0.563213150992	0.52764	0.744480013847	0.73632	T	0.045408	0.27114	T	-0.437271	0.01342	T	-0.393637	0.34127	T	0.0270910500318395	0.01557	T	0.929107	0.73907	D	0.10933551	0.25849	0.09088635	0.21339	0.10933551	0.25849	0.09088635	0.21339	-9.229	0.71145	D	.	.	0.265	0.55916	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.879583	0.80008	27.2	0.998856845130766	0.96126	0.99095	0.91152	D	AEFDBI	0.695007	0.65382	D	0.331883087932109	0.57792	3.948008	0.39220626317631	0.61083	4.303665	0.999999087670254	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.85	4.85	0.62375	5.603000	0.67304	7.361000	0.58346	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	16.225	0.82105	227	0.91186	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008560	0.020202	0.012228	0.002924	0.000000	0.000000	0.012195	0.000000	0.07143	1141.44	34	chr6	43501620	.	G	A	1141.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.842;DP=288;ExcessHet=0;FS=0.72;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.98;ReadPosRankSum=-0.01;SOR=0.773	GT:AD:DP:GQ:PL	0/1:53,51:104:99:1152,0,1335	6	0	1	0
chr6	44229406	44229406	C	T	exonic	SLC29A1	.	nonsynonymous SNV	SLC29A1:NM_001304465:exon3:c.C124T:p.L42F,SLC29A1:NM_001304466:exon3:c.C121T:p.L41F,SLC29A1:NM_001372327:exon3:c.C46T:p.L16F,SLC29A1:NM_001078175:exon4:c.C46T:p.L16F,SLC29A1:NM_001078177:exon4:c.C46T:p.L16F,SLC29A1:NM_001304462:exon4:c.C283T:p.L95F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.199	0.0270842663741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	0.20835	T	0.239	0.24477	T	0.722	0.42387	P	0.21	0.37304	B	0.000291	0.46274	D	0.141721	0.992018	0.41532	D	1.12	0.28775	L	-0.64	0.72125	T	-1.54	0.37375	N	0.57	0.59563	-0.8125	0.54399	T	0.190	0.54108	T	10	0.2805399	0.45630	T	0.027084	0.49938	D	0.199	0.48268	.	.	0.289027227714	0.28505	.	.	0.314550106018	0.33734	0.57654607296	0.49599	T	0.247412	0.61705	T	-0.0159197	0.49434	T	-0.260644	0.48761	T	0.780354142189026	0.45072	D	0.80002	0.44873	T	0.25879025	0.48930	0.16195175	0.37644	0.25879025	0.48930	0.16195175	0.37643	-6.311	0.48809	T	0.2968931265094968	0.39397	0.101	0.35477	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.476885	0.48538	22.6	0.99733818646622996	0.82975	0.86155	0.45383	D	AEFBI	0.483729	0.52405	N	0.104427770763267	0.46670	2.903757	0.164691005738116	0.47925	3.015602	0.999980561748904	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.34	4.45	0.53365	1.246000	0.32405	1.800000	0.28874	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1479:0.7746:0.0:0.0775	8.891	0.34594	794	0.45591	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4167	261.05	56	chr6	44229406	.	C	T	261.05	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-2.601;DP=506;ExcessHet=6.1542;FS=331.328;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=0.67;ReadPosRankSum=0.67;SOR=8.138	GT:AD:DP:GQ:PL	0/1:57,19:76:30:30,0,1036	1	0	5	1
chr6	44229912	44229912	C	T	exonic	SLC29A1	.	nonsynonymous SNV	SLC29A1:NM_001304465:exon5:c.C398T:p.P133L,SLC29A1:NM_001304466:exon5:c.C395T:p.P132L,SLC29A1:NM_001372327:exon5:c.C320T:p.P107L,SLC29A1:NM_001078175:exon6:c.C320T:p.P107L,SLC29A1:NM_001078177:exon6:c.C320T:p.P107L,SLC29A1:NM_001304462:exon6:c.C557T:p.P186L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.597	0.142466590804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.006	0.70582	D	0.954	0.54400	P	0.548	0.49136	P	0.000006	0.62929	D	0.111619	0.999999	0.58761	D	2.77	0.80896	M	-1.45	0.80899	T	-4.12	0.75058	D	0.594	0.62273	0.338	0.88157	D	0.626	0.86862	D	10	0.84711623	0.83879	D	0.142467	0.82485	D	0.597	0.84019	.	.	0.5677965709	0.56444	.	.	0.621881511677	0.56471	0.499117910862	0.38704	T	0.618786	0.88021	D	0.137672	0.68103	D	-0.0400197	0.67700	D	0.986289262771606	0.77042	D	0.974802	0.91047	D	0.37740412	0.59128	0.29288265	0.55316	0.37740412	0.59128	0.29288265	0.55315	-8.857	0.66771	D	0.7226939578687511	0.80388	0.195	0.46470	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	4.942726	0.81587	27.6	0.9984483448626742	0.92489	0.98720	0.85993	D	AEFBI	0.945080	0.95294	D	0.660674630883975	0.77061	6.602799	0.611913254807427	0.75802	6.37577	0.99999999997349	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.62	5.62	0.85714	7.253000	0.77742	7.702000	0.66341	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.642000	0.32476	0.0:0.8595:0.1405:0.0	15.178	0.72611	789	0.46346	.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	670.27	35	chr6	44229912	.	C	T	670.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.117;DP=237;ExcessHet=0;FS=1.174;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.89;ReadPosRankSum=-0.409;SOR=0.483	GT:AD:DP:GQ:PL	0/1:23,22:45:99:680,0,684	5	0	1	1
chr6	52403967	52403967	A	G	exonic	PAQR8	.	nonsynonymous SNV	PAQR8:NM_133367:exon2:c.A754G:p.I252V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00527960526329	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.978e-05	0.0024	1.833e-05	2.124e-05	2.524e-05	1.372e-05	1.181e-05	1.728e-05	1.481e-05	0	2.239e-05	0	0	0	0	2.524e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.006	0.13644	B	0.041	0.23986	B	0.000025	0.55875	D	0.115163	0.999832	0.49637	D	.	.	.	1.69	0.27032	T	0.18	0.05035	N	0.134	0.13055	-1.0252	0.22017	T	0.018	0.07518	T	9	0.10744271	0.19958	T	0.00528	0.13494	T	0.060	0.17295	0.488	0.57257	0.376393476264	0.37247	0.3401186203858187	0.33924	0.3389385424	0.35853	0.68097782135	0.64409	T	0.052677	0.29229	T	-0.214048	0.18812	T	-0.545242	0.17786	T	0.904308378696442	0.55774	D	0.813919	0.46746	T	0.07455341	0.16739	0.0980514	0.23362	0.07455341	0.16739	0.0980514	0.23362	-3.487	0.16251	T	.	.	0.198	0.42111	B	.;.	.;.	2.178607	0.27765	17.57	0.81419057112976168	0.13676	0.59864	0.31033	D	ALL	0.196894	0.32384	N	-0.163518393347399	0.34660	1.981109	0.0656923634619325	0.42836	2.598076	0.999999999628226	0.74766	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.64	5.64	0.86480	4.094000	0.57448	11.121000	0.86550	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	15.038	0.71424	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	.	.	.	.	.	.	.	.	0.3	968.74	97	chr6	52403967	.	A	G	968.74	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-0.58;DP=835;ExcessHet=1.1394;FS=134.601;MLEAC=4;MLEAF=0.4;MQ=60;MQRankSum=0;QD=1.66;ReadPosRankSum=1.7;SOR=9.269	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:129,21:150:21:0|1:52403967_A_G:21,0,4734:52403967	2	0	3	2
chr6	52403970	52403970	C	T	exonic	PAQR8	.	nonsynonymous SNV	PAQR8:NM_133367:exon2:c.C757T:p.L253F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.00630749574742	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.214	0.19361	T	0.098	0.39040	T	0.002	0.09854	B	0.03	0.21741	B	0.156625	0.17794	N	0.568363	0.978788	0.25225	N	.	.	.	1.35	0.34648	T	-1.54	0.37375	N	0.043	0.01740	-0.9995	0.30058	T	0.022	0.09421	T	9	0.07588753	0.11786	T	0.006307	0.16580	T	0.056	0.15993	0.404	0.43573	0.258283824007	0.25425	0.4649470711667506	0.46413	0.41020588675	0.41812	0.385233283043	0.22995	T	0.083781	0.37132	T	-0.242974	0.14973	T	-0.586792	0.13944	T	0.131729736924171	0.15541	T	0.726327	0.34071	T	0.0702468	0.15457	0.08061282	0.18250	0.0702468	0.15456	0.08061282	0.18250	-4.121	0.25599	T	.	.	0.102	0.17911	B	.;.	.;.	1.645479	0.20997	15.00	0.98230747167124433	0.39387	0.23460	0.22083	N	ALL	0.166227	0.29279	N	-0.569512802825605	0.19875	1.043656	-0.505190822221499	0.22012	1.193515	0.999999888871553	0.74766	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.64	0.156	0.14205	0.857000	0.27486	0.414000	0.18144	0.599000	0.40250	0.560000	0.27425	0.980000	0.30356	0.998000	0.85391	0.207:0.4109:0.2345:0.1476	2.509	0.04369	718	0.55760	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	477.85	92	chr6	52403970	.	C	T	477.85	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-5.226;DP=629;ExcessHet=0.3476;FS=208.652;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.33;ReadPosRankSum=2.02;SOR=7.941	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:124,26:150:99:0|1:52403967_A_G:336,0,4346:52403967	4	0	2	1
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	2031.79	33	chr6	80007991	.	AGTTTTG	A	2031.79	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-1.09;DP=229;ExcessHet=2.5225;FS=222.132;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=13.11;ReadPosRankSum=1.13;SOR=8.468	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:16,15:31:99:0|1:80007990_G_A:513,0,603:80007990	4	0	3	0
chr6	80007996	80007996	T	0	exonic	TTK	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	747.37	33	chr6	80007996	.	T	*	747.37	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-0.639;DP=192;ExcessHet=3.1439;FS=221.982;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=4.85;ReadPosRankSum=0.399;SOR=8.468	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:16,15:31:99:0|1:80007990_G_A:513,0,603:80007990	3	0	3	1
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	1257.96	32	chr6	80007997	.	G	GCCCCCA	1257.96	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-1.769;DP=177;ExcessHet=1.7609;FS=139.422;MLEAC=4;MLEAF=0.4;MQ=60;MQRankSum=0;QD=12.58;ReadPosRankSum=1.08;SOR=7.613	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:16,14:30:99:0|1:80007990_G_A:471,0,606:80007990	2	0	3	2
chr6	81752068	81752068	C	T	exonic	TENT5A	.	nonsynonymous SNV	TENT5A:NM_017633:exon2:c.G74A:p.G25D	.	411	1110	1	0	0	1	0.000450248	.	.	.	710622	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.179	.	0.0051	0.00658946	0.0027	0.0195	0.0051	0	0.0004	0.0019	0.0139	0	0.00174	269	154602	rs200972669	0.0021	0.0021	0.0022	0.0020	0.0199	0.0020	0.0020	0.0186	0.0181	0.0199	0.0066	0.0045	0	0.0001	0.0137	0.0015	0.0050	0	0.0081	0.0081	0.0080	0.0084	0.0214	0.0078	0.0076	0.0202	0.0197	0.0214	0	0.0123	0.0045	0	0.0002	0.0317	0.0014	0.0145	0	0.007	0.59928	D	0.015	0.61642	D	0.0	0.02946	B	0.001	0.04355	B	0.550978	0.11436	N	0.754912	0.777295	0.29922	N	.	.	.	-4.71	0.98035	D	0.02	0.08187	N	0.292	0.36569	0.050	0.83231	D	0.726	0.90629	D	9	0.0046316087	0.00097	T	.	.	.	0.179	0.44899	.	.	0.987341243947	0.98720	0.4768478063554591	0.47604	1.19444626942	0.80353	0.692417621613	0.66053	T	0.018108	0.14658	T	-0.00605984	0.50817	T	-0.246481	0.50164	T	0.0279360331189279	0.01678	T	0.738626	0.36078	T	0.07624414	0.17231	0.14385808	0.34175	0.114825346	0.27103	0.16227238	0.37701	-5.121	0.38697	T	.	.	0.151	0.40794	B	.;.;.	.;.;.	3.460753	0.48238	22.6	0.99384793044798747	0.62068	0.41272	0.26620	N	AEFDBHCIJ	0.245068	0.36607	N	-0.360116892642339	0.26903	1.471858	-0.235801220783516	0.30263	1.702479	0.999999999941062	0.74766	0.56387	0.32371	0	0.541556	0.11502	0	0.503968	0.08637	0	0.492483	0.08430	1	.	.	5.04	4.17	0.48303	2.533000	0.45326	1.681000	0.28012	0.522000	0.23927	0.958000	0.33488	0.969000	0.29651	0.959000	0.51448	0.0:0.9096:0.0:0.0904	10.488	0.43922	894	0.26265	.;.;.	.	.	.	.	.	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	0.026667	0.123656	0.027624	0.002924	0.000000	0.008621	0.003205	0.003788	0.1429	1130.29	30	chr6	81752068	.	C	T	1130.29	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.825;DP=225;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=15.48;ReadPosRankSum=0.293;SOR=0.823	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:14,21:35:99:.:.:611,0,438:.	5	0	2	0
chr6	87464029	87464029	C	T	exonic	CFAP206	.	nonsynonymous SNV	CFAP206:NM_001031743:exon13:c.C1648T:p.R550C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	0.0718930982044	0.0013	0.000798722	0.0004	0.0028	8.857e-05	0	0.0002	0.0003	0.0011	0	0.0003558	55	154602	rs73752022	0.0002	0.0002	0.0002	0.0002	0.0032	0.0002	0.0002	0.0027	0.0025	0.0032	6.762e-05	0.0013	2.525e-05	1.878e-05	0.0021	6.955e-05	0.0005	9.375e-05	0.0007	0.0007	0.0008	0.0006	0.0021	0.0006	0.0005	0.0018	0.0016	0.0021	0	0.0004	0.0017	0.0002	0	0.0034	5.883e-05	0	0	0.001	0.78490	D	0.131	0.34596	T	1.0	0.90584	D	0.98	0.74843	D	0.000017	0.62929	D	0.152890	0.999991	0.58761	D	.	.	.	1.11	0.38883	T	-3.87	0.72594	D	0.526	0.55540	-0.5401	0.67159	T	0.276	0.64732	T	10	0.026932895	0.00849	T	0.071893	0.71389	D	0.239	0.54358	.	.	0.606442066225	0.60329	0.6478105308367476	0.64716	0.749753492462	0.63707	.	.	.	0.495183	0.81801	T	-0.311294	0.07634	T	-0.223293	0.52419	T	0.185307290956931	0.19564	T	0.952305	0.81786	D	0.24800293	0.47783	0.2310253	0.48222	0.24800293	0.47783	0.2310253	0.48221	-8.428	0.63951	D	.	.	0.101	0.17700	B	.	.	5.326972	0.89404	30	0.9990365288908355	0.97502	0.97471	0.74963	D	AEFBI	0.654907	0.62742	D	0.716644515468755	0.80723	7.357944	0.643177271147515	0.78103	6.80953	0.71963927963334	0.22916	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.78	5.78	0.91418	5.095000	0.64363	7.632000	0.62779	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.962000	0.52141	0.0:1.0:0.0:0.0	20.014	0.97470	819	0.41190	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.002520	0.005051	0.005435	0.002924	0.000000	0.000000	0.000000	0.000000	0.1429	934.04	36	chr6	87464029	.	C	T	934.04	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.041;DP=221;ExcessHet=0.3476;FS=1.892;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=10.49;ReadPosRankSum=1.43;SOR=0.446	GT:AD:DP:GQ:PL	0/1:23,23:46:99:521,0,599	5	0	2	0
chr6	96610639	96610639	G	A	exonic	FHL5	.	nonsynonymous SNV	FHL5:NM_001170807:exon5:c.G572A:p.G191D,FHL5:NM_001322466:exon5:c.G572A:p.G191D,FHL5:NM_001322467:exon6:c.G572A:p.G191D,FHL5:NM_020482:exon6:c.G572A:p.G191D	.	430	1087	5	0	0	5	0.00229463	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.345	0.0246703822464	0.0006	0.000798722	0.0009	0	0.0003	0	0	0.0010	0.0011	0.0020	0.000815	126	154602	rs17851931	0.0006	0.0006	0.0005	0.0006	0.0019	0.0005	0.0005	0.0016	0.0016	0.0001	0.0003	0.0171	0	0	0.0017	8.006e-05	0.0014	0.0019	0.0005	0.0005	0.0005	0.0005	0.0021	0.0004	0.0004	0.0011	0.0009	9.631e-05	0	0.0003	0.0141	0	0	0	0.0001	0.0009	0.0021	0.148	0.28772	T	0.126	0.35205	T	0.095	0.25437	B	0.178	0.35748	B	0.000656	0.42656	D	0.000000	0.998526	0.45035	D	1.735	0.44892	L	-2.11	0.86216	D	-2.32	0.58896	N	0.53	0.55886	-0.3588	0.73298	T	0.429	0.77166	T	10	0.016020179	0.00337	T	0.02467	0.47657	T	0.345	0.66676	.	.	0.77387072903	0.77179	0.5239808381013016	0.52322	0.150824522999	0.17009	0.446400254965	0.31452	T	0.204411	0.66592	T	-0.264457	0.12383	T	-0.159435	0.58403	T	0.0877537831621423	0.10949	T	0.841716	0.71037	T	0.28675866	0.51689	0.41550788	0.65663	0.28675866	0.51689	0.41550788	0.65663	-6.319	0.48872	T	.	.	0.448	0.63385	A	.;.;.	.;.;.	4.391468	0.67780	25.1	0.99807788836845435	0.89174	0.92088	0.54918	D	AEFBCI	0.784449	0.71513	D	0.155958212550601	0.49095	3.113716	0.311869832666972	0.56235	3.786713	0.99999071711347	0.74766	0.487112	0.14033	0	0.232529	0.04832	2	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.64	4.77	0.60425	5.460000	0.66428	7.485000	0.59302	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0684:0.0:0.8048:0.1268	11.117	0.47486	607	0.67291	Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type;Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type;Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1063.63	33	chr6	96610639	.	G	A	1063.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.189;DP=267;ExcessHet=0;FS=3.827;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.2;ReadPosRankSum=-0.321;SOR=0.405	GT:AD:DP:GQ:PL	0/1:50,45:95:99:1074,0,1260	6	0	1	0
chr6	109442859	109442859	C	G	exonic	SMPD2	.	nonsynonymous SNV	SMPD2:NM_003080:exon7:c.C599G:p.A200G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.0637370280437	.	.	8.246e-06	0	0	0	0	1.501e-05	0	0	6.5e-06	1	154602	rs778089121	6.845e-06	6.841e-06	2.724e-06	1.101e-05	2.988e-05	3.46e-06	2.52e-06	8.4e-07	5.7e-07	2.988e-05	2.236e-05	0	0	0	0	3.6e-06	6.629e-05	0	1.314e-05	1.313e-05	2.57e-05	0	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.014	0.53172	D	0.04	0.50809	D	0.978	0.58756	D	0.715	0.54683	P	0.001392	0.39175	N	0.290535	0.999081	0.46032	D	2.61	0.76335	M	-1.3	0.79571	T	-2.7	0.57599	D	0.61	0.62696	-0.6457	0.62900	T	0.275	0.64681	T	10	0.7014289	0.72468	D	0.063737	0.69060	D	0.444	0.74657	0.474	0.55020	0.830055261655	0.82844	0.5918877920688371	0.59118	0.328025167496	0.34925	0.374230802059	0.21437	T	0.667678	0.90100	D	0.0662089	0.60383	T	-0.142672	0.59885	T	0.927268326282501	0.59002	D	0.689931	0.29934	T	0.4385189	0.63306	0.43231308	0.66821	0.4385189	0.63307	0.43231308	0.66821	-7.857	0.60091	D	.	.	0.257	0.49157	B	.	.	4.382973	0.67577	25.1	0.99660112443513538	0.77883	0.93741	0.59059	D	AEFDBCI	0.639467	0.61751	D	0.289873880723672	0.55635	3.727465	0.318463377199756	0.56626	3.826073	0.999999999911489	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.95	5.06	0.67838	4.421000	0.59598	5.922000	0.51181	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.320000	0.24970	0.0:0.8587:0.1413:0.0	15.095	0.71900	554	0.71839	Endonuclease/exonuclease/phosphatase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1503.44	36	chr6	109442859	.	C	G	1503.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.243;DP=331;ExcessHet=0;FS=4.136;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.39;ReadPosRankSum=0.211;SOR=0.891	GT:AD:DP:GQ:PL	0/1:73,59:132:99:1514,0,1937	6	0	1	0
chr6	127812953	127812953	A	G	exonic	THEMIS	.	nonsynonymous SNV	THEMIS:NM_001010923:exon4:c.T1688C:p.V563A,THEMIS:NM_001164685:exon4:c.T1688C:p.V563A,THEMIS:NM_001164687:exon4:c.T1583C:p.V528A,THEMIS:NM_001318531:exon5:c.T1397C:p.V466A	.	.	.	.	.	.	.	.	.	.	.	3913541	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.022	0.00287738432838	.	.	3.306e-05	0	0	0	0	6.009e-05	0	0	2.59e-05	4	154602	rs200347578	3.694e-05	3.694e-05	4.22e-05	3.163e-05	3.597e-05	2.894e-05	2.592e-05	2.711e-05	2.387e-05	0	0	0	0	0.0002	0	3.597e-05	6.623e-05	0	4.603e-05	4.598e-05	7.712e-05	1.346e-05	7.351e-05	2.111e-05	1.528e-05	2.847e-05	1.858e-05	2.416e-05	0	0	0	0	9.429e-05	0	7.351e-05	0	0	0.279	0.15665	T	0.755	0.04754	T	0.001	0.07471	B	0.001	0.04355	B	0.472600	0.12259	N	0.746260	1	0.08975	N	0.625	0.15840	N	2.31	0.16794	T	-0.04	0.09796	N	0.054	0.06190	-0.9185	0.45756	T	0.006	0.01944	T	10	0.04716736	0.04001	T	0.002877	0.06074	T	0.022	0.04323	0.083	0.00760	0.0551355673512	0.04727	0.09165616326916426	0.09098	.	.	0.261549413204	0.05076	T	0.049779	0.28405	T	-0.499648	0.00574	T	-0.799121	0.01924	T	0.148938238620758	0.17018	T	0.421058	0.11199	T	0.026660794	0.01752	0.032786444	0.02069	0.026660794	0.01752	0.032786444	0.02068	-3.659	0.19067	T	.	.	0.067	0.05017	B	.;.;.;.;.	.;.;.;.;.	-0.051460	0.03940	0.878	0.49511338529324284	0.04222	0.01904	0.05833	N	AEFBI	0.038130	0.05350	N	-1.46776169172192	0.02081	0.09152001	-1.4746933765039	0.02553	0.1176375	5.01008312137999E-4	0.07150	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.96	-3.85	0.03964	0.051000	0.14025	0.171000	0.15519	-0.562000	0.04833	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.2202:0.1405:0.5024:0.1369	4.342	0.10551	592	0.68746	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	2405.44	35	chr6	127812953	.	A	G	2405.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.27;DP=384;ExcessHet=0;FS=3.399;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.07;ReadPosRankSum=-1.382;SOR=0.487	GT:AD:DP:GQ:PL	0/1:90,94:184:99:2416,0,2344	6	0	1	0
chr6	132538558	132538560	CAG	-	exonic	TAAR9	.	nonframeshift deletion	TAAR9:NM_175057:exon1:c.269_271del:p.T90_V91delinsM	.	427	1089	6	0	0	6	0.00274725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0018	0.0001	0	0	0	0	0.0023	0.0149	3.84e-05	1	26028	rs757617346	0.0013	0.0013	0.0008	0.0018	0.0204	0.0012	0.0012	0.0196	0.0193	6.047e-05	2.29e-05	0	5.047e-05	0	0.0005	2.53e-05	0.0015	0.0204	0.0008	0.0009	0.0004	0.0014	0.0250	0.0007	0.0007	0.0214	0.0200	7.221e-05	0	0.0003	0	0	0	0	1.471e-05	0.0005	0.0250	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	2667.4	34	chr6	132538557	.	ACAG	A	2667.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.852;DP=413;ExcessHet=0;FS=5.506;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=21;ReadPosRankSum=-0.319;SOR=1.217	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:59,68:127:99:0|1:132538557_ACAG_A:2678,0,2272:132538557	6	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	0.07143	2667.4	34	chr6	132538561	.	TG	T	2667.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.154;DP=410;ExcessHet=0;FS=5.506;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=21;ReadPosRankSum=-0.228;SOR=1.217	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:59,68:127:99:0|1:132538557_ACAG_A:2678,0,2273:132538557	6	0	1	0
chr6	132538563	132538563	A	T	exonic	TAAR9	.	nonsynonymous SNV	TAAR9:NM_175057:exon1:c.A274T:p.R92W	.	432	1084	6	0	0	6	0.00275989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0017	0.0001	0	0	0	0	0.0023	0.0151	3.84e-05	1	26028	rs756062422	0.0013	0.0013	0.0008	0.0018	0.0206	0.0012	0.0012	0.0198	0.0195	6.115e-05	2.349e-05	0	5.053e-05	0	0.0005	2.445e-05	0.0015	0.0206	0.0008	0.0009	0.0004	0.0013	0.0253	0.0007	0.0007	0.0216	0.0202	7.231e-05	0	0.0003	0	0	0	0	1.471e-05	0.0005	0.0253	.	.	.	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	.	.	.	.	.	.	.	2.67	0.78151	M	.	.	.	.	.	.	0.327	0.36779	.	.	.	.	.	.	.	0.01093024	0.00241	T	.	.	.	.	.	.	.	0.352910780287	0.34901	0.23674022207665932	0.23589	.	.	0.324220895767	0.14060	T	0.094518	0.39432	T	-0.207097	0.19789	T	-0.0624375	0.66162	T	.	.	.	0.907309	0.67223	D	0.46154478	0.64767	0.51160985	0.71777	0.46154478	0.64767	0.51160985	0.71778	-9.078	0.68197	D	.	.	0.362	0.57324	A	.	.	3.832127	0.55402	23.6	0.99863144088850286	0.94184	0.28688	0.23622	N	AEFGBI	0.361028	0.45079	N	.	.	.	.	.	.	4.79031286539793E-4	0.07095	0.06567	0.01388	0	0.085267	0.02369	0	0.063197	0.01477	0	0.075334	0.01956	0	.	.	5.25	1.26	0.20534	0.017000	0.13294	-0.233000	0.10659	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.996000	0.76049	0.4806:0.4061:0.0:0.1133	8.812	0.34128	889	0.27310	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	2667.44	34	chr6	132538563	.	A	T	2667.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.122;DP=410;ExcessHet=0;FS=5.506;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=21;ReadPosRankSum=-0.313;SOR=1.217	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:59,68:127:99:0|1:132538557_ACAG_A:2678,0,2273:132538557	6	0	1	0
chr6	132538566	132538566	-	A	exonic	TAAR9	.	frameshift insertion	TAAR9:NM_175057:exon1:c.277_278insA:p.S93Yfs*14	.	427	1089	6	0	0	6	0.00274725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0017	0.0001	0	0	0	0	0.0023	0.0150	3.84e-05	1	26028	rs769937555	0.0013	0.0013	0.0008	0.0018	0.0205	0.0012	0.0012	0.0197	0.0194	6.099e-05	2.331e-05	0	5.053e-05	0	0.0005	2.445e-05	0.0015	0.0205	0.0008	0.0009	0.0004	0.0014	0.0250	0.0007	0.0007	0.0214	0.0200	7.226e-05	0	0.0003	0	0	0	0	1.471e-05	0.0005	0.0250	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	2709.4	34	chr6	132538566	.	T	TA	2709.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.503;DP=411;ExcessHet=0;FS=4.268;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=21.17;ReadPosRankSum=-0.676;SOR=1.077	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:59,69:128:99:0|1:132538557_ACAG_A:2720,0,2270:132538557	6	0	1	0
chr6	132538569	132538569	G	T	exonic	TAAR9	.	nonsynonymous SNV	TAAR9:NM_175057:exon1:c.G280T:p.V94L	.	427	1089	6	0	0	6	0.00274725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00698882	0.0017	0.0001	0	0	0	0	0.0023	0.0147	0.0015752	41	26028	rs561599957	0.0013	0.0013	0.0008	0.0018	0.0206	0.0012	0.0012	0.0198	0.0195	6.12e-05	2.353e-05	0	5.054e-05	0	0.0007	2.448e-05	0.0015	0.0206	0.0008	0.0009	0.0004	0.0013	0.0248	0.0007	0.0007	0.0212	0.0198	7.222e-05	0	0.0003	0	0	0	0	1.47e-05	0.0005	0.0248	.	.	.	0.044	0.49663	D	0.698	0.41805	P	0.718	0.54779	P	.	.	.	.	.	.	.	1.27	0.32069	L	.	.	.	.	.	.	0.147	0.14905	.	.	.	.	.	.	.	0.008225441	0.00187	T	.	.	.	.	.	.	.	0.306053231325	0.30222	0.048454403815700264	0.04788	.	.	0.300413608551	0.10462	T	0.070043	0.33862	T	-0.234135	0.16106	T	-0.101846	0.63254	T	.	.	.	0.842916	0.51943	T	0.20482884	0.42605	0.46925017	0.69218	0.20482884	0.42605	0.46925017	0.69218	-7.078	0.54602	T	.	.	0.497	0.64459	A	.	.	3.869260	0.56167	23.7	0.99652169231703736	0.77380	0.93797	0.59218	D	AEFGBI	0.326178	0.42754	N	.	.	.	.	.	.	0.00802983586971047	0.11595	0.06567	0.01388	0	0.085267	0.02369	0	0.063197	0.01477	0	0.075334	0.01956	0	.	.	5.25	4.38	0.52019	1.912000	0.39577	2.702000	0.34168	0.676000	0.76740	0.989000	0.36753	0.999000	0.35428	0.977000	0.56843	0.0:0.1387:0.717:0.1442	11.139	0.47614	889	0.27310	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	2670.44	34	chr6	132538569	.	G	T	2670.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.412;DP=409;ExcessHet=0;FS=3.24;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=21.19;ReadPosRankSum=-0.646;SOR=1.011	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:58,68:126:99:0|1:132538557_ACAG_A:2681,0,2231:132538557	6	0	1	0
chr6	132538573	132538575	AGA	-	exonic	TAAR9	.	nonframeshift deletion	TAAR9:NM_175057:exon1:c.284_286del:p.E95_S96delinsG	.	428	1088	6	0	0	6	0.00274977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0017	0.0001	0	0	0	0	0.0024	0.0151	3.84e-05	1	26028	rs779956901	0.0013	0.0013	0.0008	0.0018	0.0206	0.0012	0.0012	0.0198	0.0195	6.127e-05	2.36e-05	0	5.056e-05	0	0.0007	2.449e-05	0.0016	0.0206	0.0009	0.0009	0.0004	0.0014	0.0253	0.0007	0.0007	0.0216	0.0202	7.23e-05	0	0.0003	0	0	0	0	1.471e-05	0.0005	0.0253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	2626.4	34	chr6	132538572	.	GAGA	G	2626.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.769;DP=412;ExcessHet=0;FS=5.332;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=20.36;ReadPosRankSum=-1.055;SOR=1.077	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:61,68:129:99:0|1:132538557_ACAG_A:2637,0,2351:132538557	6	0	1	0
chr6	132538577	132538577	C	G	exonic	TAAR9	.	nonsynonymous SNV	TAAR9:NM_175057:exon1:c.C288G:p.S96R	.	426	1090	6	0	0	6	0.00274474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0017	0.0001	0	0	0	0	0.0024	0.0151	3.84e-05	1	26028	rs756919909	0.0013	0.0013	0.0008	0.0018	0.0208	0.0012	0.0012	0.0199	0.0196	6.151e-05	2.381e-05	0	5.059e-05	0	0.0009	2.453e-05	0.0016	0.0208	0.0008	0.0009	0.0003	0.0014	0.0250	0.0007	0.0007	0.0213	0.0200	7.227e-05	0	0.0003	0	0	0	0	1.471e-05	0.0005	0.0250	.	.	.	0.038	0.51421	D	0.161	0.28372	B	0.292	0.40739	B	.	.	.	.	.	.	.	1.99	0.53851	M	.	.	.	.	.	.	0.437	0.47580	.	.	.	.	.	.	.	0.010770857	0.00238	T	.	.	.	.	.	.	.	0.3691244813	0.36518	0.07587601750386615	0.07523	.	.	0.305856764317	0.11281	T	0.070971	0.34093	T	-0.216139	0.18522	T	-0.075284	0.65246	T	.	.	.	0.828317	0.49240	T	0.6068612	0.73059	0.7110951	0.82956	0.6068612	0.73060	0.7110951	0.82957	-9.774	0.72547	D	.	.	0.643	0.70625	P	.	.	3.208334	0.43659	21.8	0.99790499987594172	0.87661	0.36804	0.25617	N	AEFGBI	0.264872	0.38212	N	.	.	.	.	.	.	0.0156414793322007	0.12738	0.06567	0.01388	0	0.085267	0.02369	0	0.063197	0.01477	0	0.075334	0.01956	0	.	.	5.25	5.25	0.73169	0.505000	0.22352	0.533000	0.19265	0.599000	0.40250	0.050000	0.21411	0.984000	0.30665	0.950000	0.49671	0.0:0.9233:0.0:0.0767	12.365	0.54552	889	0.27310	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	2626.44	34	chr6	132538577	.	C	G	2626.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.102;DP=417;ExcessHet=0;FS=5.332;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=20.36;ReadPosRankSum=-0.783;SOR=1.077	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:61,68:129:99:0|1:132538557_ACAG_A:2637,0,2350:132538557	6	0	1	0
chr6	132571343	132571343	T	C	exonic	TAAR6	.	nonsynonymous SNV	TAAR6:NM_175067:exon1:c.T1022C:p.F341S	.	435	1084	2	1	0	4	0.00184162	.	.	.	2439173	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.117	0.0402031330663	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.745e-06	2.736e-06	1.365e-06	4.138e-06	0.0005	6.4e-07	4.3e-07	0.0001	7.606e-05	0	0	0	0	0	0.0005	0	0	1.17e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.49613	D	0.015	0.61642	D	0.62	0.39915	P	0.265	0.39681	B	0.078582	0.21034	N	0.372474	1	0.08975	N	2.145	0.60081	M	0.04	0.62051	T	-5.85	0.88495	D	0.196	0.21580	-0.9308	0.44021	T	0.118	0.41560	T	10	0.14953831	0.28298	T	0.040203	0.59246	D	0.117	0.32689	0.468	0.54052	0.226586394389	0.22295	0.06207947908473188	0.06147	0.0132716735752	0.01276	0.434395700693	0.29810	T	0.092995	0.39120	T	-0.130076	0.31485	T	-0.424621	0.30547	T	0.807114481925964	0.46844	D	0.324568	0.06628	T	0.3446781	0.56650	0.32470956	0.58392	0.3446781	0.56650	0.32470956	0.58391	-7.535	0.57856	D	.	.	0.401	0.59655	A	.	.	2.173122	0.27693	17.55	0.9837515131571235	0.40791	0.30136	0.24004	N	AEFBI	0.119824	0.23369	N	-0.255031021401008	0.30902	1.727591	-0.361432249402397	0.26157	1.442997	0.255511963949098	0.18729	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.11	2.77	0.31614	1.104000	0.30687	0.429000	0.18304	0.665000	0.62972	0.264000	0.24988	0.000000	0.08366	0.223000	0.22544	0.1376:0.1554:0.0:0.707	4.906	0.13154	834	0.38640	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	819.63	36	chr6	132571343	.	T	C	819.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.01;DP=243;ExcessHet=0;FS=1.027;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.22;ReadPosRankSum=-0.409;SOR=0.892	GT:AD:DP:GQ:PL	0/1:32,30:62:99:830,0,826	6	0	1	0
chr6	143511611	143511611	C	A	exonic	FUCA2	.	nonsynonymous SNV	FUCA2:NM_032020:exon1:c.G24T:p.R8S	.	6	1514	2	0	0	2	0.000660066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.013282780138	.	0.000199681	8.418e-05	0	0.0037	0	0	0	0	0	1.29e-05	2	154602	rs530866043	2.232e-05	2.326e-05	2.269e-05	2.194e-05	0.0002	1.6e-05	1.394e-05	1.683e-05	1.43e-05	0	2.842e-05	0	0	0	0.0002	2.42e-05	5.211e-05	0	3.938e-05	3.937e-05	6.423e-05	1.342e-05	0.0001	1.714e-05	1.128e-05	2.257e-05	9.06e-06	0	0	0.0001	0	0	0	0	4.41e-05	0.0005	0	0.0	0.91255	D	0.2	0.27591	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	1.04	0.26193	L	0.59	0.53943	T	0.04	0.06488	N	0.046	0.01825	-1.0107	0.26698	T	0.076	0.30584	T	9	0.008499801	0.00193	T	0.013283	0.32560	T	0.160	0.41473	0.174	0.08014	0.194818534648	0.19098	0.49146037496378564	0.49067	0.205290401865	0.22950	0.594524800777	0.52131	T	0.117499	0.43762	T	-0.311322	0.07633	T	-0.489333	0.23461	T	0.199651762206904	0.20397	T	0.372463	0.08834	T	0.07677823	0.17387	0.17603454	0.40109	0.07677823	0.17386	0.17603454	0.40108	-3.5	0.16431	T	.	.	0.155	0.34316	B	.	.	0.685035	0.10537	7.247	0.77332556343395287	0.11832	0.42096	0.26803	N	ALL	0.135900	0.25638	N	-1.19484908221337	0.05077	0.2306314	-1.18072251240021	0.06232	0.2993327	0.999999999999891	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.42	1.5	0.22029	0.050000	0.14004	-0.465000	0.09014	-0.947000	0.02050	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.5157:0.4843:0.0	14.255	0.65595	754	0.51307	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	757.53	37	chr6	143511611	.	C	A	757.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.03;DP=252;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.97;ReadPosRankSum=0.768;SOR=0.768	GT:AD:DP:GQ:PL	0/1:44,32:76:99:768,0,1085	6	0	1	0
chr6	144426330	144426330	C	T	exonic	UTRN	.	nonsynonymous SNV	UTRN:NM_007124:exon6:c.C449T:p.T150M	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.545	0.107481849664	.	.	4.951e-05	0	0.0002	0	0	1.501e-05	0.0011	0.0001	3.88e-05	6	154602	rs755926708	2.463e-05	2.531e-05	2.587e-05	2.338e-05	0.0002	1.803e-05	1.6e-05	7.999e-05	6.237e-05	2.989e-05	4.473e-05	0	0	0	0.0002	1.439e-05	6.624e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.336	0.18232	T	1.0	0.90584	D	0.996	0.84481	D	0.000061	0.52346	D	0.000000	0.996663	0.43340	D	2.525	0.73725	M	-3.81	0.95728	D	-3.62	0.69593	D	0.781	0.77789	0.899	0.95656	D	0.906	0.96872	D	10	0.57664585	0.65617	D	0.107482	0.78358	D	0.545	0.81077	0.248	0.18447	0.891936324825	0.89086	0.6341849322684063	0.63352	0.59421333327	0.54743	0.75995361805	0.75922	T	0.708216	0.91656	D	0.128075	0.67173	D	0.22563	0.84456	D	0.866014719009399	0.51610	D	0.966003	0.87955	D	0.37084788	0.58648	0.4599987	0.68634	0.37084788	0.58648	0.4599987	0.68634	-8.794	0.66361	D	.	.	0.245	0.49295	B	.;.	.;.	5.297812	0.88949	29.8	0.99928088625237987	0.99222	0.97643	0.76109	D	AEFDBI	0.598420	0.59182	D	0.695636017833474	0.79344	7.058413	0.681804880282858	0.80998	7.42514	0.999999992777203	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.92	5.92	0.95557	6.038000	0.70604	7.609000	0.61840	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:1.0:0.0:0.0	20.315	0.98651	905	0.23532	Calponin homology domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1203.44	33	chr6	144426330	.	C	T	1203.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.979;DP=278;ExcessHet=0;FS=5.122;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.16;ReadPosRankSum=0.266;SOR=1.226	GT:AD:DP:GQ:PL	0/1:49,50:99:99:1214,0,1149	6	0	1	0
chr6	150021019	150021019	C	T	exonic	RAET1L	.	nonsynonymous SNV	RAET1L:NM_130900:exon3:c.G517A:p.E173K	.	406	1108	8	0	0	8	0.00359712	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.00172519237424	0.0072	0.00319489	0.0052	0.0016	0.0014	0	0.0029	0.0077	0.0011	0.0037	0.0054268	839	154602	rs148198102	0.0081	0.0081	0.0083	0.0078	0.0093	0.0080	0.0079	0.0092	0.0091	0.0010	0.0021	0.0123	5.038e-05	0.0030	0.0017	0.0093	0.0084	0.0037	0.0048	0.0048	0.0056	0.0039	0.0077	0.0045	0.0044	0.0072	0.0070	0.0018	0	0.0022	0.0124	0.0002	0.0021	0	0.0077	0.0033	0.0050	0.003	0.68238	D	0.004	0.74150	D	0.983	0.60381	D	0.857	0.61067	P	.	.	.	.	1	0.08975	N	.	.	.	2.98	0.09356	T	-3.33	0.66206	D	0.168	0.17828	-1.0707	0.09260	T	0.026	0.11087	T	9	0.00672698	0.00153	T	0.001725	0.02882	T	0.043	0.11576	.	.	0.254244900254	0.25046	0.23325492473537512	0.23240	0.192957473328	0.21626	0.316740572453	0.12927	T	0.01837	0.14822	T	-0.620221	0.00110	T	-0.65265	0.08769	T	0.0207443749061396	0.00774	T	0.920908	0.71352	D	0.310507	0.53830	0.34226173	0.59955	0.310507	0.53830	0.34226173	0.59954	-6.86	0.53004	T	.	.	0.196	0.41798	B	.;.	.;.	1.899746	0.24129	16.28	0.99206706091487862	0.55442	0.00753	0.03128	N	AEFI	0.023743	0.01365	N	-0.367198781803063	0.26644	1.455756	-0.681990130928375	0.17411	0.9256887	1.15833776898731E-5	0.02871	0.549168	0.22868	0	0.627178	0.54094	0	0.59043	0.30614	0	0.616125	0.45549	0	.	.	1.91	-0.0121	0.13314	-0.062000	0.11631	-4.266000	0.02248	0.596000	0.33519	0.001000	0.13787	0.000000	0.08366	0.005000	0.06747	0.0:0.6012:0.0:0.3988	4.177	0.09818	299	0.88026	MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.005051	0.004076	0.000000	0.000000	0.008621	0.003049	0.000000	0.07143	2905.44	33	chr6	150021019	.	C	T	2905.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.059;DP=736;ExcessHet=0;FS=1.429;MLEAC=1;MLEAF=0.071;MQ=59.93;MQRankSum=-0.191;QD=10.23;ReadPosRankSum=-0.882;SOR=0.607	GT:AD:DP:GQ:PL	0/1:161,123:284:99:2916,0,4162	6	0	1	0
chr6	150065587	150065587	G	A	exonic	ULBP3	.	nonsynonymous SNV	ULBP3:NM_024518:exon3:c.C439T:p.R147W	.	436	1084	2	0	0	2	0.000921659	.	.	.	2223534	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.074	0.00216405864512	7.7e-05	.	6.589e-05	0	0	0	0	8.99e-05	0	0.0001	5.17e-05	8	154602	rs372155960	2.326e-05	2.326e-05	1.906e-05	2.75e-05	0.0003	1.674e-05	1.477e-05	6.092e-05	2.521e-05	0	0	0.0002	0	0	0.0003	1.888e-05	3.311e-05	3.478e-05	1.314e-05	1.313e-05	1.285e-05	1.346e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.0	0.91255	D	0.001	0.83351	D	0.986	0.61523	D	0.6	0.50752	P	.	.	.	.	1	0.08975	N	.	.	.	3.2	0.07236	T	-3.18	0.64478	D	0.192	0.21056	-1.0734	0.08681	T	0.012	0.04463	T	9	0.160317	0.30100	T	0.002164	0.04043	T	0.074	0.21613	.	.	0.294561560033	0.29076	0.2077957385423685	0.20695	0.421847818605	0.42694	0.264152258635	0.05395	T	0.016555	0.13660	T	-0.403692	0.02189	T	-0.636124	0.09954	T	0.294054308419766	0.24758	T	0.933407	0.75038	D	0.30523413	0.53370	0.25085387	0.50685	0.30523413	0.53370	0.25085387	0.50684	-5.676	0.43479	T	.	.	0.137	0.29914	B	.;.	.;.	2.258427	0.28859	17.93	0.99616106751026501	0.75112	0.01402	0.04750	N	AEFDBI	0.051091	0.08994	N	-0.672055422042061	0.16821	0.860352	-0.972324692850807	0.10409	0.524099	0.972061096082297	0.29339	0.706548	0.73137	0	0.610034	0.51514	0	0.566861	0.19136	0	0.714379	0.83352	0	.	.	3.34	-4.93	0.02839	-0.684000	0.05275	-9.247000	0.00847	-1.241000	0.01314	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0978:0.0:0.219:0.6832	7.506	0.26714	330	0.86467	MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	2181.44	34	chr6	150065587	.	G	A	2181.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.48;DP=405;ExcessHet=0;FS=1.104;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.02;ReadPosRankSum=0.141;SOR=0.59	GT:AD:DP:GQ:PL	0/1:108,90:198:99:2192,0,2516	6	0	1	0
chr6	158503306	158503306	C	T	exonic	TULP4	.	nonsynonymous SNV	TULP4:NM_020245:exon13:c.C3643T:p.P1215S	.	431	1075	16	0	0	16	0.00738689	.	.	.	2828089	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.044	0.00776409537166	0.0032	0.00159744	0.0025	9.636e-05	0.0016	0.0001	0.0017	0.0030	0.0055	0.0038	0.0023092	357	154602	rs34395018	0.0026	0.0026	0.0026	0.0027	0.0049	0.0026	0.0025	0.0034	0.0033	0.0002	0.0012	0.0140	7.557e-05	0.0015	0.0049	0.0025	0.0030	0.0038	0.0020	0.0020	0.0021	0.0018	0.0058	0.0018	0.0017	0.0041	0.0036	0.0003	0.0022	0.0014	0.0130	0	0.0008	0	0.0026	0.0019	0.0058	0.185	0.21550	T	0.837	0.03642	T	0.002	0.09854	B	0.003	0.08700	B	0.000108	0.50451	D	0.177152	1	0.81001	D	0.95	0.23787	L	2.02	0.21119	T	-0.68	0.19509	N	0.101	0.08366	-1.0660	0.10316	T	0.019	0.07939	T	10	0.0028075874	0.00044	T	0.007764	0.20589	T	0.044	0.11924	.	.	0.082315109003	0.07666	0.4074727361748247	0.40663	0.23410116099	0.25944	0.423403203487	0.28305	T	0.012719	0.11127	T	-0.528079	0.00394	T	-0.531333	0.19154	T	0.00480502856579419	0.00052	T	0.725627	0.33984	T	0.05243216	0.09778	0.08808948	0.20519	0.05243216	0.09777	0.08808948	0.20518	-4.148	0.25995	T	.	.	0.076	0.05979	B	.	.	1.685817	0.21482	15.22	0.86066393770840699	0.16291	0.90874	0.52424	D	AEFDBI	0.191881	0.31906	N	-0.52677038843786	0.21218	1.124423	-0.43622951719758	0.23941	1.308365	0.97568999832254	0.29655	0.706298	0.61202	0	0.577304	0.33150	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.08	3.28	0.36691	1.774000	0.38203	1.394000	0.26140	0.599000	0.40250	0.994000	0.38300	0.974000	0.29927	0.739000	0.35404	0.0:0.738:0.262:0.0	15.500	0.75421	693	0.58582	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006042	0.000000	0.001359	0.000000	0.000000	0.017241	0.021341	0.007576	0.1429	3594.26	43	chr6	158503306	.	C	T	3594.26	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.196;DP=468;ExcessHet=0.3476;FS=0.44;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=0.529;SOR=0.659	GT:AD:DP:GQ:PL	0/1:69,80:149:99:1996,0,1646	5	0	2	0
chr6	160027227	160027227	C	T	exonic	IGF2R	.	nonsynonymous SNV	IGF2R:NM_000876:exon6:c.C689T:p.P230L	Hepatocellular carcinoma, somatic	413	1107	2	0	0	2	0.000902527	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00270619618243	7.7e-05	.	2.497e-05	0	0	0	0	4.545e-05	0	0	1.94e-05	3	154602	rs367819391	3.899e-05	3.899e-05	2.722e-05	5.088e-05	0.0002	3.047e-05	2.783e-05	3.765e-05	2.662e-05	0	0	0	0	0	0.0002	3.777e-05	0.0001	8.115e-05	6.568e-06	6.566e-06	0	1.344e-05	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.294	0.14793	T	0.288	0.21144	T	0.001	0.07471	B	0.001	0.04355	B	0.355562	0.04272	N	1.341150	0.999994	0.08975	N	.	.	.	2.47	0.14783	T	-2.66	0.56945	D	0.098	0.07949	-0.9572	0.39699	T	0.007	0.02558	T	10	0.07664204	0.11999	T	0.002706	0.05550	T	0.009	0.00846	.	.	0.200294437569	0.19612	0.29073885813832195	0.28986	0.0941277543069	0.10624	0.234187468886	0.02292	T	0.139657	0.47380	T	-0.463566	0.00934	T	-0.711975	0.05194	T	0.0256856736550977	0.01363	T	0.432757	0.11777	T	0.13939586	0.32201	0.120060965	0.28977	0.13939586	0.32201	0.120060965	0.28976	-5.329	0.40229	T	.	.	0.065	0.01960	B	.;.	.;.	0.222558	0.06049	2.490	0.61167925717414606	0.06642	0.06199	0.12184	N	AEFDBI	0.045898	0.07560	N	-1.29800139599903	0.03700	0.1657461	-1.3344245118023	0.03992	0.1874142	0.9999695066381	0.48965	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.22	-2.89	0.05326	-1.126000	0.03365	-1.397000	0.05536	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.052000	0.15357	0.3086:0.2984:0.2028:0.1902	0.904	0.01200	794	0.45591	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	410.49	33	chr6	160027227	.	C	T	410.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.878;DP=216;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.55;ReadPosRankSum=-1.334;SOR=0.793	GT:AD:DP:GQ:PL	0/1:24,19:43:99:421,0,526	6	0	1	0
chr6	160075878	160075878	T	C	exonic	IGF2R	.	nonsynonymous SNV	IGF2R:NM_000876:exon36:c.T5198C:p.L1733P	Hepatocellular carcinoma, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.336	0.0306777176214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.49117	D	0.004	0.74150	D	0.968	0.56581	D	0.857	0.61067	P	0.121196	0.19005	N	0.524332	1	0.81001	D	.	.	.	2.69	0.12268	T	-3.94	0.73378	D	0.632	0.64563	-1.1257	0.01999	T	0.062	0.25958	T	10	0.81614983	0.80853	D	0.030678	0.52936	D	0.336	0.65816	0.721	0.85585	0.432376951215	0.42856	0.9034441852949975	0.90317	1.52902459081	0.87555	0.440025866032	0.30580	T	0.294862	0.66753	T	0.00114482	0.51812	T	-0.236132	0.51175	T	0.951098203659058	0.63483	D	0.659534	0.26859	T	0.90437967	0.91777	0.83297163	0.90379	0.90437967	0.91779	0.83297163	0.90380	-7.008	0.54092	T	.	.	0.492	0.64196	A	.;.	.;.	3.886481	0.56525	23.7	0.9990976413893855	0.97949	0.97599	0.75810	D	AEFBI	0.757444	0.69640	D	0.635345496790111	0.75424	6.303263	0.598946228549834	0.74863	6.210195	0.998478521596233	0.37033	0.732398	0.92422	0	0.698795	0.70079	0	0.702456	0.68683	0	0.727631	0.95156	0	.	.	5.31	5.31	0.75063	5.513000	0.66754	7.789000	0.68848	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.720000	0.34772	0.0:0.0:0.0:1.0	15.564	0.76014	607	0.67291	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.07143	1747.44	33	chr6	160075878	.	T	C	1747.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.186;DP=349;ExcessHet=0;FS=2.714;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.59;ReadPosRankSum=-0.016;SOR=0.514	GT:AD:DP:GQ:PL	0/1:89,76:165:99:1758,0,2138	6	0	1	0
chr6	161139586	161139586	G	A	exonic	AGPAT4	.	nonsynonymous SNV	AGPAT4:NM_020133:exon8:c.C878T:p.T293I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.0119487896446	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1479412309	6.843e-07	6.84e-07	0	1.376e-06	8.996e-07	0	0	.	.	0	0	0	0	0	0	8.996e-07	0	0	1.97e-05	1.968e-05	2.57e-05	1.344e-05	0.0002	5.24e-06	2.45e-06	7.98e-06	2.98e-06	4.813e-05	0	0	0	0	0	0	0	0	0.0002	0.227	0.18498	T	0.213	0.26467	T	0.0	0.02946	B	0.001	0.04355	B	0.596028	0.11003	N	0.836229	1	0.08975	N	1.08	0.27187	L	1.47	0.31987	T	-2.0	0.46146	N	0.113	0.10056	-0.9741	0.36323	T	0.019	0.08126	T	10	0.08887109	0.15343	T	0.011949	0.30076	T	0.021	0.04004	0.316	0.29258	0.043077524339	0.03247	0.32973086744049046	0.32886	0.795556768114	0.66026	0.384480178356	0.22890	T	0.112059	0.42804	T	-0.336844	0.05610	T	-0.72163	0.04717	T	0.0938196778297424	0.11664	T	0.419858	0.11135	T	0.048303947	0.08396	0.06462313	0.12978	0.048303947	0.08396	0.06462313	0.12978	-4.636	0.32621	T	.	.	0.075	0.05668	B	.	.	1.620281	0.20694	14.87	0.99132818409249923	0.53302	0.30397	0.24072	N	AEFBCI	0.036488	0.04869	N	-0.492991783003352	0.22309	1.190377	-0.370199737402445	0.25890	1.426607	0.858850227393866	0.25186	0.651	0.46895	0	0.550933	0.16991	0	0.643519	0.47002	0	0.683762	0.67416	0	.	.	5.17	2.59	0.30091	0.647000	0.24500	3.619000	0.39279	0.660000	0.55035	0.690000	0.28531	1.000000	0.68203	0.912000	0.44740	0.3856:0.0:0.6144:0.0	7.564	0.27033	870	0.31527	Acyltransferase, C-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	867.63	35	chr6	161139586	.	G	A	867.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.01;DP=257;ExcessHet=0;FS=4.207;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.58;ReadPosRankSum=0.819;SOR=1.179	GT:AD:DP:GQ:PL	0/1:44,38:82:99:878,0,992	6	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	.	.	.	.	.	.	.	.	0.2857	235.98	5	chr7	290725	.	C	G	235.98	.	AC=4;AF=0.286;AN=14;BaseQRankSum=0.189;DP=159;ExcessHet=2.5225;FS=183.453;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=2.07;ReadPosRankSum=1.23;SOR=7.742	GT:AD:DP:GQ:PL	0/1:19,13:32:40:40,0,174	3	0	4	0
chr7	2433290	2433290	C	A	exonic	CHST12	.	nonsynonymous SNV	CHST12:NM_001243794:exon2:c.C651A:p.N217K,CHST12:NM_001243795:exon2:c.C651A:p.N217K,CHST12:NM_018641:exon2:c.C651A:p.N217K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.267	0.0351799423233	.	.	8.428e-06	0	0	0	0	0	0.0011	0	6.5e-06	1	154602	rs773781470	6.85e-07	6.84e-07	0	1.377e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.36310	T	0.62	0.37173	T	0.854	0.47077	P	0.381	0.43873	B	0.000036	0.55875	D	0.157019	0.999994	0.58761	D	1.03	0.25572	L	-0.68	0.72568	T	-2.24	0.50175	N	0.629	0.64308	-0.6866	0.61066	T	0.256	0.62643	T	10	0.43824112	0.57933	T	0.03518	0.56172	D	0.267	0.58126	0.656	0.79379	0.893493033289	0.89244	0.871398533654742	0.87105	0.715199722194	0.61928	0.520734190941	0.41730	T	0.148593	0.48722	T	-0.0720679	0.40996	T	-0.341297	0.40198	T	0.542676845233073	0.34204	D	0.851715	0.53598	D	0.21287948	0.43652	0.2478232	0.50320	0.21287948	0.43652	0.2478232	0.50319	-7.191	0.55416	T	.	.	0.516	0.74947	A	.;.;.	.;.;.	3.335993	0.45945	22.2	0.9968668754711284	0.79641	0.98526	0.83723	D	AEFDGBI	0.658434	0.62971	D	0.28848926524587	0.55563	3.720498	0.345188998593054	0.58219	3.991113	0.819052493341331	0.24491	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.1	4.09	0.47038	4.847000	0.62565	4.805000	0.44998	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.8819:0.0:0.1181	12.128	0.53230	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	.	.	.	.	.	.	.	.	0.07143	1579.83	33	chr7	2433290	.	C	A	1579.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.724;DP=304;ExcessHet=0;FS=2.33;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.17;ReadPosRankSum=0.526;SOR=0.934	GT:AD:DP:GQ:PL	0/1:64,56:120:99:1590,0,1829	6	0	1	0
chr7	2542173	2542173	A	C	exonic	BRAT1	.	nonsynonymous SNV	BRAT1:NM_001350627:exon6:c.T437G:p.L146R,BRAT1:NM_001350626:exon7:c.T962G:p.L321R,BRAT1:NM_152743:exon7:c.T962G:p.L321R	Rigidity and multifocal seizure syndrome, lethal neonatal, Autosomal recessive	0	1491	30	1	0	32	0.0106171	.	.	YES	363971	Neonatal-onset_encephalopathy_with_rigidity_and_seizures|Neurodevelopmental_disorder_with_cerebellar_atrophy_and_with_or_without_seizures|not_provided|BRAT1-related_disorder	MONDO:MONDO:0013784,MedGen:C3281029,OMIM:614498,Orphanet:435845|MONDO:MONDO:0020841,MedGen:C4748032,OMIM:618056|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.799	.	0.0048	0.00339457	0.0103	0.0007	0.0094	0	0.0166	0.0155	0.0045	0.0080	0.0036675	567	154602	rs150942467	0.0086	0.0085	0.0086	0.0086	0.0096	0.0084	0.0084	0.0095	0.0094	0.0010	0.0039	0.0037	0	0.0086	0.0077	0.0096	0.0070	0.0062	0.0066	0.0066	0.0069	0.0063	0.0093	0.0062	0.0061	0.0087	0.0085	0.0016	0.0318	0.0077	0.0032	0	0.0106	0.0103	0.0093	0.0057	0.0037	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.495	0.72670	M	-0.87	0.74583	T	-4.3	0.76496	D	0.924	0.92784	0.084	0.83888	D	0.472	0.79695	T	10	0.020496815	0.00473	T	.	.	.	0.799	0.93425	.	.	0.779192970331	0.77716	0.8486993657309405	0.84830	0.354304652269	0.37210	0.496233224869	0.38303	T	0.137523	0.47051	T	-0.00844316	0.50484	T	0.221493	0.84252	D	0.0193440535127068	0.00639	T	0.782722	0.41876	T	0.79226124	0.83415	0.7237451	0.83684	0.79226124	0.83416	0.7237451	0.83685	-10.099	0.74502	D	0.8584731998218259	0.92261	0.351	0.56664	A	.	.	4.518106	0.70818	25.6	0.99772560332094673	0.86003	0.95447	0.64757	D	AEFGBCI	0.563647	0.57076	D	0.654033638201833	0.76632	6.522163	0.608210816914051	0.75533	6.327763	0.997020771789545	0.35208	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.42	5.42	0.78666	2.391000	0.44078	11.059000	0.85411	0.751000	0.87719	0.963000	0.33788	1.000000	0.68203	0.788000	0.37229	1.0:0.0:0.0:0.0	14.012	0.64019	946	0.12043	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.008089	0.000000	0.013699	0.005988	0.000000	0.000000	0.018293	0.003788	0.07143	1178.45	37	chr7	2542173	.	A	C	1178.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.613;DP=288;ExcessHet=0;FS=6.284;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=-0.839;SOR=0.451	GT:AD:DP:GQ:PL	0/1:49,54:103:99:1189,0,1121	6	0	1	0
chr7	4784272	4784272	C	T	exonic	AP5Z1	.	nonsynonymous SNV	AP5Z1:NM_001364858:exon5:c.C223T:p.R75C,AP5Z1:NM_014855:exon6:c.C691T:p.R231C	Spastic paraplegia 48, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	523106	Hereditary_spastic_paraplegia_48|not_provided|Inborn_genetic_diseases	MONDO:MONDO:0013342,MedGen:C3150901,OMIM:613647,Orphanet:306511|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.052	0.0521709844036	.	.	0.0002	0	0.0009	0	0	6.989e-05	0.0029	0.0002	6.47e-05	10	154602	rs774832344	0.0002	0.0002	0.0002	0.0002	0.0021	0.0001	0.0001	0.0012	0.0009	3.008e-05	0.0001	0	7.681e-05	0	0.0021	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0.0004	0.0001	9.704e-05	0.0002	0.0001	4.824e-05	0	0.0004	0	0	0	0.0032	0.0002	0.0010	0.0002	0.059	0.37536	T	0.173	0.30143	T	0.993	0.65571	D	0.646	0.52296	P	0.306943	0.14500	N	0.693976	0.855438	0.35294	D	0.69	0.16971	N	0.93	0.44065	T	-1.4	0.34596	N	0.183	0.19861	-0.8459	0.52249	T	0.124	0.42778	T	10	0.09637657	0.17281	T	0.052171	0.64964	D	0.052	0.14661	.	.	0.209622950755	0.20551	0.3238630021136059	0.32299	.	.	0.23278850317	0.02181	T	0.021932	0.16994	T	-0.397577	0.02401	T	-0.502892	0.22047	T	0.0795615378085966	0.09930	T	0.846115	0.52582	T	0.09741593	0.22963	0.07920553	0.17809	0.09741593	0.22963	0.07920553	0.17809	-3.578	0.17539	T	0.2168345886664403	0.29174	0.08	0.07793	B	.;.	.;.	3.566337	0.50211	22.9	0.99816150755899768	0.89973	0.85497	0.44635	D	AEFDGBCI	0.273706	0.38905	N	0.131211620003607	0.47924	3.011334	0.110381075418592	0.45079	2.777508	0.919053212789616	0.26590	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.31	4.31	0.50718	0.803000	0.26744	1.772000	0.28642	0.599000	0.40250	0.988000	0.36536	0.999000	0.35428	0.801000	0.37776	0.0:1.0:0.0:0.0	16.113	0.81082	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	0.002026	0.000000	0.002725	0.000000	0.000000	0.008621	0.003106	0.000000	0.07143	1112.83	35	chr7	4784272	.	C	T	1112.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.19;DP=293;ExcessHet=0;FS=7.374;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.94;ReadPosRankSum=-1.674;SOR=1.236	GT:AD:DP:GQ:PL	0/1:62,50:112:99:1123,0,1358	6	0	1	0
chr7	5351938	5351938	G	A	exonic	TNRC18	.	nonsynonymous SNV	TNRC18:NM_001080495:exon17:c.C5351T:p.A1784V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.0131193142886	.	.	1.755e-05	0	0	0	0	1.597e-05	0	6.146e-05	1.29e-05	2	154602	rs550682983	8.211e-06	8.209e-06	5.447e-06	1.1e-05	0.0002	4.38e-06	3.46e-06	2.986e-05	1.805e-05	2.987e-05	8.95e-05	0	0	0	0.0002	4.497e-06	0	1.159e-05	6.571e-06	6.566e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.029	0.45756	D	0.139	0.33666	T	0.022	0.18677	B	0.006	0.12133	B	0.053512	0.22802	N	0.222949	0.998863	0.21844	N	1.24	0.30952	L	2.5	0.14408	T	-2.51	0.54546	D	0.291	0.32921	-1.0237	0.22508	T	0.038	0.16246	T	10	0.08332977	0.13849	T	0.013119	0.32271	T	0.072	0.21020	0.12	0.02719	0.043077524339	0.03247	0.09246395837974745	0.09178	0.183786363742	0.20674	0.385302186012	0.23005	T	0.022995	0.17632	T	-0.351345	0.04642	T	-0.641829	0.09536	T	0.327885299921036	0.26140	T	0.708429	0.31914	T	0.076131	0.17196	0.10984021	0.26477	0.076131	0.17196	0.10984021	0.26476	-4.787	0.34440	T	.	.	0.087	0.11317	B	.;.	.;.	2.028892	0.25788	16.89	0.95086023168221945	0.26142	0.25633	0.22757	N	AEFDBI	0.054092	0.09803	N	-0.537250394151806	0.20885	1.10433	-0.475317243879017	0.22836	1.242336	0.999968201063483	0.48965	0.706548	0.73137	0	0.724815	0.89359	0	0.619478	0.44681	0	0.635551	0.53088	0	.	.	5.03	2.06	0.25932	0.564000	0.23265	1.001000	0.23261	0.676000	0.76740	0.006000	0.17386	0.334000	0.24388	0.994000	0.71098	0.0:0.5463:0.4537:0.0	16.218	0.82059	911	0.21964	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1193.27	35	chr7	5351938	.	G	A	1193.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.894;DP=242;ExcessHet=0;FS=7.578;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.81;ReadPosRankSum=-0.865;SOR=0.187	GT:AD:DP:GQ:PL	0/1:21,46:67:99:1203,0,523	5	0	1	1
chr7	5992017	5992017	C	T	exonic	PMS2	.	nonsynonymous SNV	PMS2:NM_001322008:exon7:c.G626A:p.R209Q,PMS2:NM_001322004:exon8:c.G539A:p.R180Q,PMS2:NM_001322007:exon8:c.G626A:p.R209Q,PMS2:NM_001322010:exon8:c.G539A:p.R180Q,PMS2:NM_001322013:exon8:c.G371A:p.R124Q,PMS2:NM_000535:exon9:c.G944A:p.R315Q,PMS2:NM_001322003:exon9:c.G539A:p.R180Q,PMS2:NM_001322005:exon9:c.G539A:p.R180Q,PMS2:NM_001322006:exon9:c.G944A:p.R315Q,PMS2:NM_001322009:exon9:c.G539A:p.R180Q,PMS2:NM_001322011:exon9:c.G11A:p.R4Q,PMS2:NM_001322012:exon9:c.G11A:p.R4Q,PMS2:NM_001322014:exon9:c.G944A:p.R315Q,PMS2:NM_001322015:exon9:c.G635A:p.R212Q	Colorectal cancer, hereditary nonpolyposis, type 4;Mismatch repair cancer syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	182774	Lynch_syndrome_4|not_provided|PMS2-related_disorder|not_specified|Hereditary_cancer-predisposing_syndrome|Mismatch_repair_cancer_syndrome_4|Hereditary_nonpolyposis_colorectal_neoplasms|Lynch_syndrome|Breast_and/or_ovarian_cancer	MONDO:MONDO:0013699,MedGen:C1838333,OMIM:614337,Orphanet:144|MedGen:C3661900|.|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0030843,MedGen:C5436817,OMIM:619101|MeSH:D003123,MedGen:C0009405|MONDO:MONDO:0005835,MedGen:C4552100,Orphanet:144|MedGen:CN221562	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.591	0.0569733626982	0.0002	0.000199681	2.487e-05	9.686e-05	0	0	0	3.019e-05	0	0	2.59e-05	4	154602	rs116314131	2.068e-05	2.326e-05	1.923e-05	2.215e-05	0.0002	1.467e-05	1.273e-05	9.809e-05	6.988e-05	0.0002	0	0	5.047e-05	0	0	1.815e-05	1.666e-05	0	5.259e-05	5.251e-05	6.431e-05	4.034e-05	0.0001	2.558e-05	1.831e-05	6.275e-05	4.295e-05	0.0001	0	0	0	0	0	0	2.941e-05	0	0	0.149	0.27194	T	0.231	0.30534	T	0.999	0.90584	D	0.619	0.83170	P	0.000014	0.62929	D	0.064353	0.999972	0.81001	D	2.165	0.60562	M	-1.81	0.83970	D	-2.68	0.57275	D	0.549	0.57518	0.109	0.84332	D	0.664	0.88329	D	10	0.5413475	0.63737	D	0.056973	0.66799	D	0.591	0.83691	.	.	0.910573392133	0.90967	0.5002295631445034	0.49943	0.227101430586	0.25262	0.439710557461	0.30537	T	0.278174	0.65081	T	0.0459511	0.57821	T	0.00975702	0.70967	D	0.809331357479095	0.46999	D	0.972403	0.92442	D	0.5976499	0.72565	0.45924804	0.68585	0.5976499	0.72566	0.45924804	0.68586	-10.479	0.76726	D	0.5534722112245647	0.62182	0.121	0.45678	B	.;.;.;.;.	.;.;.;.;.	5.353758	0.89797	31	0.99940270582314439	0.99767	0.96353	0.68724	D	AEFGBI	0.557868	0.56732	D	0.318530686757951	0.57100	3.876171	0.335907781046865	0.57662	3.932901	0.999544436518186	0.40300	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.4	5.4	0.77957	5.738000	0.68254	7.542000	0.60105	0.545000	0.25583	1.000000	0.71638	1.000000	0.68203	0.892000	0.42986	0.0:0.9156:0.0:0.0844	12.933	0.57693	878	0.29785	DNA mismatch repair protein,  S5 domain 2-like|DNA mismatch repair protein,  S5 domain 2-like|DNA mismatch repair protein family, N-terminal;DNA mismatch repair protein,  S5 domain 2-like|DNA mismatch repair protein,  S5 domain 2-like;DNA mismatch repair protein,  S5 domain 2-like|DNA mismatch repair protein,  S5 domain 2-like;DNA mismatch repair protein,  S5 domain 2-like|DNA mismatch repair protein,  S5 domain 2-like;DNA mismatch repair protein,  S5 domain 2-like|DNA mismatch repair protein,  S5 domain 2-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	.	.	.	.	.	.	.	.	0.07143	1125.44	35	chr7	5992017	.	C	T	1125.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.06;DP=301;ExcessHet=0;FS=0.719;MLEAC=1;MLEAF=0.071;MQ=58.93;MQRankSum=1.92;QD=10.23;ReadPosRankSum=0.096;SOR=0.816	GT:AD:DP:GQ:PL	0/1:60,50:110:99:1136,0,1302	6	0	1	0
chr7	23698220	23698220	-	C	exonic	FAM221A	.	frameshift insertion	FAM221A:NM_001300932:exon4:c.493dupC:p.I166Hfs*17,FAM221A:NM_199136:exon5:c.667dupC:p.I224Hfs*17	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.939e-07	6.841e-07	0	1.394e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1078.23	35	chr7	23698220	.	T	TC	1078.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.268;DP=269;ExcessHet=0;FS=0.906;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.57;ReadPosRankSum=0.85;SOR=0.874	GT:AD:DP:GQ:PL	0/1:35,39:74:99:1088,0,982	5	0	1	1
chr7	26185519	26185519	A	T	exonic	NFE2L3	.	nonsynonymous SNV	NFE2L3:NM_004289:exon4:c.A1821T:p.E607D	.	.	.	.	.	.	.	.	.	.	.	2367627	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.696	0.0727586448597	7.7e-05	.	0.0001	0.0004	8.646e-05	0.0007	0	3.001e-05	0	0	3.84e-05	1	26028	rs138448739	3.489e-05	3.489e-05	4.221e-05	2.751e-05	0.0003	2.697e-05	2.438e-05	0.0002	0.0001	0.0001	6.71e-05	0	0.0003	1.872e-05	0	1.889e-05	8.282e-05	5.798e-05	9.189e-05	9.842e-05	8.991e-05	9.396e-05	0.0004	5.522e-05	4.36e-05	0.0001	0.0001	0.0003	0	0	0	0.0004	0	0	1.47e-05	0	0	0.0	0.91255	D	0.016	0.60972	D	1.0	0.90584	D	0.993	0.81110	D	0.000000	0.84330	D	0.049219	0.957251	0.38015	D	2.64	0.77224	M	-3.04	0.92357	D	-2.67	0.57110	D	0.459	0.49602	0.685	0.92986	D	0.823	0.94033	D	10	0.5072564	0.61890	D	0.072759	0.71615	D	0.696	0.89007	0.542	0.65446	0.92883103195	0.92810	0.500446649731783	0.49965	0.00193141384385	0.00161	0.512253642082	0.40537	T	0.880109	0.97480	D	-0.0084153	0.50486	T	0.106513	0.77340	D	0.193306363260063	0.20037	T	0.70293	0.31283	T	0.8207149	0.85268	0.7005954	0.82359	0.8207149	0.85269	0.7005954	0.82360	-10.46	0.76617	D	.	.	0.547	0.66648	A	.	.	3.192555	0.43383	21.7	0.99838308919829355	0.91886	0.04860	0.10597	N	AEFDGBHCI	0.279400	0.39345	N	0.275233231161361	0.54895	3.654288	0.163983692994561	0.47887	3.012322	0.999999707937877	0.74766	0.78354	0.99714	0	0.827368	0.99789	0	0.643519	0.47002	0	0.741806	0.99463	0	.	.	5.71	-0.00344	0.13348	0.843000	0.27293	2.259000	0.31747	0.686000	0.82685	0.995000	0.38783	1.000000	0.68203	0.910000	0.44547	0.6331:0.0:0.3669:0.0	10.683	0.45022	747	0.52260	Basic leucine zipper domain, Maf-type|Basic-leucine zipper domain|Basic-leucine zipper domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1593.46	34	chr7	26185519	.	A	T	1593.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.774;DP=299;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=59.8;MQRankSum=0.337;QD=15.32;ReadPosRankSum=0.304;SOR=0.684	GT:AD:DP:GQ:PL	0/1:40,64:104:99:1604,0,955	6	0	1	0
chr7	27094575	27094578	ACCC	-	exonic	HOXA1	.	frameshift deletion	HOXA1:NM_005522:exon2:c.870_873del:p.E290Dfs*41	Athabaskan brainstem dysgenesis syndrome;Bosley-Salih-Alorainy syndrome	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	104.19	34	chr7	27094574	.	GACCC	G	104.19	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.408;DP=474;ExcessHet=0.3476;FS=149.023;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=0.35;ReadPosRankSum=2.76;SOR=7.701	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:123,16:139:24:0|1:27094574_GACCC_G:24,0,4623:27094574	5	0	2	0
chr7	36334095	36334095	T	A	exonic	KIAA0895	.	nonsynonymous SNV	KIAA0895:NM_001199707:exon4:c.A1028T:p.K343I,KIAA0895:NM_001300956:exon4:c.A332T:p.K111I,KIAA0895:NM_015314:exon4:c.A914T:p.K305I,KIAA0895:NM_001100425:exon5:c.A1067T:p.K356I,KIAA0895:NM_001199706:exon5:c.A1058T:p.K353I,KIAA0895:NM_001199708:exon5:c.A758T:p.K253I	.	428	1092	2	0	0	2	0.000914913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.266	0.016989910674	.	.	0.0001	0	0	0	0	2.998e-05	0	0.0007	9.06e-05	14	154602	rs756951445	9.577e-05	9.577e-05	4.901e-05	0.0001	0.0010	8.242e-05	7.783e-05	0.0008	0.0007	2.987e-05	0	0	0	0	0.0005	3.867e-05	0.0002	0.0010	9.19e-05	9.186e-05	7.707e-05	0.0001	0.0015	5.523e-05	4.361e-05	0.0007	0.0005	4.81e-05	0	0	0	0	0	0	7.349e-05	0	0.0015	0.046	0.72154	D	0.004	0.74150	D	1.0	0.90584	D	0.99	0.78936	D	0.000003	0.62929	D	0.135551	0.999257	0.46462	D	2.175	0.60977	M	.	.	.	-5.15	0.85617	D	0.501	0.58543	-0.4743	0.69573	T	0.304	0.67482	T	9	0.09432003	0.16761	T	0.01699	0.38500	T	0.266	0.57999	0.344	0.33788	0.429320821379	0.42548	0.7874869522891219	0.78700	1.3443435746	0.83939	0.645510554314	0.59348	T	0.221269	0.58480	T	-0.234237	0.16091	T	-0.173996	0.57077	T	0.516865968704224	0.33250	D	0.969003	0.88824	D	0.4861675	0.66273	0.42547098	0.66354	0.4861675	0.66273	0.42547098	0.66354	-8.937	0.76473	D	.	.	0.323	0.54725	B	.;.;.;.;.;.	.;.;.;.;.;.	4.480131	0.69888	25.4	0.99480642334932545	0.66850	0.92964	0.56983	D	AEFBI	0.596313	0.59053	D	0.55681928315905	0.70499	5.510351	0.512280804660294	0.68815	5.272493	0.00254371976395842	0.09519	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.77	3.61	0.40494	3.809000	0.55311	2.854000	0.35159	0.665000	0.62972	1.000000	0.71638	0.999000	0.35428	0.999000	0.91618	0.0:0.0806:0.0:0.9194	9.995	0.41063	911	0.21964	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1035.45	33	chr7	36334095	.	T	A	1035.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.056;DP=302;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.56;ReadPosRankSum=0.108;SOR=0.673	GT:AD:DP:GQ:PL	0/1:72,49:121:99:1046,0,1751	6	0	1	0
chr7	36357346	36357348	AGG	-	exonic	KIAA0895	.	nonframeshift deletion	KIAA0895:NM_001199706:exon2:c.268_270del:p.P90del,KIAA0895:NM_001199707:exon2:c.382_384del:p.P128del,KIAA0895:NM_015314:exon2:c.268_270del:p.P90del,KIAA0895:NM_001100425:exon3:c.421_423del:p.P141del	.	432	1085	4	1	0	6	0.00275735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0	0	2.999e-05	0	0.0016	0.0001876	29	154602	rs777338392	0.0002	0.0002	0.0001	0.0003	0.0024	0.0002	0.0002	0.0021	0.0020	2.987e-05	0	0	0	0	0.0009	5.036e-05	0.0003	0.0024	0.0001	0.0001	8.996e-05	0.0002	0.0027	8.661e-05	7.253e-05	0.0016	0.0013	4.813e-05	0	0	0	0	0	0	7.349e-05	0	0.0027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001007	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.003788	0.07143	2479.42	35	chr7	36357345	.	TAGG	T	2479.42	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.577;DP=308;ExcessHet=0;FS=1.464;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=20.32;ReadPosRankSum=-0.605;SOR=0.869	GT:AD:DP:GQ:PL	0/1:58,64:122:99:2490,0,2227	6	0	1	0
chr7	44757911	44757911	G	A	exonic	ZMIZ2	.	nonsynonymous SNV	ZMIZ2:NM_174929:exon5:c.G616A:p.V206I,ZMIZ2:NM_001300959:exon6:c.G520A:p.V174I,ZMIZ2:NM_031449:exon6:c.G616A:p.V206I	.	.	.	.	.	.	.	.	.	.	.	3357312	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.053	0.00576213108948	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1438883730	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.571e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.145	0.39334	T	0.4	0.15456	T	0.644	0.40509	P	0.287	0.40572	B	0.113831	0.19299	N	0.425439	1	0.08975	N	1.67	0.42885	L	1.56	0.29602	T	-0.28	0.11547	N	0.28	0.31702	-1.0697	0.09479	T	0.060	0.25273	T	10	0.08156583	0.13366	T	0.005762	0.14952	T	0.053	0.14996	0.224	0.14813	0.043077524339	0.03247	0.2509037034801029	0.25004	0.320128586243	0.34224	0.493646562099	0.37944	T	0.013022	0.15597	T	-0.206312	0.19900	T	-0.53413	0.18876	T	0.14852790958378	0.16986	T	0.870213	0.68770	D	0.048043314	0.08311	0.047651604	0.06909	0.048043314	0.08310	0.047651604	0.06908	-5.286	0.39804	T	.	.	0.087	0.11076	B	.;.;.;.;.;.	.;.;.;.;.;.	1.861308	0.23646	16.10	0.98900022115421427	0.48163	0.18189	0.20156	N	AEFDBI	0.105321	0.21047	N	-0.491160887405906	0.22370	1.193991	-0.563762267541268	0.20441	1.101302	0.999835291034619	0.43792	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.68	3.77	0.42499	1.389000	0.34060	2.803000	0.34863	0.676000	0.76740	0.813000	0.29893	0.967000	0.29559	0.992000	0.67800	0.091:0.0:0.73:0.1789	6.742	0.22628	759	0.50631	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1017.44	33	chr7	44757911	.	G	A	1017.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.756;DP=264;ExcessHet=0;FS=0.829;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.11;ReadPosRankSum=-0.676;SOR=0.6	GT:AD:DP:GQ:PL	0/1:37,47:84:99:1028,0,900	6	0	1	0
chr7	44766215	44766215	C	T	exonic	ZMIZ2	.	nonsynonymous SNV	ZMIZ2:NM_174929:exon15:c.C2216T:p.T739M,ZMIZ2:NM_001300959:exon16:c.C2120T:p.T707M,ZMIZ2:NM_031449:exon17:c.C2294T:p.T765M	.	420	1100	2	0	0	2	0.000908265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.0374168177141	0.0032	0.00179712	0.0040	0.0007	0.0017	0	0.0006	0.0065	0.0023	0.0004	0.0038809	600	154602	rs145522270	0.0047	0.0047	0.0049	0.0046	0.0058	0.0046	0.0046	0.0056	0.0056	0.0008	0.0021	0.0007	2.524e-05	0.0018	0.0007	0.0058	0.0034	0.0005	0.0034	0.0034	0.0039	0.0029	0.0060	0.0031	0.0030	0.0055	0.0053	0.0011	0	0.0024	0.0012	0.0002	0.0010	0	0.0060	0.0019	0.0002	0.004	0.68238	D	0.041	0.50514	D	0.993	0.68779	D	0.78	0.63021	P	0.032632	0.25003	N	0.334339	0.999984	0.18198	N	2.175	0.60977	M	1.38	0.34050	T	-1.5	0.37759	N	0.333	0.37405	-0.9065	0.47274	T	0.121	0.42122	T	10	0.0073334873	0.00167	T	0.037417	0.57603	D	0.084	0.24469	.	.	0.0675242888579	0.06100	0.32799165464294694	0.32712	0.938946206287	0.72141	0.43015190959	0.29229	T	0.016657	0.22518	T	-0.499115	0.00578	T	-0.484452	0.23974	T	0.0279656033962965	0.01683	T	0.80082	0.44648	T	0.022889702	0.00984	0.037590984	0.03444	0.022889702	0.00984	0.037590984	0.03443	-3.227	0.12813	T	.	.	0.075	0.09239	B	.;.;.;.;.;.	.;.;.;.;.;.	3.719161	0.53136	23.3	0.99863451428077588	0.94184	0.35390	0.25291	N	AEFBI	0.189968	0.31721	N	0.147538658173564	0.48696	3.07871	0.0192892404207232	0.40610	2.426433	0.99946634495839	0.39843	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.67	4.79	0.60909	1.409000	0.34288	3.287000	0.37275	-0.176000	0.10722	0.005000	0.17040	0.998000	0.33993	0.877000	0.41881	0.2482:0.5464:0.1286:0.0768	4.509	0.11309	745	0.52414	.;.;.;.;.;.	.	.	.	.	rs145522270	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	575.63	34	chr7	44766215	.	C	T	575.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.32;DP=234;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.92;ReadPosRankSum=0.7;SOR=0.716	GT:AD:DP:GQ:PL	0/1:35,23:58:99:586,0,878	6	0	1	0
chr7	45100360	45100360	T	C	exonic	TBRG4	.	nonsynonymous SNV	TBRG4:NM_030900:exon9:c.A1531G:p.M511V,TBRG4:NM_199122:exon9:c.A1531G:p.M511V,TBRG4:NM_001261834:exon11:c.A1894G:p.M632V,TBRG4:NM_004749:exon11:c.A1861G:p.M621V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.00722787610167	0.0036	0.000798722	0.0024	0.0009	0.0007	0	0	0.0041	0	0.0001	0.0024321	376	154602	rs151054640	0.0036	0.0036	0.0037	0.0035	0.0045	0.0035	0.0035	0.0044	0.0044	0.0004	0.0007	0.0003	0	0.0004	0	0.0045	0.0023	4.637e-05	0.0020	0.0020	0.0021	0.0018	0.0035	0.0018	0.0017	0.0031	0.0030	0.0010	0	0.0007	0.0003	0	0.0005	0	0.0035	0.0009	0.0002	0.02	0.49613	D	0.08	0.42086	T	0.009	0.17332	B	0.008	0.21939	B	0.000028	0.55875	D	0.184390	0.999088	0.46032	D	.	.	.	3.09	0.18875	T	-1.21	0.30762	N	0.158	0.27316	-1.0877	0.05925	T	0.026	0.11220	T	10	0.0063584745	0.00144	T	0.007228	0.19171	T	0.042	0.11227	.	.	0.102598925029	0.09809	0.6305731066624733	0.62991	0.25397677232	0.27969	0.412057220936	0.26742	T	0.016135	0.13395	T	-0.477243	0.00768	T	-0.45831	0.26783	T	0.00802068398211263	0.00095	T	0.671933	0.29365	T	0.22509915	0.45164	0.20146555	0.44128	0.22509915	0.45164	0.20146555	0.44127	-8.681	0.65622	D	.	.	0.141	0.31456	B	.;.;.;.	.;.;.;.	2.213000	0.28233	17.73	0.98199079195358785	0.39105	0.95484	0.64904	D	AEFDGBHCI	0.545345	0.55990	D	-0.196145228183853	0.33295	1.887289	-0.013498778564832	0.39105	2.313578	0.999999999953565	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.25	5.25	0.73169	3.628000	0.54000	1.824000	0.29063	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.723000	0.34869	0.0:0.0:0.0:1.0	13.172	0.59026	712	0.56465	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1478.44	33	chr7	45100360	.	T	C	1478.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.3;DP=331;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.02;ReadPosRankSum=0.235;SOR=0.71	GT:AD:DP:GQ:PL	0/1:60,63:123:99:1489,0,1405	6	0	1	0
chr7	47304866	47304866	T	C	exonic	TNS3	.	nonsynonymous SNV	TNS3:NM_022748:exon21:c.A2788G:p.I930V	.	.	.	.	.	.	.	.	.	.	.	3336688	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.197	0.117359035002	.	.	3.641e-05	0	0	0	0	6.261e-05	0	0	2.59e-05	4	154602	rs747449888	1.29e-05	1.368e-05	9.425e-06	1.657e-05	2.042e-05	7.64e-06	6.18e-06	7.3e-06	5.62e-06	0	0	0	0	0	0	1.308e-05	4.01e-05	2.042e-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	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.306542	0.14507	N	0.682222	1	0.08975	N	-0.095	0.04716	N	-2.71	0.90904	D	0.21	0.04776	N	0.055	0.02658	-0.6707	0.61797	T	0.478	0.80022	T	10	0.01872915	0.00410	T	0.117359	0.79710	D	0.197	0.47942	0.21	0.12781	0.196089822672	0.19227	0.128838686184923	0.12808	.	.	0.28546923399	0.08266	T	0.029511	0.21131	T	-0.291352	0.09501	T	-0.473516	0.25137	T	0.0237576864486293	0.01114	T	0.590841	0.21745	T	0.019660562	0.00501	0.029974442	0.01396	0.019660562	0.00501	0.029974442	0.01396	-2.411	0.05201	T	.	.	0.059	0.06159	B	.;.	.;.	-0.924826	0.00884	0.032	0.23255148983520527	0.00974	0.01885	0.05793	N	AEFDGBHI	0.054150	0.09820	N	-1.55764460289193	0.01490	0.06506577	-1.53505201848107	0.02080	0.09515552	0.999999732602144	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.7	-0.507	0.11386	-2.162000	0.01363	-2.057000	0.04278	-0.126000	0.13398	0.000000	0.06391	0.000000	0.08366	0.333000	0.25271	0.0:0.4046:0.0:0.5954	9.933	0.40701	906	0.23090	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.07143	1374.44	34	chr7	47304866	.	T	C	1374.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.586;DP=289;ExcessHet=0;FS=1.619;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.09;ReadPosRankSum=-0.628;SOR=0.499	GT:AD:DP:GQ:PL	0/1:45,60:105:99:1385,0,1038	6	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	.	.	.	.	.	.	.	.	0.5	1400.92	70	chr7	47829596	.	G	C	1400.92	.	AC=7;AF=0.5;AN=14;BaseQRankSum=0.226;DP=584;ExcessHet=14.2834;FS=320.552;MLEAC=6;MLEAF=0.429;MQ=60;MQRankSum=0;QD=2.96;ReadPosRankSum=0.688;SOR=10.536	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:37,34:71:99:.:.:308,0,554:.	0	0	7	0
chr7	50368104	50368104	C	G	exonic	IKZF1	.	nonsynonymous SNV	IKZF1:NM_001291845:exon4:c.C259G:p.L87V	Immunodeficiency, common variable, 13, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00431561606013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	.	.	.	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-0.5	0.15782	N	0.11	0.09631	-0.9997	0.30002	T	0.055	0.23375	T	7	0.043260276	0.03157	T	0.004316	0.10467	T	0.011	0.01250	0.272	0.22210	0.117191471859	0.11215	.	.	.	.	.	.	.	0.054479	0.29735	T	-0.291109	0.09525	T	-0.655934	0.08543	T	0.052731511290539	0.05973	T	0.256674	0.04023	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	0.47294	B	.	.	-1.396602	0.00363	0.007	0.40883805656463257	0.02914	0.00305	0.01619	N	AEFGBIJ	0.028154	0.02430	N	-1.474115124829	0.02034	0.08940394	-1.65084572243601	0.01371	0.06194978	0.999999998577604	0.74766	0.51972	0.21558	0	0.522029	0.08744	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.23	-8.46	0.00822	-2.694000	0.00900	-2.250000	0.03997	-0.184000	0.09925	0.000000	0.06391	0.000000	0.08366	0.068000	0.16518	0.4857:0.2045:0.187:0.1228	2.202	0.03687	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4	315.75	84	chr7	50368104	.	C	G	315.75	.	AC=4;AF=0.4;AN=10;BaseQRankSum=-2.684;DP=728;ExcessHet=3.1439;FS=214.547;MLEAC=5;MLEAF=0.5;MQ=60;MQRankSum=0;QD=0.69;ReadPosRankSum=2.07;SOR=9.94	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:67,19:86:35:0|1:50368103_C_G:35,0,1799:50368103	1	0	4	2
chr7	56078484	56078484	A	G	exonic	SUMF2	.	nonsynonymous SNV	SUMF2:NM_001042470:exon5:c.A545G:p.N182S,SUMF2:NM_001042469:exon7:c.A752G:p.N251S,SUMF2:NM_001146333:exon7:c.A533G:p.N178S,SUMF2:NM_001366647:exon7:c.A752G:p.N251S,SUMF2:NM_001366649:exon7:c.A148G:p.I50V,SUMF2:NM_001042468:exon8:c.A806G:p.N269S,SUMF2:NM_001366648:exon8:c.A797G:p.N266S,SUMF2:NM_015411:exon8:c.A797G:p.N266S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.651	0.175103463631	0.0003	0.000199681	0.0004	0.0001	0.0003	0.0009	0.0007	0.0005	0	0	0.0003622	56	154602	rs185755016	0.0003	0.0003	0.0003	0.0003	0.0007	0.0002	0.0002	0.0004	0.0003	0.0001	9.652e-05	8.21e-05	0.0006	0.0005	0.0007	0.0003	0.0002	0.0002	0.0002	0.0002	0.0002	0.0003	0.0008	0.0002	0.0002	0.0003	0.0002	0.0002	0	0.0003	0	0.0008	0.0003	0	0.0002	0.0005	0.0002	0.067	0.44694	T	0.37	0.59732	T	1.0	0.90584	D	0.998	0.88582	D	.	.	.	.	0.999927	0.81001	D	.	.	.	-3.34	0.93975	D	-2.13	0.53577	N	0.791	0.84298	0.816	0.94605	D	0.834	0.94429	D	9	0.17976138	0.33127	T	0.175103	0.85129	D	0.651	0.86836	.	.	0.985546008383	0.98539	.	.	.	.	.	.	.	0.585405	0.86526	D	-0.173241	0.24746	T	-0.0621581	0.66182	T	0.0336462789917465	0.02578	T	0.988901	0.96613	D	.	.	.	.	.	.	.	.	-7.145	0.55086	T	.	.	0.4	0.60772	A	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.888979	0.56570	23.8	0.99818463006270841	0.90150	0.96970	0.71943	D	AEFDGBCI	0.943744	0.94997	D	0.670747596685034	0.77716	6.728591	0.677780561534023	0.80694	7.356396	0.99999999924756	0.74766	0.722319	0.85440	0	0.702456	0.74545	0	0.643519	0.47002	0	0.735409	0.98432	0	.	.	5.08	5.08	0.68373	8.723000	0.91189	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	14.337	0.66154	628	0.65206	Sulfatase-modifying factor enzyme;Sulfatase-modifying factor enzyme;Sulfatase-modifying factor enzyme;Sulfatase-modifying factor enzyme;Sulfatase-modifying factor enzyme;Sulfatase-modifying factor enzyme;Sulfatase-modifying factor enzyme;Sulfatase-modifying factor enzyme	.	.	.	.	.	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	0.002016	0.005051	0.004076	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	331.46	22	chr7	56078484	.	A	G	331.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.694;DP=214;ExcessHet=0;FS=1.186;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.76;ReadPosRankSum=0.62;SOR=1.041	GT:AD:DP:GQ:PL	0/1:32,17:49:99:342,0,802	6	0	1	0
chr7	72930061	72930061	A	G	exonic	POM121	.	nonsynonymous SNV	POM121:NM_172020:exon6:c.A430G:p.S144G,POM121:NM_001257190:exon8:c.A430G:p.S144G,POM121:NM_001367610:exon9:c.A430G:p.S144G	.	.	.	.	.	.	.	.	.	.	.	3369692	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.067	0.00627789589754	.	.	3.296e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs781870184	2.258e-05	2.257e-05	9.53e-06	3.576e-05	0.0004	1.61e-05	1.417e-05	0.0003	0.0002	0	0	0	0	0	0.0002	0	1.656e-05	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	0.26740	T	0.107	0.54934	T	0.947	0.53479	P	0.674	0.53247	P	0.029790	0.25403	N	0.282075	0.999848	0.20103	N	1.29	0.32370	L	2.71	0.12055	T	-2.27	0.52289	N	0.22	0.25253	-1.0944	0.04839	T	0.063	0.26208	T	10	0.116524935	0.21982	T	0.006278	0.16493	T	0.067	0.19503	0.137	0.04097	0.0666544352282	0.05500	0.13079421439181618	0.13004	.	.	0.448729813099	0.31771	T	0.020297	0.16009	T	-0.49183	0.00635	T	-0.643932	0.09385	T	0.360906213521957	0.27445	T	0.590441	0.49863	T	0.08486098	0.19661	0.08259373	0.18862	0.08486098	0.19661	0.08259373	0.18861	-7.237	0.56017	T	.	.	0.108	0.20391	B	.;.;.;.;.	.;.;.;.;.	3.089071	0.41587	21.4	0.99194947195068273	0.55083	0.63993	0.32264	D	AEFDBCI	0.135488	0.25584	N	0.327864016457068	0.57581	3.926188	0.274751713692664	0.54069	3.57311	0.735760743756117	0.23128	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.1	4.1	0.47196	1.639000	0.36791	9.299000	0.79858	0.407000	0.20612	0.999000	0.42656	1.000000	0.68203	0.758000	0.36073	0.8108:0.1892:0.0:0.0	8.810	0.34124	427	0.81056	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000596	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.004274	0.07143	2937.44	42	chr7	72930061	.	A	G	2937.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.451;DP=462;ExcessHet=0;FS=4.985;MLEAC=1;MLEAF=0.071;MQ=54.73;MQRankSum=-2.134;QD=11.52;ReadPosRankSum=-1.846;SOR=0.711	GT:AD:DP:GQ:PL	0/1:127,128:255:99:2948,0,2934	6	0	1	0
chr7	74519546	74519550	CCACC	-	exonic	GTF2IRD1	.	frameshift deletion	GTF2IRD1:NM_001199207:exon6:c.839_843del:p.A280Vfs*84,GTF2IRD1:NM_005685:exon6:c.743_747del:p.A248Vfs*84,GTF2IRD1:NM_016328:exon6:c.743_747del:p.A248Vfs*84	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	187.45	35	chr7	74519545	.	GCCACC	G	187.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.233;DP=280;ExcessHet=0;FS=39.195;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=1.95;ReadPosRankSum=2.31;SOR=5.67	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,16:96:99:0|1:74519545_GCCACC_G:198,0,3203:74519545	6	0	1	0
chr7	74519550	74519550	-	TTGGG	exonic	GTF2IRD1	.	frameshift insertion	GTF2IRD1:NM_001199207:exon6:c.843_844insTTGGG:p.S282Lfs*39,GTF2IRD1:NM_005685:exon6:c.747_748insTTGGG:p.S250Lfs*39,GTF2IRD1:NM_016328:exon6:c.747_748insTTGGG:p.S250Lfs*39	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	187.59	45	chr7	74519550	.	C	CTTGGG	187.59	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.625;DP=333;ExcessHet=0;FS=39.195;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=1.95;ReadPosRankSum=2.11;SOR=5.67	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,16:96:99:0|1:74519545_GCCACC_G:198,0,3203:74519545	6	0	1	0
chr7	75404941	75404942	CA	-	exonic	TRIM73;TRIM74	.	frameshift deletion	TRIM74:NM_001317815:exon4:c.598_599del:p.T201Pfs*34,TRIM74:NM_198853:exon4:c.598_599del:p.T201Pfs*34,TRIM73:NM_198924:exon4:c.598_599del:p.T201Pfs*34	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0	0	0.0003	0	0	1.29e-05	2	154602	rs1286466349	1.374e-05	1.368e-05	1.366e-05	1.382e-05	0.0002	8.97e-06	7.29e-06	3.782e-05	2.673e-05	0	0	0	0	0	0.0002	9.018e-06	3.337e-05	8.157e-05	1.508e-05	1.337e-05	2.896e-05	0	3.265e-05	2.51e-06	9.4e-07	5.42e-06	2.03e-06	0	0	0	0	0	0	0	3.265e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1981.4	33	chr7	75404940	.	TCA	T	1981.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.898;DP=283;ExcessHet=0;FS=3.182;MLEAC=1;MLEAF=0.071;MQ=33.92;MQRankSum=2.86;QD=21.54;ReadPosRankSum=-0.732;SOR=1.165	GT:AD:DP:GQ:PL	0/1:41,51:92:99:1992,0,1539	6	0	1	0
chr7	75440980	75440980	G	C	exonic	POM121C	.	nonsynonymous SNV	POM121C:NM_001099415:exon5:c.C201G:p.F67L	.	426	1091	5	0	0	5	0.00228624	.	.	.	2338727	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.068	0.00160034460987	0.0008	0.000399361	0.0010	9.612e-05	8.637e-05	0	0.0006	0.0014	0	0.0010	0.0003458	9	26028	rs201581797	0.0007	0.0007	0.0007	0.0008	0.0023	0.0007	0.0007	0.0013	0.0011	0	6.709e-05	0.0010	5.038e-05	0.0003	0.0023	0.0008	0.0005	0.0011	0.0008	0.0008	0.0010	0.0006	0.0015	0.0007	0.0006	0.0013	0.0012	2.406e-05	0	0.0003	0.0006	0	0.0004	0	0.0015	0	0.0006	.	.	.	0.657	0.08134	T	0.022	0.18677	B	0.015	0.17295	B	0.964401	0.07738	N	1.022090	1	0.08975	N	1.245	0.31408	L	.	.	.	.	.	.	0.194	0.25989	-1.0194	0.23910	T	0.022	0.09421	T	10	0.0076721013	0.00174	T	0.002	0.02574	T	.	.	0.279	0.23323	0.0297737177859	0.01360	0.11341304815981385	0.11269	.	.	0.486728549004	0.36985	T	0.016277	0.13483	T	-0.438505	0.01320	T	-0.443192	0.28451	T	0.0120436892255986	0.00190	T	0.608539	0.23687	T	0.10604403	0.25075	0.11791089	0.28463	0.10604403	0.25075	0.11791089	0.28463	-2.071	0.03461	T	.	.	0.362	0.63904	A	.;.	.;.	-0.788438	0.01130	0.052	0.65039823250916484	0.07661	0.05330	0.11183	N	AEFBI	0.055768	0.10256	N	-1.41036187583676	0.02547	0.1126107	-1.55616114730127	0.01934	0.08824471	0.999999187971935	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	4.27	-7.33	0.01284	-1.188000	0.03173	-0.619000	0.08183	-0.147000	0.12262	0.000000	0.06391	0.000000	0.08366	0.562000	0.30459	0.313:0.0:0.687:0.0	14.739	0.69054	912	0.21483	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001773	0.000000	0.001366	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1603.63	33	chr7	75440980	.	G	C	1603.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.076;DP=298;ExcessHet=0;FS=2.426;MLEAC=1;MLEAF=0.071;MQ=47.17;MQRankSum=-2.777;QD=13.94;ReadPosRankSum=1.15;SOR=0.938	GT:AD:DP:GQ:PL	0/1:48,67:115:99:1614,0,1054	6	0	1	0
chr7	75554511	75554511	G	A	exonic	HIP1	.	nonsynonymous SNV	HIP1:NM_001243198:exon20:c.C1979T:p.T660M,HIP1:NM_001382444:exon20:c.C1877T:p.T626M,HIP1:NM_001382445:exon20:c.C1892T:p.T631M,HIP1:NM_005338:exon20:c.C1979T:p.T660M	.	1	1515	6	0	0	6	0.00197628	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.0153552294186	7.7e-05	.	0.0003	0	0	0.0005	0	0.0002	0	0.0009	0.0002199	34	154602	rs200918019	0.0002	0.0002	0.0002	0.0002	0.0021	0.0002	0.0002	0.0012	0.0009	0	2.236e-05	0	0.0004	0	0.0021	0.0002	0.0002	0.0010	0.0001	0.0001	0.0002	9.416e-05	0.0006	8.17e-05	6.726e-05	0.0002	9.896e-05	0	0	0.0001	0	0	0	0	0.0002	0	0.0006	0.025	0.47320	D	0.038	0.55759	D	0.208	0.29916	B	0.111	0.31539	B	0.243850	0.15653	N	0.678176	1	0.08975	N	1.1	0.28011	L	2.82	0.13095	T	-0.1	0.08495	N	0.173	0.23125	-1.0167	0.24787	T	0.015	0.06090	T	10	0.022976846	0.00588	T	0.015355	0.36047	T	0.032	0.07718	.	.	0.117191471859	0.11215	0.37539357960771996	0.37453	0.358169936136	0.37530	0.272308409214	0.06444	T	0.081318	0.36568	T	-0.60718	0.00132	T	-0.701297	0.05755	T	0.0279538958731251	0.01681	T	0.90401	0.66975	D	0.017013725	0.00239	0.0312181	0.01680	0.017013725	0.00239	0.0312181	0.01680	-5.229	0.40591	T	.	.	0.072	0.11893	B	.;.;.	.;.;.	1.982121	0.25182	16.67	0.96958864639654396	0.31771	0.07750	0.13750	N	AEFDBI	0.065269	0.12721	N	-0.87596498889861	0.11416	0.5508061	-0.951658870993519	0.10884	0.5511062	0.972602077563428	0.29385	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.51	-2.96	0.05212	0.391000	0.20511	1.993000	0.30087	0.675000	0.71128	0.228000	0.24622	0.992000	0.31684	0.122000	0.19250	0.1114:0.2384:0.4591:0.1911	3.151	0.06098	856	0.34373	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.005051	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	994.46	35	chr7	75554511	.	G	A	994.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.896;DP=259;ExcessHet=0;FS=3.295;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.62;ReadPosRankSum=-0.037;SOR=0.485	GT:AD:DP:GQ:PL	0/1:29,39:68:99:1005,0,677	6	0	1	0
chr7	78521441	78521441	A	T	exonic	MAGI2	.	nonsynonymous SNV	MAGI2:NM_001301128:exon4:c.T743A:p.V248E,MAGI2:NM_012301:exon4:c.T743A:p.V248E	.	447	1071	3	1	0	5	0.00232883	.	.	.	1510295	Nephrotic_syndrome_15|not_provided|not_specified	MONDO:MONDO:0033262,MedGen:C4539896,OMIM:617609|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.086	0.0112919991677	.	.	9.887e-05	0	0	0	0	0.0001	0	0.0002	7.76e-05	12	154602	rs761048587	6.433e-05	6.43e-05	4.903e-05	7.978e-05	0.0005	5.363e-05	4.978e-05	0.0001	0.0001	0	0	0	0	0	0.0005	5.937e-05	0.0001	0.0002	1.972e-05	1.97e-05	1.285e-05	2.69e-05	0.0002	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0.0002	0.08	0.34095	T	0.696	0.05805	T	0.09	0.25173	B	0.034	0.22546	B	0.926535	0.08451	U	0.942757	0.999314	0.21372	N	0.345	0.11182	N	2.99	0.10291	T	-1.18	0.30762	N	0.335	0.54409	-0.9772	0.35638	T	0.013	0.05273	T	10	0.06418297	0.08475	T	0.011292	0.28764	T	0.086	0.25016	.	.	0.043077524339	0.03247	0.3137999426188536	0.31292	0.406277898275	0.41503	0.339578688145	0.16375	T	0.076184	0.56813	T	-0.37399	0.03397	T	-0.478795	0.24574	T	0.043468868192153	0.04324	T	0.911209	0.72634	D	0.08047314	0.18442	0.12228354	0.29499	0.08047314	0.18442	0.12228354	0.29498	-6.29	0.48642	T	.	.	0.125	0.32054	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	2.232777	0.28505	17.82	0.94549800046332033	0.25065	0.68180	0.33705	D	AEFI	0.258868	0.37732	N	-0.486994988579228	0.22507	1.202228	-0.382748450571532	0.25511	1.403402	0.0417725241918615	0.14498	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.67	3.29	0.36801	2.899000	0.48378	3.404000	0.38147	0.756000	0.94297	0.854000	0.30511	0.397000	0.24692	0.811000	0.38219	0.5928:0.1684:0.2388:0.0	4.205	0.09944	981	0.03995	Guanylate kinase/L-type calcium channel beta subunit;Guanylate kinase/L-type calcium channel beta subunit;.;Guanylate kinase/L-type calcium channel beta subunit;Guanylate kinase/L-type calcium channel beta subunit;Guanylate kinase/L-type calcium channel beta subunit;Guanylate kinase/L-type calcium channel beta subunit;Guanylate kinase/L-type calcium channel beta subunit;.;Guanylate kinase/L-type calcium channel beta subunit;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	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	0.07143	642.83	34	chr7	78521441	.	A	T	642.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.5;DP=219;ExcessHet=0;FS=4.432;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.12;ReadPosRankSum=1.75;SOR=1.41	GT:AD:DP:GQ:PL	0/1:26,23:49:99:653,0,603	6	0	1	0
chr7	80671008	80671008	A	C	exonic	CD36	.	nonsynonymous SNV	CD36:NM_001289908:exon6:c.A733C:p.N245H,CD36:NM_001371080:exon7:c.A385C:p.N129H,CD36:NM_001127444:exon8:c.A850C:p.N284H,CD36:NM_001289909:exon8:c.A670C:p.N224H,CD36:NM_001289911:exon8:c.A622C:p.N208H,CD36:NM_001127443:exon9:c.A850C:p.N284H,CD36:NM_000072:exon10:c.A850C:p.N284H,CD36:NM_001001547:exon10:c.A850C:p.N284H,CD36:NM_001001548:exon10:c.A850C:p.N284H,CD36:NM_001371074:exon10:c.A850C:p.N284H,CD36:NM_001371075:exon10:c.A850C:p.N284H,CD36:NM_001371077:exon10:c.A850C:p.N284H,CD36:NM_001371078:exon10:c.A850C:p.N284H,CD36:NM_001371079:exon10:c.A748C:p.N250H,CD36:NM_001371081:exon10:c.A385C:p.N129H	Platelet glycoprotein IV deficiency, Autosomal recessive	5	1516	1	0	0	1	0.000329707	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.269	0.0367667101625	.	.	8.24e-06	0	0	0	0	0	0	6.058e-05	1.29e-05	2	154602	rs768809508	2.601e-05	2.668e-05	3.133e-05	2.064e-05	3.239e-05	1.933e-05	1.693e-05	2.371e-05	2.104e-05	0	0	0	0	0	0	3.239e-05	1.657e-05	1.16e-05	1.971e-05	1.97e-05	3.854e-05	0	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.039	0.49613	D	0.117	0.39340	T	0.703	0.41913	P	0.54	0.48825	P	0.001109	0.40219	N	0.283599	1	0.21810	N	2.75	0.80375	M	-0.61	0.71779	T	-2.72	0.57920	D	0.357	0.42050	-0.6202	0.63980	T	0.315	0.68504	T	9	0.21077952	0.37483	T	0.036767	0.57199	D	0.269	0.58381	0.4	0.42917	0.130388298395	0.12655	0.7499346495559543	0.74940	3.71968781554E-4	0.00038	0.347700089216	0.17583	T	0.13585	0.46790	T	-0.105591	0.35497	T	-0.292596	0.45501	T	0.786999106407166	0.45494	D	0.889111	0.63379	D	0.482962	0.66080	0.29364994	0.55393	0.482962	0.66080	0.29364994	0.55393	-6.551	0.50678	T	0.3594371646804513	0.45600	0.090	0.12465	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	1.369616	0.17795	13.37	0.99236062075628162	0.56373	0.20315	0.20995	N	AEFCI	0.375547	0.46004	N	-0.646079361111405	0.17574	0.905494	-0.799998878018092	0.14496	0.7576667	0.118817501089885	0.16831	0.638212	0.43195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.668105	0.65232	0	.	.	5.85	-2.72	0.05616	-0.267000	0.08648	-0.404000	0.09391	-0.107000	0.15377	0.000000	0.06391	0.000000	0.08366	0.829000	0.39076	0.379:0.1386:0.4824:0.0	9.664	0.39138	971	0.05719	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	562.45	33	chr7	80671008	.	A	C	562.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.18;DP=215;ExcessHet=0;FS=2.402;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.82;ReadPosRankSum=1.21;SOR=0.36	GT:AD:DP:GQ:PL	0/1:27,25:52:99:573,0,635	6	0	1	0
chr7	80674072	80674075	ACTC	-	exonic	CD36	.	frameshift deletion	CD36:NM_001289908:exon10:c.1227_1230del:p.L410Vfs*5,CD36:NM_001371080:exon11:c.879_882del:p.L294Vfs*5,CD36:NM_001127444:exon12:c.1344_1347del:p.L449Vfs*5,CD36:NM_001289909:exon12:c.1164_1167del:p.L389Vfs*5,CD36:NM_001289911:exon12:c.1116_1119del:p.L373Vfs*5,CD36:NM_001127443:exon13:c.1344_1347del:p.L449Vfs*5,CD36:NM_000072:exon14:c.1344_1347del:p.L449Vfs*5,CD36:NM_001001547:exon14:c.1344_1347del:p.L449Vfs*5,CD36:NM_001001548:exon14:c.1344_1347del:p.L449Vfs*5,CD36:NM_001371074:exon14:c.1344_1347del:p.L449Vfs*5,CD36:NM_001371075:exon14:c.1344_1347del:p.L449Vfs*5,CD36:NM_001371077:exon14:c.1344_1347del:p.L449Vfs*5,CD36:NM_001371078:exon14:c.1344_1347del:p.L449Vfs*5,CD36:NM_001371079:exon14:c.1242_1245del:p.L415Vfs*5,CD36:NM_001371081:exon14:c.879_882del:p.L294Vfs*5	Platelet glycoprotein IV deficiency, Autosomal recessive	2	1518	2	0	0	2	0.000658328	.	.	.	3227212	Platelet-type_bleeding_disorder_10	MONDO:MONDO:0012031,MedGen:C1842090,OMIM:608404	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1261881244	3.429e-06	3.421e-06	4.094e-06	2.757e-06	0.0003	1e-06	7.3e-07	6.105e-05	2.526e-05	0	0	0	0	1.875e-05	0.0003	9.015e-07	1.66e-05	0	6.579e-06	6.568e-06	0	1.347e-05	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1539.23	33	chr7	80674071	.	TACTC	T	1539.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.047;DP=285;ExcessHet=0;FS=1.665;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.39;ReadPosRankSum=-1.002;SOR=0.512	GT:AD:DP:GQ:PL	0/1:58,42:100:99:1549,0,2309	5	0	1	1
chr7	82066526	82066526	-	AA	splicing	CACNA2D1	NM_001366867:exon8:c.659-2->TT;NM_000722:exon8:c.659-2->TT;NM_001302890:exon8:c.659-2->TT	.	.	.	.	.	.	.	.	.	.	.	.	.	1274562	not_specified|not_provided|Cardiovascular_phenotype	MedGen:CN169374|MedGen:C3661900|MedGen:CN230736	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0032	0.0034	0.0009	0.0006	0.0026	0.0034	0.0034	0.0042	0.0001537	4	26028	rs370103843	0.0056	0.0073	0.0056	0.0055	0.0062	0.0055	0.0054	0.0057	0.0056	0.0037	0.0031	0.0020	0.0021	0.0077	0.0039	0.0058	0.0057	0.0062	0.0073	0.0071	0.0069	0.0077	0.0106	0.0069	0.0067	0.0098	0.0095	0.0028	0	0.0048	0	0.0005	0.0204	0	0.0106	0.0124	0.0060	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	406.04	13	chr7	82066526	.	T	TAA	406.04	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.431;DP=116;ExcessHet=6.1542;FS=3.777;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.81;ReadPosRankSum=0;SOR=0.318	GT:AD:DP:GQ:PL	0/1:1,2:3:26:55,0,26	5	0	1	1
chr7	93102964	93102964	C	G	exonic	SAMD9	.	nonsynonymous SNV	SAMD9:NM_001193307:exon2:c.G3134C:p.G1045A,SAMD9:NM_017654:exon3:c.G3134C:p.G1045A	MIRAGE syndrome, Autosomal dominant;Tumoral calcinosis, familial, normophosphatemic, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00364362051594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.739e-06	0.0001	2.726e-06	2.753e-06	2.701e-06	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	3.828e-05	0	0	0	2.701e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.358	0.11994	T	0.365	0.16717	T	0.278	0.32022	B	0.057	0.26280	B	0.038933	0.24228	N	0.350345	0.999403	0.21245	N	1.395	0.35261	L	1.98	0.21865	T	-0.26	0.11185	N	0.172	0.18376	-1.0035	0.28903	T	0.025	0.10866	T	10	0.101587355	0.18570	T	0.003644	0.08371	T	0.019	0.03383	0.111	0.02112	0.462721901306	0.45895	0.30406387633743254	0.30319	0.206316586236	0.23055	0.261323869228	0.05050	T	0.005306	0.11036	T	-0.27156	0.11583	T	-0.627853	0.10578	T	0.260672181844711	0.23344	T	0.427357	0.11519	T	0.026715023	0.01764	0.03884978	0.03847	0.026715023	0.01763	0.03884978	0.03846	-5.641	0.43165	T	0.1164478318514886	0.10529	0.110	0.22135	B	.;.;.	.;.;.	1.711545	0.21796	15.35	0.15711081566189278	0.00394	0.77281	0.37980	D	AEFBI	0.241180	0.36284	N	-0.496248800179662	0.22203	1.183913	-0.415350861612596	0.24546	1.344766	0.0736999754895762	0.15642	0.706298	0.61202	0	0.709663	0.81188	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	4.79	0.721	0.17373	1.167000	0.31456	-0.698000	0.07808	-0.200000	0.08971	0.996000	0.39380	0.000000	0.08366	0.044000	0.14658	0.0:0.4337:0.0:0.5663	8.086	0.29933	806	0.43582	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	622.35	123	chr7	93102964	.	C	G	622.35	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-5.662;DP=901;ExcessHet=3.1439;FS=135.92;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=1.18;ReadPosRankSum=0.134;SOR=9.994	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:115,18:141:25:.:.:25,0,4230:.	2	0	4	1
chr7	93102965	93102965	C	G	exonic	SAMD9	.	nonsynonymous SNV	SAMD9:NM_001193307:exon2:c.G3133C:p.G1045R,SAMD9:NM_017654:exon3:c.G3133C:p.G1045R	MIRAGE syndrome, Autosomal dominant;Tumoral calcinosis, familial, normophosphatemic, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.00358717597943	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.121e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.32610	T	0.086	0.40909	T	0.013	0.16609	B	0.007	0.12992	B	0.038933	0.24228	N	0.350345	0.998976	0.21747	N	2.2	0.62015	M	1.96	0.22270	T	-0.4	0.15782	N	0.133	0.12913	-1.0400	0.17313	T	0.033	0.13986	T	10	0.07416803	0.11303	T	0.003587	0.08216	T	0.038	0.09825	0.132	0.03662	0.251639045875	0.24756	0.3058776317445259	0.30500	0.186022872039	0.20906	0.28491345048	0.08187	T	0.005275	0.11722	T	-0.261545	0.12721	T	-0.613468	0.11704	T	0.236644327640533	0.22264	T	0.470853	0.13943	T	0.04599401	0.07624	0.049176365	0.07460	0.04599401	0.07624	0.049176365	0.07460	-5.327	0.40209	T	0.14989570008231407	0.17564	0.173	0.38025	B	.;.;.	.;.;.	2.737985	0.35852	20.1	0.81866065481440609	0.13900	0.88541	0.48516	D	AEFBI	0.296760	0.40652	N	-1.00286225320604	0.08544	0.4010124	-0.91137622340653	0.11826	0.6048167	0.111460904489544	0.16659	0.706298	0.61202	0	0.709663	0.81188	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	4.79	-0.384	0.11853	2.801000	0.47603	1.030000	0.23473	-1.635000	0.00848	0.985000	0.35982	0.000000	0.08366	0.009000	0.08673	0.0:0.5765:0.1236:0.2999	6.198	0.19775	806	0.43582	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3571	842.65	124	chr7	93102965	.	C	G	842.65	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-4.562;DP=900;ExcessHet=4.7409;FS=139.643;MLEAC=5;MLEAF=0.357;MQ=60;MQRankSum=0;QD=1.18;ReadPosRankSum=0.148;SOR=10.1	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:115,23:142:75:.:.:75,0,4223:.	2	0	5	0
chr7	100175805	100175805	G	C	exonic	GPC2	.	nonsynonymous SNV	GPC2:NM_152742:exon3:c.C415G:p.L139V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.0084618148058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	5.746e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.19293	T	0.264	0.22761	T	0.002	0.09854	B	0.003	0.08700	B	0.011788	0.29400	N	0.319847	0.999984	0.18198	N	1.1	0.28011	L	0.82	0.48142	T	0.09	0.05917	N	0.115	0.10340	-1.0389	0.17648	T	0.045	0.19194	T	10	0.06973243	0.10047	T	0.008462	0.22382	T	0.015	0.02232	0.409	0.44395	0.260249123532	0.25628	0.12418845572528417	0.12344	0.308157786748	0.33120	0.309577137232	0.11843	T	0.086908	0.37827	T	-0.283254	0.10325	T	-0.644651	0.09334	T	0.086081848684672	0.10746	T	0.442656	0.12286	T	0.043123998	0.06666	0.05641909	0.10077	0.043123998	0.06665	0.05641909	0.10077	-4.159	0.26155	T	.	.	0.065	0.01960	B	.	.	1.692672	0.21567	15.25	0.93331368040686369	0.23058	0.23428	0.22073	N	AEFBI	0.121001	0.23544	N	-0.863199556233683	0.11727	0.5675084	-0.716315475991125	0.16555	0.876308	0.999171803000595	0.38651	0.52065	0.21626	1	0.588066	0.40923	0	0.719019	0.79029	0	0.604944	0.38103	0	.	.	5.06	2.18	0.26813	0.676000	0.24927	3.139000	0.36475	-0.186000	0.09761	0.000000	0.06391	1.000000	0.68203	0.968000	0.53726	0.0949:0.3504:0.5547:0.0	7.051	0.24254	285	0.88719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	2724.34	52	chr7	100175805	.	G	C	2724.34	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.575;DP=381;ExcessHet=11.5949;FS=744.254;MLEAC=7;MLEAF=0.583;MQ=60;MQRankSum=0;QD=7.34;ReadPosRankSum=0.751;SOR=9.641	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:45,10:55:99:0|1:100175805_G_C:150,0,1843:100175805	0	0	6	1
chr7	100865320	100865320	C	T	exonic	SLC12A9	.	nonsynonymous SNV	SLC12A9:NM_001267812:exon14:c.C1892T:p.S631L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.190	0.285534433061	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.34095	T	0.03	0.54159	D	.	.	.	.	.	.	.	.	.	.	1	0.24070	N	.	.	.	-2.48	0.89071	D	-1.44	0.35399	N	0.126	0.11912	-0.0870	0.80395	T	0.649	0.87785	D	6	0.13564268	0.25810	T	0.285534	0.90383	D	0.190	0.46781	0.412	0.44887	0.733205772316	0.73082	.	.	.	.	.	.	.	.	.	.	-0.0963921	0.37022	T	-0.376237	0.36161	T	0.0798595895098504	0.09969	T	0.510949	0.16331	T	.	.	.	.	.	.	.	.	-3.098	0.11273	T	.	.	0.136	0.29477	B	.	.	0.378290	0.07505	4.147	0.98465726038271961	0.41791	0.08964	0.14811	N	AEFDGBCI	0.035316	0.04525	N	-0.400857813704382	0.25440	1.380961	-0.565079611142381	0.20406	1.09927	0.999994148883494	0.74766	0.600919	0.35232	0	0.601575	0.49859	0	0.576033	0.28219	0	0.620204	0.46100	0	.	.	2.79	2.79	0.31792	0.592000	0.23685	-0.844000	0.07205	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.019000	0.11356	0.0:1.0:0.0:0.0	9.286	0.36918	706	0.57215	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1512.49	42	chr7	100865320	.	C	T	1512.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.695;DP=326;ExcessHet=0;FS=3.097;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.96;ReadPosRankSum=-0.606;SOR=0.963	GT:AD:DP:GQ:PL	0/1:74,64:138:99:1523,0,1914	6	0	1	0
chr7	100953156	100953156	C	0	exonic	MUC3A	.	.	.	.	685	537	148	21	131	321	0.150316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	2524.47	366	chr7	100953156	.	C	*	2524.47	.	AC=5;AF=0.357;AN=14;BaseQRankSum=5.53;DP=2898;ExcessHet=14.2834;FS=12.235;MLEAC=5;MLEAF=0.357;MQ=57.21;MQRankSum=-14.31;QD=0.88;ReadPosRankSum=-1.217;SOR=1.446	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:383,105:560:99:0|1:100953098_G_C:3256,0,15766:100953098	2	0	5	0
chr7	100953158	100953158	G	0	exonic	MUC3A	.	.	.	.	651	699	39	0	133	172	0.0271399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	1571.47	359	chr7	100953158	.	G	*	1571.47	.	AC=5;AF=0.357;AN=14;BaseQRankSum=3.2;DP=2855;ExcessHet=14.2834;FS=12.608;MLEAC=5;MLEAF=0.357;MQ=57.2;MQRankSum=-14.61;QD=0.57;ReadPosRankSum=-1.192;SOR=1.561	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:386,99:557:99:.:.:2995,0,15910:.	2	0	5	0
chr7	100953494	100953494	C	0	exonic	MUC3A	.	.	.	.	798	546	139	16	23	194	0.135392	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	1169.06	654	chr7	100953494	.	C	*	1169.06	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-1.061;DP=5142;ExcessHet=2.5225;FS=0.783;MLEAC=2;MLEAF=0.143;MQ=57.15;MQRankSum=-6.171;QD=0.47;ReadPosRankSum=-1.281;SOR=0.62	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:830,118:1028:99:.:.:2364,0,35502:.	5	0	2	0
chr7	100953548	100953548	C	T	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C1769T:p.T590I	.	874	413	160	24	51	259	0.201161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1357514460	0.0006	0.0062	0.0004	0.0007	0.0021	0.0005	0.0005	0.0013	0.0010	0.0003	0.0006	0.0002	4.417e-05	0.0005	0.0006	0.0006	0.0004	0.0021	2.746e-05	0.0091	1.343e-05	4.212e-05	0.0004	8.42e-06	5.33e-06	7.232e-05	3.008e-05	0	0	6.811e-05	0	0.0004	9.921e-05	0	0	0	0	.	.	.	0.033	0.53072	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.01421	.	.	.	.	.	.	.	0.117088854	0.22104	T	.	.	.	.	.	.	.	.	.	0.03503252016017476	0.03450	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.347765	0.07665	T	.	.	.	.	.	.	.	.	-7.218	0.55610	T	.	.	0.207	0.43352	B	.;.	.;.	1.622838	0.20726	14.88	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.220000	0.32095	0.001000	0.13291	0.470000	0.21925	0.001000	0.13787	0.000000	0.08366	0.044000	0.14658	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	15407.9	706	chr7	100953548	.	C	T	15407.9	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.57;DP=5761;ExcessHet=8.2628;FS=2.602;MLEAC=2;MLEAF=0.143;MQ=55.46;MQRankSum=-6.569;QD=3.05;ReadPosRankSum=5.42;SOR=0.839	GT:AD:DP:GQ:PL	0/1:854,134:1082:99:3056,0,35456	5	0	2	0
chr7	100994802	100994802	C	A	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.C4239A:p.H1413Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.00734140934622	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.834e-07	1.399e-06	1.979e-06	0	1.331e-06	0	0	.	.	0	0	0	0	0	0	1.331e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.117	0.37037	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.55	0.14455	N	2.72	0.11947	T	-0.88	0.23808	N	0.112	0.09914	-0.9506	0.40868	T	0.012	0.04700	T	6	0.08725843	0.14912	T	0.007341	0.19469	T	0.020	0.03691	0.101	0.01536	0.0138822411134	0.00435	0.004390605146902097	0.00413	.	.	0.529903233051	0.43020	T	0.003189	0.02596	T	-0.355665	0.04381	T	-0.748664	0.03538	T	0.0384845035175874	0.03418	T	0.216778	0.03161	T	0.102228686	0.24153	0.11534091	0.27843	0.102228686	0.24153	0.11534091	0.27842	-6.559	0.50739	T	.	.	0.373	0.63057	A	.;.	.;.	0.227119	0.06087	2.532	0.4400747726754568	0.03353	0.00109	0.00694	N	AEFI	0.026724	0.02056	N	-1.17570136164069	0.05369	0.2445843	-1.36442761523855	0.03639	0.1701449	2.99769686007091E-5	0.03498	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.722	-1.44	0.08391	-0.094000	0.11060	-0.961000	0.06779	0.210000	0.17975	0.000000	0.06391	0.000000	0.08366	0.018000	0.11154	.	.	.	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	.	.	.	.	.	.	.	.	0.07143	707.63	15	chr7	100994802	.	C	A	707.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-5.421;DP=170;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=31.75;MQRankSum=4.26;QD=18.14;ReadPosRankSum=-3.157;SOR=1.096	GT:AD:DP:GQ:PL	0/1:16,23:39:99:718,0,361	6	0	1	0
chr7	100998112	100998112	G	A	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.G7549A:p.V2517I	.	431	1088	3	0	0	3	0.00137678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.0070258105017	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1454828999	2.209e-05	0.0003	2.472e-05	1.939e-05	5.647e-05	1.567e-05	1.36e-05	1.237e-05	1.005e-05	3.226e-05	5.647e-05	8.028e-05	0	0	0	1.894e-05	5.252e-05	2.547e-05	5.673e-05	0.0002	5.522e-05	5.833e-05	0.0007	2.736e-05	2.059e-05	0.0002	9.669e-05	0	0.0012	0.0001	0	0.0002	0	0	1.569e-05	0	0.0007	0.387	0.10945	T	0.572	0.08900	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.55	0.14455	N	2.76	0.11515	T	-0.33	0.12472	N	0.061	0.03283	-0.9646	0.38290	T	0.011	0.04369	T	7	0.035689414	0.01830	T	0.007026	0.18621	T	0.007	0.00512	0.119	0.02647	0.0138822411134	0.00435	0.00380759463186348	0.00356	.	.	0.55989253521	0.47253	T	0.003414	0.02819	T	-0.390759	0.02660	T	-0.799075	0.01925	T	0.0237954057905498	0.01119	T	0.20168	0.02313	T	0.025512444	0.01497	0.023218812	0.00336	0.025512444	0.01497	0.023218812	0.00336	-6.877	0.53129	T	.	.	0.159	0.35056	B	.;.	.;.	0.458451	0.08281	5.028	0.89432922729282938	0.18792	0.00033	0.00296	N	AEFI	0.016540	0.00378	N	-1.34314679815926	0.03197	0.1423888	-1.53405157327845	0.02087	0.095487	2.68971552137606E-5	0.03498	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	1.01	-2.02	0.06981	-1.531000	0.02323	-8.979000	0.00885	0.410000	0.20643	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4192:0.3264:0.2544:0.0	2.166	0.03602	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	.	.	.	.	.	.	.	.	0.07143	442.44	33	chr7	100998112	.	G	A	442.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.23;DP=550;ExcessHet=0;FS=2.793;MLEAC=1;MLEAF=0.071;MQ=28.88;MQRankSum=-1.136;QD=1.6;ReadPosRankSum=0.129;SOR=0.325	GT:AD:DP:GQ:PL	0/1:231,45:276:99:453,0,6033	6	0	1	0
chr7	101002722	101002722	C	A	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.C12159A:p.H4053Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.00614514634947	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.171	0.22746	T	0.188	0.28764	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.43	0.35840	L	2.72	0.11947	T	-1.57	0.37955	N	0.094	0.07398	-0.9327	0.43740	T	0.013	0.05225	T	7	0.09557268	0.17080	T	0.006145	0.16082	T	0.030	0.07022	0.131	0.03577	0.0138822411134	0.00435	0.02791049918264779	0.02741	.	.	0.501397132874	0.39023	T	0.006114	0.05549	T	-0.388542	0.02749	T	-0.79589	0.02007	T	0.0308695474497133	0.02126	T	0.181582	0.01934	T	0.04878349	0.08559	0.058438245	0.10797	0.04878349	0.08559	0.058438245	0.10797	-6.08	0.46944	T	.	.	0.341	0.58089	A	.;.	.;.	1.145877	0.15336	11.77	0.32782102695445381	0.01918	0.00031	0.00285	N	AEFI	0.023590	0.01336	N	-1.1303150760905	0.06110	0.2803858	-1.31506737114718	0.04235	0.1993306	1.67743462375894E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.668	-1.34	0.08665	-0.248000	0.08872	-6.455000	0.01394	-0.669000	0.04307	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.3804:0.6196:0.0:0.0	5.211	0.14641	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	.	.	.	.	.	.	.	.	0.07143	2116.44	52	chr7	101002722	.	C	A	2116.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-10.84;DP=1151;ExcessHet=0;FS=304.112;MLEAC=1;MLEAF=0.071;MQ=36.52;MQRankSum=9.18;QD=9.36;ReadPosRankSum=5.02;SOR=1.176	GT:AD:DP:GQ:PL	0/1:130,96:226:99:2127,0,3556	6	0	1	0
chr7	103566398	103566398	G	A	exonic	RELN	.	stopgain	RELN:NM_005045:exon33:c.C4762T:p.Q1588X,RELN:NM_173054:exon33:c.C4762T:p.Q1588X	Lissencephaly 2 (Norman-Roberts type), Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.94	0.94668	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.622132	0.98769	D	0.655873	0.98747	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;Recessive	High;.;High	10.317290	0.99692	46	0.99813585381247794	0.89708	0.98861	0.87830	D	AEFBI	0.447576	0.50316	N	1.28705984634021	0.99976	36.48506	1.16624944771923	0.99982	37.77415	0.99999994697988	0.74766	0.625279	0.40028	0	0.59043	0.45803	0	0.573888	0.23631	0	0.59522	0.37078	0	.	.	6.08	6.08	0.98982	9.332000	0.96418	11.922000	0.99834	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	20.663	0.99665	891	0.26808	.;.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	659.27	29	chr7	103566398	.	G	A	659.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.77;DP=192;ExcessHet=0;FS=1.206;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.65;ReadPosRankSum=-1.931;SOR=0.446	GT:AD:DP:GQ:PL	0/1:22,23:45:99:669,0,577	5	0	1	1
chr7	105614066	105614066	G	C	exonic	ATXN7L1	.	nonsynonymous SNV	ATXN7L1:NM_138495:exon8:c.C1896G:p.D632E,ATXN7L1:NM_001318229:exon10:c.C1620G:p.D540E,ATXN7L1:NM_001385596:exon10:c.C2268G:p.D756E,ATXN7L1:NM_020725:exon10:c.C2268G:p.D756E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.00424335358371	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.12469	T	1.0	0.02548	T	0.005	0.18474	B	0.004	0.16460	B	0.000132	0.49741	D	0.138750	0.519982	0.31889	D	0.26	0.09897	N	1.61	0.28391	T	-0.19	0.09965	N	0.147	0.15046	-1.0469	0.15274	T	0.041	0.17573	T	10	0.10052198	0.18311	T	0.004243	0.10247	T	0.064	0.18567	0.097	0.01334	0.449283877778	0.44552	0.20088776075350473	0.20005	0.385026323921	0.39793	0.676552057266	0.63775	T	7.73E-4	0.01826	T	-0.215272	0.18644	T	-0.547	0.17614	T	0.663197338581085	0.39037	D	0.756224	0.39120	T	0.07353326	0.16438	0.0722084	0.15551	0.07353326	0.16438	0.0722084	0.15551	-4.221	0.27055	T	.	.	0.124	0.55438	B	.;.;.;.	.;.;.;.	2.105740	0.26793	17.24	0.47757704324101108	0.03930	0.83841	0.42935	D	AEFDBCI	0.391753	0.47007	N	-0.273951466123109	0.30158	1.678963	-0.0533374508611656	0.37345	2.185429	0.998690061336663	0.37477	0.67177	0.52595	0	0.588015	0.36545	0	0.702456	0.68683	0	0.491896	0.07777	0	.	.	5.41	4.33	0.51083	2.710000	0.46837	5.043000	0.46929	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.081:0.0:0.7785:0.1405	9.900	0.40514	921	0.19240	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	38.46	74	chr7	105614066	.	G	C	38.46	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-2.735;DP=509;ExcessHet=0;FS=176.206;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.37;ReadPosRankSum=0.19;SOR=7.824	GT:AD:DP:GQ:PL	0/1:80,25:108:47:47,0,1519	4	0	1	2
chr7	127598439	127598439	G	C	exonic	FSCN3	.	nonsynonymous SNV	FSCN3:NM_020369:exon4:c.G965C:p.R322P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.00956896749899	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.844e-07	6.841e-07	1.362e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166	0.23183	T	0.225	0.25514	T	0.0	0.02946	B	0.002	0.06944	B	0.627930	0.10715	N	0.812162	0.999999	0.08975	N	0.995	0.25082	L	1.57	0.29342	T	0.35	0.03761	N	0.355	0.39659	-1.0109	0.26635	T	0.073	0.29707	T	10	0.10089743	0.18403	T	0.009569	0.25039	T	0.063	0.18251	0.623	0.75803	0.107399877778	0.10242	0.5200535731799519	0.51928	0.10754944395	0.12137	0.282988041639	0.07912	T	3.33E-4	0.00092	T	-0.211192	0.19211	T	-0.541139	0.18185	T	0.054539972017116	0.06281	T	0.471053	0.13966	T	0.13278043	0.30907	0.1916053	0.42628	0.13278043	0.30906	0.1916053	0.42627	-2.566	0.06249	T	.	.	0.120	0.24800	B	.	.	1.605246	0.20515	14.79	0.90543364015383987	0.19799	0.08211	0.14169	N	AEFDGBHCI	0.125967	0.24270	N	-0.977793594818303	0.09080	0.4282402	-1.04065390003293	0.08902	0.4400753	0.999999998816022	0.74766	0.525926	0.21836	0	0.615948	0.52940	0	0.440796	0.06475	0	0.584449	0.35598	0	.	.	5.84	-4.32	0.03433	-0.120000	0.10633	0.158000	0.15372	-0.106000	0.15538	0.026000	0.20160	0.032000	0.21310	0.273000	0.23843	0.4114:0.2255:0.3631:0.0	6.762	0.22735	0	0.99858	Fascin domain|Fascin 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	.	.	.	.	.	.	.	.	0.07143	958.53	33	chr7	127598439	.	G	C	958.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.535;DP=271;ExcessHet=0;FS=0.784;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.88;ReadPosRankSum=-0.759;SOR=0.841	GT:AD:DP:GQ:PL	0/1:54,43:97:99:969,0,1206	6	0	1	0
chr7	128844114	128844114	A	G	exonic	FLNC	.	nonsynonymous SNV	FLNC:NM_001127487:exon20:c.A3040G:p.K1014E,FLNC:NM_001458:exon20:c.A3040G:p.K1014E	Cardiomyopathy, familial hypertrophic;Cardiomyopathy, familial restrictive 5, Autosomal dominant;Myopathy, distal, 4, Autosomal dominant;Myopathy, myofibrillar, 5, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.595	0.115159895014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.173	0.22573	T	0.234	0.24840	T	0.367	0.77913	B	0.309	0.80445	B	0.000000	0.84330	D	0.000000	0.995723	0.42826	D	1.24	0.30952	L	-1.73	0.83327	D	-2.51	0.54546	D	0.503	0.57177	0.173	0.85444	D	0.588	0.85228	D	10	0.46467856	0.59497	T	0.11516	0.79424	D	0.595	0.83911	0.507	0.60232	0.754872398143	0.75265	0.5534318202831529	0.55269	0.863917638796	0.69099	0.797607183456	0.81598	T	0.49746	0.81932	T	0.0750836	0.61460	D	-0.129924	0.60978	T	0.863913416862488	0.51413	D	0.951205	0.81406	D	0.39755908	0.60563	0.32974964	0.58850	0.39755908	0.60563	0.32974964	0.58850	-8.888	0.67264	D	0.12767372463162138	0.13109	0.295	0.52574	B	.;.	.;.	4.158666	0.62440	24.5	0.99774651927863256	0.86174	0.87616	0.47214	D	AEFDBCI	0.511375	0.54003	D	0.257516645814124	0.54012	3.567896	0.307706994432456	0.55992	3.762076	0.999999429044971	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	5.05	5.05	0.67566	2.914000	0.48495	9.413000	0.80714	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.8414:0.1586:0.0:0.0	11.688	0.50760	601	0.67921	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1159.49	35	chr7	128844114	.	A	G	1159.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.578;DP=312;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.66;ReadPosRankSum=-0.261;SOR=0.748	GT:AD:DP:GQ:PL	0/1:70,50:120:99:1170,0,1849	6	0	1	0
chr7	130051235	130051235	C	T	exonic	ZC3HC1	.	nonsynonymous SNV	ZC3HC1:NM_001282190:exon1:c.G23A:p.R8K	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	.	0.0041	0.00319489	0.0013	0.0140	0.0005	0	0	6.018e-05	0.0011	0	0.0011772	182	154602	rs113475467	0.0004	0.0004	0.0005	0.0004	0.0143	0.0004	0.0004	0.0132	0.0128	0.0143	0.0005	0	0	0	0.0005	1.532e-05	0.0013	0.0001	0.0040	0.0040	0.0040	0.0040	0.0136	0.0037	0.0036	0.0127	0.0123	0.0136	0	0.0022	0	0	0	0	4.41e-05	0.0033	0	0.0	0.91255	D	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	1.58	0.29085	T	0.28	0.04233	N	0.124	0.11626	-0.9863	0.33518	T	0.040	0.17106	T	6	0.0036704242	0.00067	T	.	.	.	0.032	0.07718	.	.	0.381409048467	0.37754	.	.	.	.	.	.	.	.	.	.	-0.387935	0.02773	T	-0.317694	0.42827	T	0.077471267119962	0.09660	T	0.29517	0.05454	T	.	.	.	.	.	.	.	.	-3.762	0.20238	T	.	.	0.119	0.24329	B	.	.	0.683006	0.10515	7.228	0.98610574833400499	0.43638	0.01754	0.05521	N	ALL	0.058034	0.10858	N	-0.19313273142002	0.33421	1.896	-0.237736269081461	0.30196	1.698098	0.99999999999995	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.26	-1.46	0.08338	-0.175000	0.09816	-0.735000	0.07644	0.599000	0.40250	0.304000	0.25361	0.007000	0.19602	0.965000	0.52897	0.2408:0.2979:0.2362:0.225	0.538	0.00598	467	0.78285	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.000000	0.07143	1363.49	35	chr7	130051235	.	C	T	1363.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.65;DP=275;ExcessHet=0;FS=1.592;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.5;ReadPosRankSum=0.709;SOR=0.87	GT:AD:DP:GQ:PL	0/1:46,55:101:99:1374,0,983	6	0	1	0
chr7	132385292	132385292	G	C	exonic	PLXNA4	.	nonsynonymous SNV	PLXNA4:NM_001105543:exon4:c.C1375G:p.P459A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00484313753656	.	.	8.415e-06	0	0	0	0	1.508e-05	0	0	6.5e-06	1	154602	rs767146699	4.797e-06	4.788e-06	6.818e-06	2.755e-06	1.167e-05	2e-06	1.28e-06	1.32e-06	9.6e-07	0	0	0	0	0	0	4.5e-06	1.659e-05	1.167e-05	6.566e-06	6.562e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.339	0.12754	T	1.0	0.01155	T	0.001	0.07471	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	.	.	.	4.45	0.02121	T	-0.35	0.12847	N	0.109	0.09490	-0.8966	0.48331	T	0.004	0.01295	T	8	0.043824255	0.03272	T	0.004843	0.12130	T	0.019	0.03383	0.465	0.53566	0.082315109003	0.07666	.	.	.	.	.	.	.	.	.	.	-0.390706	0.02662	T	-0.798999	0.01928	T	0.0284664792401554	0.01756	T	0.246775	0.03632	T	.	.	.	.	.	.	.	.	-3.249	0.13088	T	.	.	0.074	0.05145	B	.	.	-0.492402	0.01892	0.156	0.19164838034394102	0.00635	0.03640	0.08888	N	AEFBI	0.053848	0.09739	N	-1.24402724861257	0.04378	0.1975006	-1.30249583405524	0.04398	0.2073556	0.746131888491269	0.23288	0.475973	0.10046	0	0.59043	0.45803	0	0.547309	0.15389	0	0.528226	0.09195	0	.	.	4.72	-0.697	0.10716	-0.219000	0.09233	-0.458000	0.09056	-0.119000	0.14319	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1759:0.1443:0.3853:0.2945	1.229	0.01821	910	0.22284	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	538.63	20	chr7	132385292	.	G	C	538.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.526;DP=199;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=-1.223;SOR=0.623	GT:AD:DP:GQ:PL	0/1:21,23:44:99:549,0,582	6	0	1	0
chr7	135045566	135045566	C	T	exonic	AGBL3	.	nonsynonymous SNV	AGBL3:NM_001345850:exon5:c.C223T:p.R75W,AGBL3:NM_001345853:exon5:c.C223T:p.R75W,AGBL3:NM_001367814:exon5:c.C223T:p.R75W,AGBL3:NM_001345851:exon6:c.C223T:p.R75W,AGBL3:NM_001345852:exon6:c.C223T:p.R75W,AGBL3:NM_178563:exon10:c.C1720T:p.R574W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.120	0.0200766221207	0.0022	0.00219649	0.0009	0.0079	0	0	0	0	0	0.0003	0.0002393	37	154602	rs12112868	0.0002	0.0002	0.0003	0.0002	0.0071	0.0002	0.0002	0.0063	0.0060	0.0071	0.0004	0	2.8e-05	0	0.0005	3.339e-05	0.0007	0.0002	0.0020	0.0020	0.0021	0.0019	0.0070	0.0018	0.0018	0.0063	0.0060	0.0070	0	0.0007	0	0	0	0	5.882e-05	0.0014	0.0002	0.002	0.72154	D	0.013	0.63109	D	0.997	0.70673	D	0.827	0.59428	P	0.006692	0.31864	N	0.335418	0.539087	0.32039	D	2.395	0.69210	M	1.48	0.31731	T	-4.1	0.74900	D	0.299	0.33796	-0.7260	0.59164	T	0.100	0.37060	T	10	0.0038326979	0.00072	T	0.020077	0.42598	T	0.120	0.33359	.	.	0.229264304666	0.22521	0.486428356344686	0.48562	.	.	0.40850058198	0.26249	T	.	.	.	-0.444966	0.01209	T	-0.408074	0.32447	T	0.0636300485061321	0.07727	T	0.757524	0.38090	T	.	.	.	.	.	.	.	.	-8.968	0.67491	D	.	.	0.220	0.46756	B	.;.	.;.	4.152925	0.62308	24.4	0.99917972673248778	0.98518	0.85597	0.44746	D	AEFI	0.560277	0.56875	D	0.333954005248158	0.57900	3.959202	0.2600046047837	0.53220	3.492083	0.882412649476098	0.25652	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.46	3.56	0.39892	0.712000	0.25450	0.698000	0.20823	0.599000	0.40250	0.010000	0.18352	0.156000	0.23222	0.989000	0.64315	0.3579:0.6421:0.0:0.0	12.313	0.54260	651	0.62880	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1074.44	38	chr7	135045566	.	C	T	1074.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.85;DP=358;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.39;ReadPosRankSum=0.886;SOR=0.629	GT:AD:DP:GQ:PL	0/1:84,44:128:99:1085,0,2093	6	0	1	0
chr7	135189437	135189437	C	A	exonic	WDR91	.	nonsynonymous SNV	WDR91:NM_001362737:exon12:c.G1753T:p.D585Y,WDR91:NM_001362738:exon12:c.G946T:p.D316Y,WDR91:NM_014149:exon12:c.G1675T:p.D559Y,WDR91:NM_001362736:exon13:c.G1732T:p.D578Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.282	0.0363443790237	0.0021	0.00219649	0.0006	0.0067	0.0002	0	0	0	0	6.092e-05	0.0005498	85	154602	rs146344312	0.0002	0.0002	0.0002	0.0002	0.0070	0.0002	0.0002	0.0063	0.0060	0.0070	0.0004	0	0	5.617e-05	0.0003	4.497e-06	0.0005	6.957e-05	0.0020	0.0020	0.0021	0.0019	0.0069	0.0018	0.0017	0.0062	0.0059	0.0069	0	0.0007	0	0	0	0	1.47e-05	0.0014	0	0.006	0.61437	D	0.008	0.72224	D	0.986	0.61523	D	0.915	0.65091	D	0.000007	0.62929	D	0.142021	0.999997	0.58761	D	1.19	0.30124	L	0.33	0.66834	T	-3.22	0.64939	D	0.532	0.56058	-0.3274	0.74209	T	0.298	0.66961	T	10	0.010089695	0.00226	T	0.036344	0.56932	D	0.282	0.59981	.	.	0.710967495745	0.70844	0.27787263572339094	0.27700	1.06277919278	0.76532	0.593787968159	0.52029	T	0.069047	0.60502	T	-0.244337	0.14801	T	-0.120163	0.61788	T	0.0586754524251119	0.06957	T	0.948805	0.80311	D	0.75857735	0.81369	0.43471125	0.66982	0.75857735	0.81371	0.43471125	0.66982	-12.47	0.87064	D	.	.	0.176	0.38426	B	.;.	.;.	5.467546	0.91239	32	0.99477054750918037	0.66687	0.96765	0.70819	D	AEFBCI	0.867755	0.78764	D	0.682561578307833	0.78491	6.882123	0.679972896311771	0.80863	7.393772	0.999999999999995	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.62	4.62	0.56946	7.660000	0.82762	7.674000	0.64943	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	18.014	0.89155	489	0.76795	WD40-repeat-containing domain;WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	918.46	33	chr7	135189437	.	C	A	918.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.918;DP=235;ExcessHet=0;FS=3.824;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.57;ReadPosRankSum=-0.887;SOR=0.492	GT:AD:DP:GQ:PL	0/1:21,38:59:99:929,0,458	6	0	1	0
chr7	138918668	138918668	C	T	exonic	KIAA1549	.	nonsynonymous SNV	KIAA1549:NM_001164665:exon2:c.G958A:p.D320N,KIAA1549:NM_020910:exon2:c.G958A:p.D320N	.	427	1092	3	0	0	3	0.00137174	.	.	.	735985	not_provided|Retinitis_pigmentosa_86	MedGen:C3661900|MONDO:MONDO:0032834,MedGen:C5231428,OMIM:618613	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.118	.	0.0095	0.0101837	0.0030	0.0344	0.0015	0	0	9.01e-05	0.0033	6.058e-05	0.0028848	446	154602	rs61978615	0.0011	0.0011	0.0012	0.0009	0.0349	0.0010	0.0010	0.0332	0.0326	0.0349	0.0020	0	0	0	0.0029	0.0001	0.0027	6.956e-05	0.0100	0.0100	0.0106	0.0093	0.0344	0.0096	0.0094	0.0329	0.0323	0.0344	0	0.0041	0	0	0	0.0204	0.0001	0.0071	0.0002	0.007	0.61437	D	0.172	0.30339	T	0.728	0.42542	P	0.294	0.40804	B	0.660225	0.10434	N	0.819182	1	0.08975	N	1.59	0.40313	L	1.67	0.27331	T	-1.54	0.37375	N	0.274	0.37509	-1.0998	0.04116	T	0.015	0.06282	T	10	0.0029546022	0.00048	T	.	.	.	0.118	0.32913	.	.	0.0934897674506	0.08844	0.23551674829080116	0.23466	0.262930831801	0.28855	0.26308837533	0.05263	T	0.017759	0.14435	T	-0.654922	0.00068	T	-0.687067	0.06561	T	0.0231328903208934	0.01039	T	0.50065	0.15660	T	0.07802156	0.17744	0.07310725	0.15848	0.08563411	0.19870	0.07698035	0.17103	-4.271	0.27768	T	.	.	0.100	0.17189	B	.;.	.;.	1.552456	0.19892	14.49	0.99727138347667965	0.82477	0.38723	0.26052	N	AEFBI	0.105446	0.21069	N	-0.451147647173454	0.23700	1.274627	-0.505783030518253	0.21996	1.192564	0.725896491144352	0.22987	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.43	3.53	0.39533	2.973000	0.48956	0.973000	0.23072	0.599000	0.40250	0.018000	0.19461	0.002000	0.18203	0.665000	0.33109	0.0:0.821:0.179:0.0	11.648	0.50529	550	0.72197	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.010574	0.005051	0.020380	0.011696	0.000000	0.000000	0.000000	0.003788	0.07143	1847.44	43	chr7	138918668	.	C	T	1847.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.11;DP=397;ExcessHet=0;FS=1.908;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.04;ReadPosRankSum=0.21;SOR=0.552	GT:AD:DP:GQ:PL	0/1:106,78:184:99:1858,0,2604	6	0	1	0
chr7	142071047	142071047	C	A	exonic	MGAM	.	nonsynonymous SNV	MGAM:NM_001365693:exon44:c.C5115A:p.D1705E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.00109310935119	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.091e-07	6.986e-07	0	1.425e-06	1.182e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.182e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.30097	T	0.236	0.24694	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	-1.86	0.43524	N	0.174	0.18649	-1.0280	0.21103	T	0.061	0.25528	T	5	0.161971	0.30368	T	0.001093	0.01287	T	0.061	0.17616	0.636	0.77251	0.370424759081	0.36655	.	.	.	.	.	.	.	.	.	.	-0.293401	0.09297	T	-0.659226	0.08319	T	0.0778808118809668	0.09714	T	0.737626	0.35462	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.23290	B	.	.	1.020081	0.13998	10.56	0.96028686533489516	0.28497	0.15997	0.19182	N	AEFGI	0.237412	0.35970	N	-0.466239565946096	0.23193	1.243749	-0.536314488460948	0.21170	1.143978	0.0316321758346684	0.14013	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.89	1.94	0.25058	-2.328000	0.01193	.	.	0.328000	0.19510	0.000000	0.06391	0.000000	0.08366	0.679000	0.33513	0.0:0.5798:0.1988:0.2213	4.462	0.11092	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	890.27	27	chr7	142071047	.	C	A	890.27	.	AC=2;AF=0.143;AN=14;DP=204;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=59.19;QD=30.7;SOR=0.906	GT:AD:DP:GQ:PL	1/1:0,29:29:87:911,87,0	6	1	0	0
chr7	143222124	143222124	T	C	exonic	TAS2R40	.	nonsynonymous SNV	TAS2R40:NM_176882:exon1:c.T46C:p.F16L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.00384408953037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.33091	T	0.127	0.35082	T	0.005	0.12996	B	0.011	0.15521	B	0.544426	0.11502	U	0.734359	1	0.08975	N	1.135	0.28956	L	1.23	0.36872	T	-0.42	0.14193	N	0.1	0.08227	-0.9929	0.31853	T	0.034	0.14683	T	10	0.0717769	0.10627	T	0.003844	0.08992	T	0.073	0.21317	0.505	0.59924	0.130388298395	0.12655	0.21878284822064326	0.21794	0.138311207975	0.15596	0.396091401577	0.24525	T	0.00115	0.00660	T	-0.302923	0.08386	T	-0.672905	0.07424	T	0.0550062544643879	0.06357	T	0.355964	0.08087	T	0.066289976	0.14247	0.049054414	0.07414	0.066289976	0.14247	0.049054414	0.07414	-2.649	0.06885	T	.	.	0.414	0.60367	A	.	.	0.580512	0.09490	6.268	0.78947587317010115	0.12523	0.05297	0.11143	N	AEFBI	0.034375	0.04245	N	-1.17155969987232	0.05435	0.2477336	-1.15801875715919	0.06625	0.3195216	0.999601990964049	0.40866	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.76	0.653	0.17000	-0.212000	0.09323	-0.243000	0.10574	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.2455:0.188:0.5665	3.712	0.07951	867	0.32089	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1374.44	35	chr7	143222124	.	T	C	1374.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.79;DP=287;ExcessHet=0;FS=4.144;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.17;ReadPosRankSum=-0.458;SOR=1.203	GT:AD:DP:GQ:PL	0/1:49,48:97:99:1385,0,1230	6	0	1	0
chr7	151064613	151064613	C	T	exonic	SLC4A2	.	nonsynonymous SNV	SLC4A2:NM_001199693:exon3:c.C278T:p.P93L,SLC4A2:NM_001199694:exon3:c.C263T:p.P88L,SLC4A2:NM_001199692:exon4:c.C305T:p.P102L,SLC4A2:NM_003040:exon4:c.C305T:p.P102L	.	409	1093	20	0	0	20	0.00906618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.0715997310659	0.0006	0.000399361	0.0010	9.837e-05	0.0020	0	0	0.0012	0.0034	0.0008	0.0009767	151	154602	rs146857685	0.0008	0.0008	0.0008	0.0008	0.0256	0.0008	0.0007	0.0221	0.0208	0.0005	0.0021	0.0029	0	1.874e-05	0.0256	0.0006	0.0017	0.0008	0.0010	0.0010	0.0010	0.0010	0.0031	0.0009	0.0008	0.0024	0.0021	0.0002	0	0.0031	0.0026	0	0	0.0102	0.0011	0.0038	0.0004	0.024	0.48642	D	0.221	0.25827	T	0.002	0.12183	B	0.004	0.14300	B	0.050366	0.23077	N	0.478491	0.920733	0.28346	N	1.1	0.28011	L	0.97	0.74053	T	-2.49	0.54217	N	0.241	0.27197	-0.7624	0.57275	T	0.245	0.61436	T	10	0.008913398	0.00202	T	0.072	0.71312	D	0.057	0.16321	.	.	0.464188422262	0.46044	0.20815250473220942	0.20731	0.514846979107	0.49409	0.524394869804	0.42245	T	0.023173	0.32031	T	-0.403854	0.02184	T	-0.366115	0.37344	T	0.00974501270101722	0.00128	T	0.80202	0.44827	T	0.044927947	0.07265	0.035186734	0.02724	0.044927947	0.07265	0.035186734	0.02724	-4.828	0.34916	T	.	.	0.079	0.14201	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.152937	0.27425	17.46	0.98031118972330555	0.37712	0.55553	0.29893	D	AEFBHCI	0.258834	0.37730	N	-0.493822471254174	0.22282	1.188729	-0.42324928924823	0.24317	1.330918	0.999998137556417	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.76	2.91	0.32903	0.580000	0.23505	2.161000	0.30982	0.599000	0.40250	0.000000	0.06391	0.076000	0.22303	0.802000	0.37819	0.191:0.7103:0.0:0.0987	5.739	0.17353	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	0.020141	0.000000	0.025815	0.049708	0.000000	0.025862	0.015244	0.003788	0.08333	404.27	19	chr7	151064613	.	C	T	404.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.89;DP=203;ExcessHet=0;FS=1.234;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.37;ReadPosRankSum=-1.141;SOR=0.916	GT:AD:DP:GQ:PL	0/1:24,15:39:99:414,0,589	5	0	1	1
chr7	151235592	151235592	G	A	exonic	CHPF2	.	nonsynonymous SNV	CHPF2:NM_019015:exon2:c.G808A:p.G270S,CHPF2:NM_001284295:exon3:c.G784A:p.G262S	.	424	1089	9	0	0	9	0.00411523	.	.	.	2193989	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.076	0.00414915425767	7.7e-05	0.000399361	0.0002	0	0.0007	0	0	0.0003	0	6.495e-05	0.0002652	41	154602	rs199940789	0.0003	0.0003	0.0003	0.0003	0.0047	0.0003	0.0002	0.0033	0.0028	0.0002	0.0013	3.833e-05	0	0	0.0047	0.0002	0.0005	5.801e-05	0.0004	0.0004	0.0004	0.0004	0.0014	0.0003	0.0003	0.0009	0.0008	0.0002	0	0.0014	0	0	0	0	0.0004	0.0009	0	0.385	0.12345	T	0.868	0.03333	T	0.128	0.29559	B	0.024	0.23607	B	0.000002	0.62929	D	0.133823	0.992651	0.41705	D	0	0.06538	N	2.4	0.15608	T	0.91	0.01664	N	0.185	0.20129	-1.0363	0.18450	T	0.018	0.07612	T	10	0.050321728	0.04748	T	0.004149	0.09963	T	0.076	0.22200	.	.	0.439870908748	0.43606	0.5032015314051332	0.50242	0.148960912717	0.16796	0.483740001917	0.36571	T	0.024153	0.18307	T	-0.539205	0.00339	T	-0.58784	0.13854	T	0.0391228851729626	0.03532	T	0.864713	0.56210	D	0.068375036	0.14889	0.113772534	0.27459	0.068375036	0.14889	0.113772534	0.27458	-3.003	0.10213	T	.	.	0.068	0.03301	B	.;.	.;.	2.667021	0.34762	19.72	0.99237439195119026	0.56437	0.82965	0.42126	D	AEFDBCI	0.307132	0.41409	N	-0.276482821968904	0.30060	1.672587	-0.0127666393771082	0.39137	2.31601	0.999999989741376	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.85	5.85	0.93663	2.588000	0.45802	8.527000	0.77443	0.676000	0.76740	0.996000	0.39380	1.000000	0.68203	0.975000	0.56047	0.0726:0.0:0.9274:0.0	14.341	0.66184	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	0.008560	0.000000	0.009511	0.026316	0.000000	0.008621	0.000000	0.000000	0.07143	1136.63	38	chr7	151235592	.	G	A	1136.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.02;DP=252;ExcessHet=0;FS=2.035;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.79;ReadPosRankSum=1.13;SOR=0.473	GT:AD:DP:GQ:PL	0/1:32,40:72:99:1147,0,857	6	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	0.4286	4870.49	184	chr7	152229940	.	A	G	4870.49	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-0.631;DP=1690;ExcessHet=8.2628;FS=0;MLEAC=6;MLEAF=0.429;MQ=44.63;MQRankSum=0.809;QD=2.95;ReadPosRankSum=0.174;SOR=0.69	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:193,112:305:99:.:.:1906,0,5975:.	1	0	6	0
chr7	152235831	152235831	C	G	exonic	KMT2C	.	nonsynonymous SNV	KMT2C:NM_170606:exon16:c.G2755C:p.V919L	.	523	804	188	7	0	202	0.111602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	.	.	.	0.3064	0.3892	0.3854	0.3769	0.3614	0.2662	0.3017	0.2987	0.0009221	24	26028	rs111791757	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.465	0.08609	T	.	.	.	0.005	0.12996	B	0.006	0.12133	B	0.000997	0.40743	D	0.000000	0.909796	0.27531	N	1.04	0.26193	L	-1.76	0.83578	D	-0.87	0.23590	N	0.351	0.39254	-0.7817	0.56206	T	0.290	0.66182	T	10	0.001721412	0.00022	T	.	.	.	0.190	0.46781	.	.	.	.	0.3939079229526045	0.39305	1.16460324479	0.79582	0.551522254944	0.46072	T	0.082871	0.36927	T	-0.0536841	0.43886	T	-0.31489	0.43132	T	0.00291439180401243	0.00030	T	0.782522	0.41827	T	0.11401484	0.26920	0.058207095	0.10716	0.11401484	0.26920	0.058207095	0.10716	-2.714	0.07421	T	0.21301624123496365	0.28594	0.155	0.34361	B	.;.	.;.	2.476867	0.31934	18.89	0.93460886301440382	0.23247	0.88481	0.48429	D	AEFBI	0.274499	0.38967	N	-0.471234561374049	0.23027	1.233672	-0.289425091573026	0.28446	1.586133	2.17144164743047E-4	0.05997	0.736574	0.97449	0	0.732669	0.95671	0	0.601832	0.32385	0	0.756605	0.99741	0	.	.	5.0	3.05	0.34272	0.914000	0.28246	0.910000	0.22619	0.549000	0.26987	0.989000	0.36753	0.340000	0.24418	0.997000	0.79791	0.0:0.6447:0.2767:0.0786	9.075	0.35674	934	0.15400	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.351197	0.253086	0.383562	0.346491	0.125000	0.394737	0.307692	0.388000	0.2143	199.27	46	chr7	152235831	.	C	G	199.27	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-0.021;DP=450;ExcessHet=1.1394;FS=5.166;MLEAC=2;MLEAF=0.143;MQ=50.69;MQRankSum=-2.132;QD=0.97;ReadPosRankSum=-2.276;SOR=1.27	GT:AD:DP:GQ:PL	0/1:65,12:77:99:115,0,2501	4	0	3	0
chr8	9140870	9140870	C	A	exonic	PPP1R3B	.	nonsynonymous SNV	PPP1R3B:NM_001201329:exon2:c.G782T:p.S261I,PPP1R3B:NM_024607:exon2:c.G782T:p.S261I	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.493	0.077745923414	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.005	0.72224	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.955	0.85029	M	0.68	0.51952	T	-4.02	0.74269	D	0.858	0.92784	-0.4758	0.69519	T	0.319	0.68865	T	10	0.85666	0.84865	D	0.077746	0.72844	D	0.493	0.77910	0.477	0.55502	0.831339944051	0.82973	0.9039392264418845	0.90366	0.314215289749	0.33704	0.558497071266	0.47055	T	0.410217	0.76502	T	0.185477	0.72547	D	0.0286488	0.72191	D	0.996704518795013	0.89904	D	.	.	.	0.7429689	0.80462	0.6377731	0.78847	0.7429689	0.80464	0.6377731	0.78848	-6.267	0.48461	T	.	.	0.621	0.69975	P	.;.	.;.	4.470333	0.69653	25.4	0.99669946110658747	0.78523	0.97906	0.78023	D	AEFBCI	0.924131	0.90167	D	0.87300757571269	0.90377	10.37607	0.87139304873432	0.94201	12.57968	0.999999999999998	0.74766	0.722319	0.85440	0	0.53679	0.11191	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.93	5.93	0.95888	7.876000	0.85623	7.648000	0.63548	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:1.0:0.0:0.0	19.332	0.94280	942	0.12992	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1718.49	34	chr8	9140870	.	C	A	1718.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.57;DP=348;ExcessHet=0;FS=0.689;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.75;ReadPosRankSum=2.73;SOR=0.807	GT:AD:DP:GQ:PL	0/1:63,62:125:99:1729,0,1481	6	0	1	0
chr8	10610866	10610866	G	A	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.C3232T:p.R1078W	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3188315	Retinal_dystrophy	Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.318	0.447397678981	8.4e-05	0.000199681	0.0001	0	0.0002	0.0011	0	0	0	0.0001	9.7e-05	15	154602	rs200718720	5.495e-05	5.472e-05	5.052e-05	5.943e-05	0.0008	4.495e-05	4.164e-05	0.0006	0.0005	9.009e-05	0.0002	0	0.0008	0	0.0003	1.894e-05	4.996e-05	9.294e-05	0.0001	0.0001	6.427e-05	0.0002	0.0017	7.575e-05	6.28e-05	0.0009	0.0007	4.814e-05	0	0.0003	0	0.0017	0	0	1.47e-05	0.0005	0	0.001	0.78490	D	0.005	0.72224	D	.	.	.	.	.	.	0.451406	0.12503	N	0.653518	1	0.08975	N	1.955	0.52871	M	-1.04	0.76561	T	-3.07	0.63207	D	0.285	0.32259	-0.6679	0.61923	T	0.397	0.74923	T	10	0.11803058	0.22304	T	0.447398	0.94278	D	0.318	0.64008	.	.	0.620635632974	0.61756	0.05956671973931542	0.05896	.	.	0.329143106937	0.14805	T	0.260964	0.63239	T	-0.288961	0.09741	T	-0.223227	0.52425	T	0.175632200864151	0.18955	T	0.635136	0.24942	T	0.092479765	0.21697	0.08565338	0.19791	0.092479765	0.21697	0.08565338	0.19791	-6.305	0.48762	T	0.5202646219223568	0.59265	0.184	0.39832	B	.	.	2.461332	0.31708	18.82	0.99816813720521125	0.89973	0.07301	0.13323	N	AEFDBI	0.116153	0.22807	N	-0.363667714277517	0.26773	1.463741	-0.571207630978834	0.20245	1.089867	8.46726642096835E-5	0.04703	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	4.65	0.546	0.16386	0.595000	0.23729	-0.119000	0.11742	-0.288000	0.06323	0.001000	0.13787	0.000000	0.08366	0.008000	0.08271	0.1543:0.0:0.4042:0.4415	5.661	0.16945	793	0.45818	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	382.83	20	chr8	10610866	.	G	A	382.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.61;DP=191;ExcessHet=0;FS=4.824;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.07;ReadPosRankSum=1.71;SOR=1.516	GT:AD:DP:GQ:PL	0/1:24,14:38:99:393,0,645	6	0	1	0
chr8	22616178	22616178	A	G	exonic	CCAR2	.	nonsynonymous SNV	CCAR2:NM_001363068:exon14:c.A1775G:p.E592G,CCAR2:NM_001363069:exon14:c.A1775G:p.E592G,CCAR2:NM_021174:exon14:c.A1775G:p.E592G	.	.	.	.	.	.	.	.	.	.	.	2718024	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.053	0.00968517890473	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	0.0003	2.3e-07	9e-08	6.121e-05	2.532e-05	0	0	0	0	0	0.0003	0	0	0	6.572e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.04	0.43708	D	0.331	0.20680	T	0.993	0.73220	D	0.88	0.69900	P	0.001463	0.38917	N	0.222000	0.946295	0.37522	D	1.59	0.40313	L	1.31	0.35590	T	-1.69	0.40274	N	0.341	0.40465	-0.8977	0.48224	T	0.133	0.44544	T	10	0.143569	0.27256	T	0.009685	0.25290	T	0.116	0.32463	0.15	0.05339	0.366479799498	0.36264	0.16753153353441064	0.16673	0.231541109432	0.25707	0.422649532557	0.28201	T	0.210339	0.57081	T	0.0243322	0.54962	T	-0.202825	0.54377	T	0.806934833526611	0.46832	D	0.730127	0.37198	T	0.1329791	0.30946	0.16923718	0.38942	0.1329791	0.30946	0.16923718	0.38941	-7.926	0.60565	D	.	.	0.078	0.08129	B	.;.;.;.	.;.;.;.	4.142517	0.62078	24.4	0.99910607130982099	0.98022	0.93573	0.58587	D	AEFGBCI	0.609545	0.59871	D	0.235187305652622	0.52910	3.462485	0.360204268652242	0.59126	4.087784	0.999999985108291	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.54	5.54	0.82907	2.515000	0.45172	8.984000	0.78497	0.756000	0.94297	0.993000	0.37899	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	13.680	0.61959	905	0.23532	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	593.53	35	chr8	22616178	.	A	G	593.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.238;DP=241;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.42;ReadPosRankSum=-0.475;SOR=0.723	GT:AD:DP:GQ:PL	0/1:37,26:63:99:604,0,999	6	0	1	0
chr8	25506827	25506827	C	T	exonic	CDCA2	.	nonsynonymous SNV	CDCA2:NM_001317906:exon14:c.C2116T:p.R706C,CDCA2:NM_152562:exon15:c.C2161T:p.R721C	.	.	.	.	.	.	.	.	.	.	.	3425214	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.022	0.0129548661692	0.0010	0.000599042	0.0007	0.0020	0.0004	0	0.0002	0.0007	0.0045	0.0004	0.0006145	95	154602	rs73550864	0.0004	0.0004	0.0003	0.0004	0.0035	0.0003	0.0003	0.0023	0.0019	0.0016	0.0003	0.0018	0	9.365e-05	0.0035	0.0003	0.0009	0.0005	0.0005	0.0005	0.0006	0.0004	0.0009	0.0004	0.0004	0.0007	0.0006	0.0009	0	0.0003	0.0012	0	0	0	0.0003	0.0014	0.0006	0.096	0.31834	T	0.138	0.34716	T	0.067	0.23653	B	0.006	0.12133	B	0.511513	0.05149	N	1.257310	1	0.08975	N	0	0.06538	N	1.47	0.31987	T	-1.56	0.37759	N	0.053	0.03175	-1.0224	0.22932	T	0.040	0.17020	T	10	0.0053226054	0.00117	T	0.012955	0.31963	T	0.022	0.04323	.	.	0.344251166708	0.34027	0.20876414522789727	0.20792	0.138224808436	0.15579	0.20507876575	0.00619	T	0.005638	0.11803	T	-0.587662	0.00173	T	-0.652291	0.08794	T	0.00884091737204419	0.00109	T	0.653235	0.26349	T	0.08120971	0.18648	0.042235732	0.04983	0.08120971	0.18648	0.042235732	0.04983	-4.02	0.24102	T	.	.	0.094	0.21803	B	.;.	.;.	1.360468	0.17692	13.31	0.67294041449480724	0.08312	0.03567	0.08776	N	AEFBI	0.081223	0.16433	N	-0.939428263997108	0.09931	0.4722732	-0.923687729686735	0.11535	0.5882812	0.999733814309829	0.42341	0.732398	0.92422	0	0.724815	0.89359	0	0.688494	0.62686	0	0.727631	0.95156	0	.	.	5.07	1.87	0.24559	0.207000	0.17194	-0.002000	0.13189	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.066000	0.16387	0.0:0.4885:0.3913:0.1202	5.931	0.18375	925	0.17918	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006042	0.000000	0.013587	0.002924	0.000000	0.000000	0.003049	0.000000	0.08333	808.27	35	chr8	25506827	.	C	T	808.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.23;DP=232;ExcessHet=0;FS=5.105;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.25;ReadPosRankSum=-1.234;SOR=0.535	GT:AD:DP:GQ:PL	0/1:31,30:61:99:818,0,749	5	0	1	1
chr8	38105674	38105674	C	T	exonic	ASH2L	.	nonsynonymous SNV	ASH2L:NM_004674:exon1:c.C124T:p.P42S	.	387	1126	9	0	0	9	0.00398054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.0218130502301	7.7e-05	.	0.0002	0	9.094e-05	0	0	5.083e-05	0	0.0013	0.0001488	23	154602	rs367605367	7.031e-05	7.319e-05	4.702e-05	9.391e-05	0.0010	5.881e-05	5.486e-05	0.0005	0.0004	0	0.0004	4.103e-05	0	0	0.0010	1.726e-05	0.0001	0.0006	0.0001	0.0001	0.0001	0.0001	0.0007	8.665e-05	7.257e-05	0.0004	0.0003	2.412e-05	0	0.0007	0.0003	0	0	0	7.349e-05	0.0010	0.0002	0.075	0.41915	T	0.227	0.25362	T	0.075	0.24198	B	0.027	0.21085	B	0.340980	0.13964	N	0.710208	0.999383	0.46865	D	1.245	0.31408	L	-0.02	0.62918	T	-0.48	0.15379	N	0.114	0.10198	-0.9991	0.30171	T	0.138	0.45545	T	10	0.019585103	0.00439	T	0.021813	0.44628	T	0.039	0.10176	.	.	0.284112513307	0.28011	0.2041916935709072	0.20336	0.0113752822125	0.01063	0.542414963245	0.44786	T	0.116386	0.43569	T	-0.390668	0.02663	T	-0.420674	0.30999	T	0.0432792604497326	0.04289	T	0.671933	0.28057	T	0.057558633	0.11469	0.12123233	0.29251	0.057377696	0.11411	0.11232863	0.27102	-3.668	0.18847	T	.	.	0.058	0.05060	B	.;.	.;.	2.083031	0.26494	17.14	0.99858047024745122	0.93639	0.18120	0.20128	N	ALL	0.070839	0.14078	N	-0.71952635335122	0.15473	0.7801015	-0.689708336030547	0.17217	0.9145062	0.999999999999968	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.94	4.07	0.46726	1.286000	0.32877	0.163000	0.15428	0.599000	0.40250	0.019000	0.19563	0.001000	0.17328	0.006000	0.07323	0.0:0.9018:0.0:0.0982	9.597	0.38743	172	0.93355	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	465.27	36	chr8	38105674	.	C	T	465.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.516;DP=213;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.57;ReadPosRankSum=-0.235;SOR=0.54	GT:AD:DP:GQ:PL	0/1:22,22:44:99:475,0,604	5	0	1	1
chr8	55102982	55102982	G	A	exonic	XKR4	.	nonsynonymous SNV	XKR4:NM_052898:exon1:c.G494A:p.R165H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.476	0.0973141550872	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.003	0.76473	D	0.999	0.77913	D	0.918	0.65394	D	0.000205	0.47681	D	0.127086	0.999783	0.49076	D	2.505	0.72935	M	-0.15	0.65192	T	-2.01	0.46337	N	0.649	0.67391	-0.2041	0.77564	T	0.415	0.76232	T	10	0.75375366	0.75828	D	0.097314	0.76753	D	0.476	0.76816	0.677	0.81496	0.849196322491	0.84774	0.7889629455339338	0.78848	1.71759824181	0.90524	0.935976862907	0.99290	D	0.097112	0.39961	T	0.316911	0.84250	D	0.217444	0.84045	D	0.990491151809692	0.80716	D	0.989601	0.96561	D	0.27911463	0.50963	0.26417568	0.52233	0.27911463	0.50963	0.26417568	0.52233	-6.586	0.50945	T	.	.	0.824	0.78511	P	.;.	.;.	5.902917	0.94005	33	0.99955487005235077	0.99975	0.49595	0.28469	N	ALL	0.785774	0.71606	D	0.864626668306213	0.89924	10.17639	0.859847938803985	0.93579	12.13653	1.0	0.98316	0.685219	0.55550	0	0.552344	0.17405	0	0.674405	0.61402	0	0.341033	0.05752	3	.	.	5.57	5.57	0.84021	9.255000	0.94710	11.468000	0.92849	0.565000	0.28586	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.549	0.95303	885	0.28214	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1821.92	35	chr8	55102982	.	G	A	1821.92	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.484;DP=305;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.83;ReadPosRankSum=1.38;SOR=0.717	GT:AD:DP:GQ:PL	0/1:35,38:73:99:961,0,901	4	0	2	1
chr8	67076486	67076486	A	G	exonic	CSPP1	.	nonsynonymous SNV	CSPP1:NM_001363131:exon3:c.A104G:p.K35R,CSPP1:NM_001363132:exon3:c.A104G:p.K35R,CSPP1:NM_001363133:exon3:c.A104G:p.K35R,CSPP1:NM_001364869:exon3:c.A212G:p.K71R,CSPP1:NM_001364870:exon3:c.A212G:p.K71R,CSPP1:NM_001382391:exon3:c.A104G:p.K35R,CSPP1:NM_024790:exon3:c.A212G:p.K71R	Joubert syndrome 21, Autosomal recessive	438	1074	10	0	0	10	0.00463392	.	.	.	439323	not_provided|CSPP1-related_disorder|Joubert_syndrome_21	MedGen:C3661900|.|MONDO:MONDO:0014288,MedGen:C3810212,OMIM:615636	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.081	0.032919025482	0.0003	0.000998403	0.0009	0	0.0007	0	0	0.0007	0.0022	0.0035	0.000815	126	154602	rs200158932	0.0007	0.0008	0.0007	0.0008	0.0037	0.0007	0.0007	0.0034	0.0032	3.223e-05	0.0009	0.0048	0	1.901e-05	0.0020	0.0005	0.0012	0.0037	0.0008	0.0008	0.0007	0.0009	0.0033	0.0007	0.0006	0.0021	0.0017	9.635e-05	0	0.0022	0.0075	0	0	0	0.0006	0.0014	0.0033	0.167	0.31088	T	0.397	0.15157	T	0.675	0.41275	P	0.23	0.38212	B	.	.	.	.	0.999968	0.52935	D	2.175	0.60977	M	0.01	0.62459	T	-1.58	0.38151	N	0.29	0.32812	-0.9104	0.46805	T	0.168	0.50713	T	9	0.004075825	0.00080	T	0.032919	0.54612	D	0.081	0.23632	.	.	0.618220796974	0.61513	0.13224687950424716	0.13149	0.260233757708	0.28594	0.417426407337	0.27483	T	0.039126	0.25082	T	-0.506299	0.00527	T	-0.503091	0.22027	T	0.0435329575867889	0.04335	T	0.722728	0.33613	T	.	.	.	.	.	.	.	.	-4.079	0.24980	T	.	.	0.086	0.10691	B	.;.	.;.	3.978801	0.58476	24.0	0.96336002961567346	0.29466	0.77316	0.38000	D	AEFDBHI	0.176160	0.30336	N	-0.592453376376473	0.19172	1.001356	-0.56047423542501	0.20528	1.106393	0.422258865873599	0.20301	0.706548	0.73137	0	0.708844	0.79440	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.53	3.09	0.34677	3.732000	0.54746	.	.	-0.095000	0.16041	0.996000	0.39380	0.999000	0.35428	0.014000	0.10232	0.737:0.263:0.0:0.0	12.555	0.55595	358	0.85037	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.002014	0.000000	0.001359	0.000000	0.000000	0.000000	0.009146	0.000000	0.1429	1073.26	34	chr8	67076486	.	A	G	1073.26	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.58;DP=265;ExcessHet=0.3476;FS=3.701;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=9.02;ReadPosRankSum=-1.154;SOR=1.136	GT:AD:DP:GQ:PL	0/1:37,15:52:99:344,0,918	5	0	2	0
chr8	73292779	73292782	AACC	-	exonic	RPL7	.	frameshift deletion	RPL7:NM_000971:exon2:c.30_33del:p.E10Dfs*18	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	220.45	47	chr8	73292778	.	GAACC	G	220.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.485;DP=354;ExcessHet=0;FS=57.234;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=2.86;ReadPosRankSum=1.49;SOR=5.279	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:64,13:77:99:0|1:73292778_GAACC_G:231,0,2475:73292778	6	0	1	0
chr8	73292782	73292782	-	GGGG	exonic	RPL7	.	frameshift insertion	RPL7:NM_000971:exon2:c.29_30insCCCC:p.E10Dfs*11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	220.6	39	chr8	73292782	.	C	CGGGG	220.6	.	AC=1;AF=0.071;AN=14;DP=294;ExcessHet=0;FS=57.234;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=2.86;ReadPosRankSum=1.35;SOR=5.279	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:64,13:77:99:0|1:73292778_GAACC_G:231,0,2475:73292778	6	0	1	0
chr8	100715564	100715564	C	T	exonic	PABPC1	.	nonsynonymous SNV	PABPC1:NM_002568:exon4:c.G541A:p.A181T	.	439	1020	63	0	0	63	0.0299572	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.0340158553091	.	.	0.0025	0.0035	0.0022	0.0022	0.0029	0.0026	0.0045	0.0017	3.84e-05	1	26028	rs201575415	0.0002	0.0051	0.0002	0.0003	0.0012	0.0002	0.0002	0.0010	0.0009	0.0002	0.0003	0.0001	2.551e-05	0.0002	0.0002	0.0002	0.0002	0.0012	1.316e-05	0.0003	2.572e-05	0	.	2.19e-06	8.2e-07	.	.	0	0	0	0	0	0.0002	0	0	0	0	0.064	0.36912	T	0.235	0.24987	T	0.935	0.52277	P	0.543	0.52749	P	0.000007	0.62929	D	0.000000	0.999998	0.58761	D	1.86	0.49225	L	-2.01	0.85468	D	-1.72	0.40850	N	0.516	0.58968	-0.4866	0.69129	T	0.348	0.71289	T	10	0.04839903	0.04285	T	0.034016	0.55387	D	0.169	0.43123	.	.	0.771171459251	0.76907	0.7074090065815354	0.70682	1.20548367747	0.80694	0.786288261414	0.79878	T	0.135364	0.46714	T	0.117018	0.66071	D	-0.0696881	0.65648	T	0.141958981752396	0.16443	T	0.819218	0.48387	T	0.4579477	0.64543	0.32566392	0.58480	0.4579477	0.64544	0.32566392	0.58479	-8.102	0.61764	D	.	.	0.410	0.65091	A	.;.;.;.	.;.;.;.	4.555899	0.71747	25.7	0.99762505917770328	0.85172	0.97559	0.75543	D	AEFDBCI	0.789396	0.71860	D	0.434520686034361	0.63332	4.564763	0.497820100196361	0.67844	5.138917	0.99999999998101	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.12	5.12	0.69459	6.081000	0.70951	7.691000	0.65788	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:1.0:0.0:0.0	18.941	0.92581	257	0.89904	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.019637	0.025253	0.008152	0.035088	0.000000	0.017241	0.033537	0.007576	0.1429	191.26	35	chr8	100715564	.	C	T	191.26	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.652;DP=292;ExcessHet=0.3476;FS=2.314;MLEAC=2;MLEAF=0.143;MQ=58.39;MQRankSum=-7.967;QD=1.31;ReadPosRankSum=0.165;SOR=0.42	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:60,5:65:20:0|1:100715564_C_T:20,0,2484:100715564	5	0	2	0
chr8	107284736	107284736	C	T	exonic	ANGPT1	.	nonsynonymous SNV	ANGPT1:NM_001314051:exon6:c.G551A:p.R184Q,ANGPT1:NM_001146:exon7:c.G1151A:p.R384Q,ANGPT1:NM_001199859:exon7:c.G1148A:p.R383Q	.	425	1080	17	0	0	17	0.00780891	.	.	.	700335	not_provided|Hereditary_angioedema_type_3|ANGPT1-related_disorder	MedGen:C3661900|MONDO:MONDO:0012526,MedGen:C1857728,OMIM:610618,Orphanet:100054|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.129	0.0196338407554	0.0007	0.00139776	0.0013	0.0002	0.0022	0	0	0.0017	0.0033	0.0007	0.0012936	200	154602	rs146465357	0.0009	0.0009	0.0009	0.0010	0.0359	0.0009	0.0009	0.0319	0.0303	0.0011	0.0025	0.0015	0	3.76e-05	0.0359	0.0007	0.0018	0.0006	0.0012	0.0012	0.0012	0.0012	0.0040	0.0011	0.0010	0.0032	0.0029	0.0002	0	0.0040	0.0020	0	0	0.0612	0.0013	0.0033	0	0.496	0.10148	T	0.624	0.07342	T	0.0	0.02946	B	0.003	0.08700	B	0.001264	0.39594	N	0.292338	0.946439	0.37527	D	-0.58	0.02282	N	-1.02	0.76300	T	1.42	0.01213	N	0.12	0.11054	-0.8169	0.54127	T	0.156	0.48704	T	10	0.004649788	0.00097	T	0.019634	0.42042	T	0.129	0.35316	.	.	0.548084970984	0.54464	.	.	1.09884931707	0.77656	0.208435475826	0.00746	T	0.105378	0.41579	T	-0.479626	0.00743	T	-0.466964	0.25844	T	0.0260462099909689	0.01412	T	0.670133	0.27879	T	0.088085026	0.20535	0.07744094	0.17252	0.088085026	0.20535	0.07744094	0.17251	-2.19	0.03992	T	.	.	0.066	0.04932	B	.;.;.;.	.;.;.;.	1.766831	0.22469	15.63	0.96285748806707572	0.29295	0.63144	0.31998	D	AEFDGHCIJ	0.350261	0.44376	N	-0.403306316873206	0.25353	1.375649	-0.203581745616146	0.31407	1.777156	0.999783491271583	0.43007	0.638212	0.43195	0	0.573888	0.26702	0	0.547309	0.15389	0	0.668105	0.65232	0	.	.	5.73	3.93	0.44666	1.019000	0.29616	2.169000	0.31039	-0.171000	0.11205	0.859000	0.30595	1.000000	0.68203	0.910000	0.44547	0.0:0.7827:0.0:0.2173	9.188	0.36343	898	0.25240	Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;.;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.022659	0.025253	0.031250	0.046784	0.000000	0.051724	0.003049	0.000000	0.07143	731.63	35	chr8	107284736	.	C	T	731.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.81;DP=271;ExcessHet=0;FS=5.434;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.7;ReadPosRankSum=0.501;SOR=1.226	GT:AD:DP:GQ:PL	0/1:61,34:95:99:742,0,1317	6	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	.	.	.	.	.	.	.	.	0.2143	268.18	101	chr8	132010871	.	G	C	268.18	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-2.886;DP=842;ExcessHet=1.1394;FS=195.575;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=0.71;ReadPosRankSum=1.3;SOR=10.462	GT:AD:DP:GQ:PL	0/1:96,49:154:99:219,0,1249	4	0	3	0
chr8	132893891	132893891	G	A	exonic	TG	.	nonsynonymous SNV	TG:NM_003235:exon11:c.G2963A:p.R988H	Thyroid dyshormonogenesis 3, Autosomal recessive	0	1420	80	3	19	105	0.0293917	.	.	.	700402	not_provided|Iodotyrosyl_coupling_defect	MedGen:C3661900|MONDO:MONDO:0010135,MedGen:C0342194,OMIM:274700,Orphanet:95716	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.031	.	.	0.0113818	0.0062	0.0136	0.0065	0	0.0002	0.0047	0.0198	0.0125	0.0060931	942	154602	rs16893332	0.0039	0.0039	0.0036	0.0043	0.0326	0.0039	0.0038	0.0288	0.0273	0.0148	0.0069	0.0242	5.038e-05	3.744e-05	0.0326	0.0023	0.0071	0.0129	0.0076	0.0076	0.0075	0.0078	0.0141	0.0072	0.0071	0.0120	0.0116	0.0129	0.0694	0.0091	0.0271	0.0002	0	0.0272	0.0034	0.0095	0.0141	0.145	0.25154	T	0.23	0.25135	T	0.014	0.16867	B	0.002	0.06944	B	0.225609	0.03484	N	1.557920	1	0.08975	P	1.995	0.54099	M	-0.05	0.63403	T	-0.61	0.18042	N	0.072	0.04547	-1.0384	0.17802	T	0.130	0.43907	T	9	0.0039331317	0.00075	T	.	.	.	0.031	0.07369	.	.	0.489036454283	0.48535	0.4654018044957635	0.46459	0.0845940308932	0.09560	0.33510312438	0.15703	T	0.031147	0.21906	T	-0.600481	0.00145	T	-0.62365	0.10901	T	0.00297776578759739	0.00031	T	0.612539	0.23323	T	0.057231065	0.11362	0.022166258	0.00247	0.057231065	0.11362	0.022166258	0.00247	-4.793	0.34510	T	0.2324255815871423	0.31459	0.086	0.10449	B	.	.	1.354724	0.17631	13.28	0.93809713431198005	0.23783	0.05774	0.11706	N	ALL	0.057441	0.10699	N	-1.0196633219255	0.08196	0.383451	-1.04276711803798	0.08857	0.4376336	0.999999974337892	0.74766	0.500041	0.20204	0	0.59043	0.45803	0	0.624306	0.44879	0	0.564101	0.26826	0	.	.	5.14	-0.246	0.12380	-0.135000	0.10399	0.321000	0.17185	0.661000	0.55757	0.000000	0.06391	0.004000	0.18990	0.070000	0.16646	0.3158:0.2552:0.2984:0.1306	1.132	0.01640	808	0.43318	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	925.45	33	chr8	132893891	.	G	A	925.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.46;DP=247;ExcessHet=0;FS=2.006;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.43;ReadPosRankSum=-2.447;SOR=1.045	GT:AD:DP:GQ:PL	0/1:44,37:81:99:936,0,1099	6	0	1	0
chr8	132941528	132941528	C	A	exonic	TG	.	nonsynonymous SNV	TG:NM_003235:exon26:c.C5219A:p.T1740K	Thyroid dyshormonogenesis 3, Autosomal recessive	1	1520	1	0	0	1	0.000328839	.	.	.	722859	not_provided|Iodotyrosyl_coupling_defect	MedGen:C3661900|MONDO:MONDO:0010135,MedGen:C0342194,OMIM:274700,Orphanet:95716	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.144	.	0.0080	0.00758786	0.0023	0.0262	0.0005	0	0	0	0	0	0.0021216	328	154602	rs16904791	0.0007	0.0007	0.0008	0.0006	0.0264	0.0007	0.0007	0.0249	0.0244	0.0264	0.0014	0	0	0	0.0010	8.993e-06	0.0016	2.319e-05	0.0075	0.0075	0.0078	0.0071	0.0259	0.0071	0.0069	0.0246	0.0241	0.0259	0	0.0030	0	0	0	0	7.349e-05	0.0033	0	0.002	0.72154	D	0.008	0.67890	D	0.514	0.37393	P	0.036	0.22909	B	0.180730	0.03180	N	1.642720	1	0.08975	N	2.19	0.61577	M	-0.25	0.67011	T	-2.13	0.48354	N	0.285	0.32259	-0.9220	0.45279	T	0.092	0.35010	T	10	0.008458972	0.00192	T	.	.	.	0.144	0.38394	.	.	0.810901720151	0.80912	0.4627720739836157	0.46196	0.0895148867953	0.10113	0.295309662819	0.09703	T	0.118532	0.43941	T	-0.510109	0.00501	T	-0.484563	0.23962	T	0.0241126761368785	0.01159	T	0.675332	0.28377	T	0.31504348	0.54219	0.17873062	0.40561	0.5080722	0.67568	0.17803042	0.40443	-3.043	0.10651	T	0.5186647486589467	0.59128	0.331	0.55278	B	.	.	1.747279	0.22230	15.53	0.96835020279510986	0.31282	0.06640	0.12657	N	AEFDGBI	0.105024	0.20996	N	-0.485131604309739	0.22568	1.205935	-0.526456082756643	0.21436	1.160	0.999968848663383	0.48965	0.500041	0.20204	0	0.59043	0.45803	0	0.624306	0.44879	0	0.564101	0.26826	0	.	.	5.61	3.83	0.43287	1.920000	0.39655	-0.005000	0.13145	-0.176000	0.10722	0.006000	0.17386	0.000000	0.08366	0.003000	0.05239	0.0:0.8253:0.0:0.1747	8.737	0.33697	672	0.60758	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.005051	0.002717	0.002924	0.000000	0.000000	0.000000	0.000000	0.1429	3816.24	33	chr8	132941528	.	C	A	3816.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.15;DP=466;ExcessHet=0.3476;FS=4.468;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=12.31;ReadPosRankSum=-0.367;SOR=0.498	GT:AD:DP:GQ:PL	0/1:82,72:154:99:1777,0,1956	5	0	2	0
chr8	138152799	138152799	C	T	exonic	FAM135B	.	nonsynonymous SNV	FAM135B:NM_001362965:exon13:c.G1676A:p.S559N,FAM135B:NM_015912:exon13:c.G1676A:p.S559N	.	.	.	.	.	.	.	.	.	.	.	2306464	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.076	0.00706752229746	8.3e-05	.	8.281e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs372228047	4.788e-06	4.788e-06	1.361e-06	8.25e-06	2.519e-05	1.99e-06	1.28e-06	1.94e-06	1.28e-06	0	0	0	2.519e-05	0	0	5.396e-06	0	0	6.573e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.053	0.38863	T	0.282	0.21545	T	0.988	0.62325	D	0.815	0.58847	P	0.000655	0.42656	D	0.229384	0.847345	0.28546	N	1.9	0.50570	L	2.1	0.19990	T	-1.15	0.29525	N	0.165	0.17416	-1.0118	0.26353	T	0.113	0.40238	T	10	0.19002917	0.34628	T	0.007068	0.18731	T	0.076	0.22200	.	.	0.138757226776	0.13463	0.3425949828871486	0.34172	0.0756700949329	0.08493	0.393459439278	0.24156	T	0.053581	0.29484	T	-0.213519	0.18887	T	-0.544482	0.17859	T	0.610940277576447	0.36838	D	0.60344	0.22635	T	0.12558632	0.29437	0.12949654	0.31136	0.12558632	0.29437	0.12949654	0.31135	-4.259	0.27598	T	.	.	0.090	0.12512	B	.	.	2.900087	0.38433	20.7	0.99420205974627918	0.63742	0.89438	0.49903	D	AEFBI	0.304866	0.41245	N	0.590448359577619	0.72579	5.827827	0.584269450379789	0.73811	6.032093	0.0209559632981944	0.13307	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.45	5.45	0.79688	1.736000	0.37811	2.529000	0.33158	0.599000	0.40250	1.000000	0.71638	0.993000	0.31925	0.991000	0.66497	0.0:0.9215:0.0:0.0785	12.028	0.52678	959	0.08690	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2137.04	63	chr8	138152799	.	C	T	2137.04	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.122;DP=378;ExcessHet=0.3476;FS=4.96;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=14.64;ReadPosRankSum=0.498;SOR=1.096	GT:AD:DP:GQ:PL	0/1:31,41:72:99:1145,0,781	5	0	2	0
chr8	143331329	143331329	C	T	exonic	TOP1MT	.	nonsynonymous SNV	TOP1MT:NM_052963:exon2:c.G133A:p.E45K	.	412	1101	9	0	0	9	0.00407056	.	.	.	1647019	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.144	0.0204397279514	0.0007	0.00139776	0.0018	0.0005	0.0003	0.0001	0.0012	0.0018	0.0011	0.0048	0.0002911	45	154602	rs150542670	0.0017	0.0017	0.0016	0.0018	0.0044	0.0016	0.0016	0.0040	0.0039	0.0002	0.0003	0	0	0.0006	0.0007	0.0017	0.0019	0.0044	0.0011	0.0011	0.0011	0.0011	0.0058	0.0009	0.0009	0.0041	0.0036	0.0004	0	0.0003	0	0	0.0006	0	0.0015	0.0005	0.0058	0.143	0.36709	T	0.224	0.60337	T	0.004	0.12183	B	0.002	0.06944	B	0.000470	0.44119	U	0.000000	0.999902	0.81001	D	1.06	0.26948	L	1.44	0.32722	T	-2.59	0.63901	D	0.26	0.29429	-1.0816	0.07041	T	0.043	0.18326	T	10	0.0051133335	0.00111	T	0.02044	0.43035	T	0.144	0.38394	.	.	0.36893422563	0.36505	0.19179992460634052	0.19097	0.209460660438	0.23414	0.468781292439	0.34512	T	0.219167	0.58209	T	-0.439756	0.01297	T	-0.404463	0.32865	T	0.0363037527080175	0.03033	T	0.909809	0.68064	D	0.1576167	0.35506	0.1333844	0.31985	0.1576167	0.35505	0.1333844	0.31984	-3.18	0.12238	T	.	.	0.081	0.52202	B	.;.;.;.	.;.;.;.	1.207292	0.16000	12.25	0.99170694186675012	0.54383	0.59679	0.30982	D	AEFDBI	0.234409	0.35717	N	-0.736509377162668	0.15002	0.7522556	-0.737131237709863	0.16039	0.8465942	0.999930376336172	0.46732	0.706298	0.61202	0	0.709663	0.81188	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	3.34	1.02	0.19102	2.336000	0.43597	.	.	0.536000	0.24961	1.000000	0.71638	0.000000	0.08366	0.306000	0.24642	0.0:0.7061:0.0:0.2939	6.657	0.22185	976	0.04745	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	448.63	29	chr8	143331329	.	C	T	448.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.833;DP=224;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.6;ReadPosRankSum=1.12;SOR=0.816	GT:AD:DP:GQ:PL	0/1:37,22:59:99:459,0,817	6	0	1	0
chr8	143721285	143721285	G	A	exonic	MAPK15	.	nonsynonymous SNV	MAPK15:NM_139021:exon11:c.G1078A:p.G360S	.	428	1089	5	0	0	5	0.00229043	.	.	.	3285084	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.041	0.0325734533514	.	0.000199681	4.179e-05	0.0001	8.66e-05	0	0	4.544e-05	0	0	3.88e-05	6	154602	rs200752759	3.079e-05	3.078e-05	2.996e-05	3.164e-05	0.0033	2.348e-05	2.095e-05	0.0022	0.0018	5.974e-05	4.474e-05	0	0	0	0.0033	1.169e-05	6.625e-05	5.797e-05	4.6e-05	4.593e-05	3.857e-05	5.378e-05	6.539e-05	2.11e-05	1.527e-05	1.172e-05	6.25e-06	4.815e-05	0	6.539e-05	0	0	0	0.0034	4.414e-05	0	0	0.211	0.19569	T	0.423	0.13993	T	0.005	0.12996	B	0.005	0.11217	B	0.109187	0.02622	U	1.975110	1	0.08975	N	0.97	0.24054	L	-0.73	0.73100	T	-0.39	0.13611	N	0.115	0.10340	-1.0252	0.22017	T	0.191	0.54272	T	10	0.03722644	0.02065	T	0.032573	0.54365	D	0.041	0.10877	.	.	0.553388312184	0.54996	0.3288651789010235	0.32799	0.0211720181256	0.02094	0.256552159786	0.04488	T	0.021644	0.16816	T	-0.384345	0.02924	T	-0.607715	0.12172	T	0.0293381012311253	0.01889	T	.	.	.	0.026203772	0.01649	0.03518526	0.02724	0.026203772	0.01648	0.03518526	0.02724	-3.579	0.17553	T	.	.	0.079	0.07318	B	.	.	-0.288630	0.02667	0.342	0.61918067560588863	0.06830	0.02920	0.07728	N	AEFDGBHCI	0.040478	0.06025	N	-1.34850459792069	0.03141	0.1398081	-1.41830107420301	0.03069	0.1424491	0.999997951817614	0.74766	0.634777	0.41761	0	0.588066	0.40923	0	0.643519	0.47002	0	0.613276	0.41899	0	.	.	2.16	0.275	0.14911	-0.293000	0.08357	.	.	-2.014000	0.00440	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1652:0.2665:0.5683:0.0	3.505	0.07248	889	0.27310	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.001359	0.002924	0.000000	0.017241	0.000000	0.000000	0.07143	807.46	30	chr8	143721285	.	G	A	807.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.229;DP=221;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.83;ReadPosRankSum=0.048;SOR=0.61	GT:AD:DP:GQ:PL	0/1:21,30:51:99:818,0,624	6	0	1	0
chr8	144258878	144258878	C	T	exonic	MROH1	.	nonsynonymous SNV	MROH1:NM_001288814:exon34:c.C3866T:p.S1289L,MROH1:NM_032450:exon36:c.C3893T:p.S1298L	.	407	1110	3	2	0	7	0.00314324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.0337670213489	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1005336507	0.0022	0.0022	0.0022	0.0021	0.0060	0.0021	0.0020	0.0037	0.0031	0.0011	0.0007	0.0016	0	0.0003	0.0060	0.0033	0.0016	0.0003	0.0021	0.0021	0.0021	0.0020	0.0035	0.0019	0.0018	0.0032	0.0030	0.0007	0	0.0018	0.0017	0	0.0003	0.0034	0.0035	0.0033	0.0002	0.034	0.45039	D	0.032	0.92824	D	0.997	0.73220	D	0.788	0.74454	P	0.006001	0.32354	N	0.197732	1	0.08975	N	2.015	0.55033	M	1.0	0.41392	T	-3.21	0.66206	D	0.328	0.38129	-0.8534	0.51732	T	0.220	0.58358	T	10	0.10876858	0.20263	T	0.033767	0.55213	D	0.107	0.30369	0.319	0.29741	0.110392049598	0.10638	0.3797835650580712	0.37893	0.194208701575	0.21755	0.70612347126	0.68031	T	0.028408	0.20584	T	-0.134168	0.30822	T	-0.430499	0.29879	T	0.978583574295044	0.72399	D	0.928507	0.73679	D	0.15568125	0.35173	0.14618824	0.34642	0.15568125	0.35172	0.14618824	0.34641	-3.475	0.21253	T	.	.	0.109	0.21877	B	.;.;.;.	.;.;.;.	3.032701	0.40627	21.2	0.99771708899876155	0.86003	0.73150	0.35785	D	AEFGI	0.192734	0.31988	N	0.258045633147015	0.54039	3.570457	0.150365078966404	0.47162	2.950548	0.61949960253286	0.21873	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	4.28	4.28	0.50183	1.745000	0.37904	1.415000	0.26314	0.599000	0.40250	0.003000	0.16062	0.001000	0.17328	0.370000	0.26111	0.0:1.0:0.0:0.0	14.252	0.65575	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	.	.	.	.	.	.	.	.	0.07143	845.63	36	chr8	144258878	.	C	T	845.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.621;DP=250;ExcessHet=0;FS=0.928;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=0.29;SOR=0.91	GT:AD:DP:GQ:PL	0/1:31,37:68:99:856,0,694	6	0	1	0
chr9	434892	434892	G	C	exonic	DOCK8	.	nonsynonymous SNV	DOCK8:NM_001190458:exon37:c.G4696C:p.V1566L,DOCK8:NM_001193536:exon38:c.G4792C:p.V1598L,DOCK8:NM_203447:exon39:c.G4996C:p.V1666L	Hyper-IgE recurrent infection syndrome, autosomal recessive, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.290	0.0230074706486	.	.	8.254e-06	0	0	0	0	0	0	6.062e-05	6.5e-06	1	154602	rs768545433	2.737e-06	2.736e-06	0	5.501e-06	0.0002	6.4e-07	4.3e-07	9.24e-06	4.56e-06	0	0	0	0	0	0.0002	0	0	3.478e-05	6.57e-06	6.566e-06	1.284e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.14	0.25664	T	0.152	0.32461	T	0.009	0.15093	B	0.035	0.22741	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.95	0.52479	M	-0.28	0.67543	T	-2.39	0.52612	N	0.611	0.85554	-0.8587	0.51356	T	0.213	0.57401	T	10	0.4116573	0.56266	T	0.023007	0.45945	T	0.290	0.60924	0.432	0.48171	0.662613171164	0.65978	0.5812722662134858	0.58056	0.0699174379648	0.07831	0.788560688496	0.80224	T	0.166128	0.51225	T	0.0929959	0.63524	D	-0.00734025	0.69858	D	0.628335654735565	0.37549	D	0.982402	0.94055	D	0.32018855	0.54656	0.29093933	0.55118	0.32018855	0.54656	0.29093933	0.55117	-7.136	0.55020	T	0.2264415059736271	0.30604	0.377	0.61937	A	.;.;.;.	.;.;.;.	4.005335	0.59046	24.1	0.99103904021037093	0.52546	0.99030	0.90202	D	AEFGBI	0.907881	0.86246	D	0.0538980001736504	0.44322	2.708381	0.229644330954156	0.51500	3.331935	0.999999999999998	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.618467	0.43123	0	0.530356	0.10902	0	.	.	5.04	5.04	0.67293	9.872000	0.98474	11.800000	0.96626	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.717000	0.34675	0.0:0.0:1.0:0.0	18.584	0.91136	776	0.48302	Dedicator of cytokinesis, C-terminal|DHR-2 domain;.;.;Dedicator of cytokinesis, C-terminal|DHR-2 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	.	.	.	.	.	.	.	.	0.07143	1804.44	33	chr9	434892	.	G	C	1804.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.814;DP=300;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.19;ReadPosRankSum=-0.258;SOR=0.771	GT:AD:DP:GQ:PL	0/1:37,68:105:99:1815,0,815	6	0	1	0
chr9	8485885	8485885	T	C	exonic	PTPRD	.	nonsynonymous SNV	PTPRD:NM_001377958:exon18:c.A2932G:p.T978A,PTPRD:NM_001378058:exon18:c.A2932G:p.T978A,PTPRD:NM_002839:exon28:c.A2932G:p.T978A	.	428	1087	7	0	0	7	0.00320954	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.018855501301	0.0005	0.000599042	0.0003	0.0004	0.0005	0	0	0.0003	0.0022	0	0.0002523	39	154602	rs139259906	0.0003	0.0003	0.0002	0.0003	0.0049	0.0002	0.0002	0.0034	0.0030	0.0004	0.0005	0	0	0	0.0049	0.0002	0.0007	0.0001	0.0003	0.0003	0.0002	0.0003	0.0007	0.0002	0.0002	0.0004	0.0003	0.0002	0	0.0007	0	0	0	0.0034	0.0002	0.0009	0	0.241	0.17643	T	0.688	0.05958	T	0.441	0.35913	B	0.404	0.44625	B	0.000000	0.84330	D	0.049281	0.999959	0.81001	D	0.95	0.23787	L	0.33	0.58323	T	-0.33	0.12472	N	0.315	0.35727	-0.8841	0.49431	T	0.191	0.54374	T	9	0.03077069	0.01206	T	0.018856	0.41058	T	0.047	0.12962	.	.	0.216943180021	0.21308	0.37168234090399627	0.37082	.	.	0.328218221664	0.14665	T	0.092035	0.38921	T	-0.317459	0.07107	T	-0.353235	0.38835	T	0.00478057330474257	0.00051	T	.	.	.	0.0818226	0.18821	0.07537629	0.16589	0.0818226	0.18820	0.07537629	0.16588	-5.638	0.43138	T	.	.	0.077	0.06295	B	.;.;.	.;.;.	2.446026	0.31491	18.76	0.96052369682002114	0.28567	0.85092	0.44197	D	AEFGBCI	0.709516	0.66358	D	-0.0843858485772074	0.38076	2.22466	0.0501453697458789	0.42080	2.538941	0.999578175038588	0.40495	0.719381	0.83141	0	0.573888	0.26702	0	0.723133	0.82415	0	0.564101	0.26826	0	.	.	5.48	4.33	0.51083	2.355000	0.43761	1.763000	0.28569	-0.121000	0.13915	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.1655:0.0:0.0:0.8345	10.910	0.46316	610	0.67008	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006546	0.010101	0.009511	0.005848	0.000000	0.000000	0.006098	0.000000	0.1429	2352.65	38	chr9	8485885	.	T	C	2352.65	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.271;DP=323;ExcessHet=0.3476;FS=0.579;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=13.92;ReadPosRankSum=0.038;SOR=0.644	GT:AD:DP:GQ:PL	0/1:35,46:81:99:1169,0,841	5	0	2	0
chr9	32633038	32633038	C	T	exonic	TAF1L	.	nonsynonymous SNV	TAF1L:NM_153809:exon1:c.G2542A:p.D848N	.	1	1519	2	0	0	2	0.000657895	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.217	0.00431399196505	0.0008	.	0.0008	0	0	0	0.0002	0.0014	0	0	0.0008603	133	154602	rs141368669	0.0013	0.0013	0.0014	0.0012	0.0016	0.0012	0.0012	0.0016	0.0016	8.961e-05	6.708e-05	0	0	0.0002	0.0003	0.0016	0.0007	0	0.0008	0.0008	0.0009	0.0007	0.0016	0.0007	0.0007	0.0014	0.0013	0.0002	0	0.0003	0	0	9.432e-05	0	0.0016	0	0	0.002	0.72154	D	0.005	0.72224	D	1.0	0.90584	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	0.999991	0.58761	D	2.835	0.82492	M	2.5	0.14408	T	-4.32	0.76655	D	0.371	0.41261	-1.0008	0.29688	T	0.103	0.37844	T	10	0.056660652	0.06385	T	0.004314	0.10467	T	0.217	0.51112	.	.	0.592138549	0.58891	0.6728832054054725	0.67226	0.330652215835	0.35138	0.631979703903	0.57426	T	0.196972	0.55351	T	-0.573919	0.00210	T	-0.602719	0.12584	T	0.357386459807215	0.27307	T	0.980902	0.93438	D	0.5490989	0.69906	0.46545616	0.68979	0.5490989	0.69907	0.46545616	0.68980	-12.927	0.89060	D	.	.	0.258	0.49285	B	.	.	4.703072	0.75479	26.3	0.99882901001954261	0.95892	0.71358	0.34979	D	AEFBI	0.225011	0.34917	N	0.402277582488125	0.61548	4.357392	0.201072577644591	0.49908	3.188471	0.978636893881913	0.29943	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	1.19	1.19	0.20120	5.211000	0.65052	7.527000	0.59855	0.240000	0.18237	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:1.0:0.0:0.0	7.831	0.28506	835	0.38313	Transcription initiation factor TFIID subunit 1, domain of unknown function	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1515.44	38	chr9	32633038	.	C	T	1515.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.96;DP=382;ExcessHet=0;FS=0.627;MLEAC=1;MLEAF=0.071;MQ=59.6;MQRankSum=1.68;QD=10.45;ReadPosRankSum=-0.203;SOR=0.792	GT:AD:DP:GQ:PL	0/1:86,59:145:99:1526,0,2198	6	0	1	0
chr9	33467154	33467154	G	A	exonic	NOL6	.	nonsynonymous SNV	NOL6:NM_022917:exon14:c.C1834T:p.R612C,NOL6:NM_139235:exon14:c.C1834T:p.R612C	.	436	1080	6	0	0	6	0.00277008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.411	0.0380854205719	7.7e-05	0.000798722	0.0005	0.0002	8.649e-05	0	0	0.0002	0.0022	0.0028	0.0004463	69	154602	rs184298169	0.0003	0.0003	0.0002	0.0004	0.0036	0.0003	0.0003	0.0025	0.0024	2.987e-05	0.0001	0.0015	0	0	0.0036	0.0001	0.0003	0.0028	0.0002	0.0002	0.0002	0.0003	0.0037	0.0002	0.0001	0.0024	0.0020	0	0	6.533e-05	0.0026	0.0002	0	0	5.88e-05	0	0.0037	0.0	0.91255	D	0.0	0.92824	D	0.999	0.90584	D	0.925	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.865	0.83145	M	0.87	0.46412	T	-7.15	0.94814	D	0.84	0.83678	-0.6962	0.60619	T	0.275	0.64670	T	10	0.023330659	0.00608	T	0.038085	0.58011	D	0.411	0.72252	.	.	0.553752920557	0.55033	.	.	0.88832483816	0.70104	0.56375181675	0.47797	T	0.205605	0.56471	T	-0.064089	0.42265	T	0.131486	0.78991	D	0.270975312328075	0.23789	T	0.973903	0.90628	D	0.86249053	0.88276	0.8530842	0.91711	0.86249053	0.88278	0.8530842	0.91712	-6.712	0.57258	T	.	.	0.214	0.44267	B	.;.;.	.;.;.	5.487050	0.91444	32	0.99946480412884253	0.99901	0.98432	0.82716	D	AEFDGBCI	0.782101	0.71349	D	0.738731481631431	0.82168	7.696767	0.731021955447537	0.84734	8.375275	0.999999960644069	0.74766	0.736574	0.97449	0	0.702456	0.74545	0	0.732669	0.93749	0	0.691587	0.68394	0	.	.	5.8	5.8	0.92081	4.076000	0.57313	10.028000	0.83159	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	20.061	0.97673	575	0.70088	.;Nrap protein, domain 3;Nrap protein, domain 3	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.003788	0.07143	1390.63	35	chr9	33467154	.	G	A	1390.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.341;DP=275;ExcessHet=0;FS=5.203;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.64;ReadPosRankSum=1.06;SOR=0.487	GT:AD:DP:GQ:PL	0/1:37,58:95:99:1401,0,797	6	0	1	0
chr9	35834542	35834542	T	A	exonic	TMEM8B	.	nonsynonymous SNV	TMEM8B:NM_001042590:exon2:c.T590A:p.F197Y,TMEM8B:NM_001363620:exon2:c.T590A:p.F197Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51669943	0.62407	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.787421	0.42665	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.747	0.74926	P	.	.	4.780718	0.77484	26.7	0.92731753725199129	0.22232	0.93778	0.59164	D	AEFDGBCI	.	.	.	.	.	.	.	.	.	0.999999999999926	0.74766	0.055125	0.00676	3	0.135488	0.03519	2	0.174137	0.04171	1	0.24566	0.04862	0	0.977453	0.81113	5.27	5.27	0.73797	7.440000	0.79607	7.871000	0.71963	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	14.542	0.67587	163	0.93656	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	32.47	1	chr9	35834542	.	T	A	32.47	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-0.967;DP=13;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.82;ReadPosRankSum=-0.967;SOR=0.223	GT:AD:DP:GQ:PL	0/1:1,2:3:32:40,0,32	4	0	1	2
chr9	39360041	39360041	A	T	exonic	SPATA31A1	.	nonsynonymous SNV	SPATA31A1:NM_001085452:exon4:c.A2276T:p.Q759L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00116856348519	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.60337	D	.	.	.	.	.	.	0.090824	0.02452	N	1.930630	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.167	0.17691	-0.9693	0.37345	T	0.012	0.04700	T	10	0.07996008	0.12923	T	0.001169	0.01484	T	0.026	0.05648	.	.	0.0138822411134	0.00435	.	.	.	.	.	.	.	.	.	.	-0.216369	0.18491	T	-0.548575	0.17464	T	0.126159244639023	0.15023	T	0.391261	0.09725	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.702136	0.10711	7.402	0.93903005302819831	0.23933	0.00431	0.02113	N	AEFI	0.034511	0.04287	N	-1.12540210214184	0.06194	0.284491	-1.29405058840713	0.04510	0.2129055	1.44917017380798E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.63	-1.4	0.08499	-0.373000	0.07550	-0.743000	0.07611	-0.162000	0.11565	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4962:0.3005:0.2033:0.0	2.373	0.04069	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	.	.	.	.	.	.	.	.	0.08333	45.35	7	chr9	39360041	.	A	T	45.35	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.029;DP=56;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=24.37;MQRankSum=1.03;QD=4.12;ReadPosRankSum=0.381;SOR=0.18	GT:AD:DP:GQ:PL	0/1:8,3:11:55:55,0,199	5	0	1	1
chr9	65737269	65737269	G	A	exonic	FOXD4L4	.	nonsynonymous SNV	FOXD4L4:NM_199244:exon1:c.G124A:p.E42K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1391085420	1.37e-06	0.0001	0	2.755e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	8.997e-07	0	0	1.313e-05	6.566e-05	1.284e-05	1.344e-05	2.411e-05	2.18e-06	8.2e-07	.	.	2.411e-05	0	0	0	0	0	0	1.47e-05	0	0	0.03	0.45393	D	0.094	0.39645	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-3.33	0.93928	D	-1.19	0.30346	N	0.146	0.14763	-0.2242	0.77040	T	0.611	0.86212	D	6	0.2489528	0.42200	T	0.977694	0.99876	D	.	.	0.314	0.28935	0.920657886003	0.91985	0.19302706148736593	0.19220	.	.	.	.	.	0.031689	0.22156	T	0.0374431	0.56708	T	-0.183992	0.56151	T	0.238909908774726	0.22369	T	0.481052	0.14533	T	0.0695737	0.15253	0.15053736	0.35499	0.0695737	0.15253	0.15053736	0.35498	-7.676	0.58841	D	.	.	0.086	0.10497	B	.	.	1.908215	0.24238	16.32	0.98042989383525847	0.37805	0.42992	0.27000	N	AEFI	0.053290	0.09589	N	-0.598076032017582	0.19003	0.9911656	-0.838380595120398	0.13567	0.7045324	1.09648973830877E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	1.392000	0.34095	2.150000	0.30904	0.208000	0.17961	0.016000	0.19238	0.489000	0.25143	0.007000	0.07825	.	.	.	994	0.00715	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	35.44	59	chr9	65737269	.	G	A	35.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.994;DP=607;ExcessHet=0;FS=0.825;MLEAC=1;MLEAF=0.071;MQ=41.69;MQRankSum=-1.187;QD=0.2;ReadPosRankSum=0.386;SOR=0.753	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:156,23:179:46:0|1:65737269_G_A:46,0,4089:65737269	6	0	1	0
chr9	67899199	67899199	A	-	exonic	ANKRD20A1	.	frameshift deletion	ANKRD20A1:NM_032250:exon14:c.1369delA:p.N459Ifs*5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1380160893	0.0005	0.0010	0.0005	0.0005	0.0010	0.0004	0.0004	0.0004	0.0004	0.0004	0.0006	0.0008	0.0006	0.0005	0.0010	0.0005	0.0003	0.0007	4.8e-05	8.079e-05	4.456e-05	5.202e-05	0.0001	7.96e-06	2.98e-06	2.317e-05	9.28e-06	0.0001	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	46.39	1	chr9	67899198	.	CA	C	46.39	.	AC=1;AF=0.167;AN=6;BaseQRankSum=-0.967;DP=17;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.333;MQ=37.42;MQRankSum=0.967;QD=15.46;ReadPosRankSum=-0.967;SOR=0.223	GT:AD:DP:GQ:PL	0/1:1,2:3:21:52,0,21	2	0	1	4
chr9	92080918	92080918	G	C	exonic	SPTLC1	.	nonsynonymous SNV	SPTLC1:NM_001281303:exon4:c.C306G:p.N102K,SPTLC1:NM_006415:exon4:c.C306G:p.N102K,SPTLC1:NM_178324:exon4:c.C306G:p.N102K	Neuropathy, hereditary sensory and autonomic, type IA, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.845	0.399896509883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0068	0.0012	0.0010	0.0013	0.0011	0.0010	0.0013	0.0012	0.0012	4.477e-05	0.0003	0.0002	1.873e-05	0.0009	0.0013	0.0009	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.005	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.83	0.95627	H	-3.73	0.95458	D	-5.47	0.87143	D	0.946	0.96984	1.004	0.97255	D	0.941	0.98064	D	10	0.97626525	0.97408	D	0.399897	0.93374	D	0.845	0.95175	0.798	0.91802	0.945416172085	0.94484	0.9614716476571766	0.96133	1.13632118652	0.78799	0.737543225288	0.72611	T	0.97255	0.99710	D	0.219858	0.75763	D	0.0780339	0.75447	D	0.995089709758759	0.86803	D	0.978602	0.92442	D	0.9519136	0.96460	0.8880654	0.94130	0.9519136	0.96460	0.8880654	0.94130	-14.216	0.93737	D	0.860758186576928	0.92428	0.988	0.93037	P	.;.	.;.	4.020987	0.59386	24.1	0.9926344721683531	0.57289	0.83408	0.42527	D	AEFBI	0.256177	0.37516	N	0.211284656944223	0.51746	3.353416	0.0637648407406021	0.42742	2.59063	0.00398181740670549	0.10368	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.0	2.15	0.26590	1.717000	0.37612	4.300000	0.42938	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.3508:0.0:0.6492:0.0	10.600	0.44552	892	0.26670	Aminotransferase, class I/classII;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	4599.95	248	chr9	92080918	.	G	C	4599.95	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-2.454;DP=1972;ExcessHet=14.2834;FS=456.727;MLEAC=7;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.56;ReadPosRankSum=0.555;SOR=12.059	GT:AD:DP:GQ:PL	0/1:194,120:343:99:750,0,3064	0	0	7	0
chr9	94567343	94567343	C	T	exonic	FBP2	.	nonsynonymous SNV	FBP2:NM_003837:exon5:c.G632A:p.S211N	.	420	1078	24	0	0	24	0.0110092	.	.	.	1291939	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.786	0.264523765677	0.0049	0.00219649	0.0049	0.0006	0.0032	0.0001	0.0017	0.0072	0.0099	0.0029	0.0048641	752	154602	rs61755092	0.0060	0.0060	0.0059	0.0060	0.0180	0.0058	0.0058	0.0152	0.0142	0.0012	0.0041	0.0067	2.519e-05	0.0018	0.0180	0.0067	0.0062	0.0032	0.0051	0.0051	0.0055	0.0047	0.0082	0.0048	0.0047	0.0076	0.0074	0.0012	0	0.0061	0.0081	0	0.0013	0.0102	0.0082	0.0080	0.0035	0.012	0.54683	D	0.01	0.65728	D	0.925	0.51395	P	0.756	0.56253	P	0.000000	0.84330	D	0.000000	1	0.81001	D	3.635	0.94052	H	-1.06	0.76819	T	-2.88	0.60507	D	0.925	0.92901	0.463	0.90023	D	0.592	0.85425	D	10	0.07704571	0.12111	T	0.264524	0.89639	D	0.786	0.92908	.	.	0.899524071798	0.89852	0.8972708646526822	0.89698	0.538909183156	0.51137	0.646869003773	0.59541	T	0.690878	0.91011	D	-0.248522	0.14281	T	-0.119373	0.61855	T	0.0570662658978449	0.06698	T	0.939106	0.77081	D	0.86085653	0.88151	0.5041288	0.71337	0.86085653	0.88153	0.5041288	0.71337	-13.102	0.89778	D	.	.	0.990	0.93631	P	.	.	4.692326	0.75201	26.3	0.99407335652157547	0.63122	0.97903	0.78000	D	AEFBI	0.950494	0.96418	D	0.840098062821124	0.88536	9.615741	0.790398461049065	0.89117	9.845452	0.999999999502144	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.536957	0.11973	0	0.530356	0.10902	0	.	.	5.15	5.15	0.70287	7.713000	0.83653	7.548000	0.60216	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.622	0.91282	861	0.33516	.	.	.	.	.	.	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	0.015609	0.025253	0.017663	0.017544	0.050000	0.025862	0.009146	0.000000	0.1429	1782.27	34	chr9	94567343	.	C	T	1782.27	.	AC=2;AF=0.143;AN=14;DP=239;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=27.85;SOR=0.756	GT:AD:DP:GQ:PL	1/1:0,64:64:99:1803,192,0	6	1	0	0
chr9	99218703	99218703	C	T	exonic	ALG2	.	stopgain	ALG2:NM_033087:exon2:c.G482A:p.W161X	Myasthenic syndrome, congenital, 14, with tubular aggregates, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.828	0.82358	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.597158	0.97652	D	0.62	0.97616	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	8.458503	0.97591	37	0.99695024936768817	0.80180	0.97647	0.76137	D	AEFBCI	0.261998	0.37983	N	0.920796990238025	0.92741	11.601	0.789631596824565	0.89062	9.823793	0.999999999999992	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	5.16	5.16	0.70563	7.503000	0.80474	7.668000	0.64620	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.912000	0.44740	0.0:1.0:0.0:0.0	19.019	0.92882	467	0.78285	Glycosyltransferase subfamily 4-like, N-terminal domain;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2143	72.9	34	chr9	99218703	.	C	T	72.9	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-3.371;DP=501;ExcessHet=1.1394;FS=189.497;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=0.25;ReadPosRankSum=1.4;SOR=9.269	GT:AD:DP:GQ:PL	0/1:66,25:91:50:50,0,1282	4	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	.	.	.	.	.	.	.	.	0.5	647.45	71	chr9	106974250	.	T	C	647.45	.	AC=5;AF=0.5;AN=10;BaseQRankSum=-3.424;DP=793;ExcessHet=6.1542;FS=213.033;MLEAC=6;MLEAF=0.6;MQ=60;MQRankSum=0;QD=0.87;ReadPosRankSum=2.55;SOR=10.397	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:115,34:149:99:0|1:106974250_T_C:165,0,3714:106974250	0	0	5	2
chr9	106974252	106974252	G	A	exonic	ZNF462	.	nonsynonymous SNV	ZNF462:NM_001347997:exon9:c.G4216A:p.D1406N,ZNF462:NM_021224:exon9:c.G6811A:p.D2271N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.240	0.0408367045235	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.45039	D	0.0	0.92824	D	1.0	0.90584	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.9	0.50570	L	3.42	0.05507	T	-1.1	0.35991	N	0.785	0.79503	-1.1146	0.02703	T	0.065	0.26772	T	10	0.41275227	0.56336	T	0.040837	0.59597	D	0.240	0.54500	0.441	0.49648	0.138757226776	0.13463	0.7163974984860814	0.71582	1.77884305262	0.91374	0.91669100523	0.98061	D	0.018486	0.14891	T	-0.186331	0.22798	T	-0.505428	0.21785	T	0.864430676400788	0.51459	D	0.975002	0.91107	D	0.1619377	0.36236	0.1629017	0.37816	0.1619377	0.36236	0.1629017	0.37816	-10.165	0.76340	D	.	.	0.990	0.93507	P	.;.;.	.;.;.	5.368506	0.90010	31	0.99920868308788402	0.98721	0.99180	0.92409	D	AEFBI	0.912600	0.87345	D	0.658390178150991	0.76912	6.574868	0.70769665526324	0.82963	7.898997	0.999999999998965	0.74766	0.67177	0.52595	0	0.546412	0.12157	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.66	5.66	0.87293	9.564000	0.97283	11.869000	0.98523	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:1.0:0.0	19.759	0.96302	677	0.60274	Zinc finger C2H2-type;Zinc finger C2H2-type;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	1936.53	71	chr9	106974252	.	G	A	1936.53	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-4.743;DP=654;ExcessHet=1.383;FS=265.935;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=4.14;ReadPosRankSum=2.19;SOR=9.981	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:100,42:142:99:0|1:106974250_T_C:691,0,2917:106974250	3	0	3	1
chr9	114361765	114361765	G	A	exonic	AKNA	.	nonsynonymous SNV	AKNA:NM_001317952:exon8:c.C1706T:p.T569M,AKNA:NM_001317950:exon9:c.C2063T:p.T688M,AKNA:NM_030767:exon9:c.C2063T:p.T688M	.	410	1089	22	1	0	24	0.0108992	.	.	.	2826338	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.015	.	0.0068	0.00519169	0.0065	0.0015	0.0055	0.0001	0.0079	0.0088	0.0100	0.0035	0.0066752	1032	154602	rs45550039	0.0077	0.0077	0.0077	0.0076	0.0199	0.0076	0.0075	0.0169	0.0158	0.0017	0.0070	0.0065	2.519e-05	0.0083	0.0199	0.0085	0.0075	0.0030	0.0058	0.0058	0.0062	0.0054	0.0082	0.0055	0.0054	0.0074	0.0072	0.0013	0	0.0082	0.0072	0.0002	0.0103	0.0068	0.0079	0.0066	0.0029	0.129	0.27904	T	0.127	0.35455	T	0.036	0.20732	B	0.011	0.15521	B	0.234282	0.03539	N	1.544550	1	0.08975	N	1.375	0.34280	L	1.43	0.32958	T	-2.0	0.46503	N	0.107	0.13055	-1.0391	0.17587	T	0.019	0.07986	T	10	0.0032791793	0.00056	T	.	.	.	0.015	0.02232	.	.	0.604686531655	0.60152	0.10726145820988174	0.10655	0.0836533388131	0.09433	0.260488629341	0.04949	T	0.002514	0.01904	T	-0.648514	0.00074	T	-0.692646	0.06237	T	0.00118282534707189	0.00012	T	0.482752	0.14626	T	0.013942108	0.00075	0.03025895	0.01460	0.013942108	0.00075	0.03025895	0.01459	-5.684	0.44013	T	.	.	0.074	0.06341	B	.;.;.;.;.	.;.;.;.;.	-0.182056	0.03184	0.523	0.38005468494702371	0.02538	0.05762	0.11693	N	AEFBCI	0.034765	0.04364	N	-1.31496623235112	0.03503	0.1565954	-1.3568662141723	0.03725	0.1743749	0.999996869454886	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.97	-2.72	0.05616	-0.658000	0.05429	-0.483000	0.08907	-0.897000	0.02353	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4083:0.134:0.3203:0.1374	1.595	0.02502	702	0.57624	.;.;.;.;.	.	.	.	.	rs45550039	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.07143	1827.83	34	chr9	114361765	.	G	A	1827.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.79;DP=282;ExcessHet=0;FS=6.584;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.58;ReadPosRankSum=0.962;SOR=1.322	GT:AD:DP:GQ:PL	0/1:38,66:104:99:1838,0,786	6	0	1	0
chr9	121023460	121023460	G	T	exonic	C5	.	nonsynonymous SNV	C5:NM_001317163:exon10:c.C1078A:p.L360M,C5:NM_001317164:exon10:c.C1060A:p.L354M,C5:NM_001735:exon10:c.C1060A:p.L354M	C5 deficiency	0	1519	3	0	0	3	0.000986518	.	.	.	711738	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.149	.	0.0024	0.000998403	0.0052	0.0003	0.0006	0	0.0274	0.0063	0.0132	0.0002	0.0044437	687	154602	rs34552775	0.0036	0.0036	0.0034	0.0037	0.0031	0.0035	0.0034	0.0030	0.0029	0.0003	0.0012	0.0042	0	0.0258	0.0029	0.0031	0.0034	0.0003	0.0045	0.0046	0.0035	0.0056	0.0049	0.0043	0.0041	0.0044	0.0043	0.0003	0	0.0007	0.0049	0	0.0291	0	0.0049	0.0057	0	0.011	0.55530	D	0.025	0.56192	D	0.997	0.70673	D	0.916	0.65201	D	0.000246	0.46924	D	0.147796	0.879377	0.35719	D	3.36	0.91202	M	1.21	0.37230	T	-1.39	0.34397	N	0.346	0.38746	-0.6816	0.61298	T	0.197	0.55201	T	10	0.0069331825	0.00158	T	.	.	.	0.149	0.39377	.	.	0.44750879378	0.44372	0.690322127356014	0.68972	0.427738866487	0.43110	0.572914481163	0.49089	T	0.149609	0.48868	T	-0.426661	0.01553	T	-0.378539	0.35892	T	0.198847398161888	0.20353	T	0.750425	0.37198	T	0.31985053	0.54628	0.15409584	0.36181	0.31985053	0.54628	0.15409584	0.36180	-6.446	0.49868	T	.	.	0.184	0.39865	B	.	.	3.093698	0.41662	21.4	0.99632504173630376	0.76142	0.33573	0.24860	N	AEFGBHCI	0.301270	0.40984	N	0.310144752404355	0.56669	3.831933	0.184187195859809	0.48979	3.106916	0.999997342182195	0.74766	0.65861	0.49226	0	0.688826	0.66785	0	0.615948	0.41167	0	0.759125	0.99760	0	.	.	5.64	2.75	0.31439	0.201000	0.17074	1.470000	0.26746	0.676000	0.76740	0.049000	0.21372	0.851000	0.27392	1.000000	0.97212	0.2213:0.1441:0.6346:0.0	5.786	0.17599	951	0.11083	.	.	.	.	.	rs34552775	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	545.44	34	chr9	121023460	.	G	T	545.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.582;DP=258;ExcessHet=0;FS=0.895;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.82;ReadPosRankSum=0.504;SOR=0.56	GT:AD:DP:GQ:PL	0/1:54,26:80:99:556,0,1340	6	0	1	0
chr9	122390342	122390342	G	A	exonic	PTGS1	.	nonsynonymous SNV	PTGS1:NM_001271164:exon9:c.G1297A:p.V433I,PTGS1:NM_001271165:exon9:c.G1114A:p.V372I,PTGS1:NM_000962:exon10:c.G1441A:p.V481I,PTGS1:NM_001271166:exon10:c.G1003A:p.V335I,PTGS1:NM_001271367:exon10:c.G1003A:p.V335I,PTGS1:NM_080591:exon10:c.G1330A:p.V444I,PTGS1:NM_001271368:exon11:c.G1255A:p.V419I	.	412	1099	10	1	0	12	0.00542986	.	.	.	3185198	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.250	.	0.0058	0.00658946	0.0076	0.0020	0.0057	0.0004	0.0068	0.0100	0.0057	0.0065	0.0073932	1143	154602	rs5794	0.0082	0.0082	0.0081	0.0082	0.0088	0.0080	0.0080	0.0086	0.0086	0.0024	0.0058	0.0118	0.0003	0.0074	0.0064	0.0088	0.0072	0.0076	0.0063	0.0063	0.0061	0.0064	0.0086	0.0060	0.0058	0.0080	0.0078	0.0025	0	0.0080	0.0081	0	0.0051	0.0136	0.0086	0.0095	0.0085	0.004	0.78490	D	0.01	0.76473	D	0.1	0.25713	B	0.108	0.31289	B	0.000066	0.52346	D	0.197844	0.963965	0.26002	N	0	0.06538	N	2.99	0.09262	T	-0.92	0.25118	N	0.225	0.25377	-1.0157	0.25110	T	0.012	0.04747	T	10	0.009871095	0.00221	T	.	.	.	0.250	0.55888	.	.	0.442363741745	0.43858	0.632608548182357	0.63194	0.271975426216	0.29707	0.484568476677	0.36686	T	0.136546	0.46898	T	-0.416541	0.01800	T	-0.360721	0.37969	T	0.0620336465735846	0.07485	T	0.873013	0.60027	D	0.2699408	0.50066	0.15628308	0.36596	0.2699408	0.50066	0.15628308	0.36595	-1.917	0.02914	T	.	.	0.105	0.24054	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.622330	0.34083	19.53	0.99004802753294774	0.50231	0.17537	0.19880	N	AEFDGBCIJ	0.092179	0.18663	N	-0.362090131955795	0.26831	1.467337	-0.184664653741837	0.32098	1.822901	0.999999998826456	0.74766	0.740787	0.97801	0	0.696367	0.67918	0	0.651303	0.49530	0	0.635259	0.50027	0	.	.	5.38	4.25	0.49658	7.512000	0.80617	8.123000	0.76630	-0.116000	0.14526	1.000000	0.71638	1.000000	0.68203	0.830000	0.39126	0.9178:0.0:0.0822:0.0	9.787	0.39849	896	0.25515	.;.;.;.;.;.;.	.	.	PTGS1	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	0	0	1	0	0.014617	0.030303	0.005435	0.020468	0.000000	0.017241	0.015337	0.015152	0.1429	1460.04	35	chr9	122390342	.	G	A	1460.04	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.662;DP=255;ExcessHet=0.3476;FS=0.703;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=12.7;ReadPosRankSum=0.619;SOR=0.607	GT:AD:DP:GQ:PL	0/1:36,44:80:99:1044,0,811	5	0	2	0
chr9	127925153	127925153	C	T	exonic	PIP5KL1	.	nonsynonymous SNV	PIP5KL1:NM_173492:exon4:c.G262A:p.E88K,PIP5KL1:NM_001135219:exon9:c.G871A:p.E291K	.	.	.	.	.	.	.	.	.	.	.	2318586	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.043	0.00619792367682	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1234986475	3.42e-06	3.42e-06	4.084e-06	2.75e-06	2.519e-05	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	2.519e-05	0	0	3.597e-06	0	0	6.57e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.571	0.10447	T	0.718	0.05380	T	0.047	0.21998	B	0.017	0.18140	B	0.470601	0.12283	N	0.752780	1	0.08975	N	0.635	0.15989	N	1.59	0.28836	T	-0.27	0.14000	N	0.181	0.20528	-1.0135	0.25816	T	0.048	0.20592	T	10	0.07915956	0.12701	T	0.006198	0.16259	T	0.043	0.11576	0.466	0.53729	0.364926071151	0.36103	0.33954964255489817	0.33867	0.447885501735	0.44639	0.324399471283	0.14087	T	0.006224	0.05657	T	-0.340506	0.05353	T	-0.557762	0.16587	T	0.103842085350542	0.12774	T	0.865113	0.56350	D	0.10497373	0.24818	0.08688312	0.20157	0.10497373	0.24818	0.08688312	0.20157	-7.471	0.75963	T	.	.	0.070	0.04159	B	.;.	.;.	1.987530	0.25252	16.69	0.96211603383630429	0.29057	0.09061	0.14891	N	AEFDGBI	0.107416	0.21401	N	-0.667026083358548	0.16966	0.8690487	-0.58029642899333	0.20007	1.076008	0.999881131616689	0.44867	0.617157	0.39670	1	0.550933	0.16991	0	0.786243	0.99158	0	0.616125	0.45549	0	.	.	4.83	2.78	0.31702	1.916000	0.39617	0.588000	0.19789	0.549000	0.26987	0.130000	0.23345	0.001000	0.17328	0.697000	0.34049	0.1551:0.6939:0.1509:0.0	9.792	0.39880	287	0.88635	Phosphatidylinositol-4-phosphate 5-kinase, core|Phosphatidylinositol-4-phosphate 5-kinase, core|Phosphatidylinositol-4-phosphate 5-kinase, core;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	521.45	35	chr9	127925153	.	C	T	521.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.127;DP=267;ExcessHet=0;FS=2.003;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.69;ReadPosRankSum=-0.005;SOR=0.439	GT:AD:DP:GQ:PL	0/1:52,26:78:99:532,0,1250	6	0	1	0
chr9	128720441	128720441	C	T	exonic	PKN3	.	nonsynonymous SNV	PKN3:NM_001317926:exon22:c.C2461T:p.R821C	.	413	1104	5	0	0	5	0.00225938	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0088	0.00878594	0.0049	0.0237	0.0116	0.0143	0	0.0011	0.0044	0.0006	0.004573	707	154602	rs7874787	0.0022	0.0022	0.0023	0.0020	0.0215	0.0021	0.0021	0.0202	0.0197	0.0215	0.0097	0.0045	0.0143	3.804e-05	0.0023	0.0009	0.0045	0.0008	0.0078	0.0079	0.0078	0.0078	0.0228	0.0075	0.0073	0.0216	0.0212	0.0228	0	0.0058	0.0055	0.0099	0	0	0.0009	0.0090	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	0.002014	0.000000	0.004076	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	1134.45	36	chr9	128720441	.	C	T	1134.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.404;DP=280;ExcessHet=0;FS=0.793;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.75;ReadPosRankSum=0.76;SOR=0.74	GT:AD:DP:GQ:PL	0/1:43,46:89:99:1145,0,1047	6	0	1	0
chr9	128721389	128721389	A	G	exonic	ZDHHC12	.	nonsynonymous SNV	ZDHHC12:NM_001318015:exon5:c.T761C:p.V254A,ZDHHC12:NM_001318020:exon5:c.T574C:p.S192P,ZDHHC12:NM_001318023:exon5:c.T593C:p.V198A,ZDHHC12:NM_032799:exon5:c.T596C:p.V199A	.	407	1110	5	0	0	5	0.00224719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	.	0.0083	0.00878594	0.0064	0.0272	0.0219	0.0188	0	0.0019	0.0093	0.0003	0.0036998	572	154602	rs78428039	0.0021	0.0021	0.0023	0.0019	0.0213	0.0020	0.0020	0.0200	0.0195	0.0213	0.0091	0.0045	0.0139	3.909e-05	0.0024	0.0009	0.0046	0.0007	0.0079	0.0079	0.0079	0.0078	0.0230	0.0075	0.0073	0.0218	0.0213	0.0230	0	0.0058	0.0055	0.0099	0	0	0.0009	0.0099	0.0004	1.0	0.00964	T	0.524	0.10317	T	0.0	0.02946	B	0.0	0.01387	B	0.002099	0.37271	N	0.257341	1	0.81001	D	.	.	.	1.99	0.21666	T	1.21	0.01092	N	0.023	0.00770	-0.9843	0.33998	T	0.006	0.01981	T	10	0.004037082	0.00078	T	.	.	.	0.028	0.06331	.	.	0.0954503805726	0.09146	0.5090375167872353	0.50825	0.213371676131	0.23852	0.463133275509	0.33740	T	0.002093	0.04698	T	-0.604467	0.00137	T	-0.623466	0.10915	T	0.00152901731071866	0.00015	T	0.326967	0.06756	T	0.042194765	0.06354	0.034689106	0.02580	0.042194765	0.06354	0.034689106	0.02579	-2.362	0.04906	T	.	.	0.074	0.04975	B	.;.	.;.	1.559569	0.19980	14.53	0.62980339162813026	0.07103	0.40521	0.26455	N	AEFGBCI	0.112235	0.22191	N	-0.871352598519527	0.11528	0.5567882	-0.682448835580353	0.17400	0.9250269	0.999999256660244	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	4.81	2.93	0.33092	1.855000	0.39018	3.874000	0.40203	-0.103000	0.15852	1.000000	0.71638	1.000000	0.68203	0.526000	0.29613	0.2731:0.1559:0.5709:0.0	4.816	0.12733	0	0.99858	Palmitoyltransferase, DHHC domain;Palmitoyltransferase, DHHC domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002022	0.000000	0.004087	0.000000	0.000000	0.000000	0.003106	0.000000	0.07143	704.63	33	chr9	128721389	.	A	G	704.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.636;DP=228;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.58;ReadPosRankSum=1.37;SOR=0.826	GT:AD:DP:GQ:PL	0/1:26,30:56:99:715,0,639	6	0	1	0
chr9	131117828	131117828	T	C	exonic	AIF1L	.	nonsynonymous SNV	AIF1L:NM_001185096:exon5:c.T275C:p.I92T,AIF1L:NM_031426:exon5:c.T275C:p.I92T,AIF1L:NM_001185095:exon6:c.T353C:p.I118T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.829	0.086331759809	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.002	0.83351	D	0.962	0.73220	D	0.744	0.74454	P	0.000000	0.84330	D	0.000000	1	0.81001	D	3.04	0.86592	M	0.78	0.50976	T	-4.79	0.80595	D	0.967	0.98065	-0.0997	0.80104	T	0.377	0.73438	T	10	0.9224597	0.91598	D	0.086332	0.74714	D	0.829	0.94579	.	.	0.805461841073	0.80364	0.7238422849693593	0.72328	1.03534464927	0.75567	0.843075454235	0.88563	D	0.31304	0.76002	T	0.321721	0.84592	D	0.224353	0.84391	D	0.996974255464703	0.90488	D	0.961204	0.90184	D	0.8458817	0.87033	0.71896714	0.83409	0.8458817	0.87034	0.71896714	0.83410	-10.81	0.84118	D	.	.	0.963	0.90501	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.555044	0.71721	25.7	0.99846229060438119	0.92576	0.93631	0.58748	D	AEFGBCI	0.940799	0.94325	D	0.878168267895768	0.90649	10.50113	0.839486138280923	0.92388	11.39726	0.999999999999895	0.74766	0.67177	0.52595	0	0.563428	0.19063	0	0.702456	0.68683	0	0.654926	0.60358	0	.	.	5.74	5.74	0.90070	7.991000	0.87898	7.825000	0.69893	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:0.0:1.0	15.223	0.73020	358	0.85037	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	33.93	34	chr9	131117828	.	T	C	33.93	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-5.199;DP=358;ExcessHet=0;FS=142.412;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=0.19;ReadPosRankSum=1.83;SOR=7.167	GT:AD:DP:GQ:PL	0/1:141,35:176:44:44,0,2880	6	0	1	0
chr9	131290023	131290023	G	A	exonic	PLPP7	.	nonsynonymous SNV	PLPP7:NM_032728:exon1:c.G26A:p.R9H	.	430	1076	15	1	0	17	0.00783771	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.0906438553466	0.0025	0.00139776	0.0030	0.0009	0.0029	0.0001	0.0002	0.0040	0.0066	0.0025	0.0027619	427	154602	rs148406586	0.0032	0.0031	0.0032	0.0032	0.0055	0.0031	0.0031	0.0039	0.0034	0.0008	0.0030	0.0054	0	0.0006	0.0055	0.0034	0.0036	0.0032	0.0025	0.0025	0.0028	0.0023	0.0037	0.0023	0.0023	0.0032	0.0031	0.0008	0	0.0037	0.0069	0	0.0003	0.0034	0.0036	0.0047	0.0027	0.0	0.91255	D	0.064	0.44905	T	0.995	0.67487	D	0.719	0.54822	P	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	.	.	.	1.55	0.53943	T	-1.07	0.43334	N	0.57	0.67218	-0.6790	0.61419	T	0.216	0.57771	T	10	0.008685917	0.00197	T	0.090644	0.75558	D	0.142	0.37995	.	.	0.243187853663	0.23924	0.4759166090050502	0.47510	1.3449225568	0.83958	0.681076288223	0.64423	T	0.036995	0.24313	T	-0.273799	0.11338	T	-0.164565	0.57939	T	0.0267855057481218	0.01514	T	0.945705	0.79334	D	0.40508756	0.61083	0.2773503	0.53687	0.40508756	0.61084	0.2773503	0.53686	-6.118	0.47256	T	.	.	0.450	0.66012	A	.;.	.;.	5.327316	0.89404	30	0.99902820301859363	0.97426	0.79990	0.39750	D	AEFDGBCI	0.746029	0.68852	D	0.350452695997914	0.58764	4.050679	0.304255024011975	0.55787	3.741761	0.99999999991123	0.74766	0.608746	0.35421	0	0.588066	0.40923	0	0.584781	0.30282	0	0.605231	0.38476	0	.	.	5.38	4.47	0.53770	7.253000	0.77742	9.523000	0.80936	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.914000	0.44937	0.0:0.0:0.8511:0.1489	14.374	0.66429	371	0.84287	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005040	0.005051	0.005435	0.000000	0.000000	0.008621	0.009146	0.000000	0.07143	545.83	24	chr9	131290023	.	G	A	545.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.384;DP=153;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=18.19;ReadPosRankSum=-0.181;SOR=0.582	GT:AD:DP:GQ:PL	0/1:9,21:30:99:556,0,195	6	0	1	0
chr9	132342716	132342716	A	C	exonic	SETX	.	nonsynonymous SNV	SETX:NM_001351527:exon5:c.T472G:p.L158V,SETX:NM_001351528:exon5:c.T472G:p.L158V,SETX:NM_015046:exon5:c.T472G:p.L158V	Amyotrophic lateral sclerosis 4, juvenile, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 1, Autosomal recessive	0	1510	12	0	0	12	0.00395778	.	.	.	316922	not_specified|Spinocerebellar_ataxia,_autosomal_recessive,_with_axonal_neuropathy_2|Amyotrophic_lateral_sclerosis_type_4|not_provided|SETX-related_disorder|Inborn_genetic_diseases|Hereditary_spastic_paraplegia	MedGen:CN169374|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002,Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433,Orphanet:357043|MedGen:C3661900|MedGen:CN239403|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.436	0.0834254667316	0.0040	0.00159744	0.0037	0.0005	0.0016	0	0.0057	0.0048	0.0044	0.0039	0.0035122	543	154602	rs145438764	0.0049	0.0049	0.0048	0.0050	0.0073	0.0048	0.0047	0.0055	0.0054	0.0007	0.0015	0.0016	0	0.0046	0.0073	0.0055	0.0038	0.0041	0.0035	0.0035	0.0033	0.0037	0.0054	0.0032	0.0031	0.0050	0.0048	0.0009	0	0.0008	0.0017	0	0.0070	0.0068	0.0054	0.0047	0.0039	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.994	0.82059	D	0.000016	0.62929	D	0.000000	0.955192	0.26343	N	1.1	0.28011	L	-1.75	0.83495	D	-1.17	0.29933	N	0.672	0.67995	-0.3144	0.74580	T	0.447	0.78258	T	10	0.019678175	0.00442	T	0.083425	0.74113	D	0.436	0.74093	.	.	0.731782196658	0.72939	0.5147643254081122	0.51399	0.434735674297	0.43601	0.707861721516	0.68283	T	0.248009	0.61775	T	-0.236844	0.15754	T	-0.110652	0.62560	T	0.0240957226691437	0.01157	T	0.806319	0.45525	T	0.33789864	0.56111	0.2739793	0.53322	0.33789864	0.56111	0.2739793	0.53321	-4.191	0.26621	T	0.7157691124839489	0.79643	0.283	0.51566	B	.	.	3.053818	0.40982	21.3	0.99828922786251617	0.91112	0.86125	0.45347	D	AEFDBI	0.164312	0.29069	N	0.175915006962457	0.50044	3.198333	0.121805812255643	0.45667	2.825761	0.933647200815611	0.27138	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.6	-0.0263	0.13257	1.752000	0.37977	1.816000	0.29002	0.745000	0.86679	1.000000	0.71638	0.999000	0.35428	1.000000	0.97212	0.4976:0.0:0.5024:0.0	10.761	0.45467	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	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	482.83	18	chr9	132342716	.	A	C	482.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.071;DP=180;ExcessHet=0;FS=1.237;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.38;ReadPosRankSum=2.02;SOR=0.504	GT:AD:DP:GQ:PL	0/1:16,23:39:99:493,0,371	6	0	1	0
chr9	133256248	133256248	G	A	exonic	ABO	.	unknown	UNKNOWN	.	421	1083	18	0	0	18	0.00824176	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.000599042	0.0012	0.0008	0.0008	0	0	0.0015	0.0047	0.0013	0.0010026	155	154602	rs200932155	0.0009	0.0009	0.0007	0.0010	0.0163	0.0008	0.0008	0.0136	0.0126	0.0008	0.0009	0.0067	2.519e-05	0	0.0163	0.0006	0.0017	0.0020	0.0008	0.0008	0.0008	0.0008	0.0021	0.0007	0.0007	0.0011	0.0009	0.0002	0	0.0010	0.0069	0	0	0.0136	0.0008	0.0043	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	0.010574	0.000000	0.006793	0.029240	0.000000	0.034483	0.003049	0.007576	0.07143	1234.49	36	chr9	133256248	.	G	A	1234.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.442;DP=339;ExcessHet=0;FS=0.646;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.82;ReadPosRankSum=-1.313;SOR=0.814	GT:AD:DP:GQ:PL	0/1:84,56:140:99:1245,0,1977	6	0	1	0
chr9	134701202	134701202	A	C	exonic	COL5A1	.	nonsynonymous SNV	COL5A1:NM_000093:exon4:c.A523C:p.K175Q,COL5A1:NM_001278074:exon4:c.A523C:p.K175Q	Ehlers-Danlos syndrome, classic type, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1935671	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.122	0.00725986070966	.	.	8.383e-06	0	8.741e-05	0	0	0	0	0	6.5e-06	1	154602	rs781080614	1.368e-06	1.368e-06	2.723e-06	0	2.237e-05	2.3e-07	9e-08	.	.	0	2.237e-05	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.444	0.09155	T	0.552	0.09522	T	0.37	0.34076	B	0.185	0.36047	B	0.000018	0.62929	U	0.069156	0.973487	0.39028	D	1.47	0.36993	L	4.42	0.02177	T	-1.26	0.31778	N	0.317	0.37717	-0.8497	0.51989	T	0.010	0.03811	T	10	0.28996295	0.46578	T	0.00726	0.19253	T	0.122	0.33800	0.594	0.72371	0.523906363308	0.52036	0.2921281076370494	0.29125	0.657173800572	0.58683	0.384732842445	0.22926	T	0.135332	0.46709	T	-0.305771	0.08126	T	-0.59413	0.13309	T	0.670764744281769	0.39372	D	0.927907	0.73631	D	0.22711709	0.45407	0.1188835	0.28697	0.22711709	0.45407	0.1188835	0.28696	-9.81	0.72766	D	.	.	0.168	0.37063	B	.;.	.;.	3.532458	0.49572	22.8	0.92673759451814997	0.22157	0.94594	0.61676	D	AEFGBI	0.580984	0.58118	D	0.11875829160235	0.47338	2.960918	0.227082751108879	0.51356	3.318793	0.999999854364743	0.74766	0.67177	0.52595	0	0.59043	0.45803	0	0.80507	0.99327	0	0.711	0.71501	0	.	.	4.92	4.92	0.64147	5.141000	0.64655	9.020000	0.78569	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.765000	0.36330	1.0:0.0:0.0:0.0	14.861	0.70014	940	0.13648	Laminin G domain|Laminin G domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1371.44	33	chr9	134701202	.	A	C	1371.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.234;DP=312;ExcessHet=0;FS=1.503;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.14;ReadPosRankSum=-1.18;SOR=0.534	GT:AD:DP:GQ:PL	0/1:56,57:113:99:1382,0,1340	6	0	1	0
chr9	137431290	137431291	AG	-	exonic	NOXA1	.	frameshift deletion	NOXA1:NM_001256068:exon6:c.585_586del:p.E196Dfs*6,NOXA1:NM_001256067:exon8:c.753_754del:p.E252Dfs*6,NOXA1:NM_006647:exon8:c.753_754del:p.E252Dfs*6	.	415	1101	6	0	0	6	0.00271739	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	.	0.0005	0	0.0002	0	0	0.0003	0	0.0028	0.0004269	66	154602	rs374881837	0.0003	0.0003	0.0002	0.0004	0.0040	0.0003	0.0003	0.0027	0.0023	2.987e-05	0.0001	0	0	3.857e-05	0.0040	0.0002	0.0006	0.0025	0.0002	0.0002	0.0002	0.0002	0.0017	0.0001	0.0001	0.0008	0.0006	2.405e-05	0	0.0001	0	0	0	0.0034	0.0002	0.0005	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004032	0.005051	0.006793	0.000000	0.000000	0.008621	0.000000	0.003788	0.07143	570.79	26	chr9	137431289	.	CAG	C	570.79	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.167;DP=180;ExcessHet=0;FS=1.515;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=20.39;ReadPosRankSum=0.83;SOR=0.412	GT:AD:DP:GQ:PL	0/1:13,15:28:99:581,0,490	6	0	1	0
chr9	137457794	137457794	C	T	exonic	NSMF	.	nonsynonymous SNV	NSMF:NM_001130969:exon3:c.G241A:p.G81S,NSMF:NM_001130970:exon3:c.G241A:p.G81S,NSMF:NM_001130971:exon3:c.G241A:p.G81S,NSMF:NM_001178064:exon3:c.G241A:p.G81S,NSMF:NM_015537:exon3:c.G241A:p.G81S	Hypogonadotropic hypogonadism 9 with or without anosmia	1	1517	4	0	0	4	0.00131666	.	.	.	415184	not_provided|NSMF-related_disorder|not_specified|Hypogonadotropic_hypogonadism_9_with_or_without_anosmia	MedGen:C3661900|.|MedGen:CN169374|MONDO:MONDO:0013911,MedGen:C3553842,OMIM:614838,Orphanet:478	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.014	0.0777455654442	.	0.000199681	0.0002	0	0	0	0	0.0002	0	0.0004	5.17e-05	8	154602	rs531757042	0.0001	0.0001	0.0001	0.0001	0.0014	9.408e-05	8.87e-05	0.0007	0.0005	6.182e-05	0.0002	0	2.712e-05	2.07e-05	0.0014	7.939e-05	0.0003	0.0003	9.847e-05	9.842e-05	0.0001	9.397e-05	0.0004	6.001e-05	4.875e-05	7.296e-05	4.239e-05	0	0	0.0002	0	0	0	0.0034	0.0001	0.0005	0.0004	0.396	0.12428	T	0.665	0.06427	T	0.047	0.29532	B	0.019	0.28043	B	0.504484	0.11912	N	0.774387	0.970873	0.25682	N	0.69	0.16971	N	0.95	0.43672	T	-0.07	0.08809	N	0.172	0.18376	-1.0821	0.06946	T	0.056	0.23450	T	9	0.020337522	0.00467	T	0.077746	0.72844	D	0.014	0.01968	0.238	0.16912	0.208000267992	0.20380	0.6212760885018114	0.62060	0.680826684377	0.60018	0.441346406937	0.30761	T	0.182644	0.53472	T	-0.514885	0.00471	T	-0.663115	0.08058	T	0.0281604714691639	0.01712	T	0.887511	0.61533	D	0.06880203	0.15018	0.0782601	0.17513	0.06880203	0.15018	0.0782601	0.17513	-3.19	0.12914	T	0.12639131310181814	0.12751	0.081	0.12655	B	.;.;.;.;.;.	.;.;.;.;.;.	2.441583	0.31422	18.74	0.98817718971976976	0.46736	0.58555	0.30673	D	AEFGBCI	.	.	.	-0.489391490228273	0.22428	1.197497	-0.378915861142675	0.25627	1.410451	0.999916174477668	0.45857	0.766844	0.99359	0	0.662677	0.63036	0	0.851219	0.99655	0	0.699875	0.68795	0	.	.	4.62	1.21	0.20240	0.107000	0.15212	3.132000	0.36445	0.583000	0.30283	0.426000	0.26377	0.999000	0.35428	0.961000	0.51904	0.0:0.284:0.49:0.2259	5.471	0.15967	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	0	0	.	.	.	.	.	.	.	.	0.08333	643.27	36	chr9	137457794	.	C	T	643.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.645;DP=222;ExcessHet=0;FS=2.359;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.61;ReadPosRankSum=-1.449;SOR=1.071	GT:AD:DP:GQ:PL	0/1:23,28:51:99:653,0,479	5	0	1	1
chr9	137461990	137461990	C	T	exonic	PNPLA7	.	nonsynonymous SNV	PNPLA7:NM_152286:exon31:c.G3622A:p.G1208S,PNPLA7:NM_001098537:exon32:c.G3697A:p.G1233S	.	410	1109	1	2	0	5	0.00224921	.	.	.	3376691	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.222	0.0958148942985	.	.	2.793e-05	0	0	0	0	5.058e-05	0	0	1.29e-05	2	154602	rs772857527	4.413e-05	4.857e-05	4.251e-05	4.577e-05	0.0005	3.536e-05	3.218e-05	0.0001	7.625e-05	0	2.273e-05	0	0	0	0.0005	4.689e-05	6.668e-05	4.724e-05	3.285e-05	3.283e-05	5.14e-05	1.345e-05	6.543e-05	1.261e-05	7.98e-06	1.972e-05	1.124e-05	0	0	6.543e-05	0	0	0	0	5.88e-05	0	0	0.07	0.36709	T	0.176	0.30729	T	0.99	0.90584	D	0.562	0.79672	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.745	0.80253	M	0.11	0.61208	T	-3.04	0.62863	D	0.27	0.30574	0.167	0.85343	D	0.543	0.83180	D	10	0.28495118	0.46077	T	0.095815	0.76495	D	0.222	0.51872	0.484	0.56621	0.403609169532	0.39974	0.6820294031966923	0.68141	0.413300811433	0.42045	0.466287642717	0.34171	T	0.075027	0.35081	T	0.047578	0.58030	T	-0.169434	0.57494	T	0.81663578748703	0.47524	D	0.883212	0.60517	D	0.40223768	0.60888	0.28211483	0.54197	0.40223768	0.60888	0.28211483	0.54196	-7.502	0.57624	D	.	.	0.112	0.27069	B	.;.	.;.	4.239124	0.64256	24.7	0.99649760256622621	0.77192	0.91226	0.53108	D	ALL	0.734879	0.68087	D	0.268715627341322	0.54569	3.622278	0.183156667498353	0.48923	3.102008	1.0	0.98316	0.608966	0.35542	0	0.093493	0.02558	3	0.503968	0.08637	0	0.505526	0.08623	0	.	.	4.47	4.47	0.53770	5.749000	0.68341	3.954000	0.40696	0.526000	0.24426	0.700000	0.28626	0.600000	0.25714	0.940000	0.48062	0.0:1.0:0.0:0.0	16.483	0.84016	994	0.00715	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	864.49	35	chr9	137461990	.	C	T	864.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.675;DP=249;ExcessHet=0;FS=0.949;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.9;ReadPosRankSum=2.78;SOR=0.507	GT:AD:DP:GQ:PL	0/1:32,35:67:99:875,0,763	6	0	1	0
chr9	137464170	137464170	A	G	exonic	PNPLA7	.	nonsynonymous SNV	PNPLA7:NM_152286:exon27:c.T3107C:p.I1036T,PNPLA7:NM_001098537:exon28:c.T3182C:p.I1061T	.	423	1097	2	0	0	2	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.705	0.368857082537	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.421e-06	3.42e-06	2.723e-06	4.126e-06	0.0002	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0.0002	3.597e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.003	0.76473	D	0.881	0.57599	P	0.794	0.57880	P	0.000020	0.62929	D	0.115400	0.999999	0.58761	D	1.535	0.38868	L	-0.86	0.74477	T	-4.07	0.74661	D	0.696	0.70088	-0.0647	0.80894	T	0.469	0.79556	T	10	0.78958523	0.78543	D	0.368857	0.92696	D	0.705	0.89422	0.63	0.76588	0.43965937752	0.43585	0.8437339989186433	0.84334	0.490554936161	0.47772	0.623003602028	0.56153	T	0.356649	0.72347	T	0.187637	0.72746	D	0.0317505	0.72391	D	0.99297970533371	0.83607	D	0.961804	0.85620	D	0.25496694	0.48528	0.40335515	0.64793	0.25496694	0.48528	0.40335515	0.64793	-11.907	0.84394	D	.	.	0.696	0.74693	P	.;.	.;.	3.401445	0.47146	22.4	0.99703136483218369	0.80798	0.98110	0.79682	D	AEFDBCI	0.916076	0.88177	D	0.489353833052831	0.66466	4.953863	0.44238466308232	0.64228	4.673367	0.999999999955657	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.567892	0.33627	0	.	.	3.86	3.86	0.43689	6.058000	0.70754	11.225000	0.89902	0.754000	0.88378	0.935000	0.32453	1.000000	0.68203	0.437000	0.27605	1.0:0.0:0.0:0.0	12.126	0.53221	994	0.00715	Patatin-like phospholipase domain|Patatin-like phospholipase domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1485.44	35	chr9	137464170	.	A	G	1485.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.64;DP=308;ExcessHet=0;FS=0.687;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.38;ReadPosRankSum=-0.289;SOR=0.823	GT:AD:DP:GQ:PL	0/1:59,61:120:99:1496,0,1404	6	0	1	0
chr10	7172037	7172037	C	T	exonic	SFMBT2	.	nonsynonymous SNV	SFMBT2:NM_001018039:exon19:c.G2273A:p.R758Q,SFMBT2:NM_001029880:exon19:c.G2273A:p.R758Q	.	428	1075	18	1	0	20	0.00921659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	.	0.0006	0.00259585	0.0055	0.0013	0.0037	0	0	0.0038	0.0033	0.0131	0.0018887	292	154602	rs201053114	0.0013	0.0013	0.0011	0.0016	0.0085	0.0013	0.0013	0.0080	0.0077	0.0001	0.0009	0.0004	0	6.098e-05	0.0052	0.0009	0.0022	0.0085	0.0013	0.0013	0.0011	0.0015	0.0085	0.0012	0.0011	0.0064	0.0057	0.0003	0	0.0025	0.0006	0.0002	0	0.0102	0.0014	0.0057	0.0085	0.231	0.18246	T	0.23	0.25135	T	0.056	0.22806	B	0.005	0.11217	B	0.002536	0.36389	N	0.303615	0.996878	0.43474	D	2.045	0.56016	M	2.52	0.14160	T	-1.23	0.31170	N	0.236	0.26596	-1.0365	0.18388	T	0.023	0.09741	T	10	0.00459376	0.00096	T	.	.	.	0.029	0.06676	.	.	0.082315109003	0.07666	0.375104759701921	0.37424	0.148348851149	0.16729	0.665184378624	0.62151	T	0.012759	0.11155	T	-0.592873	0.00161	T	-0.618	0.11341	T	0.0140655360192329	0.00273	T	0.89551	0.63622	D	0.07200254	0.15984	0.051237382	0.08204	0.07200254	0.15984	0.051237382	0.08203	-7.055	0.54435	T	.	.	0.098	0.16582	B	.;.	.;.	3.361552	0.46415	22.3	0.99659400991749314	0.77820	0.83120	0.42265	D	AEFDBCI	0.321095	0.42400	N	-0.291686309578214	0.29468	1.634425	-0.117831738826574	0.34671	1.997013	0.571829942565966	0.21499	0.67177	0.52595	0	0.702456	0.74545	0	0.645312	0.48771	0	0.564101	0.26826	0	.	.	5.25	4.34	0.51267	1.531000	0.35624	1.107000	0.24123	0.599000	0.40250	0.977000	0.34929	0.540000	0.25410	0.887000	0.42601	0.0:0.7057:0.142:0.1523	7.070	0.24350	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	0.006091	0.005263	0.005450	0.014620	0.000000	0.008772	0.006250	0.000000	0.07143	269.49	20	chr10	7172037	.	C	T	269.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.207;DP=163;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.25;ReadPosRankSum=0.723;SOR=0.74	GT:AD:DP:GQ:PL	0/1:11,11:22:99:280,0,271	6	0	1	0
chr10	15786605	15786605	T	C	exonic	MINDY3	.	nonsynonymous SNV	MINDY3:NM_001318330:exon12:c.A553G:p.I185V,MINDY3:NM_024948:exon13:c.A1072G:p.I358V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.00764646248318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.884e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.33585	T	0.144	0.43721	T	0.854	0.47077	P	0.561	0.49582	P	0.000000	0.84330	D	0.046090	0.999998	0.58761	D	.	.	.	1.35	0.34648	T	-0.79	0.21860	N	0.351	0.39254	-0.9547	0.40149	T	0.134	0.44856	T	10	0.33790162	0.50904	T	0.007646	0.20299	T	0.104	0.29647	0.417	0.45709	0.117191471859	0.11215	0.29488749243866924	0.29401	0.110849007013	0.12512	0.790306091309	0.80490	T	0.073	0.34616	T	-0.123486	0.32554	T	-0.415155	0.31631	T	0.655807673931122	0.38713	D	0.927007	0.73102	D	0.16934788	0.37445	0.1360903	0.32565	0.16934788	0.37445	0.1360903	0.32564	-10.573	0.77266	D	.	.	0.133	0.49048	B	.;.	.;.	3.708980	0.52937	23.3	0.99883937248878718	0.95970	0.95907	0.66669	D	AEFBI	0.489796	0.52755	N	0.494721475490579	0.66780	4.994687	0.539890980461801	0.70698	5.543418	0.999999789403579	0.74766	0.732398	0.92422	0	0.666794	0.63253	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.52	5.52	0.82153	4.977000	0.63509	6.200000	0.54880	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.925	0.79395	905	0.23532	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3571	191.04	56	chr10	15786605	.	T	C	191.04	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-2.364;DP=461;ExcessHet=4.7409;FS=333.852;MLEAC=5;MLEAF=0.357;MQ=60;MQRankSum=0;QD=0.49;ReadPosRankSum=-0.169;SOR=9.21	GT:AD:DP:GQ:PL	0/1:59,22:81:77:77,0,1031	2	0	5	0
chr10	24473904	24473904	G	A	exonic	KIAA1217	.	nonsynonymous SNV	KIAA1217:NM_001282769:exon2:c.G677A:p.R226H,KIAA1217:NM_001282770:exon2:c.G677A:p.R226H,KIAA1217:NM_001321681:exon2:c.G677A:p.R226H,KIAA1217:NM_001282767:exon6:c.G1523A:p.R508H,KIAA1217:NM_001282768:exon6:c.G1523A:p.R508H,KIAA1217:NM_019590:exon6:c.G1523A:p.R508H,KIAA1217:NM_001098500:exon7:c.G1283A:p.R428H	.	435	1062	23	2	0	27	0.0125523	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.531	.	0.0042	0.00279553	0.0057	0.0011	0.0034	0.0003	0.0032	0.0069	0.0044	0.0098	0.0056532	874	154602	rs41279868	0.0067	0.0067	0.0066	0.0067	0.0102	0.0066	0.0065	0.0097	0.0095	0.0011	0.0023	0.0024	5.038e-05	0.0042	0.0080	0.0072	0.0061	0.0102	0.0039	0.0039	0.0042	0.0037	0.0108	0.0037	0.0036	0.0085	0.0076	0.0007	0.0088	0.0024	0.0023	0.0002	0.0030	0.0068	0.0061	0.0061	0.0108	0.0	0.91255	D	0.005	0.92824	D	1.0	0.90584	D	0.999	0.97372	D	0.000000	0.84330	D	0.047397	0.999999	0.81001	D	2.485	0.72352	M	0.67	0.52187	T	-4.21	0.78046	D	0.783	0.81261	-0.4162	0.71513	T	0.263	0.63361	T	10	0.007798493	0.00177	T	.	.	.	0.531	0.80247	.	.	0.731578513301	0.72918	0.4624375204723641	0.46161	0.633570060492	0.57251	0.573865771294	0.49224	T	0.261078	0.89468	T	-0.0933595	0.37521	T	0.100938	0.76970	D	0.0433894866553355	0.04310	T	0.973903	0.93484	D	0.6997425	0.78042	0.53233963	0.72977	0.6997425	0.78044	0.53233963	0.72978	-8.704	0.76230	D	.	.	0.378	0.65221	A	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	5.210104	0.87424	29.2	0.99955902370276051	0.99975	0.99064	0.90698	D	AEFBCI	0.930736	0.91849	D	0.866259133105656	0.90014	10.21514	0.827265161731744	0.91621	10.98079	0.999999999319612	0.74766	0.693126	0.56070	0	0.670034	0.63936	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	5.37	5.37	0.76949	9.211000	0.94222	9.905000	0.82381	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.923000	0.45890	0.0:0.0:1.0:0.0	19.094	0.93225	943	0.12886	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006546	0.000000	0.006793	0.002924	0.000000	0.008621	0.003049	0.018939	0.1429	1896.34	36	chr10	24473904	.	G	A	1896.34	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.104;DP=330;ExcessHet=0.3476;FS=0.557;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=10.71;ReadPosRankSum=1.6;SOR=0.645	GT:AD:DP:GQ:PL	0/1:54,40:94:99:949,0,1323	5	0	2	0
chr10	27204498	27204498	T	C	exonic	ACBD5	.	nonsynonymous SNV	ACBD5:NM_001301254:exon9:c.A976G:p.I326V,ACBD5:NM_001301252:exon10:c.A1180G:p.I394V,ACBD5:NM_001352587:exon10:c.A1297G:p.I433V,ACBD5:NM_001271512:exon11:c.A1501G:p.I501V,ACBD5:NM_001301251:exon11:c.A1180G:p.I394V,ACBD5:NM_001301253:exon11:c.A1180G:p.I394V,ACBD5:NM_001352582:exon11:c.A1198G:p.I400V,ACBD5:NM_001352583:exon11:c.A1180G:p.I394V,ACBD5:NM_001352584:exon11:c.A1180G:p.I394V,ACBD5:NM_001352586:exon11:c.A1330G:p.I444V,ACBD5:NM_001352588:exon11:c.A1303G:p.I435V,ACBD5:NM_001042473:exon12:c.A1402G:p.I468V,ACBD5:NM_001352570:exon12:c.A1507G:p.I503V,ACBD5:NM_001352571:exon12:c.A1534G:p.I512V,ACBD5:NM_001352572:exon12:c.A1528G:p.I510V,ACBD5:NM_001352577:exon12:c.A1402G:p.I468V,ACBD5:NM_001352578:exon12:c.A1402G:p.I468V,ACBD5:NM_001352579:exon12:c.A1402G:p.I468V,ACBD5:NM_001352580:exon12:c.A1348G:p.I450V,ACBD5:NM_001352581:exon12:c.A1336G:p.I446V,ACBD5:NM_001352585:exon12:c.A1213G:p.I405V,ACBD5:NM_145698:exon12:c.A1507G:p.I503V,ACBD5:NM_001352568:exon13:c.A1561G:p.I521V,ACBD5:NM_001352569:exon13:c.A1540G:p.I514V,ACBD5:NM_001352573:exon13:c.A1486G:p.I496V,ACBD5:NM_001352574:exon13:c.A1435G:p.I479V,ACBD5:NM_001352575:exon13:c.A1435G:p.I479V,ACBD5:NM_001352576:exon13:c.A1435G:p.I479V	.	.	.	.	.	.	.	.	.	.	.	1077011	ACBD5-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.011	0.00312484831803	.	.	0.0004	0	0.0045	0	0	0	0	0	0.0003363	52	154602	rs772621096	9.03e-05	9.029e-05	9.393e-05	8.663e-05	0.0029	7.756e-05	7.3e-05	0.0025	0.0023	0	0.0029	0	0	0	0	1.799e-06	3.312e-05	0	7.884e-05	7.88e-05	0.0001	4.034e-05	0.0008	4.496e-05	3.512e-05	0.0005	0.0004	0	0	0.0008	0	0	0	0	0	0	0	0.254	0.17701	T	0.395	0.15255	T	0.783	0.44368	P	0.205	0.37080	B	0.000305	0.45977	N	0.241877	0.570854	0.36749	D	2.06	0.56677	M	2.36	0.34253	T	-0.39	0.14193	N	0.284	0.32148	-1.0522	0.13790	T	0.061	0.25383	T	10	0.009190261	0.00208	T	0.003125	0.06786	T	0.011	0.01250	.	.	0.442775082573	0.43898	0.09757736381252521	0.09688	0.107368357967	0.12116	0.484681159258	0.36702	T	0.014771	0.12515	T	-0.531338	0.00377	T	-0.538112	0.18482	T	0.0452595222798661	0.04650	T	0.850515	0.54589	D	0.03167814	0.03051	0.048455138	0.07201	0.042955823	0.06609	0.042826634	0.05189	-4.152	0.32559	T	0.0921755191099624	0.05928	0.066	0.04198	B	.;.;.;.;.	.;.;.;.;.	1.301724	0.17036	12.92	0.82080041629631928	0.14008	0.36703	0.25594	N	AEFBI	0.108111	0.21518	N	-0.431662278019326	0.24366	1.315145	-0.372333690979298	0.25825	1.422623	0.00693316079243253	0.11345	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.71	2.04	0.25787	0.006000	0.13051	0.452000	0.18532	0.665000	0.62972	0.504000	0.26986	0.999000	0.35428	0.949000	0.49496	0.0:0.3326:0.0:0.6674	9.973	0.40939	784	0.47045	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.1667	39.96	41	chr10	27204498	.	T	C	39.96	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-2.136;DP=330;ExcessHet=0.4139;FS=73.109;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.24;ReadPosRankSum=0.337;SOR=6.357	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,15:95:47:0|1:27204498_T_C:47,0,2564:27204498	4	0	2	1
chr10	46580201	46580203	GCT	-	exonic	SYT15	.	nonframeshift deletion	SYT15:NM_031912:exon2:c.45_47del:p.L21del,SYT15:NM_181519:exon2:c.45_47del:p.L21del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs368995487	0.0006	0.0030	0.0006	0.0006	0.0008	0.0006	0.0006	0.0006	0.0006	0.0005	0.0005	0.0007	0.0002	0.0007	0.0007	0.0006	0.0006	0.0008	7.767e-06	2.06e-05	0	1.606e-05	.	0	0	.	.	0	0	0	0	0	0.0001	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	82.6	8	chr10	46580200	.	GGCT	G	82.6	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.098;DP=123;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=35.84;MQRankSum=-1.29;QD=5.9;ReadPosRankSum=-0.156;SOR=1.093	GT:AD:DP:GQ:PL	0/1:11,3:14:93:93,0,453	6	0	1	0
chr10	47312688	47312688	C	A	exonic	GDF10	.	nonsynonymous SNV	GDF10:NM_004962:exon3:c.C1333A:p.P445T	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.904	0.049871565864	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.858e-06	8.209e-06	6.822e-06	6.894e-06	0.0002	3.47e-06	2.53e-06	3.018e-05	2.053e-05	0	0	0	0	0	0.0002	0	4.977e-05	7.02e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.77	0.83660	D	.	.	.	0.878	0.87590	.	.	.	.	.	.	.	0.93202055	0.92538	D	.	.	.	.	.	.	.	.	.	0.9986849763770298	0.99867	.	.	.	.	.	0.970565	0.99676	D	.	.	.	.	.	.	.	.	.	0.963004	0.86214	D	.	.	.	.	.	.	.	.	-13.132	0.89899	D	.	.	0.961	0.88157	P	.	.	4.972131	0.82291	27.8	.	.	.	.	.	.	0.948863	0.96092	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.480000	0.80148	7.645000	0.63394	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	.	.	.	976	0.04745	Transforming growth factor-beta, C-terminal|Transforming growth factor-beta, C-terminal|Transforming growth factor-beta, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	3931.23	34	chr10	47312688	.	C	A	3931.23	.	AC=2;AF=0.143;AN=14;DP=320;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=29.56;SOR=0.941	GT:AD:DP:GQ:PL	1/1:0,133:133:99:3952,399,0	6	1	0	0
chr10	49132145	49132145	C	T	exonic	FAM170B	.	nonsynonymous SNV	FAM170B:NM_001164484:exon2:c.G320A:p.C107Y	.	434	1014	71	3	0	77	0.0365796	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	.	0.0059	0.0325479	0.0536	0.0125	0.0049	0.0033	0	0.0094	0.0309	0.1208	0.0091331	1412	154602	rs41280539	0.0098	0.0094	0.0066	0.0130	0.1154	0.0096	0.0096	0.1134	0.1126	0.0159	0.0063	0.0220	0.0037	0	0.0479	0.0019	0.0137	0.1154	0.0099	0.0099	0.0080	0.0118	0.1161	0.0094	0.0093	0.1082	0.1050	0.0128	0.0329	0.0054	0.0271	0.0015	9.411e-05	0.0238	0.0023	0.0132	0.1161	0.117	0.28271	T	0.183	0.29153	T	0.627	0.40110	P	0.255	0.39216	B	0.070243	0.21551	N	0.438857	1	0.08975	N	1.89	0.50145	L	0.99	0.41750	T	-1.48	0.36189	N	0.078	0.05287	-1.0581	0.12235	T	0.050	0.21456	T	10	0.0017475188	0.00022	T	.	.	.	0.056	0.15993	.	.	.	.	0.36407451914370714	0.36321	.	.	0.465958029032	0.34127	T	0.011081	0.09929	T	-0.607948	0.00130	T	-0.549335	0.17389	T	0.00768038339090971	0.00089	T	0.523848	0.17156	T	0.07181237	0.15928	0.122336216	0.29510	0.07181237	0.15927	0.122336216	0.29509	-3.745	0.19985	T	.	.	0.210	0.43707	B	.	.	1.883759	0.23925	16.20	0.83146344675201278	0.14567	0.04853	0.10588	N	AEFDBCI	0.045601	0.07476	N	-0.557464624572793	0.20250	1.066141	-0.675040824452409	0.17586	0.9357502	0.99684125480696	0.35056	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.12	0.695	0.17231	0.530000	0.22742	0.576000	0.19656	0.596000	0.33519	0.000000	0.06391	0.000000	0.08366	0.327000	0.25133	0.1854:0.4277:0.1803:0.2066	1.061	0.01500	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.046078	0.069149	0.032787	0.079832	0.000000	0.023810	0.015957	0.000000	0.1429	3013.23	43	chr10	49132145	.	C	T	3013.23	.	AC=2;AF=0.143;AN=14;DP=376;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=30.13;SOR=0.775	GT:AD:DP:GQ:PL	1/1:0,100:100:99:3034,300,0	6	1	0	0
chr10	49933321	49933321	C	T	exonic	PARG	.	nonsynonymous SNV	PARG:NM_001303487:exon2:c.G803A:p.R268H,PARG:NM_001303486:exon3:c.G881A:p.R294H,PARG:NM_001324381:exon3:c.G881A:p.R294H,PARG:NM_003631:exon3:c.G1127A:p.R376H	.	432	941	149	0	0	149	0.0733629	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1243634145	3.406e-05	0.0007	3.32e-05	3.492e-05	0.0003	2.607e-05	2.349e-05	0.0002	0.0001	0.0003	0.0001	0	7.62e-05	3.887e-05	0	2.099e-05	1.678e-05	3.522e-05	0.0006	0.0061	0.0005	0.0007	0.0016	0.0005	0.0004	0.0013	0.0012	0.0016	0	0.0006	0	0	0.0003	0	0.0001	0.0010	0.0002	.	.	.	0.257	0.23231	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.02462	.	.	.	.	.	.	.	0.073026	0.10979	T	.	.	.	.	.	.	.	.	.	0.1798985972631501	0.17908	.	.	.	.	.	0.052451	0.29163	T	.	.	.	.	.	.	.	.	.	0.510149	0.16261	T	.	.	.	.	.	.	.	.	-4.524	0.31201	T	.	.	0.065	0.02038	B	.;.	.;.	0.608126	0.09765	6.533	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.518000	0.22554	-2.025000	0.04327	0.594000	0.32500	0.000000	0.06391	0.000000	0.08366	0.570000	0.30651	.	.	.	861	0.33516	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	147.52	35	chr10	49933321	.	C	T	147.52	.	AC=1;AF=0.071;AN=14;BaseQRankSum=5.53;DP=640;ExcessHet=0;FS=48.559;MLEAC=1;MLEAF=0.071;MQ=52.41;MQRankSum=-8.196;QD=0.68;ReadPosRankSum=-0.391;SOR=7.637	GT:AD:DP:GQ:PL	0/1:191,25:216:99:158,0,4813	6	0	1	0
chr10	71296686	71296686	G	A	exonic	UNC5B	.	nonsynonymous SNV	UNC5B:NM_001244889:exon14:c.G2401A:p.V801M,UNC5B:NM_170744:exon15:c.G2434A:p.V812M	.	425	1094	3	0	0	3	0.00136924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.414	0.0656074515641	7.7e-05	.	1.651e-05	0	0	0	0	3.007e-05	0	0	1.29e-05	2	154602	rs370153366	3.147e-05	3.147e-05	2.178e-05	4.125e-05	0.0001	2.412e-05	2.158e-05	3.982e-05	2.373e-05	0.0001	2.236e-05	0	0	0	0	3.237e-05	4.967e-05	2.319e-05	3.942e-05	3.94e-05	5.138e-05	2.689e-05	7.348e-05	1.715e-05	1.129e-05	2.846e-05	1.858e-05	2.412e-05	0	0	0	0	0	0	7.348e-05	0	0	0.032	0.45756	D	0.065	0.44702	T	1.0	0.90584	D	0.999	0.92359	D	0.000268	0.46590	D	0.142522	1	0.81001	D	2.7	0.79018	M	0.37	0.58468	T	-2.47	0.53898	N	0.88	0.90476	-0.2180	0.77204	T	0.396	0.74844	T	10	0.8108239	0.80368	D	0.065607	0.69628	D	0.414	0.72479	.	.	0.734323642297	0.73195	0.6870043408779415	0.68640	0.640975438989	0.57713	0.757858276367	0.75611	T	0.315777	0.68735	T	0.0652836	0.60270	T	0.0375268	0.72767	D	0.399973727340797	0.28941	T	0.938606	0.76932	D	0.21890455	0.44410	0.18387304	0.41405	0.21890455	0.44410	0.18387304	0.41404	-8.995	0.67666	D	.	.	0.860	0.80327	P	.;.	.;.	5.221189	0.87624	29.3	0.99892867485363579	0.96666	0.99528	0.97099	D	AEFBI	0.908432	0.86373	D	0.840422459185642	0.88555	9.62291	0.808417830832258	0.90370	10.37746	0.999999999999982	0.74766	0.732398	0.92422	0	0.563428	0.19063	0	0.743671	0.96076	0	0.586402	0.36253	0	.	.	5.14	5.14	0.70008	10.003000	0.99689	8.611000	0.77769	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	18.589	0.91160	900	0.24599	UPA domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	1645.25	34	chr10	71296686	.	G	A	1645.25	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.29;DP=301;ExcessHet=0.3476;FS=2.027;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=10.9;ReadPosRankSum=0.812;SOR=0.865	GT:AD:DP:GQ:PL	0/1:38,40:78:99:1060,0,888	5	0	2	0
chr10	71806223	71806223	C	T	exonic	CDH23	.	nonsynonymous SNV	CDH23:NM_001171933:exon10:c.C1400T:p.P467L,CDH23:NM_001171934:exon10:c.C1400T:p.P467L,CDH23:NM_022124:exon55:c.C8120T:p.P2707L	Deafness, autosomal recessive 12, Autosomal recessive;Usher syndrome, type 1D, Autosomal recessive, Digenic recessive;Usher syndrome, type 1D/F digenic, Autosomal recessive, Digenic recessive	0	1503	19	0	0	19	0.00628099	.	.	.	752240	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.335	.	.	0.00279553	0.0030	0	0.0008	0	0	0.0003	0	0.0104	0.0009573	148	154602	rs373230009	0.0006	0.0007	0.0004	0.0009	0.0093	0.0006	0.0006	0.0087	0.0085	0	0.0003	0	0	0	0.0042	6.486e-05	0.0009	0.0093	0.0004	0.0004	0.0003	0.0004	0.0083	0.0003	0.0003	0.0063	0.0055	2.406e-05	0	0.0003	0	0.0006	0	0.0034	5.881e-05	0.0005	0.0083	0.03	0.45393	D	0.003	0.76473	D	1.0	0.90584	D	0.989	0.78396	D	0.000000	0.84330	D	0.000000	1	0.81001	D	-0.725	0.01781	N	0.24	0.59583	T	-2.23	0.50012	N	0.972	0.98268	-0.7626	0.57264	T	0.206	0.56485	T	10	0.010227531	0.00228	T	.	.	.	0.335	0.65718	0.44	0.49484	0.865627351664	0.86432	0.6866559061639508	0.68605	0.296736206452	0.32059	0.759593367577	0.75868	T	0.02799	0.58006	T	-0.0948292	0.37278	T	0.0975471	0.76745	D	0.0676290445450662	0.08315	T	0.958604	0.84374	D	0.4887914	0.66431	0.3310389	0.58967	0.45600507	0.64422	0.29566696	0.55598	-5.729	0.47793	T	.	.	0.148	0.38390	B	.;.;.;.	.;.;.;.	5.020994	0.83447	28.0	0.99899295886099915	0.97124	0.92335	0.55474	D	AEFDGBHCI	0.948946	0.96110	D	0.420765350813866	0.62566	4.47446	0.484984844637473	0.66993	5.025127	1.0	0.98316	0.56387	0.32371	0	0.491513	0.07743	0	0.503968	0.08637	0	0.562822	0.20929	0	.	.	5.13	5.13	0.69729	7.869000	0.85513	4.840000	0.45276	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	18.577	0.91115	791	0.46100	Cadherin-like;Cadherin-like;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.000000	0.002924	0.000000	0.000000	0.006098	0.003788	0.2143	4817.79	33	chr10	71806223	.	C	T	4817.79	.	AC=3;AF=0.214;AN=14;BaseQRankSum=2.78;DP=300;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=29.02;ReadPosRankSum=1.05;SOR=0.688	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,77:77:99:1|1:71806223_C_T:3443,232,0:71806223	5	1	1	0
chr10	71810506	71810506	C	G	exonic	CDH23	.	nonsynonymous SNV	CDH23:NM_001171933:exon15:c.C2294G:p.A765G,CDH23:NM_001171934:exon15:c.C2294G:p.A765G,CDH23:NM_022124:exon60:c.C9014G:p.A3005G	Deafness, autosomal recessive 12, Autosomal recessive;Usher syndrome, type 1D, Autosomal recessive, Digenic recessive;Usher syndrome, type 1D/F digenic, Autosomal recessive, Digenic recessive	0	1502	19	0	1	20	0.00628515	.	.	.	229902	Usher_syndrome_type_1|not_provided|not_specified|Autosomal_recessive_nonsyndromic_hearing_loss_12|Usher_syndrome_type_1D	MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:231169,Orphanet:886|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0011067,MedGen:C1832394,OMIM:601386,Orphanet:90636|MONDO:MONDO:0010984,MedGen:C1832845,OMIM:601067,Orphanet:231169,Orphanet:886	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.132	.	.	0.00279553	0.0014	0	0.0005	0.0001	0	7.506e-05	0	0.0098	0.0012484	193	154602	rs188966938	0.0007	0.0007	0.0004	0.0009	0.0095	0.0006	0.0006	0.0090	0.0087	0	0.0002	0	0	0	0.0042	6.386e-05	0.0009	0.0095	0.0003	0.0003	0.0003	0.0004	0.0083	0.0003	0.0002	0.0063	0.0055	0	0	0.0003	0	0.0002	0	0.0034	5.882e-05	0.0005	0.0083	0.09	0.31987	T	0.0	0.92824	D	0.002	0.09854	B	0.002	0.06944	B	0.001150	0.40056	N	0.207044	0.999995	0.58761	D	1.61	0.41143	L	0.37	0.57729	T	-1.71	0.40660	N	0.593	0.62696	-0.9556	0.39988	T	0.158	0.49094	T	10	0.008377165	0.00190	T	.	.	.	0.132	0.35948	.	.	0.745349639804	0.74305	0.34334484325574466	0.34248	0.2100548403	0.23481	0.697732031345	0.66816	T	0.007964	0.42196	T	-0.391431	0.02633	T	-0.327648	0.41731	T	0.028044143335165	0.01694	T	0.880112	0.59716	D	0.12058347	0.28372	0.2079746	0.45079	0.13911167	0.32146	0.22425441	0.47330	-6.718	0.53092	T	.	.	0.237	0.47128	B	.;.;.;.	.;.;.;.	3.218561	0.43840	21.8	0.99538915635684622	0.70398	0.86109	0.45329	D	AEFDBCI	0.538368	0.55579	D	-0.0761480775168596	0.38442	2.251477	0.0955146348702413	0.44321	2.716241	0.999999999795303	0.74766	0.554377	0.28877	0	0.514364	0.08380	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.67	5.67	0.87673	3.284000	0.51413	7.651000	0.63703	0.599000	0.40250	0.993000	0.37899	1.000000	0.68203	0.799000	0.37691	0.0:1.0:0.0:0.0	19.761	0.96312	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	0	0	1	0	.	.	.	.	.	.	.	.	0.2143	4327.74	33	chr10	71810506	.	C	G	4327.74	.	AC=3;AF=0.214;AN=14;BaseQRankSum=0.249;DP=395;ExcessHet=0;FS=0.513;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=18.18;ReadPosRankSum=-0.327;SOR=0.768	GT:AD:DP:GQ:PL	1/1:0,112:112:99:3225,335,0	5	1	1	0
chr10	71811550	71811550	G	A	exonic	CDH23	.	nonsynonymous SNV	CDH23:NM_001171933:exon17:c.G2518A:p.A840T,CDH23:NM_001171934:exon17:c.G2518A:p.A840T,CDH23:NM_022124:exon62:c.G9238A:p.A3080T	Deafness, autosomal recessive 12, Autosomal recessive;Usher syndrome, type 1D, Autosomal recessive, Digenic recessive;Usher syndrome, type 1D/F digenic, Autosomal recessive, Digenic recessive	0	1503	19	0	0	19	0.00628099	.	.	.	229903	Usher_syndrome_type_1|not_provided|not_specified|Usher_syndrome_type_1D|Autosomal_recessive_nonsyndromic_hearing_loss_12	MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:231169,Orphanet:886|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0010984,MedGen:C1832845,OMIM:601067,Orphanet:231169,Orphanet:886|MONDO:MONDO:0011067,MedGen:C1832394,OMIM:601386,Orphanet:90636	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.133	.	7.8e-05	0.00299521	0.0015	0	0.0005	0.0007	0	7.494e-05	0	0.0099	0.0013066	202	154602	rs369395479	0.0007	0.0007	0.0005	0.0010	0.0095	0.0007	0.0007	0.0090	0.0088	5.974e-05	0.0002	0	0.0005	0	0.0042	0.0001	0.0009	0.0095	0.0004	0.0004	0.0003	0.0004	0.0085	0.0003	0.0003	0.0064	0.0057	4.817e-05	0	0.0003	0	0.0004	0	0.0034	8.824e-05	0.0009	0.0085	0.316	0.13744	T	0.108	0.38891	T	0.016	0.17332	B	0.002	0.06944	B	0.000051	0.53742	D	0.072195	0.999902	0.50806	D	1.295	0.32453	L	0.24	0.59583	T	-1.79	0.42191	N	0.45	0.48780	-0.9216	0.45334	T	0.145	0.46859	T	10	0.008137375	0.00185	T	.	.	.	0.133	0.36157	.	.	0.777339287198	0.77529	0.7024125172313511	0.70182	0.174077167911	0.19599	0.457005262375	0.32900	T	0.016806	0.59237	T	-0.387317	0.02800	T	-0.321596	0.42400	T	0.0386353492225009	0.03444	T	0.816218	0.47186	T	0.051676724	0.09526	0.13800593	0.32971	0.04183747	0.06234	0.12340108	0.29756	-6.772	0.53299	T	.	.	0.107	0.20117	B	.;.;.;.	.;.;.;.	3.374855	0.46651	22.3	0.98528525038825709	0.42558	0.84584	0.43667	D	AEFDBCI	0.610479	0.59930	D	-0.255459950207905	0.30885	1.726467	-0.103550876891836	0.35246	2.036932	0.99999752825339	0.74766	0.660377	0.49826	0	0.550933	0.16991	0	0.696353	0.63694	0	0.562822	0.20929	0	.	.	5.36	4.46	0.53567	5.805000	0.68809	8.594000	0.77699	-0.109000	0.15193	1.000000	0.71638	1.000000	0.68203	0.895000	0.43227	0.0701:0.0:0.7984:0.1315	10.628	0.44712	787	0.46738	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.003788	0.2143	5824.79	33	chr10	71811550	.	G	A	5824.79	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-0.637;DP=434;ExcessHet=0;FS=2.372;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=20.88;ReadPosRankSum=-0.878;SOR=0.719	GT:AD:DP:GQ:PL	1/1:0,126:126:99:3716,378,0	5	1	1	0
chr10	73251762	73251762	C	-	splicing	MRPS16	NM_016065:exon2:c.274+1G>-	.	.	Combined oxidative phosphorylation deficiency 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.604e-05	0	0	0	0	0	0	0.0005	5.17e-05	8	154602	rs778212156	3.283e-05	3.352e-05	1.906e-05	4.675e-05	0.0003	2.543e-05	2.249e-05	0.0002	0.0002	0	0	0	0	0	0	1.619e-05	1.656e-05	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1250.41	33	chr10	73251761	.	AC	A	1250.41	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.931;DP=297;ExcessHet=0;FS=1.615;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.14;ReadPosRankSum=-1.321;SOR=0.505	GT:AD:DP:GQ:PL	0/1:59,44:103:99:1261,0,1788	6	0	1	0
chr10	79611934	79611934	G	A	exonic	SFTPA1	.	nonsynonymous SNV	SFTPA1:NM_001164647:exon2:c.G109A:p.G37R,SFTPA1:NM_001093770:exon3:c.G154A:p.G52R,SFTPA1:NM_001164644:exon3:c.G109A:p.G37R,SFTPA1:NM_005411:exon3:c.G109A:p.G37R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.659	0.159775982579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.91255	D	0.004	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000047	0.53742	D	0.000000	0.999999	0.27979	N	4.675	0.99424	H	-5.77	0.99345	D	-4.88	0.91653	D	0.755	0.75466	0.889	0.95529	D	0.982	0.99463	D	10	0.8174249	0.80970	D	0.159776	0.83991	D	0.659	0.87234	0.594	0.72371	0.989298936457	0.98917	0.527944747745358	0.52718	0.140332092331	0.15827	0.77517747879	0.78201	T	0.676578	0.90457	D	0.321352	0.84569	D	0.223824	0.84367	D	0.985290050506592	0.76324	D	0.987701	0.95793	D	0.31930512	0.54582	0.38217813	0.63210	0.31930512	0.54582	0.38217813	0.63210	-11.129	0.80360	D	.	.	0.641	0.75714	P	.;.;.;.;.	.;.;.;.;.	4.684105	0.74992	26.3	0.99858239762802115	0.93729	0.45295	0.27507	N	AEFDGBI	0.110053	0.21838	N	0.47314780493075	0.65528	4.833803	0.224967650246506	0.51237	3.30794	8.90575072625723E-4	0.07960	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.645665	0.59343	0	.	.	2.63	2.63	0.30420	4.742000	0.61798	9.387000	0.80554	0.584000	0.30380	0.996000	0.39380	1.000000	0.68203	0.331000	0.25224	0.0:0.0:1.0:0.0	8.900	0.34649	702	0.57624	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	3248.44	79	chr10	79611934	.	G	A	3248.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.685;DP=818;ExcessHet=0;FS=7.52;MLEAC=1;MLEAF=0.071;MQ=54.06;MQRankSum=5.38;QD=16.74;ReadPosRankSum=2.09;SOR=0.367	GT:AD:DP:GQ:PL	0/1:69,125:194:99:3259,0,1523	6	0	1	0
chr10	82985465	82985465	G	A	exonic	NRG3	.	nonsynonymous SNV	NRG3:NM_001010848:exon9:c.G1951A:p.E651K,NRG3:NM_001165972:exon9:c.G1948A:p.E650K,NRG3:NM_001370081:exon9:c.G1951A:p.E651K,NRG3:NM_001370084:exon10:c.G2023A:p.E675K,NRG3:NM_001165973:exon11:c.G1360A:p.E454K,NRG3:NM_001370082:exon11:c.G1384A:p.E462K	.	0	1501	21	0	0	21	0.00694674	.	.	.	590756	Aganglionic_megacolon|not_provided	Human_Phenotype_Ontology:HP:0002029,Human_Phenotype_Ontology:HP:0002030,Human_Phenotype_Ontology:HP:0002251,Human_Phenotype_Ontology:HP:0002606,Human_Phenotype_Ontology:HP:0004391,MONDO:MONDO:0018309,MeSH:D006627,MedGen:C0019569,OMIM:PS142623,Orphanet:388|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.205	.	0.0027	0.00279553	0.0045	0.0007	0.0003	0	0.0032	0.0046	0.0033	0.0125	0.0044178	683	154602	rs138878772	0.0039	0.0039	0.0036	0.0042	0.0115	0.0038	0.0038	0.0109	0.0107	0.0005	0.0006	0	5.042e-05	0.0034	0.0064	0.0038	0.0037	0.0115	0.0029	0.0029	0.0031	0.0027	0.0110	0.0027	0.0026	0.0086	0.0078	0.0006	0.0011	0.0011	0	0	0.0034	0.0102	0.0044	0.0024	0.0110	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.992	0.80445	D	0.000004	0.62929	D	0.059384	0.999899	0.51612	D	0.805	0.20218	L	0.72	0.61677	T	-0.48	0.15578	N	0.828	0.84713	-0.4627	0.69977	T	0.266	0.63716	T	10	0.007925332	0.00180	T	.	.	.	0.205	0.49236	.	.	0.834856894076	0.83328	0.5514219515742674	0.55068	0.497513204881	0.48250	0.756136476994	0.75355	T	0.363865	0.72954	T	-0.130103	0.31479	T	0.0497351	0.73565	D	0.0311681249366389	0.02174	T	0.966353	0.87680	D	0.5113834	0.67760	0.49743262	0.70939	0.44062763	0.63444	0.5353734	0.73152	-3.308	0.15600	T	.	.	0.111	0.53355	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.200304	0.87242	29.2	0.9990169905508256	0.97350	0.91534	0.53731	D	AEFCI	0.799637	0.72584	D	0.764470071845752	0.83843	8.125034	0.7691657279599	0.87581	9.271692	0.295299896882362	0.19131	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.613276	0.41899	0	.	.	5.54	5.54	0.82907	6.776000	0.74817	11.816000	0.97088	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	16.989	0.86219	986	0.02773	.;.;.;.;.;.;.	.	.	.	.	.	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	0.004028	0.000000	0.001359	0.000000	0.000000	0.008621	0.009146	0.007576	0.07143	986.53	43	chr10	82985465	.	G	A	986.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.362;DP=286;ExcessHet=0;FS=6.638;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.61;ReadPosRankSum=2.17;SOR=0.585	GT:AD:DP:GQ:PL	0/1:52,41:93:99:997,0,1322	6	0	1	0
chr10	86687073	86687073	G	A	exonic	LDB3	.	nonsynonymous SNV	LDB3:NM_001080116:exon5:c.G349A:p.D117N,LDB3:NM_001080114:exon6:c.G349A:p.D117N,LDB3:NM_001171610:exon6:c.G694A:p.D232N,LDB3:NM_001171611:exon6:c.G694A:p.D232N,LDB3:NM_001368066:exon6:c.G349A:p.D117N,LDB3:NM_001368067:exon6:c.G349A:p.D117N,LDB3:NM_001368068:exon6:c.G349A:p.D117N	Cardiomyopathy, dilated, 1C, with or without LVNC, Autosomal dominant;Cardiomyopathy, hypertrophic, 24, Autosomal dominant;Left ventricular noncompaction 3, Autosomal dominant;Myopathy, myofibrillar, 4, Autosomal dominant	1	1477	41	3	0	47	0.0156614	.	.	.	19772	Cardiovascular_phenotype|not_specified|not_provided|Dilated_cardiomyopathy_1C|Myofibrillar_myopathy_4|Primary_dilated_cardiomyopathy	MedGen:CN230736|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011094,MedGen:C1832244,OMIM:601493,Orphanet:154,Orphanet:54260|MONDO:MONDO:0012277,MedGen:C4721886,OMIM:609452,Orphanet:98912|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.272	.	0.0068	0.00778754	0.0046	0.0154	0.0047	0	0	0.0043	0.0078	0.0031	0.0042173	652	154602	rs121908338	0.0034	0.0034	0.0033	0.0036	0.0354	0.0033	0.0033	0.0314	0.0298	0.0170	0.0061	0.0101	2.519e-05	0.0001	0.0354	0.0028	0.0061	0.0026	0.0071	0.0071	0.0072	0.0070	0.0149	0.0067	0.0066	0.0140	0.0136	0.0149	0	0.0088	0.0092	0.0002	0.0002	0.0850	0.0032	0.0137	0.0033	0.018	0.55530	D	0.412	0.16328	T	0.004	0.41722	B	0.004	0.35687	B	.	.	.	.	0.0310938	0.81001	A	.	.	.	0.89	0.88847	T	-1.19	0.34596	N	0.462	0.63883	-0.5427	0.67062	T	0.220	0.58240	T	9	0.018208385	0.00394	T	.	.	.	0.272	0.58758	.	.	0.782186682139	0.78017	0.5485576590321062	0.54781	0.255360491483	0.28129	.	.	.	.	.	.	-0.375472	0.03326	T	-0.299792	0.44746	T	0.0266292465876057	0.01493	T	0.925707	0.72678	D	.	.	.	.	.	.	.	.	-4.356	0.32744	T	.	.	0.127	0.26917	B	.;.;.;.;.	.;.;.;.;.	2.734197	0.35793	19.99	0.99768232831970494	0.85666	0.99696	0.98747	D	AEFDBIJ	0.955079	0.97266	D	-0.143363625320167	0.35517	2.041124	0.0583927742227106	0.42479	2.570059	0.999999999991715	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.0	4.07	0.46726	6.872000	0.75336	7.421000	0.58716	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.8521:0.1478	14.523	0.67449	893	0.26510	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.049849	0.116162	0.072011	0.052632	0.000000	0.008621	0.009146	0.000000	0.07143	715.44	39	chr10	86687073	.	G	A	715.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.35;DP=226;ExcessHet=0;FS=4.187;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.89;ReadPosRankSum=-1.09;SOR=0.197	GT:AD:DP:GQ:PL	0/1:15,25:40:99:726,0,342	6	0	1	0
chr10	96158121	96158121	A	C	exonic	ZNF518A	.	nonsynonymous SNV	ZNF518A:NM_001278525:exon6:c.A1799C:p.K600T,ZNF518A:NM_001330732:exon6:c.A1799C:p.K600T,ZNF518A:NM_001330735:exon6:c.A1799C:p.K600T,ZNF518A:NM_001330736:exon6:c.A1799C:p.K600T,ZNF518A:NM_014803:exon6:c.A1799C:p.K600T,ZNF518A:NM_001278524:exon7:c.A1799C:p.K600T,ZNF518A:NM_001278526:exon7:c.A209C:p.K70T,ZNF518A:NM_001330733:exon7:c.A1799C:p.K600T,ZNF518A:NM_001330734:exon7:c.A1799C:p.K600T,ZNF518A:NM_001330737:exon7:c.A1799C:p.K600T,ZNF518A:NM_001330738:exon7:c.A1799C:p.K600T	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.364e-06	0	0	0	0	1.512e-05	0	0	6.5e-06	1	154602	rs782210088	3.422e-06	3.42e-06	1.362e-06	5.503e-06	2.699e-06	1e-06	7.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	3.314e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.38016	T	0.001	0.07471	B	0.003	0.08700	B	.	.	.	.	.	.	.	2.28	0.64929	M	.	.	.	.	.	.	0.151	0.22614	.	.	.	.	.	.	.	0.11616114	0.21905	T	.	.	.	.	.	.	.	0.227934060464	0.22382	0.2963148877028601	0.29544	.	.	0.342304885387	0.16782	T	0.097759	0.40091	T	0.0481412	0.58103	T	-0.153139	0.58966	T	.	.	.	0.611339	0.23205	T	0.20407088	0.42505	0.3652987	0.61881	0.20407088	0.42505	0.3652987	0.61881	-2.987	0.10042	T	.	.	0.115	0.23183	B	.;.;.	.;.;.	3.395927	0.47037	22.4	0.83941115502014552	0.15006	0.92161	0.55080	D	AEFBI	.	.	.	.	.	.	.	.	.	0.00610082273179847	0.11127	0.295142	0.05270	0	0.30413	0.05452	0	0.343423	0.05949	0	0.221052	0.04502	0	0.223849	0.31486	5.66	4.52	0.54797	2.805000	0.47636	6.972000	0.57094	0.756000	0.94297	0.992000	0.37556	1.000000	0.68203	0.962000	0.52141	0.8424:0.1576:0.0:0.0	10.886	0.46174	514	0.74853	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1749.44	39	chr10	96158121	.	A	C	1749.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.194;DP=361;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.95;ReadPosRankSum=0.192;SOR=0.707	GT:AD:DP:GQ:PL	0/1:51,66:117:99:1760,0,1395	6	0	1	0
chr10	96223879	96223879	C	A	exonic	BLNK	.	nonsynonymous SNV	BLNK:NM_001114094:exon6:c.G472T:p.A158S,BLNK:NM_001258440:exon6:c.G472T:p.A158S,BLNK:NM_001258441:exon6:c.G472T:p.A158S,BLNK:NM_013314:exon6:c.G472T:p.A158S	Agammaglobulinemia 4, Autosomal recessive	6	1478	36	2	0	40	0.0133511	.	.	.	247049	BLNK-related_disorder|not_provided|not_specified|Agammaglobulinemia_4,_autosomal_recessive	.|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0013289,MedGen:C3150752,OMIM:613502	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.032	.	0.0055	0.00299521	0.0055	0.0009	0.0053	0	0.0088	0.0072	0.0110	0.0030	0.005388	833	154602	rs148612299	0.0052	0.0052	0.0050	0.0053	0.0167	0.0051	0.0050	0.0139	0.0129	0.0014	0.0077	0.0353	0	0.0054	0.0167	0.0047	0.0063	0.0033	0.0049	0.0049	0.0047	0.0052	0.0063	0.0046	0.0045	0.0053	0.0049	0.0010	0.0242	0.0063	0.0381	0	0.0083	0.0442	0.0049	0.0081	0.0010	0.552	0.07670	T	0.558	0.10714	T	0.0	0.07471	B	0.003	0.12992	B	0.830031	0.06936	N	1.065940	0.999994	0.08975	N	-0.595	0.02246	N	.	.	.	-0.71	0.20145	N	0.028	0.00618	-0.9360	0.43241	T	0.017	0.06998	T	9	0.002996534	0.00049	T	.	.	.	0.032	0.07718	.	.	0.209943299407	0.20609	0.1276476982693638	0.12690	0.292084130396	0.31614	0.303299188614	0.10895	T	0.296826	0.66944	T	-0.696312	0.00038	T	-0.769115	0.02797	T	0.00258914784501353	0.00027	T	0.531447	0.20104	T	0.038961124	0.05288	0.0503065	0.07868	0.0410187	0.05964	0.04487523	0.05910	-2.947	0.09999	T	.	.	0.065	0.02173	B	.;.;.	.;.;.	-0.616050	0.01528	0.098	0.4530442580867925	0.03546	0.00649	0.02827	N	AEFDBI	0.036936	0.04999	N	-1.70080143896076	0.00839	0.03628185	-1.68879537062121	0.01188	0.0534534	0.936619302429418	0.27262	0.67177	0.52595	0	0.702456	0.74545	0	0.491513	0.07944	0	0.542086	0.14980	0	.	.	5.49	-6.93	0.01480	-0.429000	0.07051	-0.222000	0.10754	-0.809000	0.03084	0.000000	0.06391	0.000000	0.08366	0.050000	0.15192	0.1491:0.6322:0.2187:0.0	11.9	0.51959	476	0.77720	.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.015121	0.015152	0.023098	0.008772	0.000000	0.017241	0.015337	0.011364	0.1429	2152.34	71	chr10	96223879	.	C	A	2152.34	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.814;DP=314;ExcessHet=0.3476;FS=4.612;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=1.81;SOR=1.034	GT:AD:DP:GQ:PL	0/1:43,48:91:99:1155,0,968	5	0	2	0
chr10	122397939	122397939	C	T	exonic	PLEKHA1	.	nonsynonymous SNV	PLEKHA1:NM_001001974:exon3:c.C163T:p.R55C,PLEKHA1:NM_001377237:exon3:c.C163T:p.R55C,PLEKHA1:NM_001377241:exon3:c.C163T:p.R55C,PLEKHA1:NM_001377245:exon3:c.C163T:p.R55C,PLEKHA1:NM_001377250:exon3:c.C163T:p.R55C,PLEKHA1:NM_001377252:exon3:c.C163T:p.R55C,PLEKHA1:NM_001377258:exon3:c.C163T:p.R55C,PLEKHA1:NM_001195608:exon4:c.C163T:p.R55C,PLEKHA1:NM_001330178:exon4:c.C163T:p.R55C,PLEKHA1:NM_001377230:exon4:c.C163T:p.R55C,PLEKHA1:NM_001377235:exon4:c.C163T:p.R55C,PLEKHA1:NM_001377238:exon4:c.C163T:p.R55C,PLEKHA1:NM_001377240:exon4:c.C163T:p.R55C,PLEKHA1:NM_001377244:exon4:c.C163T:p.R55C,PLEKHA1:NM_001377246:exon4:c.C163T:p.R55C,PLEKHA1:NM_001377247:exon4:c.C163T:p.R55C,PLEKHA1:NM_001377248:exon4:c.C163T:p.R55C,PLEKHA1:NM_001377251:exon4:c.C163T:p.R55C,PLEKHA1:NM_001377253:exon4:c.C163T:p.R55C,PLEKHA1:NM_001377255:exon4:c.C163T:p.R55C,PLEKHA1:NM_001377256:exon4:c.C37T:p.R13C,PLEKHA1:NM_001377257:exon4:c.C163T:p.R55C,PLEKHA1:NM_021622:exon4:c.C163T:p.R55C,PLEKHA1:NM_001377232:exon5:c.C163T:p.R55C,PLEKHA1:NM_001377234:exon5:c.C163T:p.R55C,PLEKHA1:NM_001377242:exon5:c.C163T:p.R55C,PLEKHA1:NM_001377243:exon5:c.C163T:p.R55C,PLEKHA1:NM_001377254:exon5:c.C163T:p.R55C,PLEKHA1:NM_001377231:exon6:c.C163T:p.R55C	.	458	1062	2	0	0	2	0.000940734	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	0.00477837999172	.	0.000399361	0.0003	9.641e-05	0.0003	0	0	0.0003	0	0.0007	0.0002717	42	154602	rs201098598	0.0003	0.0003	0.0003	0.0003	0.0047	0.0003	0.0003	0.0033	0.0029	0.0004	0.0002	0.0018	2.529e-05	0	0.0047	0.0003	0.0006	0.0004	0.0003	0.0003	0.0003	0.0003	0.0003	0.0002	0.0002	0.0002	0.0001	0.0003	0	0.0003	0.0017	0	0	0.0034	0.0002	0.0009	0.0002	0.108	0.29420	T	0.127	0.35082	T	0.001	0.07471	B	0.005	0.11217	B	0.005671	0.32605	N	0.387251	0.97433	0.39096	D	-0.205	0.04094	N	-0.95	0.75438	T	-0.31	0.12472	N	0.152	0.23253	-0.9481	0.41296	T	0.129	0.43867	T	10	0.021756291	0.00527	T	0.004778	0.11941	T	0.145	0.38592	.	.	0.736837811065	0.73448	0.7112416644961221	0.71066	0.48631410759	0.47495	0.575533866882	0.49457	T	0.279403	0.65208	T	-0.344987	0.05051	T	-0.383895	0.35267	T	0.0163844592026481	0.00406	T	0.906909	0.67118	D	0.052979715	0.09959	0.051879067	0.08436	0.052979715	0.09959	0.051879067	0.08436	-8.6	0.67077	D	.	.	0.091	0.18372	B	.;.;.;.;.;.	.;.;.;.;.;.	3.629192	0.51397	23.1	0.98324305298743953	0.40270	0.80042	0.39788	D	AEFBI	0.147330	0.27097	N	-0.414022139460929	0.24976	1.352543	-0.155575907890853	0.33195	1.896295	0.829008693813359	0.24659	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.41	4.51	0.54589	1.186000	0.31687	.	.	0.599000	0.40250	0.933000	0.32380	0.999000	0.35428	1.000000	0.97212	0.0:0.8431:0.0:0.1569	9.764	0.39719	964	0.07719	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|Pleckstrin homology domain;.;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.004076	0.002924	0.000000	0.017241	0.000000	0.000000	0.07143	194.63	24	chr10	122397939	.	C	T	194.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.927;DP=167;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.95;ReadPosRankSum=2.04;SOR=0.838	GT:AD:DP:GQ:PL	0/1:18,10:28:99:205,0,400	6	0	1	0
chr10	122631872	122631872	C	T	exonic	DMBT1	.	nonsynonymous SNV	DMBT1:NM_004406:exon34:c.C4093T:p.P1365S,DMBT1:NM_017579:exon46:c.C5947T:p.P1983S,DMBT1:NM_001320644:exon47:c.C5977T:p.P1993S,DMBT1:NM_007329:exon47:c.C5977T:p.P1993S,DMBT1:NM_001377530:exon50:c.C6364T:p.P2122S	.	411	1106	5	0	0	5	0.0022553	.	.	.	737389	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.006	0.00133183655001	0.0008	0.000998403	0.0012	0.0002	0.0007	0	0	0.0019	0.0022	0.0004	0.0011061	171	154602	rs189862352	0.0008	0.0008	0.0007	0.0008	0.0177	0.0007	0.0007	0.0149	0.0139	0.0003	0.0012	0.0083	0	9.363e-05	0.0177	0.0005	0.0016	0.0006	0.0006	0.0006	0.0006	0.0007	0.0009	0.0005	0.0005	0.0005	0.0004	0.0002	0	0.0009	0.0081	0	0	0.0068	0.0006	0.0009	0.0008	0.336	0.28520	T	0.253	0.23501	T	0.097	0.25541	B	0.099	0.30579	B	.	.	.	.	1	0.08975	N	0.72	0.18721	N	1.89	0.24656	T	-1.67	0.39887	N	0.204	0.22614	-0.9772	0.35638	T	0.032	0.13592	T	9	0.0036647618	0.00067	T	0.001332	0.01885	T	0.006	0.00375	.	.	0.143124449307	0.13826	0.3593714767669015	0.35851	0.151937623519	0.17149	0.22824755311	0.01841	T	0.029273	0.21013	T	-0.658882	0.00064	T	-0.775562	0.02590	T	0.00140085972303628	0.00014	T	0.315568	0.06252	T	0.020081563	0.00554	0.040454477	0.04376	0.020081563	0.00554	0.040454477	0.04375	-3.937	0.22858	T	.	.	0.073	0.06710	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-0.731160	0.01250	0.064	0.32069138688701071	0.01839	0.00269	0.01464	N	AEFBI	0.041563	0.06335	N	-1.72593763727459	0.00753	0.03254914	-1.83717699914581	0.00647	0.02877756	0.999717407815277	0.42101	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.07	-5.86	0.02114	-1.375000	0.02670	.	.	-1.105000	0.01501	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5678:0.1788:0.0:0.2533	4.085	0.09417	571	0.70397	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.016113	0.025253	0.009511	0.038012	0.000000	0.034483	0.006098	0.000000	0.07143	665.49	33	chr10	122631872	.	C	T	665.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.664;DP=242;ExcessHet=0;FS=4.722;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.79;ReadPosRankSum=-0.62;SOR=0.979	GT:AD:DP:GQ:PL	0/1:39,29:68:99:676,0,1002	6	0	1	0
chr10	122983003	122983003	G	C	exonic	PSTK	.	nonsynonymous SNV	PSTK:NM_001363531:exon2:c.G487C:p.V163L,PSTK:NM_153336:exon2:c.G487C:p.V163L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.217	0.00704594610802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.48642	T	0.192	0.33554	T	0.004	0.12183	B	0.022	0.19653	B	0.000010	0.62929	D	0.064498	0.958085	0.38057	D	1.76	0.45711	L	2.91	0.10008	T	-0.84	0.22944	N	0.669	0.67736	-1.0661	0.10293	T	0.029	0.12585	T	10	0.50841606	0.61954	D	0.007046	0.18676	T	0.217	0.51112	0.724	0.85850	0.349647731962	0.34572	0.6258530157450021	0.62518	0.263583704205	0.28913	0.645784556866	0.59386	T	0.019375	0.15446	T	-0.000810022	0.51544	T	-0.23894	0.50901	T	0.890971660614014	0.54186	D	0.877812	0.59215	D	0.22272539	0.44877	0.21593522	0.46201	0.22272539	0.44877	0.21593522	0.46200	-10.869	0.78934	D	.	.	0.647	0.71035	P	.;.;.	.;.;.	3.675766	0.52298	23.2	0.99376505445614849	0.61671	0.97325	0.74040	D	AEFBI	0.695338	0.65404	D	-0.0452252440071354	0.39816	2.354205	0.149695039779814	0.47125	2.947556	0.999999870920904	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.44	5.44	0.79348	6.097000	0.71099	.	.	0.650000	0.52971	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	16.179	0.81701	926	0.17793	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	180.29	52	chr10	122983003	.	G	C	180.29	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-0.551;DP=476;ExcessHet=3.1439;FS=169.002;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=0.63;ReadPosRankSum=0.185;SOR=10.163	GT:AD:DP:GQ:PL	0/1:37,18:71:99:128,0,450	2	0	4	1
chr10	124989543	124989543	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon9:c.A1517G:p.N506S,CTBP2:NM_022802:exon9:c.A2933G:p.N978S,CTBP2:NM_001321013:exon10:c.A1313G:p.N438S,CTBP2:NM_001083914:exon11:c.A1313G:p.N438S,CTBP2:NM_001290214:exon11:c.A1313G:p.N438S,CTBP2:NM_001290215:exon11:c.A1313G:p.N438S,CTBP2:NM_001321012:exon11:c.A1313G:p.N438S,CTBP2:NM_001321014:exon11:c.A1313G:p.N438S,CTBP2:NM_001329:exon11:c.A1313G:p.N438S	.	430	785	300	7	0	314	0.166667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.362	0.0412206901109	.	.	.	.	.	.	.	.	.	.	0.0011526	30	26028	rs75839774	4.107e-06	4.104e-06	5.449e-06	2.752e-06	4.497e-06	1.48e-06	9.7e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.497e-06	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.61437	D	0.553	0.32461	T	0.017	0.35330	B	0.044	0.44683	B	0.040786	0.24019	N	0.433304	0.546531	0.31369	N	1.1	0.28011	L	-1.58	0.82806	D	-0.98	0.25986	N	0.097	0.39153	-0.2662	0.75916	T	0.330	0.69766	T	10	0.12751639	0.24250	T	0.041221	0.59806	D	0.362	0.68230	0.075	0.00517	0.760080849401	0.75790	0.26369227103169535	0.26282	1.68067603589	0.89969	0.448414385319	0.31727	T	0.157679	0.50038	T	0.0363132	0.56560	T	-0.185615	0.55999	T	0.436808287713247	0.30312	T	0.90311	0.67973	D	0.08655811	0.20123	0.08484771	0.19547	0.08655811	0.20122	0.08484771	0.19547	-2.304	0.04577	T	.	.	0.070	0.03588	B	.;.;.;.;.;.	.;.;.;.;.;.	2.477890	0.31950	18.89	0.9913628706847909	0.53410	0.86806	0.46168	D	AEFDGBCI	0.540087	0.55679	D	-0.275999058280499	0.30077	1.67381	-0.0903501737703044	0.35788	2.074695	0.999999280419097	0.74766	0.722319	0.85440	0	0.00446	0.00028	3	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.12	3.98	0.45383	2.629000	0.46152	0.448000	0.18493	0.665000	0.62972	1.000000	0.71638	0.999000	0.35428	1.000000	0.97212	0.0:0.0728:0.0:0.9272	11.061	0.47165	940	0.13648	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4286	5111.58	74	chr10	124989543	.	T	C	5111.58	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-2.47;DP=632;ExcessHet=8.2628;FS=5.084;MLEAC=6;MLEAF=0.429;MQ=49.7;MQRankSum=-8.248;QD=8.28;ReadPosRankSum=0.054;SOR=0.385	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:81,32:113:99:0|1:124989533_G_A:1080,0,3261:124989533	1	0	6	0
chr10	124989565	124989565	G	-	exonic	CTBP2	.	frameshift deletion	CTBP2:NM_001363508:exon9:c.1495delC:p.Q499Sfs*36,CTBP2:NM_022802:exon9:c.2911delC:p.Q971Sfs*36,CTBP2:NM_001321013:exon10:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001083914:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001290214:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001290215:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001321012:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001321014:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001329:exon11:c.1291delC:p.Q431Sfs*36	.	440	850	230	2	0	234	0.120993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs146097043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	1928.55	63	chr10	124989564	.	TG	T	1928.55	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-3.034;DP=665;ExcessHet=8.2628;FS=4.831;MLEAC=6;MLEAF=0.429;MQ=51.84;MQRankSum=-7.441;QD=3.07;ReadPosRankSum=-2.098;SOR=0.329	GT:AD:DP:GQ:PL	0/1:88,21:109:99:495,0,2961	1	0	6	0
chr10	124989579	124989579	G	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon9:c.C1481G:p.A494G,CTBP2:NM_022802:exon9:c.C2897G:p.A966G,CTBP2:NM_001321013:exon10:c.C1277G:p.A426G,CTBP2:NM_001083914:exon11:c.C1277G:p.A426G,CTBP2:NM_001290214:exon11:c.C1277G:p.A426G,CTBP2:NM_001290215:exon11:c.C1277G:p.A426G,CTBP2:NM_001321012:exon11:c.C1277G:p.A426G,CTBP2:NM_001321014:exon11:c.C1277G:p.A426G,CTBP2:NM_001329:exon11:c.C1277G:p.A426G	.	436	984	100	2	0	104	0.0501931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.523	0.0686986444289	.	.	.	.	.	.	.	.	.	.	6.47e-05	10	154602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.68238	D	0.102	0.48594	T	0.939	0.77913	P	0.656	0.73362	P	0.001392	0.39175	N	0.252302	0.999998	0.58761	D	1.975	0.53506	M	-1.82	0.85003	D	-1.94	0.45042	N	0.486	0.62781	0.438	0.89660	D	0.671	0.88602	D	10	0.37102997	0.53476	T	0.068699	0.70524	D	0.523	0.79765	0.146	0.04941	0.760411053773	0.75822	0.4168685752787953	0.41602	1.88731367476	0.92685	0.701414048672	0.67348	T	0.299078	0.67161	T	0.208989	0.74736	D	0.0624214	0.74406	D	0.93170565366745	0.59725	D	0.741926	0.36245	T	0.23596977	0.46441	0.21558693	0.46153	0.23596977	0.46441	0.21558693	0.46152	-4.06	0.25701	T	.	.	0.324	0.54775	B	.;.;.;.;.;.	.;.;.;.;.;.	5.064118	0.84424	28.3	0.99719618450600933	0.81914	0.96716	0.70558	D	AEFDGBCI	0.937767	0.93600	D	0.680611287748224	0.78361	6.856259	0.718927581574258	0.83819	8.122182	1.0	0.98316	0.722319	0.85440	0	0.00446	0.00028	3	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.12	5.12	0.69459	9.506000	0.96988	9.922000	0.82512	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.939000	0.47918	0.0:0.0:1.0:0.0	18.759	0.91807	940	0.13648	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	97.02	60	chr10	124989579	.	G	C	97.02	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.474;DP=673;ExcessHet=0.3476;FS=4.592;MLEAC=1;MLEAF=0.083;MQ=54.3;MQRankSum=-6.369;QD=0.36;ReadPosRankSum=-2.264;SOR=0.374	GT:AD:DP:GQ:PL	0/1:105,13:118:1:1,0,2659	4	0	2	1
chr10	124994489	124994489	T	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.A964C:p.N322H,CTBP2:NM_022802:exon5:c.A2380C:p.N794H,CTBP2:NM_001321013:exon6:c.A760C:p.N254H,CTBP2:NM_001083914:exon7:c.A760C:p.N254H,CTBP2:NM_001290214:exon7:c.A760C:p.N254H,CTBP2:NM_001290215:exon7:c.A760C:p.N254H,CTBP2:NM_001321012:exon7:c.A760C:p.N254H,CTBP2:NM_001321014:exon7:c.A760C:p.N254H,CTBP2:NM_001329:exon7:c.A760C:p.N254H	.	425	876	218	3	0	224	0.11336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.855	0.287995004976	.	.	.	.	.	.	.	.	.	.	.	.	.	rs913075834	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.53900	D	0.014	0.69154	D	1.0	0.90584	D	0.995	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.03	0.86425	M	-1.64	0.82533	D	-4.7	0.80510	D	0.955	0.96416	0.598	0.91868	D	0.722	0.90485	D	10	0.93609107	0.92939	D	0.287995	0.90464	D	0.855	0.95544	0.749	0.87988	0.908261012674	0.90733	0.9221523146368497	0.92192	2.0305426451	0.94091	0.826209723949	0.85982	D	0.743281	0.92907	D	0.230793	0.76796	D	0.0937411	0.76494	D	0.996190285808554	0.88852	D	0.970303	0.89317	D	0.91641486	0.92901	0.8315015	0.90282	0.91641486	0.92902	0.8315015	0.90283	-11.706	0.83405	D	.	.	0.818	0.83534	P	.;.;.;.;.;.	.;.;.;.;.;.	4.739043	0.76411	26.5	0.99694374199735813	0.80180	0.94484	0.61314	D	AEFDGBCI	0.936668	0.93334	D	0.798915340390827	0.86037	8.759083	0.761626191030682	0.87022	9.081087	0.999999999999979	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.36	5.36	0.76624	7.674000	0.83146	7.884000	0.72673	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.357	0.74148	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	3134.26	98	chr10	124994489	.	T	G	3134.26	.	AC=6;AF=0.5;AN=12;BaseQRankSum=1.89;DP=858;ExcessHet=8.2628;FS=29.968;MLEAC=6;MLEAF=0.5;MQ=58.08;MQRankSum=-6.558;QD=3.87;ReadPosRankSum=-4.084;SOR=3.095	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:130,22:152:99:0|1:124994489_T_G:532,0,5323:124994489	0	0	6	1
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	.	.	.	.	.	.	.	.	0.5	3924.26	101	chr10	124994501	.	G	A	3924.26	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.105;DP=905;ExcessHet=8.2628;FS=37.587;MLEAC=6;MLEAF=0.5;MQ=57.54;MQRankSum=-6.141;QD=4.68;ReadPosRankSum=-2.339;SOR=3.323	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:129,24:153:99:0|1:124994489_T_G:619,0,5344:124994489	0	0	6	1
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	.	.	.	.	.	.	.	.	0.5	4089.26	106	chr10	124994505	.	A	T	4089.26	.	AC=6;AF=0.5;AN=12;BaseQRankSum=2.53;DP=948;ExcessHet=11.5949;FS=40.326;MLEAC=6;MLEAF=0.5;MQ=57.33;MQRankSum=-6.081;QD=4.77;ReadPosRankSum=-1.376;SOR=3.44	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:129,25:154:99:0|1:124994489_T_G:641,0,5301:124994489	0	0	6	1
chr10	124994530	124994530	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.C923T:p.S308F,CTBP2:NM_022802:exon5:c.C2339T:p.S780F,CTBP2:NM_001321013:exon6:c.C719T:p.S240F,CTBP2:NM_001083914:exon7:c.C719T:p.S240F,CTBP2:NM_001290214:exon7:c.C719T:p.S240F,CTBP2:NM_001290215:exon7:c.C719T:p.S240F,CTBP2:NM_001321012:exon7:c.C719T:p.S240F,CTBP2:NM_001321014:exon7:c.C719T:p.S240F,CTBP2:NM_001329:exon7:c.C719T:p.S240F	.	421	688	403	10	0	423	0.235131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.938	0.47632593724	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs374871777	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.59928	D	0.001	0.83351	D	1.0	0.90584	D	0.993	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.465	0.71551	M	-1.61	0.82254	D	-5.08	0.82896	D	0.976	0.98657	0.694	0.93099	D	0.759	0.91795	D	10	0.9291788	0.92260	D	0.476326	0.94766	D	0.938	0.98636	0.718	0.85319	0.963037453765	0.96263	0.9856555258906051	0.98558	2.08621322631	0.94675	0.860175311565	0.91136	D	0.733508	0.92560	D	0.422049	0.91127	D	0.368468	0.91016	D	0.994980752468109	0.86633	D	0.836416	0.50788	T	0.98504084	0.99469	0.92532665	0.96770	0.98504084	0.99469	0.92532665	0.96771	-14.995	0.96879	D	.	.	0.993	0.95154	P	.;.;.;.;.;.	.;.;.;.;.;.	5.187974	0.87005	29.1	0.99852028210273314	0.93102	0.95134	0.63563	D	AEFDGBCI	0.931287	0.91988	D	0.925236055449727	0.92941	11.72177	0.873600535312142	0.94317	12.66702	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	9.602000	0.97623	11.823000	0.97298	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	5877.14	117	chr10	124994530	.	G	A	5877.14	.	AC=7;AF=0.5;AN=14;BaseQRankSum=0.226;DP=1014;ExcessHet=14.2834;FS=51.694;MLEAC=7;MLEAF=0.5;MQ=56.88;MQRankSum=-5.524;QD=6.41;ReadPosRankSum=1.14;SOR=3.874	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:144,32:176:99:0|1:124994523_G_A:870,0,5760:124994523	0	0	7	0
chr10	124994542	124994542	C	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.G911A:p.S304N,CTBP2:NM_022802:exon5:c.G2327A:p.S776N,CTBP2:NM_001321013:exon6:c.G707A:p.S236N,CTBP2:NM_001083914:exon7:c.G707A:p.S236N,CTBP2:NM_001290214:exon7:c.G707A:p.S236N,CTBP2:NM_001290215:exon7:c.G707A:p.S236N,CTBP2:NM_001321012:exon7:c.G707A:p.S236N,CTBP2:NM_001321014:exon7:c.G707A:p.S236N,CTBP2:NM_001329:exon7:c.G707A:p.S236N	.	418	797	293	14	0	321	0.167624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.881	0.520636706354	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs78155918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.004	0.79402	D	0.994	0.66517	D	0.972	0.72692	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.19	0.88972	M	-1.86	0.84341	D	-2.9	0.61580	D	0.951	0.95956	0.923	0.96008	D	0.835	0.94461	D	10	0.96767014	0.96284	D	0.520637	0.95441	D	0.881	0.96502	0.859	0.95718	0.8508886717	0.84945	0.9945051231415541	0.99447	1.72531923595	0.90642	0.895219087601	0.95893	D	0.849948	0.96576	D	0.195726	0.73494	D	0.04337	0.73148	D	0.993175552752073	0.83871	D	0.98969	0.96662	D	0.9860643	0.99535	0.9414922	0.97865	0.9860643	0.99535	0.9414922	0.97866	-14.163	0.96648	D	.	.	0.990	0.93538	P	.;.;.;.;.;.	.;.;.;.;.;.	4.768549	0.77163	26.6	0.99793032458852304	0.87839	0.92617	0.56134	D	AEFDGBCI	0.921115	0.89410	D	0.951529578297244	0.94047	12.46209	0.869409228877299	0.94098	12.50256	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	7.568000	0.81546	7.667000	0.64568	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:1.0:0.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	3259.14	118	chr10	124994542	.	C	T	3259.14	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-1.257;DP=1044;ExcessHet=14.2834;FS=75.76;MLEAC=7;MLEAF=0.5;MQ=56.81;MQRankSum=-5.466;QD=3.6;ReadPosRankSum=2.25;SOR=4.636	GT:AD:DP:GQ:PL	0/1:140,33:173:99:417,0,3614	0	0	7	0
chr10	124994563	124994563	A	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.T890A:p.L297Q,CTBP2:NM_022802:exon5:c.T2306A:p.L769Q,CTBP2:NM_001321013:exon6:c.T686A:p.L229Q,CTBP2:NM_001083914:exon7:c.T686A:p.L229Q,CTBP2:NM_001290214:exon7:c.T686A:p.L229Q,CTBP2:NM_001290215:exon7:c.T686A:p.L229Q,CTBP2:NM_001321012:exon7:c.T686A:p.L229Q,CTBP2:NM_001321014:exon7:c.T686A:p.L229Q,CTBP2:NM_001329:exon7:c.T686A:p.L229Q	.	408	769	327	18	0	363	0.190952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.960	0.547155886187	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs150320719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.017	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	2.835	0.82492	M	-1.85	0.84267	D	-5.78	0.88699	D	0.932	0.93841	0.754	0.93845	D	0.782	0.92582	D	10	0.9727028	0.96922	D	0.547156	0.95809	D	0.960	0.99376	0.857	0.95604	0.951774941741	0.95126	0.9701566259621512	0.97004	2.04308220201	0.94282	0.848910570145	0.89450	D	0.853663	0.96692	D	0.45783	0.92829	D	0.419864	0.92740	D	0.999412894248962	0.97310	D	0.830117	0.49576	T	0.9576254	0.97040	0.9405844	0.97806	0.9576254	0.97041	0.9405844	0.97806	-13.719	0.92108	D	.	.	0.992	0.94272	P	.;.;.;.;.;.	.;.;.;.;.;.	5.061375	0.84364	28.3	0.99631799569558666	0.76081	0.94544	0.61510	D	AEFDGBCI	0.948042	0.95924	D	0.879361810884359	0.90712	10.53043	0.831570877214738	0.91895	11.12529	0.999999999999983	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.42	5.42	0.78666	8.947000	0.92735	11.208000	0.89295	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.466	0.75135	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	3339.14	115	chr10	124994563	.	A	T	3339.14	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-1.931;DP=1058;ExcessHet=14.2834;FS=82.34;MLEAC=7;MLEAF=0.5;MQ=56.58;MQRankSum=-5.915;QD=3.6;ReadPosRankSum=2.9;SOR=4.841	GT:AD:DP:GQ:PL	0/1:133,36:169:99:461,0,3534	0	0	7	0
chr10	124994577	124994577	C	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.G876T:p.Q292H,CTBP2:NM_022802:exon5:c.G2292T:p.Q764H,CTBP2:NM_001321013:exon6:c.G672T:p.Q224H,CTBP2:NM_001083914:exon7:c.G672T:p.Q224H,CTBP2:NM_001290214:exon7:c.G672T:p.Q224H,CTBP2:NM_001290215:exon7:c.G672T:p.Q224H,CTBP2:NM_001321012:exon7:c.G672T:p.Q224H,CTBP2:NM_001321014:exon7:c.G672T:p.Q224H,CTBP2:NM_001329:exon7:c.G672T:p.Q224H	.	408	580	516	18	0	552	0.32243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.696	0.0892909269972	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs80025996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.63226	D	0.087	0.69154	T	0.964	0.68779	D	0.898	0.69447	P	0.000000	0.84330	D	0.000000	0.999957	0.58761	D	0.49	0.13296	N	-1.71	0.83815	D	-3.39	0.66896	D	0.743	0.76111	0.130	0.84714	D	0.526	0.82375	D	10	0.69303375	0.71973	D	0.089291	0.75298	D	0.696	0.89007	0.404	0.43573	0.949204094444	0.94866	0.8408413105034186	0.84044	1.71814521226	0.90529	0.835075438023	0.87341	D	0.524087	0.83410	D	0.323687	0.84732	D	0.227177	0.84532	D	0.984627544879913	0.75871	D	0.969203	0.88895	D	0.8669297	0.88620	0.72212815	0.83591	0.8669297	0.88622	0.72212815	0.83592	-9.982	0.77738	D	.	.	0.579	0.68002	P	.;.;.;.;.;.	.;.;.;.;.;.	4.008335	0.59116	24.1	0.99735057696966967	0.83047	0.87870	0.47561	D	AEFDGBCI	0.735142	0.68105	D	0.394708730247093	0.61135	4.310599	0.421330055103997	0.62895	4.513037	0.999999999997443	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.42	4.51	0.54589	3.891000	0.55940	4.055000	0.41540	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.9224:0.0:0.0776	13.270	0.59589	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	8046.14	115	chr10	124994577	.	C	A	8046.14	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-3.628;DP=1069;ExcessHet=14.2834;FS=72.991;MLEAC=7;MLEAF=0.5;MQ=56.56;MQRankSum=-5.892;QD=8.45;ReadPosRankSum=2.39;SOR=4.387	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:136,37:173:99:0|1:124994577_C_A:1144,0,5564:124994577	0	0	7	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	.	.	.	.	.	.	.	.	0.4	1686.69	135	chr10	124998077	.	C	G	1686.69	.	AC=4;AF=0.4;AN=10;BaseQRankSum=-1.418;DP=938;ExcessHet=2.5225;FS=11.627;MLEAC=5;MLEAF=0.5;MQ=57.98;MQRankSum=-7.482;QD=3.68;ReadPosRankSum=1.65;SOR=1.614	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:148,18:166:99:0|1:124998077_C_G:310,0,6069:124998077	1	0	4	2
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	.	.	.	.	.	.	.	.	0.4	1689.69	130	chr10	124998080	.	G	C	1689.69	.	AC=4;AF=0.4;AN=10;BaseQRankSum=-0.126;DP=923;ExcessHet=2.5225;FS=10.025;MLEAC=5;MLEAF=0.5;MQ=57.97;MQRankSum=-7.482;QD=3.7;ReadPosRankSum=1.65;SOR=1.589	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:145,18:163:99:0|1:124998077_C_G:319,0,6014:124998077	1	0	4	2
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	.	.	.	.	.	.	.	.	0.4	1665.69	125	chr10	124998087	.	T	C	1665.69	.	AC=4;AF=0.4;AN=10;BaseQRankSum=-0.215;DP=923;ExcessHet=2.5225;FS=10.025;MLEAC=5;MLEAF=0.5;MQ=58;MQRankSum=-7.618;QD=3.58;ReadPosRankSum=2.67;SOR=1.609	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:150,18:168:99:0|1:124998077_C_G:304,0,6234:124998077	1	0	4	2
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	.	.	.	.	.	.	.	.	0.4	1644.69	126	chr10	124998090	.	G	A	1644.69	.	AC=4;AF=0.4;AN=10;BaseQRankSum=0;DP=931;ExcessHet=2.5225;FS=10.161;MLEAC=5;MLEAF=0.5;MQ=58.03;MQRankSum=-7.662;QD=3.48;ReadPosRankSum=3.3;SOR=1.651	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:154,18:172:99:0|1:124998077_C_G:292,0,6361:124998077	1	0	4	2
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	.	.	.	.	.	.	.	.	0.4	1597.76	128	chr10	124998111	.	A	C	1597.76	.	AC=4;AF=0.4;AN=10;BaseQRankSum=-0.605;DP=935;ExcessHet=2.5225;FS=8.287;MLEAC=5;MLEAF=0.5;MQ=58.06;MQRankSum=-7.794;QD=3.36;ReadPosRankSum=4.81;SOR=1.46	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:157,18:175:99:0|1:124998111_A_C:239,0,6538:124998111	1	0	4	2
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	.	.	.	.	.	.	.	.	0.4	1576.76	126	chr10	124998113	.	A	G	1576.76	.	AC=4;AF=0.4;AN=10;BaseQRankSum=-0.313;DP=933;ExcessHet=2.5225;FS=8.287;MLEAC=5;MLEAF=0.5;MQ=58.06;MQRankSum=-7.838;QD=3.26;ReadPosRankSum=4.74;SOR=1.458	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:159,18:177:99:0|1:124998111_A_C:233,0,6582:124998111	1	0	4	2
chr10	125003448	125003448	G	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C307G:p.L103V,CTBP2:NM_022802:exon2:c.C1723G:p.L575V,CTBP2:NM_001321013:exon3:c.C103G:p.L35V,CTBP2:NM_001083914:exon4:c.C103G:p.L35V,CTBP2:NM_001290214:exon4:c.C103G:p.L35V,CTBP2:NM_001290215:exon4:c.C103G:p.L35V,CTBP2:NM_001321012:exon4:c.C103G:p.L35V,CTBP2:NM_001321014:exon4:c.C103G:p.L35V,CTBP2:NM_001329:exon4:c.C103G:p.L35V	.	415	822	281	4	0	289	0.149509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.276	0.0482046556134	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs3198920	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.46129	T	0.06	0.70582	T	0.977	0.70673	D	0.695	0.72444	P	0.000204	0.47681	D	0.143597	0.999973	0.53665	D	1.24	0.30952	L	0.56	0.54540	T	-2.77	0.59545	D	0.749	0.74918	-0.7112	0.59893	T	0.257	0.62699	T	10	0.56829476	0.65175	D	0.048205	0.63269	D	0.276	0.59253	0.336	0.32491	0.772200913293	0.77011	0.9284518054969177	0.92823	1.54105169968	0.87712	0.653429269791	0.60473	T	0.450833	0.79179	T	0.0930372	0.63530	D	-0.104135	0.63075	T	0.921929836273193	0.58181	D	0.835916	0.50694	T	0.38344187	0.59564	0.2654763	0.52381	0.38344187	0.59565	0.2654763	0.52380	-11.24	0.86033	D	.	.	0.857	0.85926	P	.;.;.;.;.;.	.;.;.;.;.;.	4.413740	0.68303	25.2	0.95986553857963608	0.28374	0.93332	0.57934	D	AEFDBHCI	0.721280	0.67158	D	0.197166407657861	0.51063	3.290622	0.0912559216929815	0.44107	2.69894	0.999999466762818	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	1.83	0.24279	4.055000	0.57153	3.753000	0.39691	-0.154000	0.11915	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.3038:0.0:0.6962:0.0	9.074	0.35672	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4167	880.62	55	chr10	125003448	.	G	C	880.62	.	AC=5;AF=0.417;AN=12;BaseQRankSum=0.012;DP=391;ExcessHet=6.1542;FS=0.585;MLEAC=5;MLEAF=0.417;MQ=58.6;MQRankSum=-7.5;QD=2.92;ReadPosRankSum=1.08;SOR=0.773	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:59,5:64:32:0|1:125003425_G_C:32,0,2462:125003425	1	0	5	1
chr10	125003450	125003450	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C305T:p.P102L,CTBP2:NM_022802:exon2:c.C1721T:p.P574L,CTBP2:NM_001321013:exon3:c.C101T:p.P34L,CTBP2:NM_001083914:exon4:c.C101T:p.P34L,CTBP2:NM_001290214:exon4:c.C101T:p.P34L,CTBP2:NM_001290215:exon4:c.C101T:p.P34L,CTBP2:NM_001321012:exon4:c.C101T:p.P34L,CTBP2:NM_001321014:exon4:c.C101T:p.P34L,CTBP2:NM_001329:exon4:c.C101T:p.P34L	.	415	825	279	3	0	285	0.147287	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.538	0.184870613505	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796256730	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.68238	D	0.003	0.83351	D	1.0	0.90584	D	0.994	0.88582	D	0.000000	0.84330	N	0.048585	1	0.81001	D	2.215	0.62545	M	0.4	0.57261	T	-9.29	0.98415	D	0.771	0.82559	-0.3944	0.72203	T	0.310	0.68003	T	10	0.77988756	0.77765	D	0.184871	0.85777	D	0.538	0.80664	0.515	0.61459	0.793810481979	0.79189	0.9928132138473921	0.99277	2.02998117833	0.94073	0.801052808762	0.82123	T	0.591617	0.86780	D	0.254993	0.79067	D	0.128504	0.78794	D	0.999326944351196	0.96966	D	0.948805	0.80311	D	0.80739933	0.84383	0.63186806	0.78521	0.80739933	0.84384	0.63186806	0.78522	-10.77	0.87601	D	.	.	0.981	0.91262	P	.;.;.;.;.;.	.;.;.;.;.;.	5.876492	0.93912	33	0.99537415390314665	0.70274	0.97949	0.78358	D	AEFDBHCI	0.949159	0.96151	D	0.396560092074224	0.61236	4.321908	0.310569273267847	0.56158	3.779008	0.999999999991253	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	3.81	0.43020	10.003000	0.99689	11.566000	0.93257	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.1423:0.8577:0.0	15.129	0.72177	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4167	628.04	52	chr10	125003450	.	G	A	628.04	.	AC=5;AF=0.417;AN=12;BaseQRankSum=0.277;DP=381;ExcessHet=6.1542;FS=7.682;MLEAC=5;MLEAF=0.417;MQ=58.83;MQRankSum=-7.344;QD=2.12;ReadPosRankSum=0.905;SOR=1.286	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:58,5:63:35:0|1:125003425_G_C:35,0,2420:125003425	1	0	5	1
chr10	125003454	125003454	G	-	exonic	CTBP2	.	frameshift deletion	CTBP2:NM_001363508:exon2:c.301delC:p.R101Afs*19,CTBP2:NM_022802:exon2:c.1717delC:p.R573Afs*19,CTBP2:NM_001321013:exon3:c.97delC:p.R33Afs*19,CTBP2:NM_001083914:exon4:c.97delC:p.R33Afs*19,CTBP2:NM_001290214:exon4:c.97delC:p.R33Afs*19,CTBP2:NM_001290215:exon4:c.97delC:p.R33Afs*19,CTBP2:NM_001321012:exon4:c.97delC:p.R33Afs*19,CTBP2:NM_001321014:exon4:c.97delC:p.R33Afs*19,CTBP2:NM_001329:exon4:c.97delC:p.R33Afs*19	.	418	851	251	2	0	255	0.130301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.007e-07	3.42e-06	0	1.411e-06	.	0	0	.	.	0	0	0	0	1.924e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	622.15	49	chr10	125003453	.	CG	C	622.15	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-0.012;DP=382;ExcessHet=4.7409;FS=7.698;MLEAC=5;MLEAF=0.357;MQ=58.84;MQRankSum=-7.275;QD=2.09;ReadPosRankSum=0.608;SOR=1.296	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:60,5:65:29:0|1:125003425_G_C:29,0,2504:125003425	2	0	5	0
chr10	125003460	125003460	G	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C295A:p.H99N,CTBP2:NM_022802:exon2:c.C1711A:p.H571N,CTBP2:NM_001321013:exon3:c.C91A:p.H31N,CTBP2:NM_001083914:exon4:c.C91A:p.H31N,CTBP2:NM_001290214:exon4:c.C91A:p.H31N,CTBP2:NM_001290215:exon4:c.C91A:p.H31N,CTBP2:NM_001321012:exon4:c.C91A:p.H31N,CTBP2:NM_001321014:exon4:c.C91A:p.H31N,CTBP2:NM_001329:exon4:c.C91A:p.H31N	.	415	860	246	1	0	248	0.126016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.554	0.0669258259103	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs796388243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.56456	D	0.108	0.50514	T	0.168	0.51467	B	0.138	0.54536	B	0.000186	0.48115	D	0.218873	0.999987	0.54805	D	2.135	0.59519	M	-1.65	0.83737	D	-4.47	0.78388	D	0.766	0.79214	0.171	0.85422	D	0.548	0.83407	D	10	0.6328803	0.68617	D	0.066926	0.70016	D	0.554	0.81601	0.416	0.45544	0.767328355039	0.76520	0.9728822579583015	0.97277	2.0305426451	0.94091	0.756400108337	0.75394	T	0.434559	0.78160	T	0.131495	0.67506	D	-0.0488934	0.67098	D	0.986545503139496	0.77236	D	0.927207	0.73169	D	0.4496781	0.64020	0.3526759	0.60841	0.4496781	0.64021	0.3526759	0.60840	-9.806	0.74846	D	.	.	0.451	0.62246	A	.;.;.;.;.;.	.;.;.;.;.;.	5.089181	0.84970	28.5	0.977327532623396	0.35628	0.98388	0.82268	D	AEFDBHCI	0.954424	0.97151	D	0.316318154352101	0.56987	3.864403	0.376191892726831	0.60101	4.194	1.0	0.98316	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	4.72	0.59248	7.744000	0.83944	8.399000	0.77102	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.050	0.89270	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4167	649.04	50	chr10	125003460	.	G	T	649.04	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-0.579;DP=375;ExcessHet=6.1542;FS=7.7;MLEAC=5;MLEAF=0.417;MQ=58.81;MQRankSum=-7.413;QD=2.25;ReadPosRankSum=-0.178;SOR=1.291	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:59,5:64:32:0|1:125003425_G_C:32,0,2462:125003425	1	0	5	1
chr10	125003466	125003466	G	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C289A:p.P97T,CTBP2:NM_022802:exon2:c.C1705A:p.P569T,CTBP2:NM_001321013:exon3:c.C85A:p.P29T,CTBP2:NM_001083914:exon4:c.C85A:p.P29T,CTBP2:NM_001290214:exon4:c.C85A:p.P29T,CTBP2:NM_001290215:exon4:c.C85A:p.P29T,CTBP2:NM_001321012:exon4:c.C85A:p.P29T,CTBP2:NM_001321014:exon4:c.C85A:p.P29T,CTBP2:NM_001329:exon4:c.C85A:p.P29T	.	410	877	234	1	0	236	0.118593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.847	0.176108028638	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.78490	D	0.025	0.64786	D	0.948	0.61912	P	0.514	0.56676	P	0.000117	0.50451	D	0.214717	1	0.81001	D	2.215	0.62545	M	-2.13	0.86349	D	-6.05	0.89796	D	0.689	0.82559	0.518	0.90792	D	0.688	0.89243	D	10	0.8365156	0.82808	D	0.176108	0.85198	D	0.847	0.95249	0.689	0.82653	0.928801495259	0.92807	0.9831479306831125	0.98306	2.09264733632	0.94735	0.676425933838	0.63756	T	0.542494	0.84360	D	0.336779	0.85619	D	0.245983	0.85429	D	0.99172455072403	0.82061	D	0.955104	0.83186	D	0.7142099	0.78840	0.5802387	0.75671	0.7142099	0.78841	0.5802387	0.75672	-5.592	0.70616	T	.	.	0.756	0.75321	P	.;.;.;.;.;.	.;.;.;.;.;.	5.016100	0.83334	28.0	0.99771334295315606	0.85918	0.97924	0.78163	D	AEFDBHCI	0.917308	0.88472	D	0.627757786435649	0.74937	6.218313	0.643900769394684	0.78156	6.820169	0.999999999980549	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	4.72	0.59248	9.883000	0.98528	11.568000	0.93268	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.050	0.89270	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4167	572.04	49	chr10	125003466	.	G	T	572.04	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-0.115;DP=368;ExcessHet=6.1542;FS=7.971;MLEAC=5;MLEAF=0.417;MQ=58.91;MQRankSum=-7.549;QD=2.01;ReadPosRankSum=-0.536;SOR=1.323	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:60,5:65:29:0|1:125003425_G_C:29,0,2504:125003425	1	0	5	1
chr10	125003468	125003468	C	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.G287T:p.G96V,CTBP2:NM_022802:exon2:c.G1703T:p.G568V,CTBP2:NM_001321013:exon3:c.G83T:p.G28V,CTBP2:NM_001083914:exon4:c.G83T:p.G28V,CTBP2:NM_001290214:exon4:c.G83T:p.G28V,CTBP2:NM_001290215:exon4:c.G83T:p.G28V,CTBP2:NM_001321012:exon4:c.G83T:p.G28V,CTBP2:NM_001321014:exon4:c.G83T:p.G28V,CTBP2:NM_001329:exon4:c.G83T:p.G28V	.	413	879	229	1	0	231	0.116139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.808	0.205810925829	7.9e-05	.	9.126e-06	0	0	0	0	1.654e-05	0	0	6.5e-06	1	154602	rs368195398	7.039e-07	2.052e-06	0	1.418e-06	1.229e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.229e-05	1.315e-05	1.313e-05	1.285e-05	1.346e-05	4.831e-05	2.19e-06	8.2e-07	8.01e-06	3e-06	4.831e-05	0	0	0	0	0	0	0	0	0	0.002	0.91255	D	0.003	0.83351	D	0.758	0.56768	P	0.345	0.52270	B	0.000015	0.62929	D	0.153474	1	0.81001	D	2.215	0.62545	M	-2.07	0.87116	D	-6.7	0.93786	D	0.885	0.91162	0.404	0.89161	D	0.665	0.88381	D	10	0.9020648	0.89569	D	0.205811	0.87005	D	0.808	0.93777	.	.	0.940972417782	0.94036	0.9830957384624965	0.98301	0.580823813372	0.53909	0.771838724613	0.77700	T	0.670241	0.90204	D	0.414705	0.90739	D	0.357919	0.90623	D	0.97039270401001	0.68933	D	0.830817	0.50504	T	0.82183003	0.85343	0.73988026	0.84624	0.82183003	0.85344	0.73988026	0.84625	-14.257	0.93861	D	.	.	0.903	0.82932	P	.;.;.;.;.;.	.;.;.;.;.;.	5.052849	0.84171	28.2	0.99572167466560413	0.72440	0.94853	0.62557	D	AEFDBHCI	0.865967	0.78524	D	0.502445831928042	0.67234	5.054572	0.519224250986091	0.69285	5.338541	0.999999999980549	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	4.72	0.59248	4.865000	0.62695	5.821000	0.50083	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.050	0.89270	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4167	569.04	51	chr10	125003468	.	C	A	569.04	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-0.798;DP=359;ExcessHet=6.1542;FS=10.58;MLEAC=5;MLEAF=0.417;MQ=58.82;MQRankSum=-7.616;QD=1.99;ReadPosRankSum=-0.893;SOR=1.626	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:57,5:62:38:0|1:125003425_G_C:38,0,2358:125003425	1	0	5	1
chr10	125003470	125003470	G	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C285A:p.N95K,CTBP2:NM_022802:exon2:c.C1701A:p.N567K,CTBP2:NM_001321013:exon3:c.C81A:p.N27K,CTBP2:NM_001083914:exon4:c.C81A:p.N27K,CTBP2:NM_001290214:exon4:c.C81A:p.N27K,CTBP2:NM_001290215:exon4:c.C81A:p.N27K,CTBP2:NM_001321012:exon4:c.C81A:p.N27K,CTBP2:NM_001321014:exon4:c.C81A:p.N27K,CTBP2:NM_001329:exon4:c.C81A:p.N27K	.	414	877	230	1	0	232	0.116818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.443	0.196846434944	.	.	.	.	.	.	.	.	.	.	.	.	.	rs797010536	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.53172	T	0.133	0.38160	T	0.024	0.52359	B	0.023	0.49136	B	0.000107	0.50451	N	0.228572	0.999907	0.50806	D	0.84	0.21119	L	-1.74	0.85173	D	-4.45	0.77717	D	0.707	0.80572	-0.1451	0.79039	T	0.509	0.81527	D	10	0.6498769	0.69541	D	0.196846	0.86503	D	0.443	0.74588	0.388	0.40951	0.817883718107	0.81616	0.9725668737270228	0.97245	0.555298206099	0.52229	0.665825009346	0.62241	T	0.506962	0.82492	D	0.0861848	0.62758	D	-0.113978	0.62294	T	0.98187917470932	0.74162	D	0.883312	0.60567	D	0.2881824	0.51823	0.250968	0.50698	0.2881824	0.51823	0.250968	0.50697	-15.247	0.96521	D	.	.	0.973	0.89808	P	.;.;.;.;.;.	.;.;.;.;.;.	4.647796	0.74053	26.1	0.9874692024541335	0.45587	0.88075	0.47847	D	AEFDBHCI	0.574998	0.57756	D	-0.046368544377228	0.39764	2.350313	0.00799731341758868	0.40086	2.38672	0.999998763134182	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	2.83	0.32150	1.613000	0.36512	7.263000	0.57966	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1598:0.0:0.6829:0.1573	5.756	0.17440	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4167	560.04	50	chr10	125003470	.	G	T	560.04	.	AC=5;AF=0.417;AN=12;BaseQRankSum=0.632;DP=353;ExcessHet=6.1542;FS=9.008;MLEAC=5;MLEAF=0.417;MQ=58.84;MQRankSum=-7.514;QD=2.04;ReadPosRankSum=-0.874;SOR=1.456	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:53,5:58:50:0|1:125003425_G_C:50,0,2190:125003425	1	0	5	1
chr10	125039033	125039033	T	A	exonic	CTBP2	.	stopgain	CTBP2:NM_001321013:exon2:c.A22T:p.K8X,CTBP2:NM_001083914:exon3:c.A22T:p.K8X,CTBP2:NM_001290214:exon3:c.A22T:p.K8X,CTBP2:NM_001290215:exon3:c.A22T:p.K8X,CTBP2:NM_001321012:exon3:c.A22T:p.K8X,CTBP2:NM_001321014:exon3:c.A22T:p.K8X,CTBP2:NM_001329:exon3:c.A22T:p.K8X	.	432	1023	67	0	0	67	0.0317085	.	.	.	1330655	not_specified|Pulmonary_artery_atresia	MedGen:CN169374|Human_Phenotype_Ontology:HP:0004935,MedGen:C0265908	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	1.651e-05	9.626e-05	0	0	0	1.501e-05	0	0	0.0001537	4	26028	rs76555439	6.847e-07	2.257e-05	1.363e-06	0	.	0	0	.	.	0	0	0	0	1.872e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.903	0.90363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47795	0.93627	D	0.448766	0.93547	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	9.829600	0.99355	43	0.99586803091769216	0.73336	0.87743	0.47386	D	AEFGBHCI	0.077324	0.15576	N	0.854919915911592	0.89387	9.950527	0.733718632913773	0.84935	8.434	0.999999999999905	0.74766	0.645754	0.44609	0	0.627178	0.54094	0	0.696144	0.63334	0	0.711	0.71501	0	.	.	5.28	5.28	0.74118	4.878000	0.62786	7.743000	0.68032	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	13.948	0.63611	877	0.30165	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.2857	559.84	107	chr10	125039033	.	T	A	559.84	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-2.429;DP=535;ExcessHet=2.5225;FS=0;MLEAC=4;MLEAF=0.286;MQ=58.53;MQRankSum=-9.804;QD=1.29;ReadPosRankSum=-0.327;SOR=0.609	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:114,10:124:77:0|1:125039033_T_A:77,0,4707:125039033	3	0	4	0
chr10	125039035	125039035	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001321013:exon2:c.A20G:p.H7R,CTBP2:NM_001083914:exon3:c.A20G:p.H7R,CTBP2:NM_001290214:exon3:c.A20G:p.H7R,CTBP2:NM_001290215:exon3:c.A20G:p.H7R,CTBP2:NM_001321012:exon3:c.A20G:p.H7R,CTBP2:NM_001321014:exon3:c.A20G:p.H7R,CTBP2:NM_001329:exon3:c.A20G:p.H7R	.	434	1022	66	0	0	66	0.0312796	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.314	0.0169483827955	.	.	1.651e-05	9.626e-05	0	0	0	1.501e-05	0	0	0.0001921	5	26028	rs78849795	6.847e-07	2.257e-05	1.363e-06	0	.	0	0	.	.	0	0	0	0	1.872e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	0.15509	T	0.911	0.02952	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.976171	0.25390	N	1.155	0.29575	L	-1.53	0.81559	D	-0.28	0.11547	N	0.556	0.58117	-0.7162	0.59649	T	0.384	0.73988	T	9	0.2395181	0.41094	T	0.016948	0.38442	T	0.314	0.63588	0.302	0.27003	0.989459454501	0.98934	.	.	.	.	.	.	.	0.157543	0.50018	T	0.164577	0.70624	D	-0.00137324	0.70247	D	0.378074373079758	0.28108	T	0.886111	0.61235	D	0.15569115	0.35175	0.15271002	0.35916	0.15569115	0.35174	0.15271002	0.35915	-2.736	0.07610	T	.	.	0.160	0.48978	B	.;.;.;.	.;.;.;.	3.581586	0.50496	23.0	0.96844956273467708	0.31320	0.86671	0.46001	D	AEFGBHCI	0.757168	0.69621	D	-0.0152146198236119	0.41167	2.457583	0.165997750048251	0.47996	3.021633	0.999999999999905	0.74766	0.645754	0.44609	0	0.60822	0.50512	0	0.696144	0.63334	0	0.711	0.71501	0	.	.	5.28	5.28	0.74118	4.878000	0.62786	7.749000	0.68113	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	13.948	0.63611	877	0.30165	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	559.84	107	chr10	125039035	.	T	C	559.84	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-2.575;DP=527;ExcessHet=2.5225;FS=0;MLEAC=4;MLEAF=0.286;MQ=58.5;MQRankSum=-9.804;QD=1.29;ReadPosRankSum=-0.048;SOR=0.609	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:114,10:124:77:0|1:125039033_T_A:77,0,4707:125039033	3	0	4	0
chr10	131311523	131311525	GGC	-	exonic	TCERG1L	.	nonframeshift deletion	TCERG1L:NM_174937:exon1:c.111_113del:p.P38del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs1385507759	0.0003	0.0027	0.0002	0.0004	0.0020	0.0003	0.0003	0.0013	0.0012	0.0002	0.0020	0.0006	0.0006	0.0010	0	0.0002	0.0003	0.0017	0	2.638e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	50.28	12	chr10	131311522	.	GGGC	G	50.28	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.549;DP=72;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=5.03;ReadPosRankSum=-0.319;SOR=0.368	GT:AD:DP:GQ:PL	0/1:8,2:10:60:60,0,324	5	0	1	1
chr10	132366886	132366886	G	C	exonic	LRRC27	.	nonsynonymous SNV	LRRC27:NM_001309474:exon10:c.G1076C:p.G359A	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.000538411025272	.	.	0.0002	0	0	0	0	0	0	0.0003	1.29e-05	2	154602	rs753781734	8.818e-06	6.84e-06	5.193e-06	1.258e-05	0.0002	4.46e-06	3.25e-06	6.18e-05	4.636e-05	0	0	0	0	0	0.0002	0	0	0.0001	1.971e-05	1.97e-05	0	4.034e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.989e-05	0	0	0	0	0	0	0	0	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1193.45	34	chr10	132366886	.	G	C	1193.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.627;DP=326;ExcessHet=0;FS=2.398;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.66;ReadPosRankSum=0.874;SOR=0.931	GT:AD:DP:GQ:PL	0/1:58,54:112:99:1204,0,1452	6	0	1	0
chr10	132877923	132877923	-	TCCTTCTCTTTACTCCTCTCATTC	exonic	CFAP46	.	nonframeshift insertion	CFAP46:NM_001200049:exon30:c.4169_4170insGAATGAGAGGAGTAAAGAGAAGGA:p.K1389_D1390insENERSKEK	.	435	1033	46	8	0	62	0.0291353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0229	0.0011	0.0102	0.0020	0	0.0170	0.0617	0.0319	0.0008837	23	26028	rs752660068	0.0053	0.0051	0.0041	0.0065	0.0285	0.0052	0.0051	0.0265	0.0261	0.0011	0.0060	0.0189	0.0003	0.0019	0.0285	0.0035	0.0080	0.0275	0.0066	0.0068	0.0069	0.0062	0.0248	0.0062	0.0061	0.0211	0.0198	0.0014	0.0157	0.0080	0.0237	0.0004	0.0011	0.0171	0.0084	0.0086	0.0248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	971.61	22	chr10	132877923	.	G	GTCCTTCTCTTTACTCCTCTCATTC	971.61	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.824;DP=188;ExcessHet=0.3476;FS=1.117;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=19.83;ReadPosRankSum=1.14;SOR=0.606	GT:AD:DP:GQ:PL	0/1:11,16:27:99:583,0,410	5	0	2	0
chr10	132937034	132937034	C	T	exonic	CFAP46	.	nonsynonymous SNV	CFAP46:NM_001200049:exon7:c.G682A:p.E228K	.	433	1083	6	0	0	6	0.00276243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.0128340334372	0.0003	0.000199681	0.0014	0	0.0001	0.0001	0.0076	0.0015	0.0044	0.0009	0.0009832	152	154602	rs146174575	0.0007	0.0007	0.0007	0.0007	0.0005	0.0006	0.0006	0.0004	0.0004	3.096e-05	0.0002	0.0001	2.641e-05	0.0068	0.0005	0.0005	0.0006	0.0005	0.0007	0.0007	0.0006	0.0008	0.0007	0.0006	0.0006	0.0005	0.0005	0	0	0.0004	0	0	0.0051	0	0.0007	0	0.0002	0.895	0.02966	T	0.282	0.32783	T	.	.	.	.	.	.	0.057913	0.02103	N	2.829600	1	0.08975	N	.	.	.	0.58	0.54149	T	-1.23	0.33798	N	0.167	0.17691	-0.9841	0.34045	T	0.151	0.47997	T	10	0.003954619	0.00076	T	0.012834	0.31741	T	0.090	0.26093	.	.	0.0138822411134	0.00435	0.11036115281515887	0.10965	0.126400502665	0.14248	0.353846907616	0.18486	T	0.029792	0.21268	T	-0.568739	0.00225	T	-0.640172	0.09656	T	0.0134084749832872	0.00243	T	0.412159	0.10864	T	0.03520338	0.04098	0.04727474	0.06773	0.03520338	0.04098	0.04727474	0.06772	-4.037	0.24355	T	.	.	0.078	0.10256	B	.;.	.;.	0.952596	0.13286	9.789	0.81790524747129223	0.13861	0.02756	0.07444	N	AEFBI	0.066970	0.13142	N	-1.41216877284635	0.02531	0.1118885	-1.45825508064171	0.02696	0.1244903	1.23045082060441E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	3.74	0.749	0.17530	0.472000	0.21827	0.292000	0.16883	-1.143000	0.01438	0.002000	0.15269	0.000000	0.08366	0.075000	0.16954	0.0:0.8709:0.0:0.1291	11.245	0.48221	994	0.00715	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	1042.44	33	chr10	132937034	.	C	T	1042.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.15;DP=280;ExcessHet=0;FS=4.844;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.12;ReadPosRankSum=-0.423;SOR=0.377	GT:AD:DP:GQ:PL	0/1:55,48:103:99:1053,0,1201	6	0	1	0
chr11	551741	551741	C	T	exonic	LRRC56	.	nonsynonymous SNV	LRRC56:NM_198075:exon10:c.C887T:p.S296F	.	412	1059	49	2	0	53	0.0244127	.	.	.	1566203	LRRC56-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.104	.	0.0025	0.00878594	0.0071	0.0007	0.0025	0.0004	0.0005	0.0040	0.0162	0.0334	0.0065846	1018	154602	rs139348192	0.0056	0.0057	0.0049	0.0065	0.0340	0.0055	0.0055	0.0330	0.0326	0.0007	0.0020	0.0049	0.0002	0.0006	0.0142	0.0041	0.0064	0.0340	0.0039	0.0039	0.0038	0.0039	0.0342	0.0036	0.0035	0.0299	0.0283	0.0008	0	0.0022	0.0052	0	0.0002	0.0068	0.0048	0.0043	0.0342	0.004	0.65419	D	0.031	0.53788	D	0.989	0.62824	D	0.809	0.58564	P	0.020131	0.27106	N	0.349867	0.999995	0.08975	N	2.665	0.77964	M	2.62	0.12988	T	-2.4	0.52776	N	0.461	0.49783	-1.1131	0.02817	T	0.046	0.19680	T	10	0.0036670566	0.00067	T	.	.	.	0.104	0.29647	.	.	0.376921832658	0.37306	0.40103892264460156	0.40018	.	.	0.481672912836	0.36288	T	0.012776	0.11168	T	-0.475094	0.00791	T	-0.430841	0.29840	T	0.0282370238378752	0.01722	T	0.677032	0.28590	T	0.10101317	0.23857	0.13709292	0.32779	0.10101317	0.23857	0.13709292	0.32778	-5.382	0.40746	T	0.7726946834992914	0.85352	0.153	0.33913	B	.	.	3.203815	0.43583	21.8	0.99637721640869203	0.76449	0.37578	0.25793	N	AEFDGBHCI	0.138923	0.26037	N	0.110799777074831	0.46966	2.929038	0.0309368537939218	0.41158	2.468169	0.999999974760928	0.74766	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.14	4.14	0.47821	2.008000	0.40513	5.577000	0.48958	0.599000	0.40250	0.007000	0.17678	0.960000	0.29291	0.005000	0.06747	0.0:1.0:0.0:0.0	11.786	0.51314	906	0.23090	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.014099	0.000000	0.008174	0.005917	0.050000	0.000000	0.033537	0.022727	0.1429	2271.29	34	chr11	551741	.	C	T	2271.29	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-1.08;DP=346;ExcessHet=0.3476;FS=3.903;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=10.71;ReadPosRankSum=0.409;SOR=0.955	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:54,42:96:99:0|1:551741_C_T:972,0,1397:551741	5	0	2	0
chr11	640090	640090	G	0	exonic	DRD4	.	.	.	Autonomic nervous system dysfunction (3)	623	857	15	8	19	50	0.017765	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	485.63	12	chr11	640090	.	G	*	485.63	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-0.293;DP=107;ExcessHet=0.4139;FS=2.577;MLEAC=1;MLEAF=0.125;MQ=60;MQRankSum=0;QD=10.56;ReadPosRankSum=0.769;SOR=1.27	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:13,11:24:99:0|1:640056_TCCCCGGGGTCCCTGCGGCCCCGACTGTGCGCCCGCCGCGCCCAGCCTC_T:414,0,512:640056	3	0	1	3
chr11	640099	640099	A	0	exonic	DRD4	.	.	.	Autonomic nervous system dysfunction (3)	654	794	37	18	19	92	0.0439494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	522.63	15	chr11	640099	.	A	*	522.63	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-1.574;DP=116;ExcessHet=0.4139;FS=4.211;MLEAC=1;MLEAF=0.125;MQ=60;MQRankSum=0;QD=11.61;ReadPosRankSum=0.56;SOR=1.358	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:13,11:24:99:0|1:640056_TCCCCGGGGTCCCTGCGGCCCCGACTGTGCGCCCGCCGCGCCCAGCCTC_T:414,0,512:640056	3	0	1	3
chr11	688048	688048	G	C	exonic	DEAF1	.	nonsynonymous SNV	DEAF1:NM_001293634:exon4:c.C527G:p.S176C,DEAF1:NM_021008:exon4:c.C527G:p.S176C	Mental retardation, autosomal dominant 24, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.0205343924269	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.37750	T	0.036	0.52060	D	0.0	0.02946	B	0.0	0.01387	B	0.000202	0.47681	N	0.142496	0.778589	0.34238	D	1.87	0.49600	L	-0.27	0.67367	T	-1.65	0.39503	N	0.213	0.23758	-0.8118	0.54442	T	0.167	0.50518	T	10	0.17017576	0.31667	T	0.020534	0.43144	T	0.114	0.32008	0.293	0.25560	0.762667321472	0.76050	0.7263197216113774	0.72575	0.58778103844	0.54343	0.593663811684	0.52011	T	0.336139	0.70568	T	-0.0963287	0.37032	T	-0.376146	0.36172	T	0.874187886714935	0.52404	D	0.761924	0.38711	T	0.08879092	0.20723	0.091409385	0.21490	0.08879092	0.20723	0.091409385	0.21490	-6.302	0.48738	T	0.1431884826060597	0.16256	0.081	0.08176	B	.	.	3.462355	0.48268	22.6	0.94980513396789368	0.25919	0.97229	0.73454	D	AEFDBI	0.717115	0.66873	D	-0.161621045531967	0.34742	1.986743	0.0077609156840293	0.40073	2.385892	0.955011933045826	0.28164	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.63	3.71	0.41733	6.170000	0.71810	9.048000	0.78632	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.949000	0.49496	0.0:0.3403:0.6597:0.0	12.693	0.56352	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	.	.	.	.	.	.	.	.	0.1429	1396.34	33	chr11	688048	.	G	C	1396.34	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.072;DP=263;ExcessHet=0.3476;FS=5.397;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=10.34;ReadPosRankSum=0.59;SOR=0.366	GT:AD:DP:GQ:PL	0/1:34,32:66:99:659,0,823	5	0	2	0
chr11	1017980	1017980	G	C	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.C4821G:p.H1607Q	.	377	1113	31	0	1	32	0.013735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.00294131736266	.	.	.	.	.	.	.	.	.	.	.	.	.	rs77536353	0	1.71e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.071	0.35165	T	0.546	0.09555	T	0.963	0.55692	D	0.828	0.59497	P	.	.	.	.	1	0.08975	N	2.125	0.59049	M	2.29	0.17113	T	-0.52	0.16187	N	0.064	0.03613	-1.0438	0.16177	T	0.055	0.23072	T	9	0.11826384	0.22355	T	0.002941	0.06250	T	0.018	0.03083	0.176	0.08257	0.338834610459	0.33488	0.12495968873936728	0.12421	0.089077498397	0.10066	0.168520405889	0.00027	T	0.028716	0.20737	T	-0.37366	0.03413	T	-0.774513	0.02623	T	0.0780681323622793	0.09738	T	.	.	.	0.03696404	0.04647	0.047161993	0.06733	0.03696404	0.04647	0.047161993	0.06733	-7.978	0.60920	D	.	.	0.096	0.15475	B	.	.	0.227088	0.06087	2.531	0.53594529813230063	0.04970	0.02502	0.06989	N	AEFDGBCI	0.045586	0.07473	N	-0.61535458523796	0.18482	0.9599189	-0.889736591911147	0.12336	0.6339777	0.98217000833971	0.30362	0.660377	0.49826	0	0.694456	0.67091	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	2.39	-0.544	0.11254	-0.991000	0.03839	-20.000000	0.00162	-0.293000	0.06271	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.2309:0.2258:0.5434:0.0	3.857	0.08487	825	0.40060	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	215.44	311	chr11	1017980	.	G	C	215.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.41;DP=1840;ExcessHet=0;FS=10.093;MLEAC=1;MLEAF=0.071;MQ=53.89;MQRankSum=-5.092;QD=0.93;ReadPosRankSum=-1.809;SOR=1.805	GT:AD:DP:GQ:PL	0/1:211,21:232:99:226,0,8797	6	0	1	0
chr11	1018222	1018222	-	GTGGAGGG	exonic	MUC6	.	frameshift insertion	MUC6:NM_005961:exon31:c.4578_4579insCCCTCCAC:p.S1527Pfs*68	.	408	367	728	0	19	747	0.497948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	1.409e-05	0.0004	1.38e-05	1.44e-05	7.024e-05	2.34e-06	8.8e-07	.	.	0	0	7.024e-05	0	0	0	0	1.572e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	4302.92	123	chr11	1018222	.	A	AGTGGAGGG	4302.92	.	AC=1;AF=0.071;AN=14;BaseQRankSum=4.62;DP=1068;ExcessHet=8.2628;FS=9.569;MLEAC=1;MLEAF=0.071;MQ=57.21;MQRankSum=-6.354;QD=4.42;ReadPosRankSum=1.15;SOR=1.254	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:138,16:157:99:.:.:327,0,5738:.	6	0	1	0
chr11	1018227	1018227	-	GAGGTTTTG	exonic	MUC6	.	nonframeshift insertion	MUC6:NM_005961:exon31:c.4573_4574insCAAAACCTC:p.S1524_L1525insPKP	.	407	1107	6	0	2	8	0.0027027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1199616524	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	2.072e-05	0.0009	2.702e-05	1.414e-05	6.925e-05	5.51e-06	2.53e-06	5.11e-06	1.91e-06	0	0	6.925e-05	0	0	0	0	3.08e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	361.38	121	chr11	1018227	.	A	AGAGGTTTTG	361.38	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.251;DP=1034;ExcessHet=0.3476;FS=4.944;MLEAC=1;MLEAF=0.083;MQ=56.67;MQRankSum=-6.8;QD=1.02;ReadPosRankSum=-0.022;SOR=0.872	GT:AD:DP:GQ:PL	0/1:140,19:159:99:371,0,5809	5	0	1	1
chr11	1018229	1018229	-	TGTGCTGATT	exonic	MUC6	.	frameshift insertion	MUC6:NM_005961:exon31:c.4571_4572insAATCAGCACA:p.L1525Ifs*15	.	422	238	855	0	7	862	0.642374	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1298195017	7.842e-07	7.301e-05	1.577e-06	0	1.058e-06	0	0	.	.	0	0	0	0	0	0	1.058e-06	0	0	2.12e-05	0.0006	2.754e-05	1.451e-05	7.064e-05	5.64e-06	2.56e-06	5.17e-06	1.93e-06	0	0	7.064e-05	0	0	0	0	3.115e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	5406.56	124	chr11	1018229	.	C	CTGTGCTGATT	5406.56	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.4;DP=1072;ExcessHet=14.2834;FS=2.874;MLEAC=1;MLEAF=0.071;MQ=57.12;MQRankSum=-11.39;QD=5.52;ReadPosRankSum=-0.028;SOR=0.821	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:120,20:159:44:.:.:690,0,5000:.	6	0	1	0
chr11	1018232	1018232	-	CTGTGGGCTTGGCTGATCCTACTGGTGGTTGCCGTCATTAGTGGGGCTGT	exonic	MUC6	.	stopgain	MUC6:NM_005961:exon31:c.4568_4569insACAGCCCCACTAATGACGGCAACCACCAGTAGGATCAGCCAAGCCCACAG:p.S1524Qfs*4	.	417	223	876	0	6	882	0.662632	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.54e-06	0.0001	3.094e-06	0	2.07e-06	2.6e-07	1e-07	3.4e-07	1.3e-07	0	0	0	0	0	0	2.07e-06	0	0	7.609e-05	0.0006	8.099e-05	7.094e-05	0.0002	4.175e-05	3.276e-05	6.047e-05	4.387e-05	2.569e-05	0	6.903e-05	0	0.0002	0	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	9234.67	123	chr11	1018232	.	G	GCTGTGGGCTTGGCTGATCCTACTGGTGGTTGCCGTCATTAGTGGGGCTGT	9234.67	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.475;DP=1075;ExcessHet=14.2834;FS=2.842;MLEAC=1;MLEAF=0.071;MQ=57.01;MQRankSum=-11.65;QD=8.79;ReadPosRankSum=-0.12;SOR=0.805	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:124,21:165:50:.:.:642,0,5129:.	6	0	1	0
chr11	1018239	1018239	-	GACC	exonic	MUC6	.	frameshift insertion	MUC6:NM_005961:exon31:c.4561_4562insGGTC:p.T1521Rfs*17	.	404	1114	4	0	0	4	0.00179211	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1257166284	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.582e-06	0.0004	1.287e-05	0	1.474e-05	0	0	.	.	0	0	0	0	0	0	0	1.474e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	433.45	127	chr11	1018239	.	G	GGACC	433.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.22;DP=1058;ExcessHet=0;FS=17.068;MLEAC=1;MLEAF=0.071;MQ=56.55;MQRankSum=-6.736;QD=2.61;ReadPosRankSum=-0.134;SOR=1.761	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:145,21:166:99:0|1:1018239_G_GGACC:444,0,6009:1018239	6	0	1	0
chr11	1018241	1018241	-	GTGGCCTTAACTG	exonic	MUC6	.	stopgain	MUC6:NM_005961:exon31:c.4559_4560insCAGTTAAGGCCAC:p.K1520Nfs*3	.	406	1112	4	0	0	4	0.00179533	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1463976691	0	6.704e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.57e-06	0.0003	0	1.344e-05	2.407e-05	0	0	.	.	2.407e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	418.42	127	chr11	1018241	.	T	TGTGGCCTTAACTG	418.42	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.856;DP=1063;ExcessHet=0;FS=17.113;MLEAC=1;MLEAF=0.071;MQ=56.5;MQRankSum=-6.689;QD=2.45;ReadPosRankSum=-1.644;SOR=1.76	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:150,21:171:99:0|1:1018239_G_GGACC:429,0,6218:1018239	6	0	1	0
chr11	1018597	1018597	T	-	exonic	MUC6	.	frameshift deletion	MUC6:NM_005961:exon31:c.4204delA:p.T1402Pfs*54	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	1865.61	36	chr11	1018596	.	GT	G	1865.61	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.1;DP=283;ExcessHet=0.3476;FS=3.224;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=14.92;ReadPosRankSum=-0.576;SOR=0.694	GT:AD:DP:GQ:PL	0/1:32,34:66:99:1001,0,914	5	0	2	0
chr11	1096155	1096155	C	0	exonic	MUC2	.	.	.	.	456	828	3	1	234	239	0.00301023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	976.35	430	chr11	1096155	.	C	*	976.35	.	AC=4;AF=0.333;AN=12;BaseQRankSum=0.973;DP=2845;ExcessHet=4.7409;FS=0;MLEAC=4;MLEAF=0.333;MQ=55.48;MQRankSum=2.2;QD=0.6;ReadPosRankSum=-3.121;SOR=0.712	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:193,76:269:99:.:.:2620,0,7549:.	2	0	4	1
chr11	1096168	1096168	G	0	exonic	MUC2	.	.	.	.	1	110	14	0	101	115	0.0598291	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	641.04	430	chr11	1096168	.	G	*	641.04	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-1.083;DP=2487;ExcessHet=2.5225;FS=0;MLEAC=3;MLEAF=0.3;MQ=57.73;MQRankSum=-1.049;QD=0.42;ReadPosRankSum=2.41;SOR=0.654	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:193,76:269:99:.:.:2620,0,7549:.	2	0	3	2
chr11	1096170	1096212	TGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	0	exonic	MUC2	.	.	.	.	1	116	21	0	88	109	0.083004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	6240.31	418	chr11	1096170	.	TGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	*	6240.31	.	AC=2;AF=0.25;AN=8;BaseQRankSum=1.5;DP=2446;ExcessHet=1.1394;FS=1.184;MLEAC=3;MLEAF=0.375;MQ=57.8;MQRankSum=-3.755;QD=5.58;ReadPosRankSum=0.613;SOR=0.553	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:193,76:269:99:.:.:2620,0,7549:.	2	0	2	3
chr11	1096180	1096180	C	0	exonic	MUC2	.	.	.	.	532	749	62	4	175	245	0.0446429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	4099.79	418	chr11	1096180	.	C	*	4099.79	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-0.011;DP=2276;ExcessHet=0.4813;FS=1.764;MLEAC=3;MLEAF=0.3;MQ=57.14;MQRankSum=0.705;QD=3.46;ReadPosRankSum=0.82;SOR=0.569	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:193,76:269:99:.:.:2620,0,7549:.	2	0	3	2
chr11	1096181	1096181	C	0	exonic	MUC2	.	.	.	.	514	824	9	0	175	184	0.0054315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	1225.3	418	chr11	1096181	.	C	*	1225.3	.	AC=2;AF=0.25;AN=8;BaseQRankSum=-1.921;DP=2165;ExcessHet=1.1394;FS=0;MLEAC=3;MLEAF=0.375;MQ=55.47;MQRankSum=1.49;QD=1.52;ReadPosRankSum=0.406;SOR=0.643	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:193,76:269:99:.:.:2620,0,7549:.	2	0	2	3
chr11	1096211	1096211	A	0	exonic	MUC2	.	.	.	.	606	732	15	0	169	184	0.010142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375	1141.48	348	chr11	1096211	.	A	*	1141.48	.	AC=3;AF=0.375;AN=8;BaseQRankSum=2.2;DP=2162;ExcessHet=2.5225;FS=0;MLEAC=4;MLEAF=0.5;MQ=57.51;MQRankSum=-4.444;QD=0.91;ReadPosRankSum=5.08;SOR=0.707	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:193,76:269:99:.:.:2620,0,7549:.	1	0	3	3
chr11	1096212	1096212	C	0	exonic	MUC2	.	.	.	.	603	738	12	0	169	181	0.00806452	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	1143.97	347	chr11	1096212	.	C	*	1143.97	.	AC=2;AF=0.333;AN=6;BaseQRankSum=2.57;DP=2166;ExcessHet=1.383;FS=1.392;MLEAC=3;MLEAF=0.5;MQ=57.51;MQRankSum=0.19;QD=1.26;ReadPosRankSum=6.99;SOR=0.85	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:193,76:269:99:.:.:2620,0,7549:.	1	0	2	4
chr11	1096234	1096234	T	C	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1429311026	7.847e-05	0.0004	6.154e-05	9.592e-05	0.0005	6.585e-05	6.15e-05	0.0004	0.0003	6.925e-05	9.2e-05	0.0003	3.492e-05	5.51e-05	0.0002	4.366e-05	9.403e-05	0.0005	0.0035	0.0081	0.0031	0.0039	0.0083	0.0032	0.0031	0.0056	0.0047	0.0037	0.0078	0.0034	0.0021	0.0083	0.0091	0.0455	0.0021	0.0087	0.0075	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1082.24	301	chr11	1096234	.	T	C	1082.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.48;DP=1956;ExcessHet=0.3476;FS=9.548;MLEAC=2;MLEAF=0.143;MQ=57.39;MQRankSum=-5.714;QD=2.13;ReadPosRankSum=-4.78;SOR=1.513	GT:AD:DP:GQ:PL	0/1:210,45:255:99:689,0,7856	5	0	2	0
chr11	1097308	1097308	-	ACGGTGACCCCAACCCCAACACCCACTGGCACACAGACCCCAACCACAACAGCCATCACCACCACCACT	exonic	MUC2	.	unknown	UNKNOWN	.	646	865	11	0	0	11	0.00631821	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0022	0.0020	0.0020	0.0024	0.0112	0.0021	0.0021	0.0102	0.0098	0.0017	0.0027	0.0027	0.0112	0.0033	0.0023	0.0016	0.0026	0.0033	5.6e-05	8.507e-05	6.629e-05	4.543e-05	7.101e-05	2.136e-05	1.388e-05	1.883e-05	1.022e-05	4.239e-05	0	0	0	0	0.0002	0	7.101e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	941.68	196	chr11	1097308	.	C	CACGGTGACCCCAACCCCAACACCCACTGGCACACAGACCCCAACCACAACAGCCATCACCACCACCACT	941.68	.	AC=3;AF=0.214;AN=14;BaseQRankSum=0.728;DP=1177;ExcessHet=1.1394;FS=0;MLEAC=3;MLEAF=0.214;MQ=38.61;MQRankSum=1.84;QD=2;ReadPosRankSum=-3.48;SOR=0.761	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:155,15:170:31:0|1:1097308_C_CACGGTGACCCCAACCCCAACACCCACTGGCACACAGACCCCAACCACAACAGCCATCACCACCACCACT:31,0,3827:1097308	4	0	3	0
chr11	1097805	1097805	C	A	exonic	MUC2	.	unknown	UNKNOWN	.	683	827	12	0	0	12	0.00720288	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.083e-05	0.0006	4.152e-05	2.074e-05	9.699e-05	2.144e-05	1.822e-05	2.385e-05	1.288e-05	9.699e-05	9e-05	9.62e-05	6.337e-05	0	0	2.691e-05	0	1.488e-05	4.208e-05	0.0002	4.311e-05	4.11e-05	0.0002	6.98e-06	2.61e-06	3.316e-05	1.363e-05	0.0002	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	74.66	81	chr11	1097805	.	C	A	74.66	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.958;DP=499;ExcessHet=0;FS=5.138;MLEAC=1;MLEAF=0.083;MQ=35.43;MQRankSum=-0.663;QD=1.52;ReadPosRankSum=-0.104;SOR=2.066	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:44,5:49:84:0|1:1097750_G_A:84,0,1502:1097750	5	0	1	1
chr11	1621998	1621998	G	0	exonic	KRTAP5-4	.	.	.	.	590	340	341	209	42	801	0.52745	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	5724.03	47	chr11	1621998	.	G	*	5724.03	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.81;DP=462;ExcessHet=0.0509;FS=0.583;MLEAC=2;MLEAF=0.143;MQ=59.63;MQRankSum=-0.108;QD=19.08;ReadPosRankSum=-0.484;SOR=0.75	GT:AD:DP:GQ:PL	0/1:1,19:43:99:1352,690,911	5	0	2	0
chr11	1747855	1747855	G	A	exonic	IFITM10	.	nonsynonymous SNV	IFITM10:NM_001170820:exon2:c.C349T:p.R117W	.	403	1063	53	3	0	59	0.0270023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	.	0.0059	0.00479233	0.0135	0.0010	0.0091	0	0.0013	0.0118	0.0060	0.0327	0.0031759	491	154602	rs190833491	0.0086	0.0083	0.0082	0.0091	0.0270	0.0085	0.0084	0.0235	0.0222	0.0016	0.0058	0.0158	0	0.0026	0.0270	0.0085	0.0095	0.0180	0.0058	0.0058	0.0059	0.0056	0.0133	0.0055	0.0053	0.0106	0.0097	0.0015	0.0011	0.0059	0.0173	0.0002	0.0014	0.0340	0.0081	0.0119	0.0133	0.0	0.91255	D	0.001	0.83351	D	.	.	.	.	.	.	0.304973	0.14532	U	0.585427	0.949505	0.37655	D	0.895	0.22405	L	0.7	0.51474	T	-3.29	0.65742	D	0.496	0.52918	-0.8802	0.49746	T	0.099	0.37034	T	8	0.007443428	0.00169	T	.	.	.	0.113	0.31778	.	.	0.483670899158	0.47999	0.4080566555781379	0.40721	.	.	0.858771443367	0.90929	D	0.079636	0.36175	T	-0.403777	0.02186	T	-0.337838	0.40590	T	0.0390152272993604	0.03513	T	0.90231	0.65919	D	0.23435475	0.46254	0.26971132	0.52854	0.23435475	0.46254	0.26971132	0.52853	-5.023	0.37089	T	.	.	0.217	0.57230	B	.;.;.	.;.;.	3.162821	0.42862	21.6	0.99864039732502885	0.94184	0.79864	0.39661	D	AEFDBHCIJ	0.464640	0.51305	N	-0.075401472781962	0.38473	2.25391	-0.103824497521162	0.35235	2.036153	0.999999223515479	0.74766	0.582742	0.33608	0	0.588066	0.40923	0	0.61531	0.40942	0	0.620976	0.48614	0	.	.	2.6	2.6	0.30173	2.462000	0.44706	4.026000	0.41295	0.524000	0.24156	1.000000	0.71638	1.000000	0.68203	0.094000	0.17991	0.0:0.0:0.7973:0.2027	10.006	0.41129	982	0.03397	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.025194	0.005155	0.004167	0.009709	0.166667	0.068182	0.051402	0.062500	0.07143	1808.44	37	chr11	1747855	.	G	A	1808.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.907;DP=376;ExcessHet=0;FS=1.163;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.88;ReadPosRankSum=-1.922;SOR=0.794	GT:AD:DP:GQ:PL	0/1:105,78:183:99:1819,0,2504	6	0	1	0
chr11	2140200	2140200	G	A	exonic	IGF2	.	stopgain	IGF2:NM_001127598:exon2:c.C97T:p.Q33X	.	416	1102	4	0	0	4	0.00181159	.	.	.	730756	not_provided|Inborn_genetic_diseases|Wilms_tumor_1|Beckwith-Wiedemann_syndrome|Silver-Russell_syndrome_1|Silver-Russell_syndrome_3	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0008679,MedGen:CN033288,OMIM:194070,Orphanet:654|MONDO:MONDO:0007534,MedGen:C0004903,OMIM:130650,Orphanet:116|MONDO:MONDO:0020796,MedGen:C5393125,OMIM:180860,Orphanet:813|MONDO:MONDO:0014663,MedGen:C4225307,OMIM:616489	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0007	0.000798722	0.0007	0	0.0012	0	0.0003	0.0009	0	0.0009	0.0006792	105	154602	rs200441006	0.0011	0.0011	0.0011	0.0012	0.0013	0.0011	0.0011	0.0012	0.0012	8.964e-05	0.0008	0.0005	2.519e-05	7.55e-05	0.0003	0.0013	0.0010	0.0013	0.0007	0.0007	0.0007	0.0006	0.0014	0.0006	0.0005	0.0009	0.0008	0.0001	0	0.0014	0	0.0002	0.0002	0	0.0010	0.0014	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.566	0.58968	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.157435	0.69963	D	0.407817	0.92363	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	1.850866	0.23511	16.05	0.99691291202444132	0.79977	0.15169	0.18778	N	AEFDBHCI	0.119758	0.23360	N	0.409517858981619	0.61944	4.402692	0.0797033656612907	0.43530	2.652803	0.999571511099646	0.40495	0.59774	0.34471	0	0.563428	0.19063	0	0.616487	0.41570	0	0.63947	0.58350	0	.	.	1.9	0.928	0.18569	1.099000	0.30625	1.455000	0.26636	0.504000	0.22967	0.033000	0.20612	0.903000	0.28003	0.987000	0.62547	0.2462:0.0:0.7538:0.0	3.812	0.08316	988	0.01987	.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001008	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.003788	0.1429	2107.24	37	chr11	2140200	.	G	A	2107.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.28;DP=406;ExcessHet=0.3476;FS=3.565;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=8.5;ReadPosRankSum=0.744;SOR=0.505	GT:AD:DP:GQ:PL	0/1:64,44:108:99:926,0,1522	5	0	2	0
chr11	5070094	5070094	C	T	exonic	OR52E1	.	unknown	UNKNOWN	.	858	650	14	0	0	14	0.0106545	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00179712	0.0076	0	0.0142	0	0.0046	0.0084	0	0.0299	0.0012807	198	154602	rs570789731	0.0028	0.0016	0.0028	0.0029	0.0135	0.0027	0.0026	0.0087	0.0072	0.0001	0.0011	0.0261	0	0.0007	0.0135	0.0022	0.0036	0.0068	0.0020	0.0020	0.0020	0.0020	0.0083	0.0018	0.0017	0.0063	0.0056	0.0005	0	0.0009	0.0213	0	0.0006	0.0136	0.0020	0.0047	0.0083	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	2329.44	34	chr11	5070094	.	C	T	2329.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.712;DP=445;ExcessHet=0;FS=1.744;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.82;ReadPosRankSum=0.534;SOR=0.615	GT:AD:DP:GQ:PL	0/1:108,89:197:99:2340,0,2842	6	0	1	0
chr11	5352422	5352422	C	G	exonic	OR51B6	.	nonsynonymous SNV	OR51B6:NM_001004750:exon1:c.C915G:p.F305L	.	430	1088	4	0	0	4	0.00183486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.00231092397447	0.0045	0.00239617	0.0041	0.0005	0.0024	0	0.0033	0.0060	0.0034	0.0022	0.003868	598	154602	rs75370776	0.0044	0.0044	0.0045	0.0042	0.0052	0.0043	0.0042	0.0050	0.0050	0.0006	0.0016	0.0012	0	0.0035	0.0007	0.0052	0.0033	0.0015	0.0027	0.0027	0.0032	0.0023	0.0044	0.0025	0.0024	0.0040	0.0039	0.0007	0.0011	0.0023	0.0006	0	0.0027	0	0.0044	0.0028	0.0023	0.243	0.17526	T	0.253	0.23501	T	0.001	0.07471	B	0.008	0.13708	B	0.008752	0.30686	N	0.228496	0.999817	0.20249	N	0.925	0.23481	L	1.48	0.31731	T	-1.85	0.43334	N	0.201	0.22228	-1.0167	0.24787	T	0.022	0.09421	T	10	0.005732268	0.00128	T	0.002311	0.04452	T	0.035	0.08770	0.676	0.81398	0.134241683229	0.13084	0.03670884064332434	0.03617	0.00339090980937	0.00287	0.357012540102	0.18950	T	0.005463	0.04911	T	-0.628982	0.00097	T	-0.673931	0.07359	T	0.00318818336025367	0.00034	T	0.468553	0.13811	T	0.06971091	0.15296	0.07961283	0.17939	0.06971091	0.15295	0.07961283	0.17939	-4.207	0.26853	T	.	.	0.360	0.57199	A	.	.	0.029495	0.04488	1.199	0.58198520304171475	0.05939	0.07022	0.13048	N	AEFGBI	0.123258	0.23878	N	-1.34493296268098	0.03178	0.1415202	-1.36605841449837	0.03620	0.1692354	7.67081927733627E-4	0.07776	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.13	-2.3	0.06399	-0.996000	0.03819	.	.	-1.639000	0.00843	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1221:0.455:0.0:0.423	5.918	0.18306	862	0.33134	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	2586.45	34	chr11	5352422	.	C	G	2586.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.806;DP=431;ExcessHet=0;FS=1.426;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=19.59;ReadPosRankSum=1.33;SOR=0.88	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:65,67:132:99:0|1:5352416_T_C:2597,0,2490:5352416	6	0	1	0
chr11	6390705	6390711	TGCTGGC	0	exonic	SMPD1	.	.	.	Niemann-Pick disease, type A, Autosomal recessive;Niemann-Pick disease, type B, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	10434.5	35	chr11	6390705	.	TGCTGGC	*	10434.5	.	AC=3;AF=0.214;AN=14;DP=433;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=32.31;SOR=0.888	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,26:72:99:1|0:6390700_CCTGGTGCTGGCG_C:2709,1323,1893:6390700	5	1	1	0
chr11	7691973	7691973	A	G	exonic	OVCH2	.	nonsynonymous SNV	OVCH2:NM_198185:exon13:c.T1436C:p.I479T	.	.	.	.	.	.	.	.	.	.	.	3469902	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.118	0.00469459798419	0.0002	.	0.0001	0	0.0010	0	0	0.0001	0	0.0001	3.23e-05	5	154602	rs367874438	6.615e-05	6.704e-05	6.124e-05	7.116e-05	0.0001	5.515e-05	5.119e-05	6.644e-05	5.388e-05	0	0	0	0	0	0	7.158e-05	0.0001	0.0001	5.915e-05	5.911e-05	7.708e-05	4.036e-05	8.819e-05	3.078e-05	2.21e-05	3.762e-05	2.575e-05	7.238e-05	0	0	0	0	0	0	8.819e-05	0	0	.	.	.	0.001	0.83351	D	.	.	.	.	.	.	0.023021	0.26524	N	0.268702	0.999442	0.21182	N	.	.	.	.	.	.	.	.	.	0.3	0.33904	-1.0704	0.09326	T	0.039	0.16978	T	10	0.08452457	0.14175	T	0.004695	0.11660	T	.	.	.	.	0.226586394389	0.22295	0.5168185919321072	0.51604	.	.	0.471952199936	0.34948	T	0.032766	0.22630	T	-0.0636517	0.42333	T	-0.0695286	0.65659	T	0.837069034576416	0.49090	D	0.739226	0.35772	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.30765	B	.;.	.;.	3.044420	0.40826	21.2	0.99309170776257294	0.58943	0.77278	0.37978	D	AEFBHCIJ	0.124716	0.24090	N	0.0645996812780982	0.44815	2.748879	0.0991468785882716	0.44505	2.731047	0.996727954942703	0.34958	0.06567	0.01388	0	0.059962	0.00310	0	0.060301	0.00762	0	0.075334	0.01956	0	.	.	5.09	2.7	0.31007	3.172000	0.50532	3.313000	0.37480	0.665000	0.62972	1.000000	0.71638	0.985000	0.30750	0.996000	0.76049	0.8179:0.0:0.1821:0.0	7.241	0.25272	793	0.45818	CUB domain|CUB domain|CUB domain|CUB domain;CUB domain|CUB domain|CUB domain|CUB domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	1535.65	35	chr11	7691973	.	A	G	1535.65	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.76;DP=284;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=10.97;ReadPosRankSum=0.807;SOR=0.7	GT:AD:DP:GQ:PL	0/1:42,38:80:99:985,0,966	5	0	2	0
chr11	17629140	17629140	T	C	exonic	OTOG	.	nonsynonymous SNV	OTOG:NM_001277269:exon39:c.T6572C:p.V2191A,OTOG:NM_001292063:exon40:c.T6536C:p.V2179A	Deafness, autosomal recessive 18B, Autosomal recessive	9	1499	13	1	0	15	0.00497843	.	.	.	1559831	not_provided|OTOG-related_disorder	MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.451	0.0920875826919	.	.	0.0006	0	0	0	0	0.0014	0.0052	0.0001	0.0001164	18	154602	rs770039471	0.0005	0.0005	0.0005	0.0005	0.0014	0.0005	0.0004	0.0007	0.0005	3.166e-05	0.0003	0.0020	0	0	0.0014	0.0005	0.0008	0.0001	0.0003	0.0003	0.0003	0.0002	0.0004	0.0002	0.0002	0.0003	0.0002	7.241e-05	0	0.0002	0.0020	0	0	0	0.0004	0	0	0.038	0.42783	D	0.003	0.76473	D	.	.	.	.	.	.	0.008882	0.30616	N	0.256385	0.999826	0.49512	D	2.785	0.81254	M	-0.11	0.64445	T	-3.6	0.69357	D	0.632	0.74280	-0.3787	0.72692	T	0.378	0.73557	T	10	0.16611701	0.31030	T	0.092088	0.75827	D	0.451	0.75143	.	.	0.406668915854	0.40277	0.7002975342164074	0.69970	.	.	0.477145075798	0.35664	T	0.383224	0.74513	T	-0.046668	0.44952	T	0.0191315	0.71574	D	0.158410605399073	0.17753	T	0.712229	0.32360	T	0.3060879	0.53445	0.34957027	0.60580	0.3060879	0.53445	0.34957027	0.60580	-6.967	0.53792	T	.	.	0.210	0.46745	B	.;.	.;.	4.742533	0.76494	26.5	0.99840561408345907	0.92143	0.99128	0.91637	D	AEFBI	0.679314	0.64338	D	0.583002394821454	0.72115	5.755049	0.539530761147526	0.70672	5.539787	0.975825943528441	0.29668	0.594549	0.33734	0	0.59043	0.45803	0	0.597571	0.31856	0	0.530356	0.10902	0	.	.	5.28	5.28	0.74118	7.088000	0.76565	7.840000	0.70487	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.693000	0.33928	0.0:0.0:0.0:1.0	14.491	0.67235	677	0.60274	von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain;von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1360.49	35	chr11	17629140	.	T	C	1360.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.811;DP=297;ExcessHet=0;FS=2.508;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.04;ReadPosRankSum=-0.345;SOR=0.453	GT:AD:DP:GQ:PL	0/1:55,58:113:99:1371,0,1386	6	0	1	0
chr11	40116285	40116285	T	G	exonic	LRRC4C	.	nonsynonymous SNV	LRRC4C:NM_020929:exon5:c.A8C:p.N3T,LRRC4C:NM_001258419:exon7:c.A8C:p.N3T	.	428	1078	16	0	0	16	0.00736648	.	.	.	3212752	LRRC4C-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.195	0.0235054350127	0.0024	0.00199681	0.0026	0	0.0014	0	0.0003	0.0038	0.0035	0.0023	0.002652	410	154602	rs144974170	0.0034	0.0034	0.0034	0.0035	0.0071	0.0033	0.0033	0.0053	0.0047	0.0006	0.0018	0.0036	0	0.0004	0.0071	0.0038	0.0041	0.0025	0.0025	0.0025	0.0025	0.0025	0.0037	0.0023	0.0022	0.0033	0.0032	0.0007	0.0230	0.0026	0.0040	0	0.0002	0.0102	0.0037	0.0043	0.0025	0.0	0.91255	D	0.0	0.92824	D	0.947	0.53479	P	0.727	0.55167	P	0.000001	0.84330	D	0.053882	0.999953	0.52396	D	1.39	0.34934	L	0.42	0.56937	T	-0.09	0.89534	N	0.714	0.73015	-0.8007	0.55103	T	0.137	0.45394	T	10	0.008387715	0.00190	T	0.023505	0.46474	T	0.195	0.47612	.	.	0.293707238958	0.28979	0.581826371327186	0.58111	1.70255623673	0.90341	0.789652109146	0.80390	T	0.047222	0.27658	T	-0.319918	0.06905	T	-0.231913	0.51587	T	0.0550466619877694	0.06364	T	0.791221	0.43226	T	0.39905316	0.60666	0.41884845	0.65896	0.39905316	0.60667	0.41884845	0.65896	-2.874	0.08886	T	.	.	0.111	0.48715	B	.;.;.;.;.;.	.;.;.;.;.;.	4.519201	0.70844	25.6	0.99595501067307068	0.73866	0.98159	0.80110	D	AEFBI	0.935509	0.93047	D	0.571494797106875	0.71401	5.645158	0.639552788728443	0.77837	6.756512	0.991222192547175	0.32415	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.76	5.76	0.90726	7.674000	0.83146	7.936000	0.75280	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	15.243	0.73179	942	0.12992	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004541	0.000000	0.001359	0.000000	0.000000	0.008621	0.012195	0.007576	0.07143	1258.48	40	chr11	40116285	.	T	G	1258.48	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.79;DP=270;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.16;ReadPosRankSum=-0.098;SOR=0.767	GT:AD:DP:GQ:PL	0/1:32,51:83:99:1269,0,751	6	0	1	0
chr11	44938231	44938231	G	A	exonic	TP53I11	.	nonsynonymous SNV	TP53I11:NM_001318388:exon2:c.C5T:p.T2M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	.	0.000199681	0.0005	0	0	0.0039	0	9.912e-05	0	0.0012	0.0003816	59	154602	rs564424905	0.0002	0.0002	0.0002	0.0002	0.0030	0.0002	0.0002	0.0025	0.0024	5.979e-05	2.241e-05	0	0.0030	0	0.0005	5.397e-05	0.0002	0.0011	0.0002	0.0002	8.998e-05	0.0002	0.0029	0.0001	9.239e-05	0.0018	0.0015	0	0	0	0	0.0029	0	0	1.471e-05	0	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	2723.65	33	chr11	44938231	.	G	A	2723.65	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.51;DP=397;ExcessHet=0.3476;FS=0.978;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=11.07;ReadPosRankSum=-0.299;SOR=0.61	GT:AD:DP:GQ:PL	0/1:56,54:110:99:1273,0,1259	5	0	2	0
chr11	47375701	47375701	G	A	exonic	SPI1	.	nonsynonymous SNV	SPI1:NM_001080547:exon2:c.C77T:p.T26M,SPI1:NM_003120:exon2:c.C74T:p.T25M	.	.	.	.	.	.	.	.	.	.	.	3500454	Agammaglobulinemia	Human_Phenotype_Ontology:HP:0004432,Human_Phenotype_Ontology:HP:0008328,MONDO:MONDO:0015977,MeSH:D000361,MedGen:C0001768,OMIM:PS601495,Orphanet:183669	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.153	0.0221202516655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.105e-06	4.104e-06	4.084e-06	4.126e-06	2.698e-06	1.48e-06	9.7e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	4.968e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.47320	D	0.134	0.60972	T	0.861	0.70673	P	0.346	0.58928	B	0.187873	0.16927	N	0.621565	1	0.81001	D	1.445	0.36358	L	1.46	0.32238	T	-0.42	0.46146	N	0.184	0.31253	-1.0339	0.19205	T	0.106	0.38685	T	10	0.20471036	0.36672	T	0.02212	0.44975	T	0.153	0.40148	0.303	0.27164	0.688485270606	0.68581	0.4352338884887179	0.43440	1.24931227173	0.81763	0.400207817554	0.25098	T	0.385923	0.74720	T	-0.0735883	0.40751	T	-0.343481	0.39951	T	0.89361709356308	0.54487	D	0.924008	0.72946	D	0.049952313	0.08948	0.07656815	0.16970	0.049952313	0.08948	0.07656815	0.16970	-3.895	0.22227	T	.	.	0.101	0.36732	B	.;.;.	.;.;.	4.221136	0.63852	24.6	0.9977648352164048	0.86346	0.63649	0.32155	D	AEFGBHCI	0.728195	0.67629	D	0.122288264709249	0.47505	2.975211	0.0556396835140103	0.42346	2.559634	0.999999976293716	0.74766	0.660085	0.49399	0	0.662677	0.63036	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.49	4.49	0.54177	6.007000	0.70391	11.632000	0.93711	0.676000	0.76740	0.743000	0.29058	1.000000	0.68203	0.730000	0.35099	0.0:0.0:1.0:0.0	13.904	0.63325	31	0.98186	.;.;.	.	.	.	.	.	Likely benign	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	.	.	.	.	.	.	.	.	0.1429	3305.25	34	chr11	47375701	.	G	A	3305.25	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.878;DP=400;ExcessHet=0.3476;FS=0.464;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=13.22;ReadPosRankSum=0.018;SOR=0.634	GT:AD:DP:GQ:PL	0/1:57,79:136:99:1913,0,1169	5	0	2	0
chr11	55265133	55265133	C	T	exonic	TRIM48	.	nonsynonymous SNV	TRIM48:NM_024114:exon2:c.C278T:p.A93V	.	476	1044	2	0	0	2	0.000956938	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.0110350247424	0.0020	0.000399361	0.0016	0.0003	0.0007	0	0	0.0026	0.0011	0.0001	0.0015653	242	154602	rs146290222	0.0020	0.0020	0.0020	0.0020	0.0032	0.0020	0.0019	0.0024	0.0023	0.0006	0.0009	7.758e-05	0	0.0005	0.0032	0.0024	0.0018	0.0002	0.0013	0.0013	0.0013	0.0012	0.0021	0.0011	0.0011	0.0018	0.0017	0.0004	0.0011	0.0011	0	0	0.0004	0.0070	0.0021	0.0034	0	0.054	0.38633	T	0.201	0.27503	T	.	.	.	.	.	.	.	.	.	.	0.999961	0.18878	N	.	.	.	-1.71	0.83157	D	-2.98	0.62008	D	0.147	0.14905	-0.7359	0.58663	T	0.338	0.70429	T	9	0.011858702	0.00257	T	0.011035	0.28229	T	0.109	0.30843	.	.	0.223847106136	0.22009	0.022215529193450066	0.02173	0.00402470828284	0.00354	0.539164841175	0.44327	T	.	.	.	-0.40695	0.02083	T	-0.361323	0.37900	T	0.0196124837338412	0.00664	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.177	0.38729	B	.	.	0.362239	0.07350	3.966	0.99372826759919752	0.61541	0.00689	0.02944	N	AEFI	0.030809	0.03172	N	-0.934574356160581	0.10042	0.4779848	-1.0482242409642	0.08744	0.4314143	1.3845465438341E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.596	0.596	0.16678	-0.748000	0.04924	-4.955000	0.01911	0.142000	0.17677	0.000000	0.06391	0.000000	0.08366	0.020000	0.11549	0.0:0.9999:0.0:1.0E-4	7.138	0.24714	160	0.93798	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004908	0.008333	0.009669	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	2863.27	33	chr11	55265133	.	C	T	2863.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.36;DP=415;ExcessHet=0;FS=0.497;MLEAC=1;MLEAF=0.083;MQ=59.82;MQRankSum=-0.964;QD=13.13;ReadPosRankSum=1.07;SOR=0.758	GT:AD:DP:GQ:PL	0/1:106,112:218:99:2873,0,2773	5	0	1	1
chr11	55820039	55820039	T	C	exonic	OR5D18	.	nonsynonymous SNV	OR5D18:NM_001001952:exon1:c.T410C:p.M137T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.00325436415592	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.004	0.74150	D	0.865	0.47557	P	0.585	0.50320	P	0.033762	0.24856	N	0.291554	0.969603	0.25745	N	3.565	0.93411	H	6.44	0.00536	T	-5.82	0.88289	D	0.518	0.54845	-1.0569	0.12543	T	0.007	0.02399	T	10	0.5042897	0.61727	D	0.003254	0.07177	T	0.122	0.33800	0.45	0.51121	0.482500522706	0.47881	0.32260391643262565	0.32173	0.193186186948	0.21654	0.348354607821	0.17679	T	0.02027	0.15991	T	-0.103464	0.35850	T	-0.386396	0.34974	T	0.860342264175415	0.51082	D	0.757524	0.38090	T	0.7273459	0.79574	0.7458338	0.84977	0.7273459	0.79575	0.7458338	0.84978	-7.712	0.59091	D	.	.	0.317	0.54302	B	.	.	3.230149	0.44050	21.9	0.98382313271362754	0.40863	0.89435	0.49898	D	AEFI	0.119734	0.23355	N	0.268335768420489	0.54550	3.62041	0.112200542033537	0.45171	2.785108	2.3903927741622E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.84	3.7	0.41607	3.238000	0.51051	1.535000	0.27187	0.571000	0.28931	1.000000	0.71638	0.988000	0.31051	0.020000	0.11549	0.0:0.1707:0.0:0.8293	8.107	0.30053	156	0.93906	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	.	.	.	.	.	.	.	.	0.1429	4885.24	39	chr11	55820039	.	T	C	4885.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.744;DP=723;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=0.517;SOR=0.694	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:85,96:181:99:0|1:55820035_A_G:2402,0,2355:55820035	5	0	2	0
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	.	.	.	.	.	.	.	.	0.25	249.94	64	chr11	56412815	.	A	G	249.94	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-3.554;DP=685;ExcessHet=1.1394;FS=104.012;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=0.68;ReadPosRankSum=1.43;SOR=9.641	GT:AD:DP:GQ:PL	0/1:90,24:114:27:27,0,2022	3	0	3	1
chr11	57796896	57796896	G	A	exonic	CTNND1	.	nonsynonymous SNV	CTNND1:NM_001085469:exon3:c.G557A:p.R186H,CTNND1:NM_001085463:exon4:c.G557A:p.R186H,CTNND1:NM_001085464:exon4:c.G557A:p.R186H,CTNND1:NM_001085465:exon4:c.G557A:p.R186H,CTNND1:NM_001085466:exon4:c.G557A:p.R186H,CTNND1:NM_001085467:exon4:c.G557A:p.R186H,CTNND1:NM_001085468:exon4:c.G557A:p.R186H,CTNND1:NM_001206890:exon4:c.G557A:p.R186H,CTNND1:NM_001085462:exon5:c.G860A:p.R287H,CTNND1:NM_001206883:exon5:c.G698A:p.R233H,CTNND1:NM_001206884:exon5:c.G698A:p.R233H,CTNND1:NM_001206886:exon5:c.G698A:p.R233H,CTNND1:NM_001206887:exon5:c.G698A:p.R233H,CTNND1:NM_001206888:exon5:c.G698A:p.R233H,CTNND1:NM_001085458:exon6:c.G860A:p.R287H,CTNND1:NM_001085459:exon6:c.G860A:p.R287H,CTNND1:NM_001085460:exon6:c.G860A:p.R287H,CTNND1:NM_001085461:exon6:c.G860A:p.R287H,CTNND1:NM_001206885:exon6:c.G860A:p.R287H,CTNND1:NM_001206889:exon6:c.G698A:p.R233H,CTNND1:NM_001206891:exon6:c.G698A:p.R233H,CTNND1:NM_001331:exon6:c.G860A:p.R287H	.	421	1072	28	1	0	30	0.0137994	.	.	.	3207144	CTNND1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.526	.	0.0002	0.00239617	0.0016	0.0001	0.0007	0.0001	0	0.0005	0.0024	0.0109	0.0013583	210	154602	rs200914456	0.0009	0.0010	0.0006	0.0013	0.0105	0.0009	0.0009	0.0099	0.0097	6.005e-05	0.0005	0.0042	0	0	0.0056	0.0002	0.0014	0.0105	0.0006	0.0006	0.0004	0.0007	0.0120	0.0005	0.0004	0.0095	0.0086	9.621e-05	0	6.537e-05	0.0023	0.0002	0	0	0.0002	0.0005	0.0120	0.001	0.91255	D	0.127	0.92824	T	0.997	0.90584	D	0.884	0.88582	P	0.000000	0.84330	D	0.049271	0.999999	0.81001	D	2.305	0.65957	M	-1.36	0.83327	T	-2.12	0.71882	N	0.652	0.77601	0.450	0.89840	D	0.705	0.89849	D	10	0.008713067	0.00197	T	.	.	.	0.526	0.79947	.	.	0.893469137683	0.89241	0.7538686209710876	0.75333	1.21594706112	0.80967	0.727611362934	0.71158	T	0.036562	0.73026	T	0.0189001	0.54234	T	0.262334	0.86201	D	0.0432667433749685	0.04286	T	0.963804	0.88413	D	0.3429911	0.56517	0.32258293	0.58197	0.3187861	0.54537	0.37006184	0.62263	-3.71	0.26795	T	.	.	0.500	0.64763	A	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	5.411063	0.90574	31	0.99957276297572628	0.99981	0.99859	0.99866	D	AEFDBI	0.953844	0.97048	D	0.895609814481584	0.91543	10.93695	0.903831306916432	0.95736	13.91645	0.999999999999999	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.92	5.92	0.95557	9.099000	0.93565	8.635000	0.77869	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.928	0.97108	378	0.83833	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	0.005035	0.000000	0.002717	0.005848	0.000000	0.000000	0.009146	0.007576	0.07143	1037.53	35	chr11	57796896	.	G	A	1037.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.5;DP=282;ExcessHet=0;FS=1.744;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.04;ReadPosRankSum=2.18;SOR=0.922	GT:AD:DP:GQ:PL	0/1:52,42:94:99:1048,0,1308	6	0	1	0
chr11	60798451	60798451	T	C	exonic	MS4A10	.	nonsynonymous SNV	MS4A10:NM_206893:exon7:c.T659C:p.V220A	.	433	1076	12	1	0	14	0.00646353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.00115533226062	0.0052	0.00259585	0.0047	0.0009	0.0031	0.0023	0.0098	0.0063	0.0077	0.0006	0.0044889	694	154602	rs139578350	0.0061	0.0061	0.0064	0.0058	0.0141	0.0060	0.0059	0.0116	0.0107	0.0011	0.0032	0.0217	0.0012	0.0077	0.0141	0.0064	0.0076	0.0007	0.0044	0.0044	0.0044	0.0043	0.0056	0.0041	0.0040	0.0052	0.0050	0.0015	0	0.0021	0.0239	0.0013	0.0067	0.0171	0.0056	0.0062	0.0017	0.14	0.25664	T	0.046	0.49120	D	0.043	0.21573	B	0.011	0.15521	B	.	.	.	.	1	0.08975	N	1.355	0.33814	L	1.92	0.23082	T	0.68	0.02228	N	0.063	0.03502	-0.9833	0.34234	T	0.019	0.08173	T	9	0.00635761	0.00144	T	0.001155	0.01434	T	0.001	0.00016	.	.	0.104622674875	0.10061	0.09669567333101191	0.09601	0.0373546032595	0.03961	0.22637398541	0.01710	T	6.38E-4	0.00271	T	-0.702927	0.00035	T	-0.77987	0.02457	T	2.63986948993988e-05	0.00000	T	0.233577	0.03193	T	0.025533883	0.01501	0.033226434	0.02182	0.025533883	0.01501	0.033226434	0.02182	-3.56	0.17281	T	.	.	0.092	0.13783	B	.	.	-0.345588	0.02423	0.274	0.6246904516175138	0.06971	0.00860	0.03421	N	AEFDBI	0.026849	0.02088	N	-1.27413465636325	0.03990	0.1792595	-1.35226064130874	0.03779	0.1769936	0.00272546126844268	0.09662	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	2.59	-1.36	0.08610	-0.932000	0.04072	-0.151000	0.11419	-0.263000	0.06870	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2351:0.2953:0.0:0.4695	2.163	0.03595	758	0.50837	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.011078	0.005051	0.012228	0.038012	0.000000	0.008621	0.006098	0.000000	0.1429	3074.24	33	chr11	60798451	.	T	C	3074.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.298;DP=460;ExcessHet=0.3476;FS=6.014;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=10.21;ReadPosRankSum=0.378;SOR=0.49	GT:AD:DP:GQ:PL	0/1:76,75:151:99:1694,0,1761	5	0	2	0
chr11	60869537	60869537	G	A	exonic	ZP1	.	nonsynonymous SNV	ZP1:NM_207341:exon3:c.G319A:p.D107N	Oocyte maturation defect 1, Autosomal recessive	420	1083	18	1	0	20	0.00914913	0.9251	0.684	.	2816659	not_provided|ZP1-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.083	0.0084374323153	0.0020	0.00139776	0.0023	0.0002	0.0027	0.0006	0	0.0031	0.0097	0.0007	0.0021345	330	154602	rs145707301	0.0020	0.0020	0.0020	0.0020	0.0163	0.0020	0.0019	0.0136	0.0126	0.0003	0.0031	0.0205	0.0006	5.675e-05	0.0163	0.0017	0.0035	0.0008	0.0020	0.0020	0.0019	0.0020	0.0034	0.0018	0.0017	0.0027	0.0024	0.0003	0	0.0034	0.0202	0.0006	0	0.0136	0.0021	0.0052	0.0008	0.019	0.50132	D	0.126	0.35205	T	0.845	0.46707	P	0.326	0.41929	B	0.527017	0.05235	N	1.262390	0.76458	0.34078	D	0.805	0.20218	L	1.65	0.27650	T	-1.73	0.41046	N	0.078	0.05287	-1.0268	0.21494	T	0.057	0.23904	T	9	0.0063221753	0.00143	T	0.008437	0.22332	T	0.083	0.24192	.	.	0.462461958149	0.45873	0.5216341298894437	0.52086	0.201467826254	0.22544	0.362747877836	0.19786	T	0.06113	0.31572	T	-0.643027	0.00080	T	-0.701055	0.05768	T	0.0258744014069865	0.01388	T	0.59614	0.22137	T	0.07250748	0.16136	0.07542073	0.16601	0.06388268	0.13497	0.06292846	0.12389	-6.651	0.51440	T	0.2812643485133788	0.37661	0.102	0.17953	B	.	.	2.910020	0.38601	20.8	0.99649124727281668	0.77192	0.59398	0.30904	D	AEFBI	0.140577	0.26251	N	-0.0297272071245893	0.40512	2.407167	-0.0626323343636556	0.36950	2.156914	0.999630396214113	0.41205	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.28	4.28	0.50183	1.754000	0.37998	4.702000	0.44414	-0.289000	0.06313	0.938000	0.32564	1.000000	0.68203	0.313000	0.24807	0.0:0.0:1.0:0.0	12.575	0.55709	658	0.62094	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.010574	0.005051	0.008152	0.023392	0.000000	0.008621	0.021341	0.003788	0.2143	4134.76	34	chr11	60869537	.	G	A	4134.76	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-1.168;DP=437;ExcessHet=1.1394;FS=4.141;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=13.38;ReadPosRankSum=0.64;SOR=0.495	GT:AD:DP:GQ:PL	0/1:38,58:96:99:1613,0,952	4	0	3	0
chr11	61231484	61231484	G	A	exonic	PGA4	.	nonsynonymous SNV	PGA4:NM_001079808:exon9:c.G1120A:p.V374I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.0174278136817	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1455360406	3.08e-05	2.654e-05	3.244e-05	2.932e-05	6.013e-05	1.656e-05	1.234e-05	9.96e-06	4.32e-06	0	0	0	3.636e-05	0	0	2.107e-05	0.0002	6.013e-05	0	7.278e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.168	0.41364	T	0.226	0.27767	T	.	.	.	.	.	.	0.005810	0.32491	U	0.191765	0.839831	0.81001	D	0.555	0.15161	N	-0.02	0.62918	T	-0.4	0.18459	N	0.192	0.24010	-0.8434	0.52419	T	0.155	0.48602	T	10	0.25621343	0.43023	T	0.017428	0.39125	T	0.098	0.28162	0.672	0.81002	0.0551355673512	0.04727	0.09864043258895476	0.09795	.	.	0.686693370342	0.65230	T	0.110388	0.42503	T	-0.0910914	0.37894	T	-0.368623	0.37051	T	0.2106981096736	0.20990	T	0.907909	0.67446	D	0.10550344	0.24945	0.11408311	0.27537	0.10550344	0.24944	0.11408311	0.27536	-5.373	0.40659	T	.	.	0.116	0.32969	B	.;.;.	.;.;.	1.924595	0.24443	16.40	0.9754236108398241	0.34517	0.65123	0.32632	D	AEFI	0.194407	0.32149	N	-0.434241475764929	0.24277	1.309734	-0.398564437725557	0.25040	1.374698	0.474357586720229	0.20733	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.85	2.85	0.32333	0.676000	0.24927	3.187000	0.36685	0.502000	0.22824	0.516000	0.27080	0.999000	0.35428	0.709000	0.34421	0.0:0.0:1.0:0.0	13.379	0.60198	314	0.87270	Peptidase family A1 domain|Peptidase family A1 domain|Pepsin catalytic domain;.;Peptidase family A1 domain|Peptidase family A1 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	183.72	1	chr11	61231484	.	G	A	183.72	.	AC=2;AF=0.2;AN=10;BaseQRankSum=1.28;DP=16;ExcessHet=0.5115;FS=0;MLEAC=3;MLEAF=0.3;MQ=26.79;MQRankSum=0;QD=20.41;ReadPosRankSum=1.28;SOR=2.093	GT:AD:DP:GQ:PL	0/1:1,3:4:13:83,0,13	3	0	2	2
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	.	.	.	.	.	.	.	.	0.5	1144.51	50	chr11	61740527	.	G	C	1144.51	.	AC=3;AF=0.5;AN=6;BaseQRankSum=-1.723;DP=358;ExcessHet=1.383;FS=340.269;MLEAC=4;MLEAF=0.667;MQ=60;MQRankSum=0;QD=5.5;ReadPosRankSum=0.587;SOR=8.525	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:43,21:64:99:0|1:61740527_G_C:262,0,1143:61740527	0	0	3	4
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	.	.	.	.	.	.	.	.	0.4	1249.3	50	chr11	61740531	.	T	C	1249.3	.	AC=4;AF=0.4;AN=10;BaseQRankSum=0.107;DP=429;ExcessHet=3.1439;FS=414.536;MLEAC=5;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.77;ReadPosRankSum=0.989;SOR=9.19	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:43,21:64:99:0|1:61740527_G_C:262,0,1143:61740527	1	0	4	2
chr11	64652064	64652064	T	C	exonic	NRXN2	.	nonsynonymous SNV	NRXN2:NM_138732:exon11:c.A2387G:p.Q796R,NRXN2:NM_001376265:exon12:c.A2462G:p.Q821R,NRXN2:NM_001376262:exon13:c.A2507G:p.Q836R,NRXN2:NM_001376263:exon13:c.A2486G:p.Q829R,NRXN2:NM_001376266:exon13:c.A2483G:p.Q828R,NRXN2:NM_001376267:exon13:c.A2486G:p.Q829R,NRXN2:NM_015080:exon13:c.A2507G:p.Q836R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.404	0.0200233744411	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.249	0.17183	T	0.014	0.62352	D	0.025	0.43152	B	0.05	0.49582	B	0.000702	0.42254	U	0.000000	0.99993	0.51612	D	0.405	0.12330	N	-1.04	0.76561	T	-1.05	0.27463	N	0.438	0.54845	-0.4524	0.70321	T	0.369	0.72910	T	10	0.43879384	0.57967	T	0.020023	0.42524	T	0.404	0.71714	0.613	0.74652	0.551875144547	0.54844	0.6330535729320733	0.63239	0.674568766465	0.59651	0.664756059647	0.62089	T	0.148065	0.48644	T	0.0610377	0.59742	T	-0.1501	0.59234	T	0.92041951417923	0.57958	D	0.858914	0.56300	D	0.177133	0.38663	0.1375287	0.32870	0.177133	0.38662	0.1375287	0.32869	-10.067	0.74312	D	.	.	0.222	0.45990	B	.;.;.;.	.;.;.;.	4.258395	0.64698	24.7	0.99811431021998509	0.89531	0.99676	0.98575	D	AEFGBI	0.936941	0.93399	D	0.239561787308596	0.53125	3.482832	0.344518351277919	0.58177	3.98686	0.999999577464029	0.74766	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.8	4.8	0.61157	7.972000	0.87634	7.791000	0.68894	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	12.316	0.54282	428	0.80967	Laminin G domain|Laminin G domain|Laminin G domain;.;Laminin G domain|Laminin G domain|Laminin G domain;Laminin G domain|Laminin G domain|Laminin G domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	3541.24	36	chr11	64652064	.	T	C	3541.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-1.751;DP=579;ExcessHet=0.3476;FS=2.492;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=8.47;ReadPosRankSum=1.04;SOR=0.889	GT:AD:DP:GQ:PL	0/1:107,80:187:99:1650,0,2828	5	0	2	0
chr11	66367798	66367798	C	G	exonic	SLC29A2	.	nonsynonymous SNV	SLC29A2:NM_001532:exon6:c.G622C:p.V208L,SLC29A2:NM_001300868:exon8:c.G622C:p.V208L,SLC29A2:NM_001300869:exon8:c.G622C:p.V208L	.	418	1096	8	0	0	8	0.00363636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.0316042497561	7.7e-05	.	0.0002	0.0002	0.0003	0	0	0.0002	0.0011	0.0004	0.0002717	42	154602	rs150459418	0.0002	0.0002	0.0001	0.0002	0.0028	0.0001	0.0001	0.0017	0.0014	0.0004	4.472e-05	0	0	0	0.0028	0.0001	0.0002	0.0006	0.0001	0.0001	0.0001	8.056e-05	0.0004	6.506e-05	5.318e-05	9.05e-05	7.014e-05	0	0	0.0001	0	0	0	0.0034	0.0002	0	0.0004	0.431	0.09514	T	0.633	0.07127	T	0.07	0.23866	B	0.026	0.20792	B	0.628126	0.10713	N	0.831132	0.996028	0.23136	N	0.755	0.19153	N	-0.26	0.67187	T	0.05	0.06369	N	0.35	0.39153	-1.0139	0.25688	T	0.121	0.42165	T	10	0.04368475	0.03244	T	0.031604	0.53648	D	0.036	0.09122	0.385	0.40460	0.136095386433	0.13204	0.14309667819788827	0.14232	0.120596554572	0.13580	0.272003829479	0.06404	T	0.012461	0.41198	T	-0.433622	0.01410	T	-0.496481	0.22713	T	0.0102681643343851	0.00140	T	0.50265	0.15781	T	0.03720598	0.04726	0.039624136	0.04098	0.03720598	0.04726	0.039624136	0.04098	-3.464	0.15931	T	.	.	0.097	0.15832	B	.;.;.;.;.	.;.;.;.;.	-1.243283	0.00489	0.011	0.80550828878662495	0.13256	0.18398	0.20244	N	AEFDGBCI	0.196588	0.32356	N	-1.46746009226412	0.02083	0.09161928	-1.40381359912203	0.03213	0.149446	0.999995358236298	0.74766	0.67177	0.52595	0	0.694456	0.67091	0	0.702456	0.68683	0	0.655142	0.61905	0	.	.	4.26	-2.05	0.06916	-3.782000	0.00413	-6.493000	0.01383	-1.696000	0.00764	0.000000	0.06391	0.000000	0.08366	0.411000	0.27028	0.1368:0.4617:0.0:0.4014	5.066	0.13923	61	0.97388	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002520	0.000000	0.004076	0.005848	0.000000	0.000000	0.000000	0.000000	0.1429	1833.44	35	chr11	66367798	.	C	G	1833.44	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.668;DP=341;ExcessHet=0.3476;FS=1.149;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=10.02;ReadPosRankSum=1.36;SOR=0.643	GT:AD:DP:GQ:PL	0/1:59,45:104:99:992,0,1366	5	0	2	0
chr11	66485258	66485258	C	G	exonic	DPP3	.	nonsynonymous SNV	DPP3:NM_005700:exon3:c.C356G:p.P119R,DPP3:NM_130443:exon3:c.C356G:p.P119R	.	415	1106	1	0	0	1	0.000451875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.449	0.0362001542279	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.78490	D	0.024	0.74150	D	0.465	0.36447	P	0.12	0.32230	B	0.000000	0.84330	D	0.054591	0.999973	0.81001	D	3.16	0.88528	M	0.92	0.44461	T	-5.25	0.89684	D	0.83	0.83576	-0.7875	0.55875	T	0.142	0.46312	T	10	0.81421965	0.80676	D	0.036	0.56837	D	0.449	0.75004	0.676	0.81398	0.611689863146	0.60856	0.3433909211370589	0.34253	.	.	0.682778120041	0.64667	T	0.226647	0.78598	T	0.272497	0.80664	D	0.153647	0.80414	D	0.989387989044189	0.79623	D	0.971803	0.89778	D	0.723377	0.79350	0.520659	0.72306	0.723377	0.79351	0.520659	0.72306	-10.051	0.74216	D	.	.	0.261	0.55299	B	.;.;.;.;.;.	.;.;.;.;.;.	3.884481	0.56480	23.7	0.99668310232686319	0.78394	0.97537	0.75396	D	AEFBI	0.791492	0.72007	D	0.303871375545492	0.56347	3.799286	0.356859373380704	0.58921	4.065944	0.999999999918301	0.74766	0.744818	0.98587	0	0.732433	0.95613	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.0	5.0	0.66209	6.814000	0.75026	7.567000	0.60617	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.939000	0.47918	0.0:1.0:0.0:0.0	15.821	0.78414	57	0.97492	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	2424.65	31	chr11	66485258	.	C	G	2424.65	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.35;DP=267;ExcessHet=0.3476;FS=0.652;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=18.23;ReadPosRankSum=-0.625;SOR=0.812	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:34,27:61:99:0|1:66485258_C_G:1032,0,1269:66485258	5	0	2	0
chr11	66863811	66863811	C	T	exonic	PC	.	nonsynonymous SNV	PC:NM_022172:exon10:c.G1331A:p.S444N,PC:NM_000920:exon11:c.G1331A:p.S444N,PC:NM_001040716:exon12:c.G1331A:p.S444N	Pyruvate carboxylase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.340	0.0403761480499	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.526	0.07746	T	0.513	0.10821	T	0.001	0.07471	B	0.006	0.12133	B	0.000002	0.62929	D	0.096468	0.999867	0.50061	D	0.27	0.09956	N	-1.49	0.81235	T	0.25	0.04456	N	0.597	0.61596	-0.7183	0.59546	T	0.281	0.65280	T	10	0.371042	0.53477	T	0.040376	0.59342	D	0.340	0.66202	0.353	0.35246	0.417919123248	0.41407	.	.	0.828852337507	0.67540	0.812464594841	0.83870	D	0.306455	0.67866	T	-0.0390994	0.46083	T	-0.29394	0.45361	T	0.607176721096039	0.36687	D	0.939506	0.77539	D	0.16597606	0.36904	0.18945736	0.42293	0.16597606	0.36904	0.18945736	0.42293	-5.616	0.42938	T	0.0686599878140657	0.02511	0.139	0.30370	B	.;.;.;.;.	.;.;.;.;.	2.999539	0.40076	21.1	0.94205998637530508	0.24445	0.96446	0.69180	D	AEFDGBI	0.747219	0.68934	D	-0.12521594567028	0.36297	2.09615	0.0861861627878325	0.43852	2.678501	0.999999992442072	0.74766	0.718356	0.82227	0	0.588066	0.40923	0	0.570548	0.19454	0	0.655142	0.61905	0	.	.	5.54	5.54	0.82907	5.305000	0.65541	7.502000	0.59501	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.8337:0.1663:0.0	12.661	0.56177	297	0.88113	Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3571	563.75	59	chr11	66863811	.	C	T	563.75	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-2.271;DP=485;ExcessHet=4.7409;FS=172.665;MLEAC=5;MLEAF=0.357;MQ=60;MQRankSum=0;QD=1.36;ReadPosRankSum=1.02;SOR=9.94	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:54,22:76:4:.:.:4,0,921:.	2	0	5	0
chr11	67308216	67308216	C	T	exonic	SSH3	.	stopgain	SSH3:NM_017857:exon9:c.C928T:p.Q310X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.7e-05	.	0.0001	0	0.0006	0	0	0.0001	0	0	9.7e-05	15	154602	rs201982384	0.0002	0.0002	0.0002	0.0002	0.0010	0.0001	0.0001	0.0008	0.0007	5.974e-05	0.0010	0	0	0	0	0.0001	0.0003	0	8.539e-05	8.536e-05	0.0001	6.723e-05	0.0003	4.955e-05	3.961e-05	8.874e-05	5.384e-05	2.412e-05	0	0.0003	0	0	0	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.012910	0.29014	N	0.232099	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.073	0.04668	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.333543	0.85402	D	0.634849	0.97827	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	8.746382	0.97967	38	0.99735649913588553	0.83119	0.93123	0.57387	D	AEFDGBI	0.152264	0.27691	N	0.956971697056864	0.94258	12.62005	0.783403902063007	0.88617	9.649635	0.999999985353673	0.74766	0.732398	0.92422	0	0.547309	0.14657	0	0.723109	0.80598	0	0.727631	0.95156	0	.	.	5.51	3.45	0.38602	2.902000	0.48401	4.751000	0.44659	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.816000	0.38450	0.0:0.6648:0.3352:0.0	13.893	0.63255	397	0.82902	DEK, 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	.	.	.	.	.	.	.	.	0.07143	887.46	33	chr11	67308216	.	C	T	887.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.334;DP=236;ExcessHet=0;FS=4.931;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.65;ReadPosRankSum=-0.819;SOR=0.717	GT:AD:DP:GQ:PL	0/1:29,36:65:99:898,0,687	6	0	1	0
chr11	67409501	67409501	G	A	exonic	TBC1D10C	.	nonsynonymous SNV	TBC1D10C:NM_001369495:exon9:c.G785A:p.R262Q,TBC1D10C:NM_001369496:exon9:c.G1088A:p.R363Q,TBC1D10C:NM_001369498:exon9:c.G1112A:p.R371Q,TBC1D10C:NM_001369494:exon10:c.G785A:p.R262Q,TBC1D10C:NM_001369497:exon10:c.G1088A:p.R363Q,TBC1D10C:NM_198517:exon10:c.G1088A:p.R363Q	.	424	1030	61	7	0	75	0.0351288	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	.	0.0013	0.00519169	0.0103	0.0020	0	0	0	0.0107	0.0076	0.0112	0.002044	316	154602	rs149140675	0.0037	0.0036	0.0034	0.0040	0.0475	0.0036	0.0036	0.0427	0.0409	0.0019	0.0048	0.0117	0.0004	0.0040	0.0475	0.0027	0.0075	0.0104	0.0038	0.0038	0.0037	0.0040	0.0110	0.0036	0.0035	0.0086	0.0078	0.0006	0	0.0065	0.0141	0.0006	0.0030	0.0272	0.0042	0.0147	0.0110	0.168	0.23007	T	0.265	0.22694	T	0.002	0.09854	B	0.002	0.06944	B	0.474252	0.12241	N	0.688838	1	0.28947	N	.	.	.	3.27	0.06602	T	-0.5	0.15782	N	0.114	0.10198	-0.9866	0.33445	T	0.008	0.02720	T	10	0.0037960112	0.00071	T	.	.	.	0.016	0.02506	.	.	0.12205267543	0.11705	0.2705067848096566	0.26963	.	.	0.376769483089	0.21798	T	0.024103	0.18278	T	-0.691135	0.00041	T	-0.756149	0.03253	T	0.000306898303968616	0.00002	T	0.721228	0.33447	T	0.039088134	0.05330	0.053378228	0.08979	0.039088134	0.05330	0.053378228	0.08978	-4.807	0.34673	T	.	.	0.067	0.02458	B	.	.	0.956254	0.13325	9.829	0.95951858910698251	0.28275	0.01645	0.05289	N	ALL	0.026810	0.02078	N	-1.26242745027156	0.04137	0.1861875	-1.32657734763861	0.04090	0.1921831	0.999999999997694	0.74766	0.580535	0.33130	0	0.52208	0.09955	0	0.603688	0.36954	0	0.604944	0.38103	0	.	.	4.92	-2.56	0.05903	-0.133000	0.10430	0.285000	0.16810	-0.135000	0.12811	0.002000	0.15269	0.136000	0.23046	0.070000	0.16646	0.5777:0.0:0.2774:0.1449	6.093	0.19226	580	0.69689	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.050184	0.024096	0.080935	0.060510	0.062500	0.052083	0.031008	0.031250	0.1429	729.05	26	chr11	67409501	.	G	A	729.05	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.782;DP=149;ExcessHet=0.3476;FS=2.449;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=14.58;ReadPosRankSum=1.42;SOR=0.385	GT:AD:DP:GQ:PL	0/1:8,9:17:99:241,0,186	5	0	2	0
chr11	67452457	67452457	C	T	exonic	GPR152	.	nonsynonymous SNV	GPR152:NM_206997:exon1:c.G268A:p.E90K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.434	0.0379063823426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.849e-07	6.84e-07	0	1.377e-06	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.735	0.03753	T	0.0	0.92824	D	0.997	0.70673	D	0.953	0.69275	D	0.001152	0.40056	N	0.000000	1	0.81001	D	1.895	0.50365	L	-0.59	0.71543	T	-0.98	0.25986	N	0.652	0.66272	-0.4801	0.69362	T	0.402	0.75324	T	10	0.80385715	0.79750	D	0.037906	0.57903	D	0.434	0.73951	0.752	0.88237	0.81997632753	0.81828	0.7508817662222028	0.75035	1.02109504773	0.75126	0.714601635933	0.69260	T	0.007559	0.06959	T	0.19476	0.73403	D	0.0419827	0.73057	D	0.808392703533173	0.46934	D	0.751525	0.37371	T	0.3831153	0.59541	0.28390306	0.54386	0.3831153	0.59541	0.28390306	0.54385	-5.909	0.45512	T	.	.	0.910	0.83461	P	.	.	4.690783	0.75159	26.3	0.99884356588752732	0.95970	0.40551	0.26462	N	AEFDGBCI	0.325208	0.42686	N	0.18852037197757	0.50648	3.252819	0.145050927161184	0.46881	2.926902	0.999999845459414	0.74766	0.421363	0.06395	0	0.550933	0.16991	0	0.578056	0.29568	0	0.618803	0.45993	0	.	.	4.91	4.91	0.63897	-0.185000	0.09679	7.686000	0.65553	0.599000	0.40250	0.000000	0.06391	1.000000	0.68203	0.990000	0.65344	0.0:1.0:0.0:0.0	15.621	0.76557	693	0.58582	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	567.49	30	chr11	67452457	.	C	T	567.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.768;DP=232;ExcessHet=0;FS=1.024;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.32;ReadPosRankSum=0.507;SOR=0.532	GT:AD:DP:GQ:PL	0/1:30,25:55:99:578,0,774	6	0	1	0
chr11	71485638	71485638	G	A	exonic	NADSYN1	.	nonsynonymous SNV	NADSYN1:NM_018161:exon16:c.G1552A:p.V518M	.	.	.	.	.	.	.	.	.	.	.	4034111	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.216	0.030736740883	.	.	4.722e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs770094071	5.851e-05	6.156e-05	6.056e-05	5.64e-05	0.0001	4.808e-05	4.418e-05	6.75e-05	5.124e-05	0	0.0001	0	0	0	0	6.205e-05	1.721e-05	0.0001	1.972e-05	1.97e-05	2.57e-05	1.345e-05	4.409e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.409e-05	0	0	0.001	0.78490	D	0.002	0.83351	D	0.914	0.50529	P	0.737	0.55577	P	0.000256	0.46924	D	0.084489	0.999999	0.58761	D	3.17	0.88688	M	0.97	0.46777	T	-2.99	0.62343	D	0.812	0.81758	-0.2665	0.75908	T	0.306	0.67649	T	10	0.6039945	0.67071	D	0.030737	0.52983	D	0.216	0.50959	0.472	0.54699	0.679952891098	0.67723	0.8844807822872989	0.88416	0.562677150329	0.52729	0.86423689127	0.91734	D	0.210159	0.60989	T	-0.0822536	0.39349	T	-0.0914997	0.64049	T	0.842780888080597	0.49555	D	0.987726	0.95824	D	0.7015593	0.78141	0.48744112	0.70338	0.7015593	0.78143	0.48744112	0.70338	-10.211	0.75164	D	0.5594833717404474	0.62736	0.210	0.60324	B	.;.;.	.;.;.	5.177021	0.86786	29.0	0.99861267400868559	0.94002	0.98624	0.84831	D	AEFBI	0.902739	0.85098	D	0.672807700713385	0.77853	6.754984	0.597330167343286	0.74745	6.190054	0.999914744552966	0.45857	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	3.98	3.98	0.45383	9.007000	0.93130	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:0.0:1.0:0.0	13.937	0.63537	628	0.65206	NAD/GMP synthase;.;NAD/GMP synthase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	1831.44	33	chr11	71485638	.	G	A	1831.44	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.828;DP=268;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=13.87;ReadPosRankSum=0.019;SOR=0.741	GT:AD:DP:GQ:PL	0/1:31,35:66:99:781,0,637	5	0	2	0
chr11	74085833	74085833	T	C	exonic	C2CD3	.	nonsynonymous SNV	C2CD3:NM_001286577:exon21:c.A3695G:p.N1232S,C2CD3:NM_015531:exon21:c.A3695G:p.N1232S	.	425	1069	26	2	0	30	0.0138376	.	.	.	237381	C2CD3-related_disorder|not_provided|not_specified	.|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.260	.	0.0062	0.00359425	0.0074	0.0018	0.0025	0.0002	0.0018	0.0090	0.0078	0.0138	0.0071668	1108	154602	rs140307393	0.0081	0.0081	0.0078	0.0084	0.0136	0.0080	0.0079	0.0130	0.0127	0.0013	0.0036	0.0036	5.04e-05	0.0022	0.0133	0.0087	0.0078	0.0136	0.0056	0.0055	0.0057	0.0054	0.0112	0.0052	0.0051	0.0088	0.0082	0.0015	0	0.0054	0.0023	0.0002	0.0016	0.0034	0.0090	0.0038	0.0112	0.065	0.91255	T	0.0	0.92824	D	0.998	0.73220	D	0.994	0.82059	D	0.000000	0.84330	D	0.047690	0.998178	0.44592	D	2.275	0.64647	M	2.1	0.22474	T	-3.73	0.70920	D	0.618	0.67822	-1.0898	0.05565	T	0.087	0.33774	T	9	0.008733511	0.00198	T	.	.	.	0.260	0.57221	.	.	0.730538620245	0.72814	0.6667703258334168	0.66615	0.450404353452	0.44807	0.605244636536	0.53645	T	0.566117	0.85558	D	-0.443432	0.01235	T	-0.398059	0.33611	T	0.00854146172025429	0.00104	T	0.928907	0.75503	D	0.16323857	0.36452	0.28754643	0.54767	0.13781822	0.31896	0.2813219	0.54112	-6.251	0.48333	T	0.8860313117378174	0.94227	0.290	0.52144	B	.;.;.	.;.;.	4.933726	0.81364	27.5	0.99834264341119572	0.91542	0.96462	0.69259	D	AEFBHCI	0.847817	0.76465	D	0.709629925426277	0.80264	7.255832	0.723519105273188	0.84165	8.216543	1.0	0.98316	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.8	5.8	0.92081	7.453000	0.79758	7.851000	0.70967	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.798	0.78201	381	0.83684	C2 domain|C2 domain|C2CD3, C2 domain;.;C2 domain|C2 domain|C2CD3, C2 domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009567	0.010101	0.005435	0.020468	0.000000	0.000000	0.006098	0.015152	0.1429	1722.04	77	chr11	74085833	.	T	C	1722.04	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-1.644;DP=297;ExcessHet=0.3476;FS=4.011;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=11.48;ReadPosRankSum=0.189;SOR=0.433	GT:AD:DP:GQ:PL	0/1:39,34:73:99:836,0,1115	5	0	2	0
chr11	77102945	77102945	G	A	exonic	OMP	.	nonsynonymous SNV	OMP:NM_006189:exon1:c.G106A:p.G36R	.	425	1094	3	0	0	3	0.00136924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	.	0.0107	0.0091853	0.0029	0.0348	0.0010	0	0	9.262e-05	0.0012	0.0001	0.0028072	434	154602	rs2233548	0.0010	0.0010	0.0012	0.0009	0.0365	0.0010	0.0009	0.0348	0.0341	0.0365	0.0013	0	0	0	0.0010	7.105e-05	0.0017	4.637e-05	0.0094	0.0094	0.0097	0.0091	0.0330	0.0090	0.0088	0.0316	0.0310	0.0330	0	0.0024	0	0	0	0	2.94e-05	0.0080	0.0004	0.006	0.61437	D	0.02	0.58613	D	0.642	0.40458	P	0.161	0.34794	B	.	.	.	.	1	0.81001	D	1.495	0.37439	L	1.17	0.37910	T	-4.43	0.77554	D	0.316	0.35620	-1.0970	0.04474	T	0.018	0.07659	T	9	0.004181236	0.00083	T	.	.	.	0.084	0.24469	0.189	0.09907	0.0551355673512	0.04727	0.14134222086519388	0.14057	0.508907322124	0.49035	0.398636013269	0.24879	T	0.237135	0.60475	T	-0.470607	0.00843	T	-0.423009	0.30732	T	0.0521805359844833	0.05879	T	0.779322	0.41328	T	0.31656313	0.54348	0.4309124	0.66726	0.31656313	0.54348	0.4309124	0.66726	-2.058	0.03408	T	.	.	0.204	0.42976	B	.	.	3.651815	0.51831	23.2	0.99916601443515773	0.98449	0.58885	0.30763	D	AEFDGBI	0.094862	0.19173	N	0.083943397921915	0.45715	2.823383	0.186814847202179	0.49125	3.11945	0.985133884994672	0.30834	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	5.12	4.13	0.47661	1.490000	0.35181	5.613000	0.49061	0.676000	0.76740	0.273000	0.25075	1.000000	0.68203	0.769000	0.36481	0.252:0.0:0.748:0.0	4.785	0.12591	526	0.73951	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.005051	0.001362	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	1072.63	35	chr11	77102945	.	G	A	1072.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.58;DP=248;ExcessHet=0;FS=6.048;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.11;ReadPosRankSum=0.639;SOR=1.382	GT:AD:DP:GQ:PL	0/1:39,37:76:99:1083,0,942	6	0	1	0
chr11	77702384	77702384	T	C	exonic	RSF1	.	nonsynonymous SNV	RSF1:NM_016578:exon6:c.A845G:p.D282G	.	441	1056	21	4	0	29	0.0135451	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	.	0.0012	0.00299521	0.0020	9.968e-05	0.0010	0	0.0002	0.0014	0.0022	0.0079	0.0017788	275	154602	rs149599829	0.0013	0.0013	0.0010	0.0016	0.0254	0.0013	0.0012	0.0220	0.0207	0.0007	0.0005	0.0023	7.565e-05	0.0003	0.0254	0.0008	0.0023	0.0078	0.0012	0.0012	0.0011	0.0013	0.0093	0.0010	0.0010	0.0072	0.0064	0.0002	0	0.0012	0.0023	0	0.0004	0.0340	0.0011	0.0038	0.0093	0.074	0.34621	T	0.145	0.33000	T	0.001	0.07471	B	0.001	0.04355	B	0.046415	0.23442	N	0.370958	0.956621	0.46578	D	1.445	0.36358	L	-2.04	0.86415	D	-2.62	0.63090	D	0.156	0.17140	-0.4306	0.71047	T	0.423	0.76783	T	10	0.0058239996	0.00130	T	.	.	.	0.126	0.34673	.	.	0.388737156453	0.38486	0.06564192176107955	0.06503	0.0250102987337	0.02547	0.317823112011	0.13091	T	0.021387	0.33439	T	-0.34498	0.05051	T	-0.26333	0.48490	T	0.0134633381867005	0.00245	T	0.765923	0.39354	T	0.12443495	0.29197	0.14633854	0.34674	0.12443495	0.29197	0.14633854	0.34673	-4.973	0.36633	T	.	.	0.087	0.18497	B	.;.;.;.	.;.;.;.	2.676665	0.34910	19.76	0.98318563966930406	0.40212	0.91193	0.53043	D	AEFBI	0.412134	0.48233	N	-0.267957841629931	0.30392	1.694271	-0.0931855098408182	0.35671	2.066501	0.0647651325479164	0.15339	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.81	3.43	0.38372	1.231000	0.32226	4.158000	0.42192	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0687:0.1293:0.802	8.596	0.32876	533	0.73433	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.018630	0.010101	0.016304	0.046784	0.000000	0.025862	0.003049	0.022727	0.1429	1772.26	36	chr11	77702384	.	T	C	1772.26	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.5;DP=310;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=11.66;ReadPosRankSum=0.913;SOR=0.739	GT:AD:DP:GQ:PL	0/1:41,38:79:99:865,0,867	5	0	2	0
chr11	86400764	86400764	C	T	exonic	CCDC81	.	stopgain	CCDC81:NM_021827:exon6:c.C574T:p.R192X,CCDC81:NM_001156474:exon7:c.C844T:p.R282X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.648e-05	0	0	0	0	1.499e-05	0	6.057e-05	1.29e-05	2	154602	rs765926203	1.233e-05	1.231e-05	1.09e-05	1.377e-05	0.0002	7.7e-06	6.36e-06	1.585e-05	9.31e-06	5.977e-05	0	0	0	0	0.0002	8.101e-06	3.315e-05	4.646e-05	1.974e-05	1.971e-05	2.572e-05	1.347e-05	2.941e-05	5.25e-06	2.46e-06	4.88e-06	1.83e-06	2.416e-05	0	0	0	0	0	0	2.941e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.684534	0.06110	N	1.183800	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.176	0.18920	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.20675	0.74524	D	0.240734	0.85180	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive;.	.;High;.	5.132698	0.85898	28.7	0.99320978378193847	0.59393	0.04899	0.10646	N	AEFI	0.044697	0.07222	N	-0.0398026426260664	0.40058	2.372589	-0.429737591636729	0.24130	1.319608	0.0137007923602226	0.12498	0.615465	0.37627	0	0.573888	0.26702	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	4.9	-0.725	0.10610	-0.052000	0.11821	-0.500000	0.08808	-0.954000	0.02017	0.007000	0.17678	0.000000	0.08366	0.000000	0.00833	0.4385:0.3082:0.0:0.2533	3.530	0.07329	853	0.34956	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1534.53	33	chr11	86400764	.	C	T	1534.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.72;DP=327;ExcessHet=0;FS=1.43;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=-0.048;SOR=0.849	GT:AD:DP:GQ:PL	0/1:56,67:123:99:1545,0,1165	6	0	1	0
chr11	89801771	89801771	C	T	exonic	TRIM49	.	nonsynonymous SNV	TRIM49:NM_020358:exon5:c.G669A:p.M223I	.	932	588	1	1	0	3	0.00254453	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00092450730519	.	.	.	.	.	.	.	.	.	.	0.0008452	22	26028	rs1293181294	0.0059	0.0047	0.0054	0.0063	0.0123	0.0057	0.0057	0.0115	0.0112	0.0007	0.0012	0.0076	3.252e-05	0.0040	0.0063	0.0062	0.0049	0.0123	0.0047	0.0040	0.0047	0.0047	0.0094	0.0043	0.0042	0.0063	0.0060	0.0013	0	0.0020	0.0108	0	0.0054	0.0043	0.0070	0.0037	0.0094	0.174	0.22486	T	0.144	0.33109	T	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0	0.06538	N	3.78	0.03836	T	-1.37	0.33998	N	0.073	0.04668	-0.9105	0.46793	T	0.007	0.02439	T	8	0.006237954	0.00141	T	9.25E-4	0.00889	T	0.019	0.03383	0.522	0.62518	0.043077524339	0.03247	0.03044526464113662	0.02993	2.0043789819	0.93871	0.581990838051	0.50366	T	0.009759	0.08861	T	-0.403208	0.02206	T	-0.816957	0.01515	T	0.00147990334572773	0.00015	T	0.164884	0.01516	T	0.06968662	0.15290	0.07089837	0.15120	0.06968662	0.15289	0.07089837	0.15120	-3.569	0.17410	T	.	.	0.325	0.54890	B	.	.	-0.010184	0.04214	1.030	0.56072420918090116	0.05474	0.00301	0.01603	N	AEFI	0.028021	0.02391	N	-1.34955498525589	0.03130	0.139301	-1.46367434187579	0.02649	0.1221927	2.14990174235377E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.04	-1.99	0.07047	-1.951000	0.01620	-20.000000	0.00162	-0.633000	0.04490	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.4342:0.3158:0.2501	2.504	0.04358	834	0.38640	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	132.66	3	chr11	89801771	.	C	T	132.66	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.293;DP=52;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=26.64;MQRankSum=1.52;QD=8.29;ReadPosRankSum=0.38;SOR=0.34	GT:AD:DP:GQ:PL	0/1:10,6:16:99:142,0,263	5	0	1	1
chr11	92799663	92799663	G	A	exonic	FAT3	.	nonsynonymous SNV	FAT3:NM_001008781:exon10:c.G6650A:p.G2217D,FAT3:NM_001367949:exon10:c.G6650A:p.G2217D	.	427	1090	5	0	0	5	0.00228833	.	.	.	2347783	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.139	0.0136336350508	0.0002	.	0.0002	0	0.0003	0	0	0.0002	0.0023	0.0002	0.0001423	22	154602	rs369227298	0.0002	0.0002	0.0002	0.0001	0.0029	0.0001	0.0001	0.0019	0.0015	2.987e-05	0.0005	0	0	0	0.0029	0.0001	0.0003	0.0002	0.0001	0.0001	0.0001	0.0001	0.0004	9.148e-05	7.703e-05	0.0002	0.0001	2.408e-05	0	0.0004	0	0	0	0.0068	0.0001	0.0005	0.0002	0.072	0.34982	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.996725	0.43377	D	-0.35	0.03145	N	0.68	0.51952	T	-0.03	0.07444	N	0.548	0.57433	-1.0397	0.17404	T	0.102	0.37819	T	9	0.19570878	0.35433	T	0.013634	0.33179	T	0.139	0.37390	.	.	0.33174030287	0.32783	0.5780900417986701	0.57738	.	.	0.684632718563	0.64934	T	0.021429	0.16689	T	-0.295472	0.09093	T	-0.321653	0.42393	T	0.0566989813713922	0.06639	T	.	.	.	0.15896496	0.35735	0.35959753	0.61416	0.15896496	0.35735	0.35959753	0.61416	-6.375	0.49314	T	.	.	0.166	0.36515	B	.;.	.;.	2.936138	0.39022	20.9	0.9952703009885896	0.69591	0.95648	0.65567	D	AEFBI	0.723370	0.67301	D	0.348623391118504	0.58665	4.040363	0.494692732276749	0.67638	5.110874	0.990536827468296	0.32185	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	6.16	6.16	0.99302	4.397000	0.59451	5.969000	0.51963	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	20.860	0.99763	906	0.23090	Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.002717	0.008772	0.000000	0.008621	0.000000	0.000000	0.07143	2482.44	51	chr11	92799663	.	G	A	2482.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.053;DP=670;ExcessHet=0;FS=8.103;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.32;ReadPosRankSum=1.09;SOR=0.461	GT:AD:DP:GQ:PL	0/1:73,89:162:99:2493,0,1949	6	0	1	0
chr11	92844183	92844183	A	G	exonic	FAT3	.	nonsynonymous SNV	FAT3:NM_001008781:exon19:c.A10816G:p.I3606V,FAT3:NM_001367949:exon19:c.A10816G:p.I3606V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.00782656886405	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	.	6.841e-07	6.84e-07	0	1.375e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	0.12305	T	.	.	.	0.001	0.07471	B	0.005	0.11217	B	.	.	.	.	0.958183	0.38062	D	1.08	0.27187	L	3.08	0.08460	T	-0.12	0.08809	N	0.345	0.39457	-0.9926	0.31933	T	0.016	0.06616	T	9	0.18861127	0.34424	T	0.007827	0.20773	T	0.034	0.08419	0.385	0.40460	0.206203607746	0.20212	0.2489319392235775	0.24807	.	.	0.610027909279	0.54320	T	0.033795	0.23059	T	-0.219981	0.17996	T	-0.553764	0.16966	T	0.33818730711937	0.26552	T	.	.	.	0.034002017	0.03731	0.050469548	0.07929	0.034002017	0.03731	0.050469548	0.07928	-5.597	0.42765	T	.	.	0.124	0.25978	B	.;.	.;.	2.033190	0.25845	16.91	0.97450214728823181	0.34028	0.67646	0.33508	D	AEFBCI	0.591183	0.58738	D	-0.251714278590061	0.31036	1.736278	-0.069006664694718	0.36678	2.13768	0.99997750904849	0.50053	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	5.82	3.55	0.39770	4.487000	0.60022	6.284000	0.55386	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.846000	0.39970	0.8583:0.0:0.1417:0.0	9.388	0.37517	840	0.37365	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	2223.44	36	chr11	92844183	.	A	G	2223.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-4.942;DP=411;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.56;ReadPosRankSum=-0.257;SOR=0.674	GT:AD:DP:GQ:PL	0/1:84,93:177:99:2234,0,2330	6	0	1	0
chr11	94073087	94073087	G	A	exonic	HEPHL1	.	nonsynonymous SNV	HEPHL1:NM_001098672:exon7:c.G1295A:p.R432Q	.	0	225	1	0	0	1	0.00221729	.	.	.	3206721	HEPHL1-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.310	.	0.0100	0.0081869	0.0031	0.0315	0.0017	0	0.0015	0.0005	0.0045	0.0001	0.0029236	452	154602	rs78786722	0.0013	0.0013	0.0014	0.0012	0.0321	0.0013	0.0012	0.0305	0.0299	0.0321	0.0026	7.661e-05	2.52e-05	0.0015	0.0026	0.0004	0.0029	0.0002	0.0090	0.0090	0.0092	0.0088	0.0296	0.0086	0.0085	0.0282	0.0277	0.0296	0	0.0048	0	0	0.0015	0	0.0004	0.0109	0	0.417	0.09927	T	0.46	0.12597	T	0.003	0.11197	B	0.002	0.06944	B	0.563590	0.11311	N	0.822486	0.999628	0.20843	N	0.445	0.12748	N	-5.29	0.98959	D	-0.64	0.18670	N	0.164	0.17278	0.119	0.84515	D	0.683	0.89051	D	10	0.005366564	0.00118	T	.	.	.	0.310	0.63162	.	.	0.382761230579	0.37889	0.6867809471568777	0.68618	0.0422618080471	0.04555	0.190293341875	0.00230	T	0.028318	0.20539	T	-0.434092	0.01401	T	-0.372634	0.36581	T	0.000776231852140198	0.00007	T	0.779122	0.41282	T	0.03177751	0.03079	0.037940696	0.03556	0.03177751	0.03079	0.037940696	0.03556	-3.637	0.18393	T	.	.	0.068	0.02670	B	.	.	0.910134	0.12847	9.358	0.7832028188089184	0.12250	0.08018	0.13996	N	AEFBI	0.047971	0.08137	N	-1.08934122503407	0.06838	0.3159561	-1.05124998407491	0.08681	0.4280247	1.31955141705747E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.76	0.043	0.13535	0.093000	0.14925	0.333000	0.17304	-0.105000	0.15698	0.020000	0.19661	0.003000	0.18671	0.891000	0.42908	0.7216:0.0:0.2784:0.0	11.548	0.49955	759	0.50631	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002518	0.005051	0.001359	0.002924	0.000000	0.008621	0.000000	0.000000	0.07143	476.83	34	chr11	94073087	.	G	A	476.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.512;DP=222;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.6;ReadPosRankSum=-0.409;SOR=0.627	GT:AD:DP:GQ:PL	0/1:23,22:45:99:487,0,507	6	0	1	0
chr11	101127464	101127464	T	G	exonic	PGR	.	nonsynonymous SNV	PGR:NM_000926:exon1:c.A1607C:p.Q536P,PGR:NM_001202474:exon1:c.A1115C:p.Q372P,PGR:NM_001271161:exon1:c.A1115C:p.Q372P	.	0	1519	3	0	0	3	0.000986518	.	.	.	724155	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.043	.	0.0031	0.00858626	0.0036	0.0567	0.0048	0	0	0.0001	0	0.0001	0.0010931	169	154602	rs11571152	0.0005	0.0005	0.0006	0.0005	0.0175	0.0005	0.0005	0.0163	0.0158	0.0175	0.0013	0	0	0	0.0012	4.411e-05	0.0019	9.991e-05	0.0047	0.0047	0.0048	0.0045	0.0159	0.0044	0.0043	0.0149	0.0145	0.0159	0	0.0028	0	0	0	0	7.358e-05	0.0019	0	0.092	0.38863	T	0.253	0.27679	T	0.055	0.22733	B	0.026	0.20792	B	0.716625	0.09970	N	0.773349	0.967196	0.81001	D	1.5	0.37844	L	2.95	0.09635	T	-1.61	0.40660	N	0.246	0.36148	-1.0455	0.15680	T	0.017	0.06950	T	10	0.0048434734	0.00103	T	.	.	.	0.043	0.11576	.	.	0.399796912067	0.39594	0.5782030882205793	0.57749	.	.	0.718276500702	0.69795	T	0.110623	0.42546	T	-0.532922	0.00369	T	-0.524002	0.19890	T	0.020587926921167	0.00759	T	0.70223	0.32446	T	0.35324353	0.57318	0.37499183	0.62653	0.35324353	0.57318	0.37499183	0.62652	-3.504	0.24460	T	.	.	0.064	0.08224	B	.;.;.;.	.;.;.;.	2.191271	0.27940	17.63	0.9358195746043747	0.23430	0.76269	0.37393	D	AEFDBHCIJ	0.182000	0.30932	N	-0.655192677972204	0.17309	0.8895835	-0.544082436977531	0.20963	1.131827	0.999996945565946	0.74766	0.437478	0.07067	0	0.563428	0.19063	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	4.03	2.87	0.32523	0.863000	0.27567	1.855000	0.29283	-0.279000	0.06446	1.000000	0.71638	1.000000	0.68203	0.783000	0.37026	0.0:0.0:0.3506:0.6493	9.327	0.37159	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	0.002709	0.011494	0.001374	0.000000	0.000000	0.018182	0.000000	0.000000	0.07143	391.63	27	chr11	101127464	.	T	G	391.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.024;DP=219;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.16;ReadPosRankSum=-0.411;SOR=0.599	GT:AD:DP:GQ:PL	0/1:29,19:48:99:402,0,717	6	0	1	0
chr11	102871809	102871809	C	T	exonic	MMP12	.	nonsynonymous SNV	MMP12:NM_002426:exon3:c.G494A:p.R165H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0018	0.00119808	0.0004	0.0040	0.0002	0	0	0	0	0.0001	0.0003105	48	154602	rs61730845	0.0001	0.0001	0.0001	0.0001	0.0039	0.0001	0.0001	0.0033	0.0031	0.0039	0.0004	0	0	0	0	1.71e-05	0.0003	0.0002	0.0011	0.0011	0.0012	0.0010	0.0039	0.0010	0.0009	0.0034	0.0032	0.0039	0	0.0004	0	0	0	0	2.94e-05	0.0005	0	.	.	.	0.518	0.10536	T	0.018	0.17786	B	0.002	0.06944	B	.	.	.	.	.	.	.	.	.	.	0.55	0.54728	T	.	.	.	0.107	0.09207	.	.	.	.	.	.	.	0.0066146255	0.00150	T	.	.	.	.	.	.	.	0.500994481783	0.49735	0.5039522868909695	0.50317	.	.	0.201184004545	0.00492	T	0.100561	0.40647	T	-0.488127	0.00666	T	-0.474457	0.25037	T	.	.	.	0.744226	0.36418	T	0.10593887	0.25049	0.11957267	0.28860	0.10593887	0.25049	0.11957267	0.28859	-6.126	0.47322	T	.	.	0.089	0.12037	B	.	.	-0.775123	0.01156	0.055	0.36164242022524651	0.02311	0.04719	0.10413	N	AEFGBI	.	.	.	.	.	.	.	.	.	0.896948939006969	0.25990	0.06567	0.01388	0	0.063388	0.01293	0	0.063197	0.01477	0	0.075334	0.01956	0	0.0554835	0.12919	5.31	-10.6	0.00212	-0.989000	0.03846	-3.145000	0.03023	-0.780000	0.03343	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.1483:0.3609:0.2987:0.192	2.873	0.05276	732	0.54084	Peptidase M10, metallopeptidase|Peptidase, metallopeptidase|Peptidase M10A, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.008621	0.000000	0.000000	0.07143	1241.44	33	chr11	102871809	.	C	T	1241.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.25;DP=321;ExcessHet=0;FS=1.429;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.62;ReadPosRankSum=1.07;SOR=0.77	GT:AD:DP:GQ:PL	0/1:78,51:129:99:1252,0,1842	6	0	1	0
chr11	103236469	103236469	A	G	exonic	DYNC2H1	.	nonsynonymous SNV	DYNC2H1:NM_001080463:exon63:c.A9749G:p.Q3250R,DYNC2H1:NM_001377:exon63:c.A9749G:p.Q3250R	Short-rib thoracic dysplasia 3 with or without polydactyly, Autosomal recessive, Digenic recessive	11	1492	18	1	0	20	0.00665779	.	.	.	195492	Asphyxiating_thoracic_dystrophy_3|not_provided|Short_rib-polydactyly_syndrome|not_specified|Jeune_thoracic_dystrophy	MONDO:MONDO:0013127,MedGen:C0036069,OMIM:613091,Orphanet:474,Orphanet:93269,Orphanet:93270,Orphanet:93271|MedGen:C3661900|MONDO:MONDO:0015461,MedGen:C0036996,Orphanet:1505|MedGen:CN169374|MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500,Orphanet:474	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.174	.	0.0012	0.00239617	0.0029	0.0002	0.0009	0	0	0.0022	0.0022	0.0116	0.002652	410	154602	rs140830294	0.0023	0.0024	0.0021	0.0026	0.0115	0.0023	0.0022	0.0109	0.0106	0.0002	0.0011	0.0131	0	0.0002	0.0112	0.0016	0.0031	0.0115	0.0019	0.0019	0.0020	0.0017	0.0114	0.0017	0.0016	0.0090	0.0081	0.0003	0	0.0026	0.0138	0	0.0002	0.0068	0.0017	0.0038	0.0114	0.282	0.19430	T	0.552	0.09393	T	0.065	0.37483	B	0.056	0.39069	B	0.000457	0.44317	D	0.198629	0.999991	0.81001	D	0.875	0.21512	L	1.65	0.38883	T	-2.25	0.50337	N	0.51	0.57946	-1.0627	0.11093	T	0.092	0.35119	T	10	0.009339243	0.00211	T	.	.	.	0.174	0.44019	.	.	0.716290961394	0.71379	0.6241017257502343	0.62343	0.0691000608039	0.07735	0.715855002403	0.69442	T	0.171879	0.52016	T	-0.361006	0.04073	T	-0.281941	0.46606	T	0.0231418284931443	0.01040	T	0.863414	0.55914	D	0.45513895	0.64367	0.37592888	0.62726	0.4375642	0.63245	0.43919477	0.67280	-9.413	0.70316	D	0.39480278463588137	0.48747	0.273	0.54529	B	.;.;.;.	.;.;.;.	3.637035	0.51552	23.1	0.996764475609072	0.78977	0.98797	0.86978	D	AEFI	0.909330	0.86581	D	0.186195066284451	0.50537	3.242698	0.36461638688929	0.59393	4.116746	0.99924527578784	0.38873	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	5.69	5.69	0.88346	8.800000	0.91521	.	.	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	1.0:0.0:0.0:0.0	15.990	0.79993	603	0.67726	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008065	0.000000	0.008152	0.017647	0.050000	0.008621	0.000000	0.007576	0.1429	1215.04	34	chr11	103236469	.	A	G	1215.04	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.269;DP=231;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=0.641;SOR=0.669	GT:AD:DP:GQ:PL	0/1:18,25:43:99:560,0,383	5	0	2	0
chr11	106010659	106010659	C	G	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G259C:p.A87P,MSANTD4:NM_001318748:exon2:c.G259C:p.A87P,MSANTD4:NM_001318749:exon2:c.G259C:p.A87P,MSANTD4:NM_001318750:exon2:c.G259C:p.A87P,MSANTD4:NM_032424:exon2:c.G259C:p.A87P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.00459803515366	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.232	0.56192	T	0.789	0.44570	P	0.266	0.39732	B	0.000011	0.62929	D	0.111292	0.997442	0.43893	D	0.895	0.22405	L	.	.	.	-1.67	0.45404	N	0.439	0.47765	-0.9091	0.46965	T	0.128	0.43524	T	9	0.3502357	0.51900	T	0.004598	0.11377	T	0.141	0.37795	0.425	0.47021	0.354822389136	0.35094	0.7275256235572604	0.72696	0.716697243913	0.62006	0.596363663673	0.52391	T	0.064719	0.32505	T	0.133721	0.67721	D	-0.0456953	0.67316	D	0.881986200809479	0.53207	D	0.772023	0.40277	T	0.39838198	0.60620	0.35209376	0.60793	0.39838198	0.60621	0.35209376	0.60792	-6.644	0.51388	T	.	.	0.505	0.65603	A	.;.;.	.;.;.	3.825878	0.55270	23.6	0.996785884463948	0.79108	0.93283	0.57804	D	AEFGBI	0.427184	0.49123	N	0.316991759729759	0.57021	3.867974	0.412391093461756	0.62335	4.447326	0.999902434550218	0.45458	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	5.88	0.94564	1.369000	0.33832	4.008000	0.41136	-0.176000	0.10722	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.145:0.7831:0.0:0.0719	9.319	0.37114	725	0.54935	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	6014.11	64	chr11	106010659	.	C	G	6014.11	.	AC=2;AF=0.25;AN=8;BaseQRankSum=-5.649;DP=935;ExcessHet=3.1439;FS=266.032;MLEAC=3;MLEAF=0.375;MQ=60;MQRankSum=0;QD=7.64;ReadPosRankSum=3.18;SOR=10.936	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:152,22:174:99:0|1:106010659_C_G:299,0,6167:106010659	2	0	2	3
chr11	106010660	106010660	C	G	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G258C:p.K86N,MSANTD4:NM_001318748:exon2:c.G258C:p.K86N,MSANTD4:NM_001318749:exon2:c.G258C:p.K86N,MSANTD4:NM_001318750:exon2:c.G258C:p.K86N,MSANTD4:NM_032424:exon2:c.G258C:p.K86N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.00140864098182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.794e-06	5.338e-05	6.814e-06	2.753e-06	1.16e-05	1.99e-06	1.28e-06	1.32e-06	9.6e-07	0	0	0	0	0	0	4.502e-06	1.657e-05	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.628	0.09572	T	0.455	0.12776	T	0.001	0.07471	B	0.002	0.06944	B	0.000777	0.41888	D	0.252245	0.672182	0.30354	N	1.1	0.28011	L	.	.	.	-0.42	0.25986	N	0.046	0.01825	-1.0800	0.07349	T	0.039	0.16935	T	9	0.07250753	0.10832	T	0.001409	0.02088	T	0.035	0.08770	0.333	0.32005	0.180583059064	0.17676	0.42697714804244885	0.42614	0.368530488454	0.38403	0.557739257812	0.46948	T	0.028728	0.20742	T	-0.209044	0.19513	T	-0.538054	0.18489	T	0.29334169626236	0.24729	T	0.788921	0.43637	T	0.06988713	0.15349	0.040901218	0.04526	0.06988713	0.15349	0.040901218	0.04526	-4.897	0.35701	T	.	.	0.261	0.51359	B	.;.;.	.;.;.	2.485158	0.32052	18.93	0.96605095872499003	0.30423	0.93307	0.57867	D	AEFGBI	0.282833	0.39607	N	-0.459278369652404	0.23427	1.257956	-0.24408778769958	0.29975	1.683831	0.956715357216671	0.28262	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	3.03	0.34070	0.769000	0.26267	2.724000	0.34335	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.2344:0.4203:0.1184:0.227	1.144	0.01662	725	0.54935	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	6438.8	64	chr11	106010660	.	C	G	6438.8	.	AC=4;AF=0.5;AN=8;BaseQRankSum=-2.366;DP=932;ExcessHet=3.1439;FS=287.19;MLEAC=5;MLEAF=0.625;MQ=60;MQRankSum=0;QD=8.22;ReadPosRankSum=3.22;SOR=9.673	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:154,22:176:99:0|1:106010659_C_G:293,0,6251:106010659	0	0	4	3
chr11	106010663	106010663	C	T	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G255A:p.M85I,MSANTD4:NM_001318748:exon2:c.G255A:p.M85I,MSANTD4:NM_001318749:exon2:c.G255A:p.M85I,MSANTD4:NM_001318750:exon2:c.G255A:p.M85I,MSANTD4:NM_032424:exon2:c.G255A:p.M85I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.00279040284091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.44694	D	0.465	0.47097	T	0.002	0.09854	B	0.004	0.10090	B	0.000001	0.84330	D	0.055431	0.902327	0.36202	D	-0.69	0.01958	N	.	.	.	-0.5	0.23156	N	0.133	0.12913	-0.9843	0.33998	T	0.104	0.38218	T	9	0.1143381	0.21509	T	0.00279	0.05810	T	0.047	0.12962	0.294	0.25720	0.256793551483	0.25290	0.12417175146048018	0.12343	0.345896987908	0.36490	0.592615962029	0.51864	T	0.021651	0.16823	T	-0.0923724	0.37684	T	-0.370463	0.36834	T	0.580747902393341	0.35647	D	0.831217	0.49813	T	0.22625625	0.45303	0.16779238	0.38690	0.22625625	0.45303	0.16779238	0.38689	-3.688	0.19141	T	.	.	0.249	0.48345	B	.;.;.	.;.;.	3.089872	0.41597	21.4	0.98105666193469465	0.38310	0.97626	0.75993	D	AEFGBI	0.400041	0.47508	N	-0.174858718993864	0.34183	1.948093	0.081881515894591	0.43638	2.661421	0.99999720305351	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	1.803000	0.38500	5.949000	0.51615	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.8636:0.1364:0.0	15.669	0.77014	725	0.54935	Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-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	.	.	.	.	.	.	.	.	0.375	4841.7	72	chr11	106010663	.	C	T	4841.7	.	AC=3;AF=0.375;AN=8;BaseQRankSum=-4.068;DP=942;ExcessHet=3.1439;FS=240.854;MLEAC=4;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.98;ReadPosRankSum=3.4;SOR=10.859	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:161,22:183:99:0|1:106010659_C_G:272,0,6529:106010659	1	0	3	3
chr11	106010664	106010664	A	G	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.T254C:p.M85T,MSANTD4:NM_001318748:exon2:c.T254C:p.M85T,MSANTD4:NM_001318749:exon2:c.T254C:p.M85T,MSANTD4:NM_001318750:exon2:c.T254C:p.M85T,MSANTD4:NM_032424:exon2:c.T254C:p.M85T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.00433488665054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.369e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.019	0.69154	D	0.007	0.14184	B	0.034	0.22546	B	0.000001	0.84330	D	0.055431	0.974346	0.39097	D	0	0.06538	N	.	.	.	-0.98	0.25986	N	0.258	0.29197	-0.9720	0.36776	T	0.117	0.41209	T	9	0.18700442	0.34192	T	0.004335	0.10529	T	0.101	0.28911	0.307	0.27806	0.379881503574	0.37595	0.25955710480305316	0.25869	0.399169766946	0.40951	0.666570842266	0.62349	T	0.035133	0.23597	T	0.00410563	0.52221	T	-0.231879	0.51589	T	0.783289670944214	0.45256	D	0.79692	0.44048	T	0.42211768	0.62233	0.30941108	0.56956	0.42211768	0.62233	0.30941108	0.56955	-1.765	0.02407	T	.	.	0.407	0.59964	A	.;.;.	.;.;.	3.510524	0.49159	22.7	0.97899140483582825	0.36731	0.98220	0.80657	D	AEFGBI	0.640959	0.61847	D	-0.0622681486623968	0.39056	2.297149	0.183205801398182	0.48926	3.102239	0.999999972724126	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	6.214000	0.72143	11.169000	0.87908	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	16.275	0.82465	725	0.54935	Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	5505.39	72	chr11	106010664	.	A	G	5505.39	.	AC=4;AF=0.5;AN=8;BaseQRankSum=-2.258;DP=944;ExcessHet=3.1439;FS=239.419;MLEAC=5;MLEAF=0.625;MQ=60;MQRankSum=0;QD=6.77;ReadPosRankSum=3.45;SOR=10.876	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:161,22:183:99:0|1:106010659_C_G:272,0,6529:106010659	0	0	4	3
chr11	106010667	106010667	C	T	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G251A:p.R84K,MSANTD4:NM_001318748:exon2:c.G251A:p.R84K,MSANTD4:NM_001318749:exon2:c.G251A:p.R84K,MSANTD4:NM_001318750:exon2:c.G251A:p.R84K,MSANTD4:NM_032424:exon2:c.G251A:p.R84K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.00259240547793	.	0.000199681	8.238e-06	0	0	0	0	0	0	6.056e-05	1.29e-05	2	154602	rs561321456	6.841e-07	6.84e-07	0	1.375e-06	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	6.572e-06	1.313e-05	1.286e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.218	0.19090	T	0.747	0.04860	T	0.0	0.02946	B	0.002	0.06944	B	0.002354	0.36727	N	0.299972	0.844051	0.35114	D	0.69	0.16971	N	.	.	.	-0.07	0.08495	N	0.114	0.10198	-0.8777	0.49943	T	0.136	0.45241	T	9	0.07382545	0.11204	T	0.002592	0.05235	T	0.042	0.11227	0.367	0.37524	0.274366138417	0.27033	0.40402514392590105	0.40318	0.389484333747	0.40189	0.525025010109	0.42334	T	0.028825	0.20791	T	-0.16679	0.25721	T	-0.380505	0.35662	T	0.222574869783589	0.21591	T	0.680032	0.28847	T	0.098485895	0.23231	0.10551929	0.25367	0.098485895	0.23231	0.10551929	0.25367	-3.047	0.10696	T	.	.	0.080	0.07697	B	.;.;.	.;.;.	2.801802	0.36860	20.4	0.67663913896592942	0.08422	0.86253	0.45498	D	AEFGBI	0.191163	0.31837	N	-0.163816012127879	0.34649	1.980253	0.0201264286488667	0.40651	2.429427	0.997302788968075	0.35478	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	4.01	0.45821	2.982000	0.49027	4.834000	0.45225	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.8616:0.0:0.1384	12.064	0.52876	725	0.54935	Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-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	.	.	.	.	.	.	.	.	0.375	4766.7	66	chr11	106010667	.	C	T	4766.7	.	AC=3;AF=0.375;AN=8;BaseQRankSum=-4.542;DP=966;ExcessHet=3.1439;FS=231.764;MLEAC=4;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.73;ReadPosRankSum=4.07;SOR=10.85	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:174,22:196:99:0|1:106010659_C_G:234,0,6825:106010659	1	0	3	3
chr11	111882521	111882521	C	T	exonic	C11orf1	.	nonsynonymous SNV	C11orf1:NM_001330371:exon2:c.C199T:p.R67C,C11orf1:NM_022761:exon2:c.C199T:p.R67C	.	429	1089	4	0	0	4	0.00183318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	.	.	0.00399361	0.0021	9.626e-05	0.0003	0	0	0	0	0.0152	0.0018111	280	154602	rs201320359	0.0010	0.0010	0.0005	0.0014	0.0155	0.0009	0.0009	0.0148	0.0145	2.987e-05	4.474e-05	0	2.519e-05	0	0.0007	8.094e-06	0.0008	0.0155	0.0006	0.0006	0.0003	0.0008	0.0164	0.0005	0.0004	0.0135	0.0124	2.407e-05	0	6.537e-05	0	0.0002	0	0	2.941e-05	0	0.0164	0.06	0.45756	T	0.047	0.61642	D	0.996	0.90584	D	0.745	0.66095	P	0.460203	0.12401	N	0.757948	0.77061	0.34146	D	2.39	0.68882	M	1.42	0.33189	T	-4.79	0.80595	D	0.135	0.19728	-0.8036	0.54932	T	0.155	0.48568	T	10	0.007807523	0.00177	T	.	.	.	0.147	0.38986	0.515	0.61459	0.488687234069	0.48499	0.28955286910827294	0.28868	0.15491243362	0.17493	.	.	.	0.039347	0.25157	T	-0.448199	0.01157	T	-0.403609	0.32965	T	0.22536727335215	0.21729	T	0.168783	0.01571	T	0.10813217	0.25568	0.12820096	0.30848	0.10813217	0.25568	0.12820096	0.30847	-5.339	0.40327	T	.	.	0.069	0.11510	B	.;.;.;.;.	.;.;.;.;.	2.555685	0.33087	19.24	0.99931167971893431	0.99387	0.20278	0.20981	N	AEFBI	0.219143	0.34406	N	0.283919899427849	0.55332	3.697422	0.218439399026771	0.50870	3.274681	0.999364741650157	0.39301	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.631631	0.49550	0	.	.	5.41	4.46	0.53567	0.244000	0.17899	-0.085000	0.12129	-0.962000	0.01975	0.000000	0.06391	0.000000	0.08366	0.617000	0.31819	0.261:0.739:0.0:0.0	12.329	0.54353	87	0.96348	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.000000	0.1429	3269.24	33	chr11	111882521	.	C	T	3269.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.5;DP=407;ExcessHet=0.3476;FS=0.458;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=13.02;ReadPosRankSum=0.749;SOR=0.734	GT:AD:DP:GQ:PL	0/1:54,70:124:99:1866,0,1258	5	0	2	0
chr11	116820959	116820959	T	C	exonic	APOA4	.	nonsynonymous SNV	APOA4:NM_000482:exon3:c.A1099G:p.T367A	.	1	941	461	91	28	671	0.254653	.	.	.	1665716	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.053	0.0120121571706	.	0.000399361	0.0014	0.0002	0.0008	0.0001	0	0.0018	0.0044	0.0017	0.0012936	200	154602	rs675	0.0013	0.0013	0.0012	0.0014	0.0232	0.0012	0.0012	0.0200	0.0188	0.0010	0.0007	0.0024	0	7.49e-05	0.0232	0.0012	0.0016	0.0024	0.0009	0.0009	0.0010	0.0009	0.0017	0.0008	0.0008	0.0009	0.0009	0.0002	0.0242	0.0006	0.0032	0	0	0.0136	0.0011	0.0014	0.0017	0.414	0.10020	T	0.339	0.18071	T	.	.	.	.	.	.	0.407012	0.13048	N	0.640140	1	0.08975	N	.	.	.	-0.72	0.72994	T	0.21	0.04776	N	0.037	0.01135	-1.0196	0.23845	T	0.163	0.49881	T	10	0.00393337	0.00075	T	0.012012	0.30193	T	0.053	0.14996	.	.	0.202949470691	0.19918	0.06988835794818526	0.06926	0.0511132485683	0.05625	0.253537476063	0.04150	T	.	.	.	-0.580172	0.00192	T	-0.612629	0.11772	T	0.00288888462819159	0.00030	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.03162	B	.	.	0.562637	0.09313	6.093	0.56217289249236624	0.05505	0.01906	0.05837	N	AEFDBI	0.101439	0.20374	N	-1.04106067913846	0.07763	0.3617752	-1.0807239329008	0.08080	0.3957362	0.998166737742862	0.36515	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.7	0.012	0.13411	-0.211000	0.09336	0.239000	0.16284	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.176000	0.21171	0.0992:0.2603:0.282:0.3586	2.065	0.03382	492	0.76569	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.07143	17150.0	104	chr11	116820959	.	T	C	17150.0	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.343;DP=850;ExcessHet=0.0509;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=21.82;ReadPosRankSum=2.37;SOR=0.736	GT:AD:DP:GQ:PL	0/1:0,71:127:99:3635,1514,1301	6	0	1	0
chr11	124023839	124023839	C	G	exonic	OR10G9	.	nonsynonymous SNV	OR10G9:NM_001001953:exon1:c.C827G:p.T276S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.161	0.000971598848654	7.7e-05	.	8.238e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs372610802	6.841e-06	6.84e-06	5.445e-06	8.25e-06	0.0003	3.46e-06	2.52e-06	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	7.194e-06	0	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	0.017	0.51248	D	0.126	0.35205	T	0.987	0.61912	D	0.961	0.70482	D	0.001007	0.40652	N	0.000000	0.964974	0.25958	N	1.47	0.36993	L	8.54	0.00194	T	-2.23	0.50012	N	0.164	0.17278	-0.8698	0.50544	T	0.001	0.00467	T	10	0.22419497	0.39218	T	9.72E-4	0.01003	T	0.161	0.41658	0.368	0.37687	0.523031302909	0.51948	0.0791907192702189	0.07854	0.439910430065	0.44006	0.236803084612	0.02510	T	0.013135	0.11417	T	-0.252624	0.13778	T	-0.537008	0.18591	T	0.480200380086899	0.31904	T	0.591241	0.21771	T	0.1840355	0.39699	0.21118048	0.45536	0.1840355	0.39699	0.21118048	0.45535	-5.038	0.37250	T	.	.	0.189	0.40666	B	.	.	2.406253	0.30922	18.58	0.99450764571976469	0.65274	0.81532	0.40916	D	AEFGI	0.169334	0.29616	N	0.409306896304069	0.61932	4.401358	0.295016094256089	0.55249	3.687997	7.84384067528615E-4	0.07810	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.39	3.39	0.37919	1.541000	0.35732	-1.654000	0.04978	0.546000	0.25710	0.005000	0.17040	0.000000	0.08366	0.026000	0.12556	0.0:1.0:0.0:0.0	14.048	0.64236	810	0.42761	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	2340.44	44	chr11	124023839	.	C	G	2340.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.9;DP=534;ExcessHet=0;FS=4.019;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=-0.749;SOR=0.456	GT:AD:DP:GQ:PL	0/1:111,103:214:99:2351,0,2961	6	0	1	0
chr11	130428225	130428225	A	0	exonic	ADAMTS8	.	.	.	.	0	70	1	0	155	156	0.0070922	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	44.96	9	chr11	130428225	.	A	*	44.96	.	AC=5;AF=0.357;AN=14;BaseQRankSum=1.59;DP=106;ExcessHet=1.4958;FS=1.17;MLEAC=5;MLEAF=0.357;MQ=60;MQRankSum=0;QD=0.96;ReadPosRankSum=1.73;SOR=0.474	GT:AD:DP:GQ:PL	1/1:0,14:14:42:630,42,0	3	1	3	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	.	.	.	.	.	.	.	.	0.3333	1125.34	42	chr12	4591261	.	G	C	1125.34	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-0.171;DP=375;ExcessHet=3.1439;FS=570.035;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=4.69;ReadPosRankSum=0.45;SOR=9.855	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:26,20:46:99:0|1:4591261_G_C:182,0,240:4591261	2	0	4	1
chr12	5732874	5732874	G	A	exonic	ANO2	.	nonsynonymous SNV	ANO2:NM_001278596:exon14:c.C1441T:p.R481C,ANO2:NM_001278597:exon14:c.C1429T:p.R477C	.	433	1065	23	1	0	25	0.0116009	.	.	.	713674	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.095	.	0.0010	0.0113818	0.0061	0.0011	0.0011	0.0257	0	0.0009	0.0034	0.0263	0.0055885	864	154602	rs149972273	0.0028	0.0028	0.0022	0.0035	0.0262	0.0028	0.0027	0.0249	0.0244	0.0010	0.0007	0.0005	0.0262	0.0002	0.0101	0.0004	0.0055	0.0252	0.0024	0.0024	0.0016	0.0031	0.0290	0.0022	0.0021	0.0251	0.0236	0.0008	0	0.0007	0.0003	0.0243	9.422e-05	0.0034	0.0005	0.0052	0.0290	0.08	0.33585	T	0.045	0.49390	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-0.08	0.63911	T	-0.54	0.16598	N	0.592	0.61172	-0.9495	0.41058	T	0.057	0.24092	T	9	0.0055063367	0.00122	T	.	.	.	0.095	0.27398	.	.	0.393316636838	0.38940	0.5105546854250924	0.50977	0.263660577288	0.28920	0.43979716301	0.30549	T	.	.	.	-0.375224	0.03338	T	-0.29081	0.45689	T	0.0356721344788682	0.02924	T	0.524548	0.17205	T	.	.	.	.	.	.	.	.	-11.015	0.79740	D	.	.	0.345	0.56278	A	.;.	.;.	2.618262	0.34018	19.51	0.99907671588646918	0.97801	0.73293	0.35854	D	AEFBI	0.439860	0.49866	N	0.256190215304296	0.53946	3.561518	0.317228485028781	0.56552	3.818653	0.998640109657231	0.37371	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.711	0.71501	0	.	.	4.76	3.79	0.42757	2.892000	0.48323	6.148000	0.54152	0.676000	0.76740	1.000000	0.71638	0.998000	0.33993	0.992000	0.67800	0.0:0.0:0.8153:0.1847	11.908	0.52005	916	0.20744	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007553	0.000000	0.001359	0.011696	0.000000	0.000000	0.015244	0.022727	0.07143	1389.44	37	chr12	5732874	.	G	A	1389.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.54;DP=342;ExcessHet=0;FS=2.245;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=0.55;SOR=0.515	GT:AD:DP:GQ:PL	0/1:69,58:127:99:1400,0,1617	6	0	1	0
chr12	10075503	10075503	C	A	splicing	CLEC1A	NM_001297749:exon2:c.267+1G>T;NM_016511:exon4:c.543+1G>T;NM_001297751:exon4:c.279+1G>T;NM_001297750:exon5:c.279+1G>T;NM_001297748:exon3:c.444+1G>T	.	.	.	.	.	.	.	.	.	.	1.0000	0.936	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.332283	0.85318	D	0.239525	0.85126	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	4.870096	0.79777	27.2	0.99401343927430619	0.62841	0.90983	0.52633	D	AEFDBI	.	.	.	1.00022495450708	0.95751	13.92819	0.820616741358767	0.91190	10.76225	0.875402632198417	0.25505	0.086534	0.02243	0	0.085267	0.02369	0	0.063197	0.01477	0	0.084962	0.02358	0	0.946276	0.61085	5.06	5.06	0.67838	3.621000	0.53951	7.518000	0.59719	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.891000	0.42908	0.0:1.0:0.0:0.0	14.293	0.65848	923	0.18507	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1004.45	42	chr12	10075503	.	C	A	1004.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.72;DP=263;ExcessHet=0;FS=0.866;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=1.05;SOR=0.816	GT:AD:DP:GQ:PL	0/1:35,43:78:99:1015,0,828	6	0	1	0
chr12	11171445	11171445	G	A	exonic	SMIM10L1	.	nonsynonymous SNV	SMIM10L1:NM_001271592:exon1:c.G89A:p.G30E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.72224	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.702	0.70615	.	.	.	.	.	.	.	0.78117424	0.77866	D	.	.	.	.	.	.	.	.	.	0.6853887368857406	0.68477	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.877812	0.59215	D	0.33958247	0.56247	0.60669684	0.77133	0.33958247	0.56247	0.60669684	0.77134	-3.822	0.21134	T	.	.	0.863	0.80494	P	.	.	5.244023	0.88041	29.5	0.98044460064142314	0.37820	0.43883	0.27196	N	ALL	.	.	.	.	.	.	.	.	.	0.999999999999879	0.74766	0.08998	0.02334	0	0.098	0.03038	0	0.054209	0.00285	2	0.159066	0.04077	0	0.423428	0.38116	3.77	2.84	0.32241	4.929000	0.63156	8.641000	0.77894	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.1863:0.8137:0.0	11.319	0.48644	952	0.10565	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	647.46	46	chr12	11171445	.	G	A	647.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.266;DP=329;ExcessHet=0;FS=0.843;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.53;ReadPosRankSum=-0.143;SOR=0.872	GT:AD:DP:GQ:PL	0/1:54,32:86:99:658,0,1263	6	0	1	0
chr12	11353720	11353720	-	TGTTGCCTCCTTGTTGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGGGGACCTTGGGGCTGGTTACCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATCGGGGACTTTGGGACTTGTCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCCTGAGGTT	exonic	PRB1	.	nonframeshift insertion	PRB1:NM_001367912:exon5:c.1368_1369insAACCTCAGGGTCCCCCACCTCCAGGAAAGCCACAAGGACCACCCCCACAAGGAGACAAGTCCCAAAGTCCCCGATCTCCTCCAGGAAAGCCACAAGGACCACCCCCACAAGGAGGTAACCAGCCCCAAGGTCCCCCACCTCCTCCAGGAAAGCCACAAGGACCACCCCAACAAGGAGGCAACA:p.D457delinsNLRVPHLQESHKDHPHKETSPKVPDLLQESHKDHPHKEVTSPKVPHLLQESHKDHPNKEATD	.	540	935	7	29	11	76	0.0335917	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0085	0.0088	0.0081	0.0089	0.0159	0.0083	0.0083	0.0146	0.0141	0.0033	0.0083	0.0191	0.0159	0.0281	0.0146	0.0072	0.0123	0.0121	0.0005	0.0008	0.0005	0.0005	0.0004	0.0003	0.0002	0.0001	8.372e-05	0	0	0	0.0033	0	0.0067	0	0.0004	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	13735.2	137	chr12	11353720	.	C	CTGTTGCCTCCTTGTTGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGGGGACCTTGGGGCTGGTTACCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATCGGGGACTTTGGGACTTGTCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCCTGAGGTT	13735.2	.	AC=4;AF=1;AN=4;BaseQRankSum=2.45;DP=1307;ExcessHet=0;FS=1.765;MLEAC=6;MLEAF=1;MQ=47.33;MQRankSum=0.446;QD=28.79;ReadPosRankSum=-1.561;SOR=0.757	GT:AD:DP:GQ:PL	1/1:5,203:208:99:5867,585,0	0	2	0	5
chr12	14949865	14949865	C	G	exonic	ARHGDIB	.	nonsynonymous SNV	ARHGDIB:NM_001175:exon3:c.G202C:p.V68L,ARHGDIB:NM_001321421:exon3:c.G202C:p.V68L,ARHGDIB:NM_001321422:exon3:c.G202C:p.V68L,ARHGDIB:NM_001321423:exon3:c.G202C:p.V68L,ARHGDIB:NM_001321420:exon4:c.G202C:p.V68L	.	435	1052	31	4	0	39	0.0181988	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.00643697141439	0.0045	0.00179712	0.0039	0.0007	0.0017	0	0.0008	0.0057	0.0077	0.0033	0.003868	598	154602	rs41276686	0.0047	0.0047	0.0047	0.0048	0.0089	0.0046	0.0046	0.0069	0.0062	0.0009	0.0029	0.0202	2.52e-05	0.0010	0.0089	0.0049	0.0059	0.0041	0.0035	0.0035	0.0039	0.0031	0.0049	0.0032	0.0031	0.0044	0.0043	0.0009	0	0.0039	0.0173	0	0.0007	0.0068	0.0049	0.0071	0.0035	0.383	0.11085	T	0.655	0.06621	T	0.0	0.02946	B	0.007	0.12992	B	0.623315	0.10756	N	0.844183	1	0.08975	N	1.465	0.36909	L	.	.	.	-0.92	0.27669	N	0.116	0.10483	-1.0043	0.28666	T	0.085	0.33071	T	9	0.00884226	0.00200	T	0.006437	0.16956	T	0.020	0.03691	.	.	0.104622674875	0.10061	0.19116943156447241	0.19034	0.152405977807	0.17200	0.288567006588	0.08715	T	0.227527	0.59284	T	-0.505251	0.00534	T	-0.495923	0.22771	T	0.00235863157850348	0.00024	T	0.852015	0.53695	D	0.10316605	0.24383	0.06509435	0.13143	0.10316605	0.24383	0.06509435	0.13143	-7.25	0.55839	T	.	.	0.165	0.36455	B	.;.;.;.;.;.	.;.;.;.;.;.	1.067310	0.14493	11.06	0.8938090796649002	0.18748	0.08200	0.14159	N	AEFDGBCI	0.082619	0.16731	N	-0.926254409698293	0.10231	0.4879214	-0.931582882893268	0.11350	0.5777253	0.99999976364513	0.74766	0.50712	0.20391	0	0.672317	0.65289	0	0.602189	0.34648	0	0.635259	0.50027	0	.	.	5.23	1.28	0.20656	0.386000	0.20429	1.028000	0.23458	-0.177000	0.10537	0.000000	0.06391	0.951000	0.29025	0.844000	0.39860	0.0:0.2506:0.0:0.7494	8.197	0.30563	546	0.72524	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1650.49	38	chr12	14949865	.	C	G	1650.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.5;DP=325;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.79;ReadPosRankSum=0.999;SOR=0.656	GT:AD:DP:GQ:PL	0/1:64,65:129:99:1661,0,1332	6	0	1	0
chr12	30653008	30653008	A	G	exonic	IPO8	.	nonsynonymous SNV	IPO8:NM_001190995:exon14:c.T1418C:p.L473P,IPO8:NM_006390:exon18:c.T2033C:p.L678P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.892	0.137339324488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.37e-06	1.368e-06	1.363e-06	1.377e-06	1.8e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.8e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.003	0.76473	D	0.995	0.67487	D	0.866	0.61580	P	0.000029	0.55875	D	0.069638	1	0.81001	D	2.425	0.70256	M	-1.14	0.77843	T	-4.91	0.81595	D	0.956	0.96644	0.243	0.86626	D	0.577	0.84734	D	10	0.88942885	0.88281	D	0.137339	0.81983	D	0.892	0.96910	0.668	0.80602	0.933692588658	0.93300	0.9368047090768441	0.93660	1.1376852004	0.78823	0.701777100563	0.67401	T	0.570853	0.85788	D	0.403674	0.90126	D	0.342074	0.90002	D	0.997799932956696	0.92438	D	0.862314	0.57764	D	0.912197	0.92501	0.8686161	0.92770	0.912197	0.92502	0.8686161	0.92770	-13.497	0.91450	D	.	.	0.981	0.91406	P	.;.	.;.	4.810978	0.78262	26.9	0.9991862913673617	0.98586	0.98866	0.87898	D	AEFGBI	0.932254	0.92233	D	0.697791110715825	0.79487	7.088084	0.656291767271212	0.79078	7.00735	0.999998863981713	0.74766	0.732398	0.92422	0	0.709663	0.81188	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	4.82	4.82	0.61641	9.029000	0.93214	11.215000	0.89546	0.756000	0.94297	0.998000	0.41325	1.000000	0.68203	0.984000	0.60418	1.0:0.0:0.0:0.0	14.655	0.68431	964	0.07719	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	240.28	17	chr12	30653008	.	A	G	240.28	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.943;DP=134;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.24;ReadPosRankSum=-1.611;SOR=0.766	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:15,11:26:99:0|1:30653008_A_G:250,0,349:30653008	5	0	1	1
chr12	31984133	31984133	A	G	exonic	RESF1	.	nonsynonymous SNV	RESF1:NM_018169:exon4:c.A3178G:p.K1060E	.	433	1073	16	0	0	16	0.00740056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	.	0.0020	0.00299521	0.0058	0.0004	0.0010	0	0.0106	0.0040	0.0121	0.0210	0.0051164	791	154602	rs78737813	0.0041	0.0041	0.0035	0.0047	0.0212	0.0040	0.0040	0.0204	0.0201	0.0004	0.0010	0.0003	0.0002	0.0104	0.0056	0.0030	0.0039	0.0212	0.0029	0.0029	0.0024	0.0035	0.0189	0.0027	0.0026	0.0157	0.0146	0.0002	0	0.0007	0.0006	0	0.0093	0	0.0034	0.0019	0.0189	0.046	0.40573	D	0.074	0.42976	T	0.323	0.33082	B	0.073	0.28123	B	0.043789	0.23704	N	0.402050	0.995831	0.23188	N	1.75	0.45442	L	1.95	0.22474	T	-2.92	0.61129	D	0.354	0.39558	-1.0521	0.13818	T	0.040	0.17106	T	9	0.007663965	0.00174	T	.	.	.	0.026	0.05648	.	.	0.154104182512	0.14974	0.4312716726819004	0.43044	0.024555667794	0.02494	0.361968308687	0.19672	T	0.025851	0.19251	T	-0.541556	0.00328	T	-0.533765	0.18912	T	0.0211425865757909	0.00816	T	0.577942	0.20808	T	0.23973441	0.46867	0.2556322	0.51248	0.23973441	0.46867	0.2556322	0.51248	-3.872	0.21884	T	.	.	0.121	0.25265	B	.	.	3.033385	0.40645	21.2	0.99732809263607347	0.82904	0.43146	0.27034	N	AEFGBCI	0.037849	0.05269	N	-0.191140723612157	0.33502	1.901415	-0.104619187741372	0.35204	2.033924	0.999139062489065	0.38535	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.57	2.89	0.32713	1.101000	0.30650	4.663000	0.44246	0.756000	0.94297	0.992000	0.37556	1.000000	0.68203	0.957000	0.51019	0.7627:0.0:0.2373:0.0	8.287	0.31097	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005539	0.000000	0.006793	0.002924	0.000000	0.000000	0.000000	0.018939	0.07143	1391.83	41	chr12	31984133	.	A	G	1391.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.5;DP=383;ExcessHet=0;FS=0.701;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.21;ReadPosRankSum=-1.406;SOR=0.839	GT:AD:DP:GQ:PL	0/1:57,57:114:99:1402,0,1376	6	0	1	0
chr12	40483176	40483178	AAC	-	exonic	MUC19	.	unknown	UNKNOWN	.	543	923	56	0	0	56	0.0294427	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1415489964	0	4.108e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0006	0.0049	0.0006	0.0007	0.0014	0.0005	0.0005	0.0009	0.0008	0.0005	0	0.0014	0.0006	0	0.0003	0	0.0007	0.0010	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	3738.2	674	chr12	40483175	.	GAAC	G	3738.2	.	AC=2;AF=0.143;AN=14;BaseQRankSum=11.31;DP=4231;ExcessHet=0.3476;FS=5.913;MLEAC=2;MLEAF=0.143;MQ=59.55;MQRankSum=-13.76;QD=2.14;ReadPosRankSum=-8.128;SOR=1.307	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:720,66:786:99:0|1:40483128_A_G:604,0,30034:40483128	5	0	2	0
chr12	40483177	40483177	A	0	exonic	MUC19	.	.	.	.	542	838	86	0	56	142	0.0488082	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	51.83	674	chr12	40483177	.	A	*	51.83	.	AC=2;AF=0.143;AN=14;BaseQRankSum=3.66;DP=4236;ExcessHet=1.1394;FS=5.913;MLEAC=2;MLEAF=0.143;MQ=59.34;MQRankSum=-5.488;QD=0.03;ReadPosRankSum=-0.838;SOR=1.334	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:720,66:786:99:0|1:40483128_A_G:604,0,30034:40483128	5	0	2	0
chr12	40486643	40486643	-	CA	exonic	MUC19	.	unknown	UNKNOWN	.	521	915	2	0	84	86	0.0010917	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.106e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0009	0.0001	0.0002	0.0004	0.0001	9.135e-05	0.0002	9.942e-05	8.187e-05	0	0.0004	0.0004	0	0.0003	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	285.79	688	chr12	40486643	.	C	CCA	285.79	.	AC=1;AF=0.071;AN=14;BaseQRankSum=12.59;DP=6121;ExcessHet=1.1394;FS=40.612;MLEAC=1;MLEAF=0.071;MQ=57.98;MQRankSum=-24.29;QD=0.09;ReadPosRankSum=6.54;SOR=4.73	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:899,72:971:99:0|1:40486643_C_CCA:296,0,37524:40486643	6	0	1	0
chr12	40486644	40486644	-	CAGGTGTAGTGACAGGGACAACTGGCCC	exonic	MUC19	.	unknown	UNKNOWN	.	536	897	5	0	84	89	0.00277932	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.413e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0011	0.0057	0.0009	0.0014	0.0043	0.0008	0.0006	0.0017	0.0011	0.0004	0	0.0043	0.0037	0	0.0032	0	0.0014	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	282.31	691	chr12	40486644	.	T	TCAGGTGTAGTGACAGGGACAACTGGCCC	282.31	.	AC=1;AF=0.125;AN=8;BaseQRankSum=8.37;DP=6134;ExcessHet=1.1394;FS=40.612;MLEAC=1;MLEAF=0.125;MQ=57.98;MQRankSum=-24.22;QD=0.09;ReadPosRankSum=4.39;SOR=4.728	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:901,72:973:99:0|1:40486643_C_CCA:290,0,37608:40486643	3	0	1	3
chr12	40486662	40486662	-	GCT	exonic	MUC19	.	unknown	UNKNOWN	.	515	928	21	0	58	79	0.0111881	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1352773716	0	3.421e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0009	0.0001	0.0002	0.0004	0.0001	8.378e-05	0.0002	9.863e-05	5.377e-05	0	0.0004	0.0003	0	0.0003	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1106.35	670	chr12	40486662	.	G	GGCT	1106.35	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.38;DP=5846;ExcessHet=0.3476;FS=43.541;MLEAC=1;MLEAF=0.083;MQ=57.43;MQRankSum=-26.18;QD=0.69;ReadPosRankSum=-2.692;SOR=5.389	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:904,106:1010:99:0|1:40486643_C_CCA:1116,0,37064:40486643	5	0	1	1
chr12	40486663	40486663	-	CCTGGAGTGTCAGCTGGGGTGACAGGGACAATTGGATCACCAGCTGGAGTGACAGGG	exonic	MUC19	.	unknown	UNKNOWN	.	608	828	5	0	81	86	0.00301023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	5.282e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0011	0.0057	0.0008	0.0014	0.0042	0.0007	0.0006	0.0017	0.0011	0.0002	0	0.0042	0.0038	0	0.0031	0	0.0015	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1004.27	670	chr12	40486663	.	A	ACCTGGAGTGTCAGCTGGGGTGACAGGGACAATTGGATCACCAGCTGGAGTGACAGGG	1004.27	.	AC=1;AF=0.167;AN=6;BaseQRankSum=5;DP=5841;ExcessHet=0.3476;FS=43.244;MLEAC=1;MLEAF=0.167;MQ=57.49;MQRankSum=-25.9;QD=0.63;ReadPosRankSum=-10.56;SOR=5.337	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:896,103:999:99:0|1:40486643_C_CCA:1011,0,36741:40486643	2	0	1	4
chr12	40487442	40487442	-	GCT	exonic	MUC19	.	unknown	UNKNOWN	.	529	895	98	0	0	98	0.0519068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1210301375	1.2e-06	8.209e-06	2.23e-06	0	0.0009	0	0	.	.	0	0.0009	0	0	0	0	0	0	0	0.0006	0.0058	0.0005	0.0008	0.0009	0.0005	0.0005	0.0005	0.0005	0.0004	0	0.0009	0	0.0006	0.0011	0	0.0007	0.0010	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	338.29	732	chr12	40487442	.	G	GGCT	338.29	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-4.655;DP=5997;ExcessHet=0.3476;FS=6;MLEAC=2;MLEAF=0.143;MQ=56.85;MQRankSum=-25.75;QD=0.18;ReadPosRankSum=1.29;SOR=1.747	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:834,61:895:11:0|1:40487442_G_GGCT:11,0,34318:40487442	5	0	2	0
chr12	40487443	40487443	-	CCTGGAGTGTCAGCTGGGGTGACAGGGACAATTGGATCACCAGCTGGAGTGACAGGG	exonic	MUC19	.	unknown	UNKNOWN	.	536	681	142	0	163	305	0.0944149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.209e-06	8.913e-06	2.247e-06	0	0.0010	0	0	.	.	0	0.0010	0	0	0	0	0	0	0	0.0009	0.0080	0.0007	0.0011	0.0013	0.0007	0.0007	0.0007	0.0007	0.0006	0	0.0013	0	0.0009	0.0016	0	0.0010	0.0013	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	12379.8	639	chr12	40487443	.	A	ACCTGGAGTGTCAGCTGGGGTGACAGGGACAATTGGATCACCAGCTGGAGTGACAGGG	12379.8	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-4.59;DP=6110;ExcessHet=4.7409;FS=5.959;MLEAC=4;MLEAF=0.333;MQ=56.39;MQRankSum=-20.6;QD=3.45;ReadPosRankSum=-1.927;SOR=1.634	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:828,61:953:27:0|1:40487442_G_GGCT:27,0,34068:40487442	3	0	3	1
chr12	40490465	40490465	G	C	exonic	MUC19	.	unknown	UNKNOWN	.	544	977	1	0	0	1	0.000511509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs1033438175	0.0001	8.966e-05	0.0001	0.0002	0.0030	0.0001	0.0001	0.0012	0.0010	0	0.0030	0.0004	0	0	0	8.801e-05	0.0005	0.0016	0.0002	0.0002	0.0001	0.0003	0.0017	0.0002	0.0001	0.0008	0.0006	7.218e-05	0	0.0006	0.0006	0	0	0	0.0001	0.0005	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	.	.	.	.	.	.	.	.	0.07143	9464.44	356	chr12	40490465	.	G	C	9464.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.4;DP=2960;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=1.04;QD=12.64;ReadPosRankSum=1.09;SOR=0.702	GT:AD:DP:GQ:PL	0/1:362,387:749:99:9475,0,8895	6	0	1	0
chr12	40509053	40509053	T	A	exonic	MUC19	.	unknown	UNKNOWN	.	561	887	71	3	0	77	0.0415991	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796340531	3.486e-05	0.0002	3.413e-05	3.563e-05	.	5.78e-06	2.16e-06	.	.	0	0	0	0	0.0004	0	0	0	0	5.923e-05	0.0006	5.149e-05	6.731e-05	0.0002	3.081e-05	2.213e-05	6.279e-05	4.297e-05	0.0001	0	0.0002	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	287.97	115	chr12	40509053	.	T	A	287.97	.	AC=2;AF=0.333;AN=6;BaseQRankSum=0.24;DP=862;ExcessHet=0.3476;FS=1.595;MLEAC=3;MLEAF=0.5;MQ=59.37;MQRankSum=-11.1;QD=0.92;ReadPosRankSum=3.79;SOR=0.767	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:125,12:137:99:0|1:40509053_T_A:128,0,5207:40509053	1	0	2	4
chr12	40509056	40509056	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	559	887	73	3	0	79	0.0426336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1305621476	1.742e-05	0.0002	0	3.572e-05	.	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.0005	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	284.97	110	chr12	40509056	.	G	A	284.97	.	AC=2;AF=0.333;AN=6;BaseQRankSum=0.757;DP=859;ExcessHet=0.3476;FS=1.594;MLEAC=3;MLEAF=0.5;MQ=59.36;MQRankSum=-11.14;QD=0.9;ReadPosRankSum=3.92;SOR=0.772	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:126,12:138:99:0|1:40509053_T_A:125,0,5255:40509053	1	0	2	4
chr12	40509061	40509061	G	C	exonic	MUC19	.	unknown	UNKNOWN	.	557	891	71	3	0	77	0.0414201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1348486958	3.908e-05	0.0002	3.806e-05	4.015e-05	2.421e-05	6.48e-06	2.42e-06	.	.	0	0	0	0	0.0002	0	2.421e-05	0	0	9.211e-05	0.0006	9.011e-05	9.421e-05	0.0003	5.535e-05	4.37e-05	0.0001	0.0001	0.0003	0	0.0002	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	247.97	115	chr12	40509061	.	G	C	247.97	.	AC=2;AF=0.333;AN=6;BaseQRankSum=0.556;DP=869;ExcessHet=0.3476;FS=2.586;MLEAC=3;MLEAF=0.5;MQ=59.43;MQRankSum=-11.27;QD=0.78;ReadPosRankSum=3.84;SOR=0.891	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:129,12:141:99:0|1:40509053_T_A:116,0,5340:40509053	1	0	2	4
chr12	40509062	40509062	A	C	exonic	MUC19	.	unknown	UNKNOWN	.	557	890	72	3	0	78	0.0419806	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1239171133	3.865e-05	0.0002	3.759e-05	3.976e-05	2.401e-05	6.41e-06	2.4e-06	.	.	0	0	0	0	0.0002	0	2.401e-05	0	0	0	0.0004	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	250.97	115	chr12	40509062	.	A	C	250.97	.	AC=2;AF=0.333;AN=6;BaseQRankSum=1.25;DP=869;ExcessHet=0.3476;FS=2.595;MLEAC=3;MLEAF=0.5;MQ=59.43;MQRankSum=-11.27;QD=0.79;ReadPosRankSum=3.83;SOR=0.885	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:129,12:141:99:0|1:40509053_T_A:116,0,5340:40509053	1	0	2	4
chr12	40509076	40509076	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	553	907	60	2	0	64	0.0340788	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796925819	3.366e-05	0.0002	6.615e-05	0	5.131e-05	0	0	.	.	0	0	0	0	0	0	5.131e-05	0	0	6.575e-06	0.0004	0	1.345e-05	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	103.97	118	chr12	40509076	.	G	A	103.97	.	AC=2;AF=0.333;AN=6;BaseQRankSum=1.09;DP=885;ExcessHet=0.3476;FS=1.649;MLEAC=3;MLEAF=0.5;MQ=59.49;MQRankSum=-11.5;QD=0.31;ReadPosRankSum=3.12;SOR=0.918	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:137,11:148:39:0|1:40509076_G_A:39,0,5664:40509076	1	0	2	4
chr12	40509081	40509081	T	C	exonic	MUC19	.	unknown	UNKNOWN	.	552	908	60	2	0	64	0.0340426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796068417	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	9.204e-05	0.0005	0.0001	8.068e-05	0.0003	5.531e-05	4.367e-05	0.0001	0.0001	0.0003	0	0.0002	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	106.97	119	chr12	40509081	.	T	C	106.97	.	AC=2;AF=0.333;AN=6;BaseQRankSum=1.62;DP=892;ExcessHet=0.3476;FS=1.647;MLEAC=3;MLEAF=0.5;MQ=59.49;MQRankSum=-11.46;QD=0.32;ReadPosRankSum=2.48;SOR=0.91	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:136,11:147:42:0|1:40509076_G_A:42,0,5607:40509076	1	0	2	4
chr12	52692555	52692555	-	CAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGGACCCAGGAGGCGG	exonic	KRT77	.	stopgain	KRT77:NM_175078:exon7:c.1292_1293insCCGCCTCCTGGGTCCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTG:p.E432Rfs*14	.	27	1483	5	0	7	12	0.00168294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0015	0.0004	0.0003	0	0.0018	0.0022	0	0.0005	3.84e-05	1	26028	rs778135740	1.444e-05	6.721e-05	1.506e-05	1.383e-05	9.955e-06	9.28e-06	7.88e-06	5.34e-06	3.9e-06	0	0	7.684e-05	0	0.0001	0	9.955e-06	1.664e-05	0	0.0002	0.0002	0.0001	0.0002	0.0002	0.0001	8.77e-05	6.958e-05	5.127e-05	9.664e-05	0	0.0002	0	0	0.0002	0	0.0001	0.0019	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	307.4	35	chr12	52692555	.	C	CCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGGACCCAGGAGGCGG	307.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.38;DP=297;ExcessHet=0;FS=1.075;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=3.01;ReadPosRankSum=-2.553;SOR=0.869	GT:AD:DP:GQ:PL	0/1:88,14:102:99:318,0,3658	6	0	1	0
chr12	53060967	53060967	C	G	exonic	TNS2	.	nonsynonymous SNV	TNS2:NM_015319:exon20:c.C3091G:p.R1031G,TNS2:NM_170754:exon20:c.C3061G:p.R1021G,TNS2:NM_198316:exon20:c.C2689G:p.R897G	.	405	1116	1	0	0	1	0.000447828	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.298	0.0440790079233	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.871e-07	6.84e-07	0	1.382e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.439	0.14771	T	0.144	0.32550	B	0.063	0.27082	B	0.416931	0.12921	N	0.709097	0.738366	0.29760	N	.	.	.	-3.38	0.94210	D	-0.46	0.23372	N	0.341	0.46086	-0.0908	0.80310	T	0.592	0.85412	D	10	0.17062095	0.31735	T	0.044079	0.61307	D	0.298	0.61843	0.278	0.23164	0.352476196916	0.34857	0.4555659946117247	0.45474	0.567544485332	0.53011	0.588386416435	0.51267	T	0.178971	0.52981	T	0.124424	0.66814	D	-0.0590506	0.66398	T	0.631438910961151	0.37678	D	0.890411	0.62412	D	0.232414	0.46029	0.14774837	0.34952	0.232414	0.46029	0.14774837	0.34951	-3.15	0.12615	T	.	.	0.094	0.23570	B	.;.;.;.;.;.	.;.;.;.;.;.	3.109046	0.41930	21.4	0.96147020302193054	0.28853	0.22181	0.21659	N	AEFDGBCI	0.259896	0.37815	N	-0.384876193267311	0.26008	1.416118	-0.259950869128447	0.29431	1.648752	0.999999999999946	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.696353	0.63694	0	0.735409	0.98432	0	.	.	4.55	4.55	0.55429	2.173000	0.42099	4.824000	0.45142	0.599000	0.40250	0.983000	0.35670	1.000000	0.68203	0.950000	0.49671	0.0:1.0:0.0:0.0	13.016	0.58166	760	0.50470	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	637.83	38	chr12	53060967	.	C	G	637.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.97;DP=236;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.39;ReadPosRankSum=3.22;SOR=0.591	GT:AD:DP:GQ:PL	0/1:31,25:56:99:648,0,698	6	0	1	0
chr12	54002666	54002666	C	T	exonic	HOXC9	.	stopgain	HOXC9:NM_006897:exon2:c.C775T:p.Q259X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1338293622	4.79e-06	4.788e-06	2.723e-06	6.879e-06	0.0007	1.99e-06	1.28e-06	0.0002	0.0001	0	0	0	0	0	0.0007	0	1.657e-05	2.319e-05	6.572e-06	6.567e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	0.000138	0.49741	D	0.080637	0.95715	0.38010	D	.	.	.	.	.	.	.	.	.	0.619	0.64478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.514725	0.94726	D	0.60222	0.97155	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive	High;High	9.079834	0.98435	39	0.99549604912012335	0.71023	0.88035	0.47790	D	AEFDGBI	0.072388	0.14445	N	0.890367094651339	0.91280	10.80417	0.710252169007441	0.83157	7.948622	0.999999993610533	0.74766	0.609539	0.35627	0	0.563428	0.19063	0	0.596491	0.31596	0	0.63947	0.58350	0	.	.	4.13	4.13	0.47661	2.686000	0.46634	7.598000	0.61467	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	14.283	0.65775	204	0.92044	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.1667	508.92	27	chr12	54002666	.	C	T	508.92	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.641;DP=161;ExcessHet=0.4139;FS=4.267;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=10.18;ReadPosRankSum=0.612;SOR=1.493	GT:AD:DP:GQ:PL	0/1:13,17:30:99:443,0,348	4	0	2	1
chr12	55469328	55469328	C	A	exonic	OR6C70	.	stopgain	OR6C70:NM_001005499:exon1:c.G811T:p.G271X	.	430	1079	13	0	0	13	0.00598802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0015	0.00119808	0.0031	0.0002	0.0022	0	0.0011	0.0020	0.0066	0.0120	0.0027361	423	154602	rs111636907	0.0023	0.0023	0.0021	0.0026	0.0122	0.0023	0.0022	0.0116	0.0113	0.0003	0.0013	0.0069	0	0.0005	0.0033	0.0017	0.0026	0.0122	0.0014	0.0014	0.0012	0.0016	0.0124	0.0013	0.0012	0.0099	0.0090	0.0003	0	0.0006	0.0058	0	0.0005	0.0068	0.0016	0.0005	0.0124	.	.	.	.	.	.	.	.	.	.	.	.	0.003541	0.34793	N	0.127801	0.997525	0.43960	D	.	.	.	.	.	.	.	.	.	0.013	0.00142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0231988	0.54813	T	0.270935	0.86623	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	6.281190	0.94937	34	0.9754281329315353	0.34523	0.04622	0.10284	N	AEFI	0.047004	0.07869	N	0.425766935029231	0.62843	4.50711	0.110998621627395	0.45109	2.780079	0.00908857150433996	0.11793	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.12	3.2	0.35826	-0.528000	0.06280	.	.	0.565000	0.28586	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1644:0.5868:0.1595:0.0893	4.200	0.09919	771	0.49057	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006042	0.000000	0.002717	0.002924	0.050000	0.000000	0.015244	0.015152	0.07143	1158.63	35	chr12	55469328	.	C	A	1158.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.37;DP=285;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.63;ReadPosRankSum=-1.124;SOR=0.763	GT:AD:DP:GQ:PL	0/1:60,49:109:99:1169,0,1461	6	0	1	0
chr12	56433425	56433425	C	A	exonic	TIMELESS	.	nonsynonymous SNV	TIMELESS:NM_001330295:exon5:c.G385T:p.A129S,TIMELESS:NM_003920:exon5:c.G385T:p.A129S	.	430	1051	41	0	0	41	0.0191321	.	.	.	738762	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.032	.	0.0046	0.00638978	0.0079	0.0009	0.0024	0	0.0086	0.0065	0.0066	0.0255	0.0075937	1174	154602	rs72478986	0.0069	0.0069	0.0061	0.0076	0.0258	0.0068	0.0067	0.0249	0.0245	0.0005	0.0034	0.0054	2.519e-05	0.0086	0.0154	0.0059	0.0065	0.0258	0.0057	0.0057	0.0054	0.0059	0.0241	0.0053	0.0052	0.0205	0.0192	0.0011	0.0187	0.0051	0.0058	0.0004	0.0085	0.0102	0.0070	0.0076	0.0241	0.072	0.35165	T	0.04	0.50809	D	0.229	0.30546	B	0.174	0.35540	B	0.012069	0.29301	N	0.349556	0.854854	0.28443	N	1.15	0.29295	L	0.91	0.44856	T	-1.17	0.29933	N	0.395	0.43610	-1.0154	0.25207	T	0.101	0.37518	T	10	0.005491823	0.00121	T	.	.	.	0.032	0.07718	.	.	0.323342291347	0.31936	0.1607800497811879	0.15999	0.171209344156	0.19289	0.346322804689	0.17378	T	0.102101	0.40949	T	-0.544533	0.00315	T	-0.535363	0.18754	T	0.0170223713933494	0.00451	T	0.873013	0.58094	D	0.0435973	0.06821	0.05841588	0.10790	0.0435973	0.06821	0.05841588	0.10790	-3.821	0.21119	T	.	.	0.111	0.21466	B	.;.	.;.	2.246897	0.28697	17.88	0.98645243699174356	0.44110	0.97081	0.72578	D	AEFBI	0.257301	0.37605	N	-0.411462268572135	0.25066	1.358009	-0.299378036005498	0.28119	1.56532	0.0742263954363048	0.15659	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.42	0.088	0.13762	0.926000	0.28405	0.126000	0.14982	0.599000	0.40250	0.562000	0.27441	0.685000	0.26142	0.998000	0.85391	0.0:0.3314:0.3729:0.2956	5.881	0.18101	147	0.94143	Timeless 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	1	0	0.010070	0.000000	0.005435	0.002924	0.000000	0.000000	0.018293	0.034091	0.07143	695.53	38	chr12	56433425	.	C	A	695.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.117;DP=249;ExcessHet=0;FS=3.155;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.53;ReadPosRankSum=0.151;SOR=1.083	GT:AD:DP:GQ:PL	0/1:43,30:73:99:706,0,1088	6	0	1	0
chr12	71524453	71524453	C	T	exonic	LGR5	.	nonsynonymous SNV	LGR5:NM_001277226:exon3:c.C332T:p.T111I,LGR5:NM_001277227:exon3:c.C332T:p.T111I,LGR5:NM_003667:exon3:c.C332T:p.T111I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	0.00808536765441	.	.	.	.	.	.	.	.	.	.	.	.	.	rs868185196	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.56456	D	0.022	0.60972	D	0.076	0.24253	B	0.063	0.27082	B	0.009478	0.30346	N	0.283140	0.926946	0.36850	D	0.62	0.15745	N	0.38	0.57575	T	-2.14	0.50992	N	0.385	0.44761	-0.9647	0.38270	T	0.116	0.41097	T	10	0.37278187	0.53603	T	0.008085	0.21418	T	0.172	0.43662	0.486	0.56939	0.727588342688	0.72517	0.3197490432780372	0.31887	0.101533718164	0.11486	0.509254097939	0.40118	T	0.137354	0.47024	T	-0.0216039	0.48624	T	-0.268809	0.47941	T	0.915795087814331	0.57297	D	0.424358	0.11970	T	0.15238595	0.34594	0.16741996	0.38624	0.15238595	0.34594	0.16741996	0.38624	-5.092	0.37823	T	.	.	0.121	0.36033	B	.;.;.	.;.;.	3.162562	0.42853	21.6	0.99798861509381587	0.88372	0.96072	0.67405	D	AEFDBI	0.849478	0.76630	D	-0.059293809433951	0.39187	2.306999	0.127556861968869	0.45963	2.850362	0.999973993674353	0.50053	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.41	5.41	0.78313	6.024000	0.70506	3.963000	0.40764	0.599000	0.40250	1.000000	0.71638	0.253000	0.23932	0.851000	0.40252	0.0:1.0:0.0:0.0	19.544	0.95277	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	.	.	.	.	.	.	.	.	0.07143	741.44	33	chr12	71524453	.	C	T	741.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.813;DP=277;ExcessHet=0;FS=0.783;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.06;ReadPosRankSum=1.39;SOR=0.798	GT:AD:DP:GQ:PL	0/1:54,38:92:99:752,0,1240	6	0	1	0
chr12	76059802	76059802	A	G	exonic	NAP1L1	.	nonsynonymous SNV	NAP1L1:NM_001330232:exon4:c.T236C:p.I79T,NAP1L1:NM_001307924:exon6:c.T425C:p.I142T,NAP1L1:NM_001330231:exon6:c.T425C:p.I142T,NAP1L1:NM_004537:exon6:c.T425C:p.I142T,NAP1L1:NM_139207:exon6:c.T425C:p.I142T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	0.0140890462673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.298e-05	0.0001	1.007e-05	1.59e-05	3.167e-05	8.11e-06	6.69e-06	6.9e-06	5.32e-06	3.167e-05	0	0	0	0	0	1.237e-05	3.459e-05	2.454e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	0.58626	T	0.515	0.10643	T	0.741	0.42992	P	0.232	0.40572	B	0.000212	0.47681	D	0.219991	0.940363	0.81001	D	1.35	0.33515	L	1.0	0.41392	T	-1.96	0.50666	N	0.224	0.26111	-1.0717	0.09043	T	0.067	0.27708	T	10	0.21725681	0.38332	T	0.014089	0.33970	T	0.154	0.40340	0.451	0.51285	0.265735104816	0.26182	0.28783724609276506	0.28696	0.828852337507	0.67540	0.57043671608	0.48739	T	0.091695	0.38850	T	-0.0750447	0.40518	T	-0.345573	0.39712	T	0.783953189849854	0.45299	D	0.659534	0.37862	T	0.10568608	0.24989	0.1311999	0.31509	0.10568608	0.24989	0.1311999	0.31508	-8.678	0.65603	D	.	.	0.270	0.65692	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.388031	0.67691	25.1	0.9712404844935334	0.32469	0.99811	0.99622	D	AEFBI	0.923144	0.89919	D	0.0872240292922002	0.45869	2.836197	0.26620784129639	0.53577	3.525932	0.999999917027058	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.49	5.49	0.81022	9.263000	0.94779	11.266000	0.91241	0.733000	0.85838	1.000000	0.71638	1.000000	0.68203	0.972000	0.54974	0.8656:0.1344:0.0:0.0	12.985	0.57988	934	0.15400	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	244.53	35	chr12	76059802	.	A	G	244.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.081;DP=248;ExcessHet=0;FS=104.219;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=3.6;ReadPosRankSum=0.206;SOR=6.089	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:48,20:68:99:0|1:76059802_A_G:255,0,1142:76059802	6	0	1	0
chr12	82399261	82399261	A	G	exonic	METTL25	.	nonsynonymous SNV	METTL25:NM_001319675:exon4:c.A737G:p.N246S,METTL25:NM_032230:exon4:c.A998G:p.N333S,METTL25:NM_001347934:exon5:c.A842G:p.N281S	.	444	1076	2	0	0	2	0.000928505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.00659430235805	.	.	5.791e-05	0	0	0	0	0.0001	0	0	4.53e-05	7	154602	rs756275185	6.569e-05	6.567e-05	6.808e-05	6.327e-05	0.0050	5.496e-05	5.108e-05	0.0036	0.0031	0	6.712e-05	0.0008	2.526e-05	0	0.0050	2.249e-05	0.0003	1.16e-05	2.626e-05	2.625e-05	2.57e-05	2.686e-05	2.405e-05	8.14e-06	5.14e-06	.	.	2.405e-05	0	0	0.0003	0	0	0.0068	0	0	0	0.845	0.02774	T	0.606	0.07791	T	0.002	0.09854	B	0.007	0.12992	B	0.334711	0.14057	N	0.745147	1	0.08975	N	0.49	0.13296	N	1.61	0.28391	T	-0.2	0.10136	N	0.032	0.00825	-0.9842	0.34022	T	0.036	0.15378	T	10	0.03261143	0.01416	T	0.006594	0.17386	T	0.004	0.00165	0.192	0.10304	0.0401082797425	0.02173	0.19233553522075644	0.19151	0.016213409697	0.01556	0.210784077644	0.00845	T	0.001403	0.00865	T	-0.497732	0.00589	T	-0.755763	0.03267	T	0.014251233297508	0.00282	T	0.555444	0.19245	T	0.019747352	0.00512	0.018491797	0.00057	0.019747352	0.00512	0.018491797	0.00057	-2.663	0.06998	T	.	.	0.062	0.01271	B	.	.	-0.409761	0.02176	0.214	0.36018325929729655	0.02293	0.10490	0.15983	N	AEFBCI	0.052655	0.09418	N	-1.29823263890111	0.03697	0.1656253	-1.28812215849452	0.04591	0.2168773	6.21131982046215E-5	0.04366	0.638212	0.43195	0	0.670034	0.63936	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.27	0.119	0.13989	0.008000	0.13095	0.218000	0.16040	-0.712000	0.03928	0.000000	0.06391	0.000000	0.08366	0.062000	0.16114	0.5687:0.0:0.3112:0.1202	5.737	0.17339	920	0.19381	Methyltransferase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002016	0.000000	0.002717	0.008772	0.000000	0.000000	0.000000	0.000000	0.07143	968.53	35	chr12	82399261	.	A	G	968.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.232;DP=255;ExcessHet=0;FS=2.074;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.84;ReadPosRankSum=0.463;SOR=1.085	GT:AD:DP:GQ:PL	0/1:30,40:70:99:979,0,678	6	0	1	0
chr12	100623913	100623913	C	T	exonic	GAS2L3	.	nonsynonymous SNV	GAS2L3:NM_001303130:exon9:c.C1108T:p.R370C,GAS2L3:NM_001303131:exon10:c.C796T:p.R266C,GAS2L3:NM_001363672:exon10:c.C1108T:p.R370C,GAS2L3:NM_174942:exon10:c.C1108T:p.R370C	.	426	1094	2	0	0	2	0.000913242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.0193300392072	.	.	1.649e-05	0	0.0002	0	0	0	0	0	1.29e-05	2	154602	rs752944938	1.026e-05	1.026e-05	1.089e-05	9.626e-06	4.472e-05	6.16e-06	4.89e-06	7.41e-06	3.32e-06	0	4.472e-05	0	0	0	0	8.993e-06	3.311e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.41096	D	0.008	0.72224	D	0.993	0.65571	D	0.541	0.48869	P	0.074959	0.21253	N	0.444032	0.999999	0.18612	N	2.215	0.62545	M	1.72	0.26588	T	-2.68	0.60982	D	0.178	0.21580	-1.0533	0.13493	T	0.071	0.28904	T	10	0.16103396	0.30216	T	0.01933	0.41663	T	0.078	0.22779	0.401	0.43081	0.614536914106	0.61142	0.22230770974394057	0.22145	0.111227701114	0.12544	0.239456832409	0.02742	T	0.027809	0.29440	T	-0.256415	0.13323	T	-0.509245	0.21392	T	0.797606110572815	0.46191	D	0.694731	0.30434	T	0.070760354	0.15614	0.04799452	0.07034	0.070760354	0.15614	0.04799452	0.07033	-4.839	0.35042	T	.	.	0.091	0.13268	B	.;.;.;.	.;.;.;.	1.899162	0.24122	16.28	0.9880960831162241	0.46590	0.12420	0.17258	N	AEFBI	0.153811	0.27873	N	-0.345511143545329	0.27437	1.505354	-0.486608055723569	0.22521	1.223681	0.00299342495437367	0.09855	0.706548	0.73137	0	0.593476	0.48661	0	0.653264	0.51672	0	0.714379	0.83352	0	.	.	5.13	4.24	0.49486	1.020000	0.29629	0.534000	0.19274	-0.171000	0.11205	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1547:0.7658:0.0:0.0795	9.02	0.35355	590	0.68897	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	5392.22	74	chr12	100623913	.	C	T	5392.22	.	AC=2;AF=0.143;AN=14;DP=592;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=30.99;SOR=0.788	GT:AD:DP:GQ:PL	1/1:0,174:174:99:5413,521,0	6	1	0	0
chr12	101753376	101753376	C	T	exonic	GNPTAB	.	nonsynonymous SNV	GNPTAB:NM_024312:exon19:c.G3598A:p.E1200K	Mucolipidosis II alpha/beta, Autosomal recessive;Mucolipidosis III alpha/beta, Autosomal recessive	0	1456	64	2	0	68	0.0228188	.	.	YES	78998	not_specified|not_provided|Mucolipidosis_type_II|Pseudo-Hurler_polydystrophy	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009650,MedGen:C2673377,OMIM:252500,Orphanet:576|MONDO:MONDO:0018931,MedGen:C0033788,OMIM:252600,Orphanet:423461,Orphanet:577	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.805	.	0.0005	0.00499201	0.0036	0	0.0011	0	0	0.0008	0.0055	0.0218	0.0030724	475	154602	rs137853825	0.0017	0.0017	0.0010	0.0023	0.0205	0.0016	0.0016	0.0197	0.0194	5.979e-05	0.0007	0.0010	0.0001	0	0.0092	0.0004	0.0018	0.0205	0.0010	0.0010	0.0007	0.0013	0.0180	0.0009	0.0008	0.0150	0.0138	9.623e-05	0	0.0008	0.0009	0	0	0	0.0007	0.0009	0.0180	0.027	0.46513	D	0.033	0.53072	D	0.819	0.45682	P	0.334	0.42203	B	0.000000	0.84330	D	0.050530	0.999999	0.58761	D	1.845	0.48678	L	-1.61	0.82254	D	-2.53	0.54864	D	0.786	0.78262	-0.0193	0.81853	T	0.485	0.80360	T	10	0.012164891	0.00262	T	.	.	.	0.805	0.93660	.	.	0.870031030802	0.86877	0.8155700713887672	0.81513	0.69644798922	0.60850	0.823489546776	0.85563	D	0.351569	0.71912	T	0.051382	0.58522	T	0.31795	0.89004	D	0.0724241623569362	0.08987	T	0.967703	0.88280	D	0.46982327	0.65279	0.314839	0.57473	0.4536473	0.64273	0.30533698	0.56560	-10.697	0.77970	D	0.7684051407325552	0.84961	0.378	0.58292	A	.	.	4.127183	0.61730	24.4	0.99816031481847278	0.89973	0.97083	0.72590	D	AEFBI	0.794909	0.72248	D	0.439006028940395	0.63583	4.594733	0.485958886029561	0.67058	5.033571	0.991746587260844	0.32594	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.69	4.8	0.61157	7.565000	0.81337	7.588000	0.61163	0.541000	0.25215	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	0.0:0.9303:0.0:0.0697	14.759	0.69210	470	0.78111	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.006546	0.000000	0.004076	0.011696	0.000000	0.000000	0.000000	0.026515	0.1429	1976.27	34	chr12	101753376	.	C	T	1976.27	.	AC=2;AF=0.143;AN=14;DP=258;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=30.4;SOR=1.758	GT:AD:DP:GQ:PL	1/1:0,65:65:99:1997,195,0	6	1	0	0
chr12	103706793	103706793	C	T	exonic	STAB2	.	nonsynonymous SNV	STAB2:NM_017564:exon38:c.C3998T:p.T1333M	.	.	.	.	.	.	.	.	0.0001	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.015985346587	7.7e-05	0.000199681	0.0002	0.0002	0.0002	0	0.0002	0.0001	0	0.0003	0.0001488	23	154602	rs151019558	7.867e-05	8.003e-05	6.67e-05	9.075e-05	0.0003	6.666e-05	6.201e-05	0.0002	0.0002	0.0002	4.472e-05	0	2.519e-05	1.872e-05	0.0003	5.845e-05	0.0001	0.0003	0.0001	0.0002	0.0002	0.0001	0.0002	9.734e-05	8.25e-05	0.0001	9.897e-05	0.0002	0	6.533e-05	0	0	0	0	0.0002	0	0	0.085	0.32769	T	0.002	0.79402	D	0.959	0.55135	D	0.307	0.41295	B	0.000222	0.47286	D	0.187358	0.979884	0.25151	N	2.36	0.67893	M	4.01	0.03208	T	-2.11	0.48020	N	0.18	0.19459	-0.9975	0.30618	T	0.014	0.05561	T	10	0.15544361	0.29297	T	0.015985	0.37021	T	0.065	0.18881	.	.	0.546393912413	0.54293	0.4320883638807469	0.43125	0.147127309729	0.16595	0.357841640711	0.19071	T	0.18681	0.54022	T	-0.481828	0.00721	T	-0.61937	0.11234	T	0.0829318091273308	0.10358	T	0.710029	0.32075	T	0.03623698	0.04418	0.07082028	0.15094	0.03623698	0.04418	0.07082028	0.15093	-6.344	0.49071	T	.	.	0.106	0.19679	B	.	.	1.304458	0.17066	12.94	0.93773942442712377	0.23728	0.20382	0.21020	N	AEFDBI	0.228952	0.35255	N	-0.308243018717389	0.28835	1.593761	-0.396271931100081	0.25108	1.378836	4.50152031585922E-4	0.07004	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.69	3.69	0.41483	0.322000	0.19323	1.086000	0.23936	-0.172000	0.11096	0.031000	0.20493	0.507000	0.25236	0.304000	0.24594	0.1208:0.7379:0.0:0.1413	8.659	0.33241	865	0.32612	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	1405.49	34	chr12	103706793	.	C	T	1405.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.4;DP=290;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=0.431;SOR=0.65	GT:AD:DP:GQ:PL	0/1:56,57:113:99:1416,0,1310	6	0	1	0
chr12	111702254	111702254	G	C	exonic	ACAD10	.	nonsynonymous SNV	ACAD10:NM_001136538:exon3:c.G280C:p.A94P,ACAD10:NM_025247:exon3:c.G280C:p.A94P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.254	0.0373141519834	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0024	0.0002	0.0002	0.0004	0.0002	0.0002	0.0002	0.0002	0.0002	2.24e-05	7.732e-05	0	0	0.0004	0.0002	0.0001	5.847e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.72154	D	0.029	0.79402	D	0.963	0.55692	D	0.602	0.50862	P	0.007397	0.31425	N	0.222822	1	0.81001	D	0.695	0.17993	N	2.95	0.09635	T	-2.42	0.53096	N	0.442	0.60410	-1.1983	0.00163	T	0.042	0.18202	T	10	0.47138333	0.59883	T	0.037314	0.57541	D	0.254	0.56428	0.727	0.86111	0.530852358449	0.52733	0.7634971630154191	0.76297	0.607455808728	0.55555	0.344899773598	0.17168	T	0.271746	0.64409	T	-0.108354	0.35039	T	-0.393419	0.34152	T	0.738627551699252	0.42663	D	0.732227	0.45757	T	0.33670285	0.56016	0.38002715	0.63044	0.33670285	0.56016	0.38002715	0.63044	-10.061	0.74276	D	.	.	0.844	0.79432	P	.;.;.;.	.;.;.;.	4.899048	0.80508	27.3	0.99731050189706616	0.82761	0.97118	0.72795	D	AEFBI	0.814060	0.73638	D	0.420087935551001	0.62526	4.470066	0.4971641940229	0.67801	5.133027	0.993659247621036	0.33302	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.62	5.62	0.85714	6.689000	0.74392	9.809000	0.81737	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.933000	0.47100	0.0:0.0:1.0:0.0	18.426	0.90554	533	0.73433	.;Predicted HAD-superfamily phosphatase, subfamily IA/Epoxide hydrolase, N-terminal;.;Predicted HAD-superfamily phosphatase, subfamily IA/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	.	.	.	.	.	.	.	.	0.08333	39.68	21	chr12	111702254	.	G	C	39.68	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.547;DP=201;ExcessHet=0;FS=110.967;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=1.24;ReadPosRankSum=0.245;SOR=6.516	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:22,10:32:49:0|1:111702252_G_A:49,0,282:111702252	5	0	1	1
chr12	128810040	128810040	C	T	exonic	SLC15A4	.	nonsynonymous SNV	SLC15A4:NM_145648:exon3:c.G914A:p.G305E	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.431	0.066313857068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	0.0002	2.3e-07	9e-08	.	.	2.987e-05	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.575	0.75298	M	3.6	0.04494	T	-6.49	0.91564	D	0.828	0.82358	-0.6553	0.62482	T	0.280	0.65189	T	10	0.90304184	0.89667	D	0.066314	0.69838	D	0.431	0.73735	0.733	0.86633	0.51721326083	0.51363	0.8298247170403579	0.82940	1.56346223349	0.88073	0.57704102993	0.49669	T	0.212756	0.57389	T	0.225008	0.76249	D	0.0854323	0.75940	D	0.995441436767578	0.87437	D	0.880212	0.59782	D	0.9425532	0.95508	0.95511883	0.98700	0.9425532	0.95508	0.95511883	0.98700	-12.426	0.86865	D	.	.	0.926	0.84705	P	.	.	5.157288	0.86402	28.9	0.99778509218951772	0.86519	0.96670	0.70316	D	AEFGBCI	0.834921	0.75290	D	0.618113023109215	0.74320	6.11274	0.614883770884605	0.76020	6.414753	0.999999999999999	0.74766	0.732398	0.92422	0	0.672317	0.65289	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.26	5.26	0.73479	6.968000	0.75873	4.741000	0.44606	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:1.0:0.0:0.0	19.217	0.93770	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	.	.	.	.	.	.	.	.	0.07143	1589.45	35	chr12	128810040	.	C	T	1589.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.47;DP=318;ExcessHet=0;FS=0.616;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.12;ReadPosRankSum=0.413;SOR=0.751	GT:AD:DP:GQ:PL	0/1:76,67:143:99:1600,0,1736	6	0	1	0
chr12	128814890	128814890	C	T	exonic	SLC15A4	.	nonsynonymous SNV	SLC15A4:NM_145648:exon2:c.G727A:p.G243S	.	430	1089	3	0	0	3	0.00137552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.281	0.0267860072239	0.0029	0.00119808	0.0029	0.0009	0.0003	0	0.0015	0.0042	0.0022	0.0027	0.0030013	464	154602	rs35580712	0.0036	0.0036	0.0036	0.0036	0.0042	0.0035	0.0035	0.0041	0.0041	0.0006	0.0011	0.0007	5.038e-05	0.0020	0.0009	0.0042	0.0032	0.0025	0.0024	0.0024	0.0023	0.0024	0.0037	0.0022	0.0021	0.0033	0.0032	0.0007	0	0.0018	0.0017	0.0002	0.0033	0	0.0037	0.0033	0.0015	0.065	0.36310	T	0.018	0.59732	D	0.624	0.40023	P	0.297	0.40924	B	0.000000	0.84330	D	0.046590	1	0.81001	D	2.94	0.84723	M	2.6	0.13204	T	-2.48	0.54059	N	0.275	0.31140	-1.1584	0.00796	T	0.040	0.17020	T	10	0.008869767	0.00201	T	0.026786	0.49666	D	0.281	0.59861	.	.	0.356484672536	0.35262	0.8225520409458024	0.82212	0.722186724594	0.62265	0.560724377632	0.47370	T	0.193677	0.54921	T	-0.18933	0.22355	T	-0.039609	0.67728	D	0.102423645555973	0.12622	T	0.775622	0.40735	T	0.28054446	0.51102	0.28978038	0.54999	0.28054446	0.51101	0.28978038	0.54998	-4.734	0.33813	T	.	.	0.225	0.45629	B	.	.	2.944430	0.39164	20.9	0.99720067916859323	0.81984	0.94457	0.61227	D	AEFDBCI	0.668547	0.63629	D	0.323898286552336	0.57377	3.904836	0.360382170206609	0.59136	4.088958	0.999999999999999	0.74766	0.706548	0.73137	0	0.672317	0.65289	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.68	5.68	0.88021	4.421000	0.59598	3.919000	0.40458	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.170000	0.20979	0.0:1.0:0.0:0.0	18.785	0.91914	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	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.003788	0.07143	1443.44	57	chr12	128814890	.	C	T	1443.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.377;DP=403;ExcessHet=0;FS=3.266;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.03;ReadPosRankSum=-0.906;SOR=0.528	GT:AD:DP:GQ:PL	0/1:59,61:120:99:1454,0,1421	6	0	1	0
chr12	128914983	128914983	C	T	exonic	GLT1D1	.	nonsynonymous SNV	GLT1D1:NM_001366887:exon5:c.C337T:p.R113C,GLT1D1:NM_001366886:exon6:c.C463T:p.R155C,GLT1D1:NM_001366889:exon7:c.C511T:p.R171C	.	434	1081	6	1	0	8	0.00368664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.0588680807464	.	0.00159744	0.0038	0.0018	0	0	0	0.0036	0	0.0043	0.0008861	137	154602	rs79317403	0.0036	0.0034	0.0035	0.0036	0.0040	0.0035	0.0035	0.0039	0.0039	0.0004	0.0011	0.0010	5.599e-05	0.0018	0.0019	0.0040	0.0032	0.0037	0.0024	0.0024	0.0023	0.0025	0.0037	0.0022	0.0021	0.0034	0.0032	0.0005	0	0.0020	0.0017	0.0002	0.0031	0	0.0037	0.0028	0.0029	0.055	0.40832	T	0.131	0.36630	T	0.042	0.21471	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	1.95	0.52479	M	-1.29	0.79475	T	-1.88	0.45949	N	0.151	0.18239	-0.7969	0.55327	T	0.280	0.65159	T	8	0.0048719943	0.00104	T	0.058868	0.67466	D	0.123	0.34020	.	.	0.132336055621	0.12781	.	.	.	.	.	.	.	0.023808	0.18107	T	-0.452971	0.01085	T	-0.419712	0.31107	T	0.00372698561778221	0.00039	T	0.743426	0.36288	T	0.068533234	0.14937	0.048810787	0.07329	0.068533234	0.14937	0.048810787	0.07328	-5.176	0.38697	T	.	.	0.071	0.09094	B	.;.	.;.	1.168331	0.15580	11.95	0.91454915598856867	0.20725	0.14231	0.18293	N	AEFDGBHCI	0.072715	0.14521	N	-1.00069423350754	0.08589	0.4033189	-1.05438465293318	0.08616	0.4244913	0.999688917972607	0.41756	0.487112	0.14033	0	0.68618	0.66647	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.05	0.621	0.16817	0.016000	0.13272	-1.896000	0.04535	-0.202000	0.08738	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2226:0.4663:0.0:0.311	3.357	0.06754	994	0.00715	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1068.63	34	chr12	128914983	.	C	T	1068.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.66;DP=260;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.74;ReadPosRankSum=0.469;SOR=0.641	GT:AD:DP:GQ:PL	0/1:43,48:91:99:1079,0,855	6	0	1	0
chr12	131921220	131921220	G	A	exonic	ULK1	.	nonsynonymous SNV	ULK1:NM_003565:exon27:c.G3082A:p.E1028K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.164	0.0732706279681	.	0.000599042	0.0002	0	0.0002	0.0006	0.0006	0.0001	0	0.0004	0.0001876	29	154602	rs147255549	0.0002	0.0002	0.0002	0.0002	0.0010	0.0002	0.0001	0.0008	0.0007	2.987e-05	0.0001	0	0.0010	0.0009	0	0.0001	0.0001	0.0004	0.0002	0.0002	8.994e-05	0.0002	0.0012	0.0001	8.711e-05	0.0005	0.0003	7.215e-05	0	0.0005	0	0.0012	0.0002	0	5.881e-05	0.0005	0	0.308	0.14111	T	0.563	0.09022	T	0.994	0.66517	D	0.734	0.55432	P	0.002002	0.37457	N	0.233506	0.998911	0.81001	D	2.19	0.61577	M	0.97	0.42502	T	-1.66	0.39692	N	0.677	0.68429	-0.3179	0.74480	T	0.352	0.71596	T	10	0.25222147	0.42573	T	0.073271	0.71746	D	0.164	0.42212	.	.	0.295975759948	0.29207	0.24827546023967714	0.24741	0.48005323833	0.47028	0.592886030674	0.51901	T	0.190132	0.54458	T	-0.234317	0.16081	T	-0.244355	0.50372	T	0.248365134000778	0.22799	T	0.975902	0.91565	D	0.07467611	0.16774	0.11415609	0.27554	0.07467611	0.16774	0.11415609	0.27553	-7.097	0.54739	T	.	.	0.120	0.24700	B	.	.	3.961012	0.58095	23.9	0.99909642818984024	0.97949	0.94015	0.59857	D	AEFGBHCI	0.853381	0.77033	D	0.367086382370248	0.59646	4.145917	0.391628305893217	0.61046	4.299629	0.999999797816741	0.74766	0.706548	0.73137	0	0.643519	0.57511	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.03	5.03	0.67015	7.262000	0.77815	11.597000	0.93447	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.351000	0.25682	0.0:0.0:1.0:0.0	18.726	0.91676	976	0.04745	Serine/threonine-protein kinase, 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	.	.	.	.	.	.	.	.	0.07143	1110.49	33	chr12	131921220	.	G	A	1110.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.37;DP=279;ExcessHet=0;FS=0.766;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.57;ReadPosRankSum=-0.37;SOR=0.629	GT:AD:DP:GQ:PL	0/1:49,47:96:99:1121,0,1015	6	0	1	0
chr12	132626154	132626154	C	T	exonic	POLE	.	nonsynonymous SNV	POLE:NM_006231:exon46:c.G6494A:p.R2165H	FILS syndrome, Autosomal recessive	433	1029	57	3	0	63	0.029703	.	.	.	222211	Hereditary_cancer-predisposing_syndrome|not_specified|not_provided|Colorectal_cancer,_susceptibility_to,_12	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0014038,MedGen:C3554460,OMIM:615083,Orphanet:220460	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.259	.	0.0068	0.00978435	0.0092	0.0123	0.0048	0.0169	0.0009	0.0064	0.0192	0.0178	0.0058408	903	154602	rs5745068	0.0045	0.0045	0.0041	0.0048	0.0309	0.0044	0.0043	0.0271	0.0256	0.0088	0.0029	0.0093	0.0057	0.0004	0.0309	0.0034	0.0071	0.0144	0.0057	0.0057	0.0055	0.0060	0.0108	0.0054	0.0053	0.0085	0.0077	0.0082	0.0011	0.0052	0.0084	0.0108	0.0002	0.0170	0.0043	0.0085	0.0104	0.035	0.43708	D	0.05	0.48080	T	0.993	0.65571	D	0.616	0.51268	P	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	3.29	0.90338	M	1.86	0.24285	T	-3.7	0.70553	D	0.633	0.64648	-0.8366	0.52871	T	0.096	0.36081	T	10	0.011993051	0.00260	T	.	.	.	0.259	0.57090	.	.	0.517432700143	0.51384	0.5751870939627702	0.57447	0.58252265955	0.54005	0.542047679424	0.44735	T	0.703579	0.91486	D	-0.347488	0.04887	T	-0.260242	0.48800	T	0.0424953375228143	0.04145	T	0.962504	0.85970	D	0.37450618	0.58915	0.16561173	0.38303	0.45453155	0.64329	0.18027803	0.40816	-5.607	0.42856	T	0.4042567981621327	0.49558	0.135	0.37914	B	.;.	.;.	4.019289	0.59351	24.1	0.99945681444665291	0.99901	0.96744	0.70707	D	AEFDBI	0.775560	0.70893	D	0.557586679574714	0.70546	5.517285	0.492725804327581	0.67508	5.093279	0.999999999939494	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.697927	0.64325	0	0.635551	0.53088	0	.	.	4.81	3.92	0.44525	5.919000	0.69736	2.207000	0.31336	0.599000	0.40250	1.000000	0.71638	0.978000	0.30204	0.854000	0.40426	0.0:0.9229:0.0:0.0771	13.228	0.59351	789	0.46346	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.029263	0.030303	0.020380	0.029240	0.050000	0.017241	0.033742	0.026515	0.1667	1060.92	20	chr12	132626154	.	C	T	1060.92	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.811;DP=212;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.05;ReadPosRankSum=-0.195;SOR=0.67	GT:AD:DP:GQ:PL	0/1:21,17:38:99:416,0,557	4	0	2	1
chr13	21157998	21157998	G	A	exonic	SKA3	.	nonsynonymous SNV	SKA3:NM_001166017:exon7:c.C1043T:p.T348M,SKA3:NM_145061:exon7:c.C1043T:p.T348M	.	433	1074	14	1	0	16	0.00739372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.0156544544811	0.0042	0.00219649	0.0035	0.0027	0.0012	0	0.0032	0.0049	0.0011	0.0021	0.0034088	527	154602	rs148901267	0.0036	0.0039	0.0037	0.0036	0.0042	0.0036	0.0035	0.0040	0.0040	0.0031	0.0010	0.0023	0	0.0032	0.0042	0.0041	0.0030	0.0014	0.0036	0.0037	0.0039	0.0034	0.0047	0.0034	0.0033	0.0043	0.0042	0.0032	0.0219	0.0019	0.0026	0	0.0024	0.0069	0.0047	0.0043	0.0012	0.02	0.49613	D	0.104	0.38160	T	0.992	0.64738	D	0.668	0.53048	P	0.521879	0.05207	N	1.245730	1	0.08975	N	1.59	0.40313	L	1.85	0.24472	T	-2.52	0.55983	D	0.182	0.19728	-0.9339	0.43560	T	0.052	0.22153	T	10	0.0060964823	0.00137	T	0.015654	0.36500	T	0.098	0.28162	.	.	0.214338557667	0.21045	0.16616548822875385	0.16536	0.50048715726	0.48470	0.228550493717	0.01862	T	0.006046	0.05488	T	-0.576738	0.00202	T	-0.596094	0.13143	T	0.0416320850346392	0.03987	T	0.794321	0.43725	T	0.025676368	0.01533	0.05929403	0.11104	0.025676368	0.01533	0.05929403	0.11103	-4.504	0.30941	T	.	.	0.087	0.11076	B	.;.	.;.	2.018298	0.25648	16.84	0.99173067305936913	0.54441	0.04664	0.10340	N	AEFBI	0.067010	0.13152	N	-0.48982128495439	0.22414	1.196648	-0.701919279891876	0.16913	0.8969288	0.973040928995683	0.29422	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.98	-4.3	0.03454	0.160000	0.16278	0.661000	0.20504	0.618000	0.50648	0.044000	0.21163	0.000000	0.08366	0.728000	0.35033	0.142:0.0:0.2946:0.5634	8.486	0.32234	624	0.65661	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.002717	0.000000	0.000000	0.000000	0.006098	0.003788	0.07143	505.53	33	chr13	21157998	.	G	A	505.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.73;DP=214;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.44;ReadPosRankSum=0.317;SOR=0.704	GT:AD:DP:GQ:PL	0/1:15,20:35:99:516,0,288	6	0	1	0
chr13	25171148	25171148	C	G	exonic	AMER2	.	nonsynonymous SNV	AMER2:NM_152704:exon1:c.G472C:p.A158P,AMER2:NM_199138:exon2:c.G472C:p.A158P	.	358	1142	20	2	0	24	0.0103986	.	.	.	3265478	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.220	0.104579600726	.	0.000199681	0.0011	0.0007	0.0010	0	0.0003	0.0016	0.0026	0.0005	0.0009056	140	154602	rs200352589	0.0009	0.0009	0.0008	0.0009	0.0233	0.0008	0.0008	0.0200	0.0188	0.0003	0.0018	0.0041	0	9.825e-05	0.0233	0.0007	0.0018	0.0007	0.0010	0.0010	0.0010	0.0010	0.0027	0.0009	0.0008	0.0020	0.0018	0.0003	0	0.0027	0.0049	0	9.461e-05	0.0240	0.0009	0.0028	0.0012	0.142	0.31834	T	0.119	0.36101	T	0.999	0.90584	D	0.976	0.76916	D	0.046023	0.23478	N	0.415730	0.927226	0.36858	D	2.32	0.66415	M	2.14	0.19450	T	-2.21	0.52938	N	0.485	0.51940	-1.0456	0.15650	T	0.074	0.29992	T	10	0.016473144	0.00347	T	0.10458	0.77923	D	0.220	0.51569	.	.	0.0806252709748	0.07271	0.4406174403045624	0.43978	.	.	0.895821988583	0.95963	D	0.013835	0.11891	T	-0.232097	0.16372	T	-0.151719	0.59091	T	0.0653049979804275	0.07975	T	0.758124	0.38180	T	0.648277	0.75272	0.73257464	0.84197	0.648277	0.75273	0.73257464	0.84198	-5.689	0.45630	T	.	.	0.513	0.65167	A	.;.	.;.	4.386479	0.67653	25.1	0.99536488398840217	0.70212	0.89026	0.49250	D	AEFDBCI	0.747934	0.68984	D	0.237529650415535	0.53026	3.473423	0.207072149026738	0.50240	3.218084	0.999901297351769	0.45458	0.437478	0.07067	0	0.475579	0.06741	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	3.38	3.38	0.37806	3.753000	0.54896	4.227000	0.42629	0.437000	0.21030	1.000000	0.71638	1.000000	0.68203	0.928000	0.46473	0.0:1.0:0.0:0.0	13.903	0.63319	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	0.021673	0.051546	0.017663	0.029240	0.000000	0.026316	0.015244	0.007576	0.07143	323.83	21	chr13	25171148	.	C	G	323.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.632;DP=181;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.79;ReadPosRankSum=-0.377;SOR=0.525	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:17,13:30:99:0|1:25171140_C_T:334,0,441:25171140	6	0	1	0
chr13	38687876	38687876	C	A	exonic	FREM2	.	nonsynonymous SNV	FREM2:NM_207361:exon1:c.C532A:p.Q178K	Fraser syndrome, Autosomal recessive	1	1503	18	0	0	18	0.00595238	.	.	.	319605	not_provided|Fraser_syndrome_2|Isolated_cryptophthalmia|FREM2-related_disorder	MedGen:C3661900|MONDO:MONDO:0054738,MedGen:C4540036,OMIM:617666|MONDO:MONDO:0007410,MedGen:C1852453,OMIM:123570,Orphanet:91396|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.168	0.0124422121014	7.7e-05	.	0.0005	0	0.0014	0	0	0.0003	0	0.0015	0.0002523	39	154602	rs148774506	0.0002	0.0002	0.0001	0.0002	0.0012	0.0001	0.0001	0.0010	0.0009	0	0.0002	0.0030	0	0	0.0004	3.03e-05	0.0003	0.0012	0.0001	0.0001	7.705e-05	0.0001	0.0010	6.504e-05	5.317e-05	0.0004	0.0003	0	0	0.0001	0.0023	0	0	0	1.47e-05	0	0.0010	0.147	0.24955	T	0.114	0.36765	T	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	2.18	0.18875	T	-1.7	0.40468	N	0.783	0.77978	-1.1070	0.03340	T	0.062	0.25744	T	10	0.079720825	0.12856	T	0.012442	0.31014	T	0.168	0.42943	.	.	0.390060412749	0.38622	0.5399021231988141	0.53915	0.315621089703	0.33839	0.708732783794	0.68410	T	.	.	.	-0.281537	0.10505	T	-0.222737	0.52471	T	0.0642546956653411	0.07820	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.614	0.69464	P	.	.	3.771298	0.54171	23.5	0.99456474864214039	0.65581	0.95902	0.66648	D	AEFDBCI	0.838083	0.75564	D	0.326360227089557	0.57505	3.918081	0.42849369769751	0.63347	4.56663	1.0	0.98316	0.72623	0.87236	0	0.563428	0.19063	0	0.594344	0.31042	0	0.530356	0.10902	0	.	.	4.93	4.93	0.64394	7.457000	0.79807	7.642000	0.63248	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.339	0.90241	938	0.14419	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003535	0.000000	0.001359	0.005882	0.000000	0.008621	0.006135	0.003788	0.07143	1745.44	34	chr13	38687876	.	C	A	1745.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.311;DP=335;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.33;ReadPosRankSum=0.187;SOR=0.719	GT:AD:DP:GQ:PL	0/1:82,72:154:99:1756,0,2081	6	0	1	0
chr13	39013272	39013272	C	A	exonic	PROSER1	.	nonsynonymous SNV	PROSER1:NM_170719:exon10:c.G1914T:p.L638F,PROSER1:NM_025138:exon11:c.G1980T:p.L660F	.	417	1098	7	0	0	7	0.00317749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.346	0.0973073566141	0.0027	0.00139776	0.0023	9.617e-05	0.0022	0	0.0023	0.0030	0.0022	0.0021	0.0023415	362	154602	rs138493654	0.0032	0.0032	0.0033	0.0032	0.0045	0.0032	0.0031	0.0036	0.0035	0.0007	0.0016	0.0021	0	0.0019	0.0045	0.0037	0.0027	0.0024	0.0022	0.0022	0.0023	0.0021	0.0037	0.0020	0.0019	0.0033	0.0032	0.0004	0	0.0017	0.0023	0	0.0013	0.0034	0.0037	0.0024	0.0025	0.124	0.27426	T	0.066	0.48336	T	1.0	0.90584	D	0.997	0.86255	D	.	.	.	.	0.762768	0.34058	D	2.175	0.60977	M	-0.48	0.70249	T	-1.83	0.42957	N	0.649	0.66016	-0.4594	0.70088	T	0.277	0.64896	T	8	0.010048866	0.00225	T	0.097307	0.76751	D	0.346	0.66769	0.335	0.32329	0.244449712813	0.24043	0.49871440507767784	0.49792	0.426492723651	0.43021	0.427170664072	0.28821	T	0.085943	0.37614	T	-0.26709	0.12084	T	-0.154098	0.58879	T	0.0316969013864098	0.02257	T	0.914909	0.69682	D	0.04847475	0.08456	0.08575462	0.19820	0.04847475	0.08456	0.08575462	0.19820	-4.21	0.28706	T	.	.	0.164	0.44449	B	.;.	.;.	1.658837	0.21158	15.08	0.99660087901511651	0.77883	0.32248	0.24538	N	AEFDBCI	0.105130	0.21015	N	-0.338330387511936	0.27703	1.522099	-0.524181724080292	0.21497	1.163196	0.746058225863252	0.23286	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.27	-0.468	0.11539	-1.185000	0.03182	-1.448000	0.05416	0.524000	0.24156	0.016000	0.19238	0.000000	0.08366	0.897000	0.43391	0.0:0.5255:0.0:0.4745	11.529	0.49849	872	0.31118	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006042	0.000000	0.010870	0.008772	0.000000	0.000000	0.006098	0.000000	0.07143	2031.45	34	chr13	39013272	.	C	A	2031.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.702;DP=430;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.72;ReadPosRankSum=2.26;SOR=0.732	GT:AD:DP:GQ:PL	0/1:63,75:138:99:2042,0,1597	6	0	1	0
chr13	52846516	52846516	C	T	exonic	PCDH8	.	nonsynonymous SNV	PCDH8:NM_002590:exon1:c.G1921A:p.A641T,PCDH8:NM_032949:exon1:c.G1921A:p.A641T	.	431	1088	3	0	0	3	0.00137678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.236	0.0672970058432	7.8e-05	.	6.097e-05	0	0.0003	0	0	0	0	0.0002	3.88e-05	6	154602	rs151188907	2.838e-05	2.805e-05	2.756e-05	2.922e-05	0.0005	2.112e-05	1.901e-05	0.0001	9.247e-05	0	0.0002	0	0	0	0.0005	2.072e-05	0	5.842e-05	3.939e-05	3.937e-05	2.569e-05	5.37e-05	7.351e-05	1.714e-05	1.129e-05	2.847e-05	1.858e-05	0	0	6.53e-05	0	0	0	0	7.351e-05	0	0	0.219	0.19023	T	0.065	0.45110	T	0.976	0.58310	D	0.908	0.64494	P	0.105311	0.19664	N	0.365054	0.989593	0.40984	D	2.815	0.81989	M	0.53	0.55090	T	-2.1	0.47852	N	0.356	0.44090	-0.2606	0.76071	T	0.346	0.71115	T	10	0.46754757	0.59663	T	0.067297	0.70124	D	0.236	0.53931	.	.	0.476205827853	0.47248	0.49865962390258284	0.49786	.	.	0.844876587391	0.88838	D	0.238662	0.60661	T	-0.266011	0.12204	T	-0.318161	0.42777	T	0.658953130245209	0.38850	D	0.819918	0.47811	T	0.20367062	0.42451	0.24913181	0.50477	0.20367062	0.42451	0.24913181	0.50476	-12.46	0.87283	D	.	.	0.126	0.26607	B	.;.	.;.	4.114254	0.61441	24.3	0.99764192980961741	0.85335	0.99338	0.94702	D	AEFDBHCI	0.337138	0.43503	N	0.415056578575425	0.62248	4.437833	0.296869216897194	0.55357	3.698749	0.999999998712747	0.74766	0.59774	0.34471	0	0.615948	0.52940	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	4.08	3.19	0.35720	2.210000	0.42455	1.021000	0.23405	0.596000	0.33519	1.000000	0.71638	0.118000	0.22871	0.838000	0.39538	0.1655:0.8345:0.0:0.0	12.747	0.56662	372	0.84213	Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	715.44	31	chr13	52846516	.	C	T	715.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.369;DP=264;ExcessHet=0;FS=5.098;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.54;ReadPosRankSum=-1.783;SOR=0.762	GT:AD:DP:GQ:PL	0/1:32,30:62:99:726,0,822	6	0	1	0
chr13	69882456	69882456	G	A	exonic	KLHL1	.	nonsynonymous SNV	KLHL1:NM_001286725:exon4:c.C871T:p.L291F,KLHL1:NM_020866:exon5:c.C1054T:p.L352F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.426	0.0648284192983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.021	0.63109	D	0.998	0.73220	D	0.992	0.80445	D	0.000036	0.55875	D	0.000000	0.986518	0.40444	D	2.89	0.83701	M	-0.39	0.69158	T	-2.91	0.60982	D	0.547	0.58629	0.346	0.88281	D	0.580	0.84898	D	10	0.5550405	0.64469	D	0.064828	0.69397	D	0.426	0.73372	0.457	0.52265	0.77630264569	0.77424	0.20463235290269857	0.20380	0.210258746393	0.23511	0.712280154228	0.68924	T	0.595999	0.86982	D	0.0531689	0.58749	T	-0.161403	0.58226	T	0.988282024860382	0.78636	D	0.964204	0.86724	D	0.46265322	0.64836	0.37256262	0.62462	0.46265322	0.64837	0.37256262	0.62462	-10.752	0.78280	D	.	.	0.481	0.63722	A	.;.	.;.	5.474448	0.91308	32	0.99901283922638506	0.97275	0.94895	0.62702	D	AEFI	0.697597	0.65555	D	0.812871305168358	0.86905	9.037639	0.740323524884371	0.85433	8.578981	0.985978107960792	0.30982	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.08	5.08	0.68373	3.554000	0.53466	11.664000	0.94021	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.834	0.92121	907	0.22727	BTB/Kelch-associated|BTB/Kelch-associated;BTB/Kelch-associated|BTB/Kelch-associated	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	214.14	80	chr13	69882456	.	G	A	214.14	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-2.587;DP=670;ExcessHet=3.1439;FS=184.8;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=0.52;ReadPosRankSum=1.12;SOR=10.665	GT:AD:DP:GQ:PL	0/1:76,30:121:47:47,0,1189	2	0	4	1
chr13	71866690	71866690	G	A	exonic	DACH1	.	nonsynonymous SNV	DACH1:NM_001366712:exon1:c.C80T:p.S27F,DACH1:NM_004392:exon1:c.C80T:p.S27F,DACH1:NM_080759:exon1:c.C80T:p.S27F,DACH1:NM_080760:exon1:c.C80T:p.S27F	.	356	1164	2	0	0	2	0.000858369	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.0363672514815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.292e-06	4.788e-06	3.02e-06	1.546e-06	0.0004	6.1e-07	1.7e-07	6.994e-05	2.919e-05	0	0	0	0	0	0.0004	0	1.894e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.92824	D	0.984	0.60733	D	0.919	0.65474	D	0.001160	0.40056	U	0.000000	0.650618	0.32960	D	0.695	0.17993	N	.	.	.	.	.	.	0.363	0.40465	-0.7166	0.59629	T	0.123	0.42483	T	10	0.23526832	0.40584	T	0.036367	0.56945	D	.	.	0.207	0.12356	0.193917141947	0.19028	0.2719581692158825	0.27108	.	.	0.904740869999	0.96948	D	0.160103	0.50382	T	-0.0591163	0.43045	T	-0.322693	0.42279	T	0.746822595596313	0.43109	D	0.808919	0.45897	T	0.18090226	0.39235	0.22480561	0.47404	0.18090226	0.39234	0.22480561	0.47403	-8.55	0.64904	D	.	.	0.451	0.67861	A	.;.;.;.	.;.;.;.	4.610065	0.73095	25.9	0.9933692176011506	0.60012	0.91615	0.53899	D	AEFDBCI	0.744283	0.68732	D	0.377793504597334	0.60220	4.208632	0.348856508397047	0.58438	4.014355	0.999999985486328	0.74766	0.495885	0.18260	0	0.475579	0.06741	0	0.608004	0.38603	0	0.249971	0.05119	0	.	.	3.22	3.22	0.36041	3.774000	0.55048	10.667000	0.83547	0.673000	0.70640	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	14.558	0.67706	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	.	.	.	.	.	.	.	.	0.07143	526.83	33	chr13	71866690	.	G	A	526.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.885;DP=212;ExcessHet=0;FS=2.75;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.85;ReadPosRankSum=-0.039;SOR=0.481	GT:AD:DP:GQ:PL	0/1:18,23:41:99:537,0,408	6	0	1	0
chr13	96023648	96023648	G	C	exonic	UGGT2	.	nonsynonymous SNV	UGGT2:NM_020121:exon3:c.C353G:p.A118G	.	433	1087	2	0	0	2	0.000919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.130	0.00752850851458	.	0.00139776	0.0006	0	0	0	0	0	0	0.0044	0.0005239	81	154602	rs574889711	0.0002	0.0002	0.0001	0.0003	0.0036	0.0002	0.0002	0.0033	0.0031	0	0	0	0	0	0	0	0.0004	0.0036	0.0001	0.0001	7.713e-05	0.0002	0.0037	7.577e-05	6.282e-05	0.0024	0.0020	0	0	0	0	0	0	0	0	0	0.0037	0.124	0.54683	T	0.151	0.59732	T	0.077	0.39417	B	0.028	0.38393	B	0.000002	0.62929	D	0.101452	0.521911	0.31562	N	0.805	0.20218	L	3.08	0.31731	T	-1.75	0.49018	N	0.543	0.57006	-0.9102	0.46830	T	0.077	0.30737	T	10	0.00936085	0.00211	T	0.007529	0.19979	T	0.130	0.35528	0.407	0.44066	0.237489013734	0.23353	0.43654031898618306	0.43571	0.0617698166074	0.06879	0.240367591381	0.02823	T	0.017881	0.25416	T	-0.446022	0.01192	T	-0.413327	0.31843	T	0.112813338514751	0.13713	T	0.846215	0.68443	T	0.2101474	0.43303	0.26604	0.52445	0.2101474	0.43303	0.26604	0.52444	-4.998	0.36819	T	.	.	0.128	0.36869	B	.;.;.;.;.;.	.;.;.;.;.;.	4.659363	0.74356	26.1	0.99374432520685518	0.61585	0.97983	0.78628	D	AEFGBI	0.768749	0.70421	D	0.300595233381731	0.56178	3.782321	0.422471672987411	0.62967	4.52153	0.999999897188928	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.58	5.58	0.84361	7.060000	0.76393	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.1303:0.8697:0.0	16.553	0.84327	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	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	1583.44	33	chr13	96023648	.	G	C	1583.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.671;DP=371;ExcessHet=0;FS=1.851;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.56;ReadPosRankSum=0.117;SOR=0.542	GT:AD:DP:GQ:PL	0/1:107,78:185:99:1594,0,2460	6	0	1	0
chr13	102738219	102738219	C	G	exonic	CCDC168	.	nonsynonymous SNV	CCDC168:NM_001146197:exon4:c.G12478C:p.V4160L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.167e-05	0.0022	6.326e-05	3.979e-05	6.248e-05	4.177e-05	3.835e-05	5.038e-05	4.595e-05	0	2.807e-05	0	0	0	0	6.248e-05	3.499e-05	2.541e-05	1.334e-05	2.64e-05	1.303e-05	1.368e-05	1.486e-05	2.22e-06	8.3e-07	.	.	0	0	0	0	0	9.686e-05	0	1.486e-05	0	0	.	.	.	0.068	0.44106	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	0.19459	.	.	.	.	.	.	.	0.09865704	0.17852	T	.	.	.	.	.	.	.	0.0806252709748	0.07271	0.022759760475440007	0.02227	.	.	0.381038725376	0.22403	T	.	.	.	-0.129836	0.31521	T	-0.424277	0.30586	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.349	0.56507	A	.	.	0.179806	0.05674	2.123	0.42346026630768363	0.03115	0.07449	0.13466	N	AEFBI	.	.	.	.	.	.	.	.	.	0.921212253802681	0.26663	0.06567	0.01388	0	0.059962	0.00310	0	0.063197	0.01477	0	0.075334	0.01956	0	0.0512898	0.10407	3.08	0.322	0.15131	1.882000	0.39283	-0.398000	0.09429	0.454000	0.21428	0.029000	0.20367	0.000000	0.08366	0.017000	0.10941	0.0:0.5804:0.0:0.4196	5.169	0.14429	951	0.11083	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2143	367.67	107	chr13	102738219	.	C	G	367.67	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-4.291;DP=876;ExcessHet=1.1394;FS=197.265;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=0.73;ReadPosRankSum=2.24;SOR=9.811	GT:AD:DP:GQ:PL	0/1:156,46:202:99:281,0,3117	4	0	3	0
chr13	110456941	110456941	-	GTG	exonic	COL4A2-AS2	.	nonframeshift insertion	COL4A2-AS2:NM_001267044:exon5:c.783_784insCAC:p.Q261_G262insH	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	9.39e-05	0.0001	0.0001	0.0002	0.0001	0.0001	9.816e-05	8.405e-05	0.0002	0.0001	0.0004	0.0001	0.0001	0	0.0001	0.0001	0.0001	0.0009	0.0012	0.0010	0.0008	0.0011	0.0007	0.0007	0.0009	0.0008	0.0008	0	0.0006	0.0012	0.0005	0.0006	0	0.0011	0.0005	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	404.23	36	chr13	110456941	.	C	CGTG	404.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.142;DP=248;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=48.51;MQRankSum=2.63;QD=10.11;ReadPosRankSum=0.776;SOR=0.818	GT:AD:DP:GQ:PL	0/1:12,28:40:99:414,0,201	5	0	1	1
chr13	110456942	110456942	-	GTCTGCGTGGGACCCCAGGCGTCCGTGGGGCTGATGCCG	exonic	COL4A2-AS2	.	nonframeshift insertion	COL4A2-AS2:NM_001267044:exon5:c.782_783insCGGCATCAGCCCCACGGACGCCTGGGGTCCCACGCAGAC:p.Q261delinsHGISPTDAWGPTQT	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0002	0.0003	0.0003	0.0008	0.0002	0.0002	0.0002	0.0001	0.0008	0.0001	0.0009	0.0002	0.0002	0	0.0002	0.0001	0.0003	0.0006	0.0008	0.0005	0.0007	0.0011	0.0004	0.0004	0.0005	0.0004	0.0009	0	0.0011	0.0008	0.0005	0.0003	0	0.0005	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	556.72	36	chr13	110456942	.	C	CGTCTGCGTGGGACCCCAGGCGTCCGTGGGGCTGATGCCG	556.72	.	AC=1;AF=0.167;AN=6;BaseQRankSum=0.756;DP=236;ExcessHet=0.9691;FS=0.894;MLEAC=1;MLEAF=0.167;MQ=51.31;MQRankSum=2.63;QD=7.23;ReadPosRankSum=-0.829;SOR=0.872	GT:AD:DP:GQ:PL	0/1:12,28:40:99:506,0,196	2	0	1	4
chr13	110457229	110457232	GATG	-	exonic	COL4A2-AS2	.	frameshift deletion	COL4A2-AS2:NM_001267044:exon5:c.493_496del:p.H165Sfs*84	.	204	1315	2	1	0	4	0.0015186	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0061	0.0062	0.0230	0	0	0.0166	0.0435	0.0006	0.0002305	6	26028	rs768746402	0.0023	0.0059	0.0024	0.0022	0.0084	0.0022	0.0021	0.0069	0.0063	0.0084	0.0014	0.0032	0.0048	0.0009	0.0010	0.0020	0.0019	0.0020	0.0005	0.0034	0.0006	0.0005	0.0014	0.0004	0.0004	0.0008	0.0006	0.0011	0	0.0005	0	0.0014	0.0001	0	0.0002	0.0008	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	40.8	38	chr13	110457228	.	TGATG	T	40.8	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.663;DP=211;ExcessHet=0.3476;FS=1.599;MLEAC=1;MLEAF=0.071;MQ=52.94;MQRankSum=1.02;QD=0.73;ReadPosRankSum=2.39;SOR=1.085	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:14,3:17:51:0|1:110457228_TGATG_T:51,0,477:110457228	6	0	1	0
chr13	110457229	110457229	G	0	exonic	COL4A2-AS2	.	.	.	.	743	724	34	19	2	74	0.0473684	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	806.46	38	chr13	110457229	.	G	*	806.46	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0;DP=217;ExcessHet=0.095;FS=1.959;MLEAC=2;MLEAF=0.167;MQ=54.42;MQRankSum=0.842;QD=8.96;ReadPosRankSum=1.28;SOR=1.166	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,3:5:39:1|0:110457228_TGATG_T:91,39,472:110457228	4	0	2	1
chr13	110457234	110457271	CCTGCGTCTGCGTGGGACCCCAGGCGTCCGTGGGGCTG	-	exonic	COL4A2-AS2	.	frameshift deletion	COL4A2-AS2:NM_001267044:exon5:c.454_491del:p.Q152Afs*209	.	143	1376	2	1	0	4	0.00145138	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0090	0.0048	0.0192	0	0	0.0244	0.0385	0.0006	3.84e-05	1	26028	rs761923541	0.0018	0.0048	0.0019	0.0018	0.0061	0.0017	0.0017	0.0049	0.0044	0.0061	0.0009	0.0028	0.0039	0.0008	0.0004	0.0016	0.0015	0.0014	0.0005	0.0027	0.0004	0.0006	0.0012	0.0004	0.0003	0.0008	0.0007	0.0011	0	0.0005	0.0004	0.0012	0.0001	0	0.0001	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	46.8	38	chr13	110457233	.	CCCTGCGTCTGCGTGGGACCCCAGGCGTCCGTGGGGCTG	C	46.8	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.529;DP=261;ExcessHet=0.3476;FS=1.599;MLEAC=1;MLEAF=0.071;MQ=57.89;MQRankSum=1.02;QD=0.84;ReadPosRankSum=2.52;SOR=1.085	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:14,3:17:57:0|1:110457228_TGATG_T:57,0,512:110457228	6	0	1	0
chr13	110457271	110457271	G	0	exonic	COL4A2-AS2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	2025.67	37	chr13	110457271	.	G	*	2025.67	.	AC=1;AF=0.1;AN=10;BaseQRankSum=1.65;DP=343;ExcessHet=0;FS=3.076;MLEAC=1;MLEAF=0.1;MQ=57.25;MQRankSum=-1.345;QD=24.12;ReadPosRankSum=2.37;SOR=1.158	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:3,3:8:99:.:.:1798,523,433:.	4	0	1	2
chr13	112068120	112068125	CATGGG	-	exonic	SOX1	.	nonframeshift deletion	SOX1:NM_005986:exon1:c.462_467del:p.M155_G156del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1199447510	7.075e-05	6.366e-05	6.267e-05	7.918e-05	0.0002	5.839e-05	5.375e-05	8.699e-05	6.512e-05	0.0002	0	0	0	0	0	6.922e-05	8.618e-05	0.0002	0.0002	0.0002	0.0002	0.0002	0.0005	0.0001	0.0001	0.0003	0.0002	0.0002	0	0.0005	0	0	0	0	0.0001	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	558.23	21	chr13	112068119	.	CCATGGG	C	558.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.718;DP=164;ExcessHet=0;FS=6.2;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=18.01;ReadPosRankSum=-0.754;SOR=0.145	GT:AD:DP:GQ:PL	0/1:14,17:31:99:568,0,509	5	0	1	1
chr13	112068121	112068127	ATGGGCG	0	exonic	SOX1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	617.48	13	chr13	112068121	.	ATGGGCG	*	617.48	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.28;DP=168;ExcessHet=0.1336;FS=1.202;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.43;ReadPosRankSum=0.864;SOR=0.495	GT:AD:DP:GQ:PL	0/1:14,17:31:99:568,0,509	5	0	1	1
chr14	19935751	19935751	G	A	exonic	OR4K1	.	nonsynonymous SNV	OR4K1:NM_001004063:exon1:c.G85A:p.A29T	.	420	1098	4	0	0	4	0.00181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.000895726507819	.	0.000798722	0.0007	0	0.0003	0	0.0002	0.0001	0.0033	0.0044	0.0006015	93	154602	rs567416945	0.0003	0.0003	0.0002	0.0003	0.0033	0.0002	0.0002	0.0030	0.0028	0	0.0003	0	5.042e-05	3.746e-05	0.0016	4.318e-05	0.0006	0.0033	0.0002	0.0002	0.0002	0.0002	0.0023	0.0001	0.0001	0.0013	0.0010	7.229e-05	0	0.0009	0	0	9.479e-05	0	0	0.0005	0.0023	0.057	0.37966	T	0.059	0.45961	T	0.0	0.02946	B	0.001	0.04355	B	0.153472	0.17891	N	0.510793	1	0.08975	N	0.47	0.13106	N	7.42	0.00404	T	-0.62	0.18248	N	0.056	0.02759	-0.9354	0.43333	T	0.001	0.00222	T	10	0.0027258098	0.00042	T	8.96E-4	0.00822	T	0.026	0.05648	0.365	0.37199	0.143124449307	0.13826	0.08590901483038506	0.08524	9.22648080292E-4	0.00079	0.222378313541	0.01452	T	0.005148	0.04592	T	-0.705625	0.00034	T	-0.788147	0.02216	T	0.00799009405573252	0.00094	T	0.105489	0.00786	T	0.06553517	0.14014	0.060310073	0.11466	0.06553517	0.14013	0.060310073	0.11465	-3.568	0.17395	T	.	.	0.077	0.06756	B	.;.;.	.;.;.	0.728219	0.10974	7.637	0.96975643507948395	0.31839	0.06458	0.12466	N	AEFGI	0.058723	0.11038	N	-0.822990604251722	0.12724	0.6220568	-0.787597397434311	0.14799	0.7751637	0.351019023223382	0.19683	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.68	0.49	0.16070	-2.021000	0.01528	-2.421000	0.03775	-0.103000	0.15852	0.000000	0.06391	0.000000	0.08366	0.750000	0.35786	0.0878:0.1457:0.3196:0.4469	3.131	0.06037	988	0.01987	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1646.44	35	chr14	19935751	.	G	A	1646.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.64;DP=679;ExcessHet=0;FS=1.346;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.84;ReadPosRankSum=0.027;SOR=0.571	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:71,68:139:99:0|1:19935750_T_C:1657,0,1542:19935750	6	0	1	0
chr14	21058256	21058256	G	A	exonic	RNASE8	.	nonsynonymous SNV	RNASE8:NM_138331:exon1:c.G364A:p.E122K	.	432	1088	2	0	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.0147330918215	.	0.000798722	0.0004	0	0	0.0037	0	4.497e-05	0	0.0005	0.000304	47	154602	rs140610133	0.0002	0.0002	0.0002	0.0002	0.0028	0.0002	0.0001	0.0024	0.0023	0	2.236e-05	3.826e-05	0.0028	1.872e-05	0.0010	7.824e-05	0.0002	0.0003	0.0002	0.0002	0.0001	0.0003	0.0041	0.0001	0.0001	0.0027	0.0023	0	0	0	0	0.0041	0	0	0.0001	0	0.0004	0.307	0.14159	T	0.872	0.03296	T	0.001	0.07471	B	0.018	0.18489	B	0.754935	0.09670	N	0.885614	1	0.08975	N	1.965	0.53209	M	-0.68	0.72568	T	-1.79	0.42191	N	0.165	0.17416	-1.0015	0.29488	T	0.135	0.45010	T	10	0.00453797	0.00094	T	0.014733	0.35036	T	0.094	0.27141	.	.	0.312306559268	0.30836	0.6161331992842477	0.61545	0.471812346882	0.46434	0.287520974874	0.08562	T	0.019378	0.15452	T	-0.473251	0.00811	T	-0.454674	0.27182	T	0.0112016561535282	0.00164	T	0.468753	0.13831	T	0.07586022	0.17118	0.052021105	0.08490	0.07586022	0.17118	0.052021105	0.08489	-3.037	0.10585	T	.	.	0.126	0.26669	B	.	.	1.159492	0.15481	11.88	0.68556342012252247	0.08694	0.03842	0.09192	N	AEFGBI	0.038389	0.05426	N	-1.06108530656938	0.07372	0.3422369	-1.12749778053297	0.07178	0.3482037	0.999236168647473	0.38840	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.8	-0.489	0.11451	0.169000	0.16457	-0.278000	0.10292	-0.110000	0.15115	0.000000	0.06391	0.000000	0.08366	0.049000	0.15107	0.2348:0.4184:0.3468:0.0	4.420	0.10904	946	0.12043	Ribonuclease A-domain|Ribonuclease A-domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	3101.44	33	chr14	21058256	.	G	A	3101.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.458;DP=449;ExcessHet=0;FS=1;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.87;ReadPosRankSum=0.255;SOR=0.778	GT:AD:DP:GQ:PL	0/1:120,121:241:99:3112,0,3033	6	0	1	0
chr14	22771321	22771321	C	T	exonic	OXA1L	.	nonsynonymous SNV	OXA1L:NM_005015:exon9:c.C1156T:p.R386W	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.0630633126355	0.0002	0.000399361	0.0002	0	0	0.0022	0	7.494e-05	0	0.0003	0.0002199	34	154602	rs201917650	9.714e-05	9.713e-05	8.031e-05	0.0001	0.0013	8.377e-05	7.915e-05	0.0010	0.0009	5.974e-05	6.709e-05	0.0002	0.0013	1.872e-05	0.0002	4.676e-05	0.0001	0.0002	0.0001	0.0001	7.709e-05	0.0001	0.0008	7.086e-05	5.743e-05	0.0003	0.0002	0.0002	0	0	0	0.0008	0	0	5.88e-05	0.0005	0	0.004	0.68238	D	0.008	0.67890	D	.	.	.	.	.	.	0.000446	0.44317	D	0.232973	1	0.81001	D	.	.	.	1.4	0.33630	T	-3.23	0.65056	D	0.26	0.29659	-1.0288	0.20843	T	0.075	0.30179	T	10	0.016230643	0.00342	T	0.063063	0.68850	D	0.060	0.17295	.	.	0.67593064658	0.67318	0.49653182005455365	0.49574	0.298180099167	0.32205	0.211020484567	0.00855	T	0.067408	0.33193	T	-0.47327	0.00811	T	-0.45986	0.26615	T	0.212013692394079	0.21058	T	0.860814	0.55431	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	0.33619	B	.;.;.;.	.;.;.;.	4.604992	0.72972	25.9	0.99905699180533036	0.97651	0.85216	0.44329	D	AEFBCI	0.790109	0.71910	D	0.19773802859562	0.51089	3.293121	0.228124974742874	0.51414	3.324116	0.973883793906513	0.29494	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.71	3.82	0.43153	3.651000	0.54172	1.412000	0.26289	0.599000	0.40250	1.000000	0.71638	0.968000	0.29604	0.402000	0.26827	0.2722:0.6478:0.0:0.08	7.353	0.25876	916	0.20744	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1362.63	64	chr14	22771321	.	C	T	1362.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.02;DP=418;ExcessHet=0;FS=1.553;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.73;ReadPosRankSum=0;SOR=0.895	GT:AD:DP:GQ:PL	0/1:54,53:107:99:1373,0,1300	6	0	1	0
chr14	23182829	23182829	G	A	exonic	SLC7A8	.	nonsynonymous SNV	SLC7A8:NM_012244:exon1:c.C86T:p.S29F	.	422	1048	49	3	0	55	0.0255695	.	.	.	702816	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.487	.	0.0028	0.0081869	0.0080	0.0003	0.0014	0	0.0006	0.0045	0.0067	0.0400	0.0070762	1094	154602	rs149980964	0.0047	0.0047	0.0036	0.0058	0.0380	0.0046	0.0046	0.0369	0.0365	0.0007	0.0019	0.0038	2.519e-05	0.0004	0.0196	0.0027	0.0050	0.0380	0.0032	0.0032	0.0028	0.0035	0.0345	0.0029	0.0028	0.0302	0.0286	0.0004	0	0.0016	0.0055	0	0.0002	0.0238	0.0035	0.0033	0.0345	0.017	0.57480	D	0.013	0.63109	D	0.832	0.46138	P	0.372	0.43610	B	0.341355	0.04190	N	1.418020	0.992952	0.41792	D	0.805	0.20218	L	-2.77	0.94729	D	-1.63	0.55181	N	0.273	0.30914	-0.1033	0.80023	T	0.687	0.89202	D	10	0.0052812696	0.00115	T	.	.	.	0.487	0.77528	.	.	0.909297500959	0.90839	0.3522502682804079	0.35139	0.297628983758	0.32147	0.453847408295	0.32470	T	0.361478	0.72755	T	-0.122026	0.32792	T	0.0805097	0.75612	D	0.0209146189981329	0.00792	T	0.665033	0.27384	T	0.2062962	0.42800	0.25939348	0.51687	0.16817287	0.37258	0.25939348	0.51686	-8.313	0.63183	D	.	.	0.099	0.35726	B	.;.;.;.	.;.;.;.	4.600120	0.72850	25.9	0.99476875340855098	0.66633	0.76768	0.37677	D	ALL	0.757503	0.69644	D	0.289633842244921	0.55621	3.726227	0.403552687569752	0.61787	4.383672	0.999999999999875	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.504199	0.09095	0	0.56751	0.32155	0	.	.	5.45	5.45	0.79688	5.488000	0.66589	11.809000	0.96880	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.897000	0.43391	0.0:0.0:1.0:0.0	16.771	0.85399	851	0.35303	.;.;.;.	.	.	.	.	.	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	0.012085	0.005051	0.008152	0.005848	0.000000	0.008621	0.003049	0.045455	0.1429	1962.26	83	chr14	23182829	.	G	A	1962.26	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.059;DP=347;ExcessHet=0.3476;FS=3.299;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=10.06;ReadPosRankSum=-0.656;SOR=0.963	GT:AD:DP:GQ:PL	0/1:67,45:112:99:1009,0,1701	5	0	2	0
chr14	24181800	24181800	G	A	exonic	IPO4	.	nonsynonymous SNV	IPO4:NM_024658:exon27:c.C2851T:p.R951W	.	.	.	.	.	.	.	.	.	.	.	3680326	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.272	0.0599605330098	.	.	5.219e-05	0	8.688e-05	0.0003	0	3.075e-05	0	0	3.88e-05	6	154602	rs777523326	3.528e-05	3.899e-05	3.156e-05	3.905e-05	0.0002	2.727e-05	2.465e-05	6.541e-05	4.469e-05	3.013e-05	2.283e-05	0	0.0002	1.903e-05	0.0002	3.357e-05	3.357e-05	2.376e-05	4.596e-05	5.25e-05	2.569e-05	6.713e-05	0.0004	2.108e-05	1.526e-05	6.825e-05	2.856e-05	2.406e-05	0	0	0	0.0004	0	0	5.88e-05	0	0	0.002	0.72154	D	0.005	0.72224	D	0.998	0.73220	D	0.932	0.66722	D	0.004748	0.33426	N	0.292719	0.926933	0.36849	D	2.455	0.71248	M	-0.25	0.67011	T	-4.26	0.76174	D	0.498	0.53093	-0.4327	0.70978	T	0.332	0.69943	T	10	0.32421717	0.49748	T	0.059961	0.67842	D	0.272	0.58758	.	.	0.742561799122	0.74024	0.35101117814146837	0.35015	0.807964130137	0.66590	0.617939114571	0.55438	T	0.520101	0.83201	D	-0.233743	0.16157	T	-0.217154	0.53010	T	0.449708327779033	0.30787	T	.	.	.	0.24981995	0.47980	0.3037639	0.56406	0.24981995	0.47980	0.3037639	0.56405	-7.491	0.57547	T	.	.	0.129	0.27732	B	.	.	4.138977	0.61994	24.4	0.9991209727406466	0.98095	0.41545	0.26681	N	AEFDGBCI	0.235785	0.35833	N	0.122321540928083	0.47505	2.975341	0.0302437626235402	0.41127	2.465639	0.999937716341792	0.46732	0.706548	0.73137	0	0.702456	0.74545	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.97	0.372	0.15405	0.968000	0.28955	5.290000	0.48206	0.676000	0.76740	0.616000	0.27880	1.000000	0.68203	0.985000	0.61073	0.0:0.1286:0.3159:0.5555	9.482	0.38071	894	0.26265	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1638.44	36	chr14	24181800	.	G	A	1638.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.232;DP=307;ExcessHet=0;FS=10.124;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.77;ReadPosRankSum=0.825;SOR=0.663	GT:AD:DP:GQ:PL	0/1:54,65:119:99:1649,0,1343	6	0	1	0
chr14	28767485	28767485	-	GCA	exonic	FOXG1	.	nonframeshift insertion	FOXG1:NM_005249:exon1:c.206_207insGCA:p.Q73_P74insQ	Rett syndrome, congenital variant, Isolated cases	438	1078	6	0	0	6	0.00277521	.	.	.	101164	FOXG1_disorder|FOXG1-related_disorder|not_specified|not_provided|Inborn_genetic_diseases|Rett_syndrome,_congenital_variant	MONDO:MONDO:0100040,MedGen:CN297063|.|MedGen:CN169374|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MedGen:C3150705,OMIM:613454,Orphanet:3095	reviewed_by_expert_panel	Benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	0	0	0	0.0002	1.29e-05	2	154602	rs1325616455	0.0002	0.0002	0.0002	0.0002	0.0014	0.0002	0.0002	0.0004	0.0002	5.479e-05	5.978e-05	0.0012	8.842e-05	0	0.0014	0.0002	0.0002	8.99e-05	0.0003	0.0003	0.0003	0.0003	0.0004	0.0002	0.0002	0.0002	0.0002	0.0002	0	6.86e-05	0.0027	0.0002	0	0	0.0003	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	844.59	43	chr14	28767485	.	C	CGCA	844.59	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.43;DP=249;ExcessHet=0;FS=9.313;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=18.36;ReadPosRankSum=-0.486;SOR=2.584	GT:AD:DP:GQ:PL	0/1:21,25:46:99:855,0,673	6	0	1	0
chr14	35266854	35266854	G	A	exonic	PRORP	.	nonsynonymous SNV	PRORP:NM_001256681:exon4:c.G287A:p.S96N,PRORP:NM_001256678:exon5:c.G1355A:p.S452N,PRORP:NM_001256680:exon5:c.G287A:p.S96N,PRORP:NM_001256679:exon6:c.G1118A:p.S373N,PRORP:NM_014672:exon6:c.G1403A:p.S468N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.00897788840165	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	0.10553	T	0.326	0.19660	T	0.118	0.30426	B	0.055	0.28435	B	0.175795	0.17242	N	0.626027	0.99757	0.23867	N	.	.	.	0.89	0.46412	T	-0.38	0.13418	N	0.115	0.13055	-1.0631	0.10997	T	0.067	0.27640	T	10	0.15748596	0.29636	T	0.008978	0.23655	T	0.080	0.23350	0.444	0.50139	0.444102476654	0.44032	0.2676080784523715	0.26673	0.172905930735	0.19474	0.250805079937	0.03853	T	0.001427	0.11608	T	-0.300155	0.08646	T	-0.668929	0.07678	T	0.1956597417593	0.20173	T	0.573243	0.20534	T	0.17189379	0.37850	0.17146575	0.39331	0.17189379	0.37849	0.17146575	0.39330	-3.551	0.20268	T	0.11819742244685068	0.10880	0.139	0.30344	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.891646	0.24027	16.24	0.97124348369513969	0.32469	0.59726	0.30995	D	AEFBI	0.163347	0.28963	N	-0.243787956237347	0.31352	1.757093	-0.133540156514549	0.34048	1.954219	0.00290720530677382	0.09788	0.706298	0.61202	0	0.724815	0.89359	0	0.644132	0.48003	0	0.613276	0.41899	0	.	.	5.52	1.1	0.19578	2.614000	0.46024	1.423000	0.26381	0.676000	0.76740	1.000000	0.71638	0.001000	0.17328	0.983000	0.59808	0.4353:0.1907:0.374:0.0	3.647	0.07728	432	0.80690	.;.;.;Protein-only RNase P, C-terminal;.;.;Protein-only RNase P, 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	.	.	.	.	.	.	.	.	0.07143	1192.46	33	chr14	35266854	.	G	A	1192.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.377;DP=287;ExcessHet=0;FS=0.811;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.29;ReadPosRankSum=0.245;SOR=0.852	GT:AD:DP:GQ:PL	0/1:49,48:97:99:1203,0,1216	6	0	1	0
chr14	36676444	36676444	G	A	exonic	PAX9	.	nonsynonymous SNV	PAX9:NM_001372076:exon4:c.G1018A:p.A340T,PAX9:NM_006194:exon5:c.G1018A:p.A340T	Tooth agenesis, selective, 3, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.390	0.0710969082207	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	2.725e-06	0	1.159e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.993e-07	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.02	0.58613	D	0.251	0.31212	B	0.01	0.14941	B	0.005833	0.32475	N	0.347897	0.979336	0.39551	D	1.735	0.44892	L	-5.33	0.98998	D	-0.39	0.13611	N	0.131	0.12627	0.892	0.95569	D	0.921	0.97389	D	10	0.19645229	0.35537	T	0.071097	0.71180	D	0.390	0.70603	0.131	0.03577	0.941386099767	0.94078	0.312312602041644	0.31144	0.301522529725	0.32488	0.617408692837	0.55362	T	0.207539	0.56721	T	0.161903	0.70377	D	-0.00521434	0.69997	D	0.846450328826904	0.49862	D	0.877312	0.59062	D	0.13061231	0.30472	0.16402745	0.38019	0.13061231	0.30471	0.16402745	0.38018	-5.833	0.44861	T	.	.	0.120	0.27583	B	.;.	.;.	3.413460	0.47364	22.4	0.99874552318627119	0.95160	0.97405	0.74540	D	AEFDBHI	.	.	.	0.158514482019403	0.49215	3.124469	0.290451553820386	0.54982	3.661706	0.999999998859051	0.74766	0.549168	0.22868	0	0.573888	0.26702	0	0.378051	0.06126	2	0.616125	0.45549	0	.	.	6.16	6.16	0.99302	5.776000	0.68576	11.895000	0.99196	0.676000	0.76740	0.996000	0.39380	1.000000	0.68203	0.036000	0.13842	0.0:0.0:1.0:0.0	19.040	0.92976	887	0.27948	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1282.63	34	chr14	36676444	.	G	A	1282.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.58;DP=280;ExcessHet=0;FS=1.629;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.1;ReadPosRankSum=-1.341;SOR=0.881	GT:AD:DP:GQ:PL	0/1:57,49:106:99:1293,0,1368	6	0	1	0
chr14	44505886	44505886	G	C	exonic	FSCB	.	nonsynonymous SNV	FSCB:NM_032135:exon1:c.C1102G:p.L368V	.	426	1091	4	0	1	5	0.00182983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00247035547921	0.0008	.	0.0011	0.0001	0.0003	0	0.0005	0.0018	0	0.0002	0.0010802	167	154602	rs143087159	0.0016	0.0016	0.0016	0.0016	0.0019	0.0015	0.0015	0.0019	0.0018	0.0003	0.0004	0	0	0.0013	0.0005	0.0019	0.0012	0.0003	0.0009	0.0009	0.0010	0.0009	0.0015	0.0008	0.0007	0.0013	0.0012	0.0004	0	0.0006	0	0	0.0006	0	0.0015	0.0005	0.0004	0.087	0.32453	T	0.506	0.10967	T	0.612	0.39723	P	0.128	0.32786	B	.	.	.	.	1	0.08975	N	1.04	0.26193	L	2.64	0.12780	T	-0.12	0.08809	N	0.057	0.02861	-1.0238	0.22476	T	0.016	0.06664	T	9	0.010329932	0.00230	T	0.00247	0.04896	T	0.019	0.03383	.	.	0.0611884634855	0.05136	0.028769811733158224	0.02826	0.0258931976221	0.02646	0.232557028532	0.02163	T	0.002343	0.01739	T	-0.680186	0.00048	T	-0.756293	0.03247	T	0.00563874128254933	0.00062	T	0.234177	0.03217	T	0.03601719	0.04350	0.0362251	0.03027	0.03601719	0.04350	0.0362251	0.03027	-7.27	0.55982	T	.	.	0.113	0.22464	B	.	.	0.737655	0.11067	7.721	0.78255476849396854	0.12222	0.08083	0.14055	N	AEFDHCI	0.062111	0.11920	N	-1.26468519479613	0.04109	0.1848205	-1.43899515310588	0.02871	0.1328791	0.67203018515458	0.22385	0.55562	0.30534	0	0.573888	0.26702	0	0.68496	0.61776	0	0.564101	0.26826	0	.	.	4.99	-7.66	0.01137	-0.195000	0.09546	0.271000	0.16657	-0.285000	0.06363	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0881:0.4658:0.1321:0.314	4.667	0.12053	948	0.11499	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	1112.63	43	chr14	44505886	.	G	C	1112.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.358;DP=329;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.91;ReadPosRankSum=0.543;SOR=0.636	GT:AD:DP:GQ:PL	0/1:35,45:80:99:1123,0,826	6	0	1	0
chr14	50114365	50114365	C	T	exonic	VCPKMT	.	nonsynonymous SNV	VCPKMT:NM_001040662:exon4:c.G490A:p.G164R,VCPKMT:NM_024558:exon4:c.G490A:p.G164R	.	607	913	2	0	0	2	0.00109409	.	.	.	3345497	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.366	0.0507046339229	.	0.000199681	1.972e-05	0	0.0001	0	0	0	0	6.75e-05	1.94e-05	3	154602	rs181887490	1.05e-05	1.437e-05	1.251e-05	8.46e-06	0.0002	6.31e-06	5e-06	8.54e-06	3.2e-06	3.121e-05	2.533e-05	0	5.157e-05	1.896e-05	0.0002	6.373e-06	0	2.549e-05	1.971e-05	2.625e-05	1.285e-05	2.688e-05	6.541e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	6.541e-05	0	0	0	0	2.94e-05	0	0	0.012	0.54683	D	0.017	0.60337	D	0.999	0.77913	D	0.939	0.67449	D	0.013547	0.28806	U	0.000000	1	0.81001	D	2.185	0.61350	M	3.28	0.39223	T	-3.45	0.67589	D	0.89	0.89689	-0.8306	0.53263	T	0.220	0.58266	T	10	0.67976147	0.71208	D	0.050705	0.64354	D	0.366	0.68582	0.537	0.64730	0.515771540734	0.51220	0.858762907211899	0.85839	0.0232111959726	0.02356	0.637236952782	0.58172	T	0.025216	0.18900	T	0.130211	0.67382	D	0.138999	0.79478	D	0.966407120227814	0.67572	D	0.950205	0.80929	D	0.71225935	0.78732	0.5853241	0.75953	0.71225935	0.78733	0.5853241	0.75954	-8.87	0.70160	D	.	.	0.369	0.61832	A	.;.	.;.	5.613711	0.92552	32	0.99937661062978211	0.99661	0.98400	0.82389	D	AEFBI	0.813596	0.73603	D	0.682657579163756	0.78495	6.883439	0.686904627506869	0.81384	7.514025	1.0	0.98316	0.651	0.46895	0	0.685571	0.66316	0	0.486962	0.07600	0	0.683762	0.67416	0	.	.	5.19	5.19	0.71428	7.503000	0.80474	7.639000	0.63104	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:1.0:0.0:0.0	19.077	0.93148	446	0.79659	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001515	0.000000	0.002717	0.000000	0.000000	0.000000	0.003067	0.000000	0.07143	249.63	20	chr14	50114365	.	C	T	249.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.335;DP=166;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.14;ReadPosRankSum=0.248;SOR=0.385	GT:AD:DP:GQ:PL	0/1:8,11:19:99:260,0,171	6	0	1	0
chr14	50247167	50247167	A	G	exonic	L2HGDH	.	nonsynonymous SNV	L2HGDH:NM_024884:exon10:c.T1283C:p.I428T	L-2-hydroxyglutaric aciduria, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	3539364	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.498	0.0888478191509	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1025426883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.025	0.56192	D	0.51	0.37313	P	0.579	0.50152	P	0.001303	0.39449	N	0.247642	0.998407	0.81001	D	2.175	0.60977	M	-1.24	0.78967	T	-3.59	0.69236	D	0.243	0.40565	-0.1745	0.78318	T	0.438	0.77727	T	10	0.413584	0.56390	T	0.088848	0.75213	D	0.498	0.78226	0.512	0.61000	0.857650482772	0.85627	0.6176417472545308	0.61697	0.573721100839	0.53415	0.403858482838	0.25605	T	0.396641	0.75522	T	0.0493316	0.58258	T	-0.166915	0.57726	T	0.998706579208374	0.94917	D	0.80002	0.44558	T	0.202501	0.42297	0.26097545	0.51868	0.202501	0.42297	0.26097545	0.51867	-6.584	0.50930	T	.	.	0.120	0.24666	B	.;.	.;.	4.124784	0.61682	24.4	0.99666678917998996	0.78330	0.98594	0.84485	D	AEFI	0.798137	0.72477	D	0.27448108424264	0.54860	3.650574	0.319570252763991	0.56691	3.832793	0.999999487332892	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.668105	0.65232	0	.	.	5.35	5.35	0.76297	9.290000	0.95109	7.441000	0.58873	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.558000	0.30364	1.0:0.0:0.0:0.0	15.311	0.73738	408	0.82256	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.07143	1593.44	33	chr14	50247167	.	A	G	1593.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.326;DP=335;ExcessHet=0;FS=5.131;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.63;ReadPosRankSum=0.846;SOR=0.619	GT:AD:DP:GQ:PL	0/1:69,68:137:99:1604,0,1655	6	0	1	0
chr14	51998518	51998518	C	T	exonic	RTRAF	.	nonsynonymous SNV	RTRAF:NM_016039:exon4:c.C311T:p.P104L	.	583	929	8	2	0	12	0.00641711	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178	0.00471137973843	0.0008	0.00139776	0.0017	0.0002	0.0006	0	0.0002	0.0011	0.0011	0.0073	0.0014812	229	154602	rs149288575	0.0012	0.0012	0.0009	0.0014	0.0121	0.0011	0.0011	0.0098	0.0090	0.0004	0.0007	0.0011	0	3.772e-05	0.0121	0.0008	0.0015	0.0070	0.0008	0.0008	0.0007	0.0009	0.0073	0.0007	0.0006	0.0054	0.0047	9.637e-05	0	0.0005	0.0009	0	0	0.0068	0.0010	0.0019	0.0073	0.048	0.50132	D	0.067	0.64786	T	0.734	0.42776	P	0.183	0.35961	B	0.000000	0.84330	N	0.090614	1	0.81001	D	.	.	.	.	.	.	-1.92	0.60188	N	0.256	0.30687	-0.8519	0.51837	T	0.174	0.51690	T	9	0.008100778	0.00184	T	0.004711	0.11722	T	0.178	0.44724	.	.	0.306606720791	0.30265	0.40050237559984214	0.39965	0.169844441891	0.19151	.	.	.	0.088205	0.38109	T	-0.37654	0.03275	T	-0.310482	0.43606	T	0.0267565178973074	0.01509	T	0.739426	0.37414	T	0.18067695	0.39200	0.16869712	0.38849	0.18067695	0.39200	0.16869712	0.38848	-3.079	0.11056	T	.	.	0.131	0.42877	B	.;.;.	.;.;.	3.599196	0.50833	23.0	0.99571419932803429	0.72440	0.92850	0.56698	D	AEFBHCI	0.784571	0.71522	D	0.204219409761435	0.51404	3.321856	0.278176192109593	0.54267	3.592265	0.999999984033858	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	6.03	5.14	0.70008	3.822000	0.55408	5.961000	0.51824	0.594000	0.32500	0.938000	0.32564	0.970000	0.29701	0.999000	0.91618	0.0:0.9329:0.0:0.0671	15.227	0.73050	888	0.27761	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009063	0.000000	0.012228	0.008772	0.000000	0.017241	0.003049	0.018939	0.07143	667.53	33	chr14	51998518	.	C	T	667.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.616;DP=221;ExcessHet=0;FS=1.088;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.35;ReadPosRankSum=-0.812;SOR=0.511	GT:AD:DP:GQ:PL	0/1:22,28:50:99:678,0,498	6	0	1	0
chr14	58133226	58133226	C	A	exonic	ARMH4	.	nonsynonymous SNV	ARMH4:NM_001001872:exon3:c.G1485T:p.E495D,ARMH4:NM_001320173:exon3:c.G1485T:p.E495D	.	426	1073	21	2	0	25	0.0115154	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.010809206987	0.0002	0.000798722	0.0009	0	0.0011	0	0	0.0010	0.0033	0.0020	0.0008861	137	154602	rs147981947	0.0007	0.0007	0.0006	0.0008	0.0059	0.0007	0.0006	0.0043	0.0038	0.0001	0.0009	0.0009	0	3.744e-05	0.0059	0.0006	0.0007	0.0023	0.0006	0.0006	0.0006	0.0007	0.0027	0.0005	0.0005	0.0016	0.0013	7.225e-05	0.0011	0.0009	0.0009	0	0	0	0.0008	0.0038	0.0027	0.035	0.43708	D	0.101	0.38596	T	0.971	0.57185	D	0.721	0.54900	P	0.012483	0.29156	N	0.294052	0.847836	0.35172	D	.	.	.	1.86	0.24285	T	-2.46	0.53736	N	0.191	0.20925	-0.9336	0.43605	T	0.105	0.38390	T	10	0.009754986	0.00219	T	0.010809	0.27768	T	0.054	0.15330	0.155	0.05858	0.0551355673512	0.04727	0.044565284659814	0.04400	0.0780390423039	0.08785	.	.	.	0.038967	0.25026	T	-0.538043	0.00344	T	-0.552422	0.17093	T	0.0445649304134644	0.04522	T	0.454355	0.12956	T	0.117513396	0.27703	0.108159326	0.26050	0.117513396	0.27703	0.108159326	0.26049	-4.701	0.33416	T	.	.	0.121	0.25133	B	.	.	2.207759	0.28159	17.71	0.99629274163288084	0.75959	0.68157	0.33696	D	AEFGBI	0.202729	0.32929	N	0.163183261700615	0.49437	3.144204	0.0975631311440947	0.44426	2.724604	0.999977659090372	0.50053	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	5.59	4.7	0.58776	1.982000	0.40260	0.212000	0.15973	0.599000	0.40250	0.718000	0.28801	0.000000	0.08366	0.017000	0.10941	0.0:0.9025:0.0:0.0975	9.598	0.38752	868	0.31772	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.005051	0.004076	0.000000	0.000000	0.000000	0.000000	0.011364	0.07143	1399.49	33	chr14	58133226	.	C	A	1399.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.17;DP=304;ExcessHet=0;FS=2.282;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.11;ReadPosRankSum=-1.043;SOR=0.503	GT:AD:DP:GQ:PL	0/1:68,58:126:99:1410,0,1579	6	0	1	0
chr14	58138194	58138194	A	G	exonic	ARMH4	.	nonsynonymous SNV	ARMH4:NM_001001872:exon2:c.T1165C:p.S389P,ARMH4:NM_001320173:exon2:c.T1165C:p.S389P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.182	0.00991569293664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.46129	D	0.003	0.76473	D	0.989	0.62824	D	0.885	0.62825	P	0.214351	0.16289	N	0.566984	1	0.08975	N	.	.	.	1.68	0.27184	T	-2.49	0.54217	N	0.17	0.18103	-1.0535	0.13440	T	0.102	0.37568	T	10	0.1590898	0.29900	T	0.009916	0.25833	T	0.182	0.45420	0.374	0.38667	0.0666544352282	0.05500	0.13696643335137432	0.13620	0.121842658127	0.13733	.	.	.	0.025561	0.19086	T	-0.0273703	0.47799	T	-0.277092	0.47102	T	0.522264003753662	0.33449	D	0.49655	0.15423	T	0.24250986	0.47179	0.2958181	0.55614	0.24250986	0.47179	0.2958181	0.55613	-4.12	0.25584	T	.	.	0.088	0.11749	B	.	.	1.334307	0.17401	13.14	0.99607788779664785	0.74634	0.04756	0.10462	N	AEFGBCI	0.103078	0.20660	N	-0.222407257448638	0.32215	1.814444	-0.420636230168889	0.24392	1.335448	0.999940150298763	0.47345	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.620846	0.47308	0	.	.	5.86	2.08	0.26079	0.156000	0.16200	1.252000	0.25176	0.751000	0.87719	0.001000	0.13787	0.087000	0.22477	0.167000	0.20881	0.4904:0.4346:0.075:0.0	7.430	0.26296	875	0.30485	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	59.44	33	chr14	58138194	.	A	G	59.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.802;DP=299;ExcessHet=0;FS=50.002;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=0.51;ReadPosRankSum=0.069;SOR=4.399	GT:AD:DP:GQ:PL	0/1:98,18:116:70:70,0,2290	6	0	1	0
chr14	64158707	64158707	T	C	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_015180:exon86:c.T15875C:p.M5292T,SYNE2:NM_182914:exon86:c.T15875C:p.M5292T	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.00538161103081	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1245310548	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.57e-06	6.566e-06	0	1.345e-05	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.099	0.45039	T	0.026	0.60972	D	0.013	0.16609	B	0.009	0.14300	B	0.041119	0.23984	N	0.401918	0.999988	0.54805	D	1.655	0.42436	L	1.39	0.33842	T	-2.65	0.59710	D	0.474	0.55280	-1.0841	0.06572	T	0.073	0.29675	T	10	0.19718808	0.35641	T	0.005382	0.13801	T	0.143	0.38195	0.536	0.64585	0.319402600006	0.31557	0.3253330187294607	0.32446	0.0539322971594	0.05956	0.529864430428	0.43015	T	0.035396	0.50140	T	-0.123387	0.32572	T	-0.415013	0.31648	T	0.172842237501572	0.18771	T	0.611639	0.23235	T	0.08136348	0.18690	0.15216553	0.35812	0.08136348	0.18690	0.15216553	0.35811	-3.679	0.21014	T	.	.	0.191	0.41000	B	.;.;.;.;.	.;.;.;.;.	1.354212	0.17625	13.27	0.893201424526746	0.18696	0.58238	0.30589	D	AEFGBI	0.052091	0.09265	N	-0.429603788888434	0.24437	1.31946	-0.336983711819935	0.26915	1.489921	0.0805734006329366	0.15850	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.645948	0.59608	0	.	.	5.77	3.35	0.37468	0.797000	0.26660	0.426000	0.18273	0.661000	0.55757	1.000000	0.71638	0.995000	0.32472	1.000000	0.97212	0.0:0.0746:0.1466:0.7788	7.200	0.25051	540	0.73006	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3571	1374.13	79	chr14	64158707	.	T	C	1374.13	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-2.054;DP=715;ExcessHet=4.7409;FS=173.002;MLEAC=5;MLEAF=0.357;MQ=60;MQRankSum=0;QD=3.05;ReadPosRankSum=1.38;SOR=10.021	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:69,26:95:99:0|1:64158707_T_C:377,0,2011:64158707	2	0	5	0
chr14	64158708	64158708	G	A	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_015180:exon86:c.G15876A:p.M5292I,SYNE2:NM_182914:exon86:c.G15876A:p.M5292I	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2288662	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.077	0.00845025875398	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.45039	D	0.033	0.53072	D	0.325	0.33132	B	0.108	0.31289	B	0.041119	0.23984	N	0.401918	1	0.81001	D	2.35	0.67516	M	1.39	0.33842	T	-1.61	0.43524	N	0.431	0.49965	-1.0717	0.09043	T	0.088	0.33968	T	10	0.25304455	0.42666	T	0.00845	0.22357	T	0.077	0.22490	0.515	0.61459	0.404034981753	0.40020	0.2659272823830213	0.26505	0.0746054716563	0.08373	0.455664932728	0.32718	T	0.114551	0.49765	T	-0.102013	0.36092	T	-0.384311	0.35217	T	0.684482932090759	0.39994	D	0.879912	0.59649	D	0.19624485	0.41445	0.17938405	0.40669	0.19624485	0.41444	0.17938405	0.40668	-3.183	0.12274	T	.	.	0.388	0.58884	A	.;.;.;.;.	.;.;.;.;.	2.504241	0.32334	19.01	0.96935941736678333	0.31676	0.86357	0.45621	D	AEFGBI	0.264582	0.38189	N	-0.124265557851592	0.36337	2.099065	-0.0236316895668092	0.38649	2.280163	0.900501724960891	0.26077	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.645948	0.59608	0	.	.	5.77	4.86	0.62624	4.416000	0.59567	4.462000	0.43463	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.8511:0.1489	14.318	0.66020	540	0.73006	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	1271.28	79	chr14	64158708	.	G	A	1271.28	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-4.023;DP=596;ExcessHet=4.7409;FS=185.58;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=2.83;ReadPosRankSum=-0.124;SOR=9.346	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:69,26:95:99:0|1:64158707_T_C:377,0,2011:64158707	3	0	4	0
chr14	64487965	64487965	A	G	exonic	ZBTB25	.	nonsynonymous SNV	ZBTB25:NM_001354683:exon3:c.T266C:p.I89T,ZBTB25:NM_006977:exon3:c.T266C:p.I89T,ZBTB25:NM_001354682:exon4:c.T383C:p.I128T,ZBTB25:NM_001354684:exon4:c.T266C:p.I89T,ZBTB25:NM_001354687:exon4:c.T266C:p.I89T,ZBTB25:NM_001354685:exon5:c.T266C:p.I89T,ZBTB25:NM_001304507:exon6:c.T266C:p.I89T,ZBTB25:NM_001354686:exon6:c.T266C:p.I89T	.	435	1079	8	0	0	8	0.00369344	.	.	.	3191457	ZBTB25-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.050	.	0.0006	0.0207668	0.0122	0.0011	0.0801	0.0551	0	0.0004	0.0132	0.0017	0.0117334	1814	154602	rs61742301	0.0048	0.0048	0.0051	0.0044	0.0703	0.0047	0.0046	0.0683	0.0674	0.0007	0.0703	0.0017	0.0694	0.0001	0.0005	0.0004	0.0062	0.0023	0.0065	0.0065	0.0061	0.0069	0.0553	0.0062	0.0060	0.0501	0.0480	0.0008	0	0.0387	0.0006	0.0553	0.0002	0.0034	0.0004	0.0114	0.0044	0.402	0.10412	T	0.74	0.04982	T	0.0	0.02946	B	0.0	0.01387	B	0.017907	0.27608	N	0.464271	1	0.81001	D	-0.13	0.04535	N	-0.17	0.65563	T	0.64	0.02368	N	0.056	0.16864	-1.0758	0.08184	T	0.009	0.03271	T	10	0.0014448166	0.00016	T	.	.	.	0.050	0.13987	.	.	.	.	0.30281557337643705	0.30194	0.092142033829	0.10406	0.409656494856	0.26409	T	0.109887	0.42413	T	-0.537796	0.00345	T	-0.488578	0.23539	T	0.00175813752067324	0.00018	T	0.737626	0.35462	T	0.030307781	0.02671	0.0388179	0.03834	0.030307781	0.02671	0.0388179	0.03833	-4.807	0.34673	T	.	.	0.056	0.00496	B	.;.	.;.	1.130956	0.15173	11.65	0.82194834087480895	0.14067	0.45070	0.27457	N	AEFDGBI	.	.	.	-0.729703419562042	0.15190	0.7633885	-0.533005535422154	0.21258	1.149211	0.440204550643908	0.20447	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.92	0.421	0.15669	1.085000	0.30452	2.913000	0.35519	0.756000	0.94297	0.609000	0.27821	1.000000	0.68203	1.000000	0.97212	0.4002:0.4684:0.1314:0.0	5.959	0.18524	371	0.84287	BTB/POZ domain|BTB/POZ domain;BTB/POZ domain|BTB/POZ domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003021	0.000000	0.000000	0.000000	0.000000	0.008621	0.006098	0.011364	0.07143	2207.44	33	chr14	64487965	.	A	G	2207.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.189;DP=346;ExcessHet=0;FS=1.236;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.71;ReadPosRankSum=-2.006;SOR=0.712	GT:AD:DP:GQ:PL	0/1:72,89:161:99:2218,0,1716	6	0	1	0
chr14	69572446	69572446	G	C	exonic	CCDC177	.	nonsynonymous SNV	CCDC177:NM_001271507:exon2:c.C1177G:p.R393G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.236986995359	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1332448329	5.569e-06	4.104e-06	5.275e-06	5.897e-06	0.0001	2e-06	1.32e-06	3.6e-07	1.4e-07	4.381e-05	0.0001	0	0	0	0	2.177e-06	4.598e-05	0	1.317e-05	1.313e-05	2.578e-05	0	4.819e-05	2.19e-06	8.2e-07	7.99e-06	2.99e-06	4.819e-05	0	0	0	0	0	0	0	0	0	.	.	.	0.007	0.69154	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.975	0.24501	L	1.62	0.28189	T	.	.	.	0.238	0.26837	.	.	.	.	.	.	.	0.18625158	0.34081	T	0.236987	0.88524	D	.	.	.	.	0.54351673446	0.54005	0.039931400418083095	0.03939	.	.	0.922233521938	0.98489	D	0.039806	0.25315	T	-0.21067	0.19284	T	-0.540389	0.18257	T	.	.	.	0.549745	0.18930	T	0.124829285	0.29278	0.27792037	0.53748	0.124829285	0.29278	0.27792037	0.53747	-6.376	0.49322	T	.	.	0.176	0.38552	B	.	.	2.901980	0.38468	20.7	0.40394992024458909	0.02848	0.33573	0.24860	N	AEFDGBHCI	0.227677	0.35145	N	.	.	.	.	.	.	0.999688140919835	0.41756	0.59774	0.34471	0	0.596491	0.49125	0	0.503968	0.08637	0	0.554799	0.18163	0	.	.	3.78	-0.426	0.11700	0.889000	0.27917	4.744000	0.44622	-0.348000	0.05616	0.128000	0.23311	1.000000	0.68203	0.623000	0.31974	0.0737:0.1123:0.4651:0.3489	5.152	0.14344	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	.	.	.	.	.	.	.	.	0.08333	395.27	9	chr14	69572446	.	G	C	395.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.024;DP=138;ExcessHet=0;FS=1.494;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.18;ReadPosRankSum=0.021;SOR=0.412	GT:AD:DP:GQ:PL	0/1:14,16:30:99:405,0,383	5	0	1	1
chr14	73514100	73514100	C	T	exonic	HEATR4	.	nonsynonymous SNV	HEATR4:NM_203309:exon5:c.G1345A:p.E449K,HEATR4:NM_001220484:exon6:c.G1345A:p.E449K	.	430	1087	5	0	0	5	0.00229463	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.00524578738904	0.0002	0.000399361	0.0002	9.61e-05	0.0002	0	0	0.0002	0.0022	0.0005	0.0001876	29	154602	rs138823359	0.0002	0.0002	0.0002	0.0002	0.0062	0.0002	0.0001	0.0046	0.0041	0	0.0003	0.0008	0	0	0.0062	0.0001	0.0005	0.0004	0.0003	0.0003	0.0002	0.0003	0.0008	0.0002	0.0002	0.0004	0.0003	9.62e-05	0	0.0007	0.0012	0	0	0	0.0002	0.0014	0.0008	0.132	0.26519	T	0.061	0.45530	T	0.11	0.26188	B	0.024	0.20255	B	0.071082	0.21496	N	0.439598	1	0.08975	N	1.975	0.53506	M	1.82	0.25018	T	-0.87	0.23590	N	0.177	0.19055	-1.0369	0.18264	T	0.040	0.17020	T	10	0.023305357	0.00606	T	0.005246	0.13371	T	0.067	0.19503	.	.	0.0401082797425	0.02173	0.4912028566193218	0.49041	0.133712803413	0.15057	0.351421028376	0.18131	T	0.010591	0.09546	T	-0.472828	0.00816	T	-0.57423	0.15064	T	0.0199229771252514	0.00693	T	0.715328	0.32778	T	0.09643127	0.22714	0.076081425	0.16814	0.09643127	0.22714	0.076081425	0.16814	-2.658	0.06957	T	.	.	0.111	0.23077	B	.;.	.;.	1.238026	0.16335	12.47	0.97639163413217311	0.35068	0.06721	0.12742	N	AEFGI	0.061298	0.11708	N	-0.737560374931955	0.14973	0.7505426	-0.730327389583934	0.16207	0.8562703	0.106292926749588	0.16525	0.614807	0.35715	0	0.573888	0.26702	0	0.616094	0.41390	0	0.613276	0.41899	0	.	.	5.78	3.96	0.45097	0.462000	0.21667	1.783000	0.28733	0.599000	0.40250	0.000000	0.06391	0.613000	0.25778	0.002000	0.04165	0.1519:0.6894:0.0:0.1587	5.983	0.18650	277	0.89083	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.000000	0.004076	0.014620	0.050000	0.000000	0.000000	0.000000	0.07143	1371.53	36	chr14	73514100	.	C	T	1371.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.463;DP=289;ExcessHet=0;FS=3.625;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.94;ReadPosRankSum=0.359;SOR=0.411	GT:AD:DP:GQ:PL	0/1:47,59:106:99:1382,0,1113	6	0	1	0
chr14	74904932	74904932	G	T	exonic	RPS6KL1	.	nonsynonymous SNV	RPS6KL1:NM_001370257:exon8:c.C812A:p.T271N,RPS6KL1:NM_001370258:exon8:c.C722A:p.T241N,RPS6KL1:NM_001370252:exon11:c.C1607A:p.T536N,RPS6KL1:NM_001370255:exon11:c.C1012A:p.L338M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00119808	.	.	.	.	.	.	.	.	0.0013447	35	26028	rs189688925	0	6.521e-05	0	0	.	0	0	.	.	.	.	.	0	0	.	0	0	.	0.0013	0.0013	0.0013	0.0012	0.0056	0.0011	0.0011	0.0039	0.0034	0.0002	0.0022	0.0008	0.0084	0.0002	0	0	0.0015	0.0024	0.0056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	32.99	.	chr14	74904932	.	G	T	32.99	.	AC=1;AF=0.25;AN=4;BaseQRankSum=0;DP=6;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.25;ReadPosRankSum=1.38;SOR=0.693	GT:AD:DP:GQ:PL	0/1:2,2:4:37:37,0,37	1	0	1	5
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	.	.	.	.	.	.	.	.	0.3333	179.76	98	chr14	78297852	.	G	A	179.76	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-3.871;DP=784;ExcessHet=3.1439;FS=249.645;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=0.31;ReadPosRankSum=0.689;SOR=10.919	GT:AD:DP:GQ:PL	0/1:97,41:139:71:71,0,1354	2	0	4	1
chr14	89953914	89953914	G	A	exonic	EFCAB11	.	nonsynonymous SNV	EFCAB11:NM_001284266:exon2:c.C163T:p.P55S,EFCAB11:NM_001284267:exon2:c.C19T:p.P7S,EFCAB11:NM_001284268:exon2:c.C91T:p.P31S,EFCAB11:NM_001284269:exon2:c.C91T:p.P31S,EFCAB11:NM_145231:exon2:c.C163T:p.P55S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.405	0.0540513151503	.	.	3.304e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs753215655	2.053e-05	2.121e-05	1.362e-05	2.752e-05	0.0002	1.457e-05	1.264e-05	0.0001	0.0001	0	2.237e-05	0	0	0	0	1.079e-05	0	0.0002	1.314e-05	1.313e-05	0	2.691e-05	0.0004	2.18e-06	8.2e-07	7.285e-05	3.027e-05	0	0	0	0	0	0	0	0	0	0.0004	0.083	0.33091	T	0.407	0.27145	T	0.997	0.70673	D	0.861	0.62758	P	0.000029	0.55875	D	0.071292	0.999995	0.81001	D	2.555	0.74557	M	1.84	0.69896	T	-6.4	0.92476	D	0.439	0.48780	0.131	0.84724	D	0.537	0.82887	D	10	0.37422943	0.53708	T	0.054051	0.65709	D	0.405	0.71791	0.566	0.68768	0.900847592122	0.89986	0.7736344208438598	0.77313	0.299086279298	0.32277	0.517496228218	0.41273	T	0.119218	0.44059	T	-0.118729	0.33332	T	-0.116174	0.62115	T	0.614480053146061	0.36981	D	0.844815	0.55914	T	0.3268904	0.55216	0.5020357	0.71214	0.3268904	0.55216	0.5020357	0.71214	-10.061	0.75377	D	.	.	0.944	0.86333	P	.;.;.;.;.	.;.;.;.;.	5.177318	0.86797	29.0	0.99883259435274541	0.95892	0.92595	0.56081	D	AEFBHCI	0.947267	0.95763	D	0.906480910837344	0.92073	11.21877	0.887358964334219	0.94999	13.22143	0.999999999999376	0.74766	0.660085	0.49399	0	0.685571	0.66316	0	0.662677	0.59975	0	0.627883	0.49187	0	.	.	5.8	5.8	0.92081	7.595000	0.81968	11.695000	0.94414	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.055	0.97644	960	0.08626	EF-hand 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	.	.	.	.	.	.	.	.	0.1429	859.29	16	chr14	89953914	.	G	A	859.29	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.747;DP=175;ExcessHet=0.3476;FS=2.044;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=12.83;ReadPosRankSum=0;SOR=0.472	GT:AD:DP:GQ:PL	0/1:7,12:19:99:298,0,164	5	0	2	0
chr14	90301265	90301265	C	T	exonic	NRDE2	.	nonsynonymous SNV	NRDE2:NM_017970:exon7:c.G1519A:p.V507M	.	428	1069	25	0	0	25	0.011558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.287	.	0.0051	0.00479233	0.0047	0.0011	0.0029	0	0.0012	0.0062	0.0077	0.0063	0.004683	724	154602	rs79341977	0.0063	0.0063	0.0062	0.0064	0.0073	0.0062	0.0061	0.0072	0.0071	0.0012	0.0029	3.828e-05	7.557e-05	0.0006	0.0054	0.0073	0.0054	0.0057	0.0041	0.0041	0.0045	0.0038	0.0072	0.0039	0.0038	0.0067	0.0065	0.0015	0	0.0027	0	0	0.0003	0	0.0072	0.0014	0.0054	0.004	0.65419	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000001	0.84330	D	0.000000	0.999999	0.58761	D	2.435	0.70606	M	1.31	0.35405	T	-0.86	0.36385	N	0.676	0.68342	-0.7888	0.55800	T	0.160	0.49463	T	10	0.008894891	0.00201	T	.	.	.	0.287	0.60574	.	.	0.647120189699	0.64419	0.5391645190508904	0.53841	0.396982738473	0.40801	0.526302278042	0.42514	T	0.01487	0.12581	T	-0.28588	0.10053	T	-0.178296	0.56681	T	0.0269564637618081	0.01537	T	0.956304	0.86183	D	0.17649929	0.38565	0.16566095	0.38311	0.17649929	0.38565	0.16566095	0.38311	-8.343	0.63384	D	.	.	0.259	0.53868	B	.;.	.;.	3.938548	0.57613	23.9	0.99892803870728586	0.96666	0.97628	0.76007	D	AEFDBCI	0.536387	0.55462	D	0.33904798678388	0.58165	3.987117	0.288415224318062	0.54861	3.650076	0.999999938239116	0.74766	0.660377	0.49826	0	0.653731	0.59785	0	0.696353	0.63694	0	0.662433	0.64102	0	.	.	5.8	4.91	0.63897	4.727000	0.61687	4.802000	0.44976	-0.187000	0.09635	1.000000	0.71638	1.000000	0.68203	0.170000	0.20979	0.0:0.873:0.127:0.0	17.052	0.86394	926	0.17793	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002554	0.000000	0.000000	0.000000	0.000000	0.000000	0.009615	0.007634	0.1429	2276.25	41	chr14	90301265	.	C	T	2276.25	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.637;DP=296;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=16.03;ReadPosRankSum=-0.145;SOR=0.713	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:20,33:53:99:0|1:90301263_C_T:1278,0,740:90301263	5	0	2	0
chr14	91189114	91189114	T	G	exonic	DGLUCY	.	nonsynonymous SNV	DGLUCY:NM_001102368:exon9:c.T1139G:p.V380G,DGLUCY:NM_001286471:exon9:c.T1124G:p.V375G,DGLUCY:NM_001358310:exon9:c.T1139G:p.V380G,DGLUCY:NM_001358311:exon9:c.T1124G:p.V375G,DGLUCY:NM_001358312:exon9:c.T1139G:p.V380G,DGLUCY:NM_024952:exon9:c.T1124G:p.V375G,DGLUCY:NM_001102367:exon10:c.T1124G:p.V375G,DGLUCY:NM_001102366:exon11:c.T1124G:p.V375G,DGLUCY:NM_001102369:exon11:c.T1088G:p.V363G,DGLUCY:NM_001286472:exon11:c.T1139G:p.V380G,DGLUCY:NM_001286470:exon12:c.T1139G:p.V380G	.	438	1076	8	0	0	8	0.0037037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.263	.	0.0026	0.00299521	0.0028	0.0006	0.0007	0.0001	0.0002	0.0033	0.0044	0.0060	0.0028978	448	154602	rs117996584	0.0040	0.0040	0.0040	0.0040	0.0068	0.0039	0.0039	0.0057	0.0056	0.0006	0.0011	0.0004	0	0.0003	0.0068	0.0045	0.0033	0.0062	0.0024	0.0025	0.0026	0.0023	0.0079	0.0022	0.0022	0.0059	0.0052	0.0007	0	0.0013	0.0003	0	0.0002	0.0034	0.0040	0.0047	0.0079	0.336	0.72154	T	0.0	0.92824	D	0.956	0.55854	P	0.656	0.56720	P	0.001591	0.38554	N	0.222293	0.998077	0.22364	N	.	.	.	2.17	0.19020	T	-3.43	0.70191	D	0.615	0.63120	-1.0518	0.13899	T	0.086	0.33438	T	10	0.009162515	0.00207	T	.	.	.	0.263	0.57612	.	.	0.0666544352282	0.05500	0.732384980946259	0.73183	0.333904867392	0.35413	.	.	.	0.037924	0.42238	T	-0.26219	0.12645	T	-0.146366	0.59564	T	0.0383427643306126	0.03393	T	0.720728	0.34567	T	0.46552542	0.65015	0.29713967	0.55747	0.46552542	0.65015	0.29713967	0.55746	-3.446	0.51084	T	.	.	0.490	0.64113	A	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	3.039318	0.40744	21.2	0.9892021512324275	0.48546	0.86431	0.45710	D	AEFDGBI	0.226613	0.35053	N	-0.154837316406531	0.35030	2.006937	-0.309761585688304	0.27782	1.544095	0.949008624517521	0.27826	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.92	2.56	0.29842	2.014000	0.40571	3.606000	0.39238	-0.120000	0.14102	0.926000	0.32145	0.988000	0.31051	0.046000	0.14843	0.0:0.4214:0.0:0.5786	7.059	0.24292	917	0.20147	.;.;.;.;Domain of unknown function DUF4392;Domain of unknown function DUF4392;Domain of unknown function DUF4392;Domain of unknown function DUF4392;Domain of unknown function DUF4392;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005539	0.005051	0.005435	0.002924	0.100000	0.000000	0.000000	0.007576	0.07143	671.53	34	chr14	91189114	.	T	G	671.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.803;DP=242;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.78;ReadPosRankSum=-0.927;SOR=0.587	GT:AD:DP:GQ:PL	0/1:27,30:57:99:682,0,724	6	0	1	0
chr14	92941893	92941893	C	T	exonic	ITPK1	.	nonsynonymous SNV	ITPK1:NM_001363707:exon9:c.G556A:p.V186M,ITPK1:NM_001142593:exon11:c.G913A:p.V305M,ITPK1:NM_014216:exon11:c.G913A:p.V305M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.405	0.0109078414012	0.0002	.	3.887e-05	0.0001	0	0	0	5.272e-05	0	0	3.88e-05	6	154602	rs150211524	2.809e-05	2.805e-05	2.59e-05	3.03e-05	5.042e-05	2.09e-05	1.881e-05	2.371e-05	2.104e-05	0	0	0	5.042e-05	0	0	3.238e-05	3.314e-05	1.163e-05	4.595e-05	4.593e-05	5.139e-05	4.027e-05	7.351e-05	2.107e-05	1.526e-05	2.847e-05	1.858e-05	2.405e-05	0	0	0.0003	0	0	0	7.351e-05	0	0	0.086	0.39820	T	0.08	0.45961	T	1.0	0.90584	D	0.939	0.67449	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.085	0.27262	L	.	.	.	-1.22	0.35991	N	0.674	0.72031	-0.7034	0.60275	T	0.240	0.60762	T	9	0.6039257	0.67067	D	0.010908	0.27979	T	0.405	0.71791	.	.	0.373217324921	0.36936	0.8352184594217053	0.83481	0.926036099854	0.71641	0.689781904221	0.65674	T	0.184179	0.53676	T	-0.0183813	0.49085	T	-0.0645076	0.66016	T	0.552820026874542	0.34583	D	.	.	.	0.36285135	0.58052	0.25096673	0.50698	0.36285135	0.58053	0.25096673	0.50697	-11.133	0.80382	D	.	.	0.728	0.75652	P	.;.;.	.;.;.	5.415830	0.90635	31	0.99720593741260821	0.81984	0.99595	0.97811	D	AEFDBI	0.961856	0.98325	D	0.478183523521987	0.65818	4.87057	0.490394129076051	0.67352	5.072485	0.999999999999991	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.554053	0.18673	1	0.613276	0.41899	0	.	.	4.59	4.59	0.56297	7.552000	0.81138	7.549000	0.60236	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.844000	0.39860	0.0:1.0:0.0:0.0	17.42	0.87404	906	0.23090	ATP-grasp fold;ATP-grasp 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	.	.	.	.	.	.	.	.	0.1667	1700.92	26	chr14	92941893	.	C	T	1700.92	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.29;DP=235;ExcessHet=0.4139;FS=0.723;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=14.41;ReadPosRankSum=0.844;SOR=0.582	GT:AD:DP:GQ:PL	0/1:30,29:59:99:767,0,653	4	0	2	1
chr14	94379499	94379499	C	T	exonic	SERPINA1	.	nonsynonymous SNV	SERPINA1:NM_000295:exon4:c.G1030A:p.G344R,SERPINA1:NM_001002235:exon4:c.G1030A:p.G344R,SERPINA1:NM_001127700:exon4:c.G1030A:p.G344R,SERPINA1:NM_001127702:exon5:c.G1030A:p.G344R,SERPINA1:NM_001127706:exon5:c.G1030A:p.G344R,SERPINA1:NM_001127707:exon5:c.G1030A:p.G344R,SERPINA1:NM_001002236:exon6:c.G1030A:p.G344R,SERPINA1:NM_001127701:exon6:c.G1030A:p.G344R,SERPINA1:NM_001127703:exon6:c.G1030A:p.G344R,SERPINA1:NM_001127704:exon6:c.G1030A:p.G344R,SERPINA1:NM_001127705:exon6:c.G1030A:p.G344R	Emphysema due to AAT deficiency, Autosomal recessive;Emphysema-cirrhosis, due to AAT deficiency, Autosomal recessive;Hemorrhagic diathesis due to antithrombin Pittsburgh, Autosomal recessive	0	1518	4	0	0	4	0.00131579	.	.	YES	1836203	Inborn_genetic_diseases|Alpha-1-antitrypsin_deficiency	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013282,MedGen:C0221757,OMIM:613490,Orphanet:60	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.762	0.107581191031	7.7e-05	.	4.943e-05	0	0	0	0	8.993e-05	0	0	4.53e-05	7	154602	rs367797069	6.362e-05	6.43e-05	5.445e-05	7.288e-05	0.0002	5.294e-05	4.911e-05	9.791e-05	7.838e-05	0	0.0002	0	0	0	0.0002	6.205e-05	3.311e-05	0.0002	7.233e-05	8.534e-05	7.718e-05	6.726e-05	0.0002	3.974e-05	3.129e-05	2.848e-05	1.859e-05	2.412e-05	0	0.0001	0	0.0002	0	0	7.356e-05	0.0009	0	0.001	0.78490	D	0.023	0.57104	D	0.996	0.90584	D	0.911	0.65999	D	0.000002	0.62929	D	0.000000	0.99565	0.42792	D	2.98	0.85499	M	-2.57	0.89692	D	-7.6	0.95336	D	0.95	0.95841	0.691	0.93060	D	0.787	0.92768	D	10	0.94071347	0.93397	D	0.107581	0.78371	D	0.762	0.91920	0.72	0.85496	0.997593593938	0.99756	0.6274682892323759	0.62679	0.331718741098	0.35239	0.540324211121	0.44491	T	0.517516	0.83063	D	0.377458	0.88542	D	0.304416	0.88399	D	0.854418218135834	0.50550	D	0.683132	0.31438	T	0.83695054	0.86391	0.61359364	0.77513	0.72296965	0.79329	0.6122196	0.77439	-7.074	0.54573	T	0.4408309079602398	0.52636	0.250	0.55637	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	3.639281	0.51593	23.1	0.9988476834970712	0.96049	0.90770	0.52227	D	AEFDBHCI	0.868654	0.78887	D	0.408016156720055	0.61862	4.393195	0.270992260540872	0.53852	3.552	0.99999993837138	0.74766	0.553676	0.25195	0	0.610034	0.51514	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.38	4.5	0.54382	2.987000	0.49066	1.718000	0.28241	-0.173000	0.11020	0.876000	0.30908	0.028000	0.21151	0.020000	0.11549	0.0:0.915:0.0:0.085	11.494	0.49646	917	0.20147	Serpin domain|Serpin domain;Serpin domain|Serpin domain;Serpin domain|Serpin domain;Serpin domain|Serpin domain;Serpin domain|Serpin domain;Serpin domain|Serpin domain;Serpin domain|Serpin domain;Serpin domain|Serpin domain;Serpin domain|Serpin domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.008621	0.000000	0.000000	0.07143	838.49	59	chr14	94379499	.	C	T	838.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.21;DP=414;ExcessHet=0;FS=2.966;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.1;ReadPosRankSum=-0.695;SOR=1.03	GT:AD:DP:GQ:PL	0/1:49,34:83:99:849,0,1176	6	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	.	.	.	.	.	.	.	.	0.4	1661.77	55	chr14	94497802	.	C	T	1661.77	.	AC=4;AF=0.4;AN=10;BaseQRankSum=-0.85;DP=480;ExcessHet=3.1439;FS=488.847;MLEAC=5;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.4;ReadPosRankSum=0.495;SOR=10.1	GT:AD:DP:GQ:PL	0/1:54,31:85:99:378,0,1049	1	0	4	2
chr14	94619305	94619305	C	G	exonic	SERPINA3	.	nonsynonymous SNV	SERPINA3:NM_001085:exon3:c.C754G:p.P252A,SERPINA3:NM_001384672:exon3:c.C754G:p.P252A,SERPINA3:NM_001384673:exon4:c.C754G:p.P252A,SERPINA3:NM_001384674:exon4:c.C754G:p.P252A	Alpha-1-antichymotrypsin deficiency (3);Cerebrovascular disease, occlusive (3)	421	1100	1	0	0	1	0.000454339	.	.	.	33089	ANTICHYMOTRYPSIN_BONN_1|not_provided|Antichymotrypsin_deficiency-alpha-1|SERPINA3-related_disorder	.|MedGen:C3661900|MedGen:C0400965|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.491	0.0415625158125	0.0042	0.00119808	0.0030	0.0009	0.0017	0	0.0003	0.0050	0	6.058e-05	0.0033311	515	154602	rs17473	0.0047	0.0047	0.0049	0.0045	0.0059	0.0046	0.0046	0.0058	0.0057	0.0009	0.0012	0.0001	0	0.0008	0.0002	0.0059	0.0030	3.478e-05	0.0031	0.0031	0.0033	0.0029	0.0058	0.0028	0.0028	0.0053	0.0051	0.0010	0.0044	0.0012	0.0003	0	0.0008	0	0.0058	0.0009	0.0002	0.099	0.32296	T	0.485	0.16280	T	0.027	0.19556	B	0.027	0.21085	B	0.011790	0.29400	N	0.141188	1.8071e-08	0.08975	A	1.545	0.39105	L	-1.84	0.84195	D	-5.64	0.89401	D	0.183	0.19861	-0.5243	0.67756	T	0.344	0.70908	T	10	0.15218908	0.28751	T	0.041563	0.59997	D	0.491	0.77783	.	.	0.899046816885	0.89804	0.3037530640895957	0.30288	0.0357311131857	0.03767	0.294980973005	0.09655	T	0.543528	0.84413	D	-0.205706	0.19988	T	-0.0631321	0.66114	T	0.0128702099593095	0.00220	T	0.818618	0.49436	T	0.45429403	0.64313	0.49501038	0.70794	0.59981	0.72682	0.41646063	0.65729	-8.396	0.63739	D	0.4218836265072341	0.51053	0.176	0.45617	B	.;.;.;.;.	.;.;.;.;.	3.496232	0.48888	22.7	0.8228167767415755	0.14111	0.09213	0.15014	N	AEFGBCI	0.707685	0.66234	D	-0.470579749355237	0.23049	1.234991	-0.521754195269448	0.21562	1.167068	0.993770719796328	0.33350	0.554377	0.28877	0	0.573888	0.26702	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	4.66	3.75	0.42236	0.092000	0.14905	0.177000	0.15587	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.6059:0.211:0.183	4.277	0.10258	772	0.48957	Serpin domain|Serpin domain;Serpin domain|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	.	.	.	.	.	.	.	.	0.1667	2892.92	36	chr14	94619305	.	C	G	2892.92	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.854;DP=377;ExcessHet=0.4139;FS=0.998;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.31;ReadPosRankSum=1.6;SOR=0.778	GT:AD:DP:GQ:PL	0/1:52,54:106:99:1337,0,1224	4	0	2	1
chr14	96264403	96264403	G	A	exonic	BDKRB1	.	nonsynonymous SNV	BDKRB1:NM_000710:exon3:c.G721A:p.G241R	.	434	1052	36	0	0	36	0.0168224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	.	0.0025	0.00359425	0.0062	0.0003	0.0017	0	0.0029	0.0052	0.0155	0.0213	0.0053363	825	154602	rs45528332	0.0038	0.0038	0.0031	0.0044	0.0195	0.0037	0.0036	0.0188	0.0184	0.0003	0.0021	0.0120	2.519e-05	0.0018	0.0052	0.0027	0.0040	0.0195	0.0036	0.0036	0.0035	0.0037	0.0207	0.0034	0.0033	0.0174	0.0162	0.0004	0	0.0011	0.0153	0.0002	0.0018	0.0068	0.0049	0.0043	0.0207	0.1	0.30515	T	0.693	0.05863	T	0.926	0.51467	P	0.297	0.40924	B	0.254390	0.15442	N	0.633849	1	0.25321	N	0.895	0.22405	L	-0.53	0.70833	T	-0.78	0.21644	N	0.103	0.08646	-0.9401	0.42600	T	0.150	0.47717	T	10	0.004887551	0.00104	T	.	.	.	0.172	0.43662	0.523	0.62668	0.671674792424	0.66890	0.17369235007743314	0.17289	0.406064420184	0.41486	0.302673399448	0.10801	T	0.073267	0.34657	T	-0.46555	0.00907	T	-0.425251	0.30476	T	0.00979771209445082	0.00129	T	0.586341	0.21412	T	0.07508437	0.16893	0.07595928	0.16776	0.07508437	0.16893	0.07595928	0.16776	-2.949	0.09642	T	.	.	0.120	0.24733	B	.;.	.;.	2.631070	0.34213	19.56	0.99684065869996952	0.79440	0.12662	0.17404	N	AEFGBCI	.	.	.	-0.344884559445541	0.27461	1.506785	-0.347014161319572	0.26601	1.470419	0.999995329122686	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.04	5.04	0.67293	1.354000	0.33660	1.443000	0.26543	0.676000	0.76740	0.098000	0.22752	0.949000	0.28973	0.002000	0.04165	0.1869:0.0:0.8131:0.0	7.426	0.26275	976	0.04745	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009063	0.000000	0.006793	0.000000	0.000000	0.000000	0.015244	0.030303	0.1429	1665.65	37	chr14	96264403	.	G	A	1665.65	.	AC=2;AF=0.143;AN=14;BaseQRankSum=3.99;DP=279;ExcessHet=0.3476;FS=10.315;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=14.36;ReadPosRankSum=0.371;SOR=1.236	GT:AD:DP:GQ:PL	0/1:26,23:49:99:720,0,659	5	0	2	0
chr14	104098899	104098899	C	T	exonic	ASPG	.	nonsynonymous SNV	ASPG:NM_001080464:exon6:c.C560T:p.T187I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.192	0.0610338729263	8.1e-05	.	4.826e-05	0	0.0001	0	0	5.203e-05	0	6.997e-05	3.23e-05	5	154602	rs376822285	2.054e-05	2.052e-05	1.771e-05	2.34e-05	0.0005	1.457e-05	1.265e-05	0.0001	7.546e-05	0	2.239e-05	0	0	0	0.0005	2.159e-05	1.657e-05	1.161e-05	3.284e-05	3.283e-05	5.137e-05	1.344e-05	5.879e-05	1.26e-05	7.98e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0.0032	5.879e-05	0	0	0.334	0.19639	T	0.383	0.24334	T	1.0	0.90584	D	0.987	0.77487	D	0.000000	0.84330	U	0.000000	0.999952	0.52396	D	1.975	0.53506	M	1.83	0.24841	T	-2.4	0.52776	N	0.828	0.82964	-0.9457	0.41698	T	0.133	0.44603	T	10	0.72451127	0.73883	D	0.061034	0.68199	D	0.192	0.47115	.	.	0.52468985305	0.52114	0.8543466328567573	0.85397	0.526482578618	0.50275	0.744549751282	0.73642	T	0.094295	0.44305	T	-0.0620097	0.42591	T	-0.196398	0.54988	T	0.465208649635315	0.31356	T	0.982268	0.94010	D	0.41148257	0.61520	0.34246993	0.59972	0.41148257	0.61520	0.34246993	0.59972	-7.386	0.56806	T	.	.	0.291	0.52260	B	.;.	.;.	3.837213	0.55501	23.6	0.99269211055349349	0.57491	0.90744	0.52179	D	AEFDBI	0.852218	0.76912	D	0.293716802756929	0.55830	3.747058	0.238722957085308	0.52011	3.378922	0.999999926893828	0.74766	0.582742	0.33608	0	0.573888	0.26702	0	0.61531	0.40942	0	0.613276	0.41899	0	.	.	3.97	3.97	0.45241	5.552000	0.66986	7.298000	0.58079	0.545000	0.25583	1.000000	0.71638	1.000000	0.68203	0.266000	0.23669	0.0:1.0:0.0:0.0	14.813	0.69636	517	0.74620	L-asparaginase, N-terminal;L-asparaginase, 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	.	.	.	.	.	.	.	.	0.1429	1545.05	40	chr14	104098899	.	C	T	1545.05	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.378;DP=259;ExcessHet=0.3476;FS=1.478;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=13.21;ReadPosRankSum=0.153;SOR=0.533	GT:AD:DP:GQ:PL	0/1:31,31:62:99:769,0,725	5	0	2	0
chr14	104944175	104944175	G	A	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.C10976T:p.A3659V,AHNAK2:NM_138420:exon7:c.C11276T:p.A3759V	.	433	1058	31	0	0	31	0.0144388	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.024738690492	.	.	4.977e-05	0.0001	0	0	0	0	0	0.0003	3.84e-05	1	26028	rs762470858	3.971e-05	7.868e-05	3.542e-05	4.404e-05	0.0002	3.115e-05	2.849e-05	3.767e-05	2.755e-05	2.992e-05	0	0	0	0	0.0002	4.049e-05	6.632e-05	8.12e-05	4.058e-05	0.0014	5.287e-05	2.77e-05	0.0001	1.757e-05	1.157e-05	4.944e-05	3.19e-05	0.0001	0	0	0	0	0	0	1.489e-05	0	0	0.028	0.46129	D	0.063	0.45110	T	0.012	0.16265	B	0.01	0.14941	B	0.299966	0.03948	U	1.840710	1	0.08975	N	0.205	0.09354	N	5.83	0.00652	T	-2.56	0.55339	D	0.069	0.04188	-0.9045	0.47504	T	0.003	0.00929	T	10	0.06377372	0.08357	T	0.024739	0.47726	T	0.037	0.09474	.	.	0.0138822411134	0.00435	0.004746779182261101	0.00447	.	.	0.167820572853	0.00025	T	0.024804	0.18673	T	-0.539558	0.00337	T	-0.738514	0.03953	T	0.0586531829207644	0.06954	T	0.236476	0.03296	T	0.04050458	0.05794	0.058473505	0.10811	0.04050458	0.05794	0.058473505	0.10811	-1.868	0.02720	T	.	.	0.092	0.13362	B	.	.	-0.717969	0.01279	0.067	0.97329653179763331	0.33418	0.02806	0.07531	N	AEFBI	.	.	.	-1.08578588282399	0.06905	0.319191	-1.17118712972313	0.06395	0.3077083	1.61262701251638E-4	0.05721	0.706548	0.73137	0	0.547309	0.14657	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	4.13	-1.91	0.07225	-0.804000	0.04641	-20.000000	0.00162	-1.927000	0.00502	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5597:0.1748:0.2655:0.0	4.779	0.12563	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	190.44	177	chr14	104944175	.	G	A	190.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.276;DP=1580;ExcessHet=0;FS=23.452;MLEAC=1;MLEAF=0.071;MQ=58.82;MQRankSum=-17.47;QD=0.62;ReadPosRankSum=-1.583;SOR=2.819	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:282,25:307:99:0|1:104944080_G_A:201,0,11766:104944080	6	0	1	0
chr14	104944178	104944178	G	C	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.C10973G:p.T3658R,AHNAK2:NM_138420:exon7:c.C11273G:p.T3758R	.	433	1072	17	0	0	17	0.00786673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.00946792399026	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1183612492	2.053e-06	3.215e-05	1.362e-06	2.752e-06	2.32e-05	5.5e-07	1.5e-07	3.85e-06	1.44e-06	0	0	0	0	0	0	8.996e-07	0	2.32e-05	6.766e-06	0.0012	1.322e-05	0	2.543e-05	0	0	.	.	2.543e-05	0	0	0	0	0	0	0	0	0	0.556	0.06461	T	0.654	0.06643	T	0.017	0.17573	B	0.008	0.13708	B	0.045649	0.01949	U	4.017220	1	0.08975	N	1.095	0.27400	L	4.71	0.01655	T	-0.41	0.14000	N	0.087	0.06454	-0.8847	0.49382	T	0.008	0.02679	T	10	0.055714905	0.06134	T	0.009468	0.24809	T	0.032	0.07718	0.229	0.15556	0.0138822411134	0.00435	0.004878085995868745	0.00459	.	.	0.215819358826	0.01082	T	0.020774	0.16293	T	-0.314783	0.07334	T	-0.689941	0.06392	T	0.0369846471797902	0.03153	T	0.308469	0.05950	T	0.026394365	0.01691	0.034579005	0.02549	0.026394365	0.01691	0.034579005	0.02549	-6.347	0.49094	T	.	.	0.087	0.11172	B	.	.	-0.339081	0.02450	0.281	0.62540945077157595	0.06989	0.01830	0.05681	N	AEFBI	.	.	.	-1.28187589143296	0.03893	0.1747631	-1.36185924592355	0.03668	0.1715764	1.3216691354537E-4	0.05486	0.706548	0.73137	0	0.547309	0.14657	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	4.4	-1.33	0.08693	-1.086000	0.03497	-20.000000	0.00162	-1.018000	0.01743	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0856:0.3845:0.4154:0.1145	5.487	0.16046	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	.	.	.	.	.	.	.	.	0.07143	58.44	177	chr14	104944178	.	G	C	58.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=6.86;DP=1590;ExcessHet=0;FS=23.907;MLEAC=1;MLEAF=0.071;MQ=59.04;MQRankSum=-17.45;QD=0.19;ReadPosRankSum=-1.904;SOR=3.94	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:284,22:306:69:0|1:104944080_G_A:69,0,11859:104944080	6	0	1	0
chr15	20534613	20534613	C	0	exonic	GOLGA6L6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	163.49	42	chr15	20534613	.	C	*	163.49	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.638;DP=448;ExcessHet=2.5225;FS=4.11;MLEAC=2;MLEAF=0.143;MQ=54.45;MQRankSum=-1.189;QD=0.49;ReadPosRankSum=0.744;SOR=0.929	GT:AD:DP:GQ:PL	0/1:66,18:84:99:519,0,2608	5	0	2	0
chr15	20534634	20534718	CTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCCCTTATCTTCTCCTCCTGCTTCCACATCTTCTCCTCCTGCTCCTGCCTCTTT	0	exonic	GOLGA6L6	.	.	.	.	495	631	268	4	124	400	0.179454	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	1235.69	42	chr15	20534634	.	CTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCCCTTATCTTCTCCTCCTGCTTCCACATCTTCTCCTCCTGCTCCTGCCTCTTT	*	1235.69	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.33;DP=401;ExcessHet=0.4813;FS=4.038;MLEAC=2;MLEAF=0.143;MQ=51.78;MQRankSum=1.12;QD=5.75;ReadPosRankSum=0.373;SOR=0.985	GT:AD:DP:GQ:PL	0/1:36,18:59:99:559,0,2276	5	0	2	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	0.8571	7281.9	27	chr15	22081297	.	T	C	7281.9	.	AC=12;AF=0.857;AN=14;BaseQRankSum=8.72;DP=836;ExcessHet=0.3476;FS=134.374;MLEAC=12;MLEAF=0.857;MQ=46.84;MQRankSum=-7.545;QD=9.34;ReadPosRankSum=0.422;SOR=7.264	GT:AD:DP:GQ:PL	1/1:0,60:60:99:1956,180,0	0	5	2	0
chr15	22768275	22768275	C	0	exonic	GOLGA6L7	.	.	.	.	1270	216	4	27	5	63	0.118367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	396.5	7	chr15	22768275	.	C	*	396.5	.	AC=2;AF=0.25;AN=8;DP=36;ExcessHet=0.6695;FS=0;MLEAC=3;MLEAF=0.375;MQ=57.85;QD=15.86;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:1,3:4:21:.:.:105,0,21:.	2	0	2	3
chr15	22768302	22768302	T	0	exonic	GOLGA6L7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	119.32	7	chr15	22768302	.	T	*	119.32	.	AC=2;AF=0.2;AN=10;DP=29;ExcessHet=0.2119;FS=0;MLEAC=3;MLEAF=0.3;MQ=47.98;QD=8.52;SOR=0.818	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:1,3:4:21:.:.:105,0,21:.	3	0	2	2
chr15	23361381	23361381	G	0	exonic	GOLGA8H;GOLGA8S	.	.	.	.	434	682	98	9	299	415	0.0783784	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	876.74	50	chr15	23361381	.	G	*	876.74	.	AC=5;AF=0.357;AN=14;DP=421;ExcessHet=1.4958;FS=0.825;MLEAC=5;MLEAF=0.357;MQ=54.03;QD=2.34;SOR=0.643	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:59,31:90:99:.:.:1125,0,2280:.	2	0	5	0
chr15	23440492	23440492	C	0	exonic	GOLGA6L2	.	.	.	.	628	57	798	30	9	867	0.882716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	11756.5	113	chr15	23440492	.	C	*	11756.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=1.82;DP=810;ExcessHet=0;FS=0;MLEAC=7;MLEAF=0.583;MQ=58.45;MQRankSum=-0.27;QD=15.03;ReadPosRankSum=0.216;SOR=0.697	GT:AD:DP:GQ:PL	1/0:0,67:138:99:5009,2387,2867	0	0	6	1
chr15	28527435	28527435	C	A	exonic	GOLGA8F;GOLGA8G	.	nonsynonymous SNV	GOLGA8G:NM_001368078:exon8:c.G27T:p.M9I,GOLGA8G:NM_001368080:exon8:c.G27T:p.M9I,GOLGA8G:NM_001350919:exon9:c.G681T:p.M227I,GOLGA8F:NM_001350920:exon9:c.G645T:p.M215I	.	454	1044	21	3	0	27	0.012766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000523040748597	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1268493071	0.0027	0.0030	0.0028	0.0027	0.0183	0.0026	0.0026	0.0141	0.0127	0.0022	0.0049	0.0018	0	0.0004	0.0183	0.0033	0.0038	0.0011	0.0024	0.0027	0.0024	0.0024	0.0033	0.0021	0.0021	0.0025	0.0023	0.0019	0	0.0033	0.0012	0	0.0005	0.0079	0.0028	0.0064	0.0010	0.931	0.02245	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.81	0.10975	T	0.49	0.02993	N	0.06	0.03175	.	.	.	.	.	.	.	0.008204997	0.00186	T	5.23E-4	0.00174	T	.	.	.	.	0.0138822411134	0.00435	0.22901428615377845	0.22816	1.25351651058	0.81861	.	.	.	.	.	.	-0.693542	0.00040	T	-0.769521	0.02784	T	.	.	.	0.333767	0.07077	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.40666	B	.	.	-0.934766	0.00869	0.031	0.40862136682954447	0.02911	0.01035	0.03875	N	AEFI	0.042647	0.06644	N	.	.	.	.	.	.	3.77405762741583E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.637	-1.27	0.08863	-0.186000	0.09666	-0.795000	0.07398	-1.187000	0.01379	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	0.0:0.77:0.0:0.23	7.355	0.25886	410	0.82135	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	314.46	34	chr15	28527435	.	C	A	314.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.344;DP=298;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=22.73;MQRankSum=-0.673;QD=2.81;ReadPosRankSum=0.717;SOR=0.693	GT:AD:DP:GQ:PL	0/1:86,26:112:99:325,0,1851	6	0	1	0
chr15	33871032	33871033	TA	-	splicing	AVEN	NM_020371:exon4:r.spl	.	.	.	456	1055	9	0	2	11	0.00424729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0038	0.0028	0.0023	0.0009	0.0010	0.0030	0.0066	0.0092	0.0010758	28	26028	rs762023446	0.0009	0.0067	0.0009	0.0009	0.0012	0.0009	0.0008	0.0009	0.0008	0.0012	0.0004	0.0006	0.0009	0.0007	0.0011	0.0009	0.0010	0.0010	6.63e-06	6.585e-05	0	1.359e-05	1.476e-05	0	0	.	.	0	0	0	0	0	0	0	1.476e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	55.47	16	chr15	33871031	.	CTA	C	55.47	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.383;DP=70;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.87;ReadPosRankSum=1.38;SOR=0.693	GT:AD:DP:GQ:PL	0/1:2,2:4:62:65,0,62	5	0	1	1
chr15	38481332	38481332	G	A	exonic	FAM98B	.	nonsynonymous SNV	FAM98B:NM_173611:exon7:c.G770A:p.R257H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.549	0.0284180959536	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs768788629	2.189e-05	2.189e-05	2.314e-05	2.063e-05	5.039e-05	1.584e-05	1.356e-05	1.46e-05	1.227e-05	0	4.472e-05	7.653e-05	5.039e-05	0	0	2.158e-05	3.311e-05	0	1.973e-05	1.971e-05	1.285e-05	2.693e-05	2.94e-05	5.25e-06	2.46e-06	4.88e-06	1.83e-06	0	0	0	0.0003	0	0	0	2.94e-05	0	0	0.004	0.78490	D	0.003	0.92824	D	1.0	0.90584	D	0.991	0.79672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.965	0.85198	M	0.44	0.56609	T	-4.21	0.75776	D	0.899	0.89912	-0.1739	0.78333	T	0.383	0.73892	T	10	0.9719173	0.96819	D	0.028418	0.51097	D	0.549	0.81310	0.945	0.99302	0.780464285253	0.77844	0.6513580319407026	0.65071	0.616997827486	0.56145	0.592360854149	0.51828	T	0.42082	0.77241	T	0.208311	0.74670	D	0.237294	0.85019	D	0.951345920562744	0.63539	D	0.910209	0.69728	D	0.55156326	0.70043	0.4760972	0.69643	0.55156326	0.70044	0.4760972	0.69643	-3.48	0.16153	T	.	.	0.888	0.81984	P	.;.	.;.	5.349613	0.89743	31	0.99935228532647202	0.99579	0.99498	0.96759	D	AEFGBI	0.803256	0.72845	D	0.756278471067783	0.83315	7.984977	0.687306535416942	0.81413	7.521155	0.999999999999986	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.71	4.71	0.59010	9.714000	0.97983	8.598000	0.77715	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:1.0:0.0	18.202	0.89776	892	0.26670	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	915.46	33	chr15	38481332	.	G	A	915.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.76;DP=251;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.37;ReadPosRankSum=0.011;SOR=0.677	GT:AD:DP:GQ:PL	0/1:36,38:74:99:926,0,758	6	0	1	0
chr15	41096253	41096253	G	C	exonic	INO80	.	nonsynonymous SNV	INO80:NM_017553:exon2:c.C58G:p.L20V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.499	0.230949694038	.	.	8.341e-06	0	0	0	0	1.513e-05	0	0	6.5e-06	1	154602	rs766496543	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.35918	T	0.07	0.43721	T	0.993	0.65571	D	0.967	0.71530	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.755	0.45626	L	-3.11	0.92721	D	-0.97	0.25770	N	0.658	0.68255	0.770	0.94036	D	0.844	0.94774	D	10	0.575322	0.65547	D	0.23095	0.88253	D	0.499	0.78288	0.236	0.16608	0.661633646292	0.65880	0.5260119555163638	0.52525	0.310035681446	0.33317	0.780231118202	0.78962	T	0.05765	0.30625	T	0.170503	0.71171	D	0.00713946	0.70798	D	0.634292668284165	0.37796	D	0.927907	0.73422	D	0.27592942	0.50656	0.27308488	0.53225	0.27592942	0.50655	0.27308488	0.53224	-4.238	0.27298	T	.	.	0.140	0.33846	B	.;.;.	.;.;.	4.624555	0.73463	26.0	0.99802759949871023	0.88728	0.98127	0.79829	D	AEFDBCI	0.868620	0.78881	D	0.846005111031047	0.88879	9.747598	0.867441971670391	0.93991	12.42632	0.999999999923393	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.9	5.9	0.94952	9.602000	0.97623	11.835000	0.97647	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.272	0.98481	295	0.88218	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1429	169.06	38	chr15	41096253	.	G	C	169.06	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-1.815;DP=293;ExcessHet=0.3476;FS=107.547;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=1.57;ReadPosRankSum=2.03;SOR=6.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:56,19:75:99:0|1:41096253_G_C:130,0,1336:41096253	5	0	2	0
chr15	42417393	42417393	G	C	exonic	ZNF106	.	nonsynonymous SNV	ZNF106:NM_001381998:exon20:c.C3079G:p.L1027V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.743e-06	0.0001	0	5.513e-06	3.606e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.606e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	244.8	29	chr15	42417393	.	G	C	244.8	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.665;DP=287;ExcessHet=3.1439;FS=133.806;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.18;ReadPosRankSum=0.449;SOR=7.111	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:52,7:59:7:0|1:42417393_G_C:7,0,1757:42417393	4	0	2	1
chr15	42695249	42695249	C	T	exonic	STARD9	.	stopgain	STARD9:NM_020759:exon25:c.C13072T:p.R4358X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.756e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs745363025	1.228e-05	1.163e-05	1.283e-05	1.171e-05	7.573e-05	7.48e-06	6.11e-06	3.216e-05	2.182e-05	0	2.801e-05	0	0	0	0	9.269e-06	0	7.573e-05	1.315e-05	1.313e-05	1.285e-05	1.345e-05	2.414e-05	2.18e-06	8.2e-07	.	.	2.414e-05	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.078	0.05287	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.455046	0.92706	D	0.652534	0.98317	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	9.075379	0.98428	39	0.99241291893150407	0.56565	0.95323	0.64274	D	AEFDBI	0.085684	0.17370	N	0.736645293330003	0.82033	7.663814	0.580042351152704	0.73511	5.982303	0.999976484500668	0.50053	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.77	5.77	0.91077	4.430000	0.59654	3.341000	0.37707	0.599000	0.40250	1.000000	0.71638	0.104000	0.22711	0.677000	0.33454	0.1561:0.8439:0.0:0.0	14.469	0.67080	92	0.96160	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.07143	1050.53	33	chr15	42695249	.	C	T	1050.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.465;DP=286;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.1;ReadPosRankSum=-1.172;SOR=0.639	GT:AD:DP:GQ:PL	0/1:59,45:104:99:1061,0,1461	6	0	1	0
chr15	43600906	43600906	C	G	exonic	STRC	.	nonsynonymous SNV	STRC:NM_153700:exon25:c.G4810C:p.E1604Q	Deafness, autosomal recessive 16, Autosomal recessive	8	1496	16	2	0	20	0.00664011	.	.	.	2367230	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.206	0.173338599262	7.7e-05	.	0.0002	0.0001	0.0002	0	0	0.0002	0.0011	0.0007	0.0001876	29	154602	rs193034976	0.0002	0.0002	0.0001	0.0002	0.0047	0.0001	0.0001	0.0033	0.0028	0.0001	0.0003	0	5.039e-05	0	0.0047	7.645e-05	0.0005	0.0009	8.61e-05	8.542e-05	7.759e-05	9.504e-05	0.0004	4.995e-05	3.992e-05	8.923e-05	5.417e-05	4.893e-05	0	0.0003	0	0	0	0	7.374e-05	0	0.0004	0.067	0.35918	T	0.057	0.46406	T	0.844	0.62325	P	0.528	0.59919	P	0.106447	0.19614	N	0.475055	1	0.81001	D	.	.	.	-1.17	0.78199	T	-0.83	0.22944	N	0.387	0.45047	-0.4511	0.70364	T	0.397	0.74951	T	10	0.23735124	0.40835	T	0.173339	0.85006	D	0.206	0.49396	.	.	0.795319321131	0.79341	0.19506635889689938	0.19424	.	.	0.584268093109	0.50686	T	0.05702	0.30451	T	-0.30102	0.08563	T	-0.302578	0.44452	T	0.071591013011756	0.08873	T	0.805819	0.45382	T	0.16722868	0.37107	0.0865275	0.20051	0.16722868	0.37107	0.0865275	0.20051	-4.418	0.29800	T	0.5105695755445007	0.58438	0.131	0.28232	B	.;.	.;.	4.552980	0.71668	25.7	0.9975587966031535	0.84615	0.78800	0.38933	D	AEFGBI	0.624919	0.60831	D	0.227568560519406	0.52539	3.42742	0.27058083464517	0.53828	3.550048	0.0116965623771096	0.12222	0.651	0.46895	0	0.588015	0.36545	0	0.65145	0.50148	0	0.542086	0.14980	0	.	.	4.37	4.37	0.51830	3.485000	0.52972	5.831000	0.50164	0.547000	0.25779	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	14.856	0.69972	10	0.99061	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.003788	0.07143	1395.46	36	chr15	43600906	.	C	G	1395.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.655;DP=375;ExcessHet=0;FS=1.98;MLEAC=1;MLEAF=0.071;MQ=55.09;MQRankSum=0.058;QD=8.46;ReadPosRankSum=2.32;SOR=0.54	GT:AD:DP:GQ:PL	0/1:100,65:165:99:1406,0,2456	6	0	1	0
chr15	45104263	45104263	C	T	exonic	DUOX2	.	nonsynonymous SNV	DUOX2:NM_001363711:exon19:c.G2437A:p.E813K,DUOX2:NM_014080:exon19:c.G2437A:p.E813K	Thyroid dyshormonogenesis 6, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	1884640	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.258	0.0334280869505	.	.	4.186e-05	0.0002	0	0	0	1.519e-05	0	0.0001	3.23e-05	5	154602	rs773481995	2.6e-05	2.599e-05	1.906e-05	3.3e-05	0.0003	1.932e-05	1.692e-05	6.092e-05	2.521e-05	8.961e-05	2.236e-05	0.0004	2.519e-05	0	0.0003	1.079e-05	8.279e-05	3.479e-05	1.972e-05	1.97e-05	3.855e-05	0	2.414e-05	5.24e-06	2.45e-06	.	.	2.414e-05	0	0	0.0003	0	0	0	1.47e-05	0	0	0.017	0.51248	D	0.047	0.48855	D	0.152	0.28062	B	0.046	0.24676	B	0.000502	0.43753	D	0.264532	0.913043	0.36463	D	1.755	0.45626	L	-0.11	0.64445	T	-2.84	0.59873	D	0.472	0.53708	-0.8429	0.52453	T	0.114	0.40513	T	9	0.25495747	0.42882	T	0.033428	0.54974	D	0.258	0.56959	0.364	0.37036	0.839667157149	0.83814	0.5427500282099641	0.54201	0.0689220398116	0.07714	0.543329358101	0.44916	T	0.057074	0.69574	T	-0.188432	0.22490	T	-0.271777	0.47639	T	0.157524958252907	0.17686	T	0.940906	0.77861	D	0.24151464	0.47067	0.28112525	0.54092	0.27129057	0.50200	0.3136009	0.57356	-11.05	0.79931	D	0.5645131516782669	0.63205	0.095	0.14979	B	.;.	.;.	3.987606	0.58662	24.0	0.99848817230128761	0.92838	0.93074	0.57261	D	AEFDGBI	0.503924	0.53570	D	0.156775579018936	0.49132	3.117171	0.277997617290687	0.54258	3.591267	0.999980299925604	0.51787	0.516011	0.20929	0	0.59043	0.45803	0	0.577349	0.28860	0	0.530356	0.10902	0	.	.	5.23	4.29	0.50359	4.790000	0.62146	4.922000	0.46051	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.906000	0.44173	0.0:0.9219:0.0:0.0781	13.826	0.62845	592	0.68746	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	2394.49	33	chr15	45104263	.	C	T	2394.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.38;DP=343;ExcessHet=0;FS=1.97;MLEAC=1;MLEAF=0.071;MQ=52.95;MQRankSum=-0.424;QD=14.51;ReadPosRankSum=-2.106;SOR=0.866	GT:AD:DP:GQ:PL	0/1:76,89:165:99:2405,0,1683	6	0	1	0
chr15	50968263	50968263	G	A	exonic	AP4E1	.	nonsynonymous SNV	AP4E1:NM_001252127:exon15:c.G1627A:p.V543I,AP4E1:NM_007347:exon15:c.G1852A:p.V618I	Spastic paraplegia 51, autosomal recessive, Autosomal recessive;Stuttering, familial persistent, 1, Autosomal dominant	0	1517	5	0	0	5	0.00164528	0.9963	0.82	.	242086	Spastic_paraplegia|not_provided|Hereditary_spastic_paraplegia_51	Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772|MedGen:C3661900|MONDO:MONDO:0013401,MedGen:C3151056,OMIM:613744,Orphanet:280763	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.149	0.0165991037787	0.0003	0.000199681	0.0005	0	0.0004	0.0002	0.0002	0.0006	0	0.0003	0.000304	47	154602	rs142215198	0.0003	0.0003	0.0003	0.0004	0.0004	0.0003	0.0003	0.0004	0.0004	3.009e-05	0.0003	3.834e-05	2.535e-05	1.881e-05	0.0002	0.0004	0.0004	0.0001	0.0003	0.0003	0.0003	0.0004	0.0006	0.0003	0.0002	0.0005	0.0004	7.234e-05	0	0.0002	0	0.0002	0	0	0.0006	0.0014	0	0.162	0.23541	T	0.022	0.57587	D	0.548	0.38076	P	0.232	0.38314	B	0.000006	0.62929	D	0.062472	0.999999	0.58761	D	2.135	0.59519	M	1.92	0.23082	T	-0.45	0.14782	N	0.448	0.48872	-1.0914	0.05303	T	0.069	0.28147	T	9	0.1991618	0.35915	T	0.016599	0.37934	T	0.149	0.39377	.	.	0.368394457434	0.36455	0.20972529457826386	0.20888	0.287247929868	0.31124	0.423228561878	0.28281	T	0.07555	0.35204	T	-0.422686	0.01645	T	-0.499998	0.22347	T	0.0797087868909961	0.09950	T	0.871013	0.57621	D	0.0794681	0.18155	0.07723878	0.17185	0.06665487	0.14361	0.08401861	0.19298	-4.004	0.23864	T	.	.	0.110	0.23255	B	.;.	.;.	4.219653	0.63816	24.6	0.99598782738263925	0.74042	0.97635	0.76055	D	AEFBI	0.843867	0.76086	D	0.313770668790497	0.56855	3.850984	0.380681899120787	0.60373	4.224306	0.999975753900648	0.50053	0.651	0.46895	0	0.601575	0.49859	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	4.71	4.71	0.59010	8.340000	0.89951	8.591000	0.77687	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.950000	0.49671	0.0:0.0:1.0:0.0	16.672	0.85127	260	0.89800	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	774.83	34	chr15	50968263	.	G	A	774.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.884;DP=212;ExcessHet=0;FS=2.778;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.49;ReadPosRankSum=-1.045;SOR=0.374	GT:AD:DP:GQ:PL	0/1:16,31:47:99:785,0,425	6	0	1	0
chr15	52609461	52609461	C	T	exonic	FAM214A	.	nonsynonymous SNV	FAM214A:NM_001286495:exon5:c.G1474A:p.V492I,FAM214A:NM_001385020:exon5:c.G1474A:p.V492I,FAM214A:NM_001385022:exon5:c.G1189A:p.V397I,FAM214A:NM_001385023:exon5:c.G1189A:p.V397I,FAM214A:NM_001385013:exon6:c.G1453A:p.V485I,FAM214A:NM_001385015:exon6:c.G1453A:p.V485I,FAM214A:NM_001385016:exon6:c.G1453A:p.V485I,FAM214A:NM_001385017:exon6:c.G1453A:p.V485I,FAM214A:NM_001385018:exon6:c.G1453A:p.V485I,FAM214A:NM_001385019:exon6:c.G1474A:p.V492I,FAM214A:NM_001385021:exon6:c.G1453A:p.V485I,FAM214A:NM_019600:exon6:c.G1453A:p.V485I,FAM214A:NM_001385014:exon7:c.G1453A:p.V485I	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.0146755607889	0.0006	.	0.0007	0	8.639e-05	0	0.0002	0.0011	0	0.0005	0.0005627	87	154602	rs202204044	0.0005	0.0005	0.0005	0.0005	0.0012	0.0005	0.0005	0.0006	0.0004	0	0.0004	0.0046	0	0.0005	0.0012	0.0005	0.0006	0.0002	0.0006	0.0006	0.0006	0.0005	0.0022	0.0005	0.0004	0.0016	0.0014	9.646e-05	0	0.0022	0.0052	0	0.0003	0	0.0003	0.0005	0.0008	0.09	0.32141	T	0.069	0.43913	T	0.023	0.18885	B	0.017	0.18140	B	0.000512	0.43753	N	0.195202	0.999995	0.58761	D	2.02	0.55341	M	0.74	0.50459	T	-0.58	0.17417	N	0.113	0.10483	-1.0633	0.10950	T	0.090	0.34518	T	10	0.0067714453	0.00154	T	0.014676	0.34954	T	0.028	0.06331	.	.	0.110392049598	0.10638	0.44951801792509455	0.44869	0.0828730948051	0.09350	0.326462268829	0.14399	T	0.001902	0.01317	T	-0.409508	0.02003	T	-0.456093	0.27026	T	0.0156266466232175	0.00358	T	0.862114	0.55818	D	0.0783766	0.17846	0.06675277	0.13717	0.0783766	0.17845	0.06675277	0.13717	-1.49	0.01744	T	.	.	0.097	0.18206	B	.;.;.;.	.;.;.;.	3.008006	0.40211	21.1	0.98640185083608722	0.44042	0.88602	0.48606	D	AEFGBHCI	0.311991	0.41756	N	-0.15081375378736	0.35199	2.018837	0.0514344077855999	0.42141	2.543813	0.999985872970271	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.78	4.86	0.62624	3.629000	0.54007	4.031000	0.41338	0.599000	0.40250	0.997000	0.40164	0.999000	0.35428	0.999000	0.91618	0.0:0.9277:0.0:0.0723	13.500	0.60902	334	0.86273	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.07143	684.83	50	chr15	52609461	.	C	T	684.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.05;DP=475;ExcessHet=0;FS=0.852;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.44;ReadPosRankSum=-0.067;SOR=0.879	GT:AD:DP:GQ:PL	0/1:63,29:92:99:695,0,1682	6	0	1	0
chr15	59123539	59123539	C	T	exonic	CCNB2	.	nonsynonymous SNV	CCNB2:NM_004701:exon8:c.C998T:p.T333I	.	441	1079	2	0	0	2	0.000925926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.249	0.029526233376	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.37e-06	2.052e-06	0	2.754e-06	.	2.3e-07	9e-08	.	.	0	0	0	0	0	0	0	3.317e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.30656	T	0.081	0.51421	T	0.799	0.44910	P	0.69	0.53781	P	0.000000	0.84330	D	0.050387	0.999659	0.48079	D	2.76	0.80626	M	1.62	0.28189	T	-1.62	0.40468	N	0.64	0.65245	-0.6813	0.61312	T	0.220	0.58332	T	10	0.7429799	0.75090	D	0.029526	0.52020	D	0.249	0.55752	0.759	0.88811	0.852573532592	0.85115	0.726605649599939	0.72604	0.551851109033	0.52016	0.633831262589	0.57688	T	0.37723	0.74046	T	0.0123636	0.53348	T	-0.220017	0.52735	T	0.957615673542023	0.65056	D	0.882712	0.65783	D	0.16603227	0.36912	0.17167073	0.39367	0.16603227	0.36912	0.17167073	0.39366	-8.555	0.64792	D	.	.	0.638	0.73675	P	.;.;.	.;.;.	4.667684	0.74564	26.2	0.9975715235371454	0.84772	0.94205	0.60432	D	AEFDBCI	0.637206	0.61607	D	0.643955632217772	0.75979	6.402496	0.620207277046173	0.76409	6.485668	0.999999615124575	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.53	5.53	0.82530	3.867000	0.55760	5.965000	0.51894	0.549000	0.26987	0.998000	0.41325	1.000000	0.68203	0.957000	0.51019	0.0:1.0:0.0:0.0	18.458	0.90674	516	0.74704	Cyclin, C-terminal domain|Cyclin-like|Cyclin, C-terminal domain|Cyclin-like;Cyclin, C-terminal domain;Cyclin, C-terminal domain|Cyclin-like|Cyclin, C-terminal domain|Cyclin-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	.	.	.	.	.	.	.	.	0.1429	1351.26	34	chr15	59123539	.	C	T	1351.26	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.343;DP=280;ExcessHet=0.3476;FS=1.377;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=9.86;ReadPosRankSum=1.39;SOR=0.834	GT:AD:DP:GQ:PL	0/1:38,17:55:99:354,0,975	5	0	2	0
chr15	62164567	62164567	G	T	exonic	C2CD4B	.	nonsynonymous SNV	C2CD4B:NM_001007595:exon2:c.C418A:p.L140M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.00473962247016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.672e-07	1.368e-06	0	2.041e-06	5.066e-05	0	0	.	.	0	0	0	0	0	0	0	0	5.066e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	0.20607	T	0.094	0.39645	T	0.699	0.41837	P	0.146	0.33945	B	0.616041	0.05729	U	1.462510	1	0.08975	N	1.86	0.49225	L	1.5	0.31205	T	-0.26	0.11185	N	0.157	0.16308	-1.0661	0.10293	T	0.054	0.22731	T	10	0.09061715	0.15802	T	0.00474	0.11816	T	0.045	0.12272	0.159	0.06287	0.185906805712	0.18197	0.06498091210684075	0.06437	1.02390780993	0.75202	0.795160293579	0.81227	T	0.003076	0.02473	T	-0.234973	0.15996	T	-0.575299	0.14966	T	0.334537535905838	0.26406	T	0.262274	0.04237	T	0.08632908	0.20061	0.059878334	0.11311	0.08632908	0.20060	0.059878334	0.11311	-7.011	0.54114	T	.	.	0.139	0.30529	B	.	.	1.013277	0.13924	10.48	0.96147878028651734	0.28856	0.04613	0.10272	N	AEFDBCI	0.084825	0.17193	N	-1.00390430226808	0.08523	0.3999126	-1.27322383520291	0.04795	0.2270734	0.999999695317524	0.74766	0.437478	0.07067	0	0.59043	0.45803	0	0.606814	0.37721	0	0.621717	0.48901	0	.	.	2.9	-5.81	0.02148	-0.014000	0.12594	-0.106000	0.11884	-0.297000	0.06226	0.082000	0.22389	0.000000	0.08366	0.002000	0.04165	0.3114:0.3101:0.1355:0.2429	0.670	0.00802	279	0.89001	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	30.6	2	chr15	62164567	.	G	T	30.6	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.967;DP=37;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.2;ReadPosRankSum=0;SOR=0.223	GT:AD:DP:GQ:PL	0/1:1,2:3:31:40,0,31	5	0	1	1
chr15	65375359	65375359	A	C	exonic	IGDCC3	.	nonsynonymous SNV	IGDCC3:NM_004884:exon2:c.T147G:p.S49R	.	.	.	.	.	.	.	.	.	.	.	4150769	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.242	0.0307965821773	.	.	2.501e-05	0	0	0	0	4.539e-05	0	0	1.94e-05	3	154602	rs971761313	7.552e-06	8.209e-06	9.547e-06	5.53e-06	0.0002	4.05e-06	2.96e-06	3.11e-06	2.25e-06	0	2.241e-05	0	0	0	0.0002	7.222e-06	1.663e-05	0	1.972e-05	1.97e-05	2.57e-05	1.345e-05	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.247	0.17296	T	0.013	0.63109	D	0.922	0.51142	P	0.724	0.55036	P	0.000098	0.51296	D	0.173956	0.677326	0.33200	D	0.965	0.23975	L	-0.23	0.66652	T	-1.49	0.36385	N	0.389	0.43029	-0.5233	0.67792	T	0.228	0.59296	T	10	0.19900832	0.35893	T	0.030797	0.53030	D	0.242	0.54781	0.345	0.33950	0.375861065471	0.37200	0.6680216033378564	0.66740	0.595986134547	0.54857	0.560665726662	0.47363	T	0.122205	0.44571	T	-0.242733	0.15003	T	-0.478788	0.24574	T	0.215583115816116	0.21241	T	0.762724	0.38847	T	0.14398085	0.33069	0.13174501	0.31628	0.14398085	0.33068	0.13174501	0.31627	-6.716	0.51931	T	.	.	0.241	0.47513	B	.	.	0.370218	0.07427	4.056	0.96767874632756978	0.31023	0.11964	0.16974	N	AEFGBI	0.127394	0.24473	N	-0.977155342316528	0.09093	0.4289608	-1.21052520601847	0.05740	0.2743493	0.999999701159576	0.74766	0.740716	0.97744	0	0.563428	0.19063	0	0.0	0.00061	3	0.530356	0.10902	0	.	.	5.63	-6.89	0.01501	-1.124000	0.03372	-3.505000	0.02736	-0.137000	0.12594	0.001000	0.13787	0.000000	0.08366	0.019000	0.11356	0.7256:0.0:0.2744:0.0	17.974	0.89042	457	0.78953	Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2143	3731.87	36	chr15	65375359	.	A	C	3731.87	.	AC=3;AF=0.214;AN=14;BaseQRankSum=2.29;DP=316;ExcessHet=0;FS=0.669;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=22.35;ReadPosRankSum=-1.979;SOR=0.804	GT:AD:DP:GQ:PL	1/1:0,80:80:99:2592,240,0	5	1	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	.	.	.	.	.	.	.	.	0.25	187.05	56	chr15	66326260	.	C	G	187.05	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-2.347;DP=352;ExcessHet=1.383;FS=285.591;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=0.91;ReadPosRankSum=1.3;SOR=7.903	GT:AD:DP:GQ:PL	0/1:50,14:64:99:112,0,1163	3	0	3	1
chr15	74181318	74181318	G	A	exonic	STRA6	.	nonsynonymous SNV	STRA6:NM_001142617:exon17:c.C1661T:p.P554L,STRA6:NM_001142618:exon17:c.C1661T:p.P554L,STRA6:NM_001142619:exon17:c.C1634T:p.P545L,STRA6:NM_001199040:exon17:c.C1772T:p.P591L,STRA6:NM_001199041:exon17:c.C1706T:p.P569L,STRA6:NM_001199042:exon17:c.C1778T:p.P593L,STRA6:NM_022369:exon17:c.C1661T:p.P554L	Microphthalmia, isolated, with coloboma 8, Autosomal recessive;Microphthalmia, syndromic 9, Autosomal recessive	1	1520	1	0	0	1	0.000328839	.	.	.	2671577	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.121	0.0365947967064	.	.	3.485e-05	0	0.0003	0.0001	0	0	0	0	2.59e-05	4	154602	rs759887263	3.083e-05	3.078e-05	3.953e-05	2.204e-05	0.0002	2.35e-05	2.098e-05	0.0001	9.208e-05	0	0.0002	0	2.522e-05	0	0	2.159e-05	0.0001	2.323e-05	4.605e-05	4.597e-05	6.428e-05	2.695e-05	0.0003	2.112e-05	1.528e-05	8.883e-05	5.39e-05	0	0	0.0003	0	0	0	0	4.414e-05	0	0	0.36	0.13131	T	0.283	0.22154	T	0.017	0.20130	B	0.003	0.10090	B	0.009835	0.30183	N	0.381182	0.999999	0.08975	N	1.5	0.37844	L	-1.32	0.79761	T	-2.6	0.55983	D	0.098	0.10626	-0.9722	0.36734	T	0.189	0.54049	T	10	0.042830825	0.03071	T	0.036595	0.57092	D	0.121	0.33580	.	.	0.247322355667	0.24350	0.3501652648074907	0.34930	0.0955936571595	0.10801	0.272087872028	0.06415	T	0.242123	0.61080	T	-0.283575	0.10292	T	-0.347553	0.39485	T	0.0402615802043343	0.03738	T	0.768523	0.39806	T	0.03695256	0.04644	0.055827837	0.09864	0.03695256	0.04644	0.055827837	0.09864	-4.876	0.35464	T	.	.	0.073	0.09627	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	1.196037	0.15877	12.17	0.83564370307357361	0.14795	0.05836	0.11778	N	AEFGBHCI	0.124187	0.24013	N	-1.06742686864238	0.07250	0.3362193	-1.08930655257188	0.07910	0.3866862	0.999998708595598	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.72	-1.66	0.07824	0.373000	0.20215	1.167000	0.24596	-0.154000	0.11915	0.028000	0.20300	0.110000	0.22784	0.049000	0.15107	0.0877:0.2059:0.1934:0.513	3.517	0.07288	808	0.43318	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	3930.31	38	chr15	74181318	.	G	A	3930.31	.	AC=3;AF=0.25;AN=12;BaseQRankSum=0.794;DP=325;ExcessHet=0;FS=2.437;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=22.33;ReadPosRankSum=-0.359;SOR=0.964	GT:AD:DP:GQ:PL	0/1:35,45:80:99:1126,0,731	4	1	1	1
chr15	78764670	78764670	G	A	exonic	ADAMTS7	.	nonsynonymous SNV	ADAMTS7:NM_014272:exon20:c.C4304T:p.P1435L	.	867	653	2	0	0	2	0.00152905	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00811081495837	0.0007	0.00179712	0.0014	0.0046	0	0	0	2.771e-05	0	0.0092	0.0007438	115	154602	rs201848559	0.0004	0.0004	0.0003	0.0005	0.0042	0.0004	0.0004	0.0037	0.0036	0.0042	2.466e-05	0	0	0	0.0012	0.0001	0.0006	0.0041	0.0010	0.0010	0.0011	0.0010	0.0033	0.0009	0.0008	0.0027	0.0025	0.0031	0	0.0003	0	0	0	0	8.821e-05	0.0005	0.0033	0.312	0.13925	T	0.393	0.15355	T	0.002	0.09854	B	0.002	0.06944	B	0.540777	0.11539	N	0.785759	1	0.08975	N	0.21	0.09513	N	0.67	0.52187	T	-1.23	0.31170	N	0.047	0.01911	-1.0285	0.20940	T	0.061	0.25492	T	10	0.008200526	0.00186	T	0.008111	0.21495	T	0.024	0.04979	.	.	0.170165803431	0.16609	0.23361761247003526	0.23276	0.168445223863	0.18995	0.589950799942	0.51487	T	0.015269	0.12843	T	-0.61551	0.00117	T	-0.657434	0.08441	T	0.00425875675228196	0.00045	T	0.152885	0.01311	T	0.044275615	0.07050	0.04636494	0.06445	0.044275615	0.07050	0.04636494	0.06445	-8.294	0.63055	D	.	.	0.071	0.03773	B	.	.	0.258944	0.06375	2.841	0.85616400970196449	0.16004	0.22603	0.21802	N	AEFDBHCI	0.157153	0.28261	N	-0.974067704878724	0.09161	0.4323895	-0.9404614091418	0.11145	0.5659966	0.999999363957493	0.74766	0.712529	0.81865	0	0.588066	0.40923	0	0.635938	0.45252	0	0.613276	0.41899	0	.	.	4.47	2.54	0.29674	1.291000	0.32936	-0.080000	0.12189	-1.236000	0.01320	0.002000	0.15269	0.000000	0.08366	0.001000	0.02609	0.1992:0.0:0.8008:0.0	8.524	0.32454	499	0.76092	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006818	0.000000	0.012363	0.004386	0.000000	0.000000	0.003448	0.000000	0.08333	374.27	18	chr15	78764670	.	G	A	374.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.211;DP=147;ExcessHet=0;FS=1.549;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.37;ReadPosRankSum=0.118;SOR=0.965	GT:AD:DP:GQ:PL	0/1:11,17:28:99:384,0,241	5	0	1	1
chr15	84240000	84240000	C	T	exonic	GOLGA6L4	.	nonsynonymous SNV	GOLGA6L4:NM_001267536:exon6:c.C646T:p.R216C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.00264721639584	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs199861744	0.0001	0.0003	0.0001	0.0002	0.0005	0.0001	0.0001	0.0003	0.0003	0.0001	0.0002	0	0.0001	0.0003	0	9.683e-05	0.0001	0.0005	0.0001	9.217e-05	0.0003	0	0.0002	2.429e-05	9.7e-06	3.517e-05	1.438e-05	0	0	0	0	0	0	0	0.0002	0	0	0.103	0.30097	T	0.111	0.37173	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.93	0.22881	T	-2.3	0.51157	N	0.154	0.15888	-1.0211	0.23357	T	0.052	0.22230	T	4	0.07866424	0.12563	T	0.002647	0.05406	T	0.050	0.13987	.	.	0.0551355673512	0.04727	0.027535362432832812	0.02703	2.36362769044	0.96864	.	.	.	0.063132	0.32096	T	-0.285328	0.10110	T	-0.64763	0.09121	T	0.0658718655270513	0.08059	T	0.134587	0.01064	T	0.08018273	0.18358	0.1661824	0.38405	0.08018273	0.18357	0.1661824	0.38404	-4.271	0.27768	T	.	.	0.189	0.40730	B	.	.	0.821933	0.11932	8.494	0.55735711946588318	0.05404	0.00255	0.01401	N	AEFI	0.043370	0.06847	N	-0.8140046911916	0.12952	0.6347719	-1.05909916569817	0.08517	0.4192082	4.03317645648846E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	.	.	.	-1.226000	0.03063	-0.649000	0.08038	-1.672000	0.00798	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	778	0.48011	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	79.81	.	chr15	84240000	.	C	T	79.81	.	AC=2;AF=0.25;AN=8;DP=8;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.25;MQ=22;QD=32.02;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,2:2:6:1|1:84240000_C_T:90,6,0:84240000	3	1	0	3
chr15	84240189	84240189	C	T	exonic	GOLGA6L4	.	nonsynonymous SNV	GOLGA6L4:NM_001267536:exon6:c.C835T:p.R279C	.	753	753	16	0	0	16	0.0105125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.000722496831276	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1171360296	0.0010	0.0077	0.0011	0.0009	0.0021	0.0009	0.0009	0.0012	0.0011	0.0002	0.0003	0.0006	0.0003	0.0008	0.0021	0.0013	0.0014	0.0002	0.0002	0.0006	0.0002	0.0003	0.0004	0.0002	0.0001	0.0001	0.0001	0.0001	0	0.0004	0.0004	0	0.0007	0	0.0002	0.0006	0	0.1	0.30515	T	0.023	0.57104	D	.	.	.	.	.	.	.	.	.	.	1	0.23639	N	.	.	.	2.4	0.15608	T	-2.26	0.50502	N	0.099	0.08088	-1.0086	0.27354	T	0.036	0.15334	T	6	0.15234295	0.28778	T	7.22E-4	0.00472	T	0.024	0.04979	0.426	0.47185	0.0716867268079	0.06686	0.02407774487081985	0.02358	2.36362769044	0.96864	.	.	.	0.079796	0.36213	T	-0.314989	0.07317	T	-0.690236	0.06375	T	0.0766820126804913	0.09557	T	0.456254	0.13085	T	0.057518452	0.11456	0.05492262	0.09536	0.057518452	0.11456	0.05492262	0.09536	-3.926	0.22693	T	.	.	0.170	0.37445	B	.	.	1.326514	0.17311	13.09	0.57909294928781596	0.05873	0.00472	0.02260	N	AEFI	0.035008	0.04434	N	-0.663721429905769	0.17061	0.8747681	-0.894485716978703	0.12224	0.6275393	6.87443934965625E-6	0.01202	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	0.762	0.762	0.17600	-6.096000	0.00099	-10.050000	0.00745	-1.170000	0.01400	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:1.0:0.0:0.0	4.972	0.13469	778	0.48011	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	105.83	30	chr15	84240189	.	C	T	105.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.255;DP=201;ExcessHet=0;FS=3.899;MLEAC=1;MLEAF=0.071;MQ=32.19;MQRankSum=-1.602;QD=2.71;ReadPosRankSum=-0.411;SOR=1.249	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:33,6:39:99:0|1:84240169_A_G:116,0,1208:84240169	6	0	1	0
chr15	84512517	84512517	T	0	exonic	GOLGA6L4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	173.97	34	chr15	84512517	.	T	*	173.97	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-1.271;DP=364;ExcessHet=0;FS=3.859;MLEAC=4;MLEAF=0.286;MQ=46.02;MQRankSum=-5.822;QD=1.12;ReadPosRankSum=0.662;SOR=1.132	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:1,27:28:51:1|1:84512508_ATGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCC_A:1196,51,0:84512508	5	2	0	0
chr15	85710582	85710582	C	T	exonic	AKAP13	.	nonsynonymous SNV	AKAP13:NM_001270546:exon11:c.C1399T:p.P467S,AKAP13:NM_006738:exon19:c.C5548T:p.P1850S,AKAP13:NM_007200:exon19:c.C5536T:p.P1846S	.	420	1098	3	1	0	5	0.00227169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.0215872086774	0.0005	0.000199681	0.0010	0	0.0005	0	0.0009	0.0012	0.0011	0.0020	0.0009185	142	154602	rs112971613	0.0008	0.0008	0.0007	0.0009	0.0047	0.0007	0.0007	0.0033	0.0028	8.965e-05	0.0005	0.0060	0	0.0006	0.0047	0.0006	0.0012	0.0024	0.0006	0.0006	0.0006	0.0005	0.0017	0.0005	0.0004	0.0008	0.0006	2.406e-05	0	0.0007	0.0037	0	0.0006	0.0034	0.0007	0.0005	0.0017	0.005	0.63226	D	0.545	0.25135	T	0.972	0.60381	D	0.647	0.58514	P	.	.	.	.	0.836321	0.34996	D	2.365	0.68172	M	2.87	0.10674	T	-3.3	0.65858	D	0.215	0.31365	-0.9349	0.43409	T	0.086	0.33550	T	9	0.0072150826	0.00164	T	0.021587	0.44379	T	0.103	0.29403	.	.	0.306606720791	0.30265	0.253976200292315	0.25311	0.0720078123566	0.08073	0.443444252014	0.31048	T	0.08597	0.38019	T	-0.475985	0.00781	T	-0.463759	0.26191	T	0.0633773362172743	0.07688	T	0.940506	0.78031	D	0.19886824	0.41805	0.23886791	0.49220	0.19886824	0.41805	0.23886791	0.49219	-9.808	0.72754	D	.	.	0.099	0.35808	B	.;.;.;.;.;.	.;.;.;.;.;.	3.976917	0.58430	24.0	0.99920635407809288	0.98721	0.97037	0.72325	D	ALL	0.560422	0.56883	D	0.253272392519338	0.53800	3.547553	0.328782688902294	0.57236	3.888775	0.999999999999997	0.74766	0.706298	0.61202	0	0.648423	0.57943	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.95	5.03	0.67015	5.812000	0.68868	5.893000	0.50786	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.1513:0.8487:0.0:0.0	14.003	0.63962	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	0.006042	0.000000	0.001359	0.002924	0.000000	0.000000	0.024390	0.007576	0.2143	6035.7	33	chr15	85710582	.	C	T	6035.7	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-0.618;DP=612;ExcessHet=0;FS=0.54;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=21.56;ReadPosRankSum=-1.013;SOR=0.763	GT:AD:DP:GQ:PL	0/1:60,65:125:99:1620,0,1445	5	1	1	0
chr15	86142017	86142017	A	G	exonic	AGBL1	.	nonsynonymous SNV	AGBL1:NM_152336:exon2:c.A65G:p.K22R	Corneal dystrophy, Fuchs endothelial, 8, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	.	.	.	0.0001	0	0	0	0	0	0	0.0003	1.29e-05	2	154602	rs759396378	2.79e-05	2.668e-05	1.129e-05	4.497e-05	0.0005	2.089e-05	1.834e-05	0.0004	0.0003	0	0	0	0	0	0	0	0	0.0005	1.313e-05	1.312e-05	0	2.685e-05	0.0004	2.18e-06	8.2e-07	7.296e-05	3.031e-05	0	0	0	0	0	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999999	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	-0.9876	0.33200	T	0.079	0.31526	T	5	0.122226596	0.23183	T	.	.	.	0.186	0.46104	.	.	.	.	0.050440090588068066	0.04987	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.582642	0.21138	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.01786	B	.	.	1.257498	0.16549	12.61	0.59182279510737013	0.06164	0.07074	0.13100	N	AEFBI	.	.	.	-0.941358542865043	0.09888	0.4700118	-1.08591921048569	0.07976	0.390239	0.0036404231356009	0.10212	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0768874	0.17753	5.04	-4.37	0.03381	0.542000	0.22930	1.117000	0.24210	-0.576000	0.04747	0.856000	0.30544	0.983000	0.30585	0.015000	0.10482	0.6778:0.0:0.3222:0.0	11.233	0.48155	480	0.77422	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	2999.26	37	chr15	86142017	.	A	G	2999.26	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.794;DP=460;ExcessHet=0.3476;FS=1.36;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=9.55;ReadPosRankSum=0.401;SOR=0.801	GT:AD:DP:GQ:PL	0/1:72,51:123:99:1247,0,1761	5	0	2	0
chr15	89908409	89908409	G	A	exonic	ARPIN;ARPIN-AP3S2	.	nonsynonymous SNV	ARPIN-AP3S2:NM_001199058:exon3:c.C172T:p.R58C,ARPIN:NM_182616:exon3:c.C172T:p.R58C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.597	0.196729990442	.	0.000599042	8.3e-05	0.0006	0	0	0.0002	4.503e-05	0	0	8.41e-05	13	154602	rs547565411	3.626e-05	3.694e-05	3.677e-05	3.576e-05	0.0003	2.829e-05	2.565e-05	0.0002	0.0001	0.0003	4.473e-05	0	0	0.0002	0	2.248e-05	1.656e-05	2.319e-05	0.0002	0.0002	0.0001	0.0002	0.0004	0.0001	8.737e-05	0.0003	0.0002	0.0004	0	0.0001	0	0	0.0002	0	1.47e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000280	0.46590	U	0.147583	1	0.81001	D	2.61	0.76335	M	0.06	0.61798	T	-3.53	0.94899	D	0.83	0.83269	-0.1901	0.77925	T	0.403	0.75359	T	10	0.47919834	0.60328	T	0.19673	0.86496	D	0.597	0.84019	.	.	0.64498588999	0.64204	0.8381120291831355	0.83771	0.39151772003	0.44160	.	.	.	0.447229	0.78957	T	0.0896035	0.63145	D	0.248417	0.85547	D	0.557086169719696	0.34745	D	0.940673	0.77758	D	0.7505056	0.80897	0.43676755	0.67118	0.7505056	0.80899	0.43676755	0.67119	-4.986	0.36687	T	.	.	0.252	0.48675	B	.;.	.;.	5.390253	0.90303	31	0.9993557600838332	0.99579	0.94386	0.61000	D	AEFDBI	0.764282	0.70112	D	0.379125321193932	0.60291	4.216594	0.407945291475246	0.62057	4.415152	0.99996337643745	0.48965	0.706548	0.73137	0	0.573888	0.26702	0	0.570548	0.19454	0	0.714379	0.83352	0	.	.	5.58	4.67	0.58089	5.982000	0.70215	8.603000	0.77736	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0828:0.0:0.9172:0.0	12.218	0.53725	772	0.48957	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	2068.46	36	chr15	89908409	.	G	A	2068.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.701;DP=339;ExcessHet=0;FS=3.046;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.98;ReadPosRankSum=-2.166;SOR=0.996	GT:AD:DP:GQ:PL	0/1:69,79:148:99:2079,0,1635	6	0	1	0
chr16	547838	547838	G	A	exonic	CAPN15	.	nonsynonymous SNV	CAPN15:NM_005632:exon4:c.G1000A:p.A334T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.221	0.199123586226	.	.	5.086e-05	0	0.0002	0	0	5.576e-05	0	0	3.84e-05	1	26028	rs762765497	4.663e-05	4.925e-05	4.093e-05	5.239e-05	8.975e-05	3.737e-05	3.42e-05	4.008e-05	3.66e-05	8.975e-05	6.738e-05	0	0	0	0	5.13e-05	0	5.817e-05	2.628e-05	2.627e-05	2.569e-05	2.689e-05	4.41e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	2.413e-05	0	0	0	0	0	0	4.41e-05	0	0	0.188	0.21304	T	0.603	0.07868	T	0.016	0.17332	B	0.006	0.12133	B	0.000215	0.47681	D	0.179830	0.965577	0.38476	D	0.975	0.24501	L	-2.85	0.91363	D	-0.36	0.13035	N	0.15	0.15328	-0.3327	0.74055	T	0.516	0.81879	D	10	0.12493229	0.23734	T	0.199124	0.86634	D	0.221	0.51721	0.152	0.05544	0.15499578495	0.15088	0.3024292545466378	0.30155	.	.	0.60355168581	0.53406	T	0.009959	0.21082	T	-0.208143	0.19641	T	-0.339117	0.40445	T	0.0347810161799468	0.02771	T	0.865913	0.73996	D	0.028734738	0.02258	0.0509089	0.08085	0.028734738	0.02257	0.0509089	0.08084	-4.837	0.35019	T	.	.	0.085	0.30842	B	.;.	.;.	2.869555	0.37944	20.6	0.98695078617542109	0.44823	0.83517	0.42629	D	AEFBI	0.163574	0.28987	N	-0.305697085541227	0.28930	1.599947	-0.170271611956242	0.32636	1.858749	0.700785888170999	0.22697	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.93	3.94	0.44807	3.566000	0.53550	9.724000	0.81376	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	0.476000	0.28476	0.0913:0.0:0.5344:0.3742	5.901	0.18206	798	0.45050	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1896.53	35	chr16	547838	.	G	A	1896.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.02;DP=322;ExcessHet=0;FS=4.124;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.84;ReadPosRankSum=-0.24;SOR=1.068	GT:AD:DP:GQ:PL	0/1:58,79:137:99:1907,0,1313	6	0	1	0
chr16	670275	670275	A	C	exonic	RHOT2	.	nonsynonymous SNV	RHOT2:NM_001352276:exon6:c.A302C:p.K101T,RHOT2:NM_001352277:exon6:c.A302C:p.K101T,RHOT2:NM_001352279:exon6:c.A302C:p.K101T,RHOT2:NM_001352282:exon6:c.A35C:p.K12T,RHOT2:NM_001352275:exon7:c.A356C:p.K119T,RHOT2:NM_001352278:exon7:c.A356C:p.K119T,RHOT2:NM_001352280:exon7:c.A35C:p.K12T,RHOT2:NM_001352281:exon7:c.A35C:p.K12T,RHOT2:NM_001352284:exon7:c.A35C:p.K12T,RHOT2:NM_001352285:exon7:c.A35C:p.K12T,RHOT2:NM_138769:exon7:c.A356C:p.K119T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.969	0.651736735783	.	.	8.339e-06	0	0	0	0	1.526e-05	0	0	6.5e-06	1	154602	rs748110084	1.986e-05	1.984e-05	1.499e-05	2.478e-05	0.0002	1.393e-05	1.205e-05	0.0001	0.0001	0	0.0002	0	0	0	0	1.529e-05	0	1.159e-05	7.229e-05	7.224e-05	2.57e-05	0.0001	0.0007	3.972e-05	3.128e-05	0.0004	0.0003	2.413e-05	0	0.0007	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	5.085	0.99914	H	-2.31	0.94348	D	-5.37	0.84882	D	0.925	0.92901	1.006	0.97296	D	0.875	0.95850	D	10	0.9714202	0.96755	D	0.651737	0.97054	D	0.969	0.99622	0.847	0.95025	0.995895543515	0.99584	0.8988680567718057	0.89858	0.593925421395	0.54724	0.754203855991	0.75068	T	0.784012	0.96352	D	0.324461	0.84783	D	0.53001	0.95234	D	0.997555077075958	0.91838	D	0.989451	0.96526	D	0.9697371	0.98235	0.9332971	0.97320	0.9697371	0.98235	0.9332971	0.97321	-15.95	0.97685	D	.	.	0.985	0.95940	P	.;.;.	.;.;.	5.110346	0.85434	28.6	0.99804057740544105	0.88817	0.97590	0.75750	D	AEFGBCI	0.929614	0.91563	D	0.94621275413661	0.93833	12.30884	0.820994616246183	0.91215	10.77459	0.999999999996144	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.94	4.94	0.64645	7.379000	0.78975	11.041000	0.85176	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	1.0:0.0:0.0:0.0	13.466	0.60709	645	0.63593	MIRO domain;MIRO domain|Small GTP-binding protein domain;MIRO domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1910.45	36	chr16	670275	.	A	C	1910.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.403;DP=401;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.05;ReadPosRankSum=0.166;SOR=0.639	GT:AD:DP:GQ:PL	0/1:55,81:136:99:1921,0,1335	6	0	1	0
chr16	984734	984734	C	T	exonic	SOX8	.	nonsynonymous SNV	SOX8:NM_014587:exon3:c.C689T:p.T230I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.875	0.783673046314	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.013e-07	4.105e-06	1.391e-06	0	9.111e-07	0	0	.	.	0	0	0	0	0	0	9.111e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.006	0.70582	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.655	0.94224	H	-4.61	0.97866	D	-5.36	0.84811	D	0.661	0.67045	1.100	0.99649	D	0.960	0.98694	D	10	0.78872055	0.78473	D	0.783673	0.98297	D	0.875	0.96280	0.202	0.11659	0.63055879659	0.62753	0.5958750849294123	0.59517	0.832682807749	0.67689	0.893850445747	0.95730	D	0.730112	0.92439	D	0.28342	0.81607	D	0.169337	0.81371	D	0.994334036559524	0.85562	D	0.932807	0.74830	D	0.61163414	0.73316	0.50611603	0.71455	0.61163414	0.73317	0.50611603	0.71455	-15.297	0.96510	D	.	.	0.953	0.87248	P	.	.	5.184682	0.86943	29.1	0.99903467698896387	0.97502	0.99484	0.96594	D	AEFBI	0.876008	0.79975	D	0.829551639530442	0.87916	9.386276	0.735513260001797	0.85069	8.472456	0.999999999848586	0.74766	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	4.18	4.18	0.48473	5.908000	0.69653	7.611000	0.61914	0.576000	0.29215	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	15.733	0.77589	917	0.20147	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.07143	521.53	36	chr16	984734	.	C	T	521.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.372;DP=210;ExcessHet=0;FS=2.45;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.64;ReadPosRankSum=-2.214;SOR=0.405	GT:AD:DP:GQ:PL	0/1:26,23:49:99:532,0,633	6	0	1	0
chr16	1211517	1211517	G	A	exonic	CACNA1H	.	nonsynonymous SNV	CACNA1H:NM_001005407:exon23:c.G4387A:p.D1463N,CACNA1H:NM_021098:exon23:c.G4387A:p.D1463N	Hyperaldosteronism, familial, type IV, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	714724	Idiopathic_generalized_epilepsy|Hyperaldosteronism,_familial,_type_IV	MONDO:MONDO:0005579,MedGen:C0270850,OMIM:600669,OMIM:PS600669|MONDO:MONDO:0014875,MedGen:C4310756,OMIM:617027,Orphanet:642671	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.559	0.107019379893	.	0.000798722	0.0002	0	0.0002	0	0	0	0	0.0015	0.0002005	31	154602	rs542245543	0.0001	0.0001	6.405e-05	0.0001	0.0013	8.79e-05	8.276e-05	0.0011	0.0011	0	2.237e-05	0	5.039e-05	0	0.0003	1.979e-05	9.944e-05	0.0013	9.849e-05	9.844e-05	7.708e-05	0.0001	0.0014	6.002e-05	4.877e-05	0.0007	0.0005	0	0	0.0001	0	0.0002	0	0	5.881e-05	0.0005	0.0014	0.197	0.20607	T	0.179	0.29540	T	0.999	0.77913	D	0.962	0.70672	D	0.036259	0.24545	N	0.436139	0.999295	0.46578	D	1.085	0.27262	L	-4.89	0.98313	D	-4.18	0.75537	D	0.605	0.68169	1.047	0.98048	D	0.926	0.97568	D	10	0.2946446	0.47036	T	0.107019	0.78290	D	0.559	0.81888	0.773	0.89924	0.882057289649	0.88090	0.7304608920110456	0.72991	.	.	0.708253145218	0.68341	T	0.776562	0.94063	D	-0.231673	0.16429	T	-0.140937	0.60036	T	0.274511307477951	0.23939	T	0.972203	0.89922	D	0.27241325	0.50311	0.23776823	0.49082	0.2666221	0.49733	0.236766	0.48956	-7.467	0.59008	T	0.2926297351955737	0.38935	0.159	0.35183	B	.;.;.;.	.;.;.;.	4.599355	0.72823	25.9	0.99423473693900821	0.63887	0.94538	0.61490	D	AEFBCI	0.899163	0.84324	D	0.236166521376934	0.52959	3.467065	0.231000056233872	0.51576	3.338923	0.999990341096675	0.74766	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	3.99	3.99	0.45527	7.910000	0.86855	9.745000	0.81450	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.234000	0.22842	0.0:0.0:1.0:0.0	15.576	0.76129	934	0.15400	Ion transport domain;Ion transport domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.07143	917.83	34	chr16	1211517	.	G	A	917.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.06;DP=236;ExcessHet=0;FS=1.99;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.3;ReadPosRankSum=0.283;SOR=0.766	GT:AD:DP:GQ:PL	0/1:32,37:69:99:928,0,709	6	0	1	0
chr16	1397277	1397277	A	0	exonic	UNKL	.	.	.	.	28	20	70	25	83	203	0.75	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	418.93	32	chr16	1397277	.	A	*	418.93	.	AC=9;AF=0.75;AN=12;DP=345;ExcessHet=0.4139;FS=0.651;MLEAC=10;MLEAF=0.833;MQ=60;QD=1.76;SOR=0.613	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,38:38:99:.:.:1354,129,0:.	0	3	3	1
chr16	2821426	2821426	G	A	exonic	PRSS21	.	nonsynonymous SNV	PRSS21:NM_006799:exon6:c.G766A:p.V256M,PRSS21:NM_144956:exon6:c.G760A:p.V254M,PRSS21:NM_144957:exon6:c.G724A:p.V242M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.705	0.0212299698915	.	.	4.127e-05	0	0	0	0	0	0	0.0003	3.23e-05	5	154602	rs766212468	4.925e-05	4.925e-05	2.45e-05	7.425e-05	0.0007	3.992e-05	3.669e-05	0.0005	0.0005	2.987e-05	4.472e-05	0	2.519e-05	0	0.0002	7.194e-06	1.656e-05	0.0007	3.285e-05	3.94e-05	1.284e-05	5.379e-05	0.0008	1.261e-05	7.98e-06	0.0003	0.0002	0	0	0	0	0	0	0	1.47e-05	0	0.0008	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.998	0.97372	D	.	.	.	.	0.996328	0.43140	D	3.035	0.86516	M	-1.9	0.84628	D	-2.91	0.60982	D	0.548	0.57433	0.865	0.95215	D	0.814	0.93715	D	9	0.6827338	0.71377	D	0.02123	0.43966	T	0.705	0.89422	0.779	0.90388	0.895369457183	0.89433	0.48428621684978057	0.48348	0.138102438505	0.15570	0.536145448685	0.43902	T	0.678518	0.90535	D	-0.0722027	0.40975	T	-0.00523136	0.69996	D	0.728084653839463	0.42111	D	.	.	.	0.47012922	0.65298	0.55601645	0.74320	0.47012922	0.65298	0.55601645	0.74321	-11.118	0.84058	D	.	.	0.849	0.81740	P	.;.	.;.	4.526975	0.71028	25.6	0.99869696101777472	0.94726	0.87200	0.46668	D	AEFDGBHCI	0.584144	0.58309	D	0.748304673765389	0.82793	7.851559	0.608245068673474	0.75537	6.32821	0.999998760609596	0.74766	0.634777	0.41761	0	0.643519	0.57511	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	3.96	3.96	0.45097	6.106000	0.71175	5.375000	0.48439	0.663000	0.56723	1.000000	0.71638	1.000000	0.68203	0.811000	0.38219	0.0:0.0:1.0:0.0	13.618	0.61591	529	0.73716	.;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	.	.	.	.	.	.	.	.	0.07143	1461.44	37	chr16	2821426	.	G	A	1461.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.06;DP=333;ExcessHet=0;FS=6.327;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.91;ReadPosRankSum=-0.218;SOR=0.839	GT:AD:DP:GQ:PL	0/1:68,66:134:99:1472,0,1531	6	0	1	0
chr16	3026272	3026272	C	T	exonic	THOC6	.	nonsynonymous SNV	THOC6:NM_001142350:exon5:c.C346T:p.R116C,THOC6:NM_024339:exon5:c.C346T:p.R116C,THOC6:NM_001347703:exon6:c.C274T:p.R92C,THOC6:NM_001347704:exon6:c.C346T:p.R116C	Beaulieu-Boycott-Innes syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	0.0295790687759	7.7e-05	.	4.123e-05	0	0.0002	0	0	2.999e-05	0	6.056e-05	3.23e-05	5	154602	rs374952281	7.525e-06	7.524e-06	5.445e-06	9.626e-06	8.944e-05	4.04e-06	2.95e-06	2.985e-05	1.804e-05	0	8.944e-05	0	2.519e-05	0	0	2.698e-06	1.656e-05	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	.	.	.	0.024	0.56640	D	0.023	0.77913	B	0.002	0.59428	B	0.000008	0.62929	N	0.103831	0.999848	0.50402	D	1.78	0.46185	L	1.61	0.28391	T	-0.11	0.08653	N	0.405	0.46274	-1.0545	0.13172	T	0.111	0.39935	T	10	0.18333688	0.33656	T	0.029579	0.52060	D	0.111	0.31313	.	.	0.451118754121	0.44735	0.5149417651871719	0.51417	0.130440611418	0.14714	0.414686620235	0.27105	T	0.03269	0.22596	T	-0.268725	0.11899	T	-0.42681	0.30299	T	0.150590851902962	0.17150	T	0.905609	0.67884	D	0.48036888	0.65923	0.103681825	0.24883	0.48036888	0.65924	0.103681825	0.24883	-6.861	0.55811	T	0.7093450235173921	0.78934	0.112	0.35519	B	.;.;.;.	.;.;.;.	2.921471	0.38785	20.8	0.97351090445525201	0.33525	0.14747	0.18564	N	AEFBCI	0.178324	0.30558	N	-0.273761379760645	0.30164	1.679445	-0.295370710201705	0.28252	1.573659	0.999838346365954	0.43792	0.719381	0.83141	0	0.723133	0.82719	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.55	4.59	0.56297	0.938000	0.28562	.	.	0.599000	0.40250	0.063000	0.21864	0.999000	0.35428	0.125000	0.19370	0.0:0.9176:0.0:0.0824	12.423	0.54867	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	.	.	.	.	.	.	.	.	0.1429	4160.26	47	chr16	3026272	.	C	T	4160.26	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.53;DP=488;ExcessHet=0.3476;FS=4.479;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=13.55;ReadPosRankSum=0.771;SOR=0.94	GT:AD:DP:GQ:PL	0/1:78,81:159:99:2155,0,1909	5	0	2	0
chr16	3655478	3655478	G	C	exonic	DNASE1	.	nonsynonymous SNV	DNASE1:NM_005223:exon2:c.G105C:p.E35D,DNASE1:NM_001351825:exon3:c.G105C:p.E35D	.	409	1101	11	1	0	13	0.00586907	.	.	.	2811000	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.020	0.00420915607097	0.0043	0.00179712	0.0040	0.0011	0.0024	0	0.0077	0.0057	0.0066	0.0002	0.0039391	609	154602	rs34907394	0.0048	0.0048	0.0048	0.0048	0.0094	0.0047	0.0047	0.0074	0.0067	0.0007	0.0030	0.0031	0	0.0066	0.0094	0.0054	0.0039	0.0007	0.0036	0.0036	0.0033	0.0039	0.0054	0.0033	0.0032	0.0050	0.0048	0.0007	0	0.0037	0.0020	0	0.0062	0.0068	0.0054	0.0057	0.0004	0.719	0.03937	T	1.0	0.01155	T	0.001	0.07471	B	0.008	0.13708	B	0.001348	0.39310	N	0.284400	1	0.81001	D	1.63	0.41750	L	0.32	0.58468	T	1.59	0.00660	N	0.156	0.16168	-1.0771	0.07922	T	0.057	0.23904	T	10	0.0064407587	0.00146	T	0.004209	0.10153	T	0.020	0.03691	0.37	0.38013	0.421550847248	0.41774	0.6230731396441008	0.62240	0.00669680874539	0.00592	0.41994330287	0.27828	T	0.070235	0.33909	T	-0.520298	0.00438	T	-0.51712	0.20587	T	0.00266594604911538	0.00028	T	0.728927	0.34400	T	0.25621912	0.48660	0.0993211	0.23709	0.25621912	0.48660	0.0993211	0.23708	-3.947	0.23008	T	.	.	0.163	0.35972	B	.;.	.;.	1.060269	0.14419	10.99	0.89907885940127696	0.19208	0.44793	0.27396	N	AEFBCI	0.113087	0.22328	N	-0.784045462461887	0.13725	0.6782469	-0.608971251152748	0.19262	1.032697	0.999670807394452	0.41644	0.722319	0.85440	0	0.577304	0.33150	0	0.698795	0.65105	0	0.491896	0.07777	0	.	.	5.39	2.35	0.28166	0.603000	0.23848	.	.	-0.113000	0.14837	0.978000	0.35038	0.966000	0.29516	0.993000	0.69303	0.1622:0.1532:0.5448:0.1399	2.783	0.05036	596	0.68392	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008560	0.005051	0.008152	0.014620	0.000000	0.017241	0.003049	0.003788	0.1429	3353.29	34	chr16	3655478	.	G	C	3353.29	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.594;DP=450;ExcessHet=0.3476;FS=2.462;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=2.93;SOR=0.722	GT:AD:DP:GQ:PL	0/1:74,72:146:99:1722,0,1790	5	0	2	0
chr16	5090111	5090111	A	T	exonic	EEF2KMT	.	nonsynonymous SNV	EEF2KMT:NM_001289029:exon4:c.T532A:p.F178I,EEF2KMT:NM_201598:exon5:c.T613A:p.F205I,EEF2KMT:NM_201400:exon6:c.T715A:p.F239I	.	492	999	9	0	22	31	0.0044843	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.00634192903378	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1452029054	6.876e-06	6.225e-05	9.579e-06	4.146e-06	.	3.48e-06	2.54e-06	.	.	0	0	0	0	0.0002	0	0	0	0	5.39e-05	0.0016	7.912e-05	2.756e-05	0.0002	2.614e-05	1.871e-05	8.335e-05	5.972e-05	0.0002	0	6.655e-05	0	0	0	0	0	0	0	0.371	0.11514	T	0.718	0.06490	T	0.0	0.02946	B	0.001	0.08700	B	0.051195	0.23004	N	0.452369	0.881992	0.28033	N	.	.	.	2.34	0.16351	T	-1.25	0.32991	N	0.281	0.33030	-0.9925	0.31959	T	0.024	0.10374	T	10	0.07094821	0.10392	T	0.006342	0.16668	T	0.036	0.09122	.	.	0.0138822411134	0.00435	0.35754777867292564	0.35668	0.058414084822	0.06474	0.42506146431	0.28533	T	0.004978	0.04407	T	-0.245721	0.14628	T	-0.590737	0.13603	T	0.0609278567135334	0.07315	T	0.593841	0.21938	T	0.08025057	0.18378	0.07948541	0.17899	0.08025057	0.18377	0.07948541	0.17898	-8.801	0.67213	D	.	.	0.214	0.44332	B	.;.;.	.;.;.	1.578377	0.20203	14.64	0.9265268353958801	0.22130	0.35707	0.25364	N	AEFBCI	0.046411	0.07703	N	-0.713611160653821	0.15638	0.7898892	-0.621188378201589	0.18950	1.014565	1.76658864630672E-5	0.02871	0.706548	0.73137	0	0.577304	0.33150	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.02	1.62	0.22817	0.847000	0.27348	0.919000	0.22689	0.754000	0.88378	0.394000	0.26121	0.987000	0.30940	0.805000	0.37950	0.5683:0.0:0.4317:0.0	7.911	0.28954	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	.	.	.	.	.	.	.	.	0.07143	81.45	33	chr16	5090111	.	A	T	81.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.37;DP=215;ExcessHet=0;FS=4.122;MLEAC=1;MLEAF=0.071;MQ=55.71;MQRankSum=-5.86;QD=2.04;ReadPosRankSum=0.623;SOR=1.863	GT:AD:DP:GQ:PL	0/1:33,7:40:92:92,0,959	6	0	1	0
chr16	5090181	5090181	C	G	exonic	EEF2KMT	.	nonsynonymous SNV	EEF2KMT:NM_001289029:exon4:c.G462C:p.K154N,EEF2KMT:NM_201598:exon5:c.G543C:p.K181N,EEF2KMT:NM_201400:exon6:c.G645C:p.K215N	.	491	1020	11	0	0	11	0.00536324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00142779162467	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs112795938	4.886e-06	0.0047	4.173e-06	5.605e-06	3.378e-05	2.03e-06	1.31e-06	3e-07	1.1e-07	3.378e-05	2.267e-05	0	0	3.789e-05	0	1.831e-06	0	1.175e-05	0.0005	0.0043	0.0006	0.0004	0.0015	0.0004	0.0004	0.0012	0.0011	0.0015	0	0.0004	0	0.0002	0.0002	0	8.932e-05	0.0010	0.0002	1.0	0.00964	T	0.835	0.03663	T	0.0	0.02946	B	0.001	0.04355	B	0.000019	0.00348	N	24.680100	1	0.08975	N	.	.	.	3.32	0.07820	T	1.39	0.00925	N	0.194	0.21319	-0.9860	0.33590	T	0.009	0.03054	T	9	0.041027665	0.02722	T	0.001428	0.02139	T	0.021	0.04004	0.421	0.46365	0.0138822411134	0.00435	0.35689211218005856	0.35603	0.0505833985199	0.05556	0.274089753628	0.06682	T	0.004334	0.03739	T	-0.445631	0.01198	T	-0.877895	0.00672	T	0.0422141074880329	0.04094	T	0.243776	0.03556	T	0.030103331	0.02617	0.032476597	0.01988	0.030103331	0.02617	0.032476597	0.01988	-2.528	0.06466	T	.	.	0.056	0.03849	B	.;.;.	.;.;.	-0.425006	0.02121	0.201	0.52361600507666917	0.04733	0.01856	0.05735	N	AEFBCI	0.019369	0.00666	N	-1.31409601631361	0.03513	0.1570565	-1.35851709106572	0.03707	0.1734453	1.53276252840452E-5	0.02871	0.706548	0.73137	0	0.577304	0.33150	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.92	-0.636	0.10930	-1.648000	0.02097	0.337000	0.17343	-0.111000	0.15049	0.000000	0.06391	0.000000	0.08366	0.029000	0.12982	0.2087:0.3334:0.3442:0.1137	2.694	0.04812	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	.	.	.	.	.	.	.	.	0.07143	62.49	33	chr16	5090181	.	C	G	62.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.366;DP=240;ExcessHet=0;FS=2.749;MLEAC=1;MLEAF=0.071;MQ=56.1;MQRankSum=-7.847;QD=0.92;ReadPosRankSum=-0.3;SOR=0.684	GT:AD:DP:GQ:PL	0/1:57,11:68:73:73,0,1574	6	0	1	0
chr16	10694767	10694767	T	C	exonic	TEKT5	.	nonsynonymous SNV	TEKT5:NM_144674:exon1:c.A107G:p.Y36C	.	431	1072	19	0	0	19	0.0087841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	.	0.0058	0.00379393	0.0060	0.0009	0.0016	0	0.0045	0.0085	0.0033	0.0061	0.0059378	918	154602	rs145995713	0.0071	0.0071	0.0069	0.0074	0.0085	0.0070	0.0070	0.0079	0.0079	0.0013	0.0024	0.0028	0	0.0045	0.0085	0.0081	0.0057	0.0068	0.0053	0.0053	0.0055	0.0050	0.0087	0.0050	0.0048	0.0081	0.0079	0.0012	0	0.0029	0.0020	0	0.0063	0.0204	0.0087	0.0062	0.0052	0.021	0.49117	D	0.014	0.62352	D	0.997	0.70673	D	0.912	0.64797	D	0.000032	0.55875	D	0.000000	0.999795	0.49177	D	2.87	0.83286	M	4.01	0.03208	T	-3.6	0.69357	D	0.248	0.28028	-1.1376	0.01450	T	0.022	0.09284	T	10	0.008492172	0.00192	T	.	.	.	0.197	0.47942	.	.	0.426318900417	0.42251	0.5549573341678947	0.55422	0.0398787629884	0.04262	0.432323753834	0.29526	T	0.088516	0.38176	T	-0.312477	0.07532	T	-0.212233	0.53482	T	0.0455695774744691	0.04706	T	0.69823	0.30825	T	0.13175678	0.30701	0.13245705	0.31784	0.13175678	0.30701	0.13245705	0.31783	-2.831	0.08472	T	.	.	0.098	0.16231	B	.	.	2.552558	0.33039	19.22	0.9845097854998458	0.41620	0.92028	0.54785	D	AEFDBI	0.446125	0.50232	N	0.459034230517197	0.64716	4.732678	0.404084745902414	0.61817	4.387482	0.998492518843582	0.37071	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.29	5.29	0.74430	1.118000	0.30860	.	.	-0.109000	0.15193	1.000000	0.71638	0.999000	0.35428	0.150000	0.20306	0.0:0.0854:0.0:0.9146	8.719	0.33589	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	0.007553	0.000000	0.006793	0.017544	0.000000	0.017241	0.000000	0.011364	0.07143	927.46	36	chr16	10694767	.	T	C	927.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.436;DP=262;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.72;ReadPosRankSum=0.301;SOR=0.657	GT:AD:DP:GQ:PL	0/1:21,38:59:99:938,0,549	6	0	1	0
chr16	14582206	14582206	G	C	exonic	PARN	.	nonsynonymous SNV	PARN:NM_001242992:exon16:c.C1029G:p.C343W,PARN:NM_001134477:exon17:c.C984G:p.C328W,PARN:NM_002582:exon17:c.C1167G:p.C389W	Dyskeratosis congenita, autosomal recessive 6, Autosomal recessive;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.641	0.443768951762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0022	0.0008	0.0006	0.0009	0.0007	0.0007	0.0008	0.0008	0.0005	4.476e-05	0.0001	0.0003	0	0.0002	0.0009	0.0006	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.815	0.81989	M	1.91	0.47477	T	-9.08	0.98168	D	0.906	0.93370	-0.6388	0.63197	T	0.257	0.62766	T	10	0.95576084	0.94937	D	0.443769	0.94214	D	0.641	0.86333	0.808	0.92512	0.389283895039	0.38539	0.7594861977466015	0.75896	0.721414007513	0.62234	0.886558771133	0.94825	D	0.366013	0.73134	T	0.23211	0.76920	D	0.0956334	0.76619	D	0.997612833976746	0.91988	D	0.970303	0.89317	D	0.96886563	0.98153	0.88045895	0.93594	0.96886563	0.98153	0.88045895	0.93594	-17.118	0.99008	D	.	.	0.999	0.98765	P	.;.;.;.	.;.;.;.	3.616746	0.51161	23.1	0.9928480025877614	0.58043	0.87022	0.46439	D	AEFBI	0.686411	0.64809	D	0.0378907468480801	0.43587	2.648657	-0.0492109747885764	0.37524	2.19827	0.0661472356186695	0.15384	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.81	0.019	0.13441	0.292000	0.18766	1.715000	0.28221	-0.681000	0.04224	0.982000	0.35529	1.000000	0.68203	0.977000	0.56843	0.4191:0.0:0.5809:0.0	11.520	0.49794	731	0.54177	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	551.23	39	chr16	14582206	.	G	C	551.23	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-2.814;DP=853;ExcessHet=3.1439;FS=358.834;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=0.89;ReadPosRankSum=1.7;SOR=11.434	GT:AD:DP:GQ:PL	0/1:89,35:124:59:59,0,1458	2	0	4	1
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	509.4	33	chr16	14667707	.	GCCCC	G	509.4	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.08;DP=285;ExcessHet=0.3476;FS=60.878;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=3.8;ReadPosRankSum=0.563;SOR=6.439	GT:AD:DP:GQ:PL	0/1:49,8:57:99:108,0,1816	5	0	2	0
chr16	14667711	14667711	-	TGGG	exonic	BFAR	.	frameshift insertion	BFAR:NM_001330500:exon6:c.862_863insTGGG:p.I289Gfs*18,BFAR:NM_016561:exon8:c.1237_1238insTGGG:p.I414Gfs*18	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	435.86	32	chr16	14667711	.	C	CTGGG	435.86	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.64;DP=287;ExcessHet=0.4139;FS=69.45;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=3.66;ReadPosRankSum=0.847;SOR=6.725	GT:AD:DP:GQ:PL	0/1:43,3:53:71:71,0,1788	4	0	2	1
chr16	15873574	15873574	A	G	exonic	CEP20	.	nonsynonymous SNV	CEP20:NM_001304500:exon3:c.T167C:p.I56T,CEP20:NM_144600:exon4:c.T365C:p.I122T,CEP20:NM_001304499:exon5:c.T437C:p.I146T	.	432	1089	1	0	0	1	0.000458926	.	.	.	3296757	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.027	0.00171447179013	.	.	1.65e-05	0	0	0	0	3e-05	0	0	1.29e-05	2	154602	rs769626874	3.763e-05	3.762e-05	3.948e-05	3.575e-05	0.0009	2.96e-05	2.656e-05	0.0003	0.0002	0	0	0	0	0	0.0009	4.317e-05	3.312e-05	0	6.57e-06	6.566e-06	1.285e-05	0	6.545e-05	0	0	.	.	0	0	6.545e-05	0	0	0	0	0	0	0	0.727	0.03846	T	0.583	0.08419	T	0.001	0.07471	B	0.004	0.10090	B	0.444040	0.04777	N	1.292320	0.787086	0.34339	D	1.735	0.44892	L	.	.	.	0.25	0.04456	N	0.055	0.08506	-1.0336	0.19300	T	0.045	0.19234	T	9	0.044449806	0.03403	T	0.001714	0.02856	T	0.027	0.05988	0.386	0.40624	0.0551355673512	0.04727	0.052995925729285756	0.05241	0.0160666637987	0.01538	0.335759282112	0.15803	T	0.004462	0.05862	T	-0.262741	0.12582	T	-0.45882	0.26729	T	0.0236721020191908	0.01104	T	0.60064	0.26349	T	0.03097581	0.02854	0.039078433	0.03920	0.03097581	0.02853	0.039078433	0.03920	-2.557	0.06183	T	.	.	0.119	0.35077	B	.;.;.;.	.;.;.;.	1.538715	0.19735	14.41	0.80630096731018397	0.13294	0.30597	0.24123	N	AEFBIJ	0.050083	0.08717	N	-0.813547600339716	0.12963	0.635416	-0.715210129675138	0.16582	0.8778911	0.984883863224759	0.30791	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.63	1.48	0.21900	1.437000	0.34601	2.102000	0.30609	0.754000	0.88378	0.842000	0.30316	0.835000	0.27248	0.985000	0.61073	0.4341:0.305:0.1133:0.1476	1.606	0.02523	624	0.65661	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	345.27	34	chr16	15873574	.	A	G	345.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.149;DP=198;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.51;ReadPosRankSum=1.43;SOR=0.693	GT:AD:DP:GQ:PL	0/1:15,15:30:99:355,0,359	5	0	1	1
chr16	16114882	16114882	C	T	exonic	ABCC1	.	nonsynonymous SNV	ABCC1:NM_004996:exon23:c.C3196T:p.R1066W	.	414	1098	10	0	0	10	0.00453309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.728	0.189988391345	0.0009	0.000399361	0.0011	0	0.0003	0.0005	0	0.0014	0.0023	0.0018	0.001022	158	154602	rs199773531	0.0011	0.0011	0.0010	0.0011	0.0071	0.0010	0.0010	0.0054	0.0048	0.0001	0.0008	3.828e-05	0.0005	0.0005	0.0071	0.0011	0.0013	0.0018	0.0006	0.0006	0.0005	0.0007	0.0010	0.0005	0.0005	0.0008	0.0007	0.0002	0	0.0003	0.0003	0.0004	0.0006	0.0068	0.0010	0.0009	0.0010	0.003	0.68238	D	0.005	0.72224	D	0.786	0.44460	P	0.343	0.42509	B	0.000020	0.62929	D	0.122813	0.999967	0.52935	D	2.66	0.77858	M	-2.64	0.90147	D	-3.82	0.71997	D	0.641	0.74644	0.902	0.95697	D	0.744	0.91277	D	10	0.11178079	0.20944	T	0.189988	0.86096	D	0.728	0.90457	.	.	0.929634866673	0.92891	0.7974774384322526	0.79700	1.11752430456	0.78209	0.732518315315	0.71874	T	0.725907	0.92290	D	-0.0768221	0.40229	T	0.110398	0.77599	D	0.11234474927187	0.13665	T	0.987451	0.95727	D	0.7889944	0.83210	0.7374544	0.84482	0.7889944	0.83212	0.7374544	0.84483	-11.871	0.84217	D	.	.	0.196	0.44961	B	.;.	.;.	5.074918	0.84663	28.4	0.99881331820849628	0.95733	0.90645	0.51994	D	AEFDGBI	0.626549	0.60933	D	0.321772958292372	0.57267	3.893477	0.368500451452657	0.59629	4.142476	0.999939798034919	0.46732	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.04	5.04	0.67293	1.977000	0.40211	2.184000	0.31153	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	0.0:1.0:0.0:0.0	17.386	0.87305	889	0.27310	ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain;ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane 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	0.006546	0.005051	0.009511	0.002924	0.050000	0.000000	0.012195	0.000000	0.07143	1598.46	39	chr16	16114882	.	C	T	1598.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.895;DP=306;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.55;ReadPosRankSum=0.171;SOR=0.738	GT:AD:DP:GQ:PL	0/1:52,66:118:99:1609,0,1115	6	0	1	0
chr16	29383301	29383301	T	C	exonic	NPIPB11	.	nonsynonymous SNV	NPIPB11:NM_001310137:exon8:c.A1631G:p.H544R	.	539	915	66	2	0	70	0.0368421	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.102607754237	.	.	0.0034	0.0006	0.0027	0.0010	0.0051	0.0041	0.0070	0.0029	0.0001153	3	26028	rs376109229	0.0004	0.0045	0.0004	0.0004	0.0008	0.0004	0.0004	0.0004	0.0004	0.0002	0.0006	0.0016	0.0002	0.0011	0.0008	0.0003	0.0005	0.0006	0.0008	0.0028	0.0007	0.0008	0.0010	0.0006	0.0006	0.0008	0.0007	0.0004	0	0.0010	0.0004	0	0.0010	0.0052	0.0010	0.0006	0.0003	0.714	0.03996	T	0.893	0.03108	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-0.49	0.02651	N	2.37	0.15964	T	0.3	0.04091	N	0.065	0.03726	-0.9529	0.40468	T	0.015	0.06282	T	4	0.010405421	0.00232	T	0.102608	0.77617	D	0.123	0.34020	0.182	0.09004	0.0666544352282	0.05500	0.017460914292579344	0.01701	.	.	.	.	.	0.002187	0.01585	T	-0.441885	0.01260	T	-0.872514	0.00719	T	0.00853633190419786	0.00104	T	0.472453	0.14032	T	0.05944767	0.12081	0.08600925	0.19898	0.05944767	0.12081	0.08600925	0.19897	0.7	0.00176	T	.	.	0.119	0.24498	B	.	.	-0.050767	0.03944	0.880	0.27293411967531173	0.01348	0.00096	0.00628	N	AEFI	0.029149	0.02698	N	-0.519074859421896	0.21463	1.139253	-0.565229626340505	0.20402	1.099045	1.09648973830877E-6	0.01202	0.651	0.46895	0	0.708844	0.79440	0	0.653264	0.51672	0	0.567892	0.33627	0	.	.	.	.	.	-1.331000	0.02779	-1.556000	0.05178	-0.897000	0.02353	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	774	0.48577	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	327.53	49	chr16	29383301	.	T	C	327.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.385;DP=384;ExcessHet=0;FS=13.071;MLEAC=1;MLEAF=0.071;MQ=50.88;MQRankSum=-1.425;QD=2.92;ReadPosRankSum=-3.942;SOR=2.411	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:97,15:112:99:0|1:29383231_G_T:338,0,4028:29383231	6	0	1	0
chr16	30986970	30986970	C	T	exonic	HSD3B7	.	nonsynonymous SNV	HSD3B7:NM_025193:exon6:c.C662T:p.P221L	Bile acid synthesis defect, congenital, 1, Autosomal recessive	1	1516	5	0	0	5	0.00164636	.	.	.	2368766	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.367	0.0600088840785	.	.	5.123e-05	0	0	0	0	3.119e-05	0	0.0002	3.88e-05	6	154602	rs760795184	2.533e-05	2.531e-05	1.907e-05	3.165e-05	0.0002	1.869e-05	1.632e-05	9.792e-05	7.839e-05	0	0	0	2.52e-05	0	0	1.619e-05	6.626e-05	0.0002	6.57e-06	6.567e-06	1.284e-05	0	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.013	0.53900	D	0.074	0.42976	T	0.999	0.77913	D	0.981	0.75168	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.3	0.65703	M	-0.02	0.62918	T	-4.8	0.80682	D	0.77	0.76760	-0.4119	0.71649	T	0.403	0.75395	T	10	0.8574314	0.84946	D	0.060009	0.67859	D	0.367	0.68670	.	.	0.863288365034	0.86196	0.8329859681696861	0.83257	0.953755764185	0.72739	0.589620351791	0.51441	T	0.706375	0.91588	D	-0.0596841	0.42958	T	-0.0638294	0.66062	T	0.875003814697266	0.52487	D	0.861914	0.55630	D	0.56329495	0.70691	0.46565235	0.68992	0.56329495	0.70693	0.46565235	0.68992	-10.882	0.79007	D	0.5268782120739659	0.59831	0.571	0.67685	P	.	.	4.515034	0.70739	25.6	0.99899197684066066	0.97124	0.99507	0.96863	D	AEFDBI	0.832523	0.75089	D	0.72493691439895	0.81265	7.48233	0.726278211616267	0.84375	8.274133	1.0	0.98316	0.653496	0.48692	0	0.601575	0.49859	0	0.596874	0.31795	0	0.567892	0.33627	0	.	.	5.65	5.65	0.86881	3.260000	0.51225	7.641000	0.63200	0.596000	0.33519	0.995000	0.38783	1.000000	0.68203	0.492000	0.28837	0.0:1.0:0.0:0.0	18.498	0.90820	37	0.98026	3-beta hydroxysteroid dehydrogenase/isomerase	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1190.27	36	chr16	30986970	.	C	T	1190.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.201;DP=267;ExcessHet=0;FS=2.027;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.87;ReadPosRankSum=0.371;SOR=0.97	GT:AD:DP:GQ:PL	0/1:25,50:75:99:1200,0,528	5	0	1	1
chr16	31111902	31111902	A	T	exonic	BCKDK	.	nonsynonymous SNV	BCKDK:NM_001271926:exon10:c.A879T:p.K293N,BCKDK:NM_001122957:exon11:c.A969T:p.K323N,BCKDK:NM_005881:exon11:c.A969T:p.K323N	Branched-chain ketoacid dehydrogenase kinase deficiency	7	1514	1	0	0	1	0.000330142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.170	0.00752141746772	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.247	0.17296	T	0.396	0.15206	T	0.0	0.02946	B	0.001	0.04355	B	0.000631	0.42799	D	0.286199	0.625518	0.30743	N	0.66	0.16226	N	-1.02	0.76300	T	0.07	0.10480	N	0.208	0.23253	-0.9705	0.37094	T	0.197	0.55215	T	10	0.10603279	0.19627	T	0.007521	0.19952	T	0.170	0.43303	0.553	0.66995	0.562729887668	0.55935	0.3893388727411269	0.38848	0.649957011569	0.58288	0.300687372684	0.10503	T	0.103708	0.41260	T	-0.151186	0.28125	T	-0.454945	0.27151	T	0.232382386922836	0.22064	T	0.80142	0.47570	T	0.038978733	0.05295	0.037779145	0.03503	0.038978733	0.05295	0.037779145	0.03503	-4.172	0.29652	T	0.1061061244724306	0.08491	0.168	0.36928	B	.;.;.;.	.;.;.;.	1.302262	0.17042	12.92	0.97779622464268157	0.35925	0.21268	0.21341	N	AEFDBCI	0.273390	0.38881	N	-0.720089357624492	0.15458	0.7791644	-0.62261035347524	0.18912	1.012453	0.999417780749428	0.39577	0.732398	0.92422	0	0.697927	0.68747	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.66	0.843	0.18076	-1.626000	0.02137	.	.	0.691000	0.84096	0.000000	0.06391	1.000000	0.68203	0.981000	0.58702	0.3161:0.1798:0.2778:0.2263	0.394	0.00387	52	0.97609	Histidine kinase/HSP90-like ATPase|Signal transduction histidine kinase-related protein, C-terminal|Histidine kinase domain|Histidine kinase/HSP90-like ATPase|Histidine kinase/HSP90-like ATPase;.;.;Histidine kinase/HSP90-like ATPase|Signal transduction histidine kinase-related protein, C-terminal|Histidine kinase domain|Histidine kinase/HSP90-like ATPase|Histidine kinase/HSP90-like ATPase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1534.63	34	chr16	31111902	.	A	T	1534.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.084;DP=338;ExcessHet=0;FS=2.073;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.3;ReadPosRankSum=-0.588;SOR=0.505	GT:AD:DP:GQ:PL	0/1:82,67:149:99:1545,0,1948	6	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	0.07143	1759.44	34	chr16	50304430	.	C	T	1759.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.839;DP=329;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=0.186;SOR=0.659	GT:AD:DP:GQ:PL	0/1:59,75:134:99:1770,0,1341	6	0	1	0
chr16	50669118	50669118	A	G	exonic	SNX20	.	nonsynonymous SNV	SNX20:NM_153337:exon4:c.T313C:p.Y105H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.00300890923964	.	.	5.021e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs775853805	4.49e-06	8.904e-06	1.484e-06	7.546e-06	6.413e-05	1.62e-06	1.06e-06	2.473e-05	1.56e-05	0	0	0	0	0	0	9.788e-07	0	6.413e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	0.68	0.51952	T	0.26	0.04380	N	0.105	0.08925	-1.0079	0.27572	T	0.075	0.30303	T	8	0.046744525	0.03904	T	0.003009	0.06457	T	0.056	0.15993	0.142	0.04556	0.17258766438	0.16869	.	.	.	.	.	.	.	.	.	.	-0.461988	0.00955	T	-0.705088	0.05552	T	0.0242726447613716	0.01180	T	.	.	.	.	.	.	.	.	.	.	.	-1.936	0.02949	T	.	.	.	.	.	.	.	0.168040	0.05572	2.031	0.21305222156409784	0.00806	0.00181	0.01060	N	AEFBHCI	0.018182	0.00532	N	-1.44978341585961	0.02218	0.09771435	-1.5702585569571	0.01840	0.08383224	0.999813033384949	0.43459	0.615465	0.37627	0	0.633656	0.55848	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.38	-2.28	0.06438	-0.030000	0.12257	0.108000	0.14741	-2.084000	0.00402	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.435:0.0:0.3459:0.2191	2.621	0.04619	763	0.50172	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	449.29	34	chr16	50669118	.	A	G	449.29	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-2.191;DP=440;ExcessHet=0.3476;FS=161.402;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=1.57;ReadPosRankSum=0.99;SOR=7.476	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:118,19:137:99:0|1:50669118_A_G:232,0,4198:50669118	5	0	2	0
chr16	57813880	57813880	A	G	exonic	LOC388282	.	nonsynonymous SNV	LOC388282:NM_001278081:exon2:c.A295G:p.R99G	.	522	966	32	2	0	36	0.0182927	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00778754	.	.	.	.	.	.	.	.	0.0117181	305	26028	rs144914335	0.0143	0.0084	0.0145	0.0140	0.0206	0.0141	0.0140	0.0188	0.0181	0.0014	0.0030	0.0134	0.0006	0.0069	0.0204	0.0144	0.0164	0.0206	0.0088	0.0088	0.0091	0.0084	0.0206	0.0084	0.0082	0.0173	0.0161	0.0019	0.0329	0.0048	0.0115	0.0002	0.0056	0.0103	0.0137	0.0109	0.0206	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	439.49	33	chr16	57813880	.	A	G	439.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.862;DP=211;ExcessHet=0;FS=2.944;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=-1.201;SOR=0.317	GT:AD:DP:GQ:PL	0/1:19,18:37:99:450,0,540	6	0	1	0
chr16	66730161	66730161	T	A	exonic	DYNC1LI2	.	nonsynonymous SNV	DYNC1LI2:NM_001286157:exon7:c.A761T:p.K254M,DYNC1LI2:NM_001323955:exon7:c.A875T:p.K292M,DYNC1LI2:NM_006141:exon8:c.A992T:p.K331M	.	428	1091	3	0	0	3	0.001373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.282	0.0282953865049	.	.	3.303e-05	0	0	0	0	6.005e-05	0	0	2.59e-05	4	154602	rs754383868	1.779e-05	1.779e-05	1.634e-05	1.925e-05	2.987e-05	1.237e-05	1.051e-05	7.31e-06	5.72e-06	2.987e-05	0	0.0003	0	0	0	1.259e-05	4.968e-05	1.16e-05	3.942e-05	3.94e-05	2.569e-05	5.379e-05	2.94e-05	1.715e-05	1.129e-05	4.88e-06	1.83e-06	0	0	0	0.0009	0	0	0	2.94e-05	0.0005	0	0.001	0.78490	D	0.009	0.76473	D	0.996	0.68779	D	0.967	0.71530	D	0.000002	0.62929	D	0.133902	0.999954	0.81001	D	2.26	0.64354	M	1.76	0.25996	T	-4.22	0.76254	D	0.446	0.50418	-0.7767	0.56487	T	0.170	0.51149	T	10	0.30259448	0.47795	T	0.028295	0.50995	D	0.282	0.59981	.	.	0.311241185304	0.30733	0.6177725307688289	0.61710	1.56040649893	0.88029	0.646061718464	0.59425	T	0.155432	0.49716	T	-0.0986371	0.36653	T	-0.315816	0.43031	T	0.907461643218994	0.56176	D	0.948405	0.89869	D	0.48950958	0.66473	0.36006206	0.61455	0.48950958	0.66474	0.36006206	0.61454	-11.836	0.84042	D	.	.	0.342	0.62975	A	.;.;.	.;.;.	4.821418	0.78539	26.9	0.9965353980043502	0.77442	0.92173	0.55108	D	AEFBCI	0.605022	0.59589	D	0.686584917617797	0.78753	6.935625	0.647724898944666	0.78442	6.87697	0.999995680105314	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.2	5.2	0.71720	4.065000	0.57229	7.894000	0.73204	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	15.219	0.72990	180	0.92993	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	614.44	27	chr16	66730161	.	T	A	614.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.24;DP=234;ExcessHet=0;FS=2.151;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.91;ReadPosRankSum=0.231;SOR=1.088	GT:AD:DP:GQ:PL	0/1:37,25:64:99:625,0,871	6	0	1	0
chr16	66755044	66755044	G	A	exonic	TERB1	.	nonsynonymous SNV	TERB1:NM_001136505:exon19:c.C2116T:p.R706W	.	431	1070	21	0	0	21	0.00971772	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.340	0.0990114348706	.	0.00139776	0.0020	0	0.0024	0	0	0.0016	0	0.0030	0.0003687	57	154602	rs200191895	0.0009	0.0008	0.0008	0.0010	0.0035	0.0008	0.0008	0.0031	0.0030	0.0001	0.0011	0.0025	0	0.0001	0.0033	0.0007	0.0013	0.0035	0.0008	0.0008	0.0008	0.0007	0.0027	0.0007	0.0006	0.0016	0.0013	0.0002	0	0.0015	0.0017	0.0004	0.0002	0	0.0009	0.0028	0.0027	.	.	.	0.0	0.92824	D	0.804	0.45171	P	0.244	0.38795	B	.	.	.	.	0.945505	0.81001	D	2.65	0.77586	M	-0.01	0.62762	T	.	.	.	0.915	0.91736	-0.7112	0.59893	T	0.196	0.55100	T	9	0.063039124	0.08152	T	0.099011	0.77036	D	0.340	0.66202	.	.	0.632468194898	0.62945	0.8632737748027692	0.86291	.	.	0.436707556248	0.30127	T	0.046743	0.27515	T	-0.144685	0.29145	T	0.0169721	0.71435	D	0.0380087372379942	0.03334	T	0.906209	0.66975	D	0.12773815	0.29883	0.19236793	0.42747	0.12773815	0.29883	0.19236793	0.42746	-13.416	0.91004	D	.	.	0.558	0.67132	A	.;.	.;.	3.666294	0.52110	23.2	0.9401128398898142	0.24113	0.41925	0.26765	N	AEFDBHCI	0.372404	0.45806	N	0.109644642783173	0.46912	2.924414	0.10288310517962	0.44696	2.746361	0.999644148923686	0.41316	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.76	0.895	0.18380	0.258000	0.18156	2.010000	0.30161	0.676000	0.76740	0.997000	0.40164	1.000000	0.68203	0.929000	0.46594	0.084:0.0:0.2612:0.6547	8.173	0.30425	67	0.97183	SANT/Myb domain|SANT/Myb domain;SANT/Myb domain|SANT/Myb 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	0.003030	0.000000	0.000000	0.000000	0.000000	0.000000	0.015152	0.000000	0.08333	389.27	20	chr16	66755044	.	G	A	389.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.731;DP=178;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.65;ReadPosRankSum=-0.057;SOR=0.628	GT:AD:DP:GQ:PL	0/1:24,21:45:99:399,0,519	5	0	1	1
chr16	67155474	67155474	G	A	exonic	TRADD	.	nonsynonymous SNV	TRADD:NM_001323552:exon3:c.C332T:p.S111L,TRADD:NM_003789:exon3:c.C332T:p.S111L	.	425	1087	10	0	0	10	0.00457875	.	.	.	2796864	TRADD-related_disorder	.	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.043	0.0070462457776	.	0.000399361	0.0015	0	0.0007	0	0	0.0021	0.0021	0.0013	0.0008473	131	154602	rs201869508	0.0012	0.0011	0.0011	0.0013	0.0013	0.0011	0.0011	0.0012	0.0012	0.0003	0.0005	0.0002	0	0.0009	0.0012	0.0013	0.0011	0.0011	0.0011	0.0011	0.0011	0.0011	0.0020	0.0010	0.0009	0.0017	0.0016	0.0002	0	0.0007	0	0	0.0009	0	0.0020	0.0014	0	0.23	0.18308	T	0.329	0.18789	T	0.02	0.18235	B	0.003	0.08700	B	0.368333	0.13566	N	0.736603	1	0.08975	N	1.8	0.47472	L	.	.	.	-1.23	0.31170	N	0.183	0.19861	-1.0389	0.17648	T	0.070	0.28609	T	9	0.007817358	0.00177	T	0.007046	0.18676	T	0.043	0.11576	.	.	0.102598925029	0.09809	0.20950885522960405	0.20866	0.680249482068	0.59982	0.653772592545	0.60521	T	0.160002	0.50368	T	-0.492387	0.00631	T	-0.484047	0.24017	T	0.00383704534073145	0.00041	T	0.671933	0.28057	T	0.056588966	0.11155	0.034864884	0.02630	0.056588966	0.11154	0.034864884	0.02630	-3.674	0.18935	T	.	.	0.109	0.24934	B	.;.	.;.	2.102246	0.26750	17.23	0.75111125111681099	0.10949	0.01043	0.03895	N	ALL	0.079436	0.16045	N	-1.03109089541112	0.07963	0.3717705	-1.03529601119312	0.09016	0.4462508	0.999999999999999	0.74766	0.789315	0.99827	0	0.768056	0.99558	0	0.666236	0.60216	0	0.48735	0.07195	2	.	.	5.0	1.8	0.24069	1.163000	0.31408	2.644000	0.33772	-0.165000	0.11486	0.074000	0.22182	0.110000	0.22784	0.000000	0.00833	0.0847:0.3013:0.614:0.0	8.055	0.29759	48	0.97687	TRADD, N-terminal|TRADD, 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	0.003546	0.000000	0.005450	0.000000	0.000000	0.000000	0.009259	0.000000	0.07143	797.49	35	chr16	67155474	.	G	A	797.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.623;DP=260;ExcessHet=0;FS=0.951;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.92;ReadPosRankSum=2;SOR=0.904	GT:AD:DP:GQ:PL	0/1:40,33:73:99:808,0,1001	6	0	1	0
chr16	67401044	67401044	C	T	exonic	ZDHHC1	.	nonsynonymous SNV	ZDHHC1:NM_001323627:exon4:c.G341A:p.S114N,ZDHHC1:NM_013304:exon4:c.G341A:p.S114N	.	421	1092	9	0	0	9	0.00410397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.0110000264414	0.0011	0.000399361	0.0012	0	0.0005	0	0.0003	0.0019	0.0011	0.0010	0.0011513	178	154602	rs139962485	0.0013	0.0013	0.0012	0.0014	0.0015	0.0013	0.0012	0.0014	0.0014	0.0002	0.0006	0.0011	0	0.0007	0.0012	0.0015	0.0012	0.0011	0.0012	0.0012	0.0012	0.0012	0.0021	0.0011	0.0010	0.0018	0.0017	0.0002	0	0.0008	0.0014	0	0.0008	0.0034	0.0021	0.0014	0.0002	0.24	0.17701	T	0.78	0.04330	T	0.4	0.34852	B	0.191	0.36391	B	0.000398	0.44960	N	0.200137	0.988828	0.40835	D	0.135	0.08676	N	1.17	0.37910	T	0.67	0.02263	N	0.151	0.15469	-1.0854	0.06335	T	0.046	0.19800	T	10	0.012678176	0.00272	T	0.011	0.28166	T	0.036	0.09122	.	.	0.0138822411134	0.00435	0.588301112371834	0.58760	0.170231762195	0.19195	0.549704968929	0.45817	T	0.007891	0.07266	T	-0.583389	0.00184	T	-0.614765	0.11601	T	0.0121304225246354	0.00193	T	0.788221	0.42759	T	0.07843319	0.17860	0.07516831	0.16522	0.07843319	0.17859	0.07516831	0.16521	-3.469	0.16000	T	.	.	0.082	0.15251	B	.;.	.;.	2.093792	0.26636	17.19	0.99220569405259773	0.55901	0.75867	0.37169	D	AEFBHI	0.216164	0.34144	N	-0.312823284813694	0.28660	1.58268	-0.167388111980657	0.32744	1.865982	0.999948233524905	0.47345	0.634777	0.41761	0	0.588066	0.40923	0	0.645312	0.48771	0	0.645665	0.59343	0	.	.	6.06	4.12	0.47504	1.838000	0.38851	5.982000	0.52185	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.266000	0.23669	0.0:0.7655:0.0:0.2345	9.548	0.38458	20	0.98525	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.000000	0.07143	1207.44	34	chr16	67401044	.	C	T	1207.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.271;DP=325;ExcessHet=0;FS=2.248;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.94;ReadPosRankSum=0.663;SOR=0.498	GT:AD:DP:GQ:PL	0/1:80,55:135:99:1218,0,1975	6	0	1	0
chr16	67843077	67843077	C	G	exonic	THAP11	.	nonsynonymous SNV	THAP11:NM_020457:exon1:c.C523G:p.P175A	.	415	1106	1	0	0	1	0.000451875	.	.	.	1488700	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.078	0.0248896189551	0.0005	0.000199681	0.0006	0	0.0002	0	0.0003	0.0009	0	0.0003	0.0005045	78	154602	rs139987005	0.0007	0.0007	0.0006	0.0008	0.0008	0.0007	0.0006	0.0007	0.0007	0.0002	6.708e-05	0.0002	0	0.0006	0.0007	0.0008	0.0007	0.0007	0.0008	0.0008	0.0009	0.0008	0.0014	0.0007	0.0007	0.0012	0.0011	9.62e-05	0	0.0007	0	0	0.0007	0.0034	0.0014	0	0.0014	0.576	0.06067	T	0.412	0.14456	T	0.0	0.02946	B	0.001	0.04355	B	0.007841	0.31171	N	0.289314	0.973606	0.39037	D	0.345	0.11182	N	1.36	0.34452	T	-0.11	0.08653	N	0.11	0.09631	-1.0665	0.10200	T	0.061	0.25346	T	10	0.016415954	0.00346	T	0.02489	0.47875	T	0.078	0.22779	.	.	0.600985507913	0.59780	0.4472036716442254	0.44638	1.14610708917	0.79080	0.620144605637	0.55750	T	0.115749	0.43457	T	-0.574585	0.00208	T	-0.604604	0.12427	T	0.0309931167431391	0.02145	T	0.647535	0.25853	T	0.070980586	0.15680	0.08470978	0.19505	0.06445155	0.13674	0.102564625	0.24586	-2.952	0.09673	T	0.1045169992544018	0.08184	0.055	0.00405	B	.	.	1.673792	0.21340	15.16	0.71146449444528803	0.09531	0.08913	0.14769	N	ALL	0.101981	0.20468	N	-0.653698603280938	0.17353	0.8921959	-0.59454525356633	0.19634	1.054337	0.999999999991333	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.273489	0.05413	2	.	.	5.09	5.09	0.68647	3.727000	0.54711	4.863000	0.45489	0.596000	0.33519	0.783000	0.29509	1.000000	0.68203	0.153000	0.20410	0.0:0.7842:0.2157:0.0	12.674	0.56247	8	0.99202	.	.	.	.	.	.	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	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	1301.53	40	chr16	67843077	.	C	G	1301.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.482;DP=351;ExcessHet=0;FS=0.632;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.3;ReadPosRankSum=-0.495;SOR=0.62	GT:AD:DP:GQ:PL	0/1:82,58:140:99:1312,0,2121	6	0	1	0
chr16	67930041	67930041	C	T	exonic	CTRL	.	nonsynonymous SNV	CTRL:NM_001907:exon7:c.G688A:p.G230S	.	429	1086	7	0	0	7	0.00321248	.	.	.	2224657	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.801	0.273810103382	.	.	0.0002	0	0.0002	0	0	0.0001	0	0.0011	0.000194	30	154602	rs774504385	0.0002	0.0002	0.0001	0.0002	0.0013	0.0002	0.0002	0.0011	0.0010	2.987e-05	0.0002	0.0003	0	0	0.0012	9.712e-05	0.0002	0.0013	0.0002	0.0002	0.0001	0.0002	0.0006	0.0001	8.723e-05	0.0002	8.996e-05	2.415e-05	0	0	0.0009	0	0	0.0032	0.0002	0.0014	0.0006	.	.	.	0.016	0.60972	D	0.999	0.77913	D	0.994	0.82059	D	0.000776	0.41888	D	0.239350	1	0.81001	D	4.59	0.99231	H	-6.1	0.99525	D	.	.	.	0.64	0.65245	0.679	0.92908	D	0.710	0.90042	D	9	0.65592897	0.69873	D	0.27381	0.89979	D	.	.	.	.	0.994736968977	0.99468	0.8379203363834064	0.83752	0.530354471859	0.50573	0.468298435211	0.34447	T	0.791234	0.97718	D	0.257047	0.79256	D	0.561076	0.95963	D	0.374970080933562	0.27989	T	0.987301	0.95681	D	0.728	0.79633	0.70734966	0.82744	0.728	0.79635	0.70734966	0.82745	-11.72	0.83461	D	.	.	0.901	0.82802	P	.;.	.;.	4.394928	0.67856	25.2	0.99874558226117893	0.95160	0.96662	0.70275	D	AEFBCI	0.699623	0.65691	D	0.84156867909473	0.88622	9.648298	0.701370077494279	0.82483	7.778139	0.999999999999999	0.74766	0.631515	0.41029	0	0.697927	0.68747	0	0.696353	0.63694	0	0.491896	0.07777	0	.	.	5.74	5.74	0.90070	6.176000	0.71885	2.748000	0.34514	0.549000	0.26987	1.000000	0.71638	0.980000	0.30356	0.855000	0.40485	0.0:1.0:0.0:0.0	19.920	0.97085	8	0.99202	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1481.44	33	chr16	67930041	.	C	T	1481.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.491;DP=305;ExcessHet=0;FS=5.703;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.55;ReadPosRankSum=-1.797;SOR=0.811	GT:AD:DP:GQ:PL	0/1:61,57:118:99:1492,0,1565	6	0	1	0
chr16	67945400	67945400	C	A	exonic	SLC12A4	.	nonsynonymous SNV	SLC12A4:NM_001145962:exon21:c.G3007T:p.D1003Y,SLC12A4:NM_001145961:exon22:c.G2983T:p.D995Y,SLC12A4:NM_001145963:exon22:c.G2983T:p.D995Y,SLC12A4:NM_001145964:exon22:c.G2908T:p.D970Y,SLC12A4:NM_005072:exon22:c.G3001T:p.D1001Y	.	429	1087	6	0	0	6	0.00275229	.	.	.	2761258	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.082	0.021660994623	.	.	0.0002	0	0.0002	0	0	6.016e-05	0	0.0008	0.0001229	19	154602	rs751326359	9.989e-05	9.987e-05	5.446e-05	0.0001	0.0010	8.647e-05	8.135e-05	0.0008	0.0008	2.987e-05	4.474e-05	0.0003	0	0	0.0010	3.148e-05	0.0001	0.0010	8.541e-05	8.536e-05	6.423e-05	0.0001	0.0006	4.957e-05	3.962e-05	0.0002	8.985e-05	2.412e-05	0	0	0.0009	0	0	0	5.88e-05	0.0010	0.0006	0.004	0.68238	D	0.007	0.69154	D	0.04	0.23728	B	0.105	0.31087	B	0.000748	0.42006	D	0.237792	0.999398	0.81001	D	0	0.06538	N	0.96	0.42888	T	-2.28	0.50830	N	0.368	0.43803	-0.9896	0.32702	T	0.078	0.31193	T	10	0.07414466	0.11295	T	0.021661	0.44458	T	0.082	0.23913	.	.	0.570232391912	0.56690	0.32774334912053904	0.32687	0.605868047758	0.55455	0.477193027735	0.35670	T	0.416865	0.76969	T	-0.379022	0.03160	T	-0.373563	0.36474	T	0.0430555994315282	0.04247	T	0.955704	0.83632	D	0.23344924	0.46149	0.20587438	0.44777	0.23344924	0.46149	0.20587438	0.44776	-9.432	0.70666	D	.	.	0.171	0.44501	B	.;.;.;.;.;.	.;.;.;.;.;.	3.777090	0.54290	23.5	0.98787174072175021	0.46222	0.92418	0.55666	D	AEFDGBCIJ	0.744300	0.68733	D	-0.0306868272694232	0.40470	2.403841	0.180558402993533	0.48783	3.089607	0.999999999909678	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.43	5.43	0.79006	4.634000	0.61023	4.057000	0.41556	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.995000	0.73285	0.0:0.9242:0.0:0.0758	12.575	0.55713	8	0.99202	SLC12A transporter, C-terminal;.;SLC12A transporter, C-terminal;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1262.27	35	chr16	67945400	.	C	A	1262.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.391;DP=303;ExcessHet=0;FS=3.147;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.64;ReadPosRankSum=0.275;SOR=0.97	GT:AD:DP:GQ:PL	0/1:76,55:131:99:1272,0,1964	5	0	1	1
chr16	68695344	68695344	G	A	exonic	CDH3	.	nonsynonymous SNV	CDH3:NM_001317196:exon13:c.G1927A:p.V643I,CDH3:NM_001317195:exon14:c.G2092A:p.V698I,CDH3:NM_001793:exon14:c.G2092A:p.V698I	Ectodermal dysplasia, ectrodactyly, and macular dystrophy, Autosomal recessive;Hypotrichosis, congenital, with juvenile macular dystrophy, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1012309	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.206	0.0122897739445	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.473e-06	5.472e-06	5.445e-06	5.501e-06	0.0002	2.35e-06	1.7e-06	7.2e-07	2e-07	2.987e-05	0	0	0	0	0.0002	2.698e-06	4.968e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.03091	T	0.936	0.52359	P	0.462	0.46509	P	0.003078	0.35480	N	0.000000	0.915618	0.37568	D	-0.18	0.04256	N	-1.04	0.76561	T	0.0	0.07882	N	0.255	0.28849	-0.6763	0.61543	T	0.170	0.51003	T	10	0.16948637	0.31558	T	0.01229	0.30730	T	0.206	0.49396	0.615	0.74884	0.782186682139	0.78017	0.4440869422693172	0.44326	0.394572771458	0.40613	0.563964128494	0.47827	T	0.075301	0.35144	T	-0.142283	0.29527	T	-0.442156	0.28567	T	0.814851105213165	0.47395	D	0.882412	0.62412	D	0.023941038	0.01178	0.036179133	0.03012	0.023941038	0.01178	0.036179133	0.03012	-5.728	0.43942	T	0.08848860924739031	0.05309	0.081	0.13456	B	.;.	.;.	3.457791	0.48178	22.6	0.98129167608387269	0.38506	0.26440	0.22994	N	AEFDBI	0.207347	0.33352	N	-0.19691816721468	0.33261	1.885086	-0.0831481682832097	0.36085	2.095657	0.996930613796013	0.35130	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.542086	0.14980	0	.	.	5.13	5.13	0.69729	0.672000	0.24868	7.508000	0.59580	0.676000	0.76740	0.176000	0.24013	1.000000	0.68203	0.966000	0.53164	0.093:0.0:0.907:0.0	9.975	0.40948	300	0.87974	Cadherin, cytoplasmic domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1274.46	36	chr16	68695344	.	G	A	1274.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.05;DP=299;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.37;ReadPosRankSum=0.795;SOR=0.739	GT:AD:DP:GQ:PL	0/1:52,51:103:99:1285,0,1183	6	0	1	0
chr16	70251528	70251528	C	A	exonic	EXOSC6	.	nonsynonymous SNV	EXOSC6:NM_058219:exon1:c.G373T:p.A125S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.583019420939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.095e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.45039	D	0.798	0.04091	T	0.004	0.12183	B	0.05	0.25278	B	0.035639	0.24620	U	0.364745	1	0.08975	N	1.015	0.25427	L	-0.1	0.64264	T	-1.06	0.27669	N	0.194	0.21319	-1.0598	0.11805	T	0.121	0.42208	T	10	0.23337927	0.40354	T	0.583019	0.96270	D	0.105	0.29889	0.512	0.61000	0.614704429015	0.61159	0.3033568989701552	0.30248	1.49531241128	0.86950	0.933788537979	0.99188	D	0.049705	0.28385	T	-0.121323	0.32907	T	-0.412049	0.31988	T	0.380386590957642	0.28197	T	0.414759	0.10842	T	0.29787484	0.52713	0.21661869	0.46296	0.29787484	0.52713	0.21661869	0.46295	-5.037	0.37239	T	.	.	0.162	0.35849	B	.	.	2.817044	0.37099	20.4	0.99024060320077389	0.50655	0.34202	0.25011	N	AEFDBHCIJ	0.062688	0.12065	N	-0.510310208848936	0.21745	1.156309	-0.404985932916856	0.24850	1.363155	0.999999999892469	0.74766	0.441713	0.08003	0	0.218748	0.04544	0	0.52208	0.10781	0	0.492483	0.08430	1	.	.	3.66	2.69	0.30923	1.132000	0.31031	4.071000	0.41665	0.417000	0.20760	0.053000	0.21524	1.000000	0.68203	0.230000	0.22734	0.0:0.6369:0.2339:0.1291	4.511	0.11318	152	0.94023	Exoribonuclease, phosphorolytic domain 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	.	.	.	.	.	.	.	.	0.07143	402.56	7	chr16	70251528	.	C	A	402.56	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.121;DP=169;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.99;ReadPosRankSum=0.716;SOR=0.474	GT:AD:DP:GQ:PL	0/1:14,17:31:99:413,0,351	6	0	1	0
chr16	70664739	70664739	C	T	exonic	MTSS2	.	nonsynonymous SNV	MTSS2:NM_138383:exon14:c.G1330A:p.A444T	.	.	.	.	.	.	.	.	.	.	.	3986540	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.130	0.0349362481155	7.7e-05	.	7.149e-05	0	0	0	0.0002	0.0001	0	0	5.17e-05	8	154602	rs149700961	5.686e-05	5.814e-05	6.543e-05	4.82e-05	0.0002	4.683e-05	4.307e-05	4.614e-05	4.199e-05	0	2.245e-05	0	2.521e-05	0.0002	0.0002	5.758e-05	8.293e-05	1.163e-05	5.256e-05	5.253e-05	3.853e-05	6.724e-05	0.0001	2.557e-05	1.83e-05	4.765e-05	3.339e-05	0	0	0	0	0	9.406e-05	0	0.0001	0	0	0.135	0.26192	T	0.101	0.40586	T	0.007	0.14184	B	0.002	0.06944	B	0.013723	0.28749	N	0.380763	0.997256	0.43744	D	2.32	0.66415	M	1.43	0.32958	T	-1.85	0.43334	N	0.806	0.80180	-1.0748	0.08390	T	0.071	0.29034	T	10	0.5023295	0.61620	D	0.034936	0.56012	D	0.130	0.35528	.	.	0.262679179196	0.25893	0.3349688043379199	0.33409	0.0361349943124	0.03815	0.786741733551	0.79946	T	0.108079	0.42081	T	-0.215591	0.18599	T	-0.359647	0.38094	T	0.233754515647888	0.22129	T	0.980602	0.93381	D	0.100441344	0.23715	0.10328368	0.24779	0.100441344	0.23715	0.10328368	0.24778	-8.31	0.63163	D	.	.	0.528	0.75356	A	.;.	.;.	4.159779	0.62465	24.5	0.99498997881872719	0.67916	0.98061	0.79268	D	AEFDBHCI	0.865829	0.78506	D	-0.25479660562004	0.30913	1.728201	-0.163454570184867	0.32893	1.875997	0.999999914288687	0.74766	0.787689	0.99735	0	0.588015	0.36545	0	0.0	0.00061	3	0.714379	0.83352	0	.	.	4.89	3.94	0.44807	7.855000	0.85281	5.867000	0.50493	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.545000	0.30055	0.0:0.9182:0.0:0.0818	12.668	0.56213	289	0.88525	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.08333	581.27	32	chr16	70664739	.	C	T	581.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.898;DP=218;ExcessHet=0;FS=7.45;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.57;ReadPosRankSum=2.07;SOR=0.949	GT:AD:DP:GQ:PL	0/1:30,25:55:99:591,0,678	5	0	1	1
chr16	81377486	81377486	C	G	exonic	GAN	.	nonsynonymous SNV	GAN:NM_001377486:exon10:c.C1045G:p.P349A,GAN:NM_022041:exon11:c.C1684G:p.P562A	Giant axonal neuropathy-1, Autosomal recessive	0	1494	28	0	0	28	0.00928382	.	.	.	361521	Giant_axonal_neuropathy_1|GAN-related_disorder|not_provided	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850,Orphanet:643|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.383	.	0.0034	0.00179712	0.0049	0.0008	0.0014	0	0.0113	0.0065	0.0044	0.0035	0.0046442	718	154602	rs79901179	0.0048	0.0048	0.0048	0.0048	0.0062	0.0047	0.0047	0.0050	0.0050	0.0006	0.0022	0.0052	0	0.0103	0.0062	0.0051	0.0034	0.0038	0.0038	0.0038	0.0041	0.0034	0.0056	0.0035	0.0034	0.0051	0.0049	0.0008	0	0.0018	0.0084	0	0.0083	0.0034	0.0056	0.0038	0.0023	.	.	.	0.266	0.22627	T	0.176	0.28893	B	0.039	0.23607	B	0.000000	0.84330	D	0.050138	0.999999	0.58761	D	0.805	0.20218	L	.	.	.	.	.	.	0.73	0.73105	-0.8091	0.54605	T	0.187	0.53691	T	10	0.010434002	0.00232	T	.	.	.	.	.	.	.	0.830301154916	0.82869	0.4923228135391192	0.49153	0.224810610211	0.25013	0.801771640778	0.82233	T	0.301873	0.67430	T	-0.111469	0.34527	T	0.0697175	0.74891	D	0.0124614641107791	0.00205	T	0.840716	0.51609	T	0.3801071	0.59324	0.31527206	0.57514	0.3453919	0.56706	0.29977193	0.56010	-6.424	0.49696	T	.	.	0.086	0.10594	B	.;.	.;.	3.943882	0.57728	23.9	0.98831565015238332	0.46969	0.98908	0.88470	D	AEFBI	0.559081	0.56804	D	-0.120362037651773	0.36506	2.111105	0.0445601467208831	0.41809	2.518089	0.999999999978716	0.74766	0.729952	0.87565	0	0.653731	0.59785	0	0.575934	0.27490	0	0.692231	0.68500	0	.	.	5.52	5.52	0.82153	6.082000	0.70966	7.704000	0.66446	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	19.430	0.94750	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	0	0	1	0	0.002014	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.003788	0.07143	2368.44	33	chr16	81377486	.	C	G	2368.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.4;DP=388;ExcessHet=0;FS=0.513;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.5;ReadPosRankSum=0.304;SOR=0.643	GT:AD:DP:GQ:PL	0/1:108,98:206:99:2379,0,2699	6	0	1	0
chr16	84179833	84179833	G	A	exonic	TAF1C	.	nonsynonymous SNV	TAF1C:NM_001243158:exon11:c.C722T:p.P241L,TAF1C:NM_001243157:exon12:c.C722T:p.P241L,TAF1C:NM_001243160:exon12:c.C287T:p.P96L,TAF1C:NM_001243159:exon14:c.C491T:p.P164L,TAF1C:NM_005679:exon14:c.C1718T:p.P573L,TAF1C:NM_001243156:exon15:c.C1640T:p.P547L,TAF1C:NM_139353:exon15:c.C1436T:p.P479L	.	416	1097	9	0	0	9	0.00408534	.	.	.	2817855	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.058	.	0.0035	0.00139776	0.0077	0.0015	0.0023	0.0006	0.0239	0.0095	0.0171	0.0052	0.0062612	968	154602	rs4150170	0.0054	0.0054	0.0052	0.0056	0.0055	0.0053	0.0052	0.0051	0.0050	0.0005	0.0023	0.0022	0.0005	0.0237	0.0044	0.0050	0.0053	0.0055	0.0056	0.0056	0.0051	0.0061	0.0071	0.0053	0.0051	0.0066	0.0063	0.0008	0	0.0018	0.0023	0.0015	0.0237	0.0034	0.0071	0.0057	0.0052	0.059	0.42199	T	0.0	0.92824	D	0.078	0.38813	B	0.017	0.27432	B	0.545382	0.11492	N	0.774100	1	0.08975	N	1.485	0.37223	L	3.75	0.04353	T	-3.28	0.66780	D	0.099	0.17416	-0.9937	0.31643	T	0.008	0.02720	T	10	0.00414899	0.00082	T	.	.	.	0.058	0.16647	.	.	0.117506650769	0.11410	0.38900047711126	0.38815	.	.	0.300978392363	0.10547	T	0.045488	0.27138	T	-0.568828	0.00225	T	-0.580464	0.14503	T	0.0121725571878287	0.00195	T	0.648035	0.26482	T	0.049583632	0.08826	0.061728124	0.11965	0.049583632	0.08825	0.061728124	0.11964	-3.742	0.22318	T	.	.	0.105	0.27009	B	.;.;.;.;.	.;.;.;.;.	0.347355	0.07205	3.799	0.94016999106735766	0.24121	0.10020	0.15639	N	AEFDBCI	0.111364	0.22051	N	-0.937523859348915	0.09975	0.4745129	-1.0976990800297	0.07745	0.3779705	0.999996643888924	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	1.44	-0.109	0.12922	-0.816000	0.04583	-0.103000	0.11918	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.0:0.4184:0.5815:0.0	4.562	0.11562	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	1	0	0.006559	0.010204	0.001359	0.002924	0.000000	0.000000	0.018405	0.011364	0.07143	1677.63	50	chr16	84179833	.	G	A	1677.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.231;DP=477;ExcessHet=0;FS=2.8;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=18.64;ReadPosRankSum=-1.296;SOR=0.406	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:45,45:90:99:0|1:84179828_A_T:1688,0,1709:84179828	6	0	1	0
chr16	84461804	84461804	C	T	exonic	ATP2C2	.	nonsynonymous SNV	ATP2C2:NM_001291454:exon22:c.C2119T:p.R707C,ATP2C2:NM_014861:exon25:c.C2572T:p.R858C,ATP2C2:NM_001286527:exon26:c.C2659T:p.R887C	.	420	1100	2	0	0	2	0.000908265	.	.	.	2210800	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.963	0.278304235263	7.9e-05	0.000199681	4.14e-05	0.0001	0	0.0002	0	1.499e-05	0	6.057e-05	3.88e-05	6	154602	rs376413422	2.189e-05	2.189e-05	2.451e-05	1.925e-05	0.0002	1.584e-05	1.356e-05	7.713e-05	5.306e-05	0.0002	4.472e-05	0	5.038e-05	0	0.0002	1.619e-05	4.967e-05	0	4.595e-05	4.593e-05	5.139e-05	4.027e-05	0.0002	2.107e-05	1.526e-05	1.972e-05	1.124e-05	4.81e-05	0	0	0	0	0	0	5.88e-05	0	0.0002	0.0	0.91255	D	0.001	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.62929	D	0.000000	1	0.81001	D	4.425	0.98735	H	-4.53	0.97713	D	-7.84	0.96032	D	0.97	0.98065	1.063	0.98420	D	0.976	0.99261	D	10	0.95737	0.95111	D	0.278304	0.90138	D	0.963	0.99463	.	.	0.908858943475	0.90794	0.9665947754402855	0.96647	.	.	0.676555812359	0.63775	T	0.772755	0.93931	D	0.430571	0.91560	D	0.549837	0.95615	D	0.99987804889679	0.99471	D	0.997875	0.99096	D	0.89167476	0.90651	0.56869453	0.75030	0.89167476	0.90652	0.56869453	0.75030	-12.244	0.86019	D	0.7472799746719109	0.82937	0.561	0.72704	A	.;.	.;.	5.843747	0.93791	33	0.99933325873354473	0.99488	0.90640	0.51984	D	AEFDGBCI	0.743084	0.68650	D	0.942762162872389	0.93692	12.21063	0.83134577128364	0.91881	11.11764	0.999996438891751	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.28	5.28	0.74118	4.526000	0.60280	7.473000	0.59173	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.945000	0.48827	0.0:1.0:0.0:0.0	17.889	0.88784	976	0.04745	Cation-transporting P-type ATPase, C-terminal;Cation-transporting P-type ATPase, 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	0.000504	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	2533.44	35	chr16	84461804	.	C	T	2533.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.29;DP=399;ExcessHet=0;FS=2.471;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=-0.059;SOR=0.538	GT:AD:DP:GQ:PL	0/1:97,99:196:99:2544,0,2097	6	0	1	0
chr16	87689925	87689925	G	C	exonic	JPH3	.	nonsynonymous SNV	JPH3:NM_020655:exon4:c.G1565C:p.R522P	Huntington disease-like 2, Autosomal dominant	1	1520	1	0	0	1	0.000328839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.181	0.06228125378	.	.	.	.	.	.	.	.	.	.	.	.	.	rs748590824	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.035	0.52389	D	0.992	0.64738	D	0.549	0.49194	P	0.000000	0.84330	D	0.000000	0.997063	0.43605	D	1.735	0.44892	L	0.72	0.50976	T	-1.02	0.26843	N	0.736	0.73645	-0.8272	0.53480	T	0.166	0.50356	T	10	0.7239886	0.73850	D	0.062281	0.68603	D	0.181	0.45247	0.305	0.27485	0.425592409813	0.42174	0.38871282774339044	0.38786	0.477325536162	0.46845	0.701952219009	0.67426	T	0.378478	0.74144	T	0.10911	0.65260	D	-0.0810471	0.64827	T	0.933340013027191	0.60001	D	0.814918	0.46941	T	0.3732606	0.58825	0.4445019	0.67630	0.3732606	0.58825	0.4445019	0.67630	-3.415	0.15259	T	.	.	0.154	0.34004	B	.	.	3.570497	0.50282	22.9	0.99731395269667111	0.82761	0.91984	0.54689	D	AEFDBCI	0.921197	0.89430	D	0.49258356385305	0.66655	4.978358	0.485375515963343	0.67022	5.028522	0.999999052112738	0.74766	0.646311	0.45356	0	0.514364	0.08380	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	4.41	4.41	0.52588	7.811000	0.84631	9.589000	0.81043	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.846000	0.39970	0.0:0.0:1.0:0.0	16.023	0.80313	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	.	.	.	.	.	.	.	.	0.07143	309.45	33	chr16	87689925	.	G	C	309.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.384;DP=218;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.37;ReadPosRankSum=-1.261;SOR=0.759	GT:AD:DP:GQ:PL	0/1:27,15:42:99:320,0,649	6	0	1	0
chr16	88723301	88723301	C	T	exonic	PIEZO1	.	nonsynonymous SNV	PIEZO1:NM_001142864:exon32:c.G4363A:p.A1455T	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Autosomal dominant;Lymphedema, hereditary, III, Autosomal recessive	382	1133	7	0	0	7	0.00307963	.	.	.	703890	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.066	.	.	0.00119808	0.0024	0	0	0	0.0122	0.0036	0.0062	0.0018	0.0004657	72	154602	rs191656121	0.0015	0.0014	0.0014	0.0016	0.0053	0.0014	0.0014	0.0038	0.0033	0.0001	0.0006	0.0002	0.0006	0.0016	0.0053	0.0016	0.0012	0.0014	0.0016	0.0016	0.0017	0.0015	0.0028	0.0014	0.0014	0.0025	0.0023	0.0001	0	0.0007	0	0.0012	0.0010	0.0068	0.0028	0.0024	0.0025	0.485	0.08115	T	0.038	0.51421	D	0.343	0.33512	B	0.035	0.22741	B	0.000890	0.41231	D	0.200054	0.930638	0.36964	D	1.785	0.46417	L	-0.71	0.72889	T	-1.15	0.29525	N	0.223	0.25006	-0.8457	0.52263	T	0.206	0.56431	T	10	0.004822403	0.00102	T	.	.	.	0.081	0.23632	.	.	0.134007934775	0.12933	0.1714602444143789	0.17066	.	.	0.516444385052	0.41126	T	0.072419	0.34450	T	-0.423406	0.01628	T	-0.383075	0.35361	T	0.0125514325208221	0.00208	T	0.825517	0.48813	T	0.084059775	0.19440	0.09396206	0.22219	0.084059775	0.19439	0.09396206	0.22219	-5.355	0.40484	T	0.10148391091314822	0.07607	0.089	0.12323	B	.	.	3.390508	0.46937	22.4	0.99882234198270403	0.95813	0.76538	0.37545	D	AEFDBCI	0.268612	0.38506	N	0.10048653159397	0.46485	2.88814	0.130408842044348	0.46112	2.862587	0.988704923019811	0.31601	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	5.1	4.09	0.47038	0.636000	0.24333	3.957000	0.40718	0.599000	0.40250	0.138000	0.23473	0.999000	0.35428	0.977000	0.56843	0.0:0.7677:0.1478:0.0845	9.444	0.37852	873	0.30802	Piezo 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	0	0	0.005917	0.000000	0.012195	0.007143	0.000000	0.000000	0.000000	0.011628	0.07143	388.83	34	chr16	88723301	.	C	T	388.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.092;DP=227;ExcessHet=0;FS=1.06;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.7;ReadPosRankSum=0.016;SOR=0.507	GT:AD:DP:GQ:PL	0/1:37,21:58:99:399,0,876	6	0	1	0
chr16	89767168	89767168	G	C	exonic	FANCA	.	nonsynonymous SNV	FANCA:NM_000135:exon27:c.C2574G:p.S858R,FANCA:NM_001286167:exon27:c.C2574G:p.S858R	Fanconi anemia, complementation group A, Autosomal recessive	3	1387	124	8	0	140	0.0480439	.	.	.	137995	not_provided|Fanconi_anemia|Fanconi_anemia_complementation_group_A|not_specified|FANCA-related_disorder	MedGen:C3661900|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650,Orphanet:84|MedGen:CN169374|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.134	.	0.0053	0.00938498	0.0103	0.0013	0.0038	0	0.0100	0.0094	0.0099	0.0296	0.0096118	1486	154602	rs17233141	0.0092	0.0093	0.0085	0.0100	0.0324	0.0091	0.0090	0.0314	0.0310	0.0012	0.0043	0.0111	0	0.0093	0.0250	0.0080	0.0100	0.0324	0.0064	0.0064	0.0063	0.0065	0.0255	0.0061	0.0059	0.0218	0.0204	0.0018	0.0011	0.0067	0.0069	0.0002	0.0081	0.0170	0.0079	0.0090	0.0255	0.063	0.37536	T	0.072	0.45110	T	0.257	0.31412	B	0.143	0.33763	B	0.179044	0.17154	N	0.583605	1	0.08975	N	2.24	0.63355	M	-1.88	0.84557	D	-2.16	0.48850	N	0.338	0.39659	-0.7091	0.59997	T	0.315	0.68486	T	10	0.008692145	0.00197	T	.	.	.	0.134	0.36365	0.249	0.18602	.	.	0.17119845704923142	0.17039	.	.	0.284874647856	0.08182	T	0.224342	0.58875	T	-0.321408	0.06783	T	-0.210772	0.53621	T	0.00823742409031721	0.00099	T	0.563744	0.19863	T	0.068879694	0.15043	0.10313486	0.24736	0.086379096	0.20074	0.08347228	0.19130	-4.486	0.30718	T	0.5329796739477456	0.60360	0.201	0.43380	B	.;.	.;.	0.963643	0.13404	9.909	0.93017545135543789	0.22613	0.09317	0.15097	N	AEFBI	0.154989	0.28011	N	-0.867700815936059	0.11617	0.561594	-0.95107218514313	0.10898	0.5518684	0.720075285439065	0.22921	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.77	1.56	0.22423	1.788000	0.38346	3.011000	0.35961	-0.149000	0.12139	0.026000	0.20160	0.585000	0.25641	0.008000	0.08271	0.1928:0.0:0.634:0.1731	4.561	0.11560	671	0.60868	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.023185	0.010101	0.017663	0.011696	0.000000	0.025862	0.048780	0.019084	0.07143	262.49	20	chr16	89767168	.	G	C	262.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.407;DP=190;ExcessHet=0;FS=4.948;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.25;ReadPosRankSum=-0.299;SOR=1.019	GT:AD:DP:GQ:PL	0/1:29,13:42:99:273,0,733	6	0	1	0
chr16	90009342	90009342	C	A	exonic	DBNDD1	.	nonsynonymous SNV	DBNDD1:NM_001042610:exon2:c.G120T:p.E40D,DBNDD1:NM_024043:exon2:c.G180T:p.E60D,DBNDD1:NM_001288708:exon3:c.G120T:p.E40D	.	.	.	.	.	.	.	.	.	.	.	2265628	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.191	0.0134570678618	0.0002	0.000199681	0.0003	0	0.0002	0	0	0.0004	0	0	0.0002199	34	154602	rs199893398	0.0003	0.0003	0.0003	0.0003	0.0017	0.0003	0.0002	0.0009	0.0007	2.987e-05	8.945e-05	0	0	0	0.0017	0.0003	0.0003	1.159e-05	0.0003	0.0003	0.0004	0.0002	0.0006	0.0002	0.0002	0.0004	0.0004	9.618e-05	0	0.0004	0	0	9.406e-05	0	0.0006	0	0	0.0	0.91255	D	0.0	0.92824	D	0.994	0.67487	D	0.915	0.65091	D	0.000024	0.55875	D	0.066341	0.999309	0.46608	D	2.215	0.62545	M	1.43	0.32958	T	-2.43	0.53258	N	0.319	0.35938	-0.8809	0.49689	T	0.158	0.49111	T	9	0.09516588	0.16977	T	0.013457	0.32880	T	0.191	0.46948	0.62	0.75461	0.0482279557977	0.04254	0.11454073062994523	0.11382	0.302961409508	0.32622	0.447964727879	0.31666	T	0.087225	0.37895	T	-0.345634	0.05007	T	-0.377879	0.35971	T	0.230677232146263	0.21984	T	0.734627	0.35069	T	0.4224207	0.62252	0.3410235	0.59847	0.4224207	0.62253	0.3410235	0.59847	-4.714	0.35214	T	.	.	0.150	0.37350	B	.;.;.;.	.;.;.;.	2.023610	0.25718	16.86	0.99854234948608223	0.93279	0.91139	0.52936	D	AEFDGBI	0.238806	0.36087	N	0.369679514564629	0.59786	4.160996	0.286032770498122	0.54721	3.636471	0.999815433882983	0.43459	0.634777	0.41761	0	0.616935	0.53198	0	0.0	0.00061	3	0.645665	0.59343	0	.	.	4.79	3.82	0.43153	0.547000	0.23007	-0.032000	0.12782	-0.242000	0.07441	0.984000	0.35821	0.073000	0.22253	0.181000	0.21328	0.0:0.8341:0.0:0.1659	9.450	0.37883	745	0.52414	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.07143	1212.46	35	chr16	90009342	.	C	A	1212.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.26;DP=283;ExcessHet=0;FS=2.669;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.37;ReadPosRankSum=-0.914;SOR=1.036	GT:AD:DP:GQ:PL	0/1:47,51:98:99:1223,0,1030	6	0	1	0
chr17	443309	443309	G	T	exonic	RFLNB	.	unknown	UNKNOWN	.	431	1079	11	1	0	13	0.00598802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.367	.	.	0.00159744	0.0009	0	0.0003	0	0	7.535e-05	0	0.0064	0.0008085	125	154602	rs532873330	0.0005	0.0005	0.0003	0.0007	0.0066	0.0004	0.0004	0.0062	0.0060	0	2.236e-05	0	0	0	0.0026	3.598e-05	0.0006	0.0066	0.0002	0.0002	7.708e-05	0.0003	0.0056	0.0001	0.0001	0.0039	0.0034	0	0	6.535e-05	0	0	0	0	4.409e-05	0	0.0056	0.002	0.72154	D	0.004	0.74150	D	.	.	.	.	.	.	0.000000	0.84330	D	0.043646	.	.	.	.	.	.	.	.	.	-4.67	0.79571	D	.	.	0.029	0.82840	D	0.502	0.81183	D	8	0.012968004	0.00277	T	.	.	.	0.367	0.68670	.	.	0.355865052028	0.35192	0.6356221462801696	0.63496	.	.	0.593125343323	0.51935	T	.	.	.	-0.309287	0.07811	T	-0.21318	0.53391	T	0.171437484469659	0.18677	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.704	0.73140	P	.	.	4.682362	0.74951	26.2	0.99444461311126386	0.64921	0.98916	0.88583	D	AEFDBI	0.957891	0.97735	D	0.878780277867829	0.90680	10.51606	0.858570267300887	0.93506	12.08844	0.999999999024484	0.74766	0.706298	0.61202	0	0.659464	0.62310	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.54	5.54	0.82907	7.736000	0.83883	11.773000	0.95911	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.854	0.92213	747	0.52260	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.000000	0.000000	0.000000	0.008621	0.009146	0.003788	0.07143	959.45	38	chr17	443309	.	G	T	959.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.761;DP=273;ExcessHet=0;FS=1.713;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.78;ReadPosRankSum=-1.013;SOR=0.517	GT:AD:DP:GQ:PL	0/1:48,41:89:99:970,0,1137	6	0	1	0
chr17	2057111	2057113	GGC	-	exonic	HIC1	.	nonframeshift deletion	HIC1:NM_001098202:exon2:c.478_480del:p.G167del,HIC1:NM_006497:exon2:c.421_423del:p.G148del	.	0	205	21	0	0	21	0.0487239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1289	.	0.0021	0	0	0	0	0.0026	0.05	0.0011	0.0002305	6	26028	rs769002012	0.0008	0.0062	0.0006	0.0010	0.0042	0.0008	0.0008	0.0037	0.0035	0.0005	0.0017	0.0013	0.0005	0.0020	0.0008	0.0006	0.0010	0.0042	0.0003	0.0003	0.0003	0.0002	0.0005	0.0002	0.0002	0.0004	0.0003	2.412e-05	0	0.0003	0	0.0002	9.612e-05	0	0.0005	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103576	0.115385	0.120370	0.074468	0.100000	0.097561	0.084615	0.137168	0.08333	59.26	22	chr17	2057110	.	GGGC	G	59.26	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.31;DP=161;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=2.69;ReadPosRankSum=0.768;SOR=0.446	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:19,3:22:69:0|1:2057110_GGGC_G:69,0,786:2057110	5	0	1	1
chr17	3816149	3816149	G	A	exonic	NCBP3	.	nonsynonymous SNV	NCBP3:NM_001114118:exon11:c.C1432T:p.R478C	.	422	1098	2	0	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.00226722738932	0.0002	0.000399361	0.0001	9.634e-05	0.0002	0.0001	0	0.0002	0	0	0.0001229	19	154602	rs147018687	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	9.634e-05	0.0001	0.0001	0	8.946e-05	0	0	0	0.0002	0.0001	0.0001	0	0.0002	0.0002	0.0001	0.0002	0.0003	0.0001	0.0001	0.0002	0.0002	4.81e-05	0	6.538e-05	0	0	0	0	0.0003	0	0.0002	0.111	0.29029	T	0.059	0.45961	T	0.0	0.02946	B	0.0	0.01387	B	0.004927	0.33255	N	0.345403	0.999983	0.19238	N	.	.	.	.	.	.	-1.69	0.40274	N	0.155	0.16028	-1.0645	0.10666	T	0.041	0.17700	T	9	0.024825543	0.00697	T	0.002267	0.04342	T	0.064	0.18567	.	.	0.043077524339	0.03247	0.05865203385922802	0.05806	1.12857777397	0.78526	.	.	.	0.006166	0.05608	T	-0.438452	0.01321	T	-0.612537	0.11779	T	0.0440942956575936	0.04437	T	0.844715	0.52235	T	0.074147575	0.16620	0.04339685	0.05390	0.074147575	0.16620	0.04339685	0.05390	-7.305	0.56231	T	.	.	0.069	0.03060	B	.	.	3.109064	0.41930	21.4	0.99390382201330185	0.62292	0.43923	0.27205	N	AEFDBHCI	0.144320	0.26726	N	-0.561601504178301	0.20122	1.058409	-0.444222391245045	0.23712	1.29463	0.715910605135619	0.22874	0.722319	0.85440	0	0.698795	0.70079	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.46	1.92	0.24912	1.036000	0.29837	2.233000	0.31547	0.676000	0.76740	0.037000	0.20830	0.920000	0.28304	0.985000	0.61073	0.0997:0.3086:0.4468:0.1449	3.272	0.06479	799	0.44747	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	631.53	33	chr17	3816149	.	G	A	631.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.48;DP=236;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.72;ReadPosRankSum=0.306;SOR=0.608	GT:AD:DP:GQ:PL	0/1:38,27:65:99:642,0,846	6	0	1	0
chr17	4242318	4242318	G	T	exonic	ANKFY1	.	nonsynonymous SNV	ANKFY1:NM_001257999:exon2:c.C267A:p.S89R,ANKFY1:NM_001330063:exon2:c.C141A:p.S47R,ANKFY1:NM_016376:exon2:c.C141A:p.S47R	.	.	.	.	.	.	.	.	.	.	.	3287844	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.031	0.0182216991452	.	.	.	.	.	.	.	.	.	.	.	.	.	rs768380060	6.928e-07	6.84e-07	0	1.393e-06	9.046e-07	0	0	.	.	0	0	0	0	0	0	9.046e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.384	0.11050	T	0.504	0.11691	T	0.065	0.32608	B	0.017	0.26930	B	0.100599	0.19879	N	0.576656	1	0.08975	N	1.7	0.43825	L	0.95	0.44065	T	-0.94	0.25118	N	0.301	0.38950	-1.0057	0.28247	T	0.062	0.25708	T	10	0.060667843	0.07487	T	0.018222	0.40210	T	0.033	0.08068	0.354	0.35408	0.404519682234	0.40067	0.2512724917830303	0.25041	0.619236631855	0.56283	0.314351260662	0.12565	T	0.029856	0.21296	T	-0.231948	0.16392	T	-0.570953	0.15361	T	0.0831593870255282	0.10386	T	0.738626	0.35686	T	0.034274433	0.03816	0.057847515	0.10586	0.034274433	0.03816	0.057847515	0.10586	-4.983	0.36655	T	.	.	0.181	0.39511	B	.;.;.	.;.;.	-1.352144	0.00396	0.008	0.91128223404334086	0.20381	0.10090	0.15691	N	AEFBI	0.118474	0.23165	N	-1.47599289962114	0.02020	0.08878323	-1.54019583588535	0.02044	0.09344202	0.0183849653893507	0.13053	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.44	-4.66	0.03090	-0.619000	0.05668	-4.047000	0.02373	-1.534000	0.00989	0.000000	0.06391	0.000000	0.08366	0.825000	0.38878	0.3815:0.0:0.5239:0.0947	10.485	0.43900	371	0.84287	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	667.53	33	chr17	4242318	.	G	T	667.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.017;DP=217;ExcessHet=0;FS=2.555;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.91;ReadPosRankSum=1.57;SOR=0.358	GT:AD:DP:GQ:PL	0/1:19,29:48:99:678,0,459	6	0	1	0
chr17	4933907	4933923	ACCACCCCAGAGCCCAC	0	exonic	GP1BA	.	.	.	Bernard-Soulier syndrome, type A1 (recessive), Autosomal recessive;Bernard-Soulier syndrome, type A2 (dominant), Autosomal dominant;von Willebrand disease, platelet-type, Autosomal dominant	625	661	31	11	194	247	0.0385455	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	7280.03	66	chr17	4933907	.	ACCACCCCAGAGCCCAC	*	7280.03	.	AC=7;AF=0.5;AN=14;DP=857;ExcessHet=0.3476;FS=12.078;MLEAC=7;MLEAF=0.5;MQ=59.78;MQRankSum=0;QD=12.34;SOR=0.502	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:23,29:52:99:.:.:910,0,548:.	1	1	5	0
chr17	5139468	5139468	G	A	exonic	USP6	.	nonsynonymous SNV	USP6:NM_004505:exon14:c.G1292A:p.G431D,USP6:NM_001304284:exon22:c.G1292A:p.G431D	.	413	1103	6	0	0	6	0.00271248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.00199850957167	0.0004	0.000399361	0.0005	0	0.0003	0	0	0.0006	0.0022	0.0007	0.000414	64	154602	rs142493590	0.0005	0.0005	0.0005	0.0005	0.0066	0.0005	0.0004	0.0049	0.0043	0.0001	0.0010	0	0	5.632e-05	0.0066	0.0005	0.0008	0.0008	0.0005	0.0005	0.0004	0.0005	0.0010	0.0004	0.0003	0.0005	0.0004	4.81e-05	0	0.0005	0	0	9.416e-05	0.0238	0.0006	0.0028	0.0010	0.054	0.38633	T	0.064	0.44905	T	0.994	0.66517	D	0.931	0.66596	D	0.000017	0.62929	D	0.181254	1	0.08975	N	0.805	0.20218	L	2.63	0.12884	T	-2.23	0.50012	N	0.147	0.14905	-1.0673	0.10017	T	0.080	0.31675	T	9	0.044258833	0.03363	T	0.001999	0.03615	T	0.055	0.15663	.	.	0.457922657367	0.45416	0.26197083663964393	0.26111	0.936994113655	0.72065	0.52796536684	0.42747	T	0.004477	0.03887	T	-0.547367	0.00303	T	-0.609472	0.12027	T	0.0896623581647873	0.11178	T	0.568143	0.20156	T	0.18641172	0.40049	0.2798918	0.53961	0.18641172	0.40048	0.2798918	0.53960	-4.728	0.33742	T	.	.	0.119	0.33913	B	.;.	.;.	1.907786	0.24231	16.32	0.99097164780422231	0.52371	0.07904	0.13893	N	AEFDBCI	0.060375	0.11468	N	-0.428865830010873	0.24461	1.320999	-0.667665512770636	0.17771	0.9464399	1.16954571823002E-5	0.02871	0.516011	0.20929	0	0.573888	0.26702	0	0.578056	0.29568	0	0.586402	0.36253	0	.	.	0.046	0.046	0.13572	1.040000	0.29888	-4.230000	0.02268	0.249000	0.18320	0.866000	0.30720	0.000000	0.08366	0.079000	0.17189	.	.	.	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	0	0	0	1	0	0	0	0.006042	0.000000	0.006793	0.017544	0.000000	0.017241	0.000000	0.003788	0.07143	1353.45	53	chr17	5139468	.	G	A	1353.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.16;DP=443;ExcessHet=0;FS=1.423;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.83;ReadPosRankSum=0.997;SOR=0.628	GT:AD:DP:GQ:PL	0/1:70,55:125:99:1364,0,1697	6	0	1	0
chr17	7284493	7284493	C	T	exonic	SLC2A4	.	nonsynonymous SNV	SLC2A4:NM_001042:exon7:c.C736T:p.R246C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.609	0.111775962656	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1176244789	6.156e-06	6.156e-06	2.722e-06	9.625e-06	2.519e-05	2.9e-06	2.1e-06	2.62e-06	1.68e-06	0	0	0	2.519e-05	0	0	6.295e-06	0	1.159e-05	1.314e-05	1.313e-05	2.569e-05	0	4.824e-05	2.18e-06	8.2e-07	7.99e-06	2.99e-06	4.824e-05	0	0	0	0	0	0	0	0	0	0.002	0.72154	D	0.003	0.79402	D	0.994	0.77913	D	0.846	0.60472	P	0.000087	0.51296	N	0.124816	1	0.81001	D	.	.	.	-1.04	0.76561	T	-6.27	0.90648	D	0.376	0.42834	0.145	0.84964	D	0.578	0.84791	D	10	0.526695	0.62950	D	0.111776	0.78968	D	0.609	0.84666	0.639	0.77579	0.902297762227	0.90132	0.47478749434733464	0.47397	0.356810192889	0.37416	0.627588152885	0.56804	T	0.78703	0.94430	D	-0.0358129	0.46570	T	-0.120091	0.61796	T	0.908517325109732	0.56312	D	0.958704	0.84427	D	0.7400597	0.80296	0.6466986	0.79341	0.7400597	0.80297	0.6466986	0.79342	-9.126	0.68504	D	.	.	0.193	0.45335	B	.;.;.	.;.;.	4.931553	0.81311	27.5	0.99909847588044132	0.97949	0.92203	0.55175	D	AEFBI	0.586586	0.58457	D	0.581750839538055	0.72037	5.742974	0.493743807712304	0.67573	5.10235	0.00543885121387558	0.10937	0.775728	0.99543	0	0.59043	0.45803	0	0.663124	0.60104	0	0.542086	0.14980	0	.	.	4.88	3.92	0.44525	1.602000	0.36393	4.052000	0.41516	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.1863:0.7185:0.0:0.0952	6.041	0.18958	542	0.72843	Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	659.49	36	chr17	7284493	.	C	T	659.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.687;DP=261;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.18;ReadPosRankSum=-0.107;SOR=0.811	GT:AD:DP:GQ:PL	0/1:32,27:59:99:670,0,847	6	0	1	0
chr17	7776078	7776078	C	T	exonic	DNAH2	.	nonsynonymous SNV	DNAH2:NM_020877:exon31:c.C4876T:p.R1626W	.	411	1107	4	0	0	4	0.00180343	.	.	.	2379892	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.449	0.0238498904732	0.0002	0.000199681	0.0003	9.638e-05	8.642e-05	0	0	0.0003	0.0011	0.0007	0.0002329	36	154602	rs145092294	0.0002	0.0002	0.0001	0.0002	0.0023	0.0001	0.0001	0.0013	0.0011	2.987e-05	0.0002	0	0	0	0.0023	0.0001	0.0003	0.0004	0.0001	0.0001	0.0001	0.0001	0.0004	7.086e-05	5.744e-05	9.048e-05	7.012e-05	4.813e-05	0	0.0001	0	0	0	0	0.0002	0	0.0004	0.097	0.30943	T	.	.	.	0.98	0.59353	D	0.773	0.56974	P	0.061914	0.22136	N	0.411457	0.996465	0.43220	D	2.535	0.73915	M	0.05	0.61923	T	-4.26	0.76174	D	0.588	0.60918	-0.4512	0.70361	T	0.320	0.68917	T	10	0.41980678	0.56787	T	0.02385	0.46827	T	0.449	0.75004	.	.	0.499727662827	0.49609	0.5693257010220835	0.56860	0.841354233732	0.68090	0.527382612228	0.42666	T	0.554737	0.84987	D	-0.247028	0.14466	T	-0.256356	0.49187	T	0.651634871959686	0.38532	D	0.919108	0.70849	D	0.36775565	0.58419	0.39914995	0.64485	0.36775565	0.58419	0.39914995	0.64485	-9.034	0.67916	D	.	.	0.164	0.36134	B	.;.	.;.	4.852729	0.79340	27.1	0.99912511006192728	0.98167	0.60472	0.31205	D	AEFDGBI	0.244578	0.36566	N	0.457751587473074	0.64645	4.723698	0.406902351678207	0.61993	4.407709	1.10703097845535E-4	0.05123	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.76	2.44	0.28875	0.946000	0.28667	2.674000	0.33968	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.4456:0.4758:0.0:0.0786	7.620	0.27349	242	0.90534	Dynein heavy chain, domain-2;Dynein heavy chain, domain-2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	961.49	33	chr17	7776078	.	C	T	961.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.009;DP=236;ExcessHet=0;FS=2.3;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.3;ReadPosRankSum=0.111;SOR=0.595	GT:AD:DP:GQ:PL	0/1:21,38:59:99:972,0,455	6	0	1	0
chr17	7846949	7846949	T	C	exonic	KDM6B	.	nonsynonymous SNV	KDM6B:NM_001080424:exon9:c.T842C:p.L281P,KDM6B:NM_001348716:exon9:c.T842C:p.L281P	.	4	1516	2	0	0	2	0.000659196	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	0.0287010041823	.	.	.	.	.	.	.	.	.	.	.	.	.	rs982502887	4.042e-06	3.42e-06	6.413e-06	1.63e-06	3.554e-05	1.18e-06	8.6e-07	9.44e-06	4.62e-06	0	0	0	0	0	0	2.071e-06	0	3.554e-05	7.693e-06	7.486e-06	0	1.622e-05	1.576e-05	0	0	.	.	0	0	0	0	0	0	0	1.576e-05	0	0	0.0	0.91255	D	0.012	0.63918	D	0.997	0.70673	D	0.944	0.68059	D	0.003009	0.35573	N	0.000000	0.999978	0.53665	D	0.805	0.20218	L	0.8	0.48769	T	-1.24	0.31375	N	0.43	0.46928	-0.9589	0.39386	T	0.129	0.43787	T	10	0.23647988	0.40730	T	0.028701	0.51333	D	0.129	0.35316	0.233	0.16155	0.221890330934	0.21812	0.564036136516451	0.56330	0.189776172185	0.21301	0.876983880997	0.93551	D	0.054344	0.29698	T	0.0329222	0.56111	T	-0.190486	0.55545	T	0.6842522400591	0.39982	D	0.674733	0.28305	T	0.4925784	0.66656	0.50103366	0.71154	0.4925784	0.66657	0.50103366	0.71154	-2.234	0.04209	T	.	.	0.345	0.56278	A	.;.	.;.	4.288071	0.65375	24.8	0.99489405150688626	0.67347	0.66832	0.33216	D	AEFBI	0.415993	0.48463	N	0.276168115699764	0.54942	3.658887	0.349497857405828	0.58477	4.018408	0.999872106798944	0.44625	0.67177	0.52595	0	0.702456	0.74545	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	5.36	5.36	0.76624	2.767000	0.47321	7.647000	0.63496	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	13.613	0.61558	298	0.88068	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1711.53	62	chr17	7846949	.	T	C	1711.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.404;DP=601;ExcessHet=0;FS=2.162;MLEAC=1;MLEAF=0.071;MQ=59.78;MQRankSum=1.59;QD=10.9;ReadPosRankSum=-1.36;SOR=0.495	GT:AD:DP:GQ:PL	0/1:86,71:157:99:1722,0,2418	6	0	1	0
chr17	7848541	7848552	CACCACCACCAC	-	exonic	KDM6B	.	nonframeshift deletion	KDM6B:NM_001080424:exon11:c.2253_2264del:p.T759_T762del,KDM6B:NM_001348716:exon11:c.2253_2264del:p.T759_T762del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0001	0.0001	0.0001	0.0004	0.0002	0	0.0007	0.000207	32	154602	rs767120689	0.0002	0.0002	0.0002	0.0002	0.0006	0.0002	0.0002	0.0005	0.0005	6.076e-05	0.0001	0	0.0001	0.0008	0.0002	0.0001	0.0001	0.0006	0.0002	0.0002	0.0002	0.0002	0.0009	0.0001	0.0001	0.0003	0.0002	5.733e-05	0	7.332e-05	0.0003	0.0009	0.0004	0	0.0002	0	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1878.39	39	chr17	7848540	.	TCACCACCACCAC	T	1878.39	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.11;DP=343;ExcessHet=0.3476;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=19.36;ReadPosRankSum=-0.029;SOR=0.721	GT:AD:DP:GQ:PL	0/1:32,26:58:99:980,0,1258	6	0	1	0
chr17	8096649	8096649	A	G	exonic	ALOXE3	.	nonsynonymous SNV	ALOXE3:NM_001369446:exon15:c.T2111C:p.I704T,ALOXE3:NM_001165960:exon16:c.T2510C:p.I837T,ALOXE3:NM_021628:exon16:c.T2114C:p.I705T	Ichthyosis, congenital, autosomal recessive 3, Autosomal recessive	0	1497	24	1	0	26	0.00860927	.	.	.	704452	ALOXE3-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.797	0.380157397993	0.0010	0.000599042	0.0012	0.0005	0.0033	0	0	0.0014	0.0066	0.0004	0.0011513	178	154602	rs138511327	0.0010	0.0010	0.0010	0.0010	0.0141	0.0009	0.0009	0.0116	0.0106	0.0002	0.0031	7.913e-05	0	0.0001	0.0141	0.0009	0.0017	0.0006	0.0014	0.0014	0.0013	0.0015	0.0050	0.0012	0.0012	0.0041	0.0038	0.0002	0.0241	0.0050	0.0003	0	0	0.0103	0.0013	0.0052	0.0002	0.0	0.91255	D	0.013	0.63109	D	0.97	0.56973	D	0.688	0.53700	P	0.000048	0.53742	D	0.148999	0.999984	0.58761	D	3.305	0.90531	M	-2.96	0.91956	D	-4.43	0.77717	D	0.467	0.51583	0.957	0.96503	D	0.873	0.95786	D	10	0.014063895	0.00297	T	0.380157	0.92952	D	0.797	0.93346	.	.	0.986267851924	0.98611	0.7874829586891275	0.78700	0.21833863742	0.24371	0.590389490128	0.51549	T	0.487448	0.81351	T	0.113713	0.65735	D	0.386887	0.91672	D	0.0825676291888366	0.10313	T	0.931907	0.74605	D	0.5924791	0.72285	0.7284111	0.83954	0.5978087	0.72575	0.6132911	0.77498	-6.966	0.55882	T	0.27312420416183625	0.36710	0.245	0.57750	B	.;.;.	.;.;.	4.354379	0.66909	25.0	0.99825452954047911	0.90764	0.93254	0.57728	D	AEFDBI	0.379348	0.46240	N	0.680505980597383	0.78354	6.854891	0.623421948247664	0.76644	6.529241	0.999506687356173	0.40062	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.13	5.13	0.69729	5.281000	0.65416	11.188000	0.88560	0.743000	0.86499	0.992000	0.37556	1.000000	0.68203	0.972000	0.54974	1.0:0.0:0.0:0.0	14.342	0.66196	355	0.85216	Lipoxygenase, C-terminal;Lipoxygenase, 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	0	0	0	0	0	1	0	0.006546	0.000000	0.006793	0.005848	0.100000	0.025862	0.009146	0.003788	0.07143	1205.44	36	chr17	8096649	.	A	G	1205.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.627;DP=300;ExcessHet=0;FS=1.62;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.48;ReadPosRankSum=-0.632;SOR=0.879	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,50:105:99:1|0:8096639_G_A:1216,0,2079:8096639	6	0	1	0
chr17	8256909	8256909	G	A	exonic	PFAS	.	nonsynonymous SNV	PFAS:NM_012393:exon9:c.G1021A:p.A341T	.	415	1106	1	0	0	1	0.000451875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.446	0.036088685616	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1365486830	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.009	0.66756	D	0.996	0.68779	D	0.926	0.66095	D	0.000021	0.55875	D	0.115586	0.999999	0.81001	D	3.31	0.90591	M	0.51	0.55439	T	-2.2	0.49519	N	0.634	0.64733	-0.0810	0.80531	T	0.408	0.75720	T	10	0.9295864	0.92300	D	0.036089	0.56766	D	0.446	0.74797	0.843	0.94784	0.853942674937	0.85253	0.8216244516064228	0.82119	0.766464379829	0.64535	0.561025619507	0.47412	T	0.450761	0.79175	T	0.03877	0.56884	T	-0.0852319	0.64518	T	0.876257934965105	0.52613	D	0.999637	0.99861	D	0.16382924	0.36551	0.21656017	0.46288	0.16382924	0.36551	0.21656017	0.46287	-11.797	0.83848	D	.	.	0.497	0.64449	A	.	.	5.095850	0.85121	28.5	0.99941416406109485	0.99797	0.98576	0.84281	D	AEFDBI	0.857341	0.77469	D	0.948937985293399	0.93941	12.38708	0.907006547142515	0.95872	14.055	0.999999731712782	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.75	5.75	0.90390	8.778000	0.91427	11.849000	0.98023	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.879000	0.42020	0.0:0.0:1.0:0.0	17.432	0.87434	484	0.77165	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	867.44	36	chr17	8256909	.	G	A	867.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.47;DP=255;ExcessHet=0;FS=0.891;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.05;ReadPosRankSum=-1.153;SOR=0.844	GT:AD:DP:GQ:PL	0/1:39,33:72:99:878,0,891	6	0	1	0
chr17	8758366	8758366	G	A	exonic	SPDYE4	.	nonsynonymous SNV	SPDYE4:NM_001128076:exon1:c.C17T:p.A6V	.	425	1080	16	1	0	18	0.00826446	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	.	0.0070	0.00319489	0.0052	0.0070	0.0101	0	0.0055	0.0070	0	0.0032	0.0020634	319	154602	rs34694079	0.0081	0.0078	0.0082	0.0080	0.0097	0.0080	0.0080	0.0092	0.0092	0.0035	0.0029	0.0027	5.598e-05	0.0057	0.0097	0.0094	0.0075	0.0027	0.0062	0.0062	0.0064	0.0059	0.0094	0.0058	0.0057	0.0088	0.0086	0.0040	0.0110	0.0031	0.0026	0	0.0039	0.0102	0.0094	0.0071	0.0010	0.172	0.22660	T	0.694	0.05844	T	0.0	0.02946	B	0.0	0.01387	B	0.018084	0.01480	N	3.257980	1	0.08975	N	0	0.06538	N	.	.	.	-0.54	0.16598	N	0.075	0.04913	-1.0613	0.11434	T	0.033	0.14117	T	9	0.0039616227	0.00076	T	.	.	.	0.014	0.01968	.	.	0.0297737177859	0.01360	0.06361789642876589	0.06300	0.200286886509	0.22433	0.387546867132	0.23323	T	0.001776	0.01195	T	-0.697053	0.00038	T	-0.763657	0.02983	T	0.000697649832233645	0.00006	T	0.458554	0.13215	T	0.02554231	0.01503	0.04355462	0.05446	0.02554231	0.01503	0.04355462	0.05445	-4.193	0.26650	T	.	.	0.084	0.09772	B	.	.	-0.119769	0.03524	0.670	0.67067587201391132	0.08244	0.00538	0.02482	N	AEFDBI	0.028939	0.02640	N	-1.39315711839182	0.02701	0.1196695	-1.42553532080348	0.02999	0.1390573	8.21368020201314E-5	0.04703	0.549168	0.22868	0	0.627178	0.54094	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	2.38	0.228	0.14635	0.331000	0.19477	-2.552000	0.03617	-0.202000	0.08738	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.3527:0.0:0.6473:0.0	4.59	0.11696	840	0.37365	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008914	0.015306	0.008824	0.010563	0.000000	0.000000	0.014019	0.000000	0.07143	636.49	37	chr17	8758366	.	G	A	636.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.474;DP=249;ExcessHet=0;FS=0.99;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.79;ReadPosRankSum=-0.22;SOR=0.524	GT:AD:DP:GQ:PL	0/1:30,29:59:99:647,0,743	6	0	1	0
chr17	17215284	17215284	C	T	exonic	FLCN	.	nonsynonymous SNV	FLCN:NM_144997:exon12:c.G1333A:p.A445T,FLCN:NM_001353230:exon13:c.G1333A:p.A445T,FLCN:NM_001353231:exon13:c.G1333A:p.A445T,FLCN:NM_001353229:exon14:c.G1387A:p.A463T	Birt-Hogg-Dube syndrome, Autosomal dominant;Colorectal cancer, somatic;Pneumothorax, primary spontaneous, Autosomal dominant;Renal carcinoma, chromophobe, somatic	0	1493	28	1	0	30	0.00994695	.	.	YES	18409	Hereditary_cancer-predisposing_syndrome|not_specified|Birt-Hogg-Dube_syndrome|not_provided|Birt-Hogg-Dube_syndrome_1|Familial_spontaneous_pneumothorax|Colorectal_cancer|Nonpapillary_renal_cell_carcinoma|17p11.2_microduplication_syndrome|Carcinoma_of_colon	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0800444,MedGen:C0346010,OMIM:PS135150,Orphanet:122|MedGen:C3661900|MONDO:MONDO:0800445,MedGen:CN375946,OMIM:135150,Orphanet:122|MONDO:MONDO:0008259,MedGen:C1868193,OMIM:173600,Orphanet:2903|MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500|MONDO:MONDO:0007763,MedGen:CN074294,OMIM:144700,Orphanet:422526|Gene:100038247,MONDO:MONDO:0012574,MedGen:C2931246,OMIM:610883,Orphanet:1713|MONDO:MONDO:0002032,MedGen:C0699790	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.203	0.0604308747319	0.0019	0.000798722	0.0027	0.0005	0.0013	0	0.0008	0.0037	0.0022	0.0033	0.0026132	404	154602	rs41419545	0.0030	0.0030	0.0029	0.0031	0.0132	0.0029	0.0029	0.0108	0.0099	0.0005	0.0021	0.0024	0	0.0007	0.0132	0.0032	0.0032	0.0040	0.0024	0.0024	0.0025	0.0023	0.0059	0.0022	0.0022	0.0049	0.0045	0.0003	0	0.0059	0.0035	0.0002	0.0005	0.0204	0.0033	0.0043	0.0023	0.87	0.02606	T	0.553	0.09329	T	0.0	0.02946	B	0.0	0.01387	B	0.257102	0.15389	N	0.695908	1	0.08975	N	-1.04	0.01097	N	-2.99	0.92108	D	0.19	0.04947	N	0.205	0.22742	-0.5684	0.66079	T	0.295	0.66640	T	10	0.004835129	0.00103	T	0.060431	0.67999	D	0.203	0.48915	.	.	0.187035705434	0.18338	0.2022582816453621	0.20142	0.356774467599	0.37413	0.292996585369	0.09360	T	0.30576	0.67800	T	-0.477074	0.00770	T	-0.459533	0.26650	T	0.00136713459327549	0.00014	T	0.59684	0.22194	T	0.023952244	0.01180	0.045600146	0.06172	0.03681238	0.04600	0.042168256	0.04959	-3.216	0.12677	T	0.08208204089075731	0.04303	0.064	0.01762	B	.	.	-0.579733	0.01628	0.113	0.74823135621684544	0.10840	0.01028	0.03857	N	AEFDGBI	0.025846	0.01838	N	-1.83791171747947	0.00459	0.01974575	-1.83918489512921	0.00641	0.02852158	0.980657301027315	0.30161	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.66	-7.45	0.01229	-0.032000	0.12217	-3.274000	0.02915	-0.773000	0.03420	0.049000	0.21372	0.000000	0.08366	0.000000	0.00833	0.0:0.2869:0.3329:0.3802	7.727	0.27930	759	0.50631	Folliculin, C-terminal|Folliculin/SMCR8, tripartite DENN 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	0.011581	0.005051	0.017663	0.020468	0.000000	0.008621	0.000000	0.007576	0.07143	1202.44	34	chr17	17215284	.	C	T	1202.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.375;DP=287;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.27;ReadPosRankSum=-0.275;SOR=0.751	GT:AD:DP:GQ:PL	0/1:44,54:98:99:1213,0,978	6	0	1	0
chr17	17793784	17793786	AGC	0	exonic	RAI1	.	.	.	Smith-Magenis syndrome, Autosomal dominant, Isolated cases	32	478	558	335	119	1347	0.562271	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	20643.3	114	chr17	17793784	.	AGC	*	20643.3	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.113;DP=1086;ExcessHet=1.4958;FS=0.622;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=25.14;ReadPosRankSum=0.099;SOR=0.669	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:63,85:152:99:0|1:17793781_AG_*:3394,0,2366:17793781	6	0	1	0
chr17	17793787	17793788	AG	0	exonic	RAI1	.	.	.	Smith-Magenis syndrome, Autosomal dominant, Isolated cases	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	19632.9	116	chr17	17793787	.	AG	*	19632.9	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.026;DP=1094;ExcessHet=1.4958;FS=0.596;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=25.83;ReadPosRankSum=0.441;SOR=0.701	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:63,85:152:99:0|1:17793781_AG_*:3394,0,2366:17793781	6	0	1	0
chr17	19656369	19656369	C	T	exonic	ALDH3A2	.	nonsynonymous SNV	ALDH3A2:NM_000382:exon4:c.C475T:p.L159F,ALDH3A2:NM_001031806:exon4:c.C475T:p.L159F,ALDH3A2:NM_001369136:exon5:c.C475T:p.L159F,ALDH3A2:NM_001369137:exon5:c.C475T:p.L159F,ALDH3A2:NM_001369138:exon5:c.C475T:p.L159F,ALDH3A2:NM_001369139:exon5:c.C475T:p.L159F,ALDH3A2:NM_001369146:exon5:c.C475T:p.L159F	Sjogren-Larsson syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.612	0.108149247733	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.846e-07	6.841e-07	0	1.376e-06	9e-07	0	0	.	.	0	0	0	0	0	0	9e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.59928	D	0.137	0.33894	T	0.999	0.90584	D	0.988	0.80445	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.38	0.34346	L	-1.13	0.77719	T	-2.6	0.61722	D	0.569	0.67822	-0.2896	0.75276	T	0.465	0.79301	T	10	0.6122588	0.67509	D	0.108149	0.78454	D	0.612	0.84826	0.555	0.67271	0.871998136743	0.87075	0.6741759750367501	0.67355	0.882093243654	0.69809	0.48786854744	0.37144	T	0.654317	0.89548	D	0.181093	0.72142	D	0.0223517	0.71782	D	0.972841382026672	0.69858	D	0.927507	0.73308	D	0.8255387	0.85595	0.6425163	0.79109	0.8255387	0.85597	0.6425163	0.79110	-4.833	0.35622	T	0.3194412099042188	0.41755	0.293	0.52459	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.572320	0.50323	22.9	0.99873465643319759	0.95076	0.96312	0.68525	D	AEFDBI	0.553788	0.56490	D	0.31923462903431	0.57137	3.879924	0.3029993551499	0.55714	3.734408	0.999982803515169	0.51787	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.71	3.73	0.41982	2.842000	0.47931	1.383000	0.26051	0.529000	0.24592	0.990000	0.36992	0.825000	0.27162	0.218000	0.22407	0.0:0.8515:0.0:0.1485	11.152	0.47692	740	0.53092	Aldehyde dehydrogenase domain;Aldehyde dehydrogenase domain;Aldehyde dehydrogenase domain;.;Aldehyde dehydrogenase domain;.;Aldehyde dehydrogenase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	98.63	31	chr17	19656369	.	C	T	98.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.937;DP=244;ExcessHet=0;FS=20.262;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=2.01;ReadPosRankSum=0.695;SOR=4.319	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,10:49:99:0|1:19656367_A_G:109,0,874:19656367	6	0	1	0
chr17	29121859	29121859	C	T	exonic	MYO18A	.	nonsynonymous SNV	MYO18A:NM_001346767:exon4:c.G1186A:p.V396I,MYO18A:NM_078471:exon4:c.G1186A:p.V396I,MYO18A:NM_203318:exon4:c.G1186A:p.V396I,MYO18A:NM_001346765:exon5:c.G1222A:p.V408I,MYO18A:NM_001346766:exon5:c.G1222A:p.V408I	.	413	1101	6	2	0	10	0.0045208	.	.	.	2733138	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.011	0.00893352995347	8e-05	.	6.63e-05	0.0001	0.0002	0	0	5.999e-05	0	6.058e-05	7.12e-05	11	154602	rs373443144	9.237e-05	9.303e-05	8.033e-05	0.0001	0.0009	7.96e-05	7.433e-05	0.0003	0.0002	0	8.945e-05	0.0002	0	0	0.0009	9.805e-05	6.626e-05	8.115e-05	6.571e-05	6.567e-05	3.854e-05	9.417e-05	0.0001	3.517e-05	2.616e-05	6.805e-05	5.088e-05	0	0	0	0.0003	0	0	0	0.0001	0	0	0.253	0.16958	T	0.061	0.45530	T	0.014	0.34192	B	0.007	0.23831	B	0.000086	0.51296	N	0.169097	0.727406	0.29863	N	1.71	0.44315	L	-0.63	0.72011	T	-0.6	0.17834	N	0.339	0.38027	-0.8782	0.49903	T	0.182	0.52965	T	10	0.050896704	0.04889	T	0.008934	0.23535	T	0.045	0.12272	.	.	0.482446708537	0.47876	0.21674331670352392	0.21590	0.213380235429	0.23852	0.386709004641	0.23204	T	0.050127	0.28506	T	-0.262651	0.12591	T	-0.417413	0.31373	T	0.027837885543704	0.01665	T	0.873313	0.58144	D	0.026514845	0.01718	0.047677338	0.06919	0.026514845	0.01718	0.047677338	0.06919	-5.724	0.43906	T	.	.	0.082	0.08657	B	.;.;.;.;.	.;.;.;.;.	1.152944	0.15411	11.83	0.98536952524005095	0.42670	0.81950	0.41256	D	AEFBI	0.117584	0.23028	N	-0.436322499875816	0.24206	1.305403	-0.357820534880194	0.26268	1.449808	0.466664202508121	0.20671	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.64	2.52	0.29514	1.199000	0.31842	-0.575000	0.08406	0.599000	0.40250	0.521000	0.27119	0.000000	0.08366	0.522000	0.29520	0.1221:0.6887:0.0:0.1893	7.283	0.25496	242	0.90534	Myosin, N-terminal, SH3-like;.;.;Myosin, N-terminal, SH3-like;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	1495.63	35	chr17	29121859	.	C	T	1495.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.22;DP=305;ExcessHet=0;FS=2.302;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.16;ReadPosRankSum=-0.218;SOR=0.95	GT:AD:DP:GQ:PL	0/1:64,59:123:99:1506,0,1451	6	0	1	0
chr17	32653853	32653853	T	A	exonic	MYO1D	.	nonsynonymous SNV	MYO1D:NM_001303279:exon19:c.A2585T:p.H862L,MYO1D:NM_015194:exon19:c.A2585T:p.H862L	.	432	1071	17	2	0	21	0.00970874	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.242	0.0175565516486	0.0023	0.000998403	0.0025	0.0003	0.0011	0	0.0002	0.0026	0.0044	0.0071	0.0023997	371	154602	rs138039699	0.0028	0.0028	0.0027	0.0030	0.0068	0.0028	0.0027	0.0061	0.0059	0.0004	0.0009	0.0068	2.521e-05	0.0001	0.0068	0.0028	0.0039	0.0065	0.0017	0.0017	0.0020	0.0015	0.0054	0.0016	0.0015	0.0038	0.0032	0.0004	0	0.0006	0.0072	0	0	0.0034	0.0027	0.0028	0.0054	0.383	0.11085	T	0.611	0.07972	T	0.292	0.32352	B	0.186	0.36104	B	0.001063	0.40389	U	0.000000	0.999986	0.54805	D	1.545	0.39105	L	1.31	0.35405	T	-3.66	0.70067	D	0.692	0.71676	-1.0246	0.22214	T	0.114	0.40605	T	10	0.011826187	0.00257	T	0.017557	0.39307	T	0.242	0.54781	.	.	0.724517356449	0.72207	0.5444599775592731	0.54371	0.340908758652	0.36029	0.68586397171	0.65111	T	0.209828	0.57015	T	-0.327915	0.06271	T	-0.240078	0.50792	T	0.032886410562262	0.02452	T	0.849315	0.61165	T	0.15112223	0.34370	0.1641063	0.38033	0.15112223	0.34370	0.1641063	0.38032	-7.366	0.56664	T	.	.	0.159	0.38062	B	.;.;.	.;.;.	3.260569	0.44588	22.0	0.97275753710753421	0.33158	0.98503	0.83469	D	AEFBI	0.927141	0.90933	D	0.24052626963992	0.53173	3.487336	0.372102693800617	0.59848	4.166513	0.999657636595545	0.41424	0.706548	0.73137	0	0.653731	0.59785	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	5.89	5.89	0.94758	5.634000	0.67507	6.118000	0.53749	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.947000	0.49155	0.0:0.0:0.0:1.0	14.243	0.65518	904	0.23766	Class I myosin tail homology domain|Class I myosin tail homology domain;Class I myosin tail homology domain|Class I myosin tail homology domain;Class I myosin tail homology domain|Class I myosin tail 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	0.004028	0.000000	0.004076	0.002924	0.000000	0.000000	0.009146	0.011364	0.07143	1030.44	38	chr17	32653853	.	T	A	1030.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.34;DP=313;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.72;ReadPosRankSum=-0.763;SOR=0.646	GT:AD:DP:GQ:PL	0/1:63,43:106:99:1041,0,1493	6	0	1	0
chr17	37257713	37257713	C	T	exonic	ACACA	.	nonsynonymous SNV	ACACA:NM_198837:exon12:c.G1531A:p.E511K,ACACA:NM_198838:exon13:c.G1471A:p.E491K,ACACA:NM_198834:exon14:c.G1816A:p.E606K,ACACA:NM_198836:exon14:c.G1705A:p.E569K,ACACA:NM_198839:exon18:c.G1705A:p.E569K	Acetyl-CoA carboxylase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.692	0.0171503242482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.439	0.17696	T	0.746	0.44790	P	0.557	0.55725	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.885	0.50048	L	.	.	.	.	.	.	0.862	0.85872	0.107	0.84300	D	0.637	0.87289	D	10	0.7375028	0.74723	D	0.01715	0.38730	T	.	.	0.467	0.53891	0.877869702975	0.87668	0.9836152231955558	0.98353	.	.	0.872255206108	0.92889	D	0.780159	0.94189	D	0.432308	0.91648	D	0.383204	0.91545	D	0.977236747741699	0.71748	D	.	.	.	0.81459284	0.84857	0.6431959	0.79147	0.81459284	0.84859	0.6431959	0.79148	-9.549	0.74745	D	.	.	0.857	0.80134	P	.;.;.;.	.;.;.;.	5.294357	0.88888	29.8	0.9986442591158583	0.94276	0.98597	0.84519	D	AEFBI	0.820385	0.74119	D	0.627107990343815	0.74894	6.211086	0.69699622420893	0.82148	7.696462	0.999999997971713	0.74766	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.733575	0.97253	0	.	.	5.93	5.93	0.95888	7.905000	0.86479	7.642000	0.63248	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	19.342	0.94335	689	0.59000	.;.;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4286	2132.02	55	chr17	37257713	.	C	T	2132.02	.	AC=6;AF=0.429;AN=14;BaseQRankSum=0.609;DP=417;ExcessHet=8.2628;FS=426.457;MLEAC=6;MLEAF=0.429;MQ=60;MQRankSum=0;QD=5.32;ReadPosRankSum=0.389;SOR=10.646	GT:AD:DP:GQ:PL	0/1:33,33:66:99:344,0,402	1	0	6	0
chr17	38477643	38477643	C	G	exonic	ARHGAP23	.	nonsynonymous SNV	ARHGAP23:NM_001199417:exon12:c.C2183G:p.S728W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.337	0.905007503137	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1220306737	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.635e-06	6.568e-06	1.297e-05	0	.	0	0	.	.	0	0	0	0.0003	0	0	0	0	0	0	.	.	.	0.165	0.32355	T	0.989	0.62824	D	0.915	0.65091	D	0.050278	0.23087	N	0.397446	0.990994	0.41283	D	1.04	0.26193	L	.	.	.	.	.	.	0.529	0.59478	-0.3622	0.73198	T	0.451	0.78515	T	10	0.63322717	0.68636	D	0.905008	0.99288	D	.	.	0.462	0.53079	0.391313282164	0.38746	0.5458804597641633	0.54514	.	.	0.930630743504	0.99023	D	0.008699	0.07968	T	-0.0469327	0.44911	T	-0.305192	0.44173	T	0.644633591175079	0.38233	D	.	.	.	0.15751185	0.35487	0.117307626	0.28318	0.15751185	0.35487	0.117307626	0.28317	-6.523	0.51061	T	.	.	0.183	0.39630	B	.;.	.;.	3.340312	0.46023	22.2	0.85829670751380738	0.16139	0.69501	0.34213	D	AEFBI	0.314061	0.41903	N	-0.29503248932701	0.29339	1.62615	-0.419387043098007	0.24428	1.337626	0.00437759819359528	0.10521	0.634777	0.41761	0	0.588066	0.40923	0	0.643519	0.47002	0	0.636168	0.56350	0	.	.	3.4	-0.012	0.13314	0.763000	0.26183	0.706000	0.20886	0.495000	0.22486	0.997000	0.40164	0.999000	0.35428	0.823000	0.38780	0.3344:0.2948:0.1639:0.2069	0.508	0.00551	125	0.94984	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	.	.	.	.	.	.	.	.	0.08333	346.28	9	chr17	38477643	.	C	G	346.28	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.085;DP=156;ExcessHet=0;FS=6.68;MLEAC=1;MLEAF=0.083;MQ=59.28;MQRankSum=1.1;QD=11.94;ReadPosRankSum=0.721;SOR=0.103	GT:AD:DP:GQ:PL	0/1:14,15:29:99:356,0,348	5	0	1	1
chr17	41226817	41226817	A	G	exonic	KRTAP9-2	.	nonsynonymous SNV	KRTAP9-2:NM_031961:exon1:c.A163G:p.T55A	.	425	1074	23	0	0	23	0.0105942	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00107116852984	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs71371480	4.462e-06	6.164e-05	2.949e-06	6.002e-06	5.634e-05	1.61e-06	1.05e-06	9.33e-06	3.49e-06	0	0	0	5.634e-05	0	0	3.848e-06	0	0	8.37e-05	0.0040	8.167e-05	8.583e-05	0.0001	4.754e-05	3.715e-05	4.988e-05	3.582e-05	0.0001	0	6.923e-05	0	0	0	0	0.0001	0	0	0.239	0.17761	T	0.194	0.28120	T	0.057	0.22878	B	0.014	0.16862	B	.	.	.	.	1	0.08975	N	1.615	0.41426	L	4.93	0.01395	T	-2.18	0.49187	N	0.052	0.02366	-0.9083	0.47061	T	0.003	0.00800	T	9	0.069259465	0.09913	T	0.001071	0.01239	T	0.019	0.03383	0.272	0.22210	0.0806252709748	0.07271	0.06562531389351679	0.06501	1.12458278325	0.78412	0.193279489875	0.00288	T	0.016892	0.13877	T	-0.329445	0.06154	T	-0.711002	0.05244	T	0.0578466179088175	0.06824	T	0.00989901	0.00051	T	0.030785557	0.02802	0.043039963	0.05265	0.030785557	0.02801	0.043039963	0.05265	-2.973	0.09893	T	.	.	0.075	0.05491	B	.	.	-0.162279	0.03290	0.566	0.19617231370711175	0.00670	0.02148	0.06321	N	AEFBI	0.028638	0.02560	N	-1.71002807248366	0.00807	0.03487423	-1.80660392748605	0.00738	0.03290239	1.56655996843476E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.18	-4.25	0.03508	-0.848000	0.04435	-20.000000	0.00162	-0.756000	0.03544	0.000000	0.06391	0.000000	0.08366	0.172000	0.21044	0.272:0.1967:0.143:0.3883	0.293	0.00242	115	0.95340	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	191.23	226	chr17	41226817	.	A	G	191.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.92;DP=1813;ExcessHet=0;FS=41.771;MLEAC=1;MLEAF=0.083;MQ=56.39;MQRankSum=-10.04;QD=0.65;ReadPosRankSum=-5.759;SOR=3.404	GT:AD:DP:GQ:PL	0/1:264,30:294:99:201,0,10903	5	0	1	1
chr17	41502730	41502730	G	A	exonic	KRT13	.	nonsynonymous SNV	KRT13:NM_002274:exon5:c.C980T:p.T327M,KRT13:NM_153490:exon5:c.C980T:p.T327M	White sponge nevus 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2266840	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.430	0.0680573606146	.	.	1.648e-05	0	0	0	0	1.499e-05	0	6.056e-05	1.29e-05	2	154602	rs775287167	2.257e-05	2.257e-05	2.178e-05	2.338e-05	0.0001	1.61e-05	1.416e-05	5.395e-05	4.042e-05	0	2.236e-05	0	5.038e-05	0	0	1.888e-05	0	0.0001	1.971e-05	1.97e-05	0	4.033e-05	0.0002	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0.0002	0.015	0.57480	D	0.015	0.63918	D	1.0	0.90584	D	0.992	0.80445	D	0.000250	0.46924	D	0.000000	1	0.08975	N	2.48	0.72069	M	-2.5	0.89219	D	-3.95	0.73477	D	0.485	0.51940	0.138	0.84841	D	0.769	0.92157	D	10	0.46490496	0.59510	T	0.068057	0.70342	D	0.430	0.73662	0.462	0.53079	0.948419999819	0.94787	0.05196331848108905	0.05138	0.497249836479	0.48222	0.544361650944	0.45062	T	0.498118	0.87910	T	-0.0288206	0.47588	T	-0.0765213	0.65158	T	0.909795463085175	0.56481	D	0.737926	0.36463	T	0.29824334	0.52747	0.46321526	0.68838	0.29824334	0.52747	0.46321526	0.68838	-8.214	0.62519	D	.	.	0.162	0.35726	B	.;.;.	.;.;.	4.662897	0.74439	26.2	0.99881797594869448	0.95813	0.25628	0.22755	N	AEFBI	0.336785	0.43479	N	0.257014292105208	0.53987	3.565484	0.124754016093537	0.45819	2.838324	0.0338096547470042	0.14123	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.45	4.45	0.53365	0.820000	0.26979	6.652000	0.56219	0.606000	0.46413	0.000000	0.06391	1.000000	0.68203	0.988000	0.63387	0.0:0.0:0.8149:0.185	11.976	0.52379	440	0.80101	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;.;Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	2341.44	34	chr17	41502730	.	G	A	2341.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.35;DP=413;ExcessHet=0;FS=0.501;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=1.09;SOR=0.68	GT:AD:DP:GQ:PL	0/1:114,99:213:99:2352,0,2598	6	0	1	0
chr17	43092943	43092943	A	T	exonic	BRCA1	.	nonsynonymous SNV	BRCA1:NM_007297:exon9:c.T2447A:p.V816D,BRCA1:NM_007294:exon10:c.T2588A:p.V863D,BRCA1:NM_007300:exon10:c.T2588A:p.V863D	.	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.542	0.147648784414	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.47320	D	0.245	0.30926	T	0.767	0.43786	P	0.562	0.49608	P	0.311143	0.04016	N	1.504310	0.996802	0.22896	N	2.685	0.78553	M	-1.47	0.81067	T	-5.07	0.83357	D	0.646	0.72477	-0.3993	0.72049	T	0.448	0.78360	T	10	0.41843113	0.56699	T	0.147649	0.82965	D	0.542	0.80901	0.462	0.53079	0.356897458496	0.35304	0.2077251069066062	0.20688	0.218442541837	0.24383	0.34365054965	0.16983	T	0.533375	0.83892	D	0.142934	0.68604	D	-0.0324611	0.68205	D	0.597780466079712	0.36312	D	0.845215	0.52386	T	0.38907328	0.59966	0.47057799	0.69300	0.38907328	0.59966	0.47057799	0.69301	-5.107	0.39655	T	0.2680299478088023	0.36101	0.107	0.34492	B	.;.;.;.	.;.;.;.	1.527818	0.19609	14.35	0.95962720700753978	0.28306	0.02030	0.06086	N	AEFDGBIJ	0.089275	0.18095	N	-0.748549425144952	0.14672	0.7328956	-0.907139559089903	0.11925	0.6105117	0.999999999478064	0.74766	0.744818	0.98587	0	0.724815	0.89359	0	0.724815	0.87919	0	0.76194	0.99817	0	.	.	5.15	-7.25	0.01321	-0.465000	0.06757	-0.100000	0.11953	0.691000	0.84096	0.000000	0.06391	0.000000	0.08366	0.997000	0.79791	0.1479:0.3903:0.2864:0.1753	2.816	0.05121	511	0.75131	.;.;.;.	.	.	.	.	.	Likely benign	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	.	.	.	.	.	.	.	.	0.07143	2234.45	92	chr17	43092943	.	A	T	2234.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.649;DP=740;ExcessHet=0;FS=5.525;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.99;ReadPosRankSum=1.98;SOR=0.393	GT:AD:DP:GQ:PL	0/1:87,85:172:99:2245,0,2317	6	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	.	.	.	.	.	.	.	.	0.1667	601.77	31	chr17	43209576	.	C	T	601.77	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.417;DP=218;ExcessHet=0.4139;FS=125.839;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=7.72;ReadPosRankSum=0.358;SOR=6.868	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:31,16:47:99:0|1:43209576_C_T:265,0,874:43209576	4	0	2	1
chr17	44805364	44805364	T	C	exonic	GJC1	.	nonsynonymous SNV	GJC1:NM_001080383:exon3:c.A454G:p.N152D,GJC1:NM_005497:exon3:c.A454G:p.N152D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.277	0.0376121825589	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.599	0.05652	T	0.619	0.07468	T	0.001	0.07471	B	0.002	0.06944	B	0.052246	0.22910	N	0.426271	0.998919	0.21801	N	0.695	0.17993	N	-3.9	0.97792	D	-0.06	0.07882	N	0.248	0.28028	-0.0795	0.80565	T	0.741	0.91152	D	10	0.10014668	0.18219	T	0.037612	0.57726	D	0.277	0.59375	0.266	0.21261	0.258436476835	0.25460	0.16119429626887868	0.16040	0.690142144812	0.60519	0.54501336813	0.45153	T	0.420695	0.77232	T	0.000404794	0.51711	T	-0.237195	0.51072	T	0.0741175189614296	0.09218	T	0.612939	0.24490	T	0.04325941	0.06709	0.047443777	0.06833	0.04325941	0.06708	0.047443777	0.06833	-2.644	0.06845	T	.	.	0.089	0.18539	B	.;.;.;.;.	.;.;.;.;.	1.995939	0.25356	16.73	0.85437644524108769	0.15892	0.63393	0.32076	D	AEFBI	0.169042	0.29585	N	-0.447040931874275	0.23840	1.283126	-0.267430920732368	0.29178	1.63267	0.945408454844075	0.27659	0.719381	0.83141	0	0.633656	0.55848	0	0.702456	0.68683	0	0.733575	0.97253	0	.	.	5.11	2.91	0.32903	4.073000	0.57290	2.909000	0.35496	-0.807000	0.03101	1.000000	0.71638	1.000000	0.68203	0.593000	0.31214	0.0:0.1642:0.0:0.8358	8.171	0.30418	407	0.82314	Connexin, N-terminal;Connexin, N-terminal;Connexin, N-terminal;Connexin, N-terminal;Connexin, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1874.44	34	chr17	44805364	.	T	C	1874.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.508;DP=316;ExcessHet=0;FS=3.198;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.53;ReadPosRankSum=-0.078;SOR=0.439	GT:AD:DP:GQ:PL	0/1:59,70:129:99:1885,0,1552	6	0	1	0
chr17	61962768	61962768	C	T	exonic	MED13	.	nonsynonymous SNV	MED13:NM_005121:exon21:c.G5048A:p.S1683N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.244	0.00977400978344	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	6.572e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.943	0.02181	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.000000	0.84330	N	0.085533	0.993765	0.42045	D	-0.64	0.02118	N	-1.7	0.83072	D	0.19	0.04947	N	0.119	0.10911	-0.8889	0.49029	T	0.217	0.57980	T	10	0.07827833	0.12457	T	0.009774	0.25495	T	0.244	0.55061	0.635	0.77142	0.110392049598	0.10638	0.28433293095288703	0.28346	0.169140404151	0.19067	0.540932655334	0.44577	T	0.226177	0.59113	T	-0.160397	0.26698	T	-0.468175	0.25713	T	0.530364453792572	0.33748	D	0.827917	0.49191	T	0.08063311	0.18487	0.09775632	0.23281	0.08063311	0.18486	0.09775632	0.23280	-1.745	0.02350	T	.	.	0.06	0.00934	B	.	.	1.877178	0.23844	16.17	0.88050630185092005	0.17679	0.71236	0.34927	D	AEFBI	0.103837	0.20792	N	-0.440799554701509	0.24052	1.296068	-0.211467040581427	0.31123	1.758447	0.0503766086448082	0.14837	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.05	4.08	0.46880	3.083000	0.49833	1.811000	0.28962	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.6739:0.0:0.3261	6.301	0.20319	84	0.96491	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	879.83	39	chr17	61962768	.	C	T	879.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.483;DP=250;ExcessHet=0;FS=0.926;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=0.157;SOR=0.941	GT:AD:DP:GQ:PL	0/1:37,37:74:99:890,0,883	6	0	1	0
chr17	63481680	63481680	G	A	exonic	ACE	.	nonsynonymous SNV	ACE:NM_001382701:exon5:c.G208A:p.G70R,ACE:NM_000789:exon7:c.G1060A:p.G354R	Renal tubular dysgenesis, Autosomal recessive	0	1512	10	0	0	10	0.00329598	.	.	.	345306	Microvascular_complications_of_diabetes,_susceptibility_to,_3|Renal_tubular_dysgenesis_of_genetic_origin|Hemorrhage,_intracerebral,_susceptibility_to|Renal_tubular_dysgenesis|not_provided	MONDO:MONDO:0012963,MedGen:C2675470,OMIM:612624|MONDO:MONDO:0009970,MedGen:C5681536,OMIM:267430,Orphanet:97369|MONDO:MONDO:0100533,MedGen:C3281105,OMIM:614519|Human_Phenotype_Ontology:HP:0008660,MONDO:MONDO:0017609,MedGen:C0266313,Orphanet:3033|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.318	.	0.0065	0.00379393	0.0078	0.0011	0.0033	0	0.0262	0.0105	0.0077	0.0015	0.0075355	1165	154602	rs56394458	0.0087	0.0087	0.0087	0.0086	0.0095	0.0085	0.0085	0.0093	0.0093	0.0015	0.0044	0.0008	2.519e-05	0.0235	0.0066	0.0095	0.0066	0.0019	0.0071	0.0071	0.0064	0.0078	0.0091	0.0068	0.0066	0.0085	0.0083	0.0018	0	0.0046	0.0012	0	0.0279	0.0034	0.0091	0.0057	0.0014	0.012	0.55530	D	0.004	0.76473	D	1.0	0.90584	D	0.998	0.88582	D	0.000002	0.62929	D	0.000000	1	0.81001	D	3.545	0.93219	H	0.55	0.54728	T	-3.27	0.65512	D	0.819	0.81459	-0.2070	0.77491	T	0.279	0.65119	T	10	0.016649961	0.00352	T	.	.	.	0.318	0.64008	0.394	0.41935	0.848307341727	0.84685	0.3805313184583944	0.37968	0.22178067715	0.24716	0.630038380623	0.57151	T	0.031829	0.43276	T	-0.216507	0.18473	T	-0.0701487	0.65616	T	0.0555810719895859	0.06454	T	0.927707	0.75038	D	0.43089223	0.62810	0.4152924	0.65647	0.49997067	0.67094	0.43169975	0.66779	-11.149	0.80469	D	0.6279207330342891	0.69699	0.194	0.43421	B	.;.	.;.	5.222411	0.87654	29.3	0.99832042966239665	0.91370	0.98718	0.85968	D	AEFDBI	0.892225	0.82895	D	0.54342816753885	0.69681	5.391903	0.517359654235633	0.69156	5.320651	0.999999951504153	0.74766	0.460665	0.09802	0	0.547309	0.14657	0	0.603688	0.36954	0	0.636168	0.56350	0	.	.	4.33	4.33	0.51083	6.578000	0.73920	8.592000	0.77691	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.931000	0.46843	0.0:0.0:1.0:0.0	17.028	0.86326	940	0.13648	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.07143	698.63	34	chr17	63481680	.	G	A	698.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.836;DP=232;ExcessHet=0;FS=1.96;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.7;ReadPosRankSum=-0.017;SOR=0.976	GT:AD:DP:GQ:PL	0/1:42,30:72:99:709,0,1039	6	0	1	0
chr17	68368609	68368609	G	A	exonic	ARSG	.	nonsynonymous SNV	ARSG:NM_001352909:exon6:c.G718A:p.V240M,ARSG:NM_001267727:exon7:c.G766A:p.V256M,ARSG:NM_001352899:exon7:c.G766A:p.V256M,ARSG:NM_001352900:exon7:c.G766A:p.V256M,ARSG:NM_001352901:exon7:c.G766A:p.V256M,ARSG:NM_001352902:exon7:c.G766A:p.V256M,ARSG:NM_001352903:exon7:c.G763A:p.V255M,ARSG:NM_001352904:exon7:c.G763A:p.V255M,ARSG:NM_001352905:exon7:c.G763A:p.V255M,ARSG:NM_001352906:exon7:c.G763A:p.V255M,ARSG:NM_001352907:exon7:c.G763A:p.V255M,ARSG:NM_001352910:exon7:c.G766A:p.V256M,ARSG:NM_014960:exon7:c.G766A:p.V256M	.	423	1095	4	0	0	4	0.00182315	.	.	.	1594013	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.070	0.0321560427342	0.0003	0.000199681	0.0003	0	0.0002	0	0	0.0005	0.0022	0	0.0002781	43	154602	rs144631983	0.0003	0.0003	0.0002	0.0003	0.0099	0.0002	0.0002	0.0078	0.0071	8.961e-05	0.0005	0.0021	0	0	0.0099	0.0002	0.0006	0.0002	0.0002	0.0002	0.0002	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	2.405e-05	0	0.0001	0.0017	0	0	0.0034	0.0002	0	0.0002	0.05	0.39575	D	0.222	0.25748	T	0.398	0.34801	B	0.233	0.38358	B	0.584189	0.11114	N	0.829482	1	0.08975	N	1.855	0.49169	L	-5.14	0.98763	D	-0.53	0.16393	N	0.115	0.11912	-0.9070	0.47215	T	0.161	0.49548	T	9	0.016359001	0.00345	T	0.032156	0.54058	D	0.070	0.20419	.	.	0.492200611407	0.48855	0.5848721385615048	0.58417	0.355312255275	0.37297	0.429345279932	0.29119	T	0.446194	0.86545	T	-0.265476	0.12266	T	-0.302959	0.44413	T	0.0156232531215351	0.00358	T	0.527047	0.17380	T	0.061069414	0.12605	0.0455482	0.06155	0.061069414	0.12605	0.0455482	0.06154	-6.921	0.53455	T	0.4966304388728896	0.57256	0.111	0.25331	B	.;.;.	.;.;.	0.177834	0.05660	2.108	0.96808685996809563	0.31180	0.06337	0.12335	N	AEFDGBHCI	0.042350	0.06559	N	-0.778819585313376	0.13863	0.6860853	-0.928474386106551	0.11423	0.5818885	0.999999592653824	0.74766	0.615465	0.37627	0	0.667123	0.63270	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.26	-0.582	0.11122	-0.276000	0.08546	-0.314000	0.10017	-0.113000	0.14837	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.1754:0.0:0.7104:0.1143	10.443	0.43663	905	0.23532	Sulfatase, N-terminal;Sulfatase, N-terminal;Sulfatase, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.006552	0.005051	0.009511	0.017647	0.000000	0.000000	0.003049	0.000000	0.07143	964.83	30	chr17	68368609	.	G	A	964.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.09;DP=223;ExcessHet=0;FS=8.31;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=20.53;ReadPosRankSum=-1.717;SOR=1.551	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:22,25:47:99:0|1:68368608_T_C:975,0,830:68368608	6	0	1	0
chr17	73232240	73232240	G	C	exonic	FAM104A	.	nonsynonymous SNV	FAM104A:NM_001098832:exon1:c.C67G:p.P23A,FAM104A:NM_001289410:exon1:c.C67G:p.P23A,FAM104A:NM_001289411:exon1:c.C67G:p.P23A,FAM104A:NM_032837:exon1:c.C67G:p.P23A	.	434	1068	20	0	0	20	0.00927644	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.0417095240966	0.0044	0.00239617	0.0039	0.0018	0.0019	0	0.0003	0.0062	0.0062	0.0013	0.0038098	589	154602	rs180917408	0.0058	0.0058	0.0059	0.0058	0.0141	0.0057	0.0057	0.0116	0.0107	0.0010	0.0024	0.0025	2.523e-05	0.0005	0.0141	0.0070	0.0048	0.0016	0.0039	0.0040	0.0043	0.0036	0.0065	0.0037	0.0036	0.0060	0.0058	0.0015	0	0.0045	0.0020	0	0.0003	0.0136	0.0065	0.0043	0.0004	0.108	0.29420	T	0.091	0.49942	T	0.705	0.41986	P	0.359	0.43123	B	.	.	.	.	0.842808	0.28607	N	0.805	0.20218	L	0.55	0.58176	T	-0.7	0.21644	N	0.412	0.48504	-1.0613	0.11434	T	0.062	0.25672	T	9	0.007984251	0.00181	T	0.04171	0.60073	D	0.156	0.40720	.	.	0.46763814438	0.46390	0.166938773126972	0.16613	0.370701444111	0.38581	0.722039461136	0.70343	T	0.027087	0.40233	T	-0.356881	0.04309	T	-0.282522	0.46546	T	0.066659530329254	0.08175	T	0.662834	0.41282	T	0.0840635	0.19440	0.12637298	0.30437	0.0840635	0.19439	0.12637298	0.30436	-2.866	0.08828	T	.	.	0.064	0.11845	B	.;.;.;.	.;.;.;.	4.039256	0.59786	24.1	0.98713176618007037	0.45083	0.66195	0.32994	D	AEFGBHCIJ	0.134599	0.25467	N	-0.387578163074751	0.25910	1.410121	-0.368279065433257	0.25948	1.43021	0.999999999999999	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.519653	0.09787	0	0.372554	0.06265	0	.	.	5.0	3.01	0.33872	4.367000	0.59270	6.267000	0.55357	0.651000	0.53179	0.985000	0.35982	1.000000	0.68203	0.965000	0.52897	0.094:0.0:0.7203:0.1857	6.088	0.19200	416	0.81733	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	648.63	33	chr17	73232240	.	G	C	648.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.42;DP=220;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=0.597;SOR=0.739	GT:AD:DP:GQ:PL	0/1:25,28:53:99:659,0,553	6	0	1	0
chr17	74588549	74588549	A	G	exonic	CD300LD	.	nonsynonymous SNV	CD300LD:NM_001115152:exon2:c.T341C:p.I114T	.	429	1069	23	1	0	25	0.011558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	.	9.7e-05	0.00299521	0.0028	0.0004	0.0003	0	0	0.0004	0.0022	0.0197	0.0023221	359	154602	rs373622492	0.0012	0.0012	0.0007	0.0017	0.0158	0.0011	0.0011	0.0151	0.0148	2.989e-05	0.0001	3.831e-05	2.52e-05	0.0001	0.0078	0.0002	0.0013	0.0158	0.0007	0.0007	0.0003	0.0011	0.0153	0.0006	0.0005	0.0125	0.0115	0.0002	0	0.0001	0	0	0	0	0.0002	0.0024	0.0153	1.0	0.00964	T	0.511	0.10785	T	0.001	0.07471	B	0.001	0.04355	B	0.576823	0.05512	N	1.319570	1	0.08975	N	-1.36	0.00644	N	3.67	0.04188	T	2.05	0.00383	N	0.02	0.00308	-0.8770	0.49997	T	0.003	0.01092	T	10	0.0029604733	0.00048	T	.	.	.	0.011	0.01250	.	.	0.0716867268079	0.06686	0.40127413191323485	0.40042	0.0287764771953	0.02960	0.299900650978	0.10386	T	0.002577	0.01964	T	-0.813431	0.00006	T	-0.92824	0.00339	T	0.0143576098293748	0.00287	T	0.0323468	0.00208	T	0.028293667	0.02144	0.0371623	0.03312	0.028293667	0.02144	0.0371623	0.03312	-2.345	0.04807	T	.	.	0.072	0.04396	B	.	.	-2.012146	0.00098	0.002	0.4171693841533809	0.03028	0.00162	0.00966	N	AEFDGBI	0.023171	0.01255	N	-2.05473229198525	0.00161	0.006888032	-2.05754448689937	0.00230	0.01015613	0.952734288663424	0.28032	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.67	-8.6	0.00773	-4.939000	0.00196	-20.000000	0.00162	-1.331000	0.01216	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3773:0.3251:0.2976:0.0	6.319	0.20415	861	0.33516	Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005035	0.000000	0.001359	0.002924	0.000000	0.000000	0.003049	0.015152	0.07143	2454.44	34	chr17	74588549	.	A	G	2454.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.899;DP=367;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.92;ReadPosRankSum=-0.876;SOR=0.723	GT:AD:DP:GQ:PL	0/1:91,99:190:99:2465,0,2292	6	0	1	0
chr17	75265797	75265797	G	C	exonic	MRPS7	.	nonsynonymous SNV	MRPS7:NM_015971:exon5:c.G603C:p.M201I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.428	0.0289919388967	.	.	3.305e-05	0	0	0	0	6.014e-05	0	0	3.23e-05	5	154602	rs541221529	6.157e-06	6.156e-06	4.084e-06	8.251e-06	0.0002	2.9e-06	2.1e-06	3.85e-06	1.44e-06	0	2.236e-05	0	0	0	0.0002	3.597e-06	1.656e-05	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.43393	D	0.018	0.59732	D	0.871	0.47859	P	0.622	0.51475	P	0.000000	0.84330	D	0.074685	1	0.81001	D	2.575	0.75298	M	0.7	0.51474	T	-2.08	0.47514	N	0.542	0.60495	-0.4966	0.68772	T	0.282	0.65419	T	10	0.8889209	0.88229	D	0.028992	0.51576	D	0.428	0.73517	0.834	0.94231	0.820746442501	0.81905	0.8056795354137712	0.80522	0.167327546539	0.18878	0.515054225922	0.40931	T	0.15538	0.49709	T	0.0252622	0.55088	T	-0.071038	0.65552	T	0.527216255664825	0.33631	D	0.842916	0.51943	T	0.57948357	0.71580	0.34238797	0.59966	0.57948357	0.71581	0.34238797	0.59965	-6.477	0.50109	T	0.3762959700951639	0.47124	0.536	0.69251	A	.;.	.;.	4.092015	0.60950	24.3	0.98572580826677092	0.43128	0.97423	0.74656	D	ALL	0.957049	0.97598	D	0.80517730767526	0.86431	8.882677	0.820252477823533	0.91164	10.75037	1.0	0.98316	0.730579	0.87903	0	0.697927	0.68747	0	0.702456	0.68683	0	0.648885	0.59868	0	.	.	6.07	6.07	0.98675	8.039000	0.89191	11.766000	0.95743	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.295000	0.24381	0.0:0.0:1.0:0.0	20.659	0.99629	964	0.07719	Ribosomal protein S7 domain;Ribosomal protein S7 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1580.83	37	chr17	75265797	.	G	C	1580.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.512;DP=261;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.76;ReadPosRankSum=1.28;SOR=0.765	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:47,42:89:99:0|1:75265797_G_C:1591,0,1847:75265797	6	0	1	0
chr17	75265798	75265798	C	A	exonic	MRPS7	.	nonsynonymous SNV	MRPS7:NM_015971:exon5:c.C604A:p.P202T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.219	0.0116173789326	.	.	3.305e-05	0	0	0	0	6.014e-05	0	0	3.23e-05	5	154602	rs780133586	6.157e-06	6.156e-06	4.084e-06	8.251e-06	0.0002	2.9e-06	2.1e-06	3.85e-06	1.44e-06	0	2.236e-05	0	0	0	0.0002	3.597e-06	1.656e-05	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	0.42199	D	0.166	0.36630	T	0.998	0.73220	D	0.971	0.72444	D	0.000079	0.52346	D	0.174447	0.999826	0.49512	D	1.36	0.34107	L	0.91	0.44856	T	-5.21	0.83763	D	0.33	0.48042	-0.9376	0.42994	T	0.197	0.55144	T	10	0.3838734	0.54395	T	0.011617	0.29427	T	0.219	0.51417	0.345	0.33950	0.810416777937	0.80863	0.575735718204754	0.57502	0.482861853438	0.47245	0.52475631237	0.42296	T	0.338228	0.70751	T	-0.142756	0.29453	T	-0.312385	0.43402	T	0.573661100480921	0.35375	D	0.931507	0.74506	D	0.4021512	0.60881	0.414239	0.65573	0.4021512	0.60882	0.414239	0.65574	-5.755	0.44180	T	0.2881718317311908	0.38441	0.148	0.36355	B	.;.	.;.	3.330303	0.45847	22.2	0.96837410235301591	0.31289	0.93424	0.58180	D	ALL	0.789210	0.71847	D	0.646882426951217	0.76166	6.436735	0.67579094474032	0.80546	7.322606	0.999999993710409	0.74766	0.730579	0.87903	0	0.697927	0.68747	0	0.702456	0.68683	0	0.648885	0.59868	0	.	.	6.17	6.17	0.99707	3.934000	0.56265	5.935000	0.51384	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.307000	0.24666	0.0:0.9315:0.0:0.0685	13.996	0.63912	964	0.07719	Ribosomal protein S7 domain;Ribosomal protein S7 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1580.83	37	chr17	75265798	.	C	A	1580.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.835;DP=263;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.76;ReadPosRankSum=1.02;SOR=0.765	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:47,42:89:99:0|1:75265797_G_C:1591,0,1847:75265797	6	0	1	0
chr17	75631193	75631193	C	T	exonic	RECQL5	.	nonsynonymous SNV	RECQL5:NM_004259:exon10:c.G1505A:p.R502Q	.	396	1124	2	0	0	2	0.000888889	.	.	.	3510261	RECQL5-related_disorder	.	no_assertion_criteria_provided	Uncertain_significance	.	.	.	.	.	.	.	.	0.120	0.0146429376337	7.7e-05	.	4.147e-05	0	0	0	0	7.512e-05	0	0	3.23e-05	5	154602	rs200732170	5.542e-05	5.541e-05	6.127e-05	4.951e-05	0.0010	4.544e-05	4.156e-05	0.0005	0.0003	8.961e-05	0	0	0	0	0.0010	5.126e-05	0.0001	8.116e-05	3.941e-05	3.94e-05	3.853e-05	4.034e-05	8.82e-05	1.715e-05	1.129e-05	3.762e-05	2.575e-05	0	0	0	0	0	0	0	8.82e-05	0	0	0.029	0.45756	D	0.074	0.42976	T	0.915	0.50599	P	0.372	0.43610	B	0.003290	0.35154	N	0.242951	0.999105	0.46078	D	1.7	0.43825	L	0.16	0.60610	T	-2.83	0.59710	D	0.46	0.50418	-0.8814	0.49650	T	0.161	0.49631	T	10	0.36676294	0.53163	T	0.014643	0.34889	T	0.120	0.33359	.	.	0.716472666699	0.71398	0.3680706392373733	0.36721	0.207598512814	0.23217	0.519183635712	0.41512	T	0.279484	0.65217	T	-0.109754	0.34807	T	-0.209526	0.53740	T	0.5982745885849	0.36332	D	0.889711	0.62218	D	0.13257124	0.30865	0.09701677	0.23075	0.13257124	0.30865	0.09701677	0.23074	-4.942	0.36861	T	.	.	0.103	0.18331	B	.;.	.;.	2.914617	0.38671	20.8	0.99185443465139111	0.54819	0.81242	0.40687	D	AEFBI	0.245607	0.36651	N	0.371068396733937	0.59859	4.169098	0.426407661434016	0.63217	4.550971	0.998424053712885	0.36942	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.69	4.72	0.59248	1.812000	0.38590	1.025000	0.23435	0.599000	0.40250	0.998000	0.41325	0.522000	0.25315	0.961000	0.51904	0.0:0.9236:0.0:0.0764	13.175	0.59043	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	.	.	.	.	.	.	.	.	0.07143	708.63	37	chr17	75631193	.	C	T	708.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.25;DP=234;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.43;ReadPosRankSum=-0.016;SOR=0.627	GT:AD:DP:GQ:PL	0/1:28,29:57:99:719,0,617	6	0	1	0
chr17	80222676	80222676	A	C	exonic	SLC26A11	.	nonsynonymous SNV	SLC26A11:NM_001166348:exon3:c.A256C:p.M86L,SLC26A11:NM_001166349:exon3:c.A256C:p.M86L,SLC26A11:NM_001166347:exon4:c.A256C:p.M86L,SLC26A11:NM_173626:exon4:c.A256C:p.M86L	.	424	1086	12	0	0	12	0.00549451	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.294	.	0.0012	0.0081869	0.0052	9.61e-05	0.0004	0.0162	0.0035	0.0022	0.0066	0.0186	0.0046507	719	154602	rs141472706	0.0028	0.0028	0.0023	0.0034	0.0201	0.0028	0.0027	0.0189	0.0184	0.0008	0.0009	0.0179	0.0201	0.0032	0.0068	0.0006	0.0041	0.0188	0.0025	0.0025	0.0021	0.0029	0.0197	0.0023	0.0022	0.0166	0.0155	0.0003	0	0.0006	0.0153	0.0197	0.0043	0.0034	0.0010	0.0028	0.0168	0.106	0.29688	T	0.296	0.35582	T	0.021	0.18474	B	0.025	0.20508	B	0.001116	0.40219	N	0.310553	0.926442	0.36834	D	0.16	0.08945	N	-2.6	0.89888	D	-2.06	0.47175	N	0.598	0.61849	-0.7417	0.58365	T	0.306	0.67639	T	10	0.012810349	0.00375	T	.	.	.	0.294	0.61388	0.467	0.53891	0.50466331119	0.50103	0.6310794538286547	0.63041	0.108274543893	0.12206	0.48755222559	0.37100	T	0.39481	0.86879	T	-0.297286	0.08918	T	-0.184212	0.56131	T	0.00872753039014649	0.00107	T	0.926807	0.74412	D	0.2601104	0.49066	0.2477093	0.50306	0.2601104	0.49066	0.2477093	0.50305	-7.554	0.57989	D	.	.	0.156	0.38409	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.802983	0.22914	15.81	0.6047288325853053	0.06472	0.96883	0.71458	D	AEFDGBI	0.518418	0.54413	D	-0.933929777757009	0.10055	0.4787471	-0.800900294125512	0.14474	0.7564247	0.0858371849169665	0.15993	0.695654	0.57023	0	0.633656	0.55848	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.37	0.919	0.18518	2.379000	0.43973	2.898000	0.35432	-0.126000	0.13398	1.000000	0.71638	1.000000	0.68203	0.881000	0.42162	0.5771:0.0:0.4229:0.0	8.384	0.31651	835	0.38313	SLC26A/SulP transporter domain|Sulphate anion transporter, conserved site;.;SLC26A/SulP transporter domain|Sulphate anion transporter, conserved site;SLC26A/SulP transporter domain|Sulphate anion transporter, conserved site;SLC26A/SulP transporter domain|Sulphate anion transporter, conserved site;SLC26A/SulP transporter domain|Sulphate anion transporter, conserved site;SLC26A/SulP transporter domain|Sulphate anion transporter, 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	0.004028	0.000000	0.006793	0.000000	0.000000	0.008621	0.003049	0.007576	0.1429	2539.29	35	chr17	80222676	.	A	C	2539.29	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.5;DP=361;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=12.21;ReadPosRankSum=-0.039;SOR=0.655	GT:AD:DP:GQ:PL	0/1:55,37:92:99:952,0,1286	5	0	2	0
chr17	80347133	80347133	C	T	exonic	RNF213	.	nonsynonymous SNV	RNF213:NM_001256071:exon29:c.C8798T:p.A2933V	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.013121737207	.	.	2.497e-05	0	0	0	0	4.536e-05	0	0	1.94e-05	3	154602	rs768103241	1.505e-05	1.573e-05	1.225e-05	1.788e-05	0.0005	9.85e-06	8.41e-06	0.0001	7.541e-05	0	0	0	0	0	0.0005	1.529e-05	1.656e-05	1.159e-05	1.972e-05	1.97e-05	1.285e-05	2.691e-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	0.229	0.18371	T	0.238	0.24549	T	.	.	.	.	.	.	0.640402	0.05864	N	1.181070	1	0.08975	N	.	.	.	1.38	0.34050	T	-2.14	0.48523	N	0.083	0.05929	-0.9950	0.31299	T	0.078	0.31012	T	10	0.07310158	0.11001	T	0.013122	0.32271	T	0.084	0.24469	.	.	0.195762928549	0.19159	.	.	0.359186557532	0.37614	0.247867360711	0.03547	T	0.029476	0.21111	T	-0.234335	0.16079	T	-0.466726	0.25870	T	0.0381070874323263	0.03350	T	0.427357	0.11519	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.10787	B	.;.	.;.	-0.264478	0.02777	0.376	0.64336068040517458	0.07465	0.12923	0.17560	N	AEFGBI	0.069250	0.13697	N	-1.12600785272445	0.06184	0.2839821	-1.15120229910824	0.06746	0.3257797	2.62403795522675E-4	0.06244	0.719381	0.83141	0	0.702456	0.74545	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.82	0.00202	0.13371	-0.265000	0.08671	-2.418000	0.03779	-0.908000	0.02283	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3234:0.2857:0.3909:0.0	11.206	0.47995	856	0.34373	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1677.46	38	chr17	80347133	.	C	T	1677.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.86;DP=340;ExcessHet=0;FS=7.451;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.25;ReadPosRankSum=0.414;SOR=0.935	GT:AD:DP:GQ:PL	0/1:50,60:110:99:1688,0,1143	6	0	1	0
chr17	81528895	81528895	G	A	exonic	FSCN2	.	nonsynonymous SNV	FSCN2:NM_001077182:exon1:c.G364A:p.A122T,FSCN2:NM_012418:exon1:c.G364A:p.A122T	Retinitis pigmentosa 30	0	1520	2	0	0	2	0.000657462	.	.	.	491002	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.213	0.0344599420716	.	.	0.0001	0.0006	0	0	0	0.0001	0	0.0001	2.59e-05	4	154602	rs782798108	1.331e-05	1.573e-05	8.34e-06	1.837e-05	0.0006	8.51e-06	6.86e-06	0.0002	8.076e-05	3.051e-05	2.409e-05	0	2.64e-05	0	0.0006	7.283e-06	0	6.092e-05	5.255e-05	5.253e-05	6.422e-05	4.034e-05	7.237e-05	2.556e-05	1.83e-05	1.972e-05	1.124e-05	7.237e-05	0	6.539e-05	0	0	0	0	5.879e-05	0	0	0.002	0.72154	D	0.004	0.74150	D	0.989	0.62824	D	0.647	0.52336	P	0.000007	0.62929	D	0.061993	0.999999	0.58761	D	2.67	0.78151	M	1.84	0.24656	T	-2.73	0.58569	D	0.655	0.67822	-0.9390	0.42774	T	0.121	0.42165	T	10	0.8231399	0.81507	D	0.03446	0.55689	D	0.213	0.50496	0.767	0.89452	0.550842731861	0.54741	0.5795876004834515	0.57887	0.377018115732	0.39137	0.585646033287	0.50882	T	0.338192	0.70749	T	-0.0317979	0.47156	T	-0.283452	0.46450	T	0.595828473567963	0.36235	D	0.881012	0.60027	D	0.46004426	0.64673	0.46806195	0.69143	0.46004426	0.64674	0.46806195	0.69143	-10.974	0.79796	D	0.4631159438355798	0.54494	0.120	0.26886	B	.;.	.;.	4.561306	0.71881	25.7	0.99826491077926482	0.90852	0.94449	0.61202	D	AEFDBCI	0.551016	0.56325	D	0.382126125842531	0.60453	4.234434	0.276986953683154	0.54198	3.585578	0.999997790164536	0.74766	0.660377	0.49826	0	0.694456	0.67091	0	0.603688	0.36954	0	0.562822	0.20929	0	.	.	4.32	2.09	0.26154	7.101000	0.76647	7.009000	0.57224	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.404000	0.26872	0.0:0.1366:0.707:0.1564	10.368	0.43220	.	.	Fascin domain|Fascin 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	0.001523	0.000000	0.002732	0.002959	0.000000	0.000000	0.000000	0.000000	0.07143	1639.46	42	chr17	81528895	.	G	A	1639.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.24;DP=303;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.56;ReadPosRankSum=-0.706;SOR=0.733	GT:AD:DP:GQ:PL	0/1:40,59:99:99:1650,0,871	6	0	1	0
chr18	49153	49153	-	GGGTGG	exonic	TUBB8B	.	nonframeshift insertion	TUBB8B:NM_001358689:exon2:c.141_142insCCACCC:p.I47_N48insPP	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0032	0.0028	0.0034	0.0145	0.0036	0.0030	0	0.0035	3.88e-05	6	154602	rs777749325	0.0005	0.0027	0.0005	0.0005	0.0005	0.0005	0.0004	0.0005	0.0004	0.0004	0.0004	0.0003	0.0005	0.0007	0.0002	0.0005	0.0005	0.0004	0.0006	0.0033	0.0007	0.0006	0.0034	0.0005	0.0005	0.0021	0.0017	0.0005	0	0.0010	0.0003	0.0034	0.0005	0	0.0005	0.0010	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	81.36	12	chr18	49153	.	T	TGGGTGG	81.36	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.524;DP=81;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=46.5;MQRankSum=-1.96;QD=13.56;ReadPosRankSum=-0.674;SOR=0.991	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:3,3:6:91:0|1:49147_G_A:91,0,117:49147	5	0	1	1
chr18	2795951	2795951	C	G	exonic	SMCHD1	.	nonsynonymous SNV	SMCHD1:NM_015295:exon46:c.C5722G:p.L1908V	Bosma arhinia microphthalmia syndrome, Autosomal dominant;Fascioscapulohumeral muscular dystrophy 2, digenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.0663525244197	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1458894102	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.39097	T	0.28	0.21678	T	0.97	0.56973	D	0.584	0.50293	P	.	.	.	.	0.56521	0.32247	D	2.455	0.71248	M	1.84	0.24656	T	-0.61	0.18042	N	0.42	0.45992	-1.1036	0.03683	T	0.095	0.36003	T	9	0.24225739	0.41419	T	0.066353	0.69850	D	0.071	0.20720	0.187	0.09646	0.437347911502	0.43356	0.4744823695367311	0.47367	0.503748791046	0.48683	0.457110285759	0.32915	T	0.107822	0.42035	T	-0.0866464	0.38626	T	-0.362238	0.37792	T	0.651644229888916	0.38532	D	0.846715	0.52677	T	0.08421903	0.19483	0.12688169	0.30551	0.08421903	0.19483	0.12688169	0.30551	-4.637	0.32633	T	0.6074466654160531	0.67482	0.099	0.16843	B	.	.	3.692158	0.52612	23.3	0.92670574869192957	0.22153	0.95462	0.64817	D	AEFBI	0.589466	0.58634	D	0.555221346596044	0.70402	5.496054	0.587235458581485	0.74024	6.067253	0.999989453182195	0.51787	0.732398	0.92422	0	0.724815	0.89359	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.42	5.42	0.78666	4.166000	0.57992	5.916000	0.51093	0.580000	0.29708	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	18.163	0.89648	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	.	.	.	.	.	.	.	.	0.07143	529.63	33	chr18	2795951	.	C	G	529.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.976;DP=222;ExcessHet=0;FS=2.337;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.99;ReadPosRankSum=-0.053;SOR=0.421	GT:AD:DP:GQ:PL	0/1:28,25:53:99:540,0,684	6	0	1	0
chr18	14513679	14513679	T	G	exonic	POTEC	.	nonsynonymous SNV	POTEC:NM_001137671:exon10:c.A1516C:p.K506Q	.	1001	337	183	1	0	185	0.215367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.000961216431828	.	.	.	.	.	.	.	.	.	.	8.41e-05	13	154602	rs28606506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.37118	T	0.267	0.22561	T	0.455	0.36245	P	0.137	0.33328	B	.	.	.	.	1	0.08975	N	2.35	0.67516	M	1.38	0.34050	T	0.11	0.05706	N	0.36	0.40164	-1.0459	0.15563	T	0.060	0.25273	T	9	0.10279083	0.18859	T	9.61E-4	0.00980	T	0.021	0.04004	0.44	0.49484	0.191931220699	0.18833	0.008575884169956268	0.00821	.	.	0.661467790604	0.61620	T	0.009409	0.08568	T	-0.232587	0.16309	T	-0.571872	0.15279	T	0.115140116944907	0.13948	T	0.559044	0.19511	T	0.0817621	0.18801	0.04864013	0.07268	0.0817621	0.18801	0.04864013	0.07268	-3.826	0.21193	T	.	.	0.126	0.26545	B	.	.	1.424813	0.18423	13.73	0.59010782571540543	0.06124	0.01638	0.05273	N	AEFI	0.034532	0.04293	N	-0.924811265974744	0.10264	0.4896489	-1.10812489953313	0.07544	0.3673648	1.29605380073252E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.53	-0.976	0.09761	1.060000	0.30139	.	.	0.332000	0.19570	0.003000	0.16062	0.000000	0.08366	0.028000	0.12845	0.0:0.4792:0.0:0.5208	4.177	0.09818	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4286	1890.48	127	chr18	14513679	.	T	G	1890.48	.	AC=6;AF=0.429;AN=14;BaseQRankSum=2.8;DP=845;ExcessHet=8.2628;FS=14.603;MLEAC=6;MLEAF=0.429;MQ=51.15;MQRankSum=-7.498;QD=2.38;ReadPosRankSum=-2.668;SOR=1.982	GT:AD:DP:GQ:PL	0/1:134,45:179:99:796,0,3418	1	0	6	0
chr18	23235986	23235986	G	A	exonic	CABLES1	.	nonsynonymous SNV	CABLES1:NM_001100619:exon6:c.G1277A:p.R426H,CABLES1:NM_001256438:exon6:c.G296A:p.R99H,CABLES1:NM_138375:exon6:c.G482A:p.R161H	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.0110952766119	.	.	1.656e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs757013390	6.84e-06	6.84e-06	6.806e-06	6.875e-06	4.637e-05	3.46e-06	2.52e-06	1.583e-05	9.3e-06	0	0	0	2.519e-05	0	0	2.698e-06	3.312e-05	4.637e-05	6.571e-06	6.567e-06	0	1.345e-05	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	0.038	0.53172	D	0.009	0.67890	D	0.484	0.36838	P	0.08	0.28873	B	0.000000	0.84330	N	0.048640	0.999999	0.81001	D	2.505	0.72935	M	0.85	0.50459	T	-2.17	0.54864	N	0.325	0.36569	-0.9713	0.36925	T	0.118	0.41560	T	10	0.17367864	0.32208	T	0.011095	0.28353	T	0.121	0.33580	.	.	0.486422812247	0.48275	0.5132966498681162	0.51251	0.65979765614	0.58824	0.380588918924	0.22339	T	0.51589	0.82976	D	-0.102057	0.36082	T	-0.28752	0.46029	T	0.892241179943085	0.54331	D	0.924208	0.72277	D	0.2689656	0.49969	0.13807297	0.32985	0.2689656	0.49969	0.13807297	0.32984	-6.783	0.60496	T	.	.	0.091	0.26700	B	.;.;.	.;.;.	4.867099	0.79695	27.2	0.99946165202771731	0.99901	0.92466	0.55777	D	AEFDBCI	0.872470	0.79434	D	0.0859240635334372	0.45807	2.831102	0.170358511714418	0.48230	3.041823	0.999999963069958	0.74766	0.741868	0.97996	0	0.702456	0.74545	0	0.774882	0.98623	0	0.714379	0.83352	0	.	.	5.47	3.65	0.40985	7.723000	0.83751	9.740000	0.81431	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0705:0.0:0.7926:0.1369	10.171	0.42086	853	0.34956	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1564.46	34	chr18	23235986	.	G	A	1564.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.11;DP=299;ExcessHet=0;FS=1.479;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.6;ReadPosRankSum=2.27;SOR=0.845	GT:AD:DP:GQ:PL	0/1:52,63:115:99:1575,0,1158	6	0	1	0
chr18	31388386	31388386	C	T	exonic	DSG4	.	nonsynonymous SNV	DSG4:NM_001134453:exon4:c.C236T:p.S79L,DSG4:NM_177986:exon4:c.C236T:p.S79L	Hypotrichosis 6, Autosomal recessive	1	1486	35	0	0	35	0.0116395	.	.	.	715937	Hypotrichosis_6|DSG4-related_disorder|not_provided	MONDO:MONDO:0011932,MedGen:C1842839,OMIM:607903,Orphanet:55654|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.010	.	0.0048	0.00439297	0.0042	0.0046	0.0027	0	0	0.0051	0.0044	0.0053	0.0040297	623	154602	rs36040686	0.0032	0.0032	0.0030	0.0033	0.0191	0.0031	0.0031	0.0162	0.0151	0.0050	0.0033	0.0436	0	0.0003	0.0191	0.0020	0.0065	0.0048	0.0038	0.0038	0.0039	0.0037	0.0060	0.0035	0.0034	0.0043	0.0037	0.0031	0	0.0042	0.0542	0	0.0004	0.0340	0.0021	0.0057	0.0060	0.264	0.16358	T	0.155	0.31936	T	0.054	0.22658	B	0.046	0.24676	B	0.727362	0.06349	N	1.212930	0.999999	0.08975	N	0.915	0.23335	L	0.74	0.50459	T	-1.75	0.41428	N	0.107	0.10340	-0.9614	0.38916	T	0.073	0.29675	T	10	0.0033466518	0.00058	T	.	.	.	0.010	0.01040	.	.	0.276898752692	0.27294	0.13389012196261588	0.13313	0.029762402894	0.03065	0.298493921757	0.10177	T	0.108723	0.42200	T	-0.647278	0.00075	T	-0.698542	0.05906	T	0.00208938657306135	0.00022	T	0.162684	0.01721	T	0.038331885	0.05086	0.049947403	0.07739	0.03988346	0.05589	0.039548468	0.04072	-2.372	0.04964	T	.	.	0.072	0.07224	B	.;.	.;.	-0.453279	0.02022	0.181	0.92623994699646028	0.22094	0.01138	0.04130	N	AEFI	0.026801	0.02075	N	-1.0116172173723	0.08362	0.3917972	-1.0389198890453	0.08939	0.4420613	0.00372337501722856	0.10253	0.487112	0.14033	0	0.573888	0.26702	0	0.491513	0.07944	0	0.564101	0.26826	0	.	.	5.73	-1.72	0.07671	-1.225000	0.03066	-3.198000	0.02978	-0.850000	0.02721	0.000000	0.06391	0.000000	0.08366	0.025000	0.12405	0.1368:0.358:0.0:0.5052	6.536	0.21550	643	0.63827	Cadherin-like|Cadherin-like;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.025176	0.030303	0.036685	0.043860	0.000000	0.008621	0.009146	0.007576	0.1429	1709.24	34	chr18	31388386	.	C	T	1709.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.5;DP=313;ExcessHet=0.3476;FS=1.297;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=11.39;ReadPosRankSum=1.92;SOR=0.589	GT:AD:DP:GQ:PL	0/1:45,30:75:99:733,0,1090	5	0	2	0
chr18	31399464	31399464	G	A	exonic	DSG4	.	nonsynonymous SNV	DSG4:NM_001134453:exon9:c.G1198A:p.G400R,DSG4:NM_177986:exon9:c.G1198A:p.G400R	Hypotrichosis 6, Autosomal recessive	0	1484	38	0	0	38	0.0126414	.	.	.	576181	DSG4-related_disorder|not_provided|Hypotrichosis_6	.|MedGen:C3661900|MONDO:MONDO:0011932,MedGen:C1842839,OMIM:607903,Orphanet:55654	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.179	.	0.0050	0.00439297	0.0043	0.0046	0.0027	0	0	0.0052	0.0044	0.0058	0.0040685	629	154602	rs35378785	0.0033	0.0033	0.0031	0.0034	0.0203	0.0032	0.0032	0.0173	0.0162	0.0051	0.0033	0.0435	0	0.0003	0.0203	0.0021	0.0067	0.0055	0.0039	0.0039	0.0039	0.0039	0.0068	0.0036	0.0035	0.0050	0.0044	0.0031	0	0.0042	0.0541	0	0.0004	0.0408	0.0022	0.0057	0.0068	0.74	0.03696	T	0.19	0.28860	T	0.531	0.90584	P	0.247	0.80445	B	0.077327	0.21110	N	0.246143	0.939708	0.37270	D	0.495	0.13372	N	0.35	0.59037	T	-0.51	0.15986	N	0.689	0.69474	-0.8261	0.53550	T	0.188	0.53827	T	10	0.0041315258	0.00081	T	.	.	.	0.179	0.44899	0.414	0.45216	0.800236202846	0.79837	0.3010113199831233	0.30014	0.252222878455	0.27793	0.465308904648	0.34037	T	0.102842	0.41094	T	-0.180223	0.23702	T	-0.0276499	0.68524	D	0.0494035485741406	0.05395	T	0.692831	0.31596	T	0.10689115	0.25275	0.13068023	0.31396	0.097276576	0.22927	0.090244345	0.21151	-7.606	0.58353	D	.	.	0.346	0.56311	A	.;.	.;.	2.539861	0.32855	19.17	0.9951036776297365	0.68618	0.73441	0.35924	D	AEFDGBCI	0.203974	0.33044	N	0.267983728041288	0.54534	3.618692	0.339373258754207	0.57870	3.954535	0.999999994021206	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.33	5.33	0.75683	3.309000	0.51613	2.699000	0.34147	0.676000	0.76740	0.291000	0.25242	1.000000	0.68203	0.979000	0.57723	0.0758:0.0:0.9242:0.0	12.717	0.56492	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	0.027694	0.035354	0.038043	0.046784	0.000000	0.008621	0.009146	0.011364	0.2143	4275.72	33	chr18	31399464	.	G	A	4275.72	.	AC=3;AF=0.214;AN=14;BaseQRankSum=1.56;DP=478;ExcessHet=1.1394;FS=1.791;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=0.082;SOR=0.802	GT:AD:DP:GQ:PL	0/1:87,87:174:99:2231,0,2082	4	0	3	0
chr18	33370130	33370130	T	A	exonic	CCDC178	.	nonsynonymous SNV	CCDC178:NM_001105528:exon6:c.A268T:p.N90Y,CCDC178:NM_001308126:exon6:c.A268T:p.N90Y,CCDC178:NM_001371120:exon6:c.A268T:p.N90Y,CCDC178:NM_001371121:exon6:c.A268T:p.N90Y,CCDC178:NM_198995:exon6:c.A268T:p.N90Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.320	0.0622002548694	.	.	8.309e-06	0	0	0	0	1.51e-05	0	0	6.5e-06	1	154602	rs551693244	1.238e-05	1.3e-05	1.095e-05	1.382e-05	0.0009	7.74e-06	6.38e-06	0.0003	0.0002	0	0	0	0	0	0.0009	1.083e-05	1.665e-05	0	1.315e-05	1.313e-05	1.287e-05	1.345e-05	.	2.19e-06	8.2e-07	.	.	0	0	0	0	0	0	0.0068	0	0	0	0.002	0.78490	D	0.01	0.92824	D	1.0	0.90584	D	0.982	0.75477	D	.	.	.	.	0.617563	0.32676	D	2.475	0.71894	M	1.65	0.60610	T	-4.23	0.76655	D	0.835	0.90025	-0.1364	0.79252	T	0.334	0.70109	T	9	0.56418526	0.64957	D	0.062	0.68578	D	0.320	0.64215	0.473	0.54859	0.626983275866	0.62394	0.41979339151742284	0.41895	0.147516946697	0.16644	0.534331738949	0.43644	T	0.119344	0.44081	T	0.096216	0.63881	D	-0.0995688	0.63432	T	0.906020343900649	0.55992	D	0.860814	0.57273	D	0.25756484	0.48802	0.38624164	0.63521	0.25756484	0.48802	0.38624164	0.63521	-4.565	0.31818	T	.	.	0.390	0.65372	A	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.284817	0.65301	24.8	0.92727732042820099	0.22227	0.87933	0.47648	D	AEDBIJ	0.554360	0.56523	D	0.50790745066596	0.67557	5.097464	0.459164747593341	0.65309	4.807338	0.942962731689426	0.27546	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.5	5.5	0.81386	4.122000	0.57661	7.847000	0.70787	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.835000	0.39381	0.0:0.0:0.0:1.0	12.002	0.52524	766	0.49742	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.017241	0.000000	0.000000	0.07143	768.63	36	chr18	33370130	.	T	A	768.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.932;DP=223;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.25;ReadPosRankSum=3.17;SOR=0.633	GT:AD:DP:GQ:PL	0/1:27,31:58:99:779,0,751	6	0	1	0
chr18	33852850	33852850	G	T	exonic	NOL4	.	nonsynonymous SNV	NOL4:NM_001353236:exon6:c.C862A:p.Q288K,NOL4:NM_001198549:exon7:c.C1054A:p.Q352K,NOL4:NM_001198548:exon9:c.C1603A:p.Q535K,NOL4:NM_001198546:exon10:c.C1717A:p.Q573K,NOL4:NM_001353234:exon10:c.C1495A:p.Q499K,NOL4:NM_001384470:exon10:c.C1375A:p.Q459K,NOL4:NM_001198547:exon11:c.C1687A:p.Q563K,NOL4:NM_001282527:exon11:c.C1252A:p.Q418K,NOL4:NM_001353237:exon11:c.C1252A:p.Q418K,NOL4:NM_001384468:exon11:c.C1786A:p.Q596K,NOL4:NM_001384469:exon11:c.C1780A:p.Q594K,NOL4:NM_001384473:exon11:c.C964A:p.Q322K,NOL4:NM_003787:exon11:c.C1909A:p.Q637K,NOL4:NM_001353233:exon12:c.C1156A:p.Q386K,NOL4:NM_001353235:exon12:c.C1444A:p.Q482K,NOL4:NM_001384467:exon12:c.C1978A:p.Q660K,NOL4:NM_001384471:exon12:c.C1252A:p.Q418K,NOL4:NM_001384472:exon13:c.C1054A:p.Q352K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.397	0.0180109713626	.	.	8.506e-06	0	0	0	0	0	0	6.867e-05	6.5e-06	1	154602	rs762249074	1.096e-05	1.163e-05	9.543e-06	1.239e-05	0.0002	6.49e-06	5.25e-06	5.76e-06	4.55e-06	0	0	0	0	0	0.0002	1.08e-05	1.659e-05	2.323e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.008	0.74150	D	0.993	0.65571	D	0.985	0.76457	D	0.000002	0.62929	D	0.000000	0.999995	0.81001	D	1.385	0.34509	L	.	.	.	-2.84	0.65397	D	0.736	0.76946	-0.3731	0.72866	T	0.353	0.71611	T	9	0.6057196	0.67163	D	0.018011	0.39926	T	0.397	0.71163	0.343	0.33626	0.340919117937	0.33698	0.9511095914621569	0.95094	1.28839598421	0.82723	0.849569559097	0.89550	D	0.531546	0.83798	D	0.300557	0.83013	D	0.294583	0.87942	D	0.927145421504974	0.58983	D	0.90371	0.66210	D	0.69354355	0.77704	0.6770729	0.81035	0.69354355	0.77705	0.6770729	0.81036	-13.227	0.90276	D	.	.	0.578	0.74177	P	.;.;.;.;.	.;.;.;.;.	4.856659	0.79435	27.1	0.98917907594193155	0.48509	0.99152	0.91994	D	AEFGI	0.954409	0.97148	D	0.729768789488497	0.81586	7.55656	0.798397835312555	0.89681	10.077	0.999999785325227	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.96	5.96	0.96695	9.477000	0.96864	11.844000	0.97886	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	20.408	0.99014	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	.	.	.	.	.	.	.	.	0.07143	1113.45	35	chr18	33852850	.	G	T	1113.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.053;DP=273;ExcessHet=0;FS=1.762;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.1;ReadPosRankSum=-1.852;SOR=0.478	GT:AD:DP:GQ:PL	0/1:47,45:92:99:1124,0,1156	6	0	1	0
chr18	47035110	47035110	G	A	exonic	ELOA2	.	nonsynonymous SNV	ELOA2:NM_016427:exon1:c.C155T:p.T52M	.	423	1096	3	0	0	3	0.00136674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.0031752199098	0.0016	0.000998403	0.0023	0.0001	0.0005	0	0.0068	0.0033	0.0012	0.0002	0.0019081	295	154602	rs141717482	0.0029	0.0029	0.0030	0.0028	0.0033	0.0028	0.0028	0.0032	0.0032	0.0004	0.0004	0	0	0.0065	0.0002	0.0033	0.0022	0.0005	0.0021	0.0021	0.0020	0.0022	0.0032	0.0019	0.0018	0.0029	0.0027	0.0005	0	0.0003	0	0	0.0065	0	0.0032	0.0028	0.0008	0.027	0.46513	D	0.092	0.57104	T	1.0	0.90584	D	0.954	0.69447	D	0.000399	0.44960	U	0.000000	0.999996	0.08975	N	2.315	0.66250	M	2.66	0.12575	T	-4.17	0.75456	D	0.241	0.32370	-1.0830	0.06776	T	0.061	0.25599	T	10	0.016561985	0.00350	T	0.003175	0.06936	T	0.052	0.14661	.	.	0.239305524855	0.23518	0.40881804230257973	0.40797	0.268677020668	0.29385	0.357514500618	0.19023	T	0.186647	0.54000	T	-0.543106	0.00321	T	-0.555332	0.16818	T	0.0735073023983241	0.09134	T	0.913509	0.72903	D	0.06575404	0.14082	0.11764203	0.28399	0.06575404	0.14081	0.11764203	0.28398	-10.173	0.74941	D	.	.	0.190	0.41557	B	.;.	.;.	2.385425	0.30625	18.49	0.99441100318857867	0.64770	0.01502	0.04975	N	AEFBI	0.024523	0.01533	N	-0.195463903290164	0.33322	1.889218	-0.53521202497167	0.21199	1.145707	3.26594472682498E-4	0.06540	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	2.56	0.181	0.14356	1.060000	0.30139	-0.154000	0.11389	0.570000	0.28895	0.033000	0.20612	0.000000	0.08366	0.002000	0.04165	0.5108:0.0:0.4892:0.0	4.444	0.11012	771	0.49057	Transcription factor IIS, N-terminal|Transcription factor IIS, N-terminal|Transcription elongation factor, TFIIS/CRSP70, N-terminal, sub-type;Transcription factor IIS, N-terminal|Transcription factor IIS, N-terminal|Transcription elongation factor, TFIIS/CRSP70, N-terminal, sub-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	0.001157	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	804.27	18	chr18	47035110	.	G	A	804.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.219;DP=218;ExcessHet=0;FS=1.035;MLEAC=1;MLEAF=0.083;MQ=49.7;MQRankSum=5.01;QD=13.4;ReadPosRankSum=-0.6;SOR=0.502	GT:AD:DP:GQ:PL	0/1:28,32:60:99:814,0,648	5	0	1	1
chr18	58536450	58536450	G	T	exonic	ALPK2	.	nonsynonymous SNV	ALPK2:NM_052947:exon5:c.C3737A:p.S1246Y	.	429	1085	8	0	0	8	0.00367309	.	.	.	1786850	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.053	0.0164542215967	0.0012	0.000798722	0.0009	0.0005	0.0003	0	0	0.0014	0.0011	0.0002	0.0009379	145	154602	rs151102442	0.0012	0.0012	0.0012	0.0012	0.0036	0.0012	0.0012	0.0024	0.0021	0.0003	0.0006	0.0015	0	5.626e-05	0.0036	0.0014	0.0014	0.0003	0.0008	0.0008	0.0009	0.0007	0.0014	0.0007	0.0006	0.0012	0.0011	0.0004	0	0.0004	0.0006	0	9.418e-05	0.0068	0.0014	0.0005	0	0.022	0.48642	D	0.257	0.23231	T	0.926	0.51467	P	0.556	0.49411	P	0.015174	0.01409	N	2.179350	1	0.08975	N	0.975	0.24501	L	0.78	0.49358	T	-2.15	0.48687	N	0.169	0.17966	-0.9986	0.30311	T	0.223	0.58652	T	10	0.019728959	0.00444	T	0.016454	0.37712	T	0.053	0.14996	.	.	0.671345282208	0.66856	0.10295188182976175	0.10225	0.306521263567	0.32958	0.295510172844	0.09734	T	0.01024	0.09261	T	-0.487507	0.00671	T	-0.497674	0.22589	T	0.0177731125919662	0.00506	T	0.561144	0.19645	T	0.06364406	0.13422	0.0838684	0.19251	0.06364406	0.13422	0.0838684	0.19251	-6.557	0.50724	T	.	.	0.120	0.24867	B	.	.	0.885357	0.12589	9.114	0.74326821332451498	0.10654	0.08774	0.14653	N	AEFGBHCI	0.136292	0.25691	N	-0.230568247740873	0.31885	1.792448	-0.387477002250301	0.25368	1.39473	0.999999443994169	0.74766	0.554377	0.28877	0	0.52208	0.09955	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	5.77	3.0	0.33773	1.009000	0.29487	3.115000	0.36376	0.676000	0.76740	0.689000	0.28522	0.245000	0.23879	0.007000	0.07825	0.2856:0.0:0.7144:0.0	6.728	0.22557	975	0.05339	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.001359	0.005848	0.050000	0.000000	0.006098	0.000000	0.07143	2246.63	60	chr18	58536450	.	G	T	2246.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.004;DP=661;ExcessHet=0;FS=5.019;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.7;ReadPosRankSum=-0.398;SOR=0.443	GT:AD:DP:GQ:PL	0/1:95,97:192:99:2257,0,2403	6	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	.	.	.	.	.	.	.	.	0.5	693.59	29	chr18	65824683	.	C	G	693.59	.	AC=5;AF=0.5;AN=10;BaseQRankSum=0.023;DP=379;ExcessHet=8.9625;FS=442.858;MLEAC=5;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.6;ReadPosRankSum=1.02;SOR=9.401	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,25:64:99:0|1:65824683_C_G:198,0,733:65824683	0	0	5	2
chr18	74353735	74353735	C	T	exonic	C18orf63	.	nonsynonymous SNV	C18orf63:NM_001174123:exon12:c.C1468T:p.R490C	.	440	1081	1	0	0	1	0.000462321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.206	0.0129602597097	.	0.000199681	7.005e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs572659007	2.024e-05	1.915e-05	1.855e-05	2.197e-05	0.0005	1.403e-05	1.208e-05	0.0003	0.0003	3.166e-05	0	0	0.0005	0	0	4.635e-06	0	5.049e-05	2.629e-05	2.626e-05	3.856e-05	1.345e-05	0.0006	8.14e-06	5.14e-06	0.0002	8.394e-05	0	0	0	0	0.0006	0	0	0	0	0.0002	.	.	.	0.077	0.42436	T	1.0	0.90584	D	0.938	0.67350	D	0.052183	0.22916	N	0.379064	1	0.08975	N	2.42	0.70002	M	0.87	0.46412	T	.	.	.	0.271	0.30687	-0.9696	0.37283	T	0.166	0.50372	T	9	0.059342057	0.07118	T	0.01296	0.31981	T	.	.	0.282	0.23801	0.365317461125	0.36143	0.6245759726350817	0.62390	.	.	.	.	.	0.094343	0.39397	T	-0.27371	0.11346	T	-0.259856	0.48839	T	0.325168306054829	0.26030	T	0.59804	0.22252	T	0.12449977	0.29209	0.14574455	0.34554	0.12449977	0.29209	0.14574455	0.34553	-4.108	0.25408	T	.	.	0.152	0.33732	B	.	.	2.231157	0.28483	17.81	0.37221213982555451	0.02440	0.05650	0.11563	N	AEFGBCI	0.052497	0.09376	N	-0.375094303831125	0.26359	1.437995	-0.600761177059275	0.19473	1.044948	0.0309106959571959	0.13972	0.59774	0.34471	0	0.615948	0.52940	0	0.547309	0.15389	0	0.63947	0.58350	0	.	.	5.42	0.418	0.15647	0.053000	0.14067	2.215000	0.31401	-0.117000	0.14459	0.009000	0.18154	0.006000	0.19429	0.061000	0.16044	0.5892:0.1541:0.2567:0.0	4.758	0.12467	988	0.01987	Domain of unknown function DUF4708	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	2436.29	34	chr18	74353735	.	C	T	2436.29	.	AC=2;AF=0.143;AN=14;BaseQRankSum=3.15;DP=355;ExcessHet=0.3476;FS=3.218;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=0.897;SOR=0.952	GT:AD:DP:GQ:PL	0/1:54,43:97:99:1116,0,1236	5	0	2	0
chr18	79373903	79373903	A	G	exonic	ATP9B	.	nonsynonymous SNV	ATP9B:NM_001306085:exon28:c.A3076G:p.I1026V,ATP9B:NM_198531:exon28:c.A3076G:p.I1026V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.0104317513341	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0012	0.0004	0.0004	0.0005	0.0004	0.0004	0.0004	0.0004	0.0003	0	0.0001	2.767e-05	4.173e-05	0.0005	0.0005	0.0003	0.0001	0	6.588e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.002	0.08700	B	0.000007	0.62929	N	0.106321	0.999956	0.52396	D	.	.	.	-0.34	0.68474	T	0.49	0.02993	N	0.356	0.39760	-1.0003	0.29831	T	0.106	0.38685	T	10	0.17882419	0.32987	T	0.010432	0.26958	T	0.125	0.34456	0.516	0.61611	0.557831953242	0.55443	0.32797818657124184	0.32710	0.19016546305	0.21331	0.641342043877	0.58755	T	0.051017	0.28760	T	-0.0924065	0.37678	T	-0.370512	0.36829	T	0.962732970714569	0.66454	D	0.929107	0.73907	D	0.025876695	0.01576	0.035724007	0.02878	0.025876695	0.01576	0.035724007	0.02878	-4.704	0.33453	T	.	.	0.076	0.05756	B	.;.	.;.	1.506156	0.19358	14.22	0.4022302230854744	0.02825	0.97863	0.77695	D	AEFBI	0.690181	0.65060	D	-0.529217151314464	0.21140	1.119708	-0.32364514690563	0.27337	1.516199	0.922846515319302	0.26722	0.706298	0.61202	0	0.694456	0.67091	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.89	3.71	0.41733	5.906000	0.69639	0.174000	0.15553	0.756000	0.94297	1.000000	0.71638	0.001000	0.17328	0.726000	0.34967	0.9163:0.0:0.0837:0.0	10.024	0.41234	.	.	P-type ATPase, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	355.42	35	chr18	79373903	.	A	G	355.42	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-0.847;DP=232;ExcessHet=0;FS=45.313;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.11;ReadPosRankSum=1.49;SOR=5.279	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:19,13:32:99:0|1:79373902_C_T:364,0,630:79373902	4	0	1	2
chr18	79373905	79373905	C	G	exonic	ATP9B	.	nonsynonymous SNV	ATP9B:NM_001306085:exon28:c.C3078G:p.I1026M,ATP9B:NM_198531:exon28:c.C3078G:p.I1026M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.0345994434534	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	0.0038	0.0009	0.0008	0.0010	0.0008	0.0008	0.0010	0.0009	0.0006	2.243e-05	0.0002	0.0001	1.877e-05	0.0007	0.0010	0.0008	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.26409	T	0.131	0.34959	T	0.354	0.33710	B	0.045	0.30390	B	0.000007	0.62929	D	0.106321	1	0.81001	D	.	.	.	-0.78	0.73631	T	-1.25	0.31576	N	0.772	0.80473	-0.7945	0.55467	T	0.230	0.59608	T	10	0.6346408	0.68711	D	0.034599	0.55783	D	0.342	0.66392	0.54	0.65161	0.652458548239	0.64956	0.694288075113171	0.69369	0.260033580267	0.28572	0.683687150478	0.64798	T	0.10075	0.40685	T	-0.0241352	0.48263	T	-0.272445	0.47572	T	0.36296334862709	0.27525	T	0.933407	0.75038	D	0.09914479	0.23395	0.10145065	0.24287	0.09914479	0.23395	0.10145065	0.24286	-6.858	0.52989	T	.	.	0.133	0.28835	B	.;.	.;.	1.363101	0.17722	13.33	0.95841953356481135	0.27968	0.40437	0.26436	N	AEFBI	0.191278	0.31848	N	-0.675120176808742	0.16732	0.8550748	-0.728338547967329	0.16257	0.8591364	0.00264162814707333	0.09600	0.706298	0.61202	0	0.694456	0.67091	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.89	-2.28	0.06438	-0.715000	0.05099	-0.654000	0.08013	-0.182000	0.10109	0.002000	0.15269	0.008000	0.19753	0.773000	0.36634	0.0995:0.4512:0.0:0.4493	8.239	0.30810	.	.	P-type ATPase, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.375	380.07	29	chr18	79373905	.	C	G	380.07	.	AC=3;AF=0.375;AN=8;BaseQRankSum=0.803;DP=206;ExcessHet=2.4304;FS=107.109;MLEAC=4;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.39;ReadPosRankSum=1.63;SOR=6.868	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:21,13:34:99:0|1:79373902_C_T:359,0,644:79373902	1	0	3	3
chr18	79373906	79373906	C	T	exonic	ATP9B	.	nonsynonymous SNV	ATP9B:NM_001306085:exon28:c.C3079T:p.L1027F,ATP9B:NM_198531:exon28:c.C3079T:p.L1027F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.0284690929236	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	6.84e-07	0	1.376e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	0.554	0.41464	P	0.197	0.43233	B	0.000044	0.53742	D	0.072519	0.999999	0.58761	D	.	.	.	-1.06	0.76819	T	-2.04	0.46842	N	0.573	0.62950	-0.9349	0.43409	T	0.119	0.41648	T	10	0.361637	0.52779	T	0.028469	0.51139	D	0.365	0.68495	0.508	0.60386	0.815369968599	0.81363	0.8176144227679487	0.81718	0.338732872668	0.35836	0.746733427048	0.73965	T	0.144628	0.48135	T	0.0232865	0.54826	T	-0.204327	0.54237	T	0.985363662242889	0.76380	D	0.961204	0.85427	D	0.28799716	0.51806	0.31295186	0.57294	0.28799716	0.51806	0.31295186	0.57294	-11.447	0.83762	D	.	.	0.676	0.71986	P	.;.	.;.	3.098208	0.41745	21.4	0.99739806707809964	0.83409	0.69529	0.34224	D	AEFBI	0.189841	0.31708	N	-0.293001453477025	0.29417	1.631174	-0.168557634840095	0.32700	1.863048	0.0147255712762604	0.12630	0.706298	0.61202	0	0.694456	0.67091	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.89	3.95	0.44952	0.466000	0.21731	3.026000	0.36022	0.599000	0.40250	0.056000	0.21631	0.996000	0.32793	0.811000	0.38219	0.1604:0.7591:0.0:0.0805	7.951	0.29178	.	.	P-type ATPase, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	368.39	35	chr18	79373906	.	C	T	368.39	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-0.739;DP=213;ExcessHet=0;FS=107.109;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.84;ReadPosRankSum=1.74;SOR=6.868	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:21,13:34:99:0|1:79373902_C_T:359,0,644:79373902	4	0	1	2
chr19	624879	624879	C	T	exonic	POLRMT	.	nonsynonymous SNV	POLRMT:NM_005035:exon5:c.G980A:p.G327E	.	409	1107	6	0	0	6	0.0027027	.	.	.	3369667	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.193	0.29397153573	.	.	0.0001	0	0	0	0	0.0001	0	0.0005	0.0001164	18	154602	rs549647427	6.232e-05	6.225e-05	5.042e-05	7.433e-05	0.0016	5.167e-05	4.785e-05	0.0008	0.0006	0	0	3.834e-05	0	0	0.0016	3.868e-05	0.0002	0.0003	7.222e-05	7.217e-05	7.708e-05	6.714e-05	0.0004	3.968e-05	3.125e-05	7.299e-05	3.032e-05	0	0	0	0	0	0	0.0102	5.881e-05	0.0009	0.0004	.	.	.	0.011	0.64786	D	0.991	0.64070	D	0.935	0.67021	D	0.000070	0.52346	D	0.167447	0.999757	0.20482	N	2.455	0.71248	M	.	.	.	.	.	.	0.427	0.46649	-0.7712	0.56792	T	0.292	0.66412	T	10	0.20647863	0.36910	T	0.293972	0.90659	D	.	.	0.637	0.77361	0.60055981612	0.59737	0.7047992716114283	0.70421	0.89452390681	0.70386	0.354479849339	0.18579	T	0.139826	0.47404	T	-0.264001	0.12435	T	-0.306477	0.44037	T	0.194088386498514	0.20083	T	0.735926	0.35246	T	0.83400035	0.86183	0.44999534	0.67990	0.83400035	0.86184	0.44999534	0.67990	-8.662	0.65497	D	.	.	0.256	0.57317	B	.;.	.;.	3.072809	0.41311	21.3	0.97643384180452475	0.35091	0.21781	0.21522	N	AEFBI	0.079576	0.16075	N	-0.23627028464525	0.31655	1.777183	-0.48624886105965	0.22532	1.224264	0.999828413436901	0.43622	0.722319	0.85440	0	0.702456	0.74545	0	0.698795	0.65105	0	0.635551	0.53088	0	.	.	4.12	1.97	0.25278	2.224000	0.42587	2.022000	0.30213	-0.202000	0.08738	0.067000	0.21986	0.729000	0.26404	0.017000	0.10941	0.0:0.7118:0.0:0.2882	7.580	0.27128	994	0.00715	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.011364	0.07143	1014.49	38	chr19	624879	.	C	T	1014.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.025;DP=282;ExcessHet=0;FS=5.669;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.8;ReadPosRankSum=-1.806;SOR=1.313	GT:AD:DP:GQ:PL	0/1:44,42:86:99:1025,0,1148	6	0	1	0
chr19	2433957	2433957	C	T	exonic	LMNB2	.	nonsynonymous SNV	LMNB2:NM_032737:exon8:c.G1351A:p.V451I	.	390	1128	4	0	0	4	0.00176991	.	.	.	570621	Lipodystrophy,_partial,_acquired,_susceptibility_to|Progressive_myoclonic_epilepsy_type_9	MONDO:MONDO:0100476,MedGen:C3887501,OMIM:608709|MONDO:MONDO:0014685,MedGen:C4225289,OMIM:616540,Orphanet:457265	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.022	0.0276272879909	.	0.000199681	0.0001	0	0.0008	0	0	9.739e-05	0	0	0.00011	17	154602	rs551737995	9.527e-05	9.508e-05	9.82e-05	9.23e-05	0.0006	8.217e-05	7.731e-05	0.0005	0.0004	0.0005	0.0006	0.0004	5.039e-05	0	0.0005	5.847e-05	0.0002	0	6.563e-05	6.561e-05	7.707e-05	5.369e-05	0.0003	3.513e-05	2.613e-05	0.0001	8.276e-05	2.405e-05	0	0.0003	0	0.0002	0	0	4.409e-05	0	0	.	.	.	0.293	0.20811	T	.	.	.	.	.	.	0.029196	0.25490	N	0.382679	0.964468	0.25980	N	.	.	.	-1.78	0.83737	D	.	.	.	0.11	0.09631	-1.0374	0.18109	T	0.049	0.20829	T	8	0.022878438	0.00583	T	0.027627	0.50416	D	0.022	0.04323	.	.	0.184605227958	0.18053	0.10513336517012888	0.10443	0.201101557789	0.22511	0.40312564373	0.25504	T	0.252689	0.62311	T	-0.389042	0.02729	T	-0.427858	0.30178	T	0.0252373380606201	0.01303	T	0.451355	0.12777	T	0.037574083	0.04843	0.050125677	0.07803	0.037574083	0.04843	0.050125677	0.07803	-4.743	0.33920	T	.	.	0.078	0.07036	B	.	.	1.046573	0.14277	10.85	0.5887755014941124	0.06093	0.49335	0.28410	N	AEFDBCI	0.274050	0.38933	N	-0.845009022039314	0.12172	0.5917483	-0.793236002877398	0.14661	0.767186	2.99393587335253E-4	0.06406	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	3.79	2.73	0.31266	2.209000	0.42445	0.415000	0.18155	0.520000	0.23804	0.053000	0.21524	0.000000	0.08366	0.051000	0.15275	0.0:0.7974:0.2026:0.0	10.249	0.42538	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.001362	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	838.63	40	chr19	2433957	.	C	T	838.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.947;DP=253;ExcessHet=0;FS=0.908;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.81;ReadPosRankSum=0.201;SOR=0.879	GT:AD:DP:GQ:PL	0/1:36,35:71:99:849,0,822	6	0	1	0
chr19	3179282	3179282	G	A	exonic	S1PR4	.	nonsynonymous SNV	S1PR4:NM_003775:exon1:c.G490A:p.G164S	.	384	1133	5	0	0	5	0.00220167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.0576804362786	0.0006	0.000798722	0.0005	0.0003	0	0.0044	0	0.0002	0.0012	0.0002	0.0004334	67	154602	rs150230356	0.0003	0.0003	0.0003	0.0003	0.0037	0.0003	0.0003	0.0032	0.0031	0.0003	0.0004	0.0002	0.0037	1.924e-05	0.0009	0.0002	0.0006	0.0002	0.0004	0.0004	0.0005	0.0003	0.0039	0.0003	0.0003	0.0026	0.0021	0.0001	0	0.0013	0	0.0039	0	0.0034	0.0002	0.0019	0	0.055	0.38407	T	0.492	0.11479	T	0.491	0.36960	P	0.079	0.28749	B	0.001893	0.37740	N	0.256132	0.994873	0.23423	N	0.805	0.20218	L	-0.6	0.71662	T	0.03	0.06612	N	0.078	0.05287	-0.9622	0.38761	T	0.177	0.52272	T	10	0.0030629039	0.00051	T	0.05768	0.67052	D	0.112	0.31546	.	.	0.294470080753	0.29051	0.44736165295158853	0.44654	0.451054849121	0.44863	0.516847848892	0.41183	T	0.053764	0.29535	T	-0.543714	0.00318	T	-0.554623	0.16886	T	0.0019070373556289	0.00019	T	0.513749	0.16498	T	0.07540871	0.16988	0.08276353	0.18913	0.07540871	0.16988	0.08276353	0.18913	-5.307	0.40012	T	.	.	0.114	0.22500	B	.	.	1.420859	0.18374	13.70	0.88130775620862933	0.17739	0.12523	0.17321	N	ALL	0.091910	0.18611	N	-1.22329145734571	0.04664	0.2109726	-1.30543795072804	0.04359	0.2054547	0.999999999475315	0.74766	0.648878	0.45929	0	0.52208	0.09955	0	0.596394	0.31383	0	0.562822	0.20929	0	.	.	4.17	0.526	0.16271	-0.120000	0.10633	0.966000	0.23025	-0.209000	0.08382	0.000000	0.06391	0.268000	0.24029	0.512000	0.29290	0.3074:0.0:0.6926:0.0	9.803	0.39945	988	0.01987	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	0.000505	0.000000	0.000000	0.000000	0.000000	0.000000	0.003067	0.000000	0.07143	847.44	38	chr19	3179282	.	G	A	847.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.732;DP=270;ExcessHet=0;FS=1.839;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.59;ReadPosRankSum=0.411;SOR=0.951	GT:AD:DP:GQ:PL	0/1:44,36:80:99:858,0,1007	6	0	1	0
chr19	3179886	3179886	G	T	exonic	S1PR4	.	nonsynonymous SNV	S1PR4:NM_003775:exon1:c.G1094T:p.R365L	.	426	1071	23	2	0	27	0.0124481	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.317	.	0.0051	0.00758786	0.0073	0.0009	0.0068	0.0169	0.0015	0.0072	0.0092	0.0097	0.0070892	1096	154602	rs3746072	0.0078	0.0078	0.0077	0.0080	0.0279	0.0077	0.0077	0.0265	0.0260	0.0008	0.0083	0.0076	0.0279	0.0027	0.0100	0.0074	0.0079	0.0099	0.0067	0.0067	0.0067	0.0066	0.0188	0.0063	0.0062	0.0158	0.0147	0.0014	0	0.0104	0.0089	0.0188	0.0023	0	0.0085	0.0109	0.0096	0.111	0.29029	T	0.357	0.17115	T	0.956	0.54666	P	0.421	0.45113	B	0.429652	0.12764	N	0.704329	0.999997	0.08975	N	2.24	0.63355	M	-1.51	0.81399	D	-0.9	0.24244	N	0.169	0.17966	-0.8482	0.52093	T	0.191	0.54286	T	10	0.0041588843	0.00082	T	.	.	.	0.317	0.63904	.	.	0.673373174604	0.67061	0.564520091980595	0.56379	0.520053127806	0.49812	0.707280218601	0.68198	T	0.11485	0.43298	T	-0.294597	0.09179	T	-0.181664	0.56369	T	0.0259824680036602	0.01403	T	0.644036	0.25562	T	0.18535873	0.39896	0.22214901	0.47049	0.18535873	0.39895	0.22214901	0.47048	-2.998	0.10159	T	.	.	0.253	0.48725	B	.	.	2.147419	0.27353	17.43	0.98146009376575305	0.38647	0.13145	0.17689	N	AEFDBHCI	.	.	.	-0.388218661261633	0.25887	1.408693	-0.494609765323304	0.22301	1.210653	0.999999999070413	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	3.94	3.94	0.44807	0.307000	0.19048	8.054000	0.76369	0.575000	0.29119	0.000000	0.06391	1.000000	0.68203	0.046000	0.14843	0.0:0.1823:0.8177:0.0	11.574	0.50105	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007553	0.005051	0.004076	0.008772	0.050000	0.008621	0.018293	0.026515	0.07143	975.46	38	chr19	3179886	.	G	T	975.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.93;DP=270;ExcessHet=0;FS=2.936;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.75;ReadPosRankSum=-0.866;SOR=0.414	GT:AD:DP:GQ:PL	0/1:41,42:83:99:986,0,1030	6	0	1	0
chr19	6380456	6380456	C	T	exonic	GTF2F1	.	nonsynonymous SNV	GTF2F1:NM_002096:exon13:c.G1379A:p.R460H	.	421	1100	1	0	0	1	0.000454339	.	.	.	3255481	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.244	0.0655805275565	.	.	1.647e-05	9.61e-05	0	0	0	0	0	6.056e-05	1.94e-05	3	154602	rs753328893	2.873e-05	2.873e-05	3.675e-05	2.063e-05	0.0001	2.151e-05	1.908e-05	4.358e-05	2.767e-05	0.0001	0.0001	0	2.519e-05	0	0	2.608e-05	1.656e-05	2.319e-05	3.288e-05	3.284e-05	5.142e-05	1.347e-05	0.0002	1.262e-05	7.99e-06	1.921e-05	1.032e-05	7.246e-05	0	0	0	0.0002	0	0	1.47e-05	0	0	0.003	0.68238	D	0.016	0.60972	D	0.044	0.21686	B	0.018	0.18489	B	0.000007	0.62929	D	0.064979	0.999999	0.58761	D	3.095	0.87515	M	0.23	0.59717	T	-3.63	0.69714	D	0.578	0.59986	-0.4246	0.71242	T	0.348	0.71249	T	10	0.74117625	0.74968	D	0.065581	0.69622	D	0.244	0.55061	0.802	0.92089	0.67681296001	0.67407	0.8168404217759385	0.81640	1.00253147904	0.74463	0.801340699196	0.82167	T	0.547238	0.84604	D	-0.133454	0.30939	T	-0.174428	0.57037	T	0.836229860782623	0.49022	D	0.968803	0.94423	D	0.63134223	0.74369	0.37114805	0.62350	0.63134223	0.74371	0.37114805	0.62350	-11.287	0.81209	D	.	.	0.788	0.76773	P	.;.	.;.	5.230743	0.87800	29.4	0.99947296354516069	0.99913	0.85972	0.45170	D	AEFDBCI	0.362826	0.45194	N	0.192692200323235	0.50847	3.27099	0.187837158256159	0.49178	3.12432	0.301544799278408	0.19194	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.52	2.33	0.27981	5.340000	0.65730	5.841000	0.50249	0.595000	0.32841	1.000000	0.71638	1.000000	0.68203	0.953000	0.50222	0.0:0.7635:0.1512:0.0853	8.879	0.34521	748	0.52143	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	5470.22	35	chr19	6380456	.	C	T	5470.22	.	AC=2;AF=0.143;AN=14;DP=368;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=30.39;SOR=0.885	GT:AD:DP:GQ:PL	1/1:0,180:180:99:5491,539,0	6	1	0	0
chr19	7870455	7870455	G	A	exonic	PRR36	.	nonsynonymous SNV	PRR36:NM_001190467:exon5:c.C2789T:p.P930L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.0140344727526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.961e-06	6.211e-06	1.881e-06	2.049e-06	0.0003	3.3e-07	1.2e-07	.	.	0	0	0	0	0	0.0003	1.173e-06	0	0	0	1.515e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.051	0.47828	T	.	.	.	.	.	.	.	.	.	.	0.999999	0.08975	N	.	.	.	.	.	.	.	.	.	0.176	0.18920	-0.8937	0.48605	T	0.160	0.49463	T	6	0.08829132	0.15189	T	0.014034	0.33868	T	.	.	.	.	0.262175524916	0.25828	0.19047542651165952	0.18965	.	.	0.657796919346	0.61094	T	0.022776	0.17502	T	-0.22676	0.17080	T	-0.563501	0.16048	T	0.055418661380697	0.06428	T	0.371663	0.08799	T	0.09745346	0.22973	0.09970701	0.23817	0.09745346	0.22973	0.09970701	0.23817	-6.67	0.51584	T	.	.	0.165	0.36295	B	.	.	1.367255	0.17770	13.36	0.78101512743506285	0.12156	0.05160	0.10975	N	AEFDGBCIJ	0.054124	0.09814	N	-1.0001060034922	0.08602	0.4039336	-1.27503650658386	0.04770	0.2258164	0.998513968341128	0.37109	0.675385	0.55134	0	0.48864	0.07623	0	0.693117	0.63056	0	0.562822	0.20929	0	.	.	1.2	-2.41	0.06184	0.038000	0.13749	-1.318000	0.05730	0.518000	0.23583	0.000000	0.06391	0.000000	0.08366	0.075000	0.16954	0.3831:0.0:0.6169:0.0	5.405	0.15618	923	0.18507	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	299.27	25	chr19	7870455	.	G	A	299.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.66;DP=207;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=59.38;MQRankSum=0.809;QD=9.65;ReadPosRankSum=-1.756;SOR=0.859	GT:AD:DP:GQ:PL	0/1:20,11:31:99:309,0,510	5	0	1	1
chr19	7871678	7871678	G	C	exonic	PRR36	.	nonsynonymous SNV	PRR36:NM_001190467:exon5:c.C1566G:p.D522E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.00631720991641	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0061	0.0002	0.0002	0.0004	0.0002	0.0002	0.0002	0.0002	0.0003	0	8.002e-05	2.812e-05	0	0.0004	0.0003	0.0003	6.372e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.27943	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.125	0.11769	-0.9982	0.30423	T	0.035	0.15291	T	6	0.06605524	0.09003	T	0.006317	0.16610	T	.	.	.	.	0.0401082797425	0.02173	0.04024571050867364	0.03970	.	.	0.37946036458	0.22180	T	0.013956	0.11972	T	-0.255113	0.13478	T	-0.604228	0.12458	T	0.0270435322631717	0.01550	T	0.30037	0.05618	T	0.023964053	0.01182	0.025669742	0.00620	0.023964053	0.01182	0.025669742	0.00619	-5.088	0.37780	T	.	.	0.367	0.57658	A	.	.	1.113604	0.14988	11.50	0.53643305433940836	0.04980	0.10200	0.15772	N	ALL	.	.	.	-0.794969245513708	0.13441	0.6621338	-0.886495899590302	0.12413	0.638379	0.999999999661444	0.74766	0.730579	0.87903	0	0.607795	0.50457	0	0.749866	0.98131	0	0.603991	0.37454	0	.	.	4.05	0.534	0.16320	0.450000	0.21475	0.712000	0.20944	0.606000	0.46413	0.025000	0.20085	0.000000	0.08366	0.014000	0.10232	0.353:0.0:0.647:0.0	5.982	0.18645	917	0.20147	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2143	307.26	36	chr19	7871678	.	G	C	307.26	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-3.376;DP=418;ExcessHet=1.1394;FS=221.189;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=1.23;ReadPosRankSum=0.44;SOR=8.318	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:65,20:85:99:0|1:7871678_G_C:227,0,1367:7871678	4	0	3	0
chr19	7900696	7900696	G	A	exonic	LRRC8E	.	nonsynonymous SNV	LRRC8E:NM_001268285:exon2:c.G1787A:p.R596Q,LRRC8E:NM_025061:exon3:c.G2174A:p.R725Q,LRRC8E:NM_001268284:exon4:c.G2174A:p.R725Q	.	.	.	.	.	.	.	.	.	.	.	2262918	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.063	0.0139451995944	.	.	2.507e-05	0	0	0	0	3.055e-05	0	6.078e-05	1.94e-05	3	154602	rs780932014	1.916e-05	1.915e-05	1.362e-05	2.477e-05	2.338e-05	1.329e-05	1.144e-05	1.627e-05	1.382e-05	0	0	0	0	0	0	2.338e-05	1.656e-05	1.159e-05	1.97e-05	1.97e-05	1.284e-05	2.689e-05	2.939e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.412e-05	0	0	0	0	0	0	2.939e-05	0	0	0.367	0.11659	T	0.579	0.08535	T	0.236	0.30770	B	0.043	0.24256	B	0.000033	0.55875	D	0.070284	0.608739	0.32602	D	0.74	0.18910	N	2.85	0.10578	T	-0.27	0.11366	N	0.247	0.27910	-0.9982	0.30423	T	0.013	0.05225	T	10	0.15621108	0.29424	T	0.013945	0.33715	T	0.063	0.18251	0.414	0.45216	0.665928966814	0.66311	0.36523178179586574	0.36437	0.69199338216	0.60632	0.572844624519	0.49080	T	0.003928	0.03343	T	-0.296977	0.08948	T	-0.556706	0.16688	T	0.265195250511169	0.23541	T	0.779122	0.41282	T	0.056002583	0.10961	0.04005893	0.04243	0.056002583	0.10961	0.04005893	0.04243	-4.85	0.35168	T	.	.	0.114	0.23848	B	.;.	.;.	2.735331	0.35810	20.0	0.9663663692811949	0.30538	0.69605	0.34254	D	AEFDGBCI	0.251321	0.37121	N	-0.345315913071757	0.27445	1.505803	-0.219156420777362	0.30848	1.740564	0.999999337124515	0.74766	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	4.35	4.35	0.51454	3.877000	0.55836	9.904000	0.82373	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.045000	0.14751	0.1086:0.0:0.8914:0.0	8.065	0.29816	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	.	.	.	.	.	.	.	.	0.07143	1137.46	38	chr19	7900696	.	G	A	1137.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.32;DP=266;ExcessHet=0;FS=3.041;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.04;ReadPosRankSum=2.31;SOR=1.144	GT:AD:DP:GQ:PL	0/1:37,44:81:99:1148,0,799	6	0	1	0
chr19	8112037	8112037	G	T	exonic	FBN3	.	nonsynonymous SNV	FBN3:NM_001321431:exon31:c.C3901A:p.P1301T,FBN3:NM_032447:exon31:c.C3901A:p.P1301T	.	417	1104	1	0	0	1	0.000452694	.	.	.	3250124	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.586	0.0918645538181	7.7e-05	.	0.0001	0	0	0	0	0.0003	0.0011	0	0.0001164	18	154602	rs150945472	8.007e-05	8.209e-05	6.945e-05	9.079e-05	0.0009	6.803e-05	6.357e-05	0.0003	0.0002	0	0	0.0032	0	0	0.0009	1.439e-05	0.0002	0	9.262e-05	9.203e-05	0.0001	6.78e-05	6.609e-05	5.564e-05	4.393e-05	.	.	0	0	6.609e-05	0.0035	0	0	0	1.474e-05	0	0	0.017	0.51248	D	0.111	0.37173	T	0.999	0.77913	D	0.947	0.68407	D	0.000000	0.84330	U	0.000000	1	0.81001	D	2.68	0.78455	M	-2.27	0.87433	D	-4.38	0.77143	D	0.476	0.55019	0.492	0.90437	D	0.763	0.91939	D	10	0.14969203	0.28326	T	0.091865	0.75787	D	0.586	0.83416	.	.	0.831045819502	0.82943	0.6142289406386615	0.61354	0.78146300038	0.65317	0.420418709517	0.27894	T	0.287586	0.66038	T	0.0757431	0.61540	D	-0.0653309	0.65958	T	0.646454036235809	0.38311	D	0.931907	0.74605	D	0.37448874	0.58914	0.35081902	0.60685	0.37448874	0.58915	0.35081902	0.60685	-11.687	0.83293	D	.	.	0.128	0.27373	B	.;.;.	.;.;.	3.558504	0.50059	22.9	0.99633552950773663	0.76203	0.98975	0.89414	D	AEFDBI	0.643813	0.62029	D	0.319582965624898	0.57154	3.881787	0.17997611955032	0.48750	3.086858	0.999999967074832	0.74766	0.706548	0.73137	0	0.547309	0.14657	0	0.724815	0.87919	0	0.542086	0.14980	0	.	.	4.34	4.34	0.51267	4.454000	0.59807	.	.	0.618000	0.50648	1.000000	0.71638	0.942000	0.28804	0.349000	0.25636	0.0:0.0:1.0:0.0	16.831	0.85809	929	0.16858	EGF-like calcium-binding domain|EGF-like calcium-binding, conserved site|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;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	.	.	.	.	.	.	.	.	0.07143	1408.44	37	chr19	8112037	.	G	T	1408.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.8;DP=325;ExcessHet=0;FS=1.462;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.84;ReadPosRankSum=-0.734;SOR=0.545	GT:AD:DP:GQ:PL	0/1:60,59:119:99:1419,0,2302	6	0	1	0
chr19	8510851	8510889	CCGCGGGGGCGTCGGGGCGCGGCGGCCCGGCCGCGGGGG	-	exonic	ZNF414	.	nonframeshift deletion	ZNF414:NM_001146175:exon7:c.1061_1099del:p.A354_A366del	.	419	1100	3	0	0	3	0.00136178	.	.	.	2815369	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0018	0	0	0	0.0022	0	0.0008	0.0001153	3	26028	rs768916342	0.0058	0.0044	0.0058	0.0058	0.0062	0.0057	0.0056	0.0061	0.0060	0.0010	0.0024	0.0004	0.0005	0.0101	0.0046	0.0062	0.0037	0.0020	0.0027	0.0026	0.0024	0.0029	0.0040	0.0024	0.0024	0.0036	0.0035	0.0008	0	0.0004	0	0.0002	0.0093	0	0.0040	0.0010	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1549.24	15	chr19	8510850	.	CCCGCGGGGGCGTCGGGGCGCGGCGGCCCGGCCGCGGGGG	C	1549.24	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.55;DP=142;ExcessHet=0;FS=3.189;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=31.62;ReadPosRankSum=1.91;SOR=1.387	GT:AD:DP:GQ:PL	0/1:10,39:49:99:1559,0,254	5	0	1	1
chr19	8886443	8886443	T	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon60:c.A41077G:p.R13693G	.	.	.	.	.	.	.	.	0.9988	0.972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.222	0.0320399113473	0.0004	0.000399361	0.0003	0.0001	0.0004	0	0	0.0004	0.0011	0	0.0002458	38	154602	rs145435147	0.0003	0.0003	0.0003	0.0003	0.0009	0.0003	0.0002	0.0003	0.0003	0.0002	0.0002	0	0	0	0.0009	0.0003	0.0005	0	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0001	0.0002	0.0002	7.221e-05	0	0.0003	0	0	0	0	0.0004	0.0005	0	0.023	0.48186	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	0.99865	0.22008	N	.	.	.	1.26	0.36330	T	-3.09	0.63438	D	0.325	0.36569	-0.4971	0.68754	T	0.206	0.56458	T	8	0.107492566	0.19969	T	0.03204	0.53969	D	0.222	0.51872	.	.	0.413241256734	0.40943	0.7939213442027925	0.79345	.	.	0.361507296562	0.19606	T	.	.	.	-0.267914	0.11991	T	-0.30065	0.44655	T	0.222223961069853	0.21574	T	0.890711	0.62461	D	.	.	.	.	.	.	.	.	-9.662	0.71863	D	.	.	0.739	0.74578	P	.	.	3.272970	0.44810	22.0	0.99019501322082493	0.50548	0.73913	0.36153	D	AEFBI	0.222737	0.34719	N	0.227961050313687	0.52558	3.429233	0.0711433524856053	0.43104	2.619225	1.09407089491039E-4	0.05123	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.76	2.76	0.31527	1.724000	0.37685	.	.	0.475000	0.22001	1.000000	0.71638	1.000000	0.68203	0.011000	0.09372	0.0:0.0:0.0:1.0	7.387	0.26062	952	0.10565	SEA domain|SEA domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002941	0.000000	0.000000	0.000000	0.000000	0.07143	949.45	34	chr19	8886443	.	T	C	949.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.433;DP=320;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.17;ReadPosRankSum=-0.675;SOR=0.802	GT:AD:DP:GQ:PL	0/1:39,39:78:99:960,0,1010	6	0	1	0
chr19	8888087	8888087	A	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon58:c.T40820C:p.I13607T	.	417	1041	64	0	0	64	0.0298229	0.0001	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	.	8.4e-05	.	1.843e-05	0.0002	0	0	0	0	0	0	6.5e-06	1	154602	rs375722672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.62	0.01834	T	1.51	0.00728	N	0.064	0.03613	-1.0221	0.23031	T	0.007	0.02244	T	7	0.046363264	0.03818	T	0.003776	0.08775	T	0.053	0.14996	.	.	0.0806252709748	0.07271	0.08113719990746966	0.08048	.	.	0.292725682259	0.09321	T	.	.	.	-0.410319	0.01978	T	-0.827171	0.01313	T	0.0205199335667818	0.00752	T	0.121488	0.00940	T	.	.	.	.	.	.	.	.	0.215	0.00281	T	.	.	0.092	0.13503	B	.	.	0.530896	0.08997	5.778	0.92029181334311316	0.21368	0.00015	0.00188	N	AEFBI	0.020964	0.00883	N	-0.812734170393172	0.12984	0.636566	-1.13990611673498	0.06950	0.3363392	1.26604863044529E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.949	-0.566	0.11178	-0.613000	0.05705	.	.	-0.251000	0.07141	0.002000	0.15269	0.000000	0.08366	0.069000	0.16583	0.5985:0.0:0.4015:0.0	4.301	0.10367	952	0.10565	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	103.78	58	chr19	8888087	.	A	G	103.78	.	AC=2;AF=0.25;AN=8;BaseQRankSum=3.6;DP=385;ExcessHet=0.4139;FS=2.471;MLEAC=3;MLEAF=0.375;MQ=59.6;MQRankSum=-4.855;QD=1.07;ReadPosRankSum=-0.055;SOR=1.171	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:59,5:64:32:0|1:8888087_A_G:32,0,2454:8888087	2	0	2	3
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	.	.	.	.	.	.	.	.	0.1429	459.25	294	chr19	8888803	.	G	A	459.25	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.498;DP=2563;ExcessHet=0.3476;FS=0.885;MLEAC=2;MLEAF=0.143;MQ=57.72;MQRankSum=-7.027;QD=0.48;ReadPosRankSum=0.471;SOR=0.554	GT:AD:DP:GQ:PL	0/1:379,47:426:99:215,0,14264	5	0	2	0
chr19	8899972	8899972	T	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon38:c.A39013G:p.T13005A	.	419	1095	8	0	0	8	0.00363967	0	0.03	.	3210996	MUC16-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.024	0.00749902169758	.	.	1.661e-05	0	0.0002	0	0	0	0	0	1.29e-05	2	154602	rs756739393	1.369e-06	1.368e-06	1.362e-06	1.376e-06	4.472e-05	2.3e-07	9e-08	7.41e-06	2.77e-06	0	4.472e-05	0	0	0	0	0	0	0	2.836e-05	0.0017	0	5.868e-05	2.66e-05	9.63e-06	5.47e-06	.	.	2.66e-05	0	0	0	0	0.0003	0	0	0	0	0.845	0.02774	T	0.136	0.34009	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	4.67	0.01735	T	1.1	0.01229	N	0.045	0.01740	-0.9255	0.44786	T	0.001	0.00467	T	7	0.021653622	0.00522	T	0.007499	0.19899	T	0.024	0.04979	0.153	0.05648	0.0138822411134	0.00435	0.07225205961657089	0.07162	.	.	0.242049396038	0.02977	T	.	.	.	-0.549186	0.00295	T	-0.829673	0.01268	T	0.0531765688373252	0.06049	T	0.169583	0.01587	T	.	.	.	.	.	.	.	.	-6.763	0.52283	T	.	.	0.059	0.00834	B	.	.	0.265119	0.06434	2.903	0.15376159983054832	0.00374	0.00009	0.00143	N	AEFBI	0.015378	0.00290	N	-2.18627876915683	0.00082	0.003520834	-2.16957185045865	0.00131	0.005755971	1.89267803303865E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.16	-2.32	0.06360	-0.073000	0.11428	.	.	-2.696000	0.00211	0.011000	0.18532	0.000000	0.08366	0.000000	0.00833	0.2938:0.4676:0.0:0.2386	2.013	0.03280	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.25	756.06	34	chr19	8899972	.	T	C	756.06	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-1.381;DP=962;ExcessHet=1.1394;FS=0;MLEAC=3;MLEAF=0.25;MQ=59;MQRankSum=-14.4;QD=1.13;ReadPosRankSum=2.57;SOR=0.722	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:182,18:200:99:0|1:8899972_T_C:208,0,7588:8899972	3	0	3	1
chr19	8899974	8899974	G	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon38:c.C39011T:p.T13004I	.	419	1095	8	0	0	8	0.00363967	0.0414	0.372	.	3214956	MUC16-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.045	0.00118460416831	.	.	2.492e-05	0	8.709e-05	0	0	3.003e-05	0	0	1.94e-05	3	154602	rs778952678	8.896e-06	8.893e-06	9.532e-06	8.253e-06	0.0002	4.96e-06	3.83e-06	4.55e-06	3.32e-06	0	0	0	0	0	0.0002	8.996e-06	1.657e-05	1.16e-05	2.122e-05	0.0017	0	4.395e-05	2.653e-05	5.64e-06	2.57e-06	.	.	2.653e-05	0	0	0	0	0.0002	0	0	0	0	0.011	0.55530	D	0.061	0.45530	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.43	0.02158	T	-2.06	0.47175	N	0.174	0.18649	-1.0313	0.20034	T	0.017	0.07187	T	8	0.12934974	0.24610	T	0.001185	0.01509	T	0.045	0.12272	.	.	0.128392430309	0.12331	0.11902561227878314	0.11829	.	.	0.318150579929	0.13140	T	.	.	.	-0.323778	0.06593	T	-0.57241	0.15230	T	0.219254165887833	0.21427	T	0.221278	0.02853	T	.	.	.	.	.	.	.	.	-7.441	0.57194	T	.	.	0.144	0.31608	B	.	.	1.710829	0.21783	15.35	0.21896655339985072	0.00856	0.01505	0.04982	N	AEFBI	0.034770	0.04364	N	-0.324931602343095	0.28204	1.553715	-0.621172338705613	0.18950	1.014588	1.81590448166244E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.16	1.16	0.19936	0.426000	0.21081	.	.	0.526000	0.24426	0.004000	0.16614	0.000000	0.08366	0.001000	0.02609	0.0:0.0:1.0:0.0	5.678	0.17030	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.25	735.06	34	chr19	8899974	.	G	A	735.06	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-1.011;DP=969;ExcessHet=1.1394;FS=0;MLEAC=3;MLEAF=0.25;MQ=59.01;MQRankSum=-14.4;QD=1.08;ReadPosRankSum=2.78;SOR=0.722	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:185,18:203:99:0|1:8899972_T_C:199,0,7714:8899972	3	0	3	1
chr19	8899979	8899979	G	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon38:c.C39006A:p.S13002R	.	420	1090	12	0	0	12	0.00547445	.	.	.	3192352	MUC16-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.047	0.00102388544923	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1337261124	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.848e-05	0.0019	0	5.902e-05	2.675e-05	9.65e-06	5.49e-06	.	.	2.675e-05	0	0	0	0	0.0003	0	0	0	0	0.005	0.63226	D	0.061	0.45530	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.6	0.01868	T	-1.27	0.31981	N	0.225	0.25253	-1.0136	0.25784	T	0.015	0.06282	T	8	0.15770155	0.29672	T	0.001024	0.01120	T	0.047	0.12962	0.143	0.04650	0.0920862733494	0.08535	0.15085560951934324	0.15007	.	.	0.265822708607	0.05603	T	.	.	.	-0.261119	0.12768	T	-0.612856	0.11755	T	0.168099865317345	0.18450	T	0.177782	0.01744	T	.	.	.	.	.	.	.	.	-7.626	0.58492	D	.	.	0.224	0.45544	B	.	.	0.282384	0.06594	3.083	0.44924595648877924	0.03489	0.01381	0.04703	N	AEFBI	0.028519	0.02526	N	-0.385439741200818	0.25987	1.414868	-0.673385610186316	0.17627	0.9381749	1.81590448166244E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.16	1.16	0.19936	-0.802000	0.04651	.	.	-0.928000	0.02159	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.0:1.0:0.0	5.678	0.17030	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.25	864.06	34	chr19	8899979	.	G	T	864.06	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-1.412;DP=989;ExcessHet=1.1394;FS=0;MLEAC=3;MLEAF=0.25;MQ=59.02;MQRankSum=-14.51;QD=1.24;ReadPosRankSum=3.03;SOR=0.641	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:192,19:211:99:0|1:8899972_T_C:220,0,8005:8899972	3	0	3	1
chr19	8900001	8900001	C	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon38:c.G38984A:p.G12995E	.	417	1065	39	1	0	41	0.0188853	.	.	.	3221801	MUC16-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.054	0.00120842336054	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796151917	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.886e-05	0.0031	1.417e-05	0.0001	0.0002	2.927e-05	2.125e-05	3.799e-05	2.25e-05	0.0001	0	0	0	0	0.0004	0	0	0	0.0002	0.091	0.31834	T	0.064	0.44905	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.58	0.01901	T	-0.88	0.23808	N	0.103	0.08646	-0.9217	0.45320	T	0.007	0.02282	T	8	0.11394003	0.21421	T	0.001208	0.01583	T	0.054	0.15330	0.142	0.04556	0.101711395817	0.09552	0.1462809682678735	0.14550	.	.	0.19396597147	0.00303	T	.	.	.	-0.32769	0.06288	T	-0.708481	0.05374	T	0.163903206586838	0.18155	T	0.165083	0.01523	T	.	.	.	.	.	.	.	.	-6.443	0.49844	T	.	.	0.084	0.09868	B	.	.	-0.242325	0.02882	0.411	0.27013934638062309	0.01321	0.00389	0.01958	N	AEFBI	0.035362	0.04537	N	-0.780672500721295	0.13814	0.6832987	-1.02483553794802	0.09240	0.4585958	8.79614165805569E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.16	0.00923	0.13400	-2.573000	0.00987	.	.	-0.349000	0.05595	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5692:0.4308:0.0:0.0	3.969	0.08937	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.1667	995.84	169	chr19	8900001	.	C	T	995.84	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.274;DP=1264;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.167;MQ=59.05;MQRankSum=-14.61;QD=1.98;ReadPosRankSum=1.94;SOR=0.642	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:202,21:223:99:0|1:8900000_C_T:274,0,8419:8900000	4	0	2	1
chr19	8900017	8900017	C	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon38:c.G38968C:p.D12990H	.	419	985	117	1	0	119	0.0569651	.	.	.	3206446	MUC16-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.059	0.000862686160426	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796074138	0	8.209e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	5.687e-05	0.0074	4.13e-05	7.351e-05	7.994e-05	2.742e-05	2.063e-05	2.119e-05	1.087e-05	7.994e-05	0	0	0	0	0.0003	0	3.068e-05	0	0	0.039	0.42487	D	0.066	0.44501	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.62	0.01834	T	0.49	0.02993	N	0.092	0.07125	-0.9370	0.43088	T	0.005	0.01506	T	8	0.0807575	0.13143	T	8.63E-4	0.00755	T	0.059	0.16972	0.123	0.02942	0.0401082797425	0.02173	0.1591635644427814	0.15837	.	.	0.225260436535	0.01636	T	.	.	.	-0.333606	0.05843	T	-0.716979	0.04943	T	0.120735882775226	0.14502	T	0.155884	0.01367	T	.	.	.	.	.	.	.	.	-5.876	0.45230	T	.	.	0.121	0.25199	B	.	.	-0.654509	0.01430	0.085	0.20142462625377641	0.00711	0.00266	0.01451	N	AEFBI	0.033829	0.04085	N	-1.20853826975404	0.04874	0.2209404	-1.39093098480509	0.03348	0.1559778	2.77626904626202E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.16	-2.32	0.06360	-4.258000	0.00301	.	.	-2.147000	0.00375	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3314:0.4146:0.254:0.0	2.997	0.05636	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.3333	1284.24	171	chr19	8900017	.	C	G	1284.24	.	AC=4;AF=0.333;AN=12;BaseQRankSum=0.145;DP=1182;ExcessHet=2.5225;FS=0.89;MLEAC=4;MLEAF=0.333;MQ=58.94;MQRankSum=-11.81;QD=1.59;ReadPosRankSum=1.3;SOR=0.856	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:212,23:235:99:0|1:8900000_C_T:328,0,8833:8900000	2	0	4	1
chr19	8908637	8908637	C	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon23:c.G37574C:p.G12525A	.	425	921	175	1	0	177	0.0876672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.00100971464853	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796118737	0	1.984e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.704e-06	0.0012	0	1.379e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.069	0.35537	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.5	0.02032	T	-1.0	0.26422	N	0.149	0.15187	-1.0489	0.14705	T	0.019	0.07893	T	8	0.14229593	0.27028	T	0.00101	0.01096	T	0.092	0.26621	0.068	0.00352	0.0920862733494	0.08535	0.09297556608109382	0.09229	.	.	0.207300364971	0.00702	T	.	.	.	-0.324618	0.06526	T	-0.704068	0.05606	T	0.128357648849487	0.15229	T	0.250075	0.03765	T	.	.	.	.	.	.	.	.	-9.338	0.69846	D	.	.	0.128	0.27222	B	.	.	0.716944	0.10859	7.536	0.51191884600897364	0.04518	0.02560	0.07095	N	AEFBI	0.024210	0.01462	N	-0.258816728321443	0.30752	1.717725	-0.553394696242798	0.20716	1.117387	2.41537016268443E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	1.42	0.21524	-0.166000	0.09943	.	.	0.321000	0.19380	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.0:1.0:0.0:0.0	6.239	0.19989	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	770.05	105	chr19	8908637	.	C	G	770.05	.	AC=3;AF=0.25;AN=12;BaseQRankSum=1.11;DP=887;ExcessHet=1.1394;FS=9.879;MLEAC=3;MLEAF=0.25;MQ=58.57;MQRankSum=-9.237;QD=1.74;ReadPosRankSum=-0.167;SOR=1.813	GT:AD:DP:GQ:PL	0/1:154,19:173:99:334,0,6338	3	0	3	1
chr19	8908644	8908644	C	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon23:c.G37567C:p.D12523H	.	422	906	191	3	0	197	0.0980587	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00120507919294	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796881038	6.844e-07	2.805e-05	0	1.376e-06	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	6.682e-06	0.0013	0	1.372e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.555	0.06482	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.53	0.01980	T	-0.67	0.19297	N	0.127	0.12055	-0.9652	0.38171	T	0.005	0.01833	T	8	0.059954166	0.07290	T	0.001205	0.01558	T	0.015	0.02232	.	.	0.0401082797425	0.02173	0.17377359918076668	0.17297	.	.	0.218874275684	0.01246	T	.	.	.	-0.367293	0.03734	T	-0.765368	0.02923	T	0.0819785980810491	0.10239	T	0.169583	0.01587	T	.	.	.	.	.	.	.	.	-8.635	0.65320	D	.	.	0.155	0.34383	B	.	.	-0.155485	0.03325	0.581	0.2311562001233356	0.00962	0.00236	0.01316	N	AEFBI	0.021935	0.01036	N	-1.22951270346983	0.04577	0.2068566	-1.43744946049098	0.02886	0.1335886	3.83668398290725E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.84	0.05408	-3.238000	0.00603	.	.	0.321000	0.19380	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.4784:0.3304:0.0:0.1912	2.526	0.04405	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	698.05	105	chr19	8908644	.	C	G	698.05	.	AC=3;AF=0.25;AN=12;BaseQRankSum=0.997;DP=901;ExcessHet=1.1394;FS=12.178;MLEAC=3;MLEAF=0.25;MQ=58.31;MQRankSum=-9.345;QD=1.61;ReadPosRankSum=0.298;SOR=1.909	GT:AD:DP:GQ:PL	0/1:148,16:164:99:226,0,6126	3	0	3	1
chr19	8916542	8916542	G	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon13:c.C36668T:p.T12223M	.	427	1094	1	0	0	1	0.00045683	0.0034	0.204	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.00148456705871	.	.	2.592e-05	0	0	0	0	4.643e-05	0	0	3.88e-05	6	154602	rs753411626	3.559e-05	3.557e-05	3.541e-05	3.577e-05	4.498e-05	2.764e-05	2.502e-05	3.46e-05	3.122e-05	0	0	0	0	0	0	4.498e-05	0	2.321e-05	3.942e-05	3.94e-05	3.854e-05	4.034e-05	7.349e-05	1.715e-05	1.129e-05	2.846e-05	1.858e-05	2.412e-05	0	0	0	0	0	0	7.349e-05	0	0	0.001	0.78490	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.19	0.02716	T	-1.08	0.28084	N	0.2	0.22098	-0.9931	0.31801	T	0.010	0.03582	T	8	0.12389189	0.23525	T	0.001485	0.02267	T	0.064	0.18567	0.143	0.04650	0.238096912614	0.23440	0.29077744457688814	0.28990	.	.	0.260281860828	0.04924	T	.	.	.	-0.35377	0.04494	T	-0.645312	0.09286	T	0.139206132044484	0.16206	T	0.330567	0.06924	T	.	.	.	.	.	.	.	.	-6.75	0.52186	T	.	.	0.094	0.14614	B	.	.	1.317889	0.17215	13.03	0.78525978977128186	0.12339	0.01323	0.04570	N	AEFBI	0.030636	0.03124	N	-0.583606879451416	0.19443	1.017617	-0.809166602034911	0.14274	0.7449762	8.92915016831179E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	1.39	0.277	0.14921	0.119000	0.15456	.	.	0.526000	0.24426	0.007000	0.17678	0.000000	0.08366	0.010000	0.09038	0.2637:0.0:0.7363:0.0	3.687	0.07866	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1441.44	39	chr19	8916542	.	G	A	1441.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.73;DP=308;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=0.945;SOR=0.691	GT:AD:DP:GQ:PL	0/1:57,61:118:99:1452,0,1273	6	0	1	0
chr19	10284465	10284465	G	A	exonic	ICAM1	.	nonsynonymous SNV	ICAM1:NM_000201:exon5:c.G988A:p.V330M	.	0	1508	13	1	0	15	0.00494886	.	.	.	727843	ICAM1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.078	0.00794922490352	0.0016	0.00159744	0.0021	0	0.0012	0	0.0003	0.0023	0.0045	0.0050	0.0018758	290	154602	rs146134321	0.0015	0.0015	0.0014	0.0017	0.0055	0.0015	0.0014	0.0040	0.0038	0.0002	0.0010	0.0036	0	0.0002	0.0055	0.0014	0.0017	0.0043	0.0013	0.0013	0.0013	0.0013	0.0043	0.0011	0.0011	0.0029	0.0024	0.0002	0	0.0008	0.0046	0.0002	0.0002	0.0034	0.0019	0.0028	0.0043	0.001	0.78490	D	0.002	0.79402	D	0.987	0.73220	D	0.913	0.64886	D	0.033892	0.24840	N	0.192276	0.999989	0.18198	N	2.145	0.60081	M	2.78	0.11298	T	-2.69	0.58733	D	0.344	0.38541	-1.1178	0.02476	T	0.059	0.24760	T	10	0.006626159	0.00150	T	0.007949	0.21084	T	0.078	0.22779	.	.	0.608747212676	0.60560	0.39170349706882157	0.39085	0.652655157273	0.58445	0.453022837639	0.32357	T	0.148967	0.48776	T	-0.472956	0.00815	T	-0.451467	0.27535	T	0.0384687512636429	0.03416	T	0.775622	0.40735	T	0.4935675	0.66715	0.3004436	0.56078	0.4935675	0.66716	0.3004436	0.56077	-7.803	0.59720	D	.	.	0.275	0.51165	B	.;.	.;.	2.936750	0.39031	20.9	0.99699861672834467	0.80522	0.42960	0.26993	N	AEFDBCI	0.137429	0.25841	N	-0.000210577087281644	0.41845	2.510376	-0.21386782100428	0.31037	1.752842	0.266614902363048	0.18848	0.722319	0.85440	0	0.698795	0.70079	0	0.709663	0.75317	0	0.645665	0.59343	0	.	.	4.1	1.76	0.23776	1.339000	0.33489	4.162000	0.42217	0.676000	0.76740	0.820000	0.29989	1.000000	0.68203	0.003000	0.05239	0.1171:0.2129:0.6701:0.0	5.135	0.14262	592	0.68746	Immunoglobulin subtype;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.007049	0.000000	0.005435	0.005848	0.000000	0.008621	0.012195	0.007576	0.07143	1255.53	34	chr19	10284465	.	G	A	1255.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.857;DP=268;ExcessHet=0;FS=1.751;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.6;ReadPosRankSum=-1.037;SOR=0.51	GT:AD:DP:GQ:PL	0/1:39,47:86:99:1266,0,970	6	0	1	0
chr19	10798534	10798534	A	G	exonic	DNM2	.	nonsynonymous SNV	DNM2:NM_001005360:exon11:c.A1384G:p.T462A,DNM2:NM_001005361:exon11:c.A1384G:p.T462A,DNM2:NM_001005362:exon11:c.A1384G:p.T462A,DNM2:NM_001190716:exon11:c.A1384G:p.T462A,DNM2:NM_004945:exon11:c.A1384G:p.T462A	Charcot-Marie-Tooth disease, axonal, type 2M, Autosomal dominant;Charcot-Marie-Tooth disease, dominant intermediate B, Autosomal dominant;Lethal congenital contracture syndrome 5, Autosomal recessive;Myopathy, centronuclear, Autosomal dominant	0	1519	3	0	0	3	0.000986518	.	.	.	332403	not_specified|Inborn_genetic_diseases|not_provided|Autosomal_dominant_centronuclear_myopathy|Charcot-Marie-Tooth_disease_dominant_intermediate_B	MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0008048,MeSH:D020914,MedGen:C4551952,OMIM:160150,Orphanet:169189|MONDO:MONDO:0011674,MedGen:C1847902,OMIM:606482,Orphanet:100044,Orphanet:228179	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.332	0.0278324785597	.	.	0.0002	0	0.0002	0	0	0.0003	0.0011	0.0003	0.0001811	28	154602	rs201575500	0.0001	0.0001	0.0001	0.0002	0.0007	0.0001	0.0001	0.0003	0.0002	2.987e-05	0.0002	0	0	1.872e-05	0.0007	0.0001	0.0002	0.0004	0.0002	0.0002	0.0001	0.0002	0.0015	0.0001	8.731e-05	0.0007	0.0005	4.828e-05	0	0.0001	0	0	0	0	0.0001	0.0014	0.0015	0.091	0.31834	T	0.511	0.45744	T	0.088	0.29746	B	0.053	0.30479	B	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.905	0.50856	L	-0.67	0.72458	T	-3.21	0.65171	D	0.684	0.71854	-0.4678	0.69802	T	0.326	0.69436	T	10	0.220121	0.38700	T	0.027832	0.50591	D	0.332	0.65424	.	.	0.720179766801	0.71771	0.7513524050960209	0.75082	1.05575638004	0.76310	0.7073315382	0.68206	T	0.864422	0.97018	D	-0.187171	0.22674	T	-0.163904	0.57999	T	0.0835379511117935	0.10434	T	0.80242	0.45852	T	0.32516393	0.55072	0.3169438	0.57672	0.32516393	0.55072	0.3169438	0.57671	-5.435	0.41312	T	0.252206737828765	0.34123	0.105	0.26388	B	.;.;.;.;.;.	.;.;.;.;.;.	4.256948	0.64661	24.7	0.99186156143668269	0.54848	0.98715	0.85931	D	AEFDBI	0.704794	0.66040	D	0.153020506166584	0.48955	3.101461	0.230976828269892	0.51573	3.338789	0.999998370353162	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.57	4.57	0.55860	4.957000	0.63358	7.773000	0.68509	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	1.0:0.0:0.0:0.0	12.934	0.57701	415	0.81806	.;.;.;Dynamin central domain;.;Dynamin central domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	612.49	33	chr19	10798534	.	A	G	612.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.658;DP=259;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.12;ReadPosRankSum=0.545;SOR=0.689	GT:AD:DP:GQ:PL	0/1:54,32:86:99:623,0,1249	6	0	1	0
chr19	10924001	10924001	T	G	splicing	YIPF2	NM_001321440:exon6:c.368-2A>C;NM_024029:exon7:c.485-2A>C;NM_001321439:exon7:c.485-2A>C	.	.	.	410	1092	14	0	6	20	0.00636943	1.0000	0.94	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.683e-06	0	0	0	0	1.742e-05	0	0	3.84e-05	1	26028	rs773085387	1.584e-05	1.574e-05	1.507e-05	1.662e-05	3.008e-05	1.055e-05	8.81e-06	1.22e-05	1.035e-05	3.008e-05	0	0	0	0	0	1.898e-05	1.669e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248212	0.78434	D	0.215617	0.83954	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.	.;.;.;.;.	5.962011	0.94195	33	0.99542106868602143	0.70586	0.99562	0.97468	D	AEFDBHCI	.	.	.	1.08663251972857	0.97879	16.94849	0.931893125280723	0.96818	15.18811	0.999999993294081	0.74766	0.160901	0.03495	0	0.158463	0.03841	0	0.17184	0.04098	0	0.087121	0.02386	0	0.960166	0.65381	5.47	5.47	0.80345	6.083000	0.70975	6.121000	0.53786	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.890000	0.42831	0.0:0.0:0.0:1.0	14.521	0.67436	511	0.75131	.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.07143	918.44	35	chr19	10924001	.	T	G	918.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.866;DP=303;ExcessHet=0;FS=0.759;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.47;ReadPosRankSum=0.519;SOR=0.606	GT:AD:DP:GQ:PL	0/1:56,41:97:99:929,0,1468	6	0	1	0
chr19	11806099	11806099	A	G	exonic	ZNF491	.	nonsynonymous SNV	ZNF491:NM_152356:exon3:c.A146G:p.Y49C	.	435	1084	3	0	0	3	0.00138185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.000584744274917	0.0055	0.000599042	0.0035	0.0009	0.0016	0	0.0008	0.0057	0.0022	0.0005	0.0037774	584	154602	rs141870350	0.0063	0.0063	0.0065	0.0061	0.0077	0.0062	0.0061	0.0076	0.0075	0.0011	0.0024	0.0034	0	0.0010	0.0009	0.0077	0.0045	0.0003	0.0041	0.0041	0.0043	0.0039	0.0073	0.0038	0.0037	0.0068	0.0066	0.0015	0	0.0022	0.0040	0	0.0008	0.0136	0.0073	0.0028	0.0002	0.04	0.43393	D	0.103	0.43531	T	0.227	0.30477	B	0.024	0.20255	B	.	.	.	.	1	0.08975	N	1.255	0.31814	L	2.44	0.15145	T	-2.92	0.67477	D	0.034	0.00942	-0.9964	0.30919	T	0.014	0.05561	T	9	0.0074469745	0.00169	T	5.85E-4	0.00246	T	0.016	0.02506	.	.	0.0401082797425	0.02173	0.03103441703754587	0.03052	0.0239022768499	0.02427	0.261366128922	0.05055	T	0.044423	0.26811	T	-0.593999	0.00159	T	-0.618624	0.11294	T	0.00730887890083648	0.00084	T	0.00711929	0.00473	T	0.12150264	0.28569	0.13338014	0.31985	0.12150264	0.28569	0.13338014	0.31984	-3.02	0.10398	T	.	.	0.089	0.20352	B	.;.	.;.	1.642717	0.20964	14.99	0.96559248114933161	0.30254	0.00060	0.00440	N	AEFBCI	0.023335	0.01285	N	-1.08432639914225	0.06931	0.3205058	-1.18221697142114	0.06206	0.2980287	2.57460452315626E-5	0.03498	0.553676	0.25195	0	0.588066	0.40923	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	1.01	1.01	0.19044	-1.657000	0.02081	.	.	0.663000	0.56723	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	1.0:0.0:0.0:0.0	5.928	0.18363	934	0.15400	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	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	865.49	34	chr19	11806099	.	A	G	865.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.46;DP=253;ExcessHet=0;FS=0.877;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.86;ReadPosRankSum=0.593;SOR=0.584	GT:AD:DP:GQ:PL	0/1:40,33:73:99:876,0,962	6	0	1	0
chr19	12076186	12076186	A	G	exonic	ZNF844	.	nonsynonymous SNV	ZNF844:NM_001136501:exon4:c.A1066G:p.K356E	.	419	1088	14	1	0	16	0.00729927	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	.	0.0042	0.00359425	0.0066	0.0029	0.0041	0	0.0014	0.0065	0.0023	0.0115	0.0032729	506	154602	rs61998199	0.0053	0.0053	0.0053	0.0054	0.0098	0.0052	0.0052	0.0093	0.0090	0.0008	0.0021	0.0013	0	0.0007	0.0021	0.0058	0.0047	0.0098	0.0034	0.0034	0.0035	0.0034	0.0064	0.0032	0.0031	0.0050	0.0048	0.0011	0	0.0041	0	0	0.0006	0.0068	0.0055	0.0028	0.0064	0.016	0.51853	D	0.026	0.55759	D	0.298	0.32505	B	0.144	0.33818	B	.	.	.	.	1	0.18612	N	1.29	0.32370	L	3.29	0.06445	T	-1.82	0.42763	N	0.066	0.03841	-0.9958	0.31082	T	0.012	0.04795	T	9	0.005078733	0.00110	T	.	.	.	0.018	0.03083	.	.	0.0297737177859	0.01360	0.019703609881135866	0.01923	0.0140823179326	0.01340	0.225910156965	0.01680	T	0.006	0.05051	T	-0.67362	0.00052	T	-0.733846	0.04155	T	0.00836196739726162	0.00101	T	0.0134986	0.00072	T	0.10117602	0.23896	0.08319262	0.19046	0.10117602	0.23896	0.08319262	0.19046	-6.089	0.47018	T	.	.	0.408	0.60019	A	.	.	1.141019	0.15283	11.73	0.99585638236336271	0.73277	0.00001	0.00044	N	AEDBCI	.	.	.	-0.669499871888202	0.16895	0.864769	-0.749832738805937	0.15726	0.8285321	0.00901801513552424	0.11781	0.562547	0.31514	0	0.653731	0.59785	0	0.575934	0.27490	0	0.714379	0.83352	0	.	.	2.5	2.5	0.29355	-1.680000	0.02040	.	.	0.497000	0.22564	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.7554:0.2446:0.0:0.0	6.624	0.22014	934	0.15400	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	0.002520	0.000000	0.001362	0.002924	0.000000	0.000000	0.009146	0.000000	0.07143	1716.53	61	chr19	12076186	.	A	G	1716.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.704;DP=413;ExcessHet=0;FS=1.41;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.73;ReadPosRankSum=1.69;SOR=0.829	GT:AD:DP:GQ:PL	0/1:57,68:125:99:1727,0,1367	6	0	1	0
chr19	12430730	12430730	A	0	exonic	ZNF443	.	.	.	.	412	412	423	155	120	853	0.470777	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	16760.0	112	chr19	12430730	.	A	*	16760.0	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.637;DP=772;ExcessHet=2.5225;FS=1.132;MLEAC=1;MLEAF=0.071;MQ=58.15;MQRankSum=-4.01;QD=22.08;ReadPosRankSum=0.606;SOR=0.582	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:76,44:120:99:0|1:12430718_C_A:1619,0,3039:12430718	6	0	1	0
chr19	12769900	12769900	A	C	exonic	HOOK2	.	nonsynonymous SNV	HOOK2:NM_001100176:exon11:c.T1085G:p.L362R,HOOK2:NM_013312:exon11:c.T1085G:p.L362R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.524	0.0845558581854	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.04	0.59732	D	1.0	0.90584	D	0.993	0.81110	D	0.000002	0.62929	D	0.000000	0.999866	0.50061	D	2.805	0.81760	M	1.84	0.24656	T	-5.61	0.86686	D	0.799	0.79503	-0.6786	0.61437	T	0.187	0.53661	T	10	0.8498167	0.84156	D	0.084556	0.74351	D	0.524	0.79825	0.523	0.62668	0.560416893347	0.55703	0.695273282460745	0.69468	1.08627709784	0.77293	0.891611874104	0.95459	D	0.151248	0.49110	T	0.143822	0.68686	D	-0.0311868	0.68289	D	0.998758554458618	0.95068	D	0.876112	0.60074	D	0.9242409	0.93663	0.86253273	0.92352	0.9242409	0.93664	0.86253273	0.92353	-12.623	0.87818	D	.	.	0.311	0.53868	B	.;.	.;.	4.153362	0.62320	24.4	0.99578321286165139	0.72861	0.95132	0.63555	D	ALL	0.933615	0.92576	D	0.687295168891456	0.78799	6.945072	0.594887635531887	0.74573	6.159906	1.0	0.98316	0.789315	0.99827	0	0.748881	0.99253	0	0.768056	0.98339	0	0.655142	0.61905	0	.	.	5.01	5.01	0.66477	6.666000	0.74289	.	.	0.733000	0.85838	1.000000	0.71638	1.000000	0.68203	0.049000	0.15107	1.0:0.0:0.0:0.0	13.686	0.61994	620	0.66037	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	312.63	20	chr19	12769900	.	A	C	312.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.418;DP=180;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.2;ReadPosRankSum=-0.59;SOR=0.765	GT:AD:DP:GQ:PL	0/1:19,15:34:99:323,0,504	6	0	1	0
chr19	13099721	13099721	C	G	exonic	LYL1	.	nonsynonymous SNV	LYL1:NM_005583:exon4:c.G441C:p.Q147H	Leukemia, T-cell acute lymphoblastoid	9	1512	1	0	0	1	0.000330579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.210	0.118488381831	.	.	.	.	.	.	.	.	.	.	.	.	.	rs944101652	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.32141	T	0.039	0.51112	D	0.025	0.19245	B	0.01	0.14941	B	0.023637	0.26406	N	0.253070	0.536181	0.32016	D	2.34	0.67151	M	-4.54	0.97732	D	0.88	0.01664	N	0.112	0.09914	0.390	0.88942	D	0.790	0.92892	D	10	0.12653652	0.24056	T	0.118488	0.79854	D	0.210	0.50028	0.276	0.22845	0.545958439758	0.54250	0.7262853077962536	0.72572	1.23181786945	0.81364	0.647577702999	0.59642	T	0.15932	0.50271	T	0.0654076	0.60284	T	-0.143823	0.59785	T	0.520309746265411	0.33377	D	0.666633	0.27564	T	0.09867579	0.23278	0.086344466	0.19998	0.09867579	0.23278	0.086344466	0.19997	-10.03	0.74091	D	.	.	0.338	0.55760	B	.	.	3.320941	0.45673	22.2	0.98236443771004167	0.39440	0.66946	0.33256	D	ALL	0.607964	0.59772	D	-0.510063115723125	0.21754	1.156781	-0.4088295621469	0.24738	1.356349	0.999999999999999	0.74766	0.56387	0.32371	0	0.484254	0.07192	0	0.503968	0.08637	0	0.56214	0.19341	0	.	.	3.98	1.69	0.23290	0.363000	0.20037	0.802000	0.21668	0.529000	0.24592	0.990000	0.36992	0.999000	0.35428	0.997000	0.79791	0.0:0.7376:0.1655:0.0969	7.683	0.27690	798	0.45050	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	204.64	22	chr19	13099721	.	C	G	204.64	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.887;DP=128;ExcessHet=0;FS=1.808;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.74;ReadPosRankSum=-0.392;SOR=1.162	GT:AD:DP:GQ:PL	0/1:12,9:21:99:215,0,388	6	0	1	0
chr19	16750377	16750377	G	A	exonic	NWD1	.	nonsynonymous SNV	NWD1:NM_001347994:exon5:c.G1117A:p.V373M,NWD1:NM_001007525:exon6:c.G1735A:p.V579M,NWD1:NM_001290355:exon7:c.G1330A:p.V444M	.	435	1086	1	0	0	1	0.000460193	.	.	.	2254583	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.461	0.0519551754757	0.0002	.	0.0002	0.0001	0	0	0	0.0003	0	7.39e-05	0.0001488	23	154602	rs138297508	0.0003	0.0003	0.0002	0.0003	0.0004	0.0002	0.0002	0.0003	0.0003	0	0	3.941e-05	0	1.932e-05	0.0004	0.0003	0.0001	5.854e-05	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	0.0001	0.0002	0.0002	4.827e-05	0	6.554e-05	0	0	0	0	0.0003	0	0	0.007	0.61437	D	0.0	0.92824	D	1.0	0.90584	D	0.984	0.76113	D	0.000182	0.48115	D	0.135577	0.99973	0.48635	D	3.255	0.89877	M	-0.47	0.70133	T	-2.6	0.55983	D	0.599	0.70263	0.247	0.86696	D	0.569	0.84381	D	10	0.707778	0.72848	D	0.051955	0.64874	D	0.461	0.75822	.	.	0.323342291347	0.31936	0.6071666446376018	0.60648	0.498122856725	0.48292	0.573471486568	0.49167	T	0.123865	0.44851	T	-0.175276	0.24442	T	-0.190611	0.55533	T	0.628655672073364	0.37562	D	0.852015	0.53695	D	0.23793906	0.46664	0.2158236	0.46186	0.23793906	0.46664	0.2158236	0.46186	-9.787	0.73323	D	.	.	0.366	0.57573	A	.;.;.;.	.;.;.;.	3.845088	0.55667	23.6	0.99894488445924345	0.96742	0.95875	0.66529	D	AEFBI	0.651249	0.62507	D	0.640950920252777	0.75784	6.367592	0.537267685121865	0.70515	5.516795	0.994890749930552	0.33851	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.04	5.04	0.67293	6.025000	0.70513	7.327000	0.58188	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.005000	0.06747	0.0:0.0:1.0:0.0	15.845	0.78658	906	0.23090	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	366.27	22	chr19	16750377	.	G	A	366.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.01;DP=151;ExcessHet=0;FS=3.166;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.1;ReadPosRankSum=1.18;SOR=1.473	GT:AD:DP:GQ:PL	0/1:18,15:33:99:376,0,377	5	0	1	1
chr19	17011478	17011478	G	A	exonic	CPAMD8	.	nonsynonymous SNV	CPAMD8:NM_015692:exon5:c.C472T:p.P158S	Anterior segement dysgenesis 8, Autosomal recessive	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.642	0.0475784091044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	1.361e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.013	0.63109	D	.	.	.	.	.	.	0.000010	0.62929	U	0.000000	0.989175	0.47118	D	.	.	.	-0.92	0.75108	T	-5.9	0.88839	D	0.775	0.77978	0.266	0.87007	D	0.599	0.85718	D	10	0.9800769	0.97961	D	0.047578	0.62984	D	0.642	0.86384	0.881	0.96884	0.676562671139	0.67381	.	.	0.628153340032	0.56890	0.464317500591	0.33902	T	0.212761	0.57389	T	0.122542	0.66627	D	-0.0617528	0.66209	T	0.994639575481415	0.86044	D	0.836816	0.50885	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	4.072144	0.60509	24.2	0.99856989166115095	0.93548	0.98349	0.81881	D	AEFDGBI	0.825057	0.74482	D	0.556012304988113	0.70448	5.503106	0.391375583351171	0.61033	4.297864	0.96041002947057	0.28487	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.16	3.16	0.35406	6.806000	0.74984	6.970000	0.57087	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.509000	0.29221	0.0:0.0:1.0:0.0	13.270	0.59587	970	0.06235	.;Alpha-2-macroglobulin, 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	.	.	.	.	.	.	.	.	0.07143	565.63	31	chr19	17011478	.	G	A	565.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.013;DP=193;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.86;ReadPosRankSum=0.928;SOR=0.906	GT:AD:DP:GQ:PL	0/1:22,22:44:99:576,0,595	6	0	1	0
chr19	17205292	17205292	G	A	exonic	MYO9B	.	nonsynonymous SNV	MYO9B:NM_001130065:exon31:c.G5020A:p.V1674M,MYO9B:NM_004145:exon31:c.G5020A:p.V1674M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.00702578762517	8e-05	0.000199681	0.0002	0	0	0	0	0.0003	0	6.059e-05	0.0001682	26	154602	rs201018459	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	0.0001	0.0002	0.0001	0	2.236e-05	0	2.519e-05	0	0	0.0002	0.0002	5.797e-05	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	9.233e-05	0.0002	0.0002	4.813e-05	0	6.538e-05	0	0	0	0	0.0003	0	0	0.263	0.16412	T	0.225	0.25514	T	.	.	.	.	.	.	0.070649	0.21525	N	0.387331	0.915528	0.27412	N	0.11	0.08516	N	2.54	0.13916	T	-0.41	0.14000	N	0.256	0.28965	-1.0218	0.23129	T	0.018	0.07706	T	10	0.037937313	0.02179	T	0.007026	0.18621	T	0.012	0.01476	.	.	0.2338531098	0.23012	0.7084601083290163	0.70788	0.338732872668	0.35836	0.508960664272	0.40076	T	0.01543	0.12947	T	-0.479773	0.00741	T	-0.612679	0.11769	T	0.0311816677894084	0.02175	T	0.911209	0.68535	D	.	.	.	.	.	.	.	.	-3.812	0.20984	T	.	.	0.097	0.15654	B	.;.;.;.	.;.;.;.	1.787023	0.22719	15.73	0.92932026627775799	0.22497	0.39522	0.26231	N	AEFDGBHCI	0.086732	0.17585	N	-0.55756890558879	0.20246	1.065947	-0.474956457356145	0.22847	1.242941	0.963452712885954	0.28692	0.712529	0.81865	0	0.697927	0.68747	0	0.779548	0.98927	0	0.691587	0.68394	0	.	.	4.38	2.23	0.27189	0.391000	0.20511	2.395000	0.32561	0.658000	0.54486	0.080000	0.22340	0.994000	0.32194	0.989000	0.64315	0.3085:0.0:0.5121:0.1794	3.427	0.06984	923	0.18507	.;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|Protein kinase C-like, phorbol ester/diacylglycerol-binding domain|Protein kinase C-like, phorbol ester/diacylglycerol-binding domain|Protein kinase C-like, phorbol ester/diacylglycerol-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	669.44	33	chr19	17205292	.	G	A	669.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.6;DP=265;ExcessHet=0;FS=3.272;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.05;ReadPosRankSum=-0.554;SOR=1.149	GT:AD:DP:GQ:PL	0/1:45,29:74:99:680,0,1065	6	0	1	0
chr19	17212276	17212276	G	T	exonic	MYO9B	.	nonsynonymous SNV	MYO9B:NM_004145:exon40:c.G6440T:p.C2147F	.	427	1093	2	0	0	2	0.000914077	.	.	.	756808	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.030	0.110605621021	0.0007	.	0.0009	0	0.0016	0	0	0.0014	0	0.0002	0.0002846	44	154602	rs201009683	0.0003	0.0004	0.0004	0.0003	0.0018	0.0003	0.0003	0.0010	0.0007	0.0002	0.0006	0.0016	0	0	0.0018	0.0003	0.0005	0.0001	0.0005	0.0005	0.0004	0.0006	0.0021	0.0004	0.0004	0.0015	0.0013	4.811e-05	0	0.0021	0.0020	0	0	0.0034	0.0004	0.0009	0.0002	.	.	.	0.102	0.38450	T	.	.	.	.	.	.	0.202366	0.16567	N	0.511841	0.999884	0.50402	D	.	.	.	-2.05	0.85799	D	.	.	.	0.398	0.43899	-0.9210	0.45417	T	0.110	0.39699	T	9	0.031621575	0.01299	T	0.110606	0.78806	D	.	.	.	.	0.267718591433	0.26370	.	.	.	.	0.518901228905	0.41472	T	0.024605	0.18561	T	-0.218814	0.18155	T	-0.209356	0.53757	T	0.0492037875694996	0.05359	T	0.754824	0.37774	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.11797	B	.	.	3.432573	0.47710	22.5	0.89194487684164336	0.18590	0.87509	0.47071	D	AEFBI	0.371469	0.45747	N	0.181932966608269	0.50332	3.224187	0.242113777422032	0.52201	3.39662	0.00194315580774608	0.09028	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.84	3.76	0.42368	2.017000	0.40600	5.263000	0.48128	0.614000	0.49286	0.997000	0.40164	1.000000	0.68203	0.688000	0.33778	0.0:0.2162:0.7838:0.0	12.357	0.54507	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	0.003550	0.005155	0.002717	0.008929	0.050000	0.000000	0.006173	0.000000	0.07143	593.83	32	chr19	17212276	.	G	T	593.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.455;DP=219;ExcessHet=0;FS=6.825;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.14;ReadPosRankSum=1.26;SOR=0.458	GT:AD:DP:GQ:PL	0/1:16,26:42:99:604,0,330	6	0	1	0
chr19	17286678	17286692	GTGTGTGTGTGTGTT	0	exonic	ANKLE1	.	.	.	.	559	741	214	4	4	226	0.130282	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1882.08	33	chr19	17286678	.	GTGTGTGTGTGTGTT	*	1882.08	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.762;DP=270;ExcessHet=0;FS=3.296;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=19.4;ReadPosRankSum=2.35;SOR=0.397	GT:AD:DP:GQ:PL	1/0:1,8:56:99:2247,1523,1409	4	0	2	1
chr19	17286684	17286684	G	0	exonic	ANKLE1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	898.39	27	chr19	17286684	.	G	*	898.39	.	AC=5;AF=0.417;AN=12;BaseQRankSum=0.286;DP=280;ExcessHet=0.7136;FS=19.529;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=5.72;ReadPosRankSum=2.23;SOR=0.155	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,47:56:99:.:.:2139,151,0:.	3	2	1	1
chr19	17286686	17286692	GTGTGTT	0	exonic	ANKLE1	.	.	.	.	513	567	132	0	310	442	0.104265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	372.06	21	chr19	17286686	.	GTGTGTT	*	372.06	.	AC=5;AF=0.417;AN=12;BaseQRankSum=1;DP=283;ExcessHet=0.1336;FS=1.953;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=2.84;ReadPosRankSum=0.379;SOR=0.544	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,47:56:99:.:.:2139,151,0:.	3	2	1	1
chr19	17286688	17286692	GTGTT	0	exonic	ANKLE1	.	.	.	.	525	471	333	8	185	534	0.270333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5833	1295.06	21	chr19	17286688	.	GTGTT	*	1295.06	.	AC=7;AF=0.583;AN=12;BaseQRankSum=1.13;DP=282;ExcessHet=0.4139;FS=7.251;MLEAC=8;MLEAF=0.667;MQ=60;MQRankSum=0;QD=7.53;ReadPosRankSum=1.35;SOR=0.301	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,47:56:99:.:.:2139,151,0:.	1	2	3	1
chr19	17286692	17286692	T	0	exonic	ANKLE1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	323.08	30	chr19	17286692	.	T	*	323.08	.	AC=10;AF=0.833;AN=12;BaseQRankSum=1.07;DP=273;ExcessHet=0;FS=2.13;MLEAC=10;MLEAF=0.833;MQ=60;MQRankSum=0;QD=1.77;ReadPosRankSum=0;SOR=1.506	GT:AD:DP:GQ:PL	1/1:0,55:55:99:2804,189,0	0	4	2	1
chr19	18173892	18173892	G	-	exonic	IFI30	.	frameshift deletion	IFI30:NM_006332:exon1:c.51delG:p.D18Tfs*15	.	396	1111	13	1	1	16	0.00670541	.	.	.	2811840	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0021	.	0.0010	0	0.0074	0	0	0.0007	0.0149	0.0010	0.000207	32	154602	rs764788458	0.0005	0.0005	0.0005	0.0006	0.0163	0.0005	0.0005	0.0137	0.0127	6.329e-05	0.0021	0.0005	0	6.196e-05	0.0163	0.0004	0.0011	0.0015	0.0006	0.0006	0.0005	0.0006	0.0025	0.0005	0.0004	0.0019	0.0017	0.0001	0	0.0025	0	0	9.407e-05	0.0068	0.0004	0.0019	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005599	0.010526	0.001534	0.011194	0.000000	0.000000	0.003356	0.012097	0.07143	1573.4	42	chr19	18173891	.	TG	T	1573.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.13;DP=301;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.57;ReadPosRankSum=0.311;SOR=0.721	GT:AD:DP:GQ:PL	0/1:57,51:108:99:1584,0,1811	6	0	1	0
chr19	21383393	21383393	G	0	exonic	ZNF738	.	.	.	.	617	630	79	26	170	301	0.0941769	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	964.56	55	chr19	21383393	.	G	*	964.56	.	AC=5;AF=0.357;AN=14;DP=319;ExcessHet=0.0509;FS=4.711;MLEAC=5;MLEAF=0.357;MQ=60;QD=4;SOR=0.444	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,58:58:99:.:.:2607,182,0:.	3	1	3	0
chr19	21974042	21974042	T	C	exonic	ZNF208	.	nonsynonymous SNV	ZNF208:NM_007153:exon4:c.A992G:p.H331R	.	435	1078	1	0	8	9	0.000463607	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.383	0.0182571118518	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1469411070	1.689e-06	1.463e-06	3.333e-06	0	8.339e-05	2.8e-07	1.1e-07	1.479e-05	6.16e-06	0	0	0	8.339e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.03	0.83351	D	1.0	0.90584	D	0.94	0.67560	D	.	.	.	.	0.913876	0.27447	N	3.27	0.90083	M	-2.18	0.86722	D	-7.15	0.94096	D	0.311	0.35088	0.073	0.83680	D	0.734	0.90916	D	8	0.9101244	0.90377	D	0.018257	0.40264	T	0.383	0.70029	0.892	0.97414	0.931758588817	0.93105	0.1103016894883463	0.10959	0.0495021571329	0.05423	0.564856767654	0.47952	T	0.040044	0.25396	T	0.0949579	0.63743	D	-0.101376	0.63292	T	0.986868798732758	0.77480	D	0.393961	0.09832	T	0.43457738	0.63051	0.3813112	0.63143	0.43457738	0.63051	0.3813112	0.63143	-9.633	0.71684	D	.	.	0.397	0.60878	A	.;.	.;.	2.355802	0.30207	18.37	0.97267771408444403	0.33121	0.62313	0.31743	D	AEFBI	0.159429	0.28523	N	0.0129430130106987	0.42442	2.557397	-0.175416654309203	0.32442	1.845819	0.0227358275250292	0.13453	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.93	2.93	0.33092	4.192000	0.58176	.	.	0.424000	0.20830	1.000000	0.71638	0.000000	0.08366	0.004000	0.06068	0.0:0.0:0.0:1.0	9.971	0.40927	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1480.27	45	chr19	21974042	.	T	C	1480.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.016;DP=649;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=59.16;MQRankSum=0.211;QD=5.94;ReadPosRankSum=0.466;SOR=0.72	GT:AD:DP:GQ:PL	0/1:171,78:249:99:1490,0,4522	5	0	1	1
chr19	22316013	22316013	T	A	exonic	ZNF729	.	nonsynonymous SNV	ZNF729:NM_001242680:exon4:c.T2596A:p.S866T	.	431	1086	5	0	0	5	0.00229674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.00101510959194	.	0.00139776	0.0025	0.0008	0.0016	0	0.0015	0.0031	0.0069	0.0030	0.0024385	377	154602	rs186174642	0.0027	0.0027	0.0026	0.0028	0.0056	0.0026	0.0026	0.0040	0.0035	0.0004	0.0015	0.0027	2.522e-05	0.0020	0.0056	0.0028	0.0024	0.0034	0.0023	0.0024	0.0023	0.0022	0.0037	0.0021	0.0020	0.0029	0.0028	0.0007	0	0.0019	0.0051	0	0.0012	0	0.0033	0.0043	0.0037	.	.	.	0.658	0.06554	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.94	0.23649	L	2.43	0.15261	T	.	.	.	0.081	0.05670	-0.9902	0.32551	T	0.011	0.04088	T	6	0.004257202	0.00085	T	0.001015	0.01096	T	.	.	.	.	0.0297737177859	0.01360	0.0033533708311257217	0.00313	0.00894687849592	0.00812	0.371445536613	0.21040	T	8.22E-4	0.00404	T	-0.768354	0.00013	T	-0.87551	0.00692	T	0.0103179011583856	0.00141	T	0.020398	0.00113	T	0.020460593	0.00606	0.050240524	0.07847	0.020460593	0.00606	0.050240524	0.07846	0.23	0.00277	T	.	.	0.129	0.27523	B	.	.	-1.723687	0.00185	0.003	0.065196831904340738	0.00025	0.00009	0.00143	N	AEFGBI	0.016562	0.00380	N	-2.75854756679435	0.00004	0.000171618	-2.93508059012259	0.00002	9.560346e-05	0.981033406160117	0.30209	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.996	-1.99	0.07047	-14.199000	0.00001	.	.	-4.314000	0.00033	0.000000	0.06391	0.001000	0.17328	0.000000	0.00833	0.3846:0.1743:0.2679:0.1733	0.577	0.00659	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	0.004923	0.000000	0.004076	0.005376	0.000000	0.008621	0.000000	0.015267	0.07143	1840.44	35	chr19	22316013	.	T	A	1840.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.11;DP=411;ExcessHet=0;FS=0.515;MLEAC=1;MLEAF=0.071;MQ=59.76;MQRankSum=1.48;QD=8.93;ReadPosRankSum=1.48;SOR=0.642	GT:AD:DP:GQ:PL	0/1:120,86:206:99:1851,0,2977	6	0	1	0
chr19	37885690	37885690	G	A	exonic	WDR87	.	stopgain	WDR87:NM_001291088:exon6:c.C7981T:p.Q2661X,WDR87:NM_031951:exon6:c.C7864T:p.Q2622X	.	429	1092	1	0	0	1	0.000457666	.	.	.	2853957	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0	0	0	0	0.0012	0	0	9.06e-05	14	154602	rs201341562	0.0002	0.0002	0.0002	0.0002	0.0140	0.0001	0.0001	0.0116	0.0106	0	0.0002	0.0029	0	2.028e-05	0.0140	4.078e-05	0.0004	3.786e-05	0.0001	0.0001	0.0001	0.0001	0.0002	8.666e-05	7.258e-05	5.287e-05	2.835e-05	0	0	0.0002	0.0032	0	0	0	7.35e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.043	0.01577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.183541	0.72367	D	0.274176	0.86805	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	5.939487	0.94125	33	0.94766780056945465	0.25482	0.07628	0.13636	N	AEFBHCI	0.037835	0.05263	N	0.00498742878222219	0.42082	2.528878	-0.38030580842423	0.25584	1.407889	9.02768247932724E-4	0.07987	0.525926	0.21836	0	0.573888	0.26702	0	0.615948	0.41167	0	0.584449	0.35598	0	.	.	4.14	0.791	0.17762	0.245000	0.17917	.	.	-0.113000	0.14837	0.004000	0.16614	0.006000	0.19429	0.066000	0.16387	0.386:0.0:0.614:0.0	5.502	0.16125	646	0.63441	.;.	.	.	.	.	.	Likely benign	0	0	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	0.001196	0.000000	0.000000	0.000000	0.000000	0.000000	0.005682	0.000000	0.07143	1898.44	98	chr19	37885690	.	G	A	1898.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.797;DP=733;ExcessHet=0;FS=3.026;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.56;ReadPosRankSum=-0.848;SOR=0.882	GT:AD:DP:GQ:PL	0/1:66,74:140:99:1909,0,1701	6	0	1	0
chr19	37887093	37887093	A	G	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.T6578C:p.I2193T,WDR87:NM_031951:exon6:c.T6461C:p.I2154T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.0455139123668	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.853e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178	0.22138	T	0.693	0.05882	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	-0.28	0.67543	T	-0.07	0.08033	N	0.067	0.03956	-0.9885	0.32978	T	0.121	0.42208	T	9	0.0735006	0.11114	T	0.045514	0.62018	D	0.030	0.07022	0.322	0.30226	0.0551355673512	0.04727	0.019455290587693495	0.01899	.	.	0.366222500801	0.20289	T	.	.	.	-0.271564	0.11583	T	-0.627859	0.10578	T	0.0769434833446011	0.09592	T	0.353365	0.07952	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.170	0.37293	B	.;.	.;.	-1.370848	0.00382	0.007	0.78222985595802419	0.12208	0.01418	0.04786	N	AEFGBI	0.030388	0.03052	N	-1.5918959215929	0.01305	0.05684392	-1.65151224496589	0.01368	0.06179205	0.00476714215870287	0.10704	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.6	-4.52	0.03227	-2.190000	0.01332	.	.	-0.612000	0.04583	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.3557:0.1261:0.5182:0.0	8.886	0.34564	646	0.63441	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2857	1280.76	60	chr19	37887093	.	A	G	1280.76	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-4.3;DP=548;ExcessHet=2.5225;FS=213.033;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=3.38;ReadPosRankSum=1.25;SOR=9.19	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:71,30:101:99:0|1:37887093_A_G:564,0,2450:37887093	3	0	4	0
chr19	37887095	37887095	C	T	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.G6576A:p.M2192I,WDR87:NM_031951:exon6:c.G6459A:p.M2153I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.0204136497208	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.31834	T	0.276	0.22016	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	1.1	0.39050	T	-0.48	0.15379	N	0.108	0.10483	-1.0375	0.18078	T	0.044	0.18948	T	9	0.05899042	0.07022	T	0.020414	0.42999	T	0.009	0.00846	0.39	0.41279	0.0920862733494	0.08535	0.029034270678991596	0.02852	.	.	0.393157303333	0.24114	T	.	.	.	-0.264741	0.12349	T	-0.618058	0.11338	T	0.0694930752056396	0.08580	T	0.381062	0.09207	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.444	0.64238	A	.;.	.;.	0.319938	0.06943	3.492	0.38647600985457964	0.02619	0.03920	0.09307	N	AEFGBI	0.049399	0.08530	N	-1.08419287681575	0.06934	0.320632	-1.08622430549721	0.07971	0.3899139	4.11720576999195E-4	0.06899	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.6	0.383	0.15462	0.602000	0.23833	.	.	0.589000	0.31548	0.070000	0.22072	0.000000	0.08366	0.013000	0.09966	0.3759:0.3632:0.0:0.2609	2.678	0.04771	646	0.63441	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4167	1980.43	59	chr19	37887095	.	C	T	1980.43	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-3.501;DP=540;ExcessHet=4.7409;FS=289.526;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.2;ReadPosRankSum=0.856;SOR=9.624	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:72,30:102:99:0|1:37887093_A_G:561,0,2472:37887093	1	0	5	1
chr19	37887096	37887096	A	G	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.T6575C:p.M2192T,WDR87:NM_031951:exon6:c.T6458C:p.M2153T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.0229314344301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.173e-07	2.259e-05	1.416e-06	0	9.296e-07	0	0	.	.	0	0	0	0	0	0	9.296e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.639	0.06992	T	0.213	0.30041	B	0.033	0.22329	B	.	.	.	.	1	0.08975	N	.	.	.	1.06	0.39781	T	-1.37	0.33998	N	0.241	0.27197	-1.0379	0.17954	T	0.045	0.19437	T	9	0.07963219	0.12831	T	0.022931	0.45860	T	0.034	0.08419	0.354	0.35408	0.132336055621	0.12781	0.09333230472886582	0.09265	.	.	0.44281449914	0.30962	T	.	.	.	-0.187347	0.22650	T	-0.506887	0.21634	T	0.185715109109879	0.19588	T	0.310469	0.06031	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.507	0.66846	A	.;.	.;.	1.675669	0.21359	15.17	0.2656475844503623	0.01278	0.05870	0.11817	N	AEFGBI	0.068161	0.13433	N	-0.937720259489842	0.09970	0.4742779	-0.936529822273914	0.11236	0.5712116	0.00186976402927546	0.08957	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.6	2.35	0.28166	3.208000	0.50816	.	.	0.743000	0.86499	0.302000	0.25342	0.056000	0.21938	0.017000	0.10941	0.637:0.1851:0.0:0.1778	5.276	0.14959	646	0.63441	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	1734.39	47	chr19	37887096	.	A	G	1734.39	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-3.754;DP=528;ExcessHet=2.5225;FS=289.601;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=4.26;ReadPosRankSum=1.08;SOR=9.25	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:71,28:99:99:0|1:37887093_A_G:550,0,2455:37887093	2	0	4	1
chr19	38192248	38192248	G	A	exonic	SIPA1L3	.	nonsynonymous SNV	SIPA1L3:NM_015073:exon17:c.G4534A:p.D1512N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.275	0.030957590412	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.061	0.92824	T	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	0.999994	0.58761	D	2.51	0.73131	M	1.2	0.37405	T	-2.87	0.60348	D	0.621	0.63628	-0.7950	0.55438	T	0.184	0.53225	T	10	0.43320912	0.57626	T	0.030958	0.53153	D	0.275	0.59130	0.346	0.34112	0.518490484181	0.51493	0.3230071047796424	0.32213	0.646601930215	0.58067	0.846655488014	0.89108	D	0.090931	0.47131	T	-0.099797	0.36457	T	-0.381128	0.35591	T	0.959940061713101	0.65668	D	0.935806	0.76258	D	0.4991163	0.67043	0.3790424	0.62968	0.4991163	0.67044	0.3790424	0.62968	-9.088	0.68261	D	.	.	0.664	0.79584	P	.;.	.;.	5.237421	0.87926	29.4	0.99928508644616665	0.99222	0.98431	0.82706	D	AEFBI	0.839354	0.75677	D	0.721555937434072	0.81047	7.431305	0.725643128013083	0.84326	8.260822	0.999999997229875	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.2	5.2	0.71720	8.373000	0.90023	11.853000	0.98135	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	17.488	0.87587	628	0.65206	Signal-induced proliferation-associated 1-like protein, C-terminal;Signal-induced proliferation-associated 1-like protein, 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	0	0	.	.	.	.	.	.	.	.	0.1429	2498.24	34	chr19	38192248	.	G	A	2498.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.23;DP=383;ExcessHet=0.3476;FS=1.612;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=11.1;ReadPosRankSum=0.824;SOR=0.651	GT:AD:DP:GQ:PL	0/1:63,50:113:99:1156,0,1403	5	0	2	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	0.1429	2223.26	35	chr19	38815889	.	C	T	2223.26	.	AC=2;AF=0.143;AN=14;BaseQRankSum=3.42;DP=404;ExcessHet=0.3476;FS=3.985;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=9.62;ReadPosRankSum=1.08;SOR=0.979	GT:AD:DP:GQ:PL	0/1:65,45:110:99:1140,0,1443	5	0	2	0
chr19	38893508	38893508	T	A	exonic	SIRT2	.	nonsynonymous SNV	SIRT2:NM_001193286:exon3:c.A21T:p.L7F,SIRT2:NM_030593:exon3:c.A21T:p.L7F,SIRT2:NM_012237:exon4:c.A132T:p.L44F	.	419	1089	12	2	0	16	0.00729262	.	.	.	704969	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.161	.	0.0110	0.0107827	0.0077	0.0190	0.0032	0.0020	0.0007	0.0086	0.0071	0.0060	0.0075031	1160	154602	rs45535036	0.0078	0.0079	0.0079	0.0077	0.0173	0.0077	0.0077	0.0162	0.0157	0.0173	0.0036	0	0.0018	0.0015	0.0040	0.0086	0.0078	0.0056	0.0096	0.0096	0.0101	0.0091	0.0170	0.0092	0.0090	0.0160	0.0156	0.0170	0	0.0053	0	0.0031	0.0013	0.0034	0.0088	0.0085	0.0054	0.627	0.06502	T	0.589	0.08245	T	0.001	0.07471	B	0.005	0.16862	B	0.628531	0.10709	N	0.826605	0.998119	0.44524	D	0.2	0.09183	N	1.21	0.48769	T	0.57	0.11547	N	0.276	0.31253	-1.0503	0.14313	T	0.030	0.12804	T	10	0.0036471784	0.00067	T	.	.	.	0.161	0.41658	0.391	0.41443	0.139678290688	0.13603	0.40462940314711654	0.40378	0.23887650308	0.26443	0.387695014477	0.23345	T	0.11804	0.43856	T	-0.456061	0.01039	T	-0.413597	0.31810	T	0.00402687135974191	0.00043	T	.	.	.	0.15268978	0.34649	0.09309037	0.21972	0.15268978	0.34648	0.09309037	0.21971	-7.759	0.59416	D	.	.	0.106	0.19478	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	2.275245	0.29088	18.01	0.9688391060178797	0.31469	0.47111	0.27910	N	AEDBI	0.089627	0.18167	N	-0.900700129620411	0.10825	0.5192742	-0.781154816376222	0.14957	0.7842521	0.997731569887215	0.35965	0.706298	0.61202	0	0.709663	0.81188	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.26	0.518	0.16228	-0.022000	0.12424	0.904000	0.22573	-0.132000	0.13132	0.956000	0.33378	1.000000	0.68203	0.949000	0.49496	0.0:0.1369:0.5514:0.3117	8.856	0.34386	645	0.63593	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.006042	0.010101	0.006793	0.000000	0.000000	0.017241	0.003049	0.007576	0.1429	763.29	33	chr19	38893508	.	T	A	763.29	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.28;DP=202;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=10.31;ReadPosRankSum=1.77;SOR=0.762	GT:AD:DP:GQ:PL	0/1:14,19:33:99:418,0,353	5	0	2	0
chr19	38930489	38930489	G	A	exonic	SARS2	.	nonsynonymous SNV	SARS2:NM_001145901:exon1:c.C248T:p.S83L,SARS2:NM_017827:exon1:c.C248T:p.S83L	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, Autosomal recessive	0	1451	68	3	0	74	0.0248656	.	.	.	142664	Hyperuricemia,_pulmonary_hypertension,_renal_failure,_alkalosis_syndrome|not_specified|not_provided	MONDO:MONDO:0013458,MedGen:C3151209,OMIM:613845,Orphanet:363694|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.096	.	0.0064	0.0091853	0.0100	0.0020	0.0067	0.0001	0.0046	0.0090	0.0153	0.0273	0.0093725	1449	154602	rs34050897	0.0096	0.0096	0.0091	0.0102	0.0259	0.0095	0.0095	0.0250	0.0246	0.0020	0.0069	0.0027	0.0001	0.0044	0.0141	0.0094	0.0097	0.0259	0.0066	0.0066	0.0066	0.0066	0.0259	0.0063	0.0061	0.0222	0.0208	0.0018	0	0.0059	0.0026	0.0004	0.0030	0.0136	0.0095	0.0099	0.0259	0.327	0.13262	T	0.312	0.19660	T	0.077	0.24313	B	0.004	0.10090	B	0.014799	0.28429	N	0.367956	.	.	.	0.345	0.11182	N	0.49	0.55775	T	-1.17	0.31375	N	0.179	0.29544	-0.7507	0.57899	T	0.096	0.36263	T	9	0.003596574	0.00065	T	.	.	.	0.096	0.27654	.	.	0.701561391093	0.69897	0.2950527999363668	0.29418	0.273909488683	0.29889	0.44043302536	0.30635	T	0.072744	0.34529	T	-0.482439	0.00716	T	-0.44617	0.28119	T	0.0226525112198306	0.00983	T	.	.	.	0.10467068	0.24745	0.14380763	0.34163	0.10447656	0.24699	0.14380763	0.34162	-4.243	0.31805	T	.	.	0.085	0.12750	B	.;.;.	.;.;.	2.975981	0.39681	21.0	0.9621310437656867	0.29063	0.26748	0.23082	N	ALL	0.164522	0.29092	N	-0.237899072677068	0.31589	1.77281	-0.233137074387494	0.30356	1.708518	1.0	0.98316	0.468429	0.09910	2	0.504199	0.08210	0	0.504199	0.09095	0	0.241949	0.04745	2	.	.	5.51	5.51	0.81769	2.031000	0.40737	11.638000	0.93763	0.676000	0.76740	0.048000	0.21332	1.000000	0.68203	0.010000	0.09038	0.0:0.0:1.0:0.0	14.793	0.69479	680	0.59965	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010617	0.015152	0.004087	0.000000	0.000000	0.000000	0.030488	0.018939	0.1429	485.24	33	chr19	38930489	.	G	A	485.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.41;DP=238;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=6.56;ReadPosRankSum=0.524;SOR=0.614	GT:AD:DP:GQ:PL	0/1:47,22:69:99:465,0,1126	5	0	2	0
chr19	38932690	38932692	AGA	-	exonic	MRPS12	.	nonframeshift deletion	MRPS12:NM_021107:exon2:c.407_409del:p.K138del,MRPS12:NM_033362:exon3:c.407_409del:p.K138del,MRPS12:NM_033363:exon3:c.407_409del:p.K138del	.	421	1083	18	0	0	18	0.00824176	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0034	0.00239617	0.0046	0.0007	0.0034	0	0.0202	0.0049	0.0138	0.0023	0.0003842	10	26028	rs563094654	0.0043	0.0043	0.0044	0.0042	0.0043	0.0042	0.0042	0.0041	0.0041	0.0010	0.0037	3.829e-05	5.039e-05	0.0180	0.0026	0.0043	0.0041	0.0022	0.0038	0.0039	0.0031	0.0046	0.0040	0.0036	0.0035	0.0036	0.0034	0.0008	0	0.0030	0	0.0004	0.0194	0	0.0040	0.0057	0.0031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003528	0.000000	0.001359	0.000000	0.000000	0.008621	0.012195	0.007576	0.1429	933.2	33	chr19	38932689	.	CAGA	C	933.2	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.917;DP=221;ExcessHet=0.3476;FS=1.134;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=15.82;ReadPosRankSum=-0.253;SOR=0.948	GT:AD:DP:GQ:PL	0/1:30,23:53:99:876,0,1182	5	0	2	0
chr19	39244094	39244094	T	C	exonic	IFNL3	.	nonsynonymous SNV	IFNL3:NM_172139:exon3:c.A322G:p.T108A,IFNL3:NM_001346937:exon4:c.A334G:p.T112A	.	408	1081	33	0	0	33	0.0150342	.	.	.	716424	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.027	.	0.0080	0.00658946	0.0063	0.0084	0.0023	0	0.0009	0.0072	0.0033	0.0096	0.0057502	889	154602	rs148543092	0.0076	0.0077	0.0076	0.0076	0.0153	0.0075	0.0075	0.0127	0.0117	0.0075	0.0028	0.0169	2.519e-05	0.0005	0.0153	0.0080	0.0090	0.0096	0.0065	0.0066	0.0069	0.0061	0.0098	0.0062	0.0061	0.0076	0.0068	0.0072	0.0011	0.0033	0.0170	0	0.0003	0.0272	0.0075	0.0057	0.0098	0.598	0.05668	T	0.564	0.09175	T	0.0	0.02946	B	0.0	0.01387	B	0.181763	0.03187	N	1.646800	1	0.08975	N	-0.805	0.01590	N	1.63	0.28002	T	0.07	0.06138	N	0.095	0.08786	-1.0032	0.28992	T	0.013	0.04843	T	10	0.004872024	0.00104	T	.	.	.	0.027	0.05988	.	.	0.0551355673512	0.04727	0.06321474939485254	0.06260	0.194421687405	0.21778	0.238838389516	0.02687	T	0.00212	0.01528	T	-0.653927	0.00068	T	-0.704564	0.05580	T	0.000677952636739895	0.00006	T	0.0663934	0.00484	T	0.06118931	0.12643	0.05127555	0.08218	0.06118931	0.12643	0.05127555	0.08217	-2.013	0.03230	T	.	.	0.061	0.01161	B	.;.	.;.	-1.429335	0.00340	0.006	0.26308200845364488	0.01254	0.00123	0.00769	N	AEFDGI	0.018149	0.00528	N	-2.01541304609239	0.00196	0.008400045	-2.0513431503479	0.00237	0.01046984	0.0605367096954669	0.15200	0.497415	0.19182	0	0.547309	0.14657	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	3.1	-5.88	0.02100	-3.477000	0.00510	.	.	-1.370000	0.01171	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.0:0.2254:0.0:0.7746	10.056	0.41419	584	0.69381	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.011078	0.000000	0.005435	0.023392	0.000000	0.025862	0.018293	0.011364	0.07143	811.46	33	chr19	39244094	.	T	C	811.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.003;DP=300;ExcessHet=0;FS=3.668;MLEAC=1;MLEAF=0.071;MQ=59.92;MQRankSum=0.775;QD=7.38;ReadPosRankSum=1.89;SOR=1.061	GT:AD:DP:GQ:PL	0/1:70,40:110:99:822,0,1829	6	0	1	0
chr19	39502998	39502998	-	GCGGT	exonic	DLL3	.	frameshift insertion	DLL3:NM_016941:exon4:c.593_594insGCGGT:p.P202Afs*41,DLL3:NM_203486:exon4:c.593_594insGCGGT:p.P202Afs*41	Spondylocostal dysostosis 1, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	21867	Leukodystrophy_and_acquired_microcephaly_with_or_without_dystonia%3B|not_provided|Spondylocostal_dysostosis_1,_autosomal_recessive	MONDO:MONDO:0014766,MedGen:C4225213,OMIM:616763|MedGen:C3661900|MONDO:MONDO:0020692,MedGen:CN032975,OMIM:277300,Orphanet:2311	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	.	0.0005	0	0	3.84e-05	1	26028	rs1442149017	8.477e-05	8.277e-05	7.84e-05	9.132e-05	0.0003	7.164e-05	6.728e-05	0.0002	0.0001	0.0003	0.0002	8.498e-05	3.344e-05	0	0	8.035e-05	9.014e-05	6.783e-05	6.578e-05	7.223e-05	3.856e-05	9.432e-05	0.0004	3.52e-05	2.619e-05	7.279e-05	3.025e-05	7.241e-05	0	6.547e-05	0	0	0	0	4.417e-05	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	819.35	9	chr19	39502998	.	C	CGCGGT	819.35	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.21;DP=141;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=19.51;ReadPosRankSum=0.495;SOR=0.693	GT:AD:DP:GQ:PL	0/1:12,10:22:99:363,0,454	5	0	2	0
chr19	40472737	40472737	C	T	exonic	SPTBN4	.	nonsynonymous SNV	SPTBN4:NM_020971:exon2:c.C116T:p.A39V	.	378	1140	4	0	0	4	0.00175131	.	.	.	704994	not_provided|SPTBN4-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.285	0.0586066660994	0.0020	0.00299521	0.0037	0.0009	0.0062	0	0.0013	0.0047	0.0056	0.0027	0.0025873	400	154602	rs150447798	0.0029	0.0029	0.0029	0.0029	0.0090	0.0028	0.0028	0.0070	0.0063	0.0005	0.0043	0.0022	2.528e-05	0.0008	0.0090	0.0031	0.0032	0.0019	0.0023	0.0023	0.0026	0.0019	0.0035	0.0021	0.0020	0.0031	0.0030	0.0006	0	0.0035	0.0029	0.0002	0.0003	0.0102	0.0035	0.0038	0.0010	0.044	0.47745	D	0.118	0.42436	T	0.672	0.41203	P	0.041	0.23986	B	0.032264	0.25053	U	0.311890	1	0.08975	N	1.15	0.29295	L	-0.98	0.76819	T	-0.78	0.21644	N	0.38	0.42149	-0.5419	0.67092	T	0.222	0.58588	T	10	0.0076540112	0.00174	T	0.058607	0.67376	D	0.285	0.60338	.	.	0.712887574675	0.71037	0.24937178606433558	0.24851	.	.	0.465637981892	0.34083	T	0.016004	0.45505	T	-0.319788	0.06916	T	-0.229796	0.51792	T	0.0315060213500809	0.02226	T	0.741926	0.38135	T	0.10724227	0.25358	0.1022628	0.24504	0.08626137	0.20044	0.085737295	0.19817	-5.235	0.39295	T	.	.	0.087	0.11317	B	.;.;.;.;.	.;.;.;.;.	1.913126	0.24300	16.34	0.99767781522230403	0.85666	0.21288	0.21349	N	AEFDBHCI	0.150887	0.27526	N	-0.16829900385486	0.34459	1.967121	-0.167780468374285	0.32730	1.864992	0.952533294052555	0.28021	0.553676	0.25195	0	0.588015	0.36545	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	6.03	6.03	0.97798	3.388000	0.52247	.	.	0.592000	0.32167	0.263000	0.24978	0.988000	0.31051	0.008000	0.08271	0.0:1.0:0.0:0.0	16.067	0.80693	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	1	0	0	0	0	1	0	0.009606	0.010309	0.009511	0.026316	0.000000	0.008621	0.006173	0.000000	0.08333	540.27	34	chr19	40472737	.	C	T	540.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.38;DP=224;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.74;ReadPosRankSum=-0.121;SOR=0.685	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:25,21:46:99:0|1:40472733_G_A:550,0,591:40472733	5	0	1	1
chr19	40846030	40846030	A	G	exonic	CYP2A6	.	nonsynonymous SNV	CYP2A6:NM_000762:exon6:c.T899C:p.I300T	Coumarin resistance, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3239629	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.133	0.0303691343264	7.7e-05	0.000199681	0.0002	0	0.0002	0.0001	0	0.0003	0.0011	0.0002	0.0002458	38	154602	rs148693084	0.0004	0.0004	0.0004	0.0004	0.0004	0.0004	0.0004	0.0004	0.0004	0.0001	0.0002	0	0.0003	1.874e-05	0.0002	0.0004	0.0005	0.0003	0.0003	0.0003	0.0003	0.0003	0.0008	0.0002	0.0002	0.0003	0.0002	9.721e-05	0	0.0005	0	0	0	0	0.0004	0.0005	0.0008	0.102	0.30235	T	0.125	0.35330	T	.	.	.	.	.	.	0.129615	0.18688	U	0.542019	0.987188	0.24543	N	.	.	.	-0.38	0.69027	T	-1.12	0.28906	N	0.228	0.25622	-0.8777	0.49943	T	0.195	0.54956	T	10	0.07926196	0.12729	T	0.030369	0.52693	D	0.133	0.36157	.	.	0.648220878664	0.64530	0.2522421240906263	0.25138	0.248346388218	0.27397	0.529774308205	0.43003	T	.	.	.	-0.330295	0.06089	T	-0.388279	0.34754	T	0.00675995647907257	0.00076	T	0.764224	0.39120	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.235	0.46893	B	.	.	2.296588	0.29380	18.10	0.88023895089501025	0.17659	0.28636	0.23608	N	AEFDBI	0.291890	0.40290	N	-0.742528645064168	0.14837	0.7425201	-0.750083870261629	0.15720	0.8281814	0.00332187610044662	0.10056	0.490419	0.18000	1	0.59043	0.45803	0	0.667716	0.60424	0	0.530356	0.10902	0	.	.	2.44	2.44	0.28875	0.471000	0.21811	.	.	0.496000	0.22519	0.000000	0.06391	0.555000	0.25489	0.003000	0.05239	1.0:0.0:0.0:0.0	9.821	0.40051	521	0.74284	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	4066.24	33	chr19	40846030	.	A	G	4066.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.33;DP=510;ExcessHet=0.3476;FS=3.392;MLEAC=2;MLEAF=0.143;MQ=59.99;MQRankSum=0;QD=11.45;ReadPosRankSum=0.699;SOR=0.562	GT:AD:DP:GQ:PL	0/1:90,100:190:99:2218,0,2136	5	0	2	0
chr19	42095395	42095395	A	G	exonic	POU2F2	.	nonsynonymous SNV	POU2F2:NM_001207025:exon11:c.T1022C:p.I341T,POU2F2:NM_001207026:exon11:c.T1022C:p.I341T,POU2F2:NM_001247994:exon11:c.T974C:p.I325T,POU2F2:NM_002698:exon11:c.T974C:p.I325T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.931	0.491804921791	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	0.997	0.77913	D	0.977	0.74454	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.825	0.47900	L	-4.25	0.97054	D	-4.24	0.76015	D	0.845	0.86297	1.045	0.98021	D	0.926	0.97544	D	10	0.92589384	0.91938	D	0.491805	0.95011	D	0.931	0.98378	0.762	0.89053	0.979705899228	0.97949	0.9814169942772814	0.98133	2.91012196725	0.99100	0.8950933218	0.95878	D	0.808246	0.99683	D	0.525352	0.95038	D	0.516856	0.94964	D	0.994730926619758	0.86208	D	0.952605	0.82322	D	0.7007408	0.78097	0.57755935	0.75522	0.7007408	0.78099	0.57755935	0.75523	-12.58	0.87561	D	.	.	0.997	0.97319	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.697003	0.75326	26.3	0.99835600142926961	0.91714	0.97930	0.78210	D	AEFBI	0.935600	0.93069	D	0.708200846287782	0.80171	7.235341	0.648994966838081	0.78535	6.895993	0.99999985343175	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.667671	0.60360	0	0.699875	0.68795	0	.	.	3.99	3.99	0.45527	9.263000	0.94779	11.242000	0.90457	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	12.324	0.54323	846	0.36215	.;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;.;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	116.63	43	chr19	42095395	.	A	G	116.63	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.091;DP=314;ExcessHet=0.3476;FS=68.826;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=0.74;ReadPosRankSum=0.348;SOR=6.439	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:64,8:72:23:0|1:42095395_A_G:23,0,2398:42095395	5	0	2	0
chr19	42095399	42095399	C	G	exonic	POU2F2	.	nonsynonymous SNV	POU2F2:NM_001207025:exon11:c.G1018C:p.V340L,POU2F2:NM_001207026:exon11:c.G1018C:p.V340L,POU2F2:NM_001247994:exon11:c.G970C:p.V324L,POU2F2:NM_002698:exon11:c.G970C:p.V324L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.939	0.359661340362	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.841e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	0.998	0.77913	D	0.989	0.78396	D	0.000001	0.84330	D	0.000000	1	0.81001	D	3.015	0.86134	M	-4.0	0.96339	D	-3.0	0.62343	D	0.826	0.82862	1.095	0.99469	D	0.951	0.98412	D	10	0.89701736	0.89057	D	0.359661	0.92479	D	0.939	0.98672	0.557	0.67547	0.949703262491	0.94917	0.9550304941655845	0.95488	2.60485491865	0.98196	0.885964512825	0.94748	D	0.792883	0.99163	D	0.495984	0.94173	D	0.47467	0.94096	D	0.993351914106228	0.84121	D	0.988801	0.96255	D	0.74310046	0.80470	0.69191414	0.81869	0.74310046	0.80471	0.69191414	0.81870	-12.988	0.89314	D	.	.	1.000	0.99395	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.327483	0.89412	30	0.99782441860528814	0.86867	0.97748	0.76847	D	AEFBI	0.946708	0.95645	D	0.844617874197824	0.88800	9.71644	0.738513627196856	0.85298	8.538503	0.999999999650972	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.667671	0.60360	0	0.699875	0.68795	0	.	.	3.99	3.99	0.45527	7.854000	0.85267	7.690000	0.65738	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	15.399	0.74539	846	0.36215	.;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;.;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	187.63	45	chr19	42095399	.	C	G	187.63	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-3.118;DP=360;ExcessHet=1.383;FS=105.92;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=0.98;ReadPosRankSum=0.184;SOR=7.168	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:57,13:70:99:0|1:42095395_A_G:119,0,1346:42095395	3	0	3	1
chr19	43267912	43267912	A	G	exonic	PSG9	.	nonsynonymous SNV	PSG9:NM_001301707:exon2:c.T302C:p.V101A,PSG9:NM_001301708:exon2:c.T302C:p.V101A,PSG9:NM_001301709:exon2:c.T302C:p.V101A,PSG9:NM_002784:exon2:c.T302C:p.V101A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00290313431593	.	.	8.236e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs746174208	1.026e-05	1.026e-05	6.807e-06	1.375e-05	0.0001	6.16e-06	4.89e-06	5.396e-05	4.042e-05	0.0001	0	0	0	0	0	1.799e-06	0	0.0001	6.576e-06	6.568e-06	1.285e-05	0	2.416e-05	0	0	.	.	2.416e-05	0	0	0	0	0	0	0	0	0	0.1	0.35165	T	0.032	0.53788	D	0.006	0.28508	B	0.03	0.28327	B	.	.	.	.	1	0.08975	N	2.175	0.60977	M	-0.33	0.68329	T	-2.72	0.62008	D	0.074	0.05287	-0.9636	0.38488	T	0.124	0.42820	T	9	0.2189512	0.38551	T	0.002903	0.06133	T	0.101	0.28911	0.755	0.88484	0.497280371566	0.49363	0.059660059810907724	0.05906	0.00585735596096	0.00512	0.355807393789	0.18774	T	0.078391	0.36852	T	-0.314265	0.07377	T	-0.507669	0.21555	T	0.0370262042691814	0.03159	T	0.366163	0.08910	T	0.0967667	0.22797	0.096290536	0.22874	0.0967667	0.22797	0.096290536	0.22873	-6.79	0.55610	T	.	.	0.204	0.49108	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.549690	0.19861	14.47	0.63657758825684552	0.07282	0.00607	0.02700	N	AEFBI	0.028196	0.02440	N	-0.647170993566819	0.17542	0.9035968	-0.887729434314332	0.12383	0.6367163	0.0474189477076457	0.14729	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	1.56	0.465	0.15923	0.360000	0.19987	.	.	0.483000	0.22176	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.7565:0.0:0.2435:0.0	3.343	0.06709	830	0.39242	Immunoglobulin V-set domain|Immunoglobulin subtype;Immunoglobulin V-set domain|Immunoglobulin subtype;Immunoglobulin V-set domain|Immunoglobulin subtype;Immunoglobulin V-set domain|Immunoglobulin subtype;Immunoglobulin V-set domain|Immunoglobulin subtype;Immunoglobulin V-set domain|Immunoglobulin subtype;.;Immunoglobulin V-set domain|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	4602.44	34	chr19	43267912	.	A	G	4602.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.29;DP=505;ExcessHet=0;FS=2.405;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.43;ReadPosRankSum=2.27;SOR=0.726	GT:AD:DP:GQ:PL	0/1:144,175:319:99:4613,0,3444	6	0	1	0
chr19	43360267	43360267	T	G	exonic	CD177	.	nonsynonymous SNV	CD177:NM_020406:exon6:c.T622G:p.F208V	.	422	1099	1	0	0	1	0.000454752	.	.	.	728237	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.021	.	0.0059	0.00499201	0.0021	0.0204	0.0017	0.0011	0	0.0002	0.0012	0.0004	0.0017076	264	154602	rs73559882	0.0007	0.0007	0.0008	0.0006	0.0186	0.0007	0.0007	0.0174	0.0169	0.0186	0.0012	3.831e-05	0.0010	1.874e-05	0.0012	0.0002	0.0011	0.0005	0.0054	0.0054	0.0054	0.0054	0.0184	0.0051	0.0050	0.0173	0.0169	0.0184	0	0.0016	0	0.0006	0	0	0.0002	0.0043	0.0012	.	.	.	0.662	0.06469	T	.	.	.	.	.	.	.	.	.	.	1	0.19072	N	.	.	.	.	.	.	.	.	.	0.107	0.09207	.	.	.	.	.	.	.	0.0041930676	0.00083	T	.	.	.	.	.	.	.	0.0297737177859	0.01360	0.27016332143910726	0.26929	.	.	0.278676092625	0.07309	T	.	.	.	-0.722642	0.00027	T	-0.796522	0.01991	T	0.000349254600483273	0.00003	T	0.204979	0.02394	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.25978	B	.	.	-1.896431	0.00128	0.002	0.6915302550359147	0.08882	0.00300	0.01598	N	AEFDGBI	0.036278	0.04807	N	-1.53269640661749	0.01638	0.07164079	-1.86765229110733	0.00566	0.02511846	0.994617042786974	0.33720	0.653281	0.48532	0	0.573888	0.26702	0	0.675528	0.61593	0	0.564101	0.26826	0	.	.	3.18	-6.36	0.01796	-2.728000	0.00877	.	.	-1.161000	0.01412	0.000000	0.06391	0.000000	0.08366	0.046000	0.14843	0.4064:0.0856:0.2815:0.2265	1.645	0.02594	884	0.28482	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.001359	0.005848	0.000000	0.000000	0.000000	0.000000	0.07143	981.44	33	chr19	43360267	.	T	G	981.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.325;DP=287;ExcessHet=0;FS=0.748;MLEAC=1;MLEAF=0.071;MQ=59.34;MQRankSum=-2.52;QD=10.01;ReadPosRankSum=0.229;SOR=0.784	GT:AD:DP:GQ:PL	0/1:54,44:98:99:992,0,1394	6	0	1	0
chr19	44032765	44032765	C	T	exonic	ZNF222	.	nonsynonymous SNV	ZNF222:NM_001129996:exon4:c.C1211T:p.T404M,ZNF222:NM_013360:exon4:c.C1091T:p.T364M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.00198558338622	.	.	8.238e-05	0	0.0002	0.0001	0	4.496e-05	0	0.0002	6.47e-05	10	154602	rs774744636	4.788e-05	4.788e-05	3.947e-05	5.638e-05	0.0003	3.86e-05	3.54e-05	0.0001	0.0001	8.961e-05	0.0001	3.826e-05	0.0002	0	0.0003	3.147e-05	1.656e-05	0.0002	3.288e-05	3.284e-05	2.571e-05	4.039e-05	0.0004	1.262e-05	7.98e-06	7.29e-05	3.029e-05	2.415e-05	0	0.0001	0	0	0	0	0	0	0.0004	0.014	0.53172	D	0.006	0.70582	D	0.125	0.26866	B	0.091	0.29943	B	.	.	.	.	0.998137	0.22332	N	2.5	0.72771	M	1.74	0.26301	T	-5.0	0.82341	D	0.169	0.19593	-0.9487	0.41194	T	0.090	0.34628	T	9	0.09590778	0.17164	T	0.001986	0.03562	T	0.085	0.24743	0.423	0.46693	0.298056030225	0.29408	0.0368681026568925	0.03633	0.0515081126592	0.05672	0.326141178608	0.14351	T	0.058634	0.30895	T	-0.417513	0.01774	T	-0.545356	0.17775	T	0.117061006816827	0.14139	T	0.770723	0.40088	T	0.043202657	0.06692	0.09410794	0.22261	0.043202657	0.06692	0.09410794	0.22261	-8.316	0.63203	D	.	.	0.166	0.40360	B	.;.	.;.	1.369664	0.17795	13.37	0.83737228677424391	0.14891	0.01820	0.05660	N	AEFGBCI	0.040718	0.06093	N	-0.858909154671018	0.11831	0.5731698	-0.971558616499363	0.10427	0.5250999	0.00100797712540995	0.08115	0.651	0.46895	0	0.708844	0.79440	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	2.79	0.434	0.15752	0.404000	0.20722	.	.	-1.305000	0.01240	0.009000	0.18154	0.000000	0.08366	0.000000	0.00833	0.186:0.7026:0.0:0.1114	5.971	0.18588	605	0.67457	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	.	.	.	.	.	.	.	.	0.07143	2987.44	45	chr19	44032765	.	C	T	2987.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.7;DP=443;ExcessHet=0;FS=5.691;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.83;ReadPosRankSum=0.884;SOR=0.42	GT:AD:DP:GQ:PL	0/1:104,112:216:99:2998,0,2391	6	0	1	0
chr19	44430417	44430417	A	G	exonic	ZNF229	.	nonsynonymous SNV	ZNF229:NM_001278510:exon6:c.T346C:p.C116R,ZNF229:NM_014518:exon6:c.T364C:p.C122R	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.000474888114773	8.4e-05	0.000199681	4.142e-05	0.0005	0	0	0	0	0	0	3.88e-05	6	154602	rs180823319	1.163e-05	1.163e-05	8.167e-06	1.513e-05	0.0005	7.08e-06	5.79e-06	0.0003	0.0002	0.0005	0	0	0	0	0.0002	0	0	0	0.0001	0.0001	0.0001	6.714e-05	0.0004	6.508e-05	5.32e-05	0.0002	0.0002	0.0004	0	0	0	0	0	0	0	0	0	.	.	.	0.371	0.16425	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.02	0.00308	-1.0266	0.21560	T	0.056	0.23677	T	8	0.02163601	0.00522	T	4.75E-4	0.00124	T	.	.	.	.	0.208000267992	0.20380	0.17448970674389316	0.17367	.	.	0.275826096535	0.06917	T	.	.	.	-0.184895	0.23011	T	-0.503366	0.22000	T	0.00475959889665629	0.00051	T	0.229577	0.03081	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.25462	B	.;.	.;.	-0.744428	0.01221	0.061	0.29446418485637849	0.01562	0.00386	0.01946	N	AEFBI	0.024434	0.01514	N	-1.41648133462521	0.02494	0.1101972	-1.50794856977127	0.02282	0.1047273	4.17063474847899E-4	0.06899	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.635551	0.53088	0	.	.	3.33	-3.52	0.04383	-1.359000	0.02709	.	.	-0.120000	0.14102	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5582:0.1629:0.2788:0.0	5.355	0.15359	912	0.21483	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	2118.44	35	chr19	44430417	.	A	G	2118.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.345;DP=357;ExcessHet=0;FS=5.949;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.94;ReadPosRankSum=0.666;SOR=0.891	GT:AD:DP:GQ:PL	0/1:69,83:152:99:2129,0,1744	6	0	1	0
chr19	44814191	44814191	C	T	exonic	BCAM	.	nonsynonymous SNV	BCAM:NM_001013257:exon7:c.C824T:p.S275F,BCAM:NM_005581:exon7:c.C824T:p.S275F	.	415	1101	6	0	0	6	0.00271739	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.0199055840572	0.0018	0.00159744	0.0016	0.0013	0.0003	0	0.0002	0.0017	0.0023	0.0041	0.0016106	249	154602	rs139610351	0.0021	0.0020	0.0020	0.0021	0.0033	0.0020	0.0020	0.0029	0.0028	0.0003	0.0003	0.0031	7.69e-05	0.0004	0.0018	0.0022	0.0016	0.0033	0.0012	0.0012	0.0011	0.0014	0.0048	0.0011	0.0010	0.0033	0.0028	0.0004	0	0.0002	0.0032	0	0.0004	0	0.0019	0.0009	0.0048	0.006	0.61437	D	0.013	0.69154	D	0.995	0.67487	D	0.944	0.68059	D	.	.	.	.	1	0.08975	N	2.79	0.81396	M	2.65	0.68892	T	-2.21	0.49684	N	0.434	0.47301	-1.0751	0.08328	T	0.044	0.18824	T	9	0.0076416135	0.00174	T	0.019906	0.42389	T	0.121	0.33580	.	.	0.498387242485	0.49473	0.3604593471763995	0.35959	0.669328087364	0.59342	0.529243946075	0.42927	T	0.132674	0.46291	T	-0.325482	0.06459	T	-0.242099	0.50594	T	0.0334224699105504	0.02541	T	0.810419	0.46176	T	0.08789899	0.20485	0.14533965	0.34472	0.08694026	0.20226	0.1703657	0.39140	-9.118	0.68453	D	.	.	0.200	0.42302	B	.;.;.	.;.;.	3.820635	0.55160	23.6	0.99645249689230986	0.76943	0.05805	0.11742	N	AEFDBI	0.090954	0.18427	N	-0.147241788161712	0.35351	2.029492	-0.311621938858244	0.27723	1.540347	0.86132319466983	0.25231	0.706548	0.73137	0	0.547309	0.14657	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	3.98	2.95	0.33285	1.706000	0.37497	.	.	0.599000	0.40250	0.003000	0.16062	0.891000	0.27831	0.222000	0.22517	0.0:0.8718:0.0:0.1282	6.602	0.21901	616	0.66398	Immunoglobulin-like domain;Immunoglobulin-like domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.003788	0.07143	1361.45	33	chr19	44814191	.	C	T	1361.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.588;DP=257;ExcessHet=0;FS=1.873;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.21;ReadPosRankSum=1.98;SOR=0.957	GT:AD:DP:GQ:PL	0/1:30,54:84:99:1372,0,617	6	0	1	0
chr19	46347154	46347154	C	G	exonic	PPP5C	.	nonsynonymous SNV	PPP5C:NM_001204284:exon1:c.C58G:p.P20A,PPP5C:NM_006247:exon1:c.C58G:p.P20A	.	433	1088	1	0	0	1	0.000459348	.	.	.	2689888	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.071	0.0302918819224	.	.	0.0001	0	0	0	0	0.0002	0	0	6.47e-05	10	154602	rs770899505	6.674e-05	6.704e-05	6.155e-05	7.199e-05	0.0007	5.594e-05	5.182e-05	0.0002	0.0001	0	6.874e-05	0.0005	0	0	0.0007	5.774e-05	0.0001	5.893e-05	3.942e-05	3.94e-05	6.422e-05	1.345e-05	6.539e-05	1.715e-05	1.129e-05	1.171e-05	6.25e-06	0	0	6.539e-05	0.0006	0	0	0	4.41e-05	0	0	0.022	0.48642	D	0.747	0.04860	T	0.276	0.31942	B	0.03	0.21741	B	0.055671	0.22624	U	0.327961	0.781547	0.81001	D	1.04	0.26193	L	3.58	0.04594	T	-0.21	0.10308	N	0.216	0.24135	-0.8655	0.50864	T	0.010	0.03492	T	10	0.09352875	0.16559	T	0.030292	0.52630	D	0.071	0.20720	.	.	0.334371577756	0.33041	0.23859354166576582	0.23773	0.66294325235	0.59002	0.647140681744	0.59580	T	0.241138	0.60961	T	-0.336084	0.05664	T	-0.465492	0.26004	T	0.0838393984449613	0.10471	T	0.80342	0.45053	T	0.12491375	0.29296	0.14515361	0.34437	0.12491375	0.29296	0.14515361	0.34436	-2.89	0.09044	T	.	.	0.047	0.00067	B	.	.	2.747510	0.36003	20.1	0.85879433456651633	0.16170	0.92378	0.55573	D	AEFGBHCIJ	0.425377	0.49016	N	-0.361372679138855	0.26857	1.468983	-0.276898815517414	0.28861	1.612467	0.999999999777183	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	3.3	3.3	0.36912	1.849000	0.38958	7.569000	0.60664	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.668000	0.33194	0.2439:0.7561:0.0:0.0	7.989	0.29392	471	0.78036	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	692.27	40	chr19	46347154	.	C	G	692.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.093;DP=240;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.17;ReadPosRankSum=0.741;SOR=0.791	GT:AD:DP:GQ:PL	0/1:29,33:62:99:702,0,730	5	0	1	1
chr19	46693997	46693997	G	A	exonic	PRKD2	.	nonsynonymous SNV	PRKD2:NM_001079882:exon9:c.C983T:p.T328I,PRKD2:NM_016457:exon10:c.C1454T:p.T485I,PRKD2:NM_001079880:exon11:c.C1454T:p.T485I,PRKD2:NM_001079881:exon11:c.C1454T:p.T485I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.0130512290046	.	.	8.343e-06	0	0	0	0	1.52e-05	0	0	6.5e-06	1	154602	rs770816078	1.574e-05	1.573e-05	1.634e-05	1.513e-05	2.068e-05	1.048e-05	8.75e-06	1.377e-05	1.15e-05	0	0	0	0	0	0	2.068e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	0.20912	T	0.182	0.29249	T	0.002	0.09854	B	0.084	0.29270	B	0.294139	0.14714	N	0.614785	0.975348	0.25439	N	0.805	0.20218	L	1.99	0.21666	T	-0.22	0.10480	N	0.115	0.10340	-1.0343	0.19078	T	0.031	0.13286	T	10	0.11669639	0.22021	T	0.013051	0.32145	T	0.038	0.09825	0.338	0.32816	0.251679625132	0.24793	0.3547177071514056	0.35385	0.892229731964	0.70259	0.456803798676	0.32873	T	0.195766	0.55195	T	-0.240699	0.15260	T	-0.583524	0.14232	T	0.172908574342728	0.18776	T	0.20418	0.03603	T	0.049780384	0.08892	0.09704183	0.23083	0.049780384	0.08891	0.09704183	0.23082	-6.145	0.47623	T	0.10032903409661288	0.07389	0.068	0.04238	B	.;.;.;.;.	.;.;.;.;.	2.421700	0.31137	18.65	0.95918467061424328	0.28181	0.92652	0.56217	D	AEFDBI	0.279146	0.39326	N	-0.332473311150352	0.27920	1.535825	-0.150390410237675	0.33393	1.909704	0.0339309556260548	0.14129	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.73	4.73	0.59485	2.838000	0.47900	6.434000	0.55639	0.676000	0.76740	0.902000	0.31475	1.000000	0.68203	0.551000	0.30197	0.0902:0.0:0.9098:0.0	11.270	0.48364	929	0.16858	.;Pleckstrin homology domain|Pleckstrin homology domain;Pleckstrin homology domain|Pleckstrin homology domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1173.45	35	chr19	46693997	.	G	A	1173.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.99;DP=279;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.85;ReadPosRankSum=1.49;SOR=0.682	GT:AD:DP:GQ:PL	0/1:52,47:99:99:1184,0,1171	6	0	1	0
chr19	47802464	47802464	T	G	exonic	TPRX1	.	nonsynonymous SNV	TPRX1:NM_198479:exon2:c.A547C:p.N183H	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00201700047909	.	0.00159744	0.0025	0	0	0	0	0	0	0.0062	0.000401	62	154602	rs565862733	0.0004	0.0004	0.0002	0.0006	0.0065	0.0004	0.0004	0.0061	0.0059	0	2.877e-05	0	2.869e-05	0	0.0002	4.489e-05	0.0005	0.0065	0.0002	0.0002	0.0002	0.0003	0.0071	0.0002	0.0001	0.0051	0.0045	7.989e-05	0	0	0	0	0	0	0	0	0.0071	0.12	0.27904	T	0.127	0.36101	T	0.117	0.26519	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	0	0.06538	N	0.97	0.42502	T	-0.25	0.12661	N	0.095	0.07535	-1.0580	0.12260	T	0.044	0.18989	T	8	0.003819555	0.00072	T	0.002017	0.03668	T	0.021	0.04004	0.277	0.23004	0.0138822411134	0.00435	0.07182126034545522	0.07119	0.0627670905569	0.06987	0.374797254801	0.21517	T	0.005955	0.07302	T	-0.663983	0.00059	T	-0.723374	0.04634	T	0.0290155054705344	0.01839	T	0.387561	0.20478	T	0.061521187	0.12748	0.06512457	0.13154	0.061521187	0.12747	0.06512457	0.13153	-9.083	0.68229	D	.	.	0.238	0.53846	B	.;.;.	.;.;.	-0.233914	0.02923	0.425	0.2164019746733177	0.00834	0.00063	0.00458	N	AEFBI	0.026550	0.02014	N	-2.43192042321675	0.00023	0.0009879505	-2.53515697672799	0.00019	0.000845184	0.943852554870737	0.27589	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	0.303	-0.607	0.11033	-3.505000	0.00500	-3.693000	0.02601	-4.064000	0.00044	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	.	.	.	912	0.21483	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004480	0.000000	0.000000	0.004032	0.000000	0.000000	0.005000	0.015873	0.07143	642.53	41	chr19	47802464	.	T	G	642.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.16;DP=245;ExcessHet=0;FS=2.524;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.85;ReadPosRankSum=-1.224;SOR=1.138	GT:AD:DP:GQ:PL	0/1:26,24:50:99:653,0,594	6	0	1	0
chr19	48739416	48739416	T	G	exonic	RASIP1	.	nonsynonymous SNV	RASIP1:NM_017805:exon3:c.A367C:p.K123Q	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.167836899474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.073e-07	1.368e-06	1.575e-06	0	9.909e-07	0	0	.	.	0	0	0	0	0	0	9.909e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.37750	T	0.125	0.35330	T	0.652	0.40767	P	0.113	0.31689	B	0.003130	0.35389	N	0.224065	0.993959	0.23615	N	0.695	0.17993	N	3.1	0.08283	T	-1.18	0.30140	N	0.211	0.23506	-0.9713	0.36925	T	0.013	0.05129	T	10	0.1561375	0.29413	T	0.167837	0.84610	D	0.071	0.20720	0.124	0.03018	0.225033846419	0.22103	0.26911885733023766	0.26824	2.79161734065	0.98858	0.928499042988	0.98900	D	0.088577	0.38189	T	-0.336569	0.05629	T	-0.721234	0.04736	T	0.545526444911957	0.34310	D	0.661134	0.27033	T	0.16635531	0.36966	0.1275921	0.30711	0.16635531	0.36965	0.1275921	0.30711	-4.018	0.24072	T	.	.	0.407	0.59986	A	.	.	3.729589	0.53338	23.4	0.99007613948683582	0.50293	0.42886	0.26977	N	AEFDBHCI	0.270078	0.38622	N	-0.131789569322662	0.36013	2.075989	-0.0389238827105896	0.37973	2.230765	0.999999999810542	0.74766	0.495885	0.18260	0	0.491552	0.07993	0	0.608004	0.38603	0	0.581474	0.35302	0	.	.	3.85	3.85	0.43556	0.573000	0.23401	5.638000	0.49139	0.539000	0.25131	0.848000	0.30412	1.000000	0.68203	0.985000	0.61073	0.0:0.0:0.0:1.0	10.901	0.46261	878	0.29785	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	429.27	11	chr19	48739416	.	T	G	429.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.539;DP=132;ExcessHet=0;FS=2.57;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=20.44;ReadPosRankSum=-1.158;SOR=0.991	GT:AD:DP:GQ:PL	0/1:3,18:21:27:439,0,27	5	0	1	1
chr19	49172040	49172040	T	G	exonic	TRPM4	.	nonsynonymous SNV	TRPM4:NM_001321281:exon7:c.T737G:p.L246R,TRPM4:NM_001321283:exon7:c.T560G:p.L187R,TRPM4:NM_001195227:exon9:c.T1082G:p.L361R,TRPM4:NM_017636:exon9:c.T1082G:p.L361R	Progressive familial heart block, type IB, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	178747	Progressive_familial_heart_block_type_IB|Long_QT_syndrome|not_provided|Cardiovascular_phenotype	MONDO:MONDO:0011474,MedGen:C1970298,OMIM:604559,Orphanet:871|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976|MedGen:C3661900|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.871	0.348758731805	0.0003	.	0.0003	0	0.0007	0	0.0005	0.0004	0	0.0001	0.0002846	44	154602	rs148763371	0.0003	0.0003	0.0002	0.0003	0.0019	0.0002	0.0002	0.0011	0.0008	8.961e-05	0.0004	0.0011	0	0.0006	0.0019	0.0002	0.0004	0.0001	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	0.0001	0.0002	0.0001	0	0	0.0002	0.0012	0	9.411e-05	0	0.0003	0.0005	0	0.0	0.91255	D	0.002	0.79402	D	0.998	0.77913	D	0.929	0.73562	D	0.000718	0.42254	D	0.106709	0.916975	0.81001	D	2.795	0.81503	M	-2.42	0.88611	D	-5.3	0.84387	D	0.944	0.96871	0.739	0.93652	D	0.794	0.93025	D	10	0.84981203	0.84156	D	0.348759	0.92212	D	0.871	0.96133	.	.	0.914157380237	0.91329	0.9013274671297112	0.90104	1.14750223707	0.79107	0.767600536346	0.77065	T	0.828808	0.95890	D	0.200863	0.73973	D	0.37871	0.91385	D	0.217138170362845	0.21320	T	0.814719	0.46890	T	0.9254242	0.93781	0.83004063	0.90187	0.9254242	0.93781	0.83004063	0.90188	-11.357	0.83451	D	.	.	0.884	0.82298	P	.;.	.;.	4.444754	0.69046	25.3	0.99696066157032781	0.80316	0.97038	0.72331	D	AEFBI	0.652696	0.62600	D	0.668880069156276	0.77595	6.70508	0.616419395579262	0.76130	6.43496	0.40754168567665	0.20184	0.706548	0.73137	0	0.547309	0.14657	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.77	4.77	0.60425	3.206000	0.50800	7.720000	0.67265	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	12.109	0.53129	733	0.53988	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	556.27	33	chr19	49172040	.	T	G	556.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.574;DP=225;ExcessHet=0;FS=0.979;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.97;ReadPosRankSum=-0.357;SOR=0.892	GT:AD:DP:GQ:PL	0/1:36,26:62:99:566,0,895	5	0	1	1
chr19	49979137	49979137	C	T	exonic	VRK3	.	nonsynonymous SNV	VRK3:NM_001025778:exon13:c.G1232A:p.R411H,VRK3:NM_016440:exon14:c.G1382A:p.R461H	.	422	1097	3	0	0	3	0.0013655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00657438011413	.	0.000998403	0.0006	0	0.0003	0.0002	0	9.02e-05	0.0022	0.0033	0.0004916	76	154602	rs368425122	0.0002	0.0002	0.0001	0.0002	0.0022	0.0002	0.0002	0.0020	0.0019	0	0.0002	0	0.0001	0	0.0003	3.058e-05	0.0004	0.0022	0.0002	0.0002	0.0001	0.0002	0.0033	0.0001	0.0001	0.0021	0.0017	0	0	0.0005	0	0.0004	0	0	1.47e-05	0	0.0033	0.063	0.37750	T	0.154	0.33109	T	0.102	0.25827	B	0.009	0.14300	B	0.008010	0.31069	N	0.305466	1	0.08975	N	2.085	0.57729	M	2.1	0.19990	T	-1.89	0.44094	N	0.182	0.26111	-1.0485	0.14818	T	0.040	0.17106	T	10	0.0070093274	0.00159	T	0.006574	0.17329	T	0.029	0.06676	0.436	0.48828	0.199424873507	0.19547	0.28683792343486614	0.28596	0.182931681064	0.20578	0.21222820878	0.00909	T	0.005487	0.04941	T	-0.546364	0.00307	T	-0.560955	0.16287	T	0.0326267919952983	0.02409	T	0.519848	0.16911	T	0.2219544	0.44784	0.12208161	0.29450	0.2219544	0.44784	0.12208161	0.29449	-4.838	0.36731	T	.	.	0.082	0.10111	B	.;.;.;.;.	.;.;.;.;.	1.384684	0.17965	13.47	0.97669397226215759	0.35247	0.02873	0.07647	N	AEFBI	0.055894	0.10289	N	-0.744449562751051	0.14785	0.7394387	-0.803344611053377	0.14414	0.7530388	1.20011987931937E-4	0.05269	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.711	0.71501	0	.	.	4.82	1.38	0.21262	-0.385000	0.07438	-0.794000	0.07402	-0.171000	0.11205	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.1742:0.6304:0.0:0.1954	4.821	0.12756	687	0.59234	Protein kinase domain;.;Protein kinase domain;.;Protein kinase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1701.53	37	chr19	49979137	.	C	T	1701.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.61;DP=279;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=18.49;ReadPosRankSum=0.239;SOR=0.707	GT:AD:DP:GQ:PL	0/1:23,69:92:99:1712,0,395	6	0	1	0
chr19	50475491	50475491	T	A	exonic	FAM71E1	.	nonsynonymous SNV	FAM71E1:NM_001308429:exon3:c.A373T:p.I125F	.	423	1095	4	0	0	4	0.00182315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00783844012096	.	0.00139776	0.0011	0	0.0002	0	0	0.0002	0	0.0082	0.0007115	110	154602	rs539244786	0.0004	0.0004	0.0002	0.0006	0.0049	0.0004	0.0004	0.0045	0.0044	0	7.098e-05	0.0006	0	2.262e-05	0.0016	8.91e-05	0.0005	0.0049	0.0004	0.0004	0.0003	0.0005	0.0071	0.0003	0.0003	0.0052	0.0046	0	0	0	0.0023	0	0	0.0102	0.0002	0	0.0071	.	.	.	0.721	0.05327	T	0.868	0.47740	P	0.307	0.41295	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	.	.	.	.	.	.	0.392	0.43320	-1.0194	0.23910	T	0.023	0.09696	T	8	0.004296869	0.00086	T	0.007838	0.20798	T	.	.	.	.	0.0716867268079	0.06686	0.4420710418473369	0.44124	.	.	.	.	.	0.006899	0.06325	T	-0.386082	0.02851	T	-0.326678	0.41837	T	0.0207825613872288	0.00778	T	0.273673	0.04648	T	0.035191588	0.04095	0.04287846	0.05207	0.035191588	0.04095	0.04287846	0.05206	-2.321	0.04672	T	.	.	0.178	0.38924	B	.	.	0.648498	0.10169	6.911	0.82300614538284766	0.14121	0.09849	0.15511	N	AEFDBI	0.111661	0.22100	N	-0.531914719333123	0.21055	1.114556	-0.708497826873158	0.16749	0.8874957	0.933039327615356	0.27112	0.718356	0.82227	0	0.573888	0.26702	0	0.570548	0.19454	0	0.567892	0.33627	0	.	.	3.75	0.326	0.15150	0.153000	0.16140	-2.270000	0.03971	0.660000	0.55035	0.004000	0.16614	0.000000	0.08366	0.007000	0.07825	0.0:0.2591:0.235:0.5059	2.953	0.05510	735	0.53711	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	316.46	28	chr19	50475491	.	T	A	316.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.525;DP=201;ExcessHet=0;FS=1.279;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.33;ReadPosRankSum=0.53;SOR=0.976	GT:AD:DP:GQ:PL	0/1:24,14:38:99:327,0,631	6	0	1	0
chr19	52384821	52384821	-	ATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCC	exonic	ZNF880	.	stopgain	ZNF880:NM_001145434:exon4:c.1241_1242insATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCC:p.K415Sfs*2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs779596445	0.0025	0.0048	0.0023	0.0026	0.0055	0.0024	0.0024	0.0049	0.0047	0.0026	0.0023	0.0064	0.0055	0.0054	0.0049	0.0021	0.0039	0.0011	0.0043	0.0060	0.0044	0.0042	0.0054	0.0040	0.0039	0.0044	0.0042	0.0032	0.0046	0.0037	0.0089	0.0041	0.0034	0.0118	0.0048	0.0042	0.0054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1651.65	35	chr19	52384821	.	G	GATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCC	1651.65	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.893;DP=249;ExcessHet=1.1394;FS=53.999;MLEAC=1;MLEAF=0.071;MQ=58.39;MQRankSum=-1.676;QD=12.61;ReadPosRankSum=-1.762;SOR=6.106	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:29,17:46:99:0|1:52384817_T_TTTGGGAGGCCGAGGCGG:626,0,1167:52384817	6	0	1	0
chr19	52950277	52950277	G	C	exonic	ZNF816	.	nonsynonymous SNV	ZNF816:NM_001202456:exon4:c.C1498G:p.H500D,ZNF816:NM_001202457:exon4:c.C1498G:p.H500D,ZNF816:NM_001031665:exon5:c.C1498G:p.H500D	.	399	1105	17	1	0	19	0.008524	.	.	.	705228	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.045	0.00362788389778	0.0012	0.00139776	0.0013	0.0003	0.0022	0	0.0003	0.0017	0.0022	0.0004	0.0012225	189	154602	rs138196750	0.0012	0.0012	0.0012	0.0013	0.0107	0.0012	0.0012	0.0086	0.0078	0.0008	0.0011	0.0032	0	0.0002	0.0107	0.0013	0.0019	0.0003	0.0010	0.0010	0.0010	0.0010	0.0022	0.0009	0.0008	0.0016	0.0014	0.0002	0	0.0022	0.0020	0	0.0002	0.0068	0.0014	0.0005	0.0004	0.002	0.72154	D	0.08	0.41913	T	0.757	0.43436	P	0.646	0.52296	P	.	.	.	.	1	0.81001	D	0.655	0.16177	N	2.25	0.17761	T	-2.98	0.62008	D	0.127	0.12341	-1.0872	0.06013	T	0.028	0.11971	T	9	0.008083284	0.00183	T	0.003628	0.08340	T	0.045	0.12272	.	.	0.177238962908	0.17366	0.10559662276947457	0.10489	0.169767019264	0.19140	0.293520450592	0.09438	T	0.018643	0.14992	T	-0.564599	0.00238	T	-0.597014	0.13063	T	0.065832061411241	0.08053	T	0.90041	0.65400	D	0.238808	0.46763	0.24489272	0.49965	0.238808	0.46763	0.24489272	0.49964	-9.061	0.68089	D	.	.	0.451	0.62251	A	.;.	.;.	1.139371	0.15266	11.72	0.84587570360612363	0.15379	0.24789	0.22502	N	AEFBCI	0.083224	0.16860	N	-0.537344951808491	0.20883	1.10416	-0.717267948479002	0.16531	0.8749261	1.67528249301758E-5	0.02871	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	1.85	1.85	0.24418	0.507000	0.22383	.	.	-0.213000	0.08312	0.015000	0.19116	0.000000	0.08366	0.002000	0.04165	0.0:0.0:0.7239:0.276	6.857	0.23230	994	0.00715	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.008560	0.000000	0.012228	0.008772	0.000000	0.017241	0.006098	0.000000	0.07143	1871.44	68	chr19	52950277	.	G	C	1871.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.283;DP=430;ExcessHet=0;FS=1.329;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.18;ReadPosRankSum=-1.42;SOR=0.872	GT:AD:DP:GQ:PL	0/1:71,71:142:99:1882,0,1886	6	0	1	0
chr19	52950834	52950834	T	C	exonic	ZNF816	.	nonsynonymous SNV	ZNF816:NM_001202456:exon4:c.A941G:p.K314R,ZNF816:NM_001202457:exon4:c.A941G:p.K314R,ZNF816:NM_001031665:exon5:c.A941G:p.K314R	.	393	1116	12	1	0	14	0.0062333	.	.	.	705229	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.108	0.00506407426225	0.0014	0.00139776	0.0013	0.0008	0.0022	0	0.0003	0.0017	0.0022	0.0004	0.0012354	191	154602	rs140118973	0.0012	0.0012	0.0012	0.0013	0.0106	0.0012	0.0012	0.0085	0.0077	0.0010	0.0012	0.0032	0	0.0002	0.0106	0.0013	0.0019	0.0003	0.0011	0.0011	0.0011	0.0011	0.0023	0.0010	0.0009	0.0017	0.0015	0.0005	0	0.0023	0.0020	0	0.0002	0.0068	0.0014	0.0005	0.0004	0.045	0.40832	D	0.058	0.46182	T	0.875	0.48103	P	0.395	0.44317	B	.	.	.	.	0.999999	0.08975	N	1.39	0.34934	L	0.43	0.56772	T	-2.35	0.51968	N	0.04	0.01347	-1.0543	0.13225	T	0.072	0.29130	T	9	0.008570731	0.00194	T	0.005064	0.12815	T	0.108	0.30607	.	.	0.197625483188	0.19356	0.0036884889547903273	0.00344	0.389022359252	0.40154	0.259615778923	0.04845	T	0.009841	0.08928	T	-0.582137	0.00187	T	-0.627991	0.10568	T	0.020516426303965	0.00751	T	0.00713929	0.00031	T	0.04301568	0.06629	0.06939665	0.14618	0.04301568	0.06629	0.06939665	0.14618	-6.858	0.52989	T	.	.	0.105	0.19073	B	.;.	.;.	1.126345	0.15127	11.61	0.99638591045232228	0.76510	0.02693	0.07333	N	AEFBCI	0.063166	0.12187	N	-0.503816358158297	0.21956	1.169005	-0.615396290478316	0.19098	1.023154	1.47748520181312E-5	0.02871	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	1.78	1.78	0.23918	-0.082000	0.11268	.	.	-0.337000	0.05733	0.000000	0.06391	0.000000	0.08366	0.024000	0.12247	0.0:0.0:0.2802:0.7198	5.658	0.16928	994	0.00715	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	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	0.008065	0.000000	0.010870	0.005882	0.000000	0.017241	0.009146	0.000000	0.07143	4107.44	54	chr19	52950834	.	T	C	4107.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.668;DP=654;ExcessHet=0;FS=2.784;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.41;ReadPosRankSum=0.278;SOR=0.566	GT:AD:DP:GQ:PL	0/1:191,169:360:99:4118,0,5213	6	0	1	0
chr19	53449528	53449528	G	A	exonic	ZNF761;ZNF765-ZNF761	.	nonsynonymous SNV	ZNF761:NM_001289953:exon3:c.G32A:p.R11K,ZNF761:NM_001289951:exon4:c.G32A:p.R11K,ZNF761:NM_001289952:exon4:c.G32A:p.R11K,ZNF761:NM_001008401:exon5:c.G32A:p.R11K,ZNF765-ZNF761:NM_001350496:exon12:c.G32A:p.R11K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375	0.21880	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.20129	.	.	.	.	.	.	.	0.10384759	0.19112	T	.	.	.	.	.	.	.	0.251639045875	0.24756	0.057570622064893356	0.05698	.	.	0.384643673897	0.22913	T	0.037191	0.24383	T	-0.0553257	0.43633	T	-0.317248	0.42876	T	.	.	.	0.0226477	0.00250	T	0.038366	0.05099	0.106463574	0.25612	0.038366	0.05098	0.106463574	0.25611	-6.82	0.52708	T	.	.	0.076	0.24599	B	.;.;.;.	.;.;.;.	0.673263	0.10417	7.139	0.90371335229837357	0.19634	0.00866	0.03436	N	AEFBI	.	.	.	.	.	.	.	.	.	1.09274493557264E-5	0.01202	0.322412	0.05557	0	0.30413	0.05452	0	0.331037	0.05861	0	0.221052	0.04502	0	0.117024	0.24315	1.37	-1.41	0.08473	0.491000	0.22128	.	.	0.342000	0.19800	0.062000	0.21832	0.000000	0.08366	0.195000	0.21750	0.4735:0.0:0.251:0.2756	1.778	0.02843	994	0.00715	Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	3438.24	33	chr19	53449528	.	G	A	3438.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.88;DP=530;ExcessHet=0.3476;FS=1.262;MLEAC=2;MLEAF=0.143;MQ=47.11;MQRankSum=0.287;QD=9.29;ReadPosRankSum=2.68;SOR=0.625	GT:AD:DP:GQ:PL	0/1:89,81:170:99:2079,0,2143	5	0	2	0
chr19	54739533	54739533	C	A	exonic	KIR2DL1;KIR2DL2;KIR2DL3;KIR2DS2;KIR2DS3;LOC102725023	.	nonsynonymous SNV	KIR2DS2:NM_001291695:exon2:c.C61A:p.P21T,KIR2DS2:NM_001291696:exon2:c.C61A:p.P21T,KIR2DS2:NM_001291700:exon2:c.C61A:p.P21T,KIR2DS2:NM_001291701:exon2:c.C61A:p.P21T,LOC102725023:NM_001360171:exon2:c.C61A:p.P21T,KIR2DS2:NM_012312:exon2:c.C61A:p.P21T,KIR2DS3:NM_012313:exon2:c.C61A:p.P21T,KIR2DL1:NM_014218:exon2:c.C61A:p.P21T,KIR2DL2:NM_014219:exon2:c.C61A:p.P21T,KIR2DL3:NM_015868:exon2:c.C61A:p.P21T	.	407	439	674	2	0	678	0.435733	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.000629482271791	.	.	1.26e-05	0	0	0	0	0	0	0.0002	0.0001153	3	26028	rs143258060	0.0001	0.0014	0.0001	0.0001	0.0003	0.0001	9.739e-05	0.0002	0.0002	0	0.0002	0	7.578e-05	0.0015	0.0002	4.598e-05	8.31e-05	0.0003	0.0003	0.0064	0.0002	0.0005	0.0007	0.0002	0.0002	0.0004	0.0003	9.821e-05	0	0.0007	0	0.0002	0.0010	0	0.0003	0	0.0004	0.0	0.91255	D	0.05	0.48080	T	0.039	0.21116	B	0.022	0.19653	B	.	.	.	.	1	0.08975	N	1.675	0.43121	L	7.25	0.00428	T	-2.83	0.59710	D	0.057	0.02861	-0.7967	0.55338	T	0.003	0.00929	T	9	0.04721421	0.04010	T	6.29E-4	0.00319	T	0.067	0.19503	0.275	0.22687	0.333906830038	0.33007	0.11003837353837338	0.10932	3.22852605899	0.99523	.	.	.	0.024485	0.18493	T	-0.40546	0.02131	T	-0.633654	0.10139	T	0.262085987067051	0.23406	T	.	.	.	0.08533072	0.19789	0.12122417	0.29249	0.08533072	0.19789	0.12122417	0.29248	-6.294	0.48674	T	.	.	0.091	0.13268	B	.	.	-0.337065	0.02459	0.283	0.40733743298301972	0.02894	0.00183	0.01069	N	AEFDGBI	0.020550	0.00823	N	-1.61360564278005	0.01198	0.05208234	-1.880969786367	0.00533	0.02366577	0.225960784001686	0.18410	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.418	-0.836	0.10225	-1.270000	0.02939	.	.	-4.224000	0.00037	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3954:0.2043:0.1975:0.2028	0.314	0.00272	964	0.07719	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4286	5690.48	294	chr19	54739533	.	C	A	5690.48	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-0.49;DP=1770;ExcessHet=8.2628;FS=0;MLEAC=6;MLEAF=0.429;MQ=55.69;MQRankSum=1.86;QD=3.35;ReadPosRankSum=1.3;SOR=0.752	GT:AD:DP:GQ:PL	0/1:352,114:466:99:1834,0,10660	1	0	6	0
chr19	54752378	54752378	A	T	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.A885T:p.E295D	.	438	644	313	127	0	567	0.30566	.	.	.	4025410	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.053	0.000595427967978	.	.	.	.	.	.	.	.	.	.	0.0002689	7	26028	rs76449138	0.0004	0.0045	0.0003	0.0006	0.0014	0.0004	0.0004	0.0012	0.0011	0.0009	0.0007	0.0004	0.0002	0.0006	0	0.0003	0.0006	0.0014	0.0004	0.0045	0.0004	0.0003	0.0008	0.0003	0.0003	0.0006	0.0005	0.0008	0	0.0004	0.0003	0	0.0003	0	0.0002	0	0.0006	0.017	0.51248	D	0.362	0.16865	T	0.009	0.15093	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	1.605	0.40863	L	7.17	0.00438	T	-1.3	0.32590	N	0.03	0.00717	-0.9072	0.47191	T	0.003	0.00800	T	9	0.06407854	0.08444	T	5.95E-4	0.00260	T	0.053	0.14996	0.345	0.33950	0.315609569513	0.31162	0.055351736594923893	0.05476	0.156621518827	0.17680	.	.	.	0.006609	0.06037	T	-0.243919	0.14853	T	-0.588149	0.13826	T	0.1719860881567	0.18714	T	.	.	.	0.072928816	0.16260	0.055293426	0.09672	0.072928816	0.16260	0.055293426	0.09672	-5.957	0.45918	T	.	.	0.102	0.17785	B	.	.	0.393611	0.07651	4.319	0.83992659330197972	0.15036	0.00398	0.01994	N	AEFI	0.034546	0.04300	N	-1.14210111889885	0.05910	0.2707387	-1.35039455156555	0.03801	0.1780508	3.36295698448585E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.06	-1.94	0.07158	0.608000	0.23921	.	.	0.538000	0.25075	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3959:0.0:0.0:0.6041	4.008	0.09100	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.3571	7320.09	202	chr19	54752378	.	A	T	7320.09	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-4.423;DP=1708;ExcessHet=0.4813;FS=0;MLEAC=5;MLEAF=0.357;MQ=55.45;MQRankSum=-20.94;QD=5.89;ReadPosRankSum=1.67;SOR=0.675	GT:AD:DP:GQ:PL	0/1:349,146:495:99:2682,0,9310	3	1	3	0
chr19	54752434	54752434	G	C	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.G941C:p.R314T	.	440	676	290	116	0	522	0.278549	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.000504783109797	.	.	9.107e-06	0	0	0	0	1.648e-05	0	0	0	0	26028	rs369659451	0.0001	0.0011	8.786e-05	0.0001	0.0006	0.0001	9.738e-05	0.0005	0.0004	0.0003	0.0001	0	0	0.0002	0.0002	8.061e-05	0.0001	0.0006	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.005	0.63226	D	0.336	0.18232	T	0.038	0.21002	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	2.005	0.54552	M	7.21	0.00433	T	-1.76	0.41618	N	0.15	0.15328	-0.9578	0.39589	T	0.001	0.00438	T	9	0.055743694	0.06139	T	5.05E-4	0.00153	T	0.018	0.03083	0.358	0.36060	0.197625483188	0.19356	0.07934385317345088	0.07869	0.381999604534	0.39540	.	.	.	0.008653	0.07927	T	-0.372433	0.03472	T	-0.772751	0.02679	T	0.0711279924993857	0.08808	T	.	.	.	0.058790613	0.11869	0.056505527	0.10109	0.058790613	0.11869	0.056505527	0.10109	-8.83	0.66596	D	.	.	0.103	0.18456	B	.	.	-0.693291	0.01336	0.074	0.50922294396745071	0.04470	0.00271	0.01473	N	AEFI	0.037209	0.05083	N	-1.83575514742651	0.00463	0.01994319	-2.00237195100838	0.00303	0.01337074	0.00114747052574219	0.08272	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.06	-2.12	0.06766	-2.589000	0.00974	.	.	-2.077000	0.00405	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2846:0.2349:0.4805:0.0	4.380	0.10722	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3571	9562.09	240	chr19	54752434	.	G	C	9562.09	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-0.957;DP=1961;ExcessHet=0.4813;FS=8.564;MLEAC=5;MLEAF=0.357;MQ=56.48;MQRankSum=-23.55;QD=6.43;ReadPosRankSum=2.55;SOR=1.069	GT:AD:DP:GQ:PL	0/1:446,142:588:99:3525,0,11814	3	1	3	0
chr19	54752445	54752445	C	T	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.C952T:p.R318C	.	444	649	317	112	0	541	0.294182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.000730226801608	.	.	.	.	.	.	.	.	.	.	.	.	.	rs372921221	7.35e-05	0.0008	5.213e-05	9.518e-05	0.0004	6.171e-05	5.67e-05	0.0003	0.0002	0.0004	0.0001	4.416e-05	2.548e-05	0.0001	0	4.228e-05	3.658e-05	0.0004	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.021	0.49117	D	0.101	0.38596	T	0.006	0.13644	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	1.61	0.41143	L	7.14	0.00441	T	-1.73	0.41046	N	0.081	0.05670	-0.9462	0.41615	T	0.001	0.00318	T	9	0.07376027	0.11187	T	7.3E-4	0.00491	T	0.046	0.12618	.	.	0.190952846119	0.18690	0.08507494458604588	0.08441	0.272347824251	0.29747	.	.	.	0.006919	0.06344	T	-0.301136	0.08553	T	-0.670337	0.07586	T	0.0816786993696317	0.10202	T	.	.	.	0.06286794	0.13178	0.048082765	0.07066	0.06286794	0.13177	0.048082765	0.07066	-8.692	0.65693	D	.	.	0.085	0.10159	B	.	.	0.663279	0.10314	7.048	0.77161828724750081	0.11761	0.00606	0.02697	N	AEFI	0.056180	0.10365	N	-1.90787109037655	0.00331	0.01420744	-2.03030551184277	0.00264	0.01165071	5.65618134037242E-5	0.04171	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.909	-1.82	0.07433	-0.238000	0.08995	.	.	-1.505000	0.01024	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2329:0.4799:0.2873:0.0	4.091	0.09446	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3571	11422.1	250	chr19	54752445	.	C	T	11422.1	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-0.166;DP=2001;ExcessHet=0.4813;FS=10.314;MLEAC=5;MLEAF=0.357;MQ=56.74;MQRankSum=-23.95;QD=7.48;ReadPosRankSum=0.898;SOR=1.243	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:465,137:602:99:0|1:54752445_C_T:4304,0,18986:54752445	3	1	3	0
chr19	54752485	54752485	T	C	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.T992C:p.I331T	.	458	776	181	107	0	395	0.202876	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.000598353408358	.	.	.	.	.	.	.	.	.	.	.	.	.	rs781524573	5.305e-06	0.0001	4.511e-06	6.112e-06	2.86e-05	2.21e-06	1.42e-06	4.75e-06	1.78e-06	0	0	0	0	5.995e-05	0	1.979e-06	0	2.86e-05	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.744	0.03653	T	0.196	0.27943	T	0.001	0.07471	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	1.075	0.27130	L	7.07	0.00449	T	1.38	0.00857	N	0.023	0.00407	-0.9420	0.42298	T	0.001	0.00318	T	9	0.04724872	0.04019	T	5.98E-4	0.00274	T	0.014	0.01968	0.471	0.54537	0.15556083564	0.15200	0.03272981040342714	0.03220	0.11650274929	0.13144	.	.	.	0.002103	0.01509	T	-0.435909	0.01367	T	-0.863929	0.00802	T	0.0462318255409502	0.04826	T	.	.	.	0.029743398	0.02519	0.04760247	0.06891	0.029743398	0.02518	0.04760247	0.06890	-0.729	0.00744	T	.	.	0.056	0.00487	B	.	.	-0.452449	0.02024	0.181	0.28219194255820729	0.01438	0.00196	0.01131	N	AEFI	0.020637	0.00835	N	-1.78857713604755	0.00574	0.02471146	-1.87148925175353	0.00557	0.02469536	2.05976653641204E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.909	-0.268	0.12295	-0.692000	0.05228	.	.	-3.068000	0.00129	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3083:0.394:0.2977	3.096	0.05931	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3571	5775.09	228	chr19	54752485	.	T	C	5775.09	.	AC=5;AF=0.357;AN=14;BaseQRankSum=7.34;DP=1552;ExcessHet=0.4813;FS=32.255;MLEAC=5;MLEAF=0.357;MQ=57.04;MQRankSum=-23.15;QD=4.11;ReadPosRankSum=-3.734;SOR=2.962	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:465,87:552:99:0|1:54752482_T_C:2254,0,19096:54752482	3	1	3	0
chr19	54752511	54752511	G	A	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.G1018A:p.E340K	.	471	887	74	90	0	254	0.125247	.	.	.	2330855	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.023	0.00058277682123	.	.	.	.	.	.	.	.	.	.	.	.	.	rs878939548	6.015e-06	0.0002	4.476e-06	7.577e-06	2.785e-05	2.59e-06	1.87e-06	4.62e-06	1.73e-06	0	0	0	0	3.975e-05	0	3.938e-06	0	2.785e-05	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.169	0.22920	T	0.141	0.33442	T	0.014	0.16867	B	0.053	0.25678	B	.	.	.	.	1	0.08975	N	1.56	0.39490	L	7.23	0.00430	T	-1.59	0.38345	N	0.036	0.01068	-0.9636	0.38488	T	0.002	0.00707	T	9	0.048668027	0.04349	T	5.83E-4	0.00246	T	0.023	0.04649	0.359	0.36222	0.201204373187	0.19734	0.14158577538071196	0.14081	0.485544564949	0.47430	.	.	.	0.006937	0.06364	T	-0.364647	0.03874	T	-0.761566	0.03056	T	0.472253292798996	0.31613	T	.	.	.	0.035863034	0.04304	0.048440736	0.07194	0.035863034	0.04303	0.048440736	0.07193	-4.19	0.26607	T	.	.	0.087	0.11317	B	.	.	-0.236831	0.02908	0.420	0.60687808817287325	0.06524	0.00049	0.00384	N	AEFI	0.023028	0.01229	N	-1.55887154151576	0.01484	0.06475221	-1.76960007506711	0.00862	0.03850489	6.95773214814763E-5	0.04366	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.909	-1.82	0.07433	-1.609000	0.02169	.	.	-1.067000	0.01603	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5547:0.0:0.4453:0.0	6.337	0.20509	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2857	2354.11	198	chr19	54752511	.	G	A	2354.11	.	AC=4;AF=0.286;AN=14;BaseQRankSum=5.29;DP=917;ExcessHet=0.0921;FS=50.49;MLEAC=4;MLEAF=0.286;MQ=57.33;MQRankSum=-13.01;QD=3.34;ReadPosRankSum=-1.291;SOR=4.606	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:427,51:478:99:0|1:54752511_G_A:857,0,17516:54752511	4	1	2	0
chr19	54760643	54760643	A	G	exonic	LOC112267881	.	unknown	UNKNOWN	.	418	697	407	0	0	407	0.225986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1259531898	0.0011	0.0091	0.0010	0.0012	0.0039	0.0011	0.0010	0.0035	0.0034	0.0015	0.0031	0.0054	0.0008	0.0008	0.0022	0.0007	0.0013	0.0039	0.0012	0.0099	0.0011	0.0014	0.0034	0.0011	0.0010	0.0020	0.0016	0.0020	0	0.0023	0.0020	0.0008	0.0010	0.0036	0.0005	0.0010	0.0034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	3983.16	247	chr19	54760643	.	A	G	3983.16	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-2.095;DP=1331;ExcessHet=2.5225;FS=2.698;MLEAC=4;MLEAF=0.286;MQ=53.69;MQRankSum=-6.991;QD=3.24;ReadPosRankSum=-0.249;SOR=0.576	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:491,80:571:99:0|1:54760643_A_G:1881,0,19976:54760643	3	0	4	0
chr19	54760651	54760651	G	C	exonic	LOC112267881	.	unknown	UNKNOWN	.	415	680	427	0	0	427	0.238948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1341664073	1.26e-05	0.0001	6.969e-06	1.828e-05	0.0002	7.87e-06	6.5e-06	7.234e-05	5.562e-05	0.0002	2.285e-05	0	0	0	0	9.212e-07	0	0.0001	2.732e-05	0.0006	1.334e-05	4.198e-05	0.0001	8.38e-06	5.3e-06	3.332e-05	1.97e-05	0.0001	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	4778.14	244	chr19	54760651	.	G	C	4778.14	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-3.015;DP=1348;ExcessHet=2.5225;FS=2.542;MLEAC=4;MLEAF=0.286;MQ=54.16;MQRankSum=-7.126;QD=3.82;ReadPosRankSum=-0.028;SOR=0.514	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:489,90:579:99:0|1:54760643_A_G:2307,0,20171:54760643	3	0	4	0
chr19	54760665	54760665	T	C	exonic	LOC112267881	.	unknown	UNKNOWN	.	418	625	479	0	0	479	0.277039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1162810689	1.118e-05	5.691e-05	8.35e-06	1.404e-05	0.0002	6.62e-06	5.36e-06	0.0001	8.77e-05	0	2.281e-05	0	0	0	0	0	0	0.0002	0	7.312e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	5513.14	244	chr19	54760665	.	T	C	5513.14	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-3.812;DP=1350;ExcessHet=2.5225;FS=0.726;MLEAC=4;MLEAF=0.286;MQ=54.82;MQRankSum=-7.67;QD=4.38;ReadPosRankSum=1.99;SOR=0.582	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:488,97:585:99:0|1:54760643_A_G:2604,0,20199:54760643	3	0	4	0
chr19	54760676	54760676	T	A	exonic	LOC112267881	.	unknown	UNKNOWN	.	427	600	495	0	0	495	0.292035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1252325157	1.398e-05	8.023e-05	9.746e-06	1.826e-05	0.0002	9.13e-06	7.42e-06	0.0001	0.0001	0	2.283e-05	0	0	0	0	0	1.692e-05	0.0002	0	7.986e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	5599.14	246	chr19	54760676	.	T	A	5599.14	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-4.497;DP=1318;ExcessHet=2.5225;FS=0.718;MLEAC=4;MLEAF=0.286;MQ=55.59;MQRankSum=-8.13;QD=4.56;ReadPosRankSum=2.2;SOR=0.543	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:459,97:556:99:0|1:54760643_A_G:2691,0,18981:54760643	3	0	4	0
chr19	54760692	54760692	A	G	exonic	LOC112267881	.	unknown	UNKNOWN	.	419	580	521	2	0	525	0.311573	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1411892976	4.767e-05	0.0002	3.349e-05	6.197e-05	0.0006	3.82e-05	3.496e-05	0.0004	0.0004	0	2.29e-05	0	0	0	0.0002	1.384e-05	6.786e-05	0.0006	0	9.992e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	5802.16	226	chr19	54760692	.	A	G	5802.16	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-4.104;DP=1265;ExcessHet=2.5225;FS=1.486;MLEAC=4;MLEAF=0.286;MQ=56.08;MQRankSum=-8.859;QD=4.93;ReadPosRankSum=2.95;SOR=0.538	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:437,98:535:99:0|1:54760643_A_G:2800,0,18048:54760643	3	0	4	0
chr19	54760695	54760695	T	C	exonic	LOC112267881	.	unknown	UNKNOWN	.	420	579	521	2	0	525	0.311943	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1406047822	3.998e-05	0.0001	2.094e-05	5.918e-05	0.0006	3.124e-05	2.853e-05	0.0005	0.0004	0	2.291e-05	0	0	0	0	0	5.092e-05	0.0006	0	9.996e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	5832.16	226	chr19	54760695	.	T	C	5832.16	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-3.886;DP=1269;ExcessHet=2.5225;FS=1.497;MLEAC=4;MLEAF=0.286;MQ=56.09;MQRankSum=-8.859;QD=5;ReadPosRankSum=2.92;SOR=0.528	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:432,98:530:99:0|1:54760643_A_G:2815,0,17833:54760643	3	0	4	0
chr19	54775428	54775428	T	C	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.T634C:p.S212P,KIR2DL1:NM_014218:exon4:c.T634C:p.S212P,KIR2DS1:NM_014512:exon4:c.T634C:p.S212P,KIR2DS5:NM_014513:exon4:c.T634C:p.S212P	.	426	994	102	0	0	102	0.0488038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.00119730649929	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1219946054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.693	0.04643	T	1.0	0.01155	T	0.002	0.09854	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	5.92	0.00621	T	4.32	0.00042	N	0.054	0.03841	-0.9543	0.40221	T	0.001	0.00318	T	9	0.048239112	0.04248	T	0.001197	0.01558	T	0.041	0.10877	0.381	0.39807	0.124217242631	0.12060	0.09862332896415132	0.09793	3.5385108973	0.99787	0.337671220303	0.16090	T	0.020959	0.16408	T	-0.296781	0.08966	T	-0.664082	0.07993	T	0.037209109262974	0.03193	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.00234	B	.;.	.;.	-0.377649	0.02298	0.242	0.20061086774987852	0.00705	0.00014	0.00181	N	AEFBI	0.017768	0.00489	N	-2.16889315936069	0.00090	0.003848594	-2.13850442775353	0.00153	0.006750525	1.85327816143771E-6	0.01202	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.1	-0.0517	0.13155	0.152000	0.16120	.	.	-2.805000	0.00184	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7488:0.0:0.2512	5.420	0.15691	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	51.44	288	chr19	54775428	.	T	C	51.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=4.89;DP=1760;ExcessHet=0;FS=6.071;MLEAC=1;MLEAF=0.071;MQ=57.11;MQRankSum=-1.985;QD=0.07;ReadPosRankSum=0.722;SOR=1.119	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:723,54:777:62:0|1:54775425_A_G:62,0,29974:54775425	6	0	1	0
chr19	54778623	54778623	A	C	exonic	KIR2DL1;KIR2DL2;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon5:c.A676C:p.N226H,KIR2DL1:NM_014218:exon5:c.A676C:p.N226H,KIR2DL2:NM_014219:exon5:c.A676C:p.N226H	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.00151694013669	.	.	.	.	.	.	.	.	.	.	1.94e-05	3	154602	rs878909395	0.0002	0.0007	0.0001	0.0004	0.0041	0.0002	0.0002	0.0037	0.0036	6.174e-05	0	0	0	0	0.0004	2.774e-06	0.0002	0.0041	0.0005	0.0007	0.0003	0.0007	0.0163	0.0004	0.0004	0.0133	0.0122	0	0	0	0	0	0	0	1.521e-05	0	0.0163	0.032	0.46129	D	0.068	0.44106	T	0.003	0.11197	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	.	.	.	7.2	0.00437	T	-1.71	0.40660	N	0.135	0.14480	-0.9464	0.41582	T	0.002	0.00497	T	8	0.007816225	0.00177	T	0.001517	0.02369	T	0.086	0.25016	0.202	0.11659	0.210429274316	0.20668	0.05328788543094235	0.05270	2.46387727901	0.97434	0.387758374214	0.23353	T	0.02304	0.17656	T	-0.241123	0.15206	T	-0.584133	0.14177	T	0.165323646165335	0.18256	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.08609	B	.;.	.;.	0.676890	0.10455	7.172	0.90949609105773266	0.20198	0.00298	0.01590	N	AEFBI	0.037202	0.05080	N	-1.25996812375637	0.04169	0.1876777	-1.47659125624119	0.02537	0.1168652	4.3534079721304E-6	0.01202	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.569	-0.824	0.10266	1.149000	0.31238	.	.	-0.361000	0.05505	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	.	.	.	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1202.44	177	chr19	54778623	.	A	C	1202.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.245;DP=1168;ExcessHet=0;FS=1.794;MLEAC=1;MLEAF=0.071;MQ=52.41;MQRankSum=-8.94;QD=2.37;ReadPosRankSum=1.75;SOR=0.956	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:444,63:507:99:0|1:54778623_A_C:1213,0,17928:54778623	6	0	1	0
chr19	54778635	54778635	T	G	exonic	KIR2DL1;KIR2DL2;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon5:c.T688G:p.S230A,KIR2DL1:NM_014218:exon5:c.T688G:p.S230A,KIR2DL2:NM_014219:exon5:c.T688G:p.S230A	.	422	1098	2	0	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.00119571320954	.	.	.	.	.	.	.	.	.	.	.	.	.	rs556830915	0.0003	0.0007	0.0001	0.0004	0.0042	0.0002	0.0002	0.0039	0.0037	3.087e-05	0	0	0	0	0.0004	9.246e-07	0.0002	0.0042	0.0005	0.0007	0.0003	0.0007	0.0167	0.0004	0.0004	0.0137	0.0126	0	0	0	0	0	0	0	1.521e-05	0	0.0167	0.0	0.91255	D	0.222	0.25748	T	0.937	0.52445	P	0.695	0.53983	P	.	.	.	.	1	0.08975	N	.	.	.	7.15	0.00440	T	-1.21	0.35597	N	0.126	0.13769	-0.9477	0.41364	T	0.003	0.00864	T	8	0.013478994	0.00286	T	0.001196	0.01533	T	0.030	0.07022	0.301	0.26843	0.393927044628	0.39002	0.03714688347856771	0.03661	1.75585914569	0.91042	0.386773377657	0.23213	T	0.022783	0.17502	T	-0.217446	0.18342	T	-0.550122	0.17315	T	0.18637554833915	0.19628	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.13127	B	.;.	.;.	1.705097	0.21718	15.32	0.90821795015436779	0.20070	0.00184	0.01074	N	AEFBI	0.037914	0.05286	N	-0.64319559175856	0.17659	0.9105616	-0.965880461190126	0.10557	0.5324558	2.02422257672135E-6	0.01202	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.569	-0.842	0.10204	-0.430000	0.07043	.	.	0.421000	0.20799	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	.	.	.	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1166.44	177	chr19	54778635	.	T	G	1166.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.3;DP=1183;ExcessHet=0;FS=1.82;MLEAC=1;MLEAF=0.071;MQ=52.7;MQRankSum=-9.225;QD=2.22;ReadPosRankSum=0.665;SOR=1.045	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:462,63:525:99:0|1:54778623_A_C:1177,0,18733:54778623	6	0	1	0
chr19	54804844	54804844	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A128G:p.Q43R,KIR2DL4:NM_001080772:exon3:c.A128G:p.Q43R	.	401	1030	89	2	0	93	0.0431955	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.00113660302036	.	.	.	.	.	.	.	.	.	.	0.0003074	8	26028	rs867586202	1.369e-06	2.737e-06	0	2.752e-06	2.995e-05	2.3e-07	9e-08	.	.	2.995e-05	0	0	0	0	0	0	0	1.164e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.171	0.23997	T	0.596	0.08052	T	0.005	0.12996	B	0.004	0.14941	B	0.135009	0.02839	U	2.391850	1	0.08975	N	0.575	0.15311	N	2.65	0.12676	T	-1.42	0.38540	N	0.098	0.10769	-1.0000	0.29917	T	0.021	0.08778	T	10	0.07379338	0.11196	T	0.001137	0.01410	T	0.004	0.00165	.	.	0.117191471859	0.11215	0.2764269249833639	0.27555	1.63837144597	0.89330	.	.	.	.	.	.	-0.375957	0.03303	T	-0.777812	0.02520	T	0.0943192406486319	0.11720	T	.	.	.	.	.	.	.	.	.	.	.	-6.927	0.54645	T	.	.	0.067	0.04002	B	.;.;.;.	.;.;.;.	-1.101816	0.00638	0.017	0.44240031913180755	0.03387	0.00284	0.01530	N	AEFDBI	0.054807	0.09996	N	-1.5917883983119	0.01306	0.05686907	-1.68956066485271	0.01184	0.05329264	2.77527207762171E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.14	-1.57	0.08055	-2.911000	0.00765	.	.	-4.062000	0.00044	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.404:0.3002:0.0:0.2958	2.076	0.03404	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	213.29	34	chr19	54804844	.	A	G	213.29	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.09;DP=565;ExcessHet=0.3476;FS=1.05;MLEAC=2;MLEAF=0.143;MQ=58.81;MQRankSum=-5.425;QD=0.51;ReadPosRankSum=0.433;SOR=1.036	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:351,27:378:72:0|1:54804844_A_G:72,0,14372:54804844	5	0	2	0
chr19	54804865	54804865	G	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.G149T:p.R50L,KIR2DL4:NM_001080772:exon3:c.G149T:p.R50L	.	399	1022	98	3	0	104	0.0484171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.0010606096064	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs377230503	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.578e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.129	0.26852	T	0.099	0.43344	T	0.001	0.17573	B	0.009	0.25828	B	0.006549	0.01130	U	4.963860	1	0.08975	N	0.87	0.21467	L	2.62	0.12988	T	-3.67	0.70553	D	0.243	0.32259	-0.9992	0.30143	T	0.029	0.12453	T	10	0.2224595	0.38999	T	0.001061	0.01215	T	0.028	0.06331	.	.	0.110392049598	0.10638	0.28005680441547837	0.27918	1.86795582778	0.92482	.	.	.	.	.	.	-0.326378	0.06390	T	-0.706596	0.05473	T	0.0639145414373501	0.07769	T	.	.	.	.	.	.	.	.	.	.	.	-8.044	0.61370	D	.	.	0.138	0.32756	B	.;.;.;.	.;.;.;.	0.035535	0.04534	1.227	0.73877348709050461	0.10488	0.00388	0.01954	N	AEFDBI	0.065265	0.12721	N	-1.54790257383302	0.01547	0.06756762	-1.67935926748713	0.01231	0.05548239	8.43516041031511E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.41	-2.81	0.05459	-0.685000	0.05269	.	.	-3.641000	0.00069	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.6012:0.0:0.3988:0.0	5.745	0.17382	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	218.25	139	chr19	54804865	.	G	T	218.25	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.71;DP=717;ExcessHet=0.3476;FS=5.594;MLEAC=2;MLEAF=0.143;MQ=58.89;MQRankSum=-10.93;QD=0.47;ReadPosRankSum=1.2;SOR=1.349	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:388,29:417:50:0|1:54804865_G_T:50,0,16117:54804865	5	0	2	0
chr19	54804898	54804898	C	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.C182G:p.T61R,KIR2DL4:NM_001080772:exon3:c.C182G:p.T61R	.	407	1007	105	3	0	111	0.0522353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.000577800184532	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1347429978	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.973e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.156	0.30235	T	0.417	0.14241	T	0.008	0.14655	B	0.014	0.16862	B	0.370126	0.04357	N	1.761550	1	0.08975	N	0.19	0.09125	N	2.61	0.13095	T	-0.99	0.33798	N	0.166	0.17553	-1.0466	0.15361	T	0.034	0.14726	T	10	0.06646973	0.09122	T	5.78E-4	0.00246	T	0.004	0.00165	.	.	0.123314135267	0.11883	0.2663305671272793	0.26546	1.74321032565	0.90897	.	.	.	.	.	.	-0.374164	0.03389	T	-0.775237	0.02600	T	0.172755304063972	0.18765	T	.	.	.	.	.	.	.	.	.	.	.	-4.633	0.32583	T	.	.	0.133	0.28807	B	.;.;.;.	.;.;.;.	-1.551279	0.00265	0.004	0.59469541163751893	0.06232	0.00075	0.00520	N	AEFDBI	0.026301	0.01950	N	-1.68316153543223	0.00903	0.03908699	-1.84995237698743	0.00612	0.0271986	3.44450744240821E-4	0.06626	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-5.169000	0.00171	.	.	-4.106000	0.00042	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2563:0.3734:0.3703:0.0	4.699	0.12201	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	276.24	153	chr19	54804898	.	C	G	276.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.76;DP=993;ExcessHet=0.3476;FS=7.56;MLEAC=2;MLEAF=0.143;MQ=58.83;MQRankSum=-11.57;QD=0.54;ReadPosRankSum=1.42;SOR=1.548	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:433,33:466:82:0|1:54804898_C_G:82,0,18082:54804898	5	0	2	0
chr19	54804909	54804909	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A193G:p.K65E,KIR2DL4:NM_001080772:exon3:c.A193G:p.K65E	.	408	993	118	3	0	124	0.0587678	.	.	.	2687379	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.028	0.000710582739585	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1433721372	2.738e-06	4.105e-06	0	5.504e-06	2.237e-05	6.4e-07	4.3e-07	3e-07	1.1e-07	0	2.237e-05	3.843e-05	0	0	0	1.799e-06	0	0	1.988e-05	4.605e-05	1.295e-05	2.717e-05	0.0001	5.29e-06	2.47e-06	2.279e-05	9.14e-06	0	0	0.0001	0	0	0	0	0	0.0005	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.812499	0.09241	N	0.855387	1	0.08975	N	-2.415	0.00072	N	6.0	0.00603	T	1.89	0.00694	N	0.066	0.07262	-0.9319	0.43859	T	0.001	0.00188	T	10	0.020792723	0.00485	T	7.11E-4	0.00454	T	0.028	0.06331	.	.	0.102598925029	0.09809	0.08210962773506171	0.08145	2.0043789819	0.93871	.	.	.	.	.	.	-0.398459	0.02370	T	-0.810135	0.01662	T	0.0787104400289306	0.09821	T	.	.	.	.	.	.	.	.	.	.	.	1.118	0.00118	T	.	.	0.052	0.01449	B	.;.;.;.	.;.;.;.	-0.896903	0.00931	0.035	0.38092024155450582	0.02549	0.00009	0.00143	N	AEFBI	0.020365	0.00798	N	-1.95943119732616	0.00258	0.01107597	-1.91051840260318	0.00467	0.02066344	2.13546506143977E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-1.41	0.08473	0.022000	0.13402	.	.	-1.236000	0.01320	0.005000	0.17040	0.000000	0.08366	0.000000	0.00833	0.4688:0.0:0.5312:0.0	3.979	0.08979	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.2143	530.72	150	chr19	54804909	.	A	G	530.72	.	AC=3;AF=0.214;AN=14;BaseQRankSum=1.23;DP=1002;ExcessHet=1.1394;FS=6.879;MLEAC=3;MLEAF=0.214;MQ=58.67;MQRankSum=-11.58;QD=0.79;ReadPosRankSum=0.273;SOR=1.603	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:429,37:466:99:0|1:54804898_C_G:262,0,17825:54804898	4	0	3	0
chr19	54804943	54804943	G	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.G227A:p.R76K,KIR2DL4:NM_001080772:exon3:c.G227A:p.R76K	.	415	972	132	3	0	138	0.0662824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.000742101611331	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs1258790404	0	4.105e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	3.948e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.706	0.15201	T	0.895	0.03223	T	0.0	0.02946	B	0.001	0.08700	B	0.590161	0.05587	N	1.384300	1	0.08975	N	1.445	0.36358	L	2.74	0.11730	T	-0.98	0.27259	N	0.051	0.07535	-0.9692	0.37366	T	0.025	0.10733	T	10	0.066293925	0.09070	T	7.42E-4	0.00510	T	0.022	0.04323	.	.	0.143184338766	0.13958	0.10200965388074774	0.10131	1.54987763219	0.87883	.	.	.	.	.	.	-0.328421	0.06231	T	-0.70953	0.05319	T	0.0564412906346426	0.06597	T	.	.	.	.	.	.	.	.	.	.	.	-7.075	0.54580	T	.	.	0.117	0.27968	B	.;.;.;.	.;.;.;.	-0.709399	0.01299	0.070	0.67373079492482224	0.08335	0.00141	0.00861	N	AEFBI	0.044050	0.07041	N	-1.32507690532281	0.03391	0.1513701	-1.48749976679391	0.02446	0.1125302	6.30285219020309E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-1.506000	0.02375	.	.	-0.368000	0.05462	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1859:0.238:0.3354:0.2407	0.540	0.00600	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2143	1497.72	163	chr19	54804943	.	G	A	1497.72	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-0.1;DP=1029;ExcessHet=1.1394;FS=7.39;MLEAC=3;MLEAF=0.214;MQ=58.37;MQRankSum=-12.34;QD=2.2;ReadPosRankSum=-2.799;SOR=1.363	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:406,50:456:99:.:.:727,0,11229:.	4	0	3	0
chr19	54804956	54804956	C	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.C240G:p.N80K,KIR2DL4:NM_001080772:exon3:c.C240G:p.N80K	.	414	957	149	2	0	153	0.0740203	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.000820155030123	.	.	3.423e-05	0.0003	0	0	0	0	0	0	.	.	.	rs762567496	6.845e-07	4.789e-06	1.362e-06	0	2.995e-05	0	0	.	.	2.995e-05	0	0	0	0	0	0	0	0	1.99e-05	0.0001	2.59e-05	1.36e-05	7.371e-05	5.29e-06	2.47e-06	1.954e-05	1.042e-05	7.371e-05	0	0	0	0	0	0	0	0	0	0.412	0.13699	T	0.845	0.05146	T	0.001	0.07471	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	-0.44	0.02835	N	5.79	0.00674	T	-1.03	0.27052	N	0.095	0.07535	-0.9430	0.42137	T	0.002	0.00556	T	9	0.044601202	0.03435	T	8.2E-4	0.00670	T	0.003	0.00094	.	.	0.128874641272	0.12493	0.10159306631719821	0.10090	1.72089044569	0.90581	.	.	.	.	.	.	-0.575811	0.00204	T	-0.864535	0.00796	T	0.016738042965368	0.00430	T	.	.	.	.	.	.	.	.	.	.	.	-3.17	0.12117	T	.	.	0.179	0.45895	B	.;.;.;.	.;.;.;.	-1.083170	0.00661	0.018	0.50719520210572711	0.04434	0.00148	0.00897	N	AEFBI	0.040604	0.06062	N	-1.66740233317036	0.00964	0.04176982	-1.76943638965084	0.00862	0.03853214	7.24329605389925E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-3.415000	0.00532	.	.	-3.993000	0.00048	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2368:0.2927:0.4706:0.0	4.378	0.10712	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2143	1753.72	167	chr19	54804956	.	C	G	1753.72	.	AC=3;AF=0.214;AN=14;BaseQRankSum=0.933;DP=1017;ExcessHet=1.1394;FS=5.393;MLEAC=3;MLEAF=0.214;MQ=58.43;MQRankSum=-12.49;QD=2.59;ReadPosRankSum=-1.75;SOR=1.116	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:396,50:446:99:0|1:54804956_C_G:888,0,16415:54804956	4	0	3	0
chr19	54804960	54804960	T	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.T244A:p.F82I,KIR2DL4:NM_001080772:exon3:c.T244A:p.F82I	.	414	959	147	2	0	151	0.0729821	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.00121079333076	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1369685826	0	4.105e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.131	0.27663	T	0.066	0.49942	T	0.835	0.57185	P	0.439	0.51840	B	.	.	.	.	1	0.08975	N	2.84	0.82582	M	5.26	0.01121	T	-4.07	0.74661	D	0.527	0.55626	-1.0358	0.18606	T	0.009	0.03140	T	9	0.26590294	0.44090	T	0.001211	0.01583	T	0.125	0.34456	.	.	0.184605227958	0.18053	0.26410585650973184	0.26323	2.55136621799	0.97893	.	.	.	.	.	.	-0.229695	0.16690	T	-0.567717	0.15659	T	0.301442474126816	0.25063	T	.	.	.	.	.	.	.	.	.	.	.	-10.577	0.77288	D	.	.	0.167	0.46813	B	.;.;.;.	.;.;.;.	1.636286	0.20887	14.96	0.92714287306157606	0.22209	0.01840	0.05702	N	AEFBI	0.038078	0.05336	N	-0.973329979841069	0.09176	0.4332079	-1.27610017222819	0.04756	0.2250723	8.7197982285104E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	0.236000	0.17745	.	.	-1.223000	0.01335	0.008000	0.17931	0.000000	0.08366	0.000000	0.00833	0.2444:0.1891:0.2473:0.3192	0.084	0.00031	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2143	1793.72	167	chr19	54804960	.	T	A	1793.72	.	AC=3;AF=0.214;AN=14;BaseQRankSum=0.171;DP=1019;ExcessHet=1.1394;FS=7.022;MLEAC=3;MLEAF=0.214;MQ=58.48;MQRankSum=-12.49;QD=2.62;ReadPosRankSum=-1.259;SOR=1.216	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:401,51:452:99:0|1:54804956_C_G:934,0,16640:54804956	4	0	3	0
chr19	54804968	54804968	T	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.T252G:p.I84M,KIR2DL4:NM_001080772:exon3:c.T252G:p.I84M	.	417	956	147	2	0	151	0.0731944	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.000519273134144	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1325992067	0	4.105e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.437	0.14400	T	0.374	0.18395	T	0.42	0.35330	B	0.45	0.46092	P	.	.	.	.	1	0.08975	N	-0.585	0.02270	N	5.18	0.01178	T	1.07	0.01509	N	0.251	0.28381	-0.9332	0.43665	T	0.004	0.01435	T	9	0.07691896	0.12074	T	5.19E-4	0.00174	T	0.045	0.12272	.	.	0.117191471859	0.11215	0.08007400719172995	0.07942	1.80411115478	0.91699	.	.	.	.	.	.	-0.337573	0.05559	T	-0.722677	0.04667	T	0.127119965554841	0.15113	T	.	.	.	.	.	.	.	.	.	.	.	-6.241	0.49275	T	.	.	0.117	0.24666	B	.;.;.;.	.;.;.;.	-0.141825	0.03399	0.614	0.65607078407769726	0.07820	0.00065	0.00468	N	AEFBI	0.020411	0.00803	N	-1.5866963148947	0.01332	0.0580352	-1.74726134577514	0.00943	0.042239	1.02835550443145E-4	0.05123	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-1.147000	0.03298	.	.	-3.828000	0.00057	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.1793:0.4034:0.4173	4.771	0.12528	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2143	1911.72	164	chr19	54804968	.	T	G	1911.72	.	AC=3;AF=0.214;AN=14;BaseQRankSum=1.47;DP=1029;ExcessHet=1.1394;FS=4.031;MLEAC=3;MLEAF=0.214;MQ=58.49;MQRankSum=-12.39;QD=2.77;ReadPosRankSum=-0.833;SOR=1.194	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:402,53:455:99:0|1:54804956_C_G:1016,0,16665:54804956	4	0	3	0
chr19	54804969	54804969	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A253G:p.S85G,KIR2DL4:NM_001080772:exon3:c.A253G:p.S85G	.	417	954	149	2	0	153	0.0742358	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.000781134784742	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1442335978	0	4.105e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.003	0.11197	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	-1.715	0.00343	N	2.6	0.13204	T	2.66	0.00310	N	0.108	0.09349	-0.9842	0.34022	T	0.007	0.02439	T	9	0.02619794	0.00792	T	7.81E-4	0.00588	T	0.027	0.05988	.	.	0.158540857583	0.15491	0.07738362904380575	0.07674	1.4201359302	0.85604	.	.	.	.	.	.	-0.401399	0.02267	T	-0.814358	0.01570	T	0.0549007298840621	0.06341	T	.	.	.	.	.	.	.	.	.	.	.	0.541	0.00210	T	.	.	0.074	0.05274	B	.;.;.;.	.;.;.;.	-0.420405	0.02138	0.205	0.22000706786361646	0.00865	0.00040	0.00335	N	AEFBI	0.020537	0.00821	N	-2.07894454137503	0.00142	0.006092453	-2.08140116520627	0.00204	0.009005726	2.05305321022085E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-0.375000	0.07532	.	.	-1.077000	0.01579	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4285:0.0:0.5715:0.0	7.112	0.24570	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2143	1872.72	163	chr19	54804969	.	A	G	1872.72	.	AC=3;AF=0.214;AN=14;BaseQRankSum=0.657;DP=1028;ExcessHet=1.1394;FS=5.526;MLEAC=3;MLEAF=0.214;MQ=58.49;MQRankSum=-12.35;QD=2.72;ReadPosRankSum=-0.392;SOR=1.236	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:400,52:452:99:0|1:54804956_C_G:980,0,16584:54804956	4	0	3	0
chr19	54805015	54805015	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.T299C:p.F100S,KIR2DL4:NM_001080772:exon3:c.T299C:p.F100S	.	419	776	326	1	0	328	0.174468	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.0010106159629	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796753843	2.74e-06	0.0001	2.726e-06	2.755e-06	2.7e-06	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	0	0	1.885e-05	0	2.7e-06	0	0	5.341e-05	0.0027	7.827e-05	2.735e-05	0.0002	2.593e-05	1.856e-05	1.985e-05	1.133e-05	4.936e-05	0	6.628e-05	0	0	0	0	5.938e-05	0	0.0002	1.0	0.00964	T	0.435	0.14369	T	0.007	0.14184	B	0.008	0.13708	B	.	.	.	.	1	0.08975	N	-1.315	0.00701	N	5.92	0.00621	T	2.62	0.00266	N	0.075	0.04913	-0.9650	0.38210	T	0.001	0.00287	T	9	0.026813924	0.00840	T	0.001011	0.01096	T	0.013	0.01715	.	.	0.043077524339	0.03247	0.08146711258010714	0.08081	2.36001356848	0.96855	.	.	.	.	.	.	-0.43666	0.01353	T	-0.865008	0.00791	T	0.061946985667245	0.07471	T	.	.	.	.	.	.	.	.	.	.	.	1.914	0.00057	T	.	.	0.189	0.46085	B	.;.;.;.	.;.;.;.	-1.096354	0.00644	0.018	0.28837687520548816	0.01500	0.00083	0.00561	N	AEFDBI	0.025271	0.01704	N	-2.14306535979238	0.00103	0.00439903	-2.15844511365444	0.00139	0.006093682	1.25218217171751E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-6.340000	0.00086	.	.	-1.208000	0.01354	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.5038:0.0:0.4962	6.440	0.21047	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2143	3107.72	175	chr19	54805015	.	T	C	3107.72	.	AC=3;AF=0.214;AN=14;BaseQRankSum=1.2;DP=1077;ExcessHet=1.1394;FS=3.621;MLEAC=3;MLEAF=0.214;MQ=58.82;MQRankSum=-9.989;QD=4.19;ReadPosRankSum=1.5;SOR=1.063	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:419,65:484:99:0|1:54805010_A_G:1468,0,17371:54805010	4	0	3	0
chr19	54805016	54805016	T	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.T300A:p.F100L,KIR2DL4:NM_001080772:exon3:c.T300A:p.F100L	.	420	774	327	1	0	329	0.17528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.000772524294317	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796792356	1.37e-06	0.0001	0	2.755e-06	8.999e-07	2.3e-07	9e-08	.	.	0	0	0	0	1.887e-05	0	8.999e-07	0	0	5.338e-05	0.0027	7.825e-05	2.733e-05	0.0002	2.592e-05	1.855e-05	1.985e-05	1.133e-05	4.936e-05	0	6.625e-05	0	0	0	0	5.936e-05	0	0.0002	0.022	0.48642	D	0.648	0.06903	T	0.397	0.34783	B	0.333	0.42166	B	.	.	.	.	1	0.08975	N	1.665	0.42610	L	5.83	0.00652	T	-1.05	0.29933	N	0.118	0.11769	-0.9697	0.37262	T	0.003	0.01059	T	9	0.07033512	0.10217	T	7.73E-4	0.00568	T	0.023	0.04649	.	.	0.043077524339	0.03247	0.06693528354683899	0.06631	1.94744629028	0.93356	.	.	.	.	.	.	-0.343146	0.05173	T	-0.730682	0.04297	T	0.170065227283001	0.18584	T	.	.	.	.	.	.	.	.	.	.	.	-3.333	0.14166	T	.	.	0.864	0.81864	P	.;.;.;.	.;.;.;.	0.844460	0.12165	8.711	0.72763699724305153	0.10087	0.00466	0.02241	N	AEFDBI	0.041762	0.06392	N	-1.34932054137565	0.03132	0.1394129	-1.54047774464294	0.02042	0.09334472	7.01667449997308E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.7	0.05651	-1.755000	0.01913	.	.	-1.223000	0.01335	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.256:0.3803:0.0:0.3637	2.255	0.03803	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2143	3263.72	176	chr19	54805016	.	T	A	3263.72	.	AC=3;AF=0.214;AN=14;BaseQRankSum=0.338;DP=1085;ExcessHet=1.1394;FS=4.756;MLEAC=3;MLEAF=0.214;MQ=58.82;MQRankSum=-10.02;QD=4.36;ReadPosRankSum=1.41;SOR=1.044	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:421,69:490:99:0|1:54805010_A_G:1630,0,17447:54805010	4	0	3	0
chr19	54805024	54805024	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A308G:p.H103R,KIR2DL4:NM_001080772:exon3:c.A308G:p.H103R	.	423	744	354	1	0	356	0.193059	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00119188927627	.	.	.	.	.	.	.	.	.	.	0.0004226	11	26028	rs796878779	3.426e-06	0.0002	4.09e-06	2.756e-06	1.8e-06	1e-06	7.3e-07	3e-07	1.1e-07	0	0	0	0	5.683e-05	0	1.8e-06	0	0	4.7e-05	0.0029	5.246e-05	4.127e-05	0.0002	2.151e-05	1.554e-05	1.981e-05	1.049e-05	7.471e-05	0	6.676e-05	0	0	0	0	2.979e-05	0	0.0002	0.057	0.37966	T	0.101	0.38596	T	0.009	0.15093	B	0.006	0.12133	B	0.900041	0.07350	U	1.083630	1	0.08975	N	1.245	0.31408	L	5.78	0.00681	T	-5.95	0.89152	D	0.045	0.09066	-0.9256	0.44772	T	0.003	0.00994	T	10	0.102012426	0.18672	T	0.001192	0.01533	T	0.022	0.04323	.	.	0.143184338766	0.13958	0.03833865634309133	0.03779	1.81219128519	0.91816	.	.	.	.	.	.	-0.350096	0.04721	T	-0.740665	0.03863	T	0.0647783944973474	0.07899	T	.	.	.	.	.	.	.	.	.	.	.	-4.915	0.35903	T	.	.	0.097	0.17060	B	.;.;.;.	.;.;.;.	-0.151121	0.03348	0.592	0.69629908088386028	0.09034	0.00308	0.01632	N	AEFDBI	0.034642	0.04326	N	-1.13086835408799	0.06101	0.2799287	-1.26988241760385	0.04843	0.2294386	2.01186922009763E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-0.942	0.09869	-3.960000	0.00366	.	.	0.517000	0.23534	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.5371:0.0:0.4629:0.0	4.279	0.10270	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2143	3975.72	181	chr19	54805024	.	A	G	3975.72	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-0.157;DP=1098;ExcessHet=1.1394;FS=4.473;MLEAC=3;MLEAF=0.214;MQ=58.78;MQRankSum=-9.402;QD=5.22;ReadPosRankSum=0.392;SOR=0.978	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:418,78:496:99:0|1:54805010_A_G:1977,0,17190:54805010	4	0	3	0
chr19	54805033	54805033	C	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.C317T:p.T106I,KIR2DL4:NM_001080772:exon3:c.C317T:p.T106I	.	424	690	407	1	0	409	0.228619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.000700822115211	.	.	.	.	.	.	.	.	.	.	0.0009605	25	26028	rs796513163	7.541e-06	0.0002	2.728e-06	1.241e-05	2.239e-05	4.05e-06	2.96e-06	8.4e-07	5.7e-07	0	2.239e-05	3.862e-05	0	7.619e-05	0	3.601e-06	0	1.166e-05	3.338e-05	0.0029	5.221e-05	1.366e-05	0.0006	1.276e-05	8.09e-06	0.0002	9.396e-05	2.468e-05	0	0	0	0	0	0	1.485e-05	0	0.0006	0.142	0.25768	T	0.321	0.19073	T	0.003	0.11197	B	0.004	0.10090	B	0.591279	0.05593	U	1.381260	1	0.08975	N	2	0.54354	M	2.55	0.13795	T	-2.95	0.63901	D	0.118	0.10769	-0.9874	0.33249	T	0.033	0.14334	T	10	0.060203582	0.07359	T	7.01E-4	0.00435	T	0.024	0.04979	.	.	0.0675242888579	0.06100	0.04331565967951002	0.04276	1.63047291344	0.89215	.	.	.	.	.	.	-0.366031	0.03800	T	-0.763555	0.02987	T	0.0524682142329862	0.05929	T	.	.	.	.	.	.	.	.	.	.	.	-9.207	0.69223	D	.	.	0.216	0.46273	B	.;.;.;.	.;.;.;.	0.032458	0.04511	1.213	0.83014543442455713	0.14496	0.00242	0.01343	N	AEFDBI	0.041998	0.06460	N	-1.24619832928253	0.04350	0.1961546	-1.41778311686848	0.03074	0.1426955	1.1506097044956E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.14	-2.28	0.06438	-1.970000	0.01595	.	.	-0.553000	0.04888	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.6794:0.3206:0.0:0.0	6.335	0.20497	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2857	4725.13	187	chr19	54805033	.	C	T	4725.13	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-0.254;DP=1154;ExcessHet=2.5225;FS=7.23;MLEAC=4;MLEAF=0.286;MQ=58.84;MQRankSum=-8.47;QD=4.5;ReadPosRankSum=-1.261;SOR=0.958	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:407,88:495:99:0|1:54805010_A_G:2277,0,16446:54805010	3	0	4	0
chr19	54805068	54805068	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A352G:p.M118V,KIR2DL4:NM_001080772:exon3:c.A352G:p.M118V	.	425	605	491	1	0	493	0.289489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.000896150500463	.	.	.	.	.	.	.	.	.	.	0.0012679	33	26028	rs377158496	7.372e-05	0.0003	4.11e-05	0.0001	0.0004	6.225e-05	5.782e-05	6.542e-05	6.1e-05	0	0	3.935e-05	7.58e-05	0.0001	0.0004	7.939e-05	8.332e-05	3.521e-05	1.994e-05	0.0009	1.3e-05	2.72e-05	0.0004	5.3e-06	2.47e-06	7.542e-05	3.122e-05	0	0	0	0	0	9.517e-05	0	0	0	0.0004	1.0	0.00964	T	1.0	0.01155	T	0.009	0.15093	B	0.004	0.10090	B	0.167963	0.03088	N	2.088310	1	0.08975	N	-0.475	0.02701	N	2.74	0.11730	T	0.19	0.06868	N	0.074	0.06587	-1.0167	0.24787	T	0.015	0.06282	T	10	0.027635008	0.00906	T	8.96E-4	0.00822	T	0.014	0.01968	.	.	0.143184338766	0.13958	0.03977817011760987	0.03923	1.56059685374	0.88033	.	.	.	.	.	.	-0.414852	0.01846	T	-0.833683	0.01198	T	0.0837077051401138	0.10455	T	.	.	.	.	.	.	.	.	.	.	.	-1.865	0.02998	T	.	.	0.077	0.08899	B	.;.;.;.	.;.;.;.	-0.512683	0.01826	0.145	0.81087781055770536	0.13513	0.00133	0.00820	N	AEFDBI	0.025271	0.01704	N	-1.41486537055219	0.02508	0.1108357	-1.45837055724275	0.02695	0.1244398	1.6772618897357E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.14	-0.275	0.12268	-1.056000	0.03600	.	.	-1.196000	0.01368	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.6062:0.0:0.3938:0.0	3.173	0.06167	976	0.04745	Immunoglobulin subtype;Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2857	5827.13	183	chr19	54805068	.	A	G	5827.13	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-0.424;DP=1107;ExcessHet=2.5225;FS=6.181;MLEAC=4;MLEAF=0.286;MQ=58.6;MQRankSum=-7.554;QD=5.86;ReadPosRankSum=-0.356;SOR=0.803	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:375,108:483:99:.:.:2504,0,9829:.	3	0	4	0
chr19	54805957	54805957	A	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A368T:p.Y123F,KIR2DL4:NM_001080772:exon4:c.A368T:p.Y123F	.	425	734	362	1	0	364	0.19869	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.000412457697702	.	.	.	.	.	.	.	.	.	.	0.0008452	22	26028	rs548305067	6.874e-07	4.789e-06	0	1.382e-06	9.011e-07	0	0	.	.	0	0	0	0	0	0	9.011e-07	0	0	0	2.635e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.083	0.33091	T	0.185	0.45744	T	0.029	0.25941	B	0.11	0.35187	B	.	.	.	.	1	0.08975	N	1.79	0.46772	L	5.76	0.00695	T	-2.94	0.62863	D	0.143	0.19055	-0.9456	0.41715	T	0.005	0.01651	T	9	0.09953773	0.18069	T	4.12E-4	0.00078	T	0.026	0.05648	.	.	0.0934897674506	0.08844	0.027781850178691565	0.02728	1.64456428975	0.89413	.	.	.	.	.	.	-0.296197	0.09024	T	-0.663243	0.08049	T	0.040030807459604	0.03696	T	.	.	.	.	.	.	.	.	.	.	.	-6.322	0.59734	T	.	.	0.166	0.39731	B	.;.;.;.;.;.	.;.;.;.;.;.	1.365047	0.17746	13.34	0.8690361499563457	0.16852	0.00313	0.01653	N	AEFDBI	0.037221	0.05085	N	-0.949558894302633	0.09702	0.4603585	-1.11896342680627	0.07338	0.3565461	1.17956831403963E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-0.172	0.12673	-0.279000	0.08512	.	.	-0.540000	0.04934	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5945:0.4055:0.0:0.0	3.728	0.08011	976	0.04745	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3571	4352.11	174	chr19	54805957	.	A	T	4352.11	.	AC=5;AF=0.357;AN=14;BaseQRankSum=3.43;DP=1267;ExcessHet=4.7409;FS=7.958;MLEAC=5;MLEAF=0.357;MQ=57.01;MQRankSum=-13.09;QD=4.16;ReadPosRankSum=0.61;SOR=1.411	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:420,73:493:99:0|1:54805940_TCTC_T:1801,0,17416:54805940	2	0	5	0
chr19	54805960	54805960	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A371G:p.E124G,KIR2DL4:NM_001080772:exon4:c.A371G:p.E124G	.	423	736	362	1	0	364	0.198257	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.000765021981206	.	.	.	.	.	.	.	.	.	.	0.0007684	20	26028	rs796298317	6.871e-07	4.789e-06	0	1.381e-06	9.009e-07	0	0	.	.	0	0	0	0	0	0	9.009e-07	0	0	0	2.634e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.122	0.27663	T	0.119	0.39190	T	0.007	0.14184	B	0.002	0.12133	B	.	.	.	.	1	0.08975	N	-0.045	0.04980	N	2.62	0.12988	T	-3.74	0.71042	D	0.211	0.23506	-0.9370	0.43088	T	0.002	0.00676	T	9	0.05600232	0.06209	T	7.65E-4	0.00549	T	0.010	0.01040	.	.	0.043077524339	0.03247	0.06409426405292065	0.06348	1.75526258725	0.91031	.	.	.	.	.	.	-0.331698	0.05984	T	-0.714237	0.05079	T	0.0368346457453638	0.03126	T	.	.	.	.	.	.	.	.	.	.	.	-2.952	0.34463	T	.	.	0.072	0.17103	B	.;.;.;.;.;.	.;.;.;.;.;.	0.634502	0.10029	6.781	0.88093227450565881	0.17711	0.00125	0.00780	N	AEFDBI	0.028794	0.02603	N	-1.26647521352365	0.04087	0.1837661	-1.38178856189957	0.03446	0.1607592	2.06444612407306E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-1.55	0.08105	-0.492000	0.06547	.	.	-1.507000	0.01020	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5179:0.0:0.4821:0.0	4.324	0.10473	976	0.04745	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3571	4916.11	184	chr19	54805960	.	A	G	4916.11	.	AC=5;AF=0.357;AN=14;BaseQRankSum=3.06;DP=1304;ExcessHet=4.7409;FS=6.296;MLEAC=5;MLEAF=0.357;MQ=56.94;MQRankSum=-13.44;QD=4.54;ReadPosRankSum=0.472;SOR=1.333	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:430,76:506:99:0|1:54805940_TCTC_T:1897,0,17827:54805940	2	0	5	0
chr19	54805974	54805974	A	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A385T:p.T129S,KIR2DL4:NM_001080772:exon4:c.A385T:p.T129S	.	422	677	422	1	0	424	0.23847	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.00369938800555	.	.	5.567e-05	0	0.0007	0	0	0	0	0	.	.	.	rs748394765	3.431e-06	1.3e-05	4.096e-06	2.759e-06	2.701e-06	1.01e-06	7.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.701e-06	3.326e-05	0	6.662e-06	6.588e-05	1.3e-05	0	6.616e-05	0	0	.	.	0	0	6.616e-05	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.07471	B	0.0	0.01387	B	0.001108	0.00740	N	7.200430	1	0.08975	N	-3.165	0.00009	N	2.73	0.11839	T	1.22	0.01712	N	0.056	0.03613	-0.8748	0.50166	T	0.006	0.01870	T	10	0.013647258	0.00289	T	0.003699	0.08558	T	0.102	0.29158	.	.	0.143184338766	0.13958	0.027044094549388754	0.02654	1.39109223815	0.85005	.	.	.	.	.	.	-0.462046	0.00955	T	-0.901474	0.00492	T	0.0748926305845455	0.09321	T	.	.	.	.	.	.	.	.	.	.	.	-0.763	0.00889	T	.	.	0.064	0.05845	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.834838	0.01040	0.044	0.53029054606884674	0.04860	0.00012	0.00170	N	AEFDBI	0.015392	0.00291	N	-2.01882774161932	0.00193	0.008257516	-1.94356271259806	0.00400	0.01770385	1.17063954684405E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-0.0469	0.13174	0.292000	0.18766	.	.	-0.624000	0.04539	0.002000	0.15269	0.000000	0.08366	0.005000	0.06747	0.3872:0.0:0.0:0.6128	3.134	0.06046	976	0.04745	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3571	7636.11	202	chr19	54805974	.	A	T	7636.11	.	AC=5;AF=0.357;AN=14;BaseQRankSum=4.08;DP=1447;ExcessHet=4.7409;FS=4.344;MLEAC=5;MLEAF=0.357;MQ=56.86;MQRankSum=-13.23;QD=6.23;ReadPosRankSum=0.044;SOR=1.089	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:473,113:586:99:0|1:54805940_TCTC_T:3321,0,19517:54805940	2	0	5	0
chr19	54805981	54805981	G	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.G392A:p.R131Q,KIR2DL4:NM_001080772:exon4:c.G392A:p.R131Q	.	421	659	441	1	0	443	0.251562	.	.	.	3452252	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.013	0.000941604155589	.	.	0.0003	0	0.0013	0	0	0.0002	0	0.0016	0.001921	50	26028	rs202246882	5.279e-05	6.294e-05	3.955e-05	6.616e-05	0.0003	4.287e-05	3.961e-05	0.0002	0.0002	0	0.0001	0	7.564e-05	0	0.0002	3.51e-05	6.642e-05	0.0003	0.0001	0.0002	0.0001	0.0001	0.0008	8.284e-05	6.82e-05	0.0005	0.0004	7.44e-05	0	0.0008	0	0	0	0	2.956e-05	0	0.0004	1.0	0.00964	T	1.0	0.03910	T	0.0	0.13644	B	0.0	0.04355	B	0.464890	0.04891	N	1.542390	1	0.08975	N	-2.565	0.00047	N	2.75	0.11622	T	2.25	0.00472	N	0.04	0.03069	-0.9519	0.40643	T	0.004	0.01295	T	10	0.015721977	0.00330	T	9.42E-4	0.00934	T	0.013	0.01715	.	.	0.174091166621	0.17034	0.021095889007445256	0.02062	1.71924122415	0.90548	.	.	.	.	.	.	-0.714436	0.00030	T	-0.905433	0.00465	T	0.0501607574657884	0.05529	T	.	.	.	.	.	.	.	.	.	.	.	-0.217	0.00435	T	.	.	0.065	0.06341	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.525354	0.01788	0.138	0.73410874544489724	0.10318	0.00030	0.00276	N	AEFDBI	0.021298	0.00932	N	-2.17374974192811	0.00088	0.003751786	-2.12833273597635	0.00161	0.007103925	2.59535722897861E-5	0.03498	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-1.94	0.07158	-1.595000	0.02196	.	.	-0.581000	0.04707	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.4314:0.0:0.2508:0.3177	1.446	0.02221	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002345	0.000000	0.004167	0.011628	0.000000	0.000000	0.000000	0.004202	0.3571	9049.11	225	chr19	54805981	.	G	A	9049.11	.	AC=5;AF=0.357;AN=14;BaseQRankSum=3.89;DP=1535;ExcessHet=4.7409;FS=3.149;MLEAC=5;MLEAF=0.357;MQ=56.95;MQRankSum=-12.62;QD=6.89;ReadPosRankSum=0;SOR=0.996	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:496,127:623:99:0|1:54805940_TCTC_T:3819,0,20355:54805940	2	0	5	0
chr19	54806034	54806034	C	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.C445A:p.Q149K,KIR2DL4:NM_001080772:exon4:c.C445A:p.Q149K	.	416	603	500	3	0	506	0.295561	.	.	.	2327274	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.027	0.000600995199084	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796139593	2.054e-06	2.189e-05	2.725e-06	1.376e-06	2.699e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	0	0	0	6.586e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.015	0.52492	D	0.466	0.21545	T	0.028	0.19712	B	0.019	0.26717	B	0.218530	0.03437	U	2.191760	1	0.08975	N	1.17	0.29769	L	2.69	0.12268	T	-0.65	0.22944	N	0.106	0.13484	-1.0136	0.25784	T	0.041	0.17446	T	10	0.07830647	0.12465	T	6.01E-4	0.00274	T	0.027	0.05988	.	.	0.15499578495	0.15088	0.030426962936334883	0.02991	1.86795582778	0.92482	.	.	.	.	.	.	-0.327326	0.06316	T	-0.707957	0.05402	T	0.07779072841769	0.09702	T	.	.	.	.	.	.	.	.	.	.	.	-3.072	0.14113	T	.	.	0.095	0.16143	B	.;.;.;.;.;.	.;.;.;.;.;.	-1.261443	0.00472	0.010	0.57104873323543892	0.05696	0.00143	0.00871	N	AEFDBI	0.036756	0.04948	N	-1.49293136850256	0.01900	0.08334951	-1.67917428157046	0.01232	0.05552245	1.96384650934533E-4	0.05898	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.04	-2.07	0.06873	-1.932000	0.01645	.	.	-5.196000	0.00013	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4754:0.2961:0.2285	4.213	0.09977	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3571	13581.1	274	chr19	54806034	.	C	A	13581.1	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-1.398;DP=2464;ExcessHet=4.7409;FS=0;MLEAC=5;MLEAF=0.357;MQ=56.72;MQRankSum=-13.3;QD=8.23;ReadPosRankSum=1.75;SOR=0.641	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:604,178:782:99:0|1:54806034_C_A:5656,0,24682:54806034	2	0	5	0
chr19	54806035	54806035	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A446G:p.Q149R,KIR2DL4:NM_001080772:exon4:c.A446G:p.Q149R	.	417	602	500	3	0	506	0.295906	.	.	.	2338656	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.005	0.000698231574451	.	.	0	0	0	0	0	0	0	0	.	.	.	rs746343340	2.328e-05	5.747e-05	1.226e-05	3.441e-05	0.0003	1.676e-05	1.479e-05	0.0003	0.0002	0	0	0	0	0	0	2.699e-06	1.658e-05	0.0003	1.998e-05	0.0002	0	4.097e-05	0.0006	5.31e-06	2.47e-06	0.0002	9.372e-05	0	0	0	0	0	0	0	0	0	0.0006	1.0	0.00964	T	0.716	0.08505	T	0.0	0.07471	B	0.002	0.19048	B	0.218530	0.03437	N	2.191760	1	0.08975	N	-0.41	0.02942	N	2.67	0.12473	T	0.01	0.11185	N	0.051	0.02861	-0.9819	0.34561	T	0.015	0.05849	T	10	0.022258013	0.00551	T	6.98E-4	0.00435	T	0.005	0.00259	.	.	0.20808081866	0.20439	0.018312308498273373	0.01785	1.62690945155	0.89163	.	.	.	.	.	.	-0.395299	0.02485	T	-0.805596	0.01766	T	0.0361073549231356	0.02999	T	.	.	.	.	.	.	.	.	.	.	.	-0.457	0.00626	T	.	.	0.059	0.01645	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.548845	0.01717	0.126	0.1435906815429033	0.00314	0.00175	0.01031	N	AEFDBI	0.030820	0.03175	N	-2.16967246651284	0.00090	0.003831711	-2.20712287736297	0.00108	0.004744652	1.07926449648836E-4	0.05123	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-1.76	0.07574	-0.066000	0.11556	.	.	-3.284000	0.00100	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.7891:0.0:0.2109:0.0	6.415	0.20912	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.3571	13566.1	276	chr19	54806035	.	A	G	13566.1	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-0.83;DP=2458;ExcessHet=4.7409;FS=0;MLEAC=5;MLEAF=0.357;MQ=56.71;MQRankSum=-13.36;QD=8.19;ReadPosRankSum=1.88;SOR=0.64	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:607,178:785:99:0|1:54806034_C_A:5647,0,24808:54806034	2	0	5	0
chr19	54806051	54806051	C	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.C462G:p.I154M,KIR2DL4:NM_001080772:exon4:c.C462G:p.I154M	.	413	617	488	4	0	496	0.286705	.	.	.	2309998	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.009	0.000542649328314	.	.	.	.	.	.	.	.	.	.	0.0009221	24	26028	rs112266387	6.846e-07	1.916e-05	1.362e-06	0	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	6.643e-06	3.949e-05	0	1.361e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	1.0	0.00964	T	0.265	0.28300	T	0.001	0.13644	B	0.005	0.26717	B	0.021564	0.01555	N	4.036070	1	0.08975	N	-1.185	0.00856	N	2.71	0.12055	T	0.58	0.03824	N	0.052	0.04913	-0.9508	0.40833	T	0.016	0.06329	T	10	0.01567614	0.00329	T	5.43E-4	0.00196	T	0.009	0.00846	.	.	0.158540857583	0.15491	0.022625134842526706	0.02214	1.56269628182	0.88057	.	.	.	.	.	.	-0.406495	0.02098	T	-0.821678	0.01419	T	0.0491104212058717	0.05343	T	.	.	.	.	.	.	.	.	.	.	.	-3.48	0.28982	T	.	.	0.069	0.06617	B	.;.;.;.;.;.	.;.;.;.;.;.	-1.681431	0.00202	0.003	0.30573155537778873	0.01679	0.00033	0.00296	N	AEFDBI	0.022408	0.01117	N	-2.59438172759116	0.00009	0.0004174465	-2.64788836212231	0.00010	0.0004634108	0.947304446228941	0.27746	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-2.09	0.06831	-1.305000	0.02846	.	.	-0.638000	0.04459	0.000000	0.06391	0.000000	0.08366	0.022000	0.11911	0.0:0.4374:0.2279:0.3346	4.6	0.11740	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.3571	12878.1	281	chr19	54806051	.	C	G	12878.1	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-1.294;DP=2491;ExcessHet=4.7409;FS=1.314;MLEAC=5;MLEAF=0.357;MQ=56.99;MQRankSum=-13.36;QD=7.59;ReadPosRankSum=2.95;SOR=0.608	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:634,172:806:99:0|1:54806034_C_A:5314,0,26104:54806034	2	0	5	0
chr19	54806073	54806074	GA	-	exonic	KIR2DL4;LOC112268354	.	frameshift deletion	KIR2DL4:NM_001080770:exon4:c.484_485del:p.E162Sfs*3,KIR2DL4:NM_001080772:exon4:c.484_485del:p.E162Sfs*3	.	409	636	474	3	0	480	0.273973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.258e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	2.63e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	11995.1	283	chr19	54806072	.	GGA	G	11995.1	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-0.041;DP=2515;ExcessHet=4.7409;FS=3.043;MLEAC=5;MLEAF=0.357;MQ=57.23;MQRankSum=-13.27;QD=6.97;ReadPosRankSum=1.83;SOR=0.842	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:648,164:812:99:0|1:54806034_C_A:4936,0,26716:54806034	2	0	5	0
chr19	54806075	54806075	-	GG	exonic	KIR2DL4;LOC112268354	.	frameshift insertion	KIR2DL4:NM_001080770:exon4:c.486_487insGG:p.A163Gfs*78,KIR2DL4:NM_001080772:exon4:c.486_487insGG:p.A163Gfs*83	.	415	630	474	3	0	480	0.275862	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.258e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	2.633e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	11971.1	281	chr19	54806075	.	A	AGG	11971.1	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-0.193;DP=2508;ExcessHet=4.7409;FS=3.09;MLEAC=5;MLEAF=0.357;MQ=57.23;MQRankSum=-13.15;QD=6.98;ReadPosRankSum=1.46;SOR=0.896	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:644,166:810:99:0|1:54806034_C_A:5032,0,26542:54806034	2	0	5	0
chr19	54806086	54806086	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.T497C:p.L166P,KIR2DL4:NM_001080772:exon4:c.T497C:p.L166P	.	417	638	464	3	0	470	0.269187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.00126561986838	.	.	.	.	.	.	.	.	.	.	0.0108345	282	26028	rs112694450	2.054e-06	2.668e-05	1.362e-06	2.752e-06	2.699e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	0	0	0	4.606e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.176	0.28772	T	0.247	0.31026	T	0.008	0.14655	B	0.01	0.16012	B	.	.	.	.	1	0.08975	N	0.96	0.23930	L	5.72	0.00726	T	-3.32	0.68764	D	0.048	0.08088	-0.8920	0.48758	T	0.002	0.00676	T	9	0.05647248	0.06334	T	0.001266	0.01708	T	0.084	0.24469	.	.	0.043077524339	0.03247	0.029543096631376373	0.02903	2.22587521974	0.95901	.	.	.	.	.	.	-0.333176	0.05874	T	-0.71636	0.04974	T	0.06923972269659	0.08545	T	.	.	.	.	.	.	.	.	.	.	.	-6.488	0.50992	T	.	.	0.125	0.36889	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.541643	0.01739	0.130	0.30546163533684245	0.01676	0.00084	0.00566	N	AEFDBI	0.040908	0.06150	N	-1.75954112441418	0.00652	0.02811985	-1.89857749402206	0.00493	0.0218348	4.00468085139758E-4	0.06820	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.728	-1.46	0.08338	-4.522000	0.00254	.	.	-1.727000	0.00720	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2448:0.2837:0.2446:0.2269	0.244	0.00182	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3571	11759.1	287	chr19	54806086	.	T	C	11759.1	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-0.621;DP=2489;ExcessHet=4.7409;FS=5.174;MLEAC=5;MLEAF=0.357;MQ=57.31;MQRankSum=-13.31;QD=6.94;ReadPosRankSum=-0.946;SOR=1.055	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:636,160:796:99:0|1:54806034_C_A:4804,0,26224:54806034	2	0	5	0
chr19	54806109	54806109	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A520G:p.I174V,KIR2DL4:NM_001080772:exon4:c.A520G:p.I174V	.	416	679	424	3	0	430	0.240492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.00150018900562	.	.	.	.	.	.	.	.	.	.	0.0017673	46	26028	rs200435373	4.107e-06	8.21e-06	4.086e-06	4.128e-06	8.986e-05	1.48e-06	9.7e-07	2.381e-05	1.26e-05	8.986e-05	4.474e-05	0	0	0	0	8.995e-07	0	0	3.982e-05	6.581e-05	5.185e-05	2.72e-05	9.852e-05	1.73e-05	1.139e-05	3.296e-05	1.946e-05	9.852e-05	0	0	0	0	0	0	2.95e-05	0	0	1.0	0.00964	T	0.716	0.08273	T	0.0	0.02946	B	0.0	0.04355	B	0.000015	0.00162	N	21.575300	1	0.08975	N	-1.765	0.00315	N	2.72	0.11947	T	0.4	0.04022	N	0.064	0.09349	-0.9697	0.37262	T	0.008	0.02968	T	9	0.026097596	0.00785	T	0.002	0.02318	T	0.047	0.12962	.	.	0.043077524339	0.03247	0.009202094420106284	0.00883	1.30891436969	0.83166	.	.	.	.	.	.	-0.448991	0.01145	T	-0.882721	0.00632	T	0.0586992040478046	0.06962	T	.	.	.	.	.	.	.	.	.	.	.	-0.517	0.02545	T	.	.	0.065	0.05360	B	.;.;.;.;.;.	.;.;.;.;.;.	-2.275204	0.00054	0.001	0.16757461822379344	0.00462	0.00104	0.00666	N	AEFDBI	0.027275	0.02201	N	-2.5106296527513	0.00015	0.0006516505	-2.51493381181123	0.00021	0.0009431019	0.0431614665892215	0.14558	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.427	-0.854	0.10163	-0.997000	0.03816	.	.	-2.920000	0.00157	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3571	10119.1	283	chr19	54806109	.	A	G	10119.1	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-1.304;DP=2406;ExcessHet=4.7409;FS=6.687;MLEAC=5;MLEAF=0.357;MQ=57.61;MQRankSum=-13.22;QD=6.28;ReadPosRankSum=-2.327;SOR=1.264	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:616,145:761:99:0|1:54806034_C_A:4234,0,25429:54806034	2	0	5	0
chr19	54806112	54806112	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A523G:p.N175D,KIR2DL4:NM_001080772:exon4:c.A523G:p.N175D	.	414	926	180	2	0	184	0.0903733	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00143953544246	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs796888355	6.845e-07	4.105e-06	1.362e-06	0	1.164e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.164e-05	0	1.315e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.03	0.45393	D	0.337	0.18178	T	0.002	0.09854	B	0.007	0.12992	B	0.005772	0.01094	U	5.332710	1	0.08975	N	0.345	0.11182	N	2.53	0.14038	T	-2.93	0.61865	D	0.138	0.13626	-0.9903	0.32525	T	0.026	0.11220	T	9	0.087477654	0.14971	T	0.00144	0.02164	T	0.015	0.02232	.	.	0.220282294035	0.21616	0.006777662489737481	0.00644	1.71896696176	0.90540	.	.	.	.	.	.	-0.416589	0.01799	T	-0.836177	0.01158	T	0.0856821440474374	0.10698	T	.	.	.	.	.	.	.	.	.	.	.	-7.374	0.57236	T	.	.	0.120	0.29060	B	.;.;.;.;.;.	.;.;.;.;.;.	0.412746	0.07838	4.531	0.79727465880553572	0.12873	0.00046	0.00367	N	AEFDBI	0.025639	0.01789	N	-1.25407888021563	0.04246	0.1912621	-1.39176687369686	0.03339	0.1555523	1.44639492226876E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.427	-0.795	0.10364	-0.556000	0.06082	.	.	0.352000	0.19979	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	.	.	.	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2143	2882.72	285	chr19	54806112	.	A	G	2882.72	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-1;DP=2366;ExcessHet=1.1394;FS=6.205;MLEAC=3;MLEAF=0.214;MQ=57.42;MQRankSum=-13.28;QD=2.44;ReadPosRankSum=-2.219;SOR=1.336	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:656,98:754:99:.:.:613,0,26688:.	4	0	3	0
chr19	54808838	54808838	C	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon5:c.C661T:p.P221S,KIR2DL4:NM_001080772:exon5:c.C661T:p.P221S	.	424	736	361	1	0	363	0.19782	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.000621740094912	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.39e-06	2.737e-06	0	2.789e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	9.144e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.277	0.21968	T	0.279	0.21745	T	0.006	0.13644	B	0.003	0.08700	B	0.046212	0.01956	U	5.272780	1	0.08975	N	0.045	0.08109	N	7.05	0.00450	T	-2.36	0.55025	N	0.061	0.06587	-0.9252	0.44829	T	0.001	0.00255	T	10	0.058746576	0.06953	T	6.22E-4	0.00303	T	0.018	0.03083	.	.	0.0675242888579	0.06100	0.02819159353811284	0.02769	1.54876453167	0.87867	.	.	.	.	.	.	-0.366904	0.03753	T	-0.764809	0.02943	T	0.114286564290524	0.13862	T	.	.	.	.	.	.	.	.	.	.	.	-4.184	0.26519	T	.	.	0.104	0.18950	B	.;.;.;.	.;.;.;.	-0.289144	0.02665	0.341	0.41441202538805488	0.02990	0.00018	0.00208	N	AEFBI	0.019551	0.00689	N	-1.61870495931056	0.01174	0.05102983	-1.71290992187964	0.01081	0.04855486	3.23883740516504E-5	0.03775	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.852	-1.7	0.07721	-0.587000	0.05874	.	.	-0.888000	0.02403	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.0:0.2772:0.3273:0.3955	2.159	0.03587	982	0.03397	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2857	10056.1	276	chr19	54808838	.	C	T	10056.1	.	AC=4;AF=0.286;AN=14;BaseQRankSum=4.4;DP=1648;ExcessHet=2.5225;FS=2.262;MLEAC=4;MLEAF=0.286;MQ=57.35;MQRankSum=-15.2;QD=6.46;ReadPosRankSum=1.4;SOR=0.952	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:590,139:729:99:0|1:54808838_C_T:4061,0,24266:54808838	3	0	4	0
chr19	54808851	54808852	GG	-	exonic	KIR2DL4;LOC112268354	.	frameshift deletion	KIR2DL4:NM_001080770:exon5:c.674_675del:p.W225Sfs*5,KIR2DL4:NM_001080772:exon5:c.674_675del:p.W225Sfs*5	.	420	753	348	1	0	350	0.188578	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	11505.1	298	chr19	54808850	.	TGG	T	11505.1	.	AC=4;AF=0.286;AN=14;BaseQRankSum=3.41;DP=1741;ExcessHet=2.5225;FS=1.35;MLEAC=4;MLEAF=0.286;MQ=57.51;MQRankSum=-14.6;QD=7.01;ReadPosRankSum=-0.778;SOR=0.813	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:617,152:769:99:0|1:54808838_C_T:4525,0,25380:54808838	3	0	4	0
chr19	54808853	54808853	-	AT	exonic	KIR2DL4;LOC112268354	.	frameshift insertion	KIR2DL4:NM_001080770:exon5:c.676_677insAT:p.P226Hfs*15,KIR2DL4:NM_001080772:exon5:c.676_677insAT:p.P226Hfs*20	.	419	755	347	1	0	349	0.187735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	11494.1	298	chr19	54808853	.	C	CAT	11494.1	.	AC=4;AF=0.286;AN=14;BaseQRankSum=3.09;DP=1744;ExcessHet=2.5225;FS=1.357;MLEAC=4;MLEAF=0.286;MQ=57.57;MQRankSum=-14.36;QD=7.04;ReadPosRankSum=-0.862;SOR=0.808	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:611,150:761:99:0|1:54808838_C_T:4459,0,25134:54808838	3	0	4	0
chr19	54808875	54808875	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon5:c.T698C:p.F233S,KIR2DL4:NM_001080772:exon5:c.T698C:p.F233S	.	419	767	335	1	0	337	0.180118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.000447511138945	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1465997687	1.376e-06	1.368e-06	1.37e-06	1.382e-06	6.075e-05	2.3e-07	9e-08	1.006e-05	3.76e-06	6.075e-05	0	0	0	0	0	0	0	0	1.993e-05	1.974e-05	1.297e-05	2.724e-05	7.415e-05	5.3e-06	2.47e-06	1.966e-05	1.045e-05	7.415e-05	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	0.506	0.10967	T	0.0	0.07471	B	0.002	0.06944	B	0.491149	0.05037	U	1.930170	1	0.08975	N	-1.515	0.00494	N	7.25	0.00433	T	2.25	0.00307	N	0.14	0.13911	-0.9819	0.34561	T	0.000	0.00152	T	10	0.028942287	0.01023	T	4.48E-4	0.00107	T	0.009	0.00846	.	.	0.043077524339	0.03247	0.02708054647761313	0.02658	2.35642927456	0.96844	.	.	.	.	.	.	-0.409861	0.01992	T	-0.826513	0.01325	T	0.0655447216952588	0.08011	T	.	.	.	.	.	.	.	.	.	.	.	-0.475	0.00568	T	.	.	0.070	0.03887	B	.;.;.;.	.;.;.;.	-0.295392	0.02636	0.333	0.47455017389395787	0.03881	0.00276	0.01495	N	AEFBCI	0.026542	0.02011	N	-2.02046759288525	0.00191	0.008189703	-2.03483107511558	0.00258	0.01138985	2.16622587642089E-5	0.03498	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.852	-1.7	0.07721	-2.798000	0.00832	.	.	-2.007000	0.00444	0.000000	0.06391	0.000000	0.08366	0.019000	0.11356	0.0:0.4355:0.0:0.5645	3.991	0.09026	982	0.03397	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001862	0.000000	0.000000	0.000000	0.000000	0.000000	0.010989	0.000000	0.2857	12587.1	309	chr19	54808875	.	T	C	12587.1	.	AC=4;AF=0.286;AN=14;BaseQRankSum=2.63;DP=1789;ExcessHet=2.5225;FS=0;MLEAC=4;MLEAF=0.286;MQ=57.86;MQRankSum=-13.9;QD=7.55;ReadPosRankSum=-2.419;SOR=0.713	GT:AD:DP:GQ:PL	0/1:605,158:763:99:4822,0,15543	3	0	4	0
chr19	54830110	54830110	A	T	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.A1170T:p.E390D,KIR3DL1:NM_013289:exon9:c.A1170T:p.E390D	.	487	1018	4	13	0	30	0.0145208	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00295037248364	.	0.000998403	7.89e-05	0.0002	0.0002	0	0	7.895e-05	0	0	0.0001921	5	26028	rs577254016	1.882e-05	0.0015	1.15e-05	2.624e-05	0.0001	1.309e-05	1.112e-05	4.711e-05	3.035e-05	3.065e-05	0.0001	0	2.641e-05	0	0	1.796e-05	0	0	8.649e-05	0.0010	6.973e-05	0.0001	0.0001	4.903e-05	3.833e-05	5.029e-05	3.246e-05	0.0001	0	0.0001	0	0	0.0001	0.0037	3.177e-05	0.0005	0	0.016	0.51853	D	0.452	0.18560	T	0.001	0.07471	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	1.485	0.37223	L	7.16	0.00448	T	-1.23	0.31981	N	0.044	0.02861	-0.9655	0.38112	T	0.002	0.00497	T	8	0.018143237	0.00392	T	0.00295	0.06280	T	0.025	0.05312	0.321	0.30064	0.233785782151	0.22967	0.08289795060291379	0.08224	0.208071757028	0.23278	.	.	.	0.005634	0.05080	T	-0.276028	0.11093	T	-0.634272	0.10092	T	0.0382154940498127	0.03370	T	.	.	.	0.20277482	0.42333	0.12719326	0.30622	0.20277482	0.42333	0.12719326	0.30622	-6.204	0.49228	T	.	.	0.108	0.27583	B	.;.;.	.;.;.	0.477189	0.08466	5.226	0.92327634821417748	0.21724	0.01652	0.05304	N	AEFBI	0.030493	0.03080	N	-0.939294173757901	0.09934	0.472429	-1.08733637988935	0.07949	0.388757	2.17517074619218E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.719	0.719	0.17362	0.965000	0.28916	.	.	0.280000	0.18617	0.001000	0.13787	0.000000	0.08366	0.006000	0.07323	.	.	.	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	237.23	74	chr19	54830110	.	A	T	237.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2;DP=498;ExcessHet=0;FS=33.246;MLEAC=1;MLEAF=0.083;MQ=58.46;MQRankSum=-10.47;QD=1.17;ReadPosRankSum=-2.289;SOR=3.548	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:183,19:202:99:0|1:54830110_A_T:247,0,7521:54830110	5	0	1	1
chr19	54830166	54830166	G	C	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.G1226C:p.R409T,KIR3DL1:NM_013289:exon9:c.G1226C:p.R409T	.	489	977	43	13	0	69	0.0341078	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.00280289760826	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1402897436	0	6.612e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	4.13e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.09	0.63226	T	0.404	0.21545	T	0.008	0.14655	B	0.016	0.17743	B	.	.	.	.	1	0.08975	N	2.205	0.62170	M	7.22	0.00442	T	-2.14	0.48523	N	0.155	0.19861	-0.9566	0.39807	T	0.001	0.00438	T	8	0.05749756	0.06613	T	0.002803	0.05840	T	0.014	0.01968	0.257	0.19845	0.0611884634855	0.05136	0.14103244144494176	0.14026	0.341241828603	0.36058	.	.	.	0.005761	0.05208	T	-0.327897	0.06272	T	-0.708778	0.05358	T	0.0654255235430696	0.07993	T	.	.	.	0.077683635	0.17647	0.09936527	0.23722	0.077683635	0.17647	0.09936527	0.23722	-8.799	0.66394	D	.	.	0.112	0.22573	B	.;.;.	.;.;.	-0.127859	0.03478	0.649	0.55859222650876794	0.05430	0.00622	0.02746	N	AEFBI	0.041929	0.06440	N	-1.14611797788255	0.05843	0.2674817	-1.32606166375958	0.04096	0.1925055	3.25109135686022E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.719	-1.44	0.08391	-0.857000	0.04394	.	.	0.254000	0.18348	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	.	.	.	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	.	.	.	.	.	.	.	.	0.25	3097.96	149	chr19	54830166	.	G	C	3097.96	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-3.882;DP=993;ExcessHet=1.1394;FS=0;MLEAC=3;MLEAF=0.25;MQ=57.7;MQRankSum=-15.91;QD=4.08;ReadPosRankSum=0.554;SOR=0.652	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:207,57:264:99:0|1:54830110_A_T:1770,0,8520:54830110	3	0	3	1
chr19	54830177	54830177	C	T	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.C1237T:p.R413C,KIR3DL1:NM_013289:exon9:c.C1237T:p.R413C	.	487	975	47	13	0	73	0.036085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00205586965996	.	0.000199681	2.628e-05	0.0002	9.156e-05	0	0	0	0	0	3.84e-05	1	26028	rs573252093	1.446e-05	8.441e-05	1.723e-05	1.165e-05	0.0002	9.44e-06	7.68e-06	4.146e-05	2.416e-05	0.0001	9.576e-05	0	0	0	0.0002	7.555e-06	1.754e-05	2.641e-05	4.289e-05	0.0001	5.533e-05	2.959e-05	0.0002	1.84e-05	1.211e-05	6.588e-05	4.499e-05	0.0002	0	0	0	0	0	0	0	0	0	0.116	0.49117	T	0.123	0.35970	T	0.004	0.12183	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	1.61	0.41143	L	7.15	0.00445	T	-2.1	0.47852	N	0.103	0.14196	-0.9722	0.36734	T	0.001	0.00408	T	8	0.05926463	0.07096	T	0.002056	0.03748	T	0.019	0.03383	.	.	0.124217242631	0.12060	0.14280557230036842	0.14203	0.306309179821	0.32927	.	.	.	0.004918	0.04343	T	-0.530801	0.00380	T	-0.694259	0.06145	T	0.0218732288632759	0.00894	T	.	.	.	0.11626438	0.27425	0.10402554	0.24975	0.11626438	0.27425	0.10402554	0.24975	-8.101	0.62445	D	.	.	0.106	0.21541	B	.;.;.	.;.;.	1.217707	0.16111	12.33	0.46755602533799501	0.03769	0.01115	0.04074	N	AEFBI	0.054109	0.09809	N	-1.01848295800702	0.08221	0.384663	-1.15555151539374	0.06668	0.3217553	2.10729526415108E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.569	0.569	0.16525	0.650000	0.24544	.	.	0.228000	0.18124	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	.	.	.	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	.	.	.	.	.	.	.	.	0.25	3104.05	149	chr19	54830177	.	C	T	3104.05	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-3.763;DP=1021;ExcessHet=1.1394;FS=0.732;MLEAC=3;MLEAF=0.25;MQ=57.73;MQRankSum=-16.53;QD=3.94;ReadPosRankSum=1.89;SOR=0.602	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:227,57:284:99:0|1:54830110_A_T:1710,0,9360:54830110	3	0	3	1
chr19	54830178	54830178	G	C	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.G1238C:p.R413P,KIR3DL1:NM_013289:exon9:c.G1238C:p.R413P	.	488	973	48	13	0	74	0.0366337	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.00338705456639	.	.	.	.	.	.	.	.	.	.	.	.	.	rs984592565	2.892e-06	0.0003	0	5.825e-06	1.321e-05	6.8e-07	4.6e-07	7.5e-07	2.1e-07	0	0	0	0	0	0	2.833e-06	0	1.321e-05	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.075	0.38407	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0.215	0.09537	N	7.23	0.00430	T	-0.45	0.24676	N	0.05	0.04072	-0.9082	0.47073	T	0.001	0.00255	T	8	0.05937442	0.07126	T	0.003387	0.07603	T	0.016	0.02506	0.366	0.37361	0.0401082797425	0.02173	0.09140339593159023	0.09073	0.323214894628	0.34489	.	.	.	0.001071	0.00595	T	-0.371148	0.03536	T	-0.770905	0.02738	T	0.0905973222850487	0.11288	T	.	.	.	0.09353458	0.21971	0.14968953	0.35334	0.09353458	0.21970	0.14968953	0.35333	-5.275	0.49736	T	.	.	0.093	0.14797	B	.;.;.	.;.;.	-0.439146	0.02071	0.191	0.43628759508592302	0.03298	0.00008	0.00134	N	AEFBI	0.019406	0.00671	N	-1.59627941012569	0.01283	0.05585422	-1.71860603525739	0.01058	0.04746591	9.63160874456533E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.569	-1.14	0.09241	-0.491000	0.06555	.	.	-0.821000	0.02958	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	.	.	.	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	.	.	.	.	.	.	.	.	0.25	3146.05	149	chr19	54830178	.	G	C	3146.05	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-3.047;DP=1022;ExcessHet=1.1394;FS=0.732;MLEAC=3;MLEAF=0.25;MQ=57.7;MQRankSum=-16.56;QD=3.99;ReadPosRankSum=2.09;SOR=0.62	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:228,57:285:99:0|1:54830110_A_T:1707,0,9402:54830110	3	0	3	1
chr19	54830217	54830217	T	C	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.T1277C:p.I426T,KIR3DL1:NM_013289:exon9:c.T1277C:p.I426T	.	490	959	60	13	0	86	0.0429142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.00252436282351	.	.	.	.	.	.	.	.	.	.	.	.	.	rs199822561	1.447e-06	6.26e-05	1.437e-06	1.458e-06	1.89e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.89e-06	0	0	0	8.482e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.053	0.38863	T	0.707	0.18732	T	0.001	0.07471	B	0.007	0.12992	B	.	.	.	.	1	0.08975	N	1.51	0.38214	L	7.01	0.00465	T	1.33	0.01107	N	0.136	0.15469	-0.9482	0.41279	T	0.001	0.00378	T	8	0.053025752	0.05429	T	0.002524	0.05037	T	0.031	0.07369	0.329	0.31357	0.0138822411134	0.00435	0.05436384389562955	0.05378	0.2842650222	0.30852	.	.	.	0.00346	0.02869	T	-0.377913	0.03211	T	-0.780622	0.02435	T	0.109476455881908	0.13368	T	.	.	.	0.060243543	0.12340	0.12511967	0.30151	0.060243543	0.12340	0.12511967	0.30150	-2.004	0.06104	T	.	.	0.127	0.34160	B	.;.;.	.;.;.	-0.422644	0.02129	0.203	0.1578796069653349	0.00399	0.00213	0.01210	N	AEFBI	0.035053	0.04446	N	-1.5374920893244	0.01609	0.07032718	-1.65054767699224	0.01373	0.06202174	1.82473746354949E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.569	-0.727	0.10603	-0.855000	0.04403	.	.	-2.187000	0.00360	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	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	.	.	.	.	.	.	.	.	0.25	3260.05	149	chr19	54830217	.	T	C	3260.05	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-4.548;DP=1015;ExcessHet=1.1394;FS=0;MLEAC=3;MLEAF=0.25;MQ=57.62;MQRankSum=-16.68;QD=4.17;ReadPosRankSum=4.32;SOR=0.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:232,57:289:99:0|1:54830110_A_T:1695,0,9570:54830110	3	0	3	1
chr19	54830219	54830219	T	A	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.T1279A:p.L427M,KIR3DL1:NM_013289:exon9:c.T1279A:p.L427M	.	490	958	61	13	0	87	0.0434348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.00220836784564	.	.	1.752e-05	0	0	0	0	3.156e-05	0	0	1.29e-05	2	154602	rs200821495	2.17e-06	0.0009	0	4.372e-06	9.449e-07	5.8e-07	1.6e-07	.	.	0	0	0	0	0	0	9.449e-07	3.512e-05	0	7.376e-06	0.0005	1.429e-05	0	1.625e-05	0	0	.	.	0	0	0	0	0	0	0	1.625e-05	0	0	0.036	0.43708	D	0.044	0.49942	D	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	-0.55	0.02420	N	7.15	0.00440	T	0.02	0.07155	N	0.097	0.09066	-0.9488	0.41177	T	0.001	0.00255	T	8	0.059903473	0.07273	T	0.002208	0.04178	T	0.033	0.08068	0.343	0.33626	0.0611884634855	0.05136	0.06365489919836881	0.06304	0.217370059748	0.24259	.	.	.	0.001032	0.00564	T	-0.359885	0.04136	T	-0.754727	0.03305	T	0.0475029693969738	0.05054	T	.	.	.	0.12672478	0.29674	0.09114859	0.21413	0.12672478	0.29673	0.09114859	0.21413	-2.726	0.11147	T	.	.	0.087	0.11027	B	.;.;.	.;.;.	-0.079285	0.03768	0.787	0.57251924956472933	0.05728	0.00098	0.00638	N	AEFBI	0.020111	0.00761	N	-1.48858900803104	0.01930	0.08470691	-1.56128690325375	0.01899	0.08661785	1.77709840166136E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.569	0.569	0.16525	-0.346000	0.07809	.	.	-2.056000	0.00415	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	.	.	.	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	.	.	.	.	.	.	.	.	0.25	3269.05	149	chr19	54830219	.	T	A	3269.05	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-4.616;DP=1013;ExcessHet=1.1394;FS=0;MLEAC=3;MLEAF=0.25;MQ=57.62;MQRankSum=-16.78;QD=4.2;ReadPosRankSum=3.98;SOR=0.653	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:230,57:287:99:0|1:54830110_A_T:1701,0,9486:54830110	3	0	3	1
chr19	54830226	54830226	C	T	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.C1286T:p.T429M,KIR3DL1:NM_013289:exon9:c.C1286T:p.T429M	.	491	956	62	13	0	88	0.044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.00266394809513	7.9e-05	.	4.38e-05	0.0004	0	0	0	1.578e-05	0	0	7.12e-05	11	154602	rs72629105	2.892e-06	0.0008	1.435e-06	4.369e-06	2.833e-06	6.8e-07	4.6e-07	7.5e-07	2.1e-07	0	0	0	0	0	0	2.833e-06	1.754e-05	0	2.894e-05	0.0005	4.202e-05	1.496e-05	7.701e-05	9.76e-06	5.56e-06	2.041e-05	1.066e-05	7.701e-05	0	0	0	0	0	0	1.605e-05	0	0	0.054	0.52492	T	0.299	0.22359	T	0.122	0.26746	B	0.025	0.20508	B	.	.	.	.	1	0.08975	N	0.95	0.23787	L	7.16	0.00445	T	0.53	0.04022	N	0.061	0.03726	-0.9699	0.37220	T	0.001	0.00287	T	8	0.04146093	0.02803	T	0.002664	0.05434	T	0.003	0.00094	.	.	0.0482279557977	0.04254	0.1972985884992638	0.19646	0.240531653146	0.26595	.	.	.	0.001518	0.00960	T	-0.551009	0.00288	T	-0.749827	0.03492	T	0.0218708623688418	0.00894	T	.	.	.	0.024346609	0.01257	0.069218	0.14554	0.024346609	0.01257	0.069218	0.14554	-2.712	0.13893	T	.	.	0.079	0.09385	B	.;.;.	.;.;.	-0.578230	0.01633	0.113	0.60277366403116528	0.06425	0.00031	0.00285	N	AEFBI	0.021009	0.00889	N	-1.21141140468678	0.04833	0.218967	-1.35673268790221	0.03727	0.1744511	2.06319095939035E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.569	-1.01	0.09650	-1.643000	0.02106	.	.	-2.138000	0.00378	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	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	.	.	.	.	.	.	.	.	0.25	3182.05	149	chr19	54830226	.	C	T	3182.05	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-4.055;DP=1015;ExcessHet=1.1394;FS=0;MLEAC=3;MLEAF=0.25;MQ=57.66;MQRankSum=-16.75;QD=4.1;ReadPosRankSum=2.84;SOR=0.652	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:230,56:286:99:0|1:54830110_A_T:1659,0,9489:54830110	3	0	3	1
chr19	54830253	54830253	C	-	exonic	KIR3DL1	.	frameshift deletion	KIR3DL1:NM_001322168:exon9:c.1313delC:p.S438Ffs*6,KIR3DL1:NM_013289:exon9:c.1313delC:p.S438Ffs*6	.	484	969	56	13	0	82	0.0405941	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.228e-07	4.922e-05	0	1.456e-06	9.442e-07	0	0	.	.	0	0	0	0	0	0	9.442e-07	0	0	0	4.801e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	2831.68	149	chr19	54830252	.	TC	T	2831.68	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-2.8;DP=951;ExcessHet=1.1394;FS=0;MLEAC=3;MLEAF=0.214;MQ=57.76;MQRankSum=-16.38;QD=3.97;ReadPosRankSum=-2.248;SOR=0.756	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:223,50:273:99:0|1:54830110_A_T:1428,0,9213:54830110	4	0	3	0
chr19	54830256	54830258	AAG	-	exonic	KIR3DL1	.	nonframeshift deletion	KIR3DL1:NM_001322168:exon9:c.1316_1318del:p.C439_T445delinsFLPISTTVRP*,KIR3DL1:NM_013289:exon9:c.1316_1318del:p.C439_T445delinsFLPISTTVRP*	.	491	962	56	13	0	82	0.0408774	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.446e-06	4.922e-05	1.435e-06	1.456e-06	1.888e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.888e-06	0	0	0	4.808e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	2798.01	149	chr19	54830255	.	AAAG	A	2798.01	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-1.896;DP=947;ExcessHet=1.1394;FS=0;MLEAC=3;MLEAF=0.25;MQ=57.79;MQRankSum=-16.41;QD=3.94;ReadPosRankSum=-2.077;SOR=0.742	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:224,50:274:99:0|1:54830110_A_T:1425,0,9255:54830110	3	0	3	1
chr19	54847203	54847203	T	0	exonic	KIR2DS1;KIR2DS2;KIR2DS3;KIR2DS4;KIR2DS5;KIR3DS1;LOC102725023;LOC112268355	.	.	.	.	377	455	672	5	13	695	0.428392	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	5890.45	371	chr19	54847203	.	T	*	5890.45	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-0.441;DP=2058;ExcessHet=3.6764;FS=2.419;MLEAC=3;MLEAF=0.214;MQ=59.3;MQRankSum=-3.065;QD=2.96;ReadPosRankSum=0.299;SOR=0.826	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:173,172:621:99:.:.:8706,2776,13321:.	4	0	3	0
chr19	54855625	54855625	A	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon5:c.A662T:p.Y221F,KIR3DL2:NM_006737:exon5:c.A662T:p.Y221F	.	417	757	348	0	0	348	0.186896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.000464580640836	.	.	.	.	.	.	.	.	.	.	.	.	.	rs953284565	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.973e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.297	0.22084	T	0.998	0.73220	D	0.957	0.69900	D	0.987012	0.08056	U	0.989616	1	0.08975	N	1.825	0.47900	L	5.76	0.00695	T	-2.9	0.60827	D	0.098	0.12770	-0.9144	0.46298	T	0.007	0.02518	T	10	0.1624504	0.30445	T	4.65E-4	0.00116	T	0.019	0.03383	0.518	0.61915	0.336892272479	0.33291	0.018868245159557127	0.01840	1.60845377238	0.88855	0.403694212437	0.25583	T	0.067962	0.33336	T	-0.305796	0.08124	T	-0.677031	0.07167	T	0.537836849689484	0.34024	D	.	.	.	0.19793491	0.41677	0.16741675	0.38624	0.19793491	0.41677	0.16741675	0.38624	-6.639	0.51350	T	.	.	0.148	0.32589	B	.;.	.;.	0.893731	0.12673	9.197	0.95973909104232413	0.28337	0.00299	0.01594	N	AEFBI	0.032299	0.03618	N	-0.732235372597301	0.15120	0.7592366	-0.957408281364291	0.10751	0.5435199	1.67992491567851E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.993	-0.254	0.12350	-0.950000	0.03999	.	.	-0.201000	0.08892	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5937:0.4063:0.0:0.0	3.712	0.07954	982	0.03397	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3571	6949.34	221	chr19	54855625	.	A	T	6949.34	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-0.929;DP=1073;ExcessHet=4.7409;FS=7.737;MLEAC=4;MLEAF=0.286;MQ=56.93;MQRankSum=-11.32;QD=7.22;ReadPosRankSum=1.77;SOR=0.66	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:242,96:338:99:0|1:54855608_TCTC_T:3303,0,9871:54855608	2	0	5	0
chr19	54855628	54855628	A	G	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon5:c.A665G:p.E222G,KIR3DL2:NM_006737:exon5:c.A665G:p.E222G	.	417	765	340	0	0	340	0.181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.0011106169865	.	.	.	.	.	.	.	.	.	.	.	.	.	rs985925024	6.844e-07	2.052e-06	1.362e-06	0	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	0	1.972e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.118	0.28148	T	0.271	0.22291	T	0.999	0.77913	D	0.99	0.78936	D	0.407241	0.04570	U	1.688890	1	0.08975	N	0.38	0.12130	N	5.81	0.00662	T	-1.77	0.41809	N	0.087	0.10769	-0.8640	0.50973	T	0.005	0.01833	T	10	0.0910846	0.15926	T	0.001111	0.01336	T	0.018	0.03083	0.409	0.44395	0.184867976434	0.18130	0.04741152337579393	0.04684	1.9288275753	0.93111	0.312949419022	0.12353	T	0.061579	0.31691	T	-0.358922	0.04191	T	-0.753343	0.03358	T	0.0479596368968487	0.05137	T	.	.	.	0.038775276	0.05231	0.055304885	0.09676	0.038775276	0.05230	0.055304885	0.09675	-4.68	0.36840	T	.	.	0.068	0.03552	B	.;.	.;.	0.681116	0.10498	7.211	0.93748499984386979	0.23687	0.00095	0.00623	N	AEFBI	0.022196	0.01079	N	-0.906883655702748	0.10679	0.5115434	-1.03393035090106	0.09045	0.4478514	2.60640366773723E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.993	0.993	0.18943	-0.810000	0.04612	.	.	-0.201000	0.08892	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	1.0:0.0:0.0:0.0	4.242	0.10106	982	0.03397	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2857	6738.04	224	chr19	54855628	.	A	G	6738.04	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-2.16;DP=1085;ExcessHet=2.5225;FS=9.283;MLEAC=4;MLEAF=0.286;MQ=57.09;MQRankSum=-11.7;QD=6.94;ReadPosRankSum=1.65;SOR=0.686	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:248,96:344:99:0|1:54855608_TCTC_T:3285,0,10054:54855608	3	0	4	0
chr19	54855667	54855668	AG	-	exonic	KIR3DL2	.	frameshift deletion	KIR3DL2:NM_001242867:exon5:c.704_705del:p.Q235Rfs*10,KIR3DL2:NM_006737:exon5:c.704_705del:p.Q235Rfs*10	.	415	977	130	0	0	130	0.06238	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	2402.69	212	chr19	54855666	.	CAG	C	2402.69	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-1.283;DP=875;ExcessHet=1.1394;FS=16.108;MLEAC=3;MLEAF=0.214;MQ=57.38;MQRankSum=-11.45;QD=3.59;ReadPosRankSum=-1.126;SOR=1.557	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:269,55:324:99:0|1:54855666_CAG_C:1478,0,11003:54855666	4	0	3	0
chr19	54855669	54855669	-	CA	exonic	KIR3DL2	.	frameshift insertion	KIR3DL2:NM_001242867:exon5:c.706_707insCA:p.G237Qfs*5,KIR3DL2:NM_006737:exon5:c.706_707insCA:p.G237Qfs*5	.	418	973	131	0	0	131	0.0630717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	2411.69	212	chr19	54855669	.	G	GCA	2411.69	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-1.555;DP=844;ExcessHet=1.1394;FS=17.888;MLEAC=3;MLEAF=0.214;MQ=57.64;MQRankSum=-13.41;QD=3.62;ReadPosRankSum=-1.826;SOR=1.61	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:266,55:321:99:0|1:54855666_CAG_C:1487,0,10938:54855666	4	0	3	0
chr19	54855702	54855702	T	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon5:c.T739A:p.W247R,KIR3DL2:NM_006737:exon5:c.T739A:p.W247R	.	418	1096	7	0	1	8	0.00318327	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.000513965063079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.844e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.23	0.25827	T	0.0	0.02946	B	0.002	0.06944	B	0.007305	0.01163	N	6.284920	1	0.08975	N	-0.905	0.01334	N	4.12	0.02891	T	2.77	0.00192	N	0.074	0.05287	-0.9554	0.40024	T	0.004	0.01159	T	10	0.0278669	0.00925	T	5.14E-4	0.00163	T	0.006	0.00375	0.383	0.40134	0.148003135375	0.14442	0.03313264070354783	0.03261	2.56269628182	0.97972	0.291219711304	0.09100	T	0.013561	0.11709	T	-0.45857	0.01003	T	-0.896481	0.00528	T	0.0652051243997332	0.07961	T	.	.	.	0.038792573	0.05237	0.03620834	0.03021	0.038792573	0.05237	0.03620834	0.03021	-1.24	0.01520	T	.	.	0.056	0.00444	B	.;.	.;.	-1.017771	0.00746	0.023	0.28703814929394555	0.01487	0.00064	0.00463	N	AEFBI	0.018163	0.00530	N	-2.08547964821295	0.00138	0.005896707	-2.12188863542438	0.00167	0.007337207	3.705165035272E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.993	-1.99	0.07047	-2.672000	0.00915	.	.	-3.099000	0.00124	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4704:0.3018:0.2278	4.218	0.09998	982	0.03397	Immunoglobulin|Immunoglobulin subtype;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	84.24	39	chr19	54855702	.	T	A	84.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.78;DP=628;ExcessHet=0.3476;FS=39.255;MLEAC=2;MLEAF=0.143;MQ=58.45;MQRankSum=-11.07;QD=0.2;ReadPosRankSum=-3.308;SOR=4.23	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:271,22:297:67:.:.:67,0,11461:.	5	0	2	0
chr19	54859084	54859084	C	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_006737:exon6:c.C955T:p.P319S	.	416	1029	76	1	0	78	0.0365169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.000624441967726	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.026e-05	1.231e-05	4.085e-06	1.651e-05	1.259e-05	6.16e-06	4.89e-06	7.31e-06	5.72e-06	0	0	0	0	0	0	1.259e-05	1.656e-05	0	6.572e-06	2.625e-05	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.089	0.32141	T	0.425	0.13912	T	0.886	0.48745	P	0.383	0.43945	B	.	.	.	.	1	0.08975	N	0.41	0.12415	N	7.02	0.00454	T	-2.97	0.61865	D	0.064	0.03613	-0.8674	0.50724	T	0.001	0.00467	T	9	0.09483707	0.16894	T	6.24E-4	0.00303	T	0.064	0.18567	0.248	0.18447	0.117506650769	0.11410	0.04836548424617068	0.04779	1.71135710155	0.90445	0.356161952019	0.18825	T	0.059672	0.31178	T	-0.393334	0.02559	T	-0.802774	0.01834	T	0.34234310394307	0.26717	T	.	.	.	0.039089512	0.05330	0.078269705	0.17516	0.039089512	0.05330	0.078269705	0.17516	-2.822	0.08388	T	.	.	0.088	0.11606	B	.	.	0.788312	0.11583	8.178	0.84617625941685071	0.15397	0.00022	0.00232	N	AEFGBI	0.014378	0.00226	N	-0.746472741392689	0.14729	0.7361992	-0.985325967743381	0.10114	0.5073769	0.00905559668788433	0.11788	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.851	-0.604	0.11043	-0.027000	0.12319	.	.	-0.464000	0.05108	0.037000	0.20830	0.000000	0.08366	0.012000	0.09680	0.0:0.3552:0.0:0.6448	2.974	0.05570	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2143	2045.72	305	chr19	54859084	.	C	T	2045.72	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-1.416;DP=1054;ExcessHet=1.1394;FS=0.839;MLEAC=3;MLEAF=0.214;MQ=44.48;MQRankSum=-6.839;QD=2.27;ReadPosRankSum=-1.443;SOR=0.794	GT:AD:DP:GQ:PL	0/1:312,49:361:99:1122,0,7802	4	0	3	0
chr19	54859097	54859098	GG	-	exonic	KIR3DL2	.	frameshift deletion	KIR3DL2:NM_006737:exon6:c.968_969del:p.W323Sfs*62	.	418	1027	76	1	0	78	0.0365854	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	2008.68	307	chr19	54859096	.	TGG	T	2008.68	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-1.186;DP=1064;ExcessHet=1.1394;FS=1.826;MLEAC=3;MLEAF=0.214;MQ=43.56;MQRankSum=-5.98;QD=2.2;ReadPosRankSum=1.01;SOR=0.812	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:323,49:372:99:0|1:54859096_TGG_T:1085,0,13395:54859096	4	0	3	0
chr19	54859099	54859099	-	AT	exonic	KIR3DL2	.	frameshift insertion	KIR3DL2:NM_006737:exon6:c.970_971insAT:p.P324Hfs*20	.	419	1023	79	1	0	81	0.0380818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	2008.68	307	chr19	54859099	.	C	CAT	2008.68	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-1.502;DP=1063;ExcessHet=1.1394;FS=1.826;MLEAC=3;MLEAF=0.214;MQ=43.38;MQRankSum=-5.98;QD=2.2;ReadPosRankSum=1.2;SOR=0.812	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:323,49:372:99:0|1:54859096_TGG_T:1085,0,13395:54859096	4	0	3	0
chr19	54859126	54859126	T	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_006737:exon6:c.T997A:p.S333T	.	422	1024	75	1	0	77	0.0362353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.000592853644405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.969e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	0.952	0.02603	T	0.002	0.09854	B	0.008	0.13708	B	.	.	.	.	1	0.08975	N	-1.145	0.00921	N	7.11	0.00444	T	1.51	0.00728	N	0.047	0.01911	-0.9540	0.40274	T	0.000	0.00114	T	9	0.020475209	0.00472	T	5.93E-4	0.00260	T	0.058	0.16647	0.251	0.18912	0.0482279557977	0.04254	0.03848246725599166	0.03794	1.5778815892	0.88350	0.446997404099	0.31534	T	0.001513	0.00960	T	-0.446873	0.01178	T	-0.879678	0.00656	T	0.0579299394948747	0.06839	T	.	.	.	0.035080478	0.04062	0.03344365	0.02239	0.035080478	0.04062	0.03344365	0.02239	-2.536	0.06032	T	.	.	0.060	0.00949	B	.	.	-0.849207	0.01014	0.042	0.38981453092339813	0.02662	0.00032	0.00291	N	AEFGBI	0.016009	0.00335	N	-2.17322769998613	0.00088	0.003762631	-2.19645317612939	0.00114	0.005011955	0.249042233931105	0.18659	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.851	-1.7	0.07721	-2.450000	0.01084	.	.	-2.250000	0.00337	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2879:0.2416:0.223:0.2475	0.066	0.00016	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2143	1930.72	277	chr19	54859126	.	T	A	1930.72	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-1.72;DP=979;ExcessHet=1.1394;FS=2.94;MLEAC=3;MLEAF=0.214;MQ=42.6;MQRankSum=-4.935;QD=2.36;ReadPosRankSum=4.2;SOR=0.532	GT:AD:DP:GQ:PL	0/1:289,44:333:99:981,0,7568	4	0	3	0
chr19	54865810	54865810	T	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T955C:p.C319R,KIR3DL2:NM_006737:exon7:c.T1006C:p.C336R	.	403	855	264	0	0	264	0.133739	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00110318286967	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs796466301	7.457e-05	0.0011	7.798e-05	7.115e-05	0.0002	6.259e-05	5.845e-05	9.469e-05	7.503e-05	0.0001	0.0002	0.0002	5.078e-05	0	0	6.593e-05	3.482e-05	0.0002	0	3.285e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.134	0.26300	T	0.451	0.12920	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999999	0.08975	N	-1.04	0.01097	N	7.31	0.00423	T	0.16	0.05217	N	0.083	0.10769	-0.9760	0.35904	T	0.001	0.00188	T	8	0.04906112	0.04441	T	0.001103	0.01312	T	0.009	0.00846	0.442	0.49811	0.119812018005	0.11559	0.09452283820028774	0.09384	2.56269628182	0.97972	0.333641290665	0.15483	T	7.89E-4	0.00376	T	-0.415095	0.01840	T	-0.834032	0.01193	T	0.059155964491615	0.07034	T	.	.	.	0.106677674	0.25223	0.1821225	0.41119	0.106677674	0.25223	0.1821225	0.41119	1.528	0.00757	T	.	.	0.054	0.02639	B	.;.	.;.	-0.404554	0.02196	0.218	0.45649119719455972	0.03599	0.00039	0.00329	N	AEFBI	0.015175	0.00277	N	-1.72878488187199	0.00744	0.03215037	-1.79035493063549	0.00791	0.03527497	4.27305037267331E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.609	-0.763	0.10475	-1.665000	0.02067	.	.	-1.747000	0.00693	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	11033.2	173	chr19	54865810	.	T	C	11033.2	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-0.498;DP=897;ExcessHet=2.5225;FS=3.367;MLEAC=4;MLEAF=0.333;MQ=57.82;MQRankSum=-8.299;QD=13.54;ReadPosRankSum=1.77;SOR=0.478	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:133,119:252:99:0|1:54865794_T_C:4596,0,5226:54865794	2	0	4	1
chr19	54865825	54865825	G	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.G970A:p.V324I,KIR3DL2:NM_006737:exon7:c.G1021A:p.V341I	.	402	857	263	0	0	263	0.13303	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.00055253107299	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796782943	6.843e-07	1.368e-06	0	1.376e-06	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	6.575e-06	6.567e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.164	0.24468	T	0.419	0.14158	T	0.002	0.09854	B	0.01	0.14941	B	.	.	.	.	1	0.08975	N	1.11	0.28643	L	7.18	0.00448	T	-0.21	0.10656	N	0.072	0.04547	-0.9746	0.36213	T	0.001	0.00348	T	9	0.07256496	0.10849	T	5.53E-4	0.00208	T	0.008	0.00669	0.367	0.37524	0.241078983079	0.23725	0.04157770004610267	0.04102	0.0027843863192	0.00238	0.408555775881	0.26256	T	0.002608	0.01994	T	-0.428714	0.01509	T	-0.853595	0.00915	T	0.0821466851244207	0.10259	T	.	.	.	0.022919703	0.00990	0.029417474	0.01278	0.022919703	0.00989	0.029417474	0.01278	-3.748	0.20029	T	.	.	0.070	0.08033	B	.;.	.;.	-1.320914	0.00420	0.008	0.32275471755800766	0.01862	0.00127	0.00790	N	AEFBI	0.021088	0.00901	N	-1.46961496636215	0.02067	0.09089394	-1.60118741659373	0.01648	0.07480784	3.08807583727834E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-1.58	0.08029	-0.835000	0.04494	.	.	-0.482000	0.05067	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.5465:0.0:0.4535:0.0	3.986	0.09005	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	10790.2	177	chr19	54865825	.	G	A	10790.2	.	AC=4;AF=0.333;AN=12;BaseQRankSum=0.734;DP=920;ExcessHet=2.5225;FS=2.565;MLEAC=4;MLEAF=0.333;MQ=57.94;MQRankSum=-8.33;QD=12.91;ReadPosRankSum=1.81;SOR=0.525	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:146,119:265:99:0|1:54865794_T_C:4557,0,5772:54865794	2	0	4	1
chr19	54865847	54865847	T	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T992C:p.V331A,KIR3DL2:NM_006737:exon7:c.T1043C:p.V348A	.	401	853	268	0	0	268	0.135765	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.000400803919065	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1224475740	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.162	0.29823	T	0.986	0.02387	T	0.98	0.59353	D	0.966	0.71341	D	0.029014	0.01695	N	4.101880	1	0.08975	N	0.395	0.12235	N	7.27	0.00437	T	-0.92	0.24676	N	0.126	0.11912	-0.9172	0.45931	T	0.002	0.00585	T	10	0.07284033	0.10928	T	4.01E-4	0.00071	T	0.065	0.18881	0.494	0.58206	0.0297737177859	0.01360	0.06284081072503588	0.06223	0.00213134346531	0.00180	0.403696119785	0.25583	T	0.001044	0.00572	T	-0.400058	0.02313	T	-0.812432	0.01611	T	0.139050558209419	0.16193	T	.	.	.	0.031689838	0.03054	0.03537673	0.02778	0.031689838	0.03053	0.03537673	0.02778	-6.306	0.48770	T	.	.	0.101	0.17488	B	.;.	.;.	0.454312	0.08244	4.984	0.26484307624393894	0.01271	0.00052	0.00397	N	AEFBI	0.015930	0.00328	N	-1.33586624352162	0.03274	0.1459584	-1.54872497766398	0.01985	0.0906649	1.28470643324931E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-1.58	0.08029	-0.401000	0.07293	.	.	-0.458000	0.05121	0.000000	0.06391	0.000000	0.08366	0.033000	0.13494	0.0:0.5995:0.0:0.4005	5.878	0.18089	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	10604.2	181	chr19	54865847	.	T	C	10604.2	.	AC=4;AF=0.333;AN=12;BaseQRankSum=3.01;DP=935;ExcessHet=2.5225;FS=2.595;MLEAC=4;MLEAF=0.333;MQ=57.92;MQRankSum=-8.505;QD=12.43;ReadPosRankSum=1.13;SOR=0.832	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:159,116:275:99:0|1:54865794_T_C:4392,0,6327:54865794	2	0	4	1
chr19	54865852	54865852	T	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T997A:p.F333I,KIR3DL2:NM_006737:exon7:c.T1048A:p.F350I	.	399	856	267	0	0	267	0.134917	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.000552976428505	.	.	8.242e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs2915986	3.52e-06	3.467e-06	4.204e-06	2.829e-06	3.699e-06	1.03e-06	7.5e-07	8.7e-07	5.8e-07	0	0	0	0	0	0	3.699e-06	1.7e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.520826	0.11743	N	0.610798	1	0.08975	N	-2.095	0.00157	N	7.34	0.00418	T	2.41	0.00335	N	0.177	0.19055	-0.9514	0.40730	T	0.000	0.00075	T	10	0.028288513	0.00963	T	5.53E-4	0.00208	T	0.025	0.05312	0.361	0.36548	0.0401082797425	0.02173	0.037563278247634765	0.03702	0.00194719441549	0.00165	0.439581662416	0.30520	T	0.002307	0.01700	T	-0.359524	0.04156	T	-0.754208	0.03325	T	0.102266789170519	0.12604	T	.	.	.	0.029341966	0.02414	0.027775709	0.00957	0.029341966	0.02413	0.027775709	0.00957	1.774	0.00144	T	.	.	0.031	0.00001	B	.;.	.;.	-1.192069	0.00539	0.013	0.21394745277116367	0.00813	0.00027	0.00265	N	AEFBI	0.015044	0.00268	N	-2.17185589876208	0.00089	0.003788383	-2.12745077528888	0.00162	0.00713515	4.11374997373906E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-0.556	0.11213	-3.473000	0.00511	.	.	-1.423000	0.01123	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.3789:0.3119:0.0:0.3092	1.833	0.02945	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	10760.2	184	chr19	54865852	.	T	A	10760.2	.	AC=4;AF=0.333;AN=12;BaseQRankSum=0.709;DP=942;ExcessHet=2.5225;FS=1.848;MLEAC=4;MLEAF=0.333;MQ=57.93;MQRankSum=-8.551;QD=12.5;ReadPosRankSum=0.389;SOR=0.847	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:160,119:279:99:0|1:54865794_T_C:4515,0,6360:54865794	2	0	4	1
chr19	54865864	54865864	C	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.C1009A:p.L337I,KIR3DL2:NM_006737:exon7:c.C1060A:p.L354I	.	400	855	267	0	0	267	0.135053	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.000772956067362	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1296399738	8.417e-06	0.0011	1.256e-05	4.23e-06	7.065e-05	4.49e-06	3.55e-06	1.874e-05	1.019e-05	0	7.065e-05	0	0	1.911e-05	0	3.683e-06	0	4.841e-05	0	2.628e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.509	0.07521	T	1.0	0.01155	T	0.01	0.15535	B	0.009	0.14300	B	0.025651	0.01634	N	972.142000	1	0.08975	N	-0.22	0.03977	N	6.79	0.00488	T	1.13	0.01297	N	0.193	0.21188	-0.8671	0.50746	T	0.001	0.00287	T	10	0.037043363	0.02035	T	7.73E-4	0.00568	T	0.013	0.01715	0.474	0.55020	0.0551355673512	0.04727	0.03483597995631442	0.03430	0.00231030591297	0.00198	0.440028011799	0.30580	T	0.003421	0.02829	T	-0.38056	0.03091	T	-0.784425	0.02323	T	0.24141052365303	0.22484	T	.	.	.	0.02956708	0.02474	0.027299805	0.00872	0.02956708	0.02473	0.027299805	0.00872	-2.832	0.08482	T	.	.	0.067	0.02428	B	.;.	.;.	-1.733188	0.00181	0.003	0.39800349715696198	0.02769	0.00031	0.00285	N	AEFBI	0.015044	0.00268	N	-2.51786959481438	0.00014	0.0006260781	-2.5670260733213	0.00016	0.0007120855	0.00421926217040744	0.10461	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.756	-1.51	0.08207	-0.986000	0.03857	.	.	-4.822000	0.00020	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4531:0.5469:0.0:0.0	6.404	0.20859	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	10694.2	180	chr19	54865864	.	C	A	10694.2	.	AC=4;AF=0.333;AN=12;BaseQRankSum=0.957;DP=920;ExcessHet=2.5225;FS=1.162;MLEAC=4;MLEAF=0.333;MQ=57.99;MQRankSum=-7.626;QD=12.76;ReadPosRankSum=-0.519;SOR=0.831	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:154,115:269:99:0|1:54865794_T_C:4365,0,6120:54865794	2	0	4	1
chr19	54865870	54865870	C	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.C1015T:p.L339F,KIR3DL2:NM_006737:exon7:c.C1066T:p.L356F	.	404	855	263	0	0	263	0.1333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.000653011748056	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1338748485	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.749	0.05152	T	0.137	0.33894	T	0.999	0.77913	D	0.993	0.81110	D	0.959071	0.07705	U	1.034180	1	0.08975	N	1.67	0.42885	L	6.68	0.00576	T	-0.57	0.19297	N	0.144	0.15888	-0.9404	0.42552	T	0.004	0.01470	T	10	0.067382395	0.09379	T	6.53E-4	0.00350	T	0.046	0.12618	0.447	0.50629	0.0482279557977	0.04254	0.03706772757247262	0.03653	0.00235242544378	0.00204	0.419023424387	0.27702	T	0.010928	0.09812	T	-0.282597	0.10395	T	-0.643707	0.09401	T	0.149730133327665	0.17082	T	.	.	.	0.029493352	0.02453	0.034858517	0.02630	0.029493352	0.02453	0.034858517	0.02630	-4.814	0.34754	T	.	.	0.092	0.13362	B	.;.	.;.	0.692112	0.10608	7.311	0.86832300325457512	0.16803	0.00214	0.01215	N	AEFBI	0.025492	0.01754	N	-1.08763022436649	0.06870	0.3175028	-1.36423289139558	0.03641	0.1702588	3.46547822766471E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-1.58	0.08029	-0.403000	0.07275	.	.	-0.690000	0.04136	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.414:0.3227:0.2634	2.405	0.04140	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	10341.2	176	chr19	54865870	.	C	T	10341.2	.	AC=4;AF=0.333;AN=12;BaseQRankSum=1.96;DP=901;ExcessHet=2.5225;FS=1.159;MLEAC=4;MLEAF=0.333;MQ=58.11;MQRankSum=-7.569;QD=12.6;ReadPosRankSum=-1.403;SOR=0.771	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:149,112:261:99:0|1:54865794_T_C:4254,0,5919:54865794	2	0	4	1
chr19	54865885	54865885	T	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T1030C:p.Y344H,KIR3DL2:NM_006737:exon7:c.T1081C:p.Y361H	.	413	843	266	0	0	266	0.13627	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.000928668473944	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs2915987	4.899e-06	0.0012	8.359e-06	1.406e-06	6.971e-05	2.04e-06	1.31e-06	1.849e-05	1.012e-05	0	6.971e-05	0	2.532e-05	0	0	1.838e-06	0	1.202e-05	6.588e-06	7.887e-05	0	1.349e-05	2.418e-05	0	0	.	.	2.418e-05	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	0.639	0.06992	T	0.001	0.07471	B	0.004	0.10090	B	0.000834	0.00693	N	964.490000	1	0.08975	N	-1.885	0.00247	N	7.23	0.00430	T	2.95	0.00151	N	0.108	0.11054	-0.9038	0.47583	T	0.000	0.00114	T	10	0.02607575	0.00783	T	9.29E-4	0.00911	T	0.052	0.14661	0.509	0.60540	0.0806252709748	0.07271	0.05856973815727529	0.05797	0.00203136714976	0.00170	0.461200088263	0.33475	T	0.002548	0.01934	T	-0.543293	0.00320	T	-0.842333	0.01064	T	0.055993546621464	0.06523	T	.	.	.	0.01972407	0.00509	0.030124722	0.01429	0.01972407	0.00508	0.030124722	0.01428	-0.36	0.01497	T	.	.	0.058	0.01810	B	.;.	.;.	-1.085193	0.00658	0.018	0.29891803236966757	0.01608	0.00013	0.00170	N	AEFBI	0.013335	0.00174	N	-2.32571740057804	0.00040	0.001704577	-2.25685884815932	0.00083	0.003659575	2.27817266838019E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-0.356	0.11957	-0.520000	0.06338	.	.	-3.331000	0.00095	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7076:0.0:0.2924	4.953	0.13373	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	8983.25	149	chr19	54865885	.	T	C	8983.25	.	AC=4;AF=0.333;AN=12;BaseQRankSum=2.89;DP=827;ExcessHet=3.1439;FS=1.174;MLEAC=4;MLEAF=0.333;MQ=57.96;MQRankSum=-7.578;QD=11.99;ReadPosRankSum=-1.451;SOR=0.807	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:138,98:236:99:0|1:54865794_T_C:3700,0,5500:54865794	2	0	4	1
chr19	54865888	54865888	C	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.C1033T:p.R345C,KIR3DL2:NM_006737:exon7:c.C1084T:p.R362C	.	413	854	255	0	0	255	0.129903	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.00070768877162	.	.	8.387e-06	0	0	0	0	1.53e-05	0	0	1.29e-05	2	154602	rs138402445	1.848e-05	1.847e-05	1.635e-05	2.064e-05	2.988e-05	1.266e-05	1.085e-05	1.461e-05	1.227e-05	2.988e-05	0	0	0	1.881e-05	0	2.159e-05	1.656e-05	0	6.58e-06	6.569e-06	0	1.347e-05	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	0.049	0.50676	D	0.045	0.49390	D	0.998	0.73220	D	0.724	0.55036	P	0.003128	0.00941	U	719.913000	1	0.08975	N	2.18	0.61292	M	7.01	0.00466	T	-3.01	0.62518	D	0.177	0.25253	-0.9256	0.44772	T	0.005	0.01506	T	10	0.2351507	0.40570	T	7.08E-4	0.00454	T	0.076	0.22200	0.608	0.74063	0.377274123778	0.37341	0.04899285126321561	0.04842	0.00201032243671	0.00170	0.345741182566	0.17292	T	0.083108	0.36978	T	-0.280145	0.10652	T	-0.57654	0.14856	T	0.0767469108104706	0.09565	T	.	.	.	0.090401374	0.21151	0.072761305	0.15734	0.090401374	0.21151	0.072761305	0.15734	-5.468	0.41568	T	.	.	0.101	0.17488	B	.;.	.;.	1.700358	0.21659	15.29	0.78131642950480018	0.12168	0.00252	0.01388	N	AEFBI	0.036619	0.04908	N	-0.596483761697517	0.19051	0.9940639	-0.847282888163348	0.13353	0.6922374	2.43691630828497E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	0.792	0.17769	-0.462000	0.06781	.	.	-0.557000	0.04870	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:1.0:0.0:0.0	4.875	0.13011	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	8960.25	149	chr19	54865888	.	C	T	8960.25	.	AC=4;AF=0.333;AN=12;BaseQRankSum=2.33;DP=820;ExcessHet=3.1439;FS=0.558;MLEAC=4;MLEAF=0.333;MQ=57.94;MQRankSum=-7.578;QD=12.08;ReadPosRankSum=-1.934;SOR=0.79	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:135,99:234:99:0|1:54865794_T_C:3751,0,5371:54865794	2	0	4	1
chr19	54865893	54865893	G	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.G1038C:p.W346C,KIR3DL2:NM_006737:exon7:c.G1089C:p.W363C	.	419	848	255	0	0	255	0.130702	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.000545132984031	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs150217832	6.846e-07	6.84e-07	1.362e-06	0	8.998e-07	0	0	.	.	0	0	0	0	0	0	8.998e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.055	0.48080	T	0.999	0.77913	D	0.995	0.83170	D	0.004823	0.01046	U	6.630260	0.999999	0.08975	N	2.65	0.77586	M	7.12	0.00449	T	-8.3	0.96976	D	0.417	0.45709	-0.9378	0.42963	T	0.005	0.01578	T	10	0.46326482	0.59415	T	5.45E-4	0.00196	T	0.087	0.25287	0.69	0.82748	0.115124310173	0.11017	0.06623851051609898	0.06562	0.0020945074082	0.00176	0.531311154366	0.43219	T	0.117344	0.43737	T	-0.156731	0.27265	T	-0.46291	0.26281	T	0.919087171554565	0.57763	D	.	.	.	0.27311128	0.50379	0.25889528	0.51629	0.27311128	0.50379	0.25889528	0.51629	-5.179	0.48189	T	.	.	0.297	0.52760	B	.;.	.;.	1.876161	0.23830	16.17	0.96792341091729295	0.31116	0.02255	0.06527	N	AEFBI	0.039311	0.05691	N	-0.326071486107245	0.28160	1.550996	-0.608238508299626	0.19282	1.03379	2.43691630828497E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	0.792	0.17769	0.848000	0.27362	.	.	0.413000	0.20698	0.222000	0.24557	0.000000	0.08366	0.017000	0.10941	0.0:0.0:1.0:0.0	4.875	0.13011	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	8502.25	149	chr19	54865893	.	G	C	8502.25	.	AC=4;AF=0.333;AN=12;BaseQRankSum=2.54;DP=787;ExcessHet=3.1439;FS=1.185;MLEAC=4;MLEAF=0.333;MQ=57.92;MQRankSum=-7.514;QD=12.01;ReadPosRankSum=-1.557;SOR=0.815	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:125,94:219:99:0|1:54865794_T_C:3551,0,4925:54865794	2	0	4	1
chr19	54866420	54866420	C	G	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon7:c.C1105G:p.Q369E,KIR3DL2:NM_006737:exon8:c.C1156G:p.Q386E	.	420	771	331	0	0	331	0.176722	0.0001	0.016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.000487258690266	.	.	.	.	.	.	.	.	.	.	0.0002305	6	26028	rs973541788	6.841e-07	8.893e-06	0	1.375e-06	2.519e-05	0	0	.	.	0	0	0	2.519e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-1.08	0.01032	N	7.15	0.00440	T	1.42	0.00936	N	0.047	0.01911	-0.9881	0.33077	T	0.000	0.00114	T	9	0.028343678	0.00967	T	4.87E-4	0.00143	T	0.019	0.03383	0.432	0.48171	0.139678290688	0.13603	0.030255114197267258	0.02974	0.00231557063093	0.00198	0.46007502079	0.33320	T	0.001004	0.00540	T	-0.420253	0.01704	T	-0.841441	0.01077	T	0.0475666406958597	0.05065	T	.	.	.	0.048541624	0.08476	0.04803189	0.07048	0.048541624	0.08476	0.04803189	0.07048	-3.597	0.17813	T	.	.	0.049	0.00120	B	.;.	.;.	-0.208194	0.03048	0.471	0.46700175483676853	0.03761	0.00016	0.00195	N	AEFBI	0.016061	0.00339	N	-1.82336724726666	0.00490	0.02110744	-1.81317678004361	0.00718	0.0319862	2.83414617026636E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.05	-1.86	0.07340	0.363000	0.20037	.	.	-0.318000	0.05900	0.220000	0.24536	0.000000	0.08366	0.002000	0.04165	0.0:0.5951:0.4049:0.0	6.644	0.22116	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3571	8695.11	187	chr19	54866420	.	C	G	8695.11	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-2.678;DP=1033;ExcessHet=4.7409;FS=14.973;MLEAC=5;MLEAF=0.357;MQ=57.03;MQRankSum=-12.73;QD=9.02;ReadPosRankSum=1.25;SOR=0.344	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:204,112:316:99:0|1:54866416_T_C:4089,0,8209:54866416	2	0	5	0
chr19	54866533	54866533	A	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon8:c.A1119T:p.E373D,KIR3DL2:NM_006737:exon9:c.A1170T:p.E390D	.	420	1022	80	0	0	80	0.0376648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.000605757839165	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs372092512	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.432	0.13634	T	0.989	0.62824	D	0.977	0.73820	D	.	.	.	.	1	0.08975	N	1.455	0.36767	L	7.15	0.00448	T	-1.33	0.33197	N	0.032	0.07535	-0.8872	0.49172	T	0.003	0.00832	T	9	0.09381515	0.16631	T	6.06E-4	0.00274	T	0.049	0.13647	0.278	0.23164	0.309530620856	0.30565	0.04776419956839925	0.04719	0.00263683917289	0.00224	0.397166699171	0.24675	T	0.009012	0.08229	T	-0.310709	0.07687	T	-0.684088	0.06738	T	0.0624436335153859	0.07548	T	.	.	.	0.069478154	0.15226	0.052691333	0.08732	0.069478154	0.15226	0.052691333	0.08731	-5.991	0.46204	T	.	.	0.123	0.25914	B	.;.	.;.	1.370321	0.17801	13.38	0.9555976710174543	0.27236	0.00357	0.01833	N	AEFBI	0.023672	0.01352	N	-0.665085175571445	0.17022	0.8724157	-0.948421509682792	0.10960	0.5553993	3.55301781292242E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.4	-2.23	0.06539	0.255000	0.18102	.	.	0.660000	0.55035	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.3911:0.0:0.0:0.6089	3.962	0.08909	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2143	1975.73	295	chr19	54866533	.	A	T	1975.73	.	AC=3;AF=0.214;AN=14;BaseQRankSum=1.63;DP=1546;ExcessHet=1.1394;FS=39.764;MLEAC=3;MLEAF=0.214;MQ=57.48;MQRankSum=-14.52;QD=1.99;ReadPosRankSum=-0.107;SOR=2.966	GT:AD:DP:GQ:PL	0/1:380,97:477:99:1640,0,10490	4	0	3	0
chr19	55161145	55161145	C	T	exonic	DNAAF3	.	nonsynonymous SNV	DNAAF3:NM_001256714:exon8:c.G1036A:p.A346T,DNAAF3:NM_001256715:exon8:c.G832A:p.A278T,DNAAF3:NM_001256716:exon8:c.G670A:p.A224T,DNAAF3:NM_178837:exon8:c.G973A:p.A325T	Ciliary dyskinesia, primary, 2, Autosomal recessive	0	1518	4	0	0	4	0.00131579	.	.	.	334411	not_provided|DNAAF3-related_disorder|Primary_ciliary_dyskinesia	MedGen:C3661900|.|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.130	0.0263316271101	0.0011	0.000798722	0.0020	0.0007	0.0025	0	0	0.0031	0	0.0014	0.0010479	162	154602	rs200775946	0.0025	0.0025	0.0026	0.0024	0.0028	0.0024	0.0024	0.0027	0.0027	0.0003	0.0009	3.969e-05	0.0001	0.0040	0.0009	0.0028	0.0023	0.0016	0.0019	0.0019	0.0018	0.0020	0.0030	0.0017	0.0017	0.0027	0.0025	0.0004	0	0.0008	0	0	0.0043	0	0.0030	0.0024	0.0014	0.231	0.18246	T	0.339	0.21411	T	0.99	0.63424	D	0.719	0.54822	P	0.001235	0.39743	N	0.214637	0.942107	0.26760	N	1.865	0.49290	L	2.38	0.15843	T	-1.39	0.34397	N	0.369	0.45709	-1.0863	0.06173	T	0.070	0.28740	T	10	0.013263226	0.00282	T	0.026332	0.49245	D	0.130	0.35528	.	.	0.32082282376	0.31691	0.6881921752266086	0.68759	0.626266692496	0.56765	0.714590251446	0.69259	T	0.001088	0.00603	T	-0.449481	0.01137	T	-0.423352	0.30692	T	0.0228511231372686	0.01006	T	0.713829	0.32612	T	0.11944667	0.28124	0.29025954	0.55048	0.12916973	0.30176	0.40273905	0.64748	-5.169	0.56565	T	0.12517156110956149	0.12402	0.145	0.32251	B	.;.;.;.	.;.;.;.	3.988920	0.58697	24.0	0.99674070690924188	0.78782	0.73468	0.35937	D	AEFDGBCI	0.758477	0.69711	D	0.398226071342304	0.61326	4.332171	0.408302086286137	0.62081	4.417728	0.999999968482387	0.74766	0.59774	0.34471	0	0.59043	0.45803	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	4.24	4.24	0.49486	4.546000	0.60415	5.728000	0.49506	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	13.989	0.63868	988	0.01987	Dynein assembly factor 3, C-terminal domain;Dynein assembly factor 3, C-terminal domain;Dynein assembly factor 3, C-terminal domain;Dynein assembly factor 3, C-terminal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.004188	0.000000	0.006964	0.003049	0.000000	0.008929	0.000000	0.003876	0.07143	1112.46	48	chr19	55161145	.	C	T	1112.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.448;DP=391;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.49;ReadPosRankSum=0.501;SOR=0.696	GT:AD:DP:GQ:PL	0/1:60,46:106:99:1123,0,1460	6	0	1	0
chr19	57493645	57493645	G	A	exonic	ZNF419	.	nonsynonymous SNV	ZNF419:NM_001098495:exon3:c.G953A:p.R318H,ZNF419:NM_001098496:exon3:c.G950A:p.R317H,ZNF419:NM_001098492:exon4:c.G1052A:p.R351H,ZNF419:NM_001098493:exon4:c.G1049A:p.R350H,ZNF419:NM_001098494:exon4:c.G992A:p.R331H,ZNF419:NM_001291743:exon4:c.G989A:p.R330H,ZNF419:NM_001291744:exon4:c.G824A:p.R275H,ZNF419:NM_001098491:exon5:c.G1091A:p.R364H,ZNF419:NM_024691:exon5:c.G1088A:p.R363H	.	424	1089	7	2	0	11	0.00502513	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	.	0.007	0.00179712	0.0069	0.0018	0.0010	0.0001	0.0157	0.0103	0.0033	0.0010	0.0067011	1036	154602	rs190991901	0.0081	0.0081	0.0084	0.0079	0.0095	0.0080	0.0080	0.0093	0.0092	0.0015	0.0013	0.0005	7.557e-05	0.0137	0.0010	0.0095	0.0066	0.0012	0.0057	0.0057	0.0058	0.0056	0.0091	0.0054	0.0053	0.0085	0.0082	0.0013	0	0.0028	0.0009	0.0004	0.0134	0	0.0091	0.0028	0.0006	0.002	0.78490	D	0.024	0.79402	D	1.0	0.90584	D	0.946	0.70672	D	.	.	.	.	1	0.08975	N	1.905	0.50856	L	1.78	0.25678	T	-3.87	0.75139	D	0.309	0.42050	-1.0253	0.21985	T	0.096	0.36029	T	9	0.005657226	0.00126	T	.	.	.	0.026	0.05648	.	.	0.215109475489	0.21095	0.02654891569215712	0.02604	0.177019155059	0.19917	0.498757123947	0.38654	T	0.072844	0.34553	T	-0.517906	0.00452	T	-0.508893	0.21430	T	0.0443826195562264	0.04490	T	0.539146	0.22875	T	0.23445682	0.46267	0.27970666	0.53941	0.23445682	0.46267	0.27970666	0.53940	-10.514	0.76927	D	.	.	0.658	0.71961	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.857490	0.37744	20.6	0.99745433717500886	0.83852	0.06457	0.12464	N	AEFGBI	0.046647	0.07769	N	-0.31816867139106	0.28459	1.569819	-0.645093629492661	0.18340	0.9793189	0.0278239713266579	0.13796	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	1.8	-0.582	0.11122	-0.058000	0.11707	.	.	0.467000	0.21759	0.000000	0.06391	0.000000	0.08366	0.228000	0.22680	0.2787:0.0:0.5051:0.2162	2.945	0.05487	982	0.03397	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.;.;.;.;.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	ZNF544	Skin_Not_Sun_Exposed_Suprapubic	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.07143	1552.46	39	chr19	57493645	.	G	A	1552.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.47;DP=330;ExcessHet=0;FS=0.647;MLEAC=1;MLEAF=0.071;MQ=58.79;MQRankSum=-0.333;QD=11.59;ReadPosRankSum=1.06;SOR=0.799	GT:AD:DP:GQ:PL	0/1:73,61:134:99:1563,0,1784	6	0	1	0
chr20	2838448	2838448	C	T	exonic	PCED1A	.	nonsynonymous SNV	PCED1A:NM_001271168:exon6:c.G472A:p.D158N,PCED1A:NM_022760:exon6:c.G625A:p.D209N	.	429	1091	2	0	0	2	0.000915751	.	.	.	2677070	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.194	0.0285659039809	0.0002	.	8.242e-05	0	8.637e-05	0	0	0.0001	0	0.0001	6.47e-05	10	154602	rs375175326	4.994e-05	4.994e-05	5.036e-05	4.95e-05	0.0036	4.059e-05	3.734e-05	0.0024	0.0020	0	6.708e-05	0	0	0	0.0036	3.147e-05	0.0001	8.115e-05	1.97e-05	1.97e-05	0	4.034e-05	4.409e-05	5.24e-06	2.45e-06	1.17e-05	6.25e-06	0	0	0	0	0	0	0	4.409e-05	0	0	0.098	0.32141	T	0.007	0.69154	D	0.97	0.56973	D	0.818	0.58969	P	0.000000	0.84330	D	0.000000	0.999995	0.58761	D	2.425	0.70256	M	2.33	0.16492	T	-3.21	0.66780	D	0.716	0.73645	-1.0676	0.09948	T	0.093	0.35309	T	10	0.36392272	0.52950	T	0.028566	0.51224	D	0.194	0.47447	.	.	0.621786299428	0.61872	0.8416623808912245	0.84126	0.569153236508	0.53102	0.60020339489	0.52933	T	0.217107	0.57946	T	-0.352078	0.04597	T	-0.506844	0.21639	T	0.335616052150726	0.26449	T	0.361264	0.17009	T	0.5956392	0.72456	0.29347497	0.55376	0.5956392	0.72457	0.29347497	0.55375	-7.587	0.58220	D	.	.	0.381	0.63773	A	.;.;.;.	.;.;.;.	4.740484	0.76438	26.5	0.99864174133836692	0.94276	0.93977	0.59744	D	ALL	0.789981	0.71901	D	0.609553433519837	0.73779	6.022059	0.581043060855284	0.73581	5.993995	0.999999998449142	0.74766	0.741868	0.97996	0	0.774882	0.99574	0	0.693144	0.63139	0	0.714379	0.83352	0	.	.	4.14	4.14	0.47821	4.865000	0.62695	3.850000	0.40084	0.587000	0.30956	1.000000	0.71638	0.999000	0.35428	0.997000	0.79791	0.0:1.0:0.0:0.0	14.293	0.65842	470	0.78111	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.007576	0.07143	2062.49	34	chr20	2838448	.	C	T	2062.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.109;DP=322;ExcessHet=0;FS=0.618;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.22;ReadPosRankSum=-0.087;SOR=0.597	GT:AD:DP:GQ:PL	0/1:65,80:145:99:2073,0,1756	6	0	1	0
chr20	3044759	3044759	G	A	exonic	GNRH2	.	nonsynonymous SNV	GNRH2:NM_001310220:exon3:c.G235A:p.D79N,GNRH2:NM_001501:exon3:c.G235A:p.D79N,GNRH2:NM_178331:exon3:c.G214A:p.D72N,GNRH2:NM_178332:exon3:c.G211A:p.D71N	.	416	1105	1	0	0	1	0.000452284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.0163722285191	0.0005	0.000199681	0.0007	0	0.0006	0	0.0002	0.0008	0.0012	0.0016	0.0006209	96	154602	rs202126802	0.0006	0.0006	0.0006	0.0006	0.0013	0.0006	0.0006	0.0011	0.0010	5.981e-05	0.0010	0	2.521e-05	0.0003	0	0.0006	0.0011	0.0013	0.0006	0.0006	0.0006	0.0006	0.0017	0.0005	0.0005	0.0008	0.0006	7.216e-05	0	0.0011	0	0	0.0002	0	0.0008	0.0019	0.0017	0.139	0.25768	T	0.127	0.36233	T	0.122	0.34817	B	0.015	0.25678	B	0.463437	0.12363	N	0.660622	1	0.08975	N	0.695	0.17993	N	0.11	0.61208	T	-0.92	0.30555	N	0.126	0.16864	-1.0630	0.11021	T	0.077	0.30737	T	10	0.007763326	0.00176	T	0.016372	0.37594	T	0.015	0.02232	.	.	0.568643509186	0.56530	0.039110798245449024	0.03857	0.287694599158	0.31172	0.35451477766	0.18584	T	0.062664	0.31977	T	-0.582176	0.00187	T	-0.633659	0.10138	T	0.0139896461044978	0.00269	T	0.545645	0.18668	T	0.05016079	0.09019	0.031724498	0.01801	0.05016079	0.09018	0.031724498	0.01801	-4.571	0.32121	T	.	.	0.101	0.20663	B	.;.;.;.	.;.;.;.	2.719602	0.35566	19.93	0.99536018063877418	0.70212	0.09047	0.14879	N	AEFDBCI	0.038439	0.05440	N	-0.964434162145122	0.09371	0.44325	-1.04294563657306	0.08854	0.43743	0.999998289361931	0.74766	0.679555	0.55442	0	0.550933	0.16991	0	0.600882	0.32295	2	0.645665	0.59343	0	.	.	4.05	-0.856	0.10155	0.292000	0.18766	1.981000	0.30034	0.596000	0.33519	0.001000	0.13787	0.986000	0.30841	0.041000	0.14368	0.379:0.0:0.4195:0.2015	2.820	0.05133	830	0.39242	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	339.27	26	chr20	3044759	.	G	A	339.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.777;DP=177;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.98;ReadPosRankSum=-0.156;SOR=0.738	GT:AD:DP:GQ:PL	0/1:19,15:34:99:349,0,422	5	0	1	1
chr20	3147140	3147140	C	T	exonic	FASTKD5	.	nonsynonymous SNV	FASTKD5:NM_021826:exon2:c.G1931A:p.G644D	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00689433518507	.	.	1.653e-05	0	0	0.0001	0	0	0.0011	0	1.29e-05	2	154602	rs775270826	4.79e-06	4.788e-06	4.085e-06	5.502e-06	0.0003	1.99e-06	1.28e-06	6.092e-05	2.521e-05	0	0	3.826e-05	2.519e-05	0	0.0003	0	3.312e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	0.21634	T	0.133	0.34359	T	0.335	0.33330	B	0.08	0.28873	B	0.732012	0.06376	N	1.166430	0.999999	0.08975	N	1.59	0.40313	L	2.56	0.13673	T	-0.58	0.17417	N	0.28	0.31702	-0.9801	0.34979	T	0.025	0.10643	T	10	0.06204602	0.07873	T	0.006894	0.18233	T	0.026	0.05648	0.298	0.26362	0.283371740733	0.27958	0.19879321395370447	0.19796	0.112983469504	0.12758	0.276951730251	0.07071	T	0.011674	0.10383	T	-0.326194	0.06404	T	-0.537204	0.18572	T	0.0705643625953499	0.08729	T	0.453055	0.12870	T	0.027171291	0.01871	0.048263673	0.07130	0.027171291	0.01871	0.048263673	0.07129	-3.755	0.20134	T	.	.	0.106	0.19478	B	.	.	0.829365	0.12010	8.565	0.76846752808035657	0.11633	0.21200	0.21317	N	AEFDBCIJ	0.087895	0.17821	N	-0.53883606263718	0.20835	1.101342	-0.487206844504432	0.22504	1.222691	0.989384807984172	0.31809	0.736574	0.97449	0	0.697927	0.68747	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	4.56	2.59	0.30091	0.112000	0.15312	-0.557000	0.08497	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.601000	0.31412	0.0:0.4445:0.4675:0.088	8.842	0.34305	684	0.59539	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	1429.53	33	chr20	3147140	.	C	T	1429.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.47;DP=308;ExcessHet=0;FS=9.485;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.83;ReadPosRankSum=0.362;SOR=0.957	GT:AD:DP:GQ:PL	0/1:76,56:132:99:1440,0,1939	6	0	1	0
chr20	3165904	3165904	C	T	exonic	LZTS3	.	nonsynonymous SNV	LZTS3:NM_001282533:exon4:c.G916A:p.G306S,LZTS3:NM_001365618:exon4:c.G916A:p.G306S,LZTS3:NM_001367609:exon4:c.G1006A:p.G336S	.	414	1054	49	5	0	59	0.0272266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	.	0.0019	0.00519169	0.0067	0.0006	0.0018	0	0.0007	0.0033	0.0050	0.0314	0.0054333	840	154602	rs140477946	0.0045	0.0044	0.0036	0.0054	0.0297	0.0044	0.0043	0.0288	0.0284	0.0005	0.0014	0.0007	2.52e-05	0.0008	0.0127	0.0030	0.0054	0.0297	0.0025	0.0025	0.0021	0.0030	0.0261	0.0023	0.0022	0.0224	0.0210	0.0006	0	0.0014	0.0009	0	0.0004	0.0034	0.0029	0.0043	0.0261	0.52	0.07259	T	0.373	0.16425	T	0.689	0.44725	P	0.111	0.41090	B	0.004405	0.33773	N	0.288136	0.56611	0.31217	N	1.04	0.26193	L	0.89	0.45636	T	-0.13	0.08971	N	0.349	0.46368	-1.0386	0.17740	T	0.047	0.20156	T	10	0.004008025	0.00077	T	.	.	.	0.072	0.21020	.	.	0.171220215726	0.16700	0.5876594097079127	0.58695	0.678647379448	0.59893	0.486045897007	0.36891	T	0.006359	0.05794	T	-0.470693	0.00841	T	-0.427265	0.30247	T	0.00899952433187727	0.00113	T	0.858514	0.54939	D	0.0542011	0.10366	0.062347006	0.12184	0.0542011	0.10365	0.062347006	0.12183	-4.464	0.30414	T	.	.	0.072	0.10400	B	.;.;.;.	.;.;.;.	3.087624	0.41560	21.4	0.99841557339104448	0.92229	0.96822	0.71126	D	AEFDBI	0.413603	0.48321	N	-0.0781342619656111	0.38352	2.244978	0.0820102447336558	0.43643	2.661935	0.999937307179673	0.46732	0.695654	0.57023	0	0.550933	0.16991	0	0.723109	0.80598	0	0.505526	0.08623	0	.	.	5.44	5.44	0.79348	1.929000	0.39744	7.620000	0.62269	0.589000	0.31548	0.999000	0.42656	1.000000	0.68203	0.931000	0.46843	0.0:0.792:0.0:0.208	7.086	0.24438	670	0.60992	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011078	0.000000	0.005435	0.011696	0.000000	0.043103	0.003049	0.034091	0.2143	2857.71	34	chr20	3165904	.	C	T	2857.71	.	AC=3;AF=0.214;AN=14;BaseQRankSum=1.24;DP=311;ExcessHet=0;FS=0.641;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=18.2;ReadPosRankSum=1.7;SOR=0.776	GT:AD:DP:GQ:PL	0/1:50,57:107:99:1452,0,1196	5	1	1	0
chr20	10408774	10408774	T	C	exonic	MKKS	.	nonsynonymous SNV	MKKS:NM_018848:exon4:c.A1015G:p.I339V,MKKS:NM_170784:exon4:c.A1015G:p.I339V	Bardet-Biedl syndrome 6, Autosomal recessive;McKusick-Kaufman syndrome, Autosomal recessive	3	1496	21	2	0	25	0.00828638	.	.	YES	106463	McKusick-Kaufman_syndrome|not_provided|Bardet-Biedl_syndrome_6|Bardet-Biedl_syndrome|not_specified	MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700,Orphanet:2473|MedGen:C3661900|MONDO:MONDO:0011523,MedGen:C1858054,OMIM:605231,Orphanet:110|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.489	0.0291197997771	0.0030	0.00219649	0.0044	0.0002	0.0023	0	0.0063	0.0054	0.0044	0.0060	0.0042173	652	154602	rs137853909	0.0042	0.0042	0.0041	0.0043	0.0090	0.0041	0.0041	0.0071	0.0064	0.0005	0.0024	0.0023	2.521e-05	0.0081	0.0090	0.0043	0.0040	0.0056	0.0036	0.0036	0.0036	0.0036	0.0050	0.0034	0.0033	0.0046	0.0044	0.0004	0	0.0048	0.0029	0	0.0074	0.0102	0.0050	0.0057	0.0039	0.421	0.09806	T	0.821	0.03817	T	0.008	0.14655	B	0.042	0.24114	B	0.977114	0.07816	N	1.008790	0.999634	0.20820	N	0.575	0.15311	N	-1.3	0.79571	T	-0.52	0.16187	N	0.663	0.68950	-0.8682	0.50664	T	0.258	0.62823	T	10	0.009791404	0.00220	T	0.02912	0.51684	D	0.489	0.77656	.	.	0.455816718377	0.45207	0.266399546238906	0.26552	0.09311429178	0.10522	0.252166539431	0.03999	T	0.322819	0.69379	T	-0.28378	0.10270	T	-0.17528	0.56960	T	0.012114446485306	0.00193	T	0.593441	0.21910	T	0.02074044	0.00644	0.028641589	0.01119	0.020595802	0.00623	0.02819071	0.01033	-3.188	0.12334	T	0.09513167477338763	0.06441	0.064	0.01645	B	.;.	.;.	-0.691902	0.01340	0.074	0.63355510148389349	0.07202	0.08530	0.14447	N	AEFBI	0.132921	0.25241	N	-1.10111141240403	0.06624	0.3054509	-1.12856201002048	0.07158	0.3471643	0.999987309373211	0.51787	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.87	-4.87	0.02893	-1.552000	0.02280	-2.097000	0.04217	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.965000	0.52897	0.088:0.5145:0.0829:0.3146	7.534	0.26871	861	0.33516	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002525	0.000000	0.002717	0.000000	0.050000	0.000000	0.003067	0.011364	0.07143	1374.49	42	chr20	10408774	.	T	C	1374.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.416;DP=371;ExcessHet=0;FS=0.729;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.45;ReadPosRankSum=0.749;SOR=0.78	GT:AD:DP:GQ:PL	0/1:63,57:120:99:1385,0,1613	6	0	1	0
chr20	20196636	20196636	G	A	exonic	CFAP61	.	nonsynonymous SNV	CFAP61:NM_015585:exon16:c.G1657A:p.E553K	.	437	1051	34	0	0	34	0.0159176	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	.	0.0012	0.00279553	0.0024	0.0004	0.0012	0	0.0003	0.0014	0.0044	0.0105	0.0020892	323	154602	rs116476718	0.0015	0.0015	0.0012	0.0017	0.0107	0.0014	0.0014	0.0101	0.0099	5.974e-05	0.0009	0.0006	2.519e-05	0.0002	0.0094	0.0009	0.0019	0.0107	0.0010	0.0010	0.0010	0.0011	0.0091	0.0009	0.0009	0.0070	0.0062	7.226e-05	0.0175	0.0005	0.0009	0	0.0002	0	0.0012	0.0014	0.0091	0.22	0.18956	T	0.127	0.35082	T	0.861	0.47410	P	0.138	0.33406	B	0.002156	0.37138	N	0.256129	0.997005	0.81001	D	.	.	.	2.9	0.10101	T	-2.15	0.48687	N	0.626	0.64052	-1.0291	0.20746	T	0.026	0.11043	T	10	0.008395076	0.00190	T	.	.	.	0.137	0.36984	.	.	0.286848849266	0.28300	0.5781481004799673	0.57743	0.206687281271	0.23104	.	.	.	0.062483	0.31927	T	-0.448646	0.01150	T	-0.409263	0.32310	T	0.0240949992989467	0.01157	T	0.820918	0.48005	T	0.20001093	0.41961	0.20091796	0.44046	0.20001093	0.41961	0.20091796	0.44045	-8.572	0.64904	D	.	.	0.137	0.29941	B	.	.	4.101623	0.61165	24.3	0.99823540842108671	0.90590	0.86271	0.45519	D	AEFDBCI	0.668236	0.63608	D	0.100793035679368	0.46499	2.889373	0.14371737324171	0.46809	2.920971	0.999966064506883	0.48965	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.83	4.86	0.62624	4.617000	0.60907	7.501000	0.59489	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.913000	0.44837	0.0:0.1295:0.8705:0.0	16.716	0.85256	705	0.57330	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007553	0.000000	0.004076	0.002924	0.000000	0.017241	0.012195	0.011364	0.07143	1618.44	34	chr20	20196636	.	G	A	1618.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.995;DP=347;ExcessHet=0;FS=1.272;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.99;ReadPosRankSum=0.756;SOR=0.828	GT:AD:DP:GQ:PL	0/1:93,69:162:99:1629,0,2187	6	0	1	0
chr20	33676914	33676914	C	A	exonic	E2F1	.	nonsynonymous SNV	E2F1:NM_005225:exon7:c.G1132T:p.V378L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00853981412402	.	.	3.589e-05	0	0	0	0	7.468e-05	0	0	1.29e-05	2	154602	rs371155232	4.518e-05	4.72e-05	4.33e-05	4.71e-05	5.514e-05	3.621e-05	3.295e-05	4.358e-05	3.921e-05	3.087e-05	2.596e-05	0	0	0	0	5.514e-05	3.411e-05	0	1.971e-05	1.97e-05	1.284e-05	2.689e-05	4.409e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.409e-05	0	0	0.392	0.10766	T	0.407	0.14679	T	0.716	0.42206	P	0.203	0.37000	B	0.078399	0.21046	N	0.479162	0.95789	0.26244	N	1.385	0.34509	L	1.07	0.39586	T	-0.72	0.20358	N	0.066	0.03841	-1.0761	0.08124	T	0.065	0.26913	T	10	0.107269794	0.19916	T	0.00854	0.22581	T	0.027	0.05988	0.191	0.10171	0.457489361034	0.45375	0.1681913175665822	0.16739	0.590791334462	0.54529	0.583642184734	0.50598	T	0.296461	0.66909	T	-0.378499	0.03185	T	-0.587155	0.13912	T	0.0699987010639282	0.08652	T	0.822818	0.48291	T	0.06266963	0.13115	0.047505427	0.06858	0.06266963	0.13114	0.047505427	0.06858	-1.993	0.03154	T	.	.	0.170	0.37350	B	.	.	2.065475	0.26261	17.06	0.95654726829248604	0.27473	0.48217	0.28157	N	AEFDBHCI	0.163549	0.28984	N	-0.0911953108280463	0.37778	2.202831	-0.0151722229241747	0.39029	2.308025	0.999917056975706	0.45857	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.655142	0.61905	0	.	.	4.63	3.66	0.41111	0.831000	0.27129	4.036000	0.41382	-0.176000	0.10722	0.832000	0.30162	1.000000	0.68203	0.942000	0.48361	0.1619:0.6818:0.1563:0.0	9.487	0.38102	119	0.95208	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	481.63	40	chr20	33676914	.	C	A	481.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.423;DP=228;ExcessHet=0;FS=2.454;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.63;ReadPosRankSum=0.885;SOR=0.388	GT:AD:DP:GQ:PL	0/1:29,21:50:99:492,0,743	6	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	.	.	.	.	.	.	.	.	0.5	1118.32	66	chr20	34852409	.	G	C	1118.32	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.853;DP=740;ExcessHet=11.5949;FS=341.312;MLEAC=7;MLEAF=0.583;MQ=60;MQRankSum=0;QD=1.72;ReadPosRankSum=0.758;SOR=11.219	GT:AD:DP:GQ:PL	0/1:64,36:106:99:198,0,940	0	0	6	1
chr20	34999382	34999382	A	G	exonic	MYH7B	.	nonsynonymous SNV	MYH7B:NM_020884:exon36:c.A4643G:p.K1548R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.368	0.0145978744922	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1473192789	7.284e-07	1.368e-06	1.43e-06	0	9.363e-07	0	0	.	.	0	0	0	0	0	0	9.363e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.264	0.16358	T	0.53	0.10103	T	.	.	.	.	.	.	.	.	.	.	0.997668	0.44080	D	.	.	.	-1.06	0.76819	T	-1.55	0.37566	N	0.157	0.16308	-0.3716	0.72912	T	0.454	0.78714	T	9	0.49793845	0.61377	T	0.014598	0.34823	T	0.368	0.68757	.	.	0.699185091952	0.69658	0.10353673766341846	0.10283	0.130808477754	0.14758	0.480402588844	0.36112	T	.	.	.	-0.101743	0.36135	T	-0.383923	0.35262	T	0.908512771129608	0.56312	D	0.741226	0.36032	T	0.049559433	0.08819	0.2252454	0.47464	0.049559433	0.08819	0.2252454	0.47463	-4.529	0.31266	T	.	.	0.075	0.05623	B	.;.	.;.	2.191748	0.27947	17.63	0.99191281849846569	0.54994	0.90611	0.51931	D	AEFDGBCI	0.805808	0.73029	D	0.317772962822134	0.57060	3.872107	0.282439441419825	0.54513	3.616191	0.99979378265344	0.43153	0.580535	0.33130	0	0.379588	0.06130	0	0.576033	0.28219	0	0.714379	0.83352	0	.	.	4.19	3.09	0.34677	6.321000	0.72842	1.420000	0.26356	-0.059000	0.16651	1.000000	0.71638	0.999000	0.35428	0.873000	0.41610	0.9064:0.0:0.0936:0.0	8.750	0.33769	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	.	.	.	.	.	.	.	.	0.07143	485.53	22	chr20	34999382	.	A	G	485.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.29;DP=279;ExcessHet=0;FS=1.154;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.96;ReadPosRankSum=0.688;SOR=0.977	GT:AD:DP:GQ:PL	0/1:43,18:61:99:496,0,1175	6	0	1	0
chr20	36887477	36887477	A	G	exonic	TLDC2	.	nonsynonymous SNV	TLDC2:NM_001304783:exon4:c.A365G:p.N122S,TLDC2:NM_080628:exon5:c.A461G:p.N154S	.	429	1089	4	0	0	4	0.00183318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.440	0.0658442883367	0.0002	0.000599042	0.0005	0	8.637e-05	0	0	0.0001	0	0.0029	0.0001153	3	26028	rs368876056	0.0003	0.0003	0.0001	0.0004	0.0028	0.0002	0.0002	0.0025	0.0024	2.987e-05	2.236e-05	0.0001	0	0	0.0005	8.903e-05	0.0003	0.0028	0.0002	0.0002	0.0002	0.0001	0.0019	0.0001	9.715e-05	0.0010	0.0007	9.65e-05	0	0	0	0	0	0	0.0002	0	0.0019	0.001	0.91255	D	0.009	0.92824	D	0.999	0.77913	D	0.992	0.80445	D	0.000000	0.84330	D	0.000000	0.999991	0.58761	D	3.17	0.88688	M	0.66	0.52416	T	-4.96	0.82341	D	0.732	0.77413	-0.2417	0.76582	T	0.344	0.70956	T	10	0.053376436	0.05519	T	0.065844	0.69699	D	0.440	0.74377	.	.	0.651524792116	0.64862	0.3737992518637649	0.37293	0.296839923521	0.32070	0.556413352489	0.46761	T	0.267482	0.63951	T	-0.282321	0.10423	T	-0.182615	0.56281	T	0.939373910427094	0.61078	D	0.90471	0.66491	D	0.92071664	0.93318	0.9387939	0.97688	0.92071664	0.93318	0.9387939	0.97688	-8.454	0.64124	D	.	.	0.299	0.52929	B	.;.;.	.;.;.	4.645275	0.73998	26.1	0.99473943601299597	0.66472	0.05964	0.11923	N	ALL	0.791599	0.72014	D	0.812660581667904	0.86892	9.033364	0.754609871921353	0.86499	8.909457	1.0	0.98316	0.001892	0.00033	3	0.703908	0.78521	0	0.587068	0.30358	0	0.662026	0.63922	0	.	.	5.25	5.25	0.73169	6.960000	0.75832	11.062000	0.85454	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	1.0:0.0:0.0:0.0	13.378	0.60194	829	0.39537	TLDc domain|TLDc domain;TLDc domain|TLDc domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	682.44	35	chr20	36887477	.	A	G	682.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.41;DP=274;ExcessHet=0;FS=2.947;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.58;ReadPosRankSum=0.655;SOR=0.929	GT:AD:DP:GQ:PL	0/1:60,30:90:99:693,0,1572	6	0	1	0
chr20	37199095	37199095	A	G	exonic	RPN2	.	nonsynonymous SNV	RPN2:NM_001135771:exon3:c.A253G:p.S85G,RPN2:NM_001324299:exon4:c.A349G:p.S117G,RPN2:NM_001324301:exon4:c.A349G:p.S117G,RPN2:NM_001324302:exon4:c.A349G:p.S117G,RPN2:NM_001324303:exon4:c.A349G:p.S117G,RPN2:NM_001324304:exon4:c.A349G:p.S117G,RPN2:NM_001324305:exon4:c.A349G:p.S117G,RPN2:NM_002951:exon4:c.A349G:p.S117G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.214	0.0147372431492	0.0002	0.000199681	2.471e-05	0.0003	0	0	0	0	0	0	2.59e-05	4	154602	rs200634422	4.105e-06	4.104e-06	5.446e-06	2.751e-06	0.0001	1.48e-06	9.7e-07	3.983e-05	2.374e-05	0.0001	2.236e-05	0	0	0	0	8.995e-07	0	0	3.283e-05	3.281e-05	3.855e-05	2.685e-05	0.0001	1.26e-05	7.97e-06	4.727e-05	3.045e-05	0.0001	0	0	0	0	0	0	0	0	0	0.029	0.50676	D	0.069	0.92824	T	0.973	0.57599	D	0.764	0.56591	P	0.000000	0.84330	D	0.042136	0.999999	0.58761	D	2.24	0.63355	M	0.85	0.47130	T	-1.67	0.39887	N	0.778	0.77507	-0.7827	0.56149	T	0.198	0.55357	T	10	0.24457517	0.41691	T	0.014737	0.35052	T	0.214	0.50650	.	.	0.688954178089	0.68629	0.25361388437558535	0.25275	0.210700871631	0.23564	0.599850535393	0.52883	T	0.128061	0.45548	T	-0.170875	0.25100	T	-0.187035	0.55867	T	0.299674815407241	0.24990	T	0.968503	0.88585	D	0.25741267	0.48785	0.20427407	0.44543	0.25741267	0.48785	0.20427407	0.44542	-4.192	0.27141	T	.	.	0.108	0.33504	B	.;.;.	.;.;.	4.619929	0.73354	26.0	0.99861783006837657	0.94002	0.99030	0.90202	D	AEFDBIJ	0.956493	0.97506	D	0.638100922214665	0.75601	6.334817	0.66392883684176	0.79653	7.127827	0.99999997981228	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.31	5.31	0.75063	8.485000	0.90290	9.220000	0.79290	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	13.266	0.59566	352	0.85375	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	682.49	36	chr20	37199095	.	A	G	682.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.313;DP=263;ExcessHet=0;FS=0.855;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.53;ReadPosRankSum=-0.533;SOR=0.556	GT:AD:DP:GQ:PL	0/1:47,33:80:99:693,0,1202	6	0	1	0
chr20	38318473	38318473	C	A	exonic	BPI	.	nonsynonymous SNV	BPI:NM_001725:exon6:c.C661A:p.P221T	.	428	1091	3	0	0	3	0.001373	.	.	.	2319515	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.163	0.00945685211918	0.0006	0.000399361	0.0003	0.0015	8.639e-05	0	0	1.499e-05	0	0.0011	0.0002523	39	154602	rs111327200	0.0002	0.0002	0.0001	0.0002	0.0022	0.0001	0.0001	0.0018	0.0016	0.0022	2.236e-05	0	0	0	0.0010	1.26e-05	0.0003	0.0015	0.0006	0.0006	0.0007	0.0005	0.0019	0.0005	0.0005	0.0016	0.0015	0.0019	0	6.54e-05	0	0	0	0	2.94e-05	0.0005	0.0012	0.003	0.68238	D	0.015	0.61642	D	0.981	0.59675	D	0.608	0.51027	P	0.000132	0.49741	D	0.086033	1	0.81001	D	2.92	0.84325	M	3.45	0.05311	T	-6.05	0.89796	D	0.36	0.40164	-1.1371	0.01470	T	0.032	0.13854	T	10	0.036789805	0.01996	T	0.009457	0.24786	T	0.163	0.42028	.	.	0.33440975612	0.33058	0.4541979387350363	0.45337	0.244366285691	0.26938	0.371332228184	0.21023	T	0.089033	0.38285	T	-0.461187	0.00966	T	-0.454254	0.27227	T	0.185005739631549	0.19545	T	0.671133	0.28448	T	0.7349025	0.80001	0.3252687	0.58444	0.7349025	0.80003	0.3252687	0.58443	-9.194	0.68937	D	.	.	0.217	0.50591	B	.;.	.;.	3.017350	0.40373	21.2	0.99384814271569033	0.62068	0.82988	0.42146	D	AEFGBI	0.151783	0.27633	N	0.235221402968584	0.52913	3.462642	0.138161950798059	0.46517	2.896501	0.0553078968630643	0.15011	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	4.23	2.19	0.26890	1.721000	0.37654	2.641000	0.33754	0.580000	0.29708	1.000000	0.71638	0.998000	0.33993	0.842000	0.39752	0.1684:0.7376:0.0:0.094	7.205	0.25079	849	0.35778	Lipid-binding serum glycoprotein, N-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.07143	881.45	33	chr20	38318473	.	C	A	881.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.373;DP=254;ExcessHet=0;FS=0.902;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=1.09;SOR=0.836	GT:AD:DP:GQ:PL	0/1:37,35:72:99:892,0,977	6	0	1	0
chr20	45335899	45335899	C	T	exonic	SDC4	.	nonsynonymous SNV	SDC4:NM_002999:exon2:c.G82A:p.D28N	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	.	7.7e-05	0.00199681	0.0009	0.0006	0.0003	0	0	4.531e-05	0	0.0055	0.0007762	120	154602	rs191024231	0.0004	0.0004	0.0002	0.0006	0.0056	0.0004	0.0004	0.0052	0.0051	0.0009	0.0002	0	0	0	0.0009	3.597e-05	0.0003	0.0056	0.0006	0.0006	0.0005	0.0006	0.0056	0.0005	0.0004	0.0040	0.0034	0.0010	0	0.0009	0	0	0	0	2.941e-05	0	0.0056	0.385	0.11015	T	0.291	0.20944	T	0.901	0.49677	P	0.15	0.34161	B	0.012439	0.29177	N	0.387600	0.514313	0.81001	D	1.735	0.44892	L	1.33	0.35031	T	-1.33	0.33197	N	0.324	0.36464	-1.1000	0.04091	T	0.054	0.22770	T	10	0.007850707	0.00178	T	.	.	.	0.060	0.17295	.	.	0.614824676058	0.61171	0.4274334788114595	0.42660	0.167913004893	0.18931	0.529284477234	0.42933	T	0.254257	0.62488	T	-0.637103	0.00087	T	-0.685873	0.06631	T	0.0167336014510983	0.00430	T	0.80142	0.44736	T	0.052721787	0.09873	0.05587612	0.09882	0.052721787	0.09873	0.05587612	0.09882	-4.616	0.32372	T	.	.	0.094	0.14385	B	.	.	1.988723	0.25265	16.70	0.99654285163634015	0.77505	0.35348	0.25281	N	AEFBI	0.301929	0.41031	N	-0.151719862953103	0.35162	2.016158	-0.143344303740307	0.33665	1.928128	0.999898009505894	0.45129	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	4.79	2.83	0.32150	0.288000	0.18695	0.076000	0.14327	0.599000	0.40250	0.481000	0.26808	0.002000	0.18203	0.989000	0.64315	0.0:0.7995:0.0:0.2005	7.682	0.27687	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	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	375.83	36	chr20	45335899	.	C	T	375.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.141;DP=212;ExcessHet=0;FS=1.222;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.4;ReadPosRankSum=0.435;SOR=0.96	GT:AD:DP:GQ:PL	0/1:22,18:40:99:386,0,492	6	0	1	0
chr20	51516834	51516834	C	G	exonic	NFATC2	.	nonsynonymous SNV	NFATC2:NM_001136021:exon3:c.G1222C:p.G408R,NFATC2:NM_001258292:exon3:c.G1222C:p.G408R,NFATC2:NM_001258294:exon3:c.G625C:p.G209R,NFATC2:NM_001258295:exon3:c.G625C:p.G209R,NFATC2:NM_001258296:exon3:c.G625C:p.G209R,NFATC2:NM_001258297:exon3:c.G625C:p.G209R,NFATC2:NM_012340:exon3:c.G1282C:p.G428R,NFATC2:NM_173091:exon3:c.G1282C:p.G428R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.887	0.291469148357	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.619e-05	0.0007	0.0001	7.042e-05	0.0001	8.278e-05	7.817e-05	9.981e-05	9.381e-05	6.002e-05	0	0	5.044e-05	0	0	0.0001	0.0001	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.9	0.83903	M	-0.72	0.72994	T	-7.31	0.94511	D	0.952	0.97095	0.381	0.88810	D	0.611	0.86246	D	10	0.92848086	0.92191	D	0.291469	0.90578	D	0.887	0.96725	0.754	0.88402	0.90210233382	0.90113	0.8239515636362394	0.82352	1.30562062205	0.83120	0.866135060787	0.92011	D	0.671936	0.90273	D	0.39566	0.89663	D	0.330562	0.89533	D	0.997253000736237	0.91125	D	0.999394	0.99801	D	0.9024346	0.91602	0.87273586	0.93055	0.9024346	0.91603	0.87273586	0.93056	-12.284	0.86643	D	.	.	1.0	0.99952	P	.;.;.;.;.;.	.;.;.;.;.;.	5.540515	0.91959	32	0.99941663280488358	0.99797	0.98728	0.86094	D	AEFDBHI	0.897828	0.84044	D	0.916431156634983	0.92541	11.483	0.851822094425726	0.93121	11.83822	0.999999999999247	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.635551	0.53088	0	.	.	5.25	5.25	0.73169	7.900000	0.86025	7.651000	0.63703	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0:1.0:0.0:0.0	18.871	0.92287	957	0.09725	.;Rel homology domain (RHD), DNA-binding domain|Rel homology domain (RHD), DNA-binding domain;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	201.99	22	chr20	51516834	.	C	G	201.99	.	AC=2;AF=0.333;AN=6;BaseQRankSum=-0.304;DP=235;ExcessHet=0.3476;FS=136.316;MLEAC=3;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.94;ReadPosRankSum=1.34;SOR=6.868	GT:AD:DP:GQ:PL	0/1:45,16:61:13:13,0,644	1	0	2	4
chr20	51729952	51729952	C	A	exonic	ATP9A	.	nonsynonymous SNV	ATP9A:NM_006045:exon2:c.G95T:p.G32V	.	428	1050	41	3	0	47	0.021891	.	.	.	705551	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.205	.	0.0030	0.00599042	0.0064	0.0007	0.0018	0	0.0035	0.0045	0.0071	0.0297	0.005899	912	154602	rs142435125	0.0057	0.0057	0.0051	0.0063	0.0250	0.0056	0.0055	0.0241	0.0237	0.0004	0.0014	0.0163	2.613e-05	0.0025	0.0145	0.0046	0.0056	0.0250	0.0033	0.0033	0.0032	0.0034	0.0200	0.0031	0.0030	0.0167	0.0155	0.0007	0	0.0006	0.0147	0.0002	0.0030	0.0204	0.0040	0.0024	0.0200	0.17	0.22833	T	0.316	0.19362	T	0.57	0.38545	P	0.147	0.34014	B	0.000000	0.84330	D	0.000000	0.999996	0.81001	D	1.5	0.37844	L	0.59	0.53943	T	-2.17	0.49018	N	0.678	0.71055	-0.8359	0.52917	T	0.171	0.51309	T	10	0.0062817633	0.00142	T	.	.	.	0.205	0.49236	.	.	0.228066490088	0.22430	0.734965493781235	0.73441	1.03928217302	0.75733	0.783974707127	0.79528	T	0.122417	0.44607	T	-0.247686	0.14383	T	-0.109636	0.62642	T	0.0238870667430265	0.01130	T	0.940506	0.77585	D	0.29506063	0.52458	0.25470945	0.51141	0.29506063	0.52458	0.25470945	0.51140	-9.218	0.69089	D	.	.	0.152	0.33687	B	.;.	.;.	3.753699	0.53817	23.4	0.99419922879306388	0.63694	0.97975	0.78564	D	AEFDHI	0.864955	0.78390	D	0.27288617964197	0.54777	3.642689	0.404589802775665	0.61851	4.391058	0.9999999999934	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.27	5.27	0.73797	7.379000	0.78975	4.672000	0.44283	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.953000	0.50222	0.0:1.0:0.0:0.0	19.236	0.93848	958	0.09170	.;.	.	.	.	.	rs142435125	Likely benign	0	0	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	0.009073	0.000000	0.005435	0.017544	0.000000	0.000000	0.009202	0.011364	0.07143	675.44	42	chr20	51729952	.	C	A	675.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.968;DP=260;ExcessHet=0;FS=2.26;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.93;ReadPosRankSum=-0.069;SOR=1.091	GT:AD:DP:GQ:PL	0/1:41,27:68:99:686,0,1046	6	0	1	0
chr20	54028628	54028628	C	A	exonic	BCAS1	.	nonsynonymous SNV	BCAS1:NM_001316361:exon4:c.G487T:p.V163F,BCAS1:NM_001323347:exon4:c.G487T:p.V163F,BCAS1:NM_001366295:exon4:c.G487T:p.V163F,BCAS1:NM_001366296:exon4:c.G487T:p.V163F,BCAS1:NM_001366297:exon4:c.G487T:p.V163F,BCAS1:NM_001366298:exon4:c.G487T:p.V163F,BCAS1:NM_003657:exon4:c.G487T:p.V163F	.	429	1034	56	3	0	62	0.029108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	.	0.0072	0.0121805	0.0122	0.0023	0.0054	0.0032	0.0023	0.0092	0.0143	0.0435	0.0110542	1709	154602	rs61754122	0.0082	0.0082	0.0068	0.0095	0.0435	0.0080	0.0080	0.0423	0.0419	0.0025	0.0055	0.0216	0.0013	0.0018	0.0244	0.0057	0.0100	0.0435	0.0068	0.0068	0.0064	0.0073	0.0425	0.0065	0.0063	0.0378	0.0359	0.0024	0	0.0058	0.0187	0.0021	0.0023	0.0238	0.0077	0.0085	0.0425	0.012	0.58626	D	0.046	0.49120	D	0.868	0.47740	P	0.32	0.41729	B	0.277183	0.15013	N	0.648898	1	0.08975	N	0.69	0.16971	N	3.3	0.06368	T	-1.09	0.28290	N	0.055	0.03175	-0.9612	0.38955	T	0.007	0.02598	T	10	0.0027716756	0.00043	T	.	.	.	0.067	0.19503	.	.	.	.	0.03992220136706161	0.03938	0.289761338798	0.31384	0.328943371773	0.14774	T	0.021546	0.16761	T	-0.480598	0.00733	T	-0.432422	0.29661	T	0.0165141970174594	0.00415	T	0.69603	0.30552	T	0.05788448	0.11576	0.05855628	0.10839	0.05788448	0.11576	0.05855628	0.10839	-6.569	0.50816	T	.	.	0.094	0.19235	B	.;.;.	.;.;.	1.223381	0.16175	12.37	0.99409088839058579	0.63169	0.09415	0.15175	N	AEFDBCI	0.158754	0.28445	N	-0.719141057650663	0.15484	0.7807461	-0.817846634436971	0.14063	0.7328977	0.999540203599691	0.40300	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.87	0.45	0.15835	0.146000	0.16000	0.467000	0.18675	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.2632:0.4301:0.0:0.3067	2.756	0.04969	985	0.02828	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.021148	0.020202	0.019022	0.017544	0.000000	0.008621	0.030488	0.022727	0.07143	1182.46	38	chr20	54028628	.	C	A	1182.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.137;DP=289;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=0.365;SOR=0.693	GT:AD:DP:GQ:PL	0/1:58,48:106:99:1193,0,1535	6	0	1	0
chr20	56524998	56524998	C	T	exonic	FAM209A	.	nonsynonymous SNV	FAM209A:NM_001012971:exon1:c.C190T:p.L64F	.	431	1064	27	0	0	27	0.012529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.00221928690667	.	.	0.0001	0.0002	0.0003	0	0	0.0001	0	0.0001	3.84e-05	1	26028	rs2019515	1.028e-05	0.0004	6.814e-06	1.378e-05	0.0001	6.17e-06	4.89e-06	5.428e-05	4.065e-05	0	0	0	2.519e-05	0	0	2.701e-06	3.317e-05	0.0001	1.981e-05	0.0003	0	4.056e-05	0.0002	5.27e-06	2.46e-06	4.91e-06	1.84e-06	0	0	0	0	0	0	0	2.959e-05	0	0.0002	0.612	0.05436	T	0.773	0.04431	T	0.002	0.09854	B	0.004	0.10090	B	0.300512	0.03952	N	1.580940	1	0.08975	N	0.895	0.22405	L	3.04	0.08810	T	0.08	0.06026	N	0.062	0.03392	-0.9840	0.34069	T	0.011	0.03949	T	10	0.02841866	0.00974	T	0.002219	0.04206	T	0.005	0.00259	.	.	0.0297737177859	0.01360	0.03433896955149916	0.03381	0.844967140893	0.68244	.	.	.	0.003816	0.03222	T	-0.372816	0.03454	T	-0.773301	0.02661	T	0.0671559348702431	0.08246	T	0.462454	0.13421	T	0.038233127	0.05054	0.049408853	0.07543	0.038233127	0.05053	0.049408853	0.07542	-4.498	0.30863	T	.	.	0.104	0.19032	B	.	.	-0.469087	0.01968	0.170	0.96523846478246433	0.30126	0.00138	0.00846	N	AEFDGBI	0.019902	0.00734	N	-1.56715141177652	0.01437	0.06267459	-1.58472377924509	0.01749	0.07952678	0.0122422385556242	0.12299	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.51	-3.08	0.05022	-2.308000	0.01212	-2.687000	0.03467	-0.189000	0.09497	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3755:0.2307:0.1287:0.2652	0.472	0.00497	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	0.008560	0.040404	0.001359	0.002924	0.050000	0.000000	0.012195	0.007576	0.07143	409.44	34	chr20	56524998	.	C	T	409.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.34;DP=475;ExcessHet=0;FS=15.495;MLEAC=1;MLEAF=0.071;MQ=58.48;MQRankSum=-13.56;QD=1.48;ReadPosRankSum=-3.919;SOR=1.969	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:248,29:277:99:0|1:56524998_C_T:420,0,10275:56524998	6	0	1	0
chr20	56525005	56525005	T	C	exonic	FAM209A	.	nonsynonymous SNV	FAM209A:NM_001012971:exon1:c.T197C:p.V66A	.	431	1066	25	0	0	25	0.0115902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.00413359579284	.	.	0.0001	0.0002	0.0002	0	0	0.0001	0	0.0001	3.84e-05	1	26028	rs707554	1.164e-05	0.0002	8.172e-06	1.514e-05	0.0001	7.09e-06	5.8e-06	5.414e-05	4.055e-05	0	0	0	5.038e-05	1.874e-05	0	2.699e-06	3.314e-05	0.0001	2.637e-05	0.0003	2.578e-05	2.699e-05	0.0002	8.16e-06	5.15e-06	7.99e-06	2.99e-06	4.82e-05	0	0	0	0	0	0	1.476e-05	0	0.0002	0.222	0.18823	T	0.16	0.31427	T	0.0	0.02946	B	0.003	0.08700	B	0.971007	0.07778	N	1.017990	1	0.08975	N	1.295	0.32453	L	2.87	0.10386	T	-2.37	0.52289	N	0.136	0.13341	-0.9305	0.44066	T	0.022	0.09330	T	10	0.04262361	0.03030	T	0.004134	0.09900	T	0.095	0.27398	.	.	0.0138822411134	0.00435	0.11297937074249534	0.11225	0.256975690804	0.28266	.	.	.	0.01954	0.15549	T	-0.301829	0.08488	T	-0.671333	0.07523	T	0.0392241445291004	0.03550	T	0.368563	0.08641	T	0.049625613	0.08839	0.06962658	0.14694	0.049625613	0.08839	0.06962658	0.14694	-3.495	0.16361	T	.	.	0.069	0.03197	B	.	.	0.623466	0.09921	6.678	0.47635595541083875	0.03910	0.04211	0.09723	N	AEFDGBI	0.048429	0.08264	N	-1.39070259787422	0.02724	0.1207108	-1.34673273108721	0.03844	0.1801648	0.00889146502148676	0.11760	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.51	3.17	0.35510	0.454000	0.21539	1.500000	0.26949	-0.840000	0.02799	0.000000	0.06391	0.008000	0.19753	0.000000	0.00833	0.0:0.1709:0.0:0.8291	9.126	0.35973	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006042	0.020202	0.001359	0.000000	0.050000	0.000000	0.012195	0.007576	0.07143	217.44	34	chr20	56525005	.	T	C	217.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.99;DP=457;ExcessHet=0;FS=21.474;MLEAC=1;MLEAF=0.071;MQ=58.22;MQRankSum=-13.79;QD=0.81;ReadPosRankSum=-3.105;SOR=2.684	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:245,23:268:99:0|1:56524998_C_T:228,0,10139:56524998	6	0	1	0
chr20	59970142	59970142	C	A	exonic	CDH26	.	nonsynonymous SNV	CDH26:NM_177980:exon3:c.C187A:p.L63M	.	423	1087	12	0	0	12	0.00548948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.170	0.0132419513268	0.0008	0.00179712	0.0010	0.0012	0.0006	0	0	0.0012	0.0033	0.0008	0.001022	158	154602	rs144755899	0.0009	0.0009	0.0008	0.0009	0.0279	0.0008	0.0008	0.0244	0.0231	0.0015	0.0013	7.653e-05	2.52e-05	5.616e-05	0.0279	0.0007	0.0015	0.0008	0.0010	0.0010	0.0010	0.0009	0.0012	0.0008	0.0008	0.0009	0.0008	0.0009	0	0.0012	0	0	0	0.0238	0.0011	0.0024	0.0010	0.004	0.65419	D	0.0	0.92824	D	.	.	.	.	.	.	0.012372	0.29198	N	0.268581	0.93439	0.37086	D	2.18	0.61292	M	0.22	0.59851	T	-1.18	0.30140	N	0.427	0.46649	-0.7704	0.56836	T	0.178	0.52287	T	10	0.010869712	0.00240	T	0.013242	0.32488	T	0.170	0.43303	.	.	0.76025967099	0.75808	0.5230284471288537	0.52226	0.600408321793	0.55127	0.490655899048	0.37530	T	0.003458	0.02869	T	-0.356608	0.04326	T	-0.325552	0.41964	T	0.038357544089897	0.03395	T	0.307569	0.05925	T	0.1279862	0.29934	0.11669233	0.28171	0.1279862	0.29934	0.11669233	0.28170	-8.26	0.62828	D	.	.	0.190	0.40858	B	.	.	3.344921	0.46112	22.2	0.9967518381810796	0.78846	0.88445	0.48376	D	AEFGI	0.146199	0.26959	N	0.209790136885908	0.51672	3.346744	0.189724876183236	0.49282	3.133364	0.856247417677525	0.25139	0.553676	0.25195	0	0.573888	0.26702	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	4.43	3.49	0.39065	0.722000	0.25595	0.124000	0.14956	0.596000	0.33519	0.982000	0.35529	0.006000	0.19429	0.991000	0.66497	0.0:0.8113:0.0:0.1887	8.221	0.30703	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	0.018145	0.010101	0.020436	0.067251	0.000000	0.000000	0.000000	0.000000	0.07143	1536.44	34	chr20	59970142	.	C	A	1536.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.032;DP=320;ExcessHet=0;FS=0.624;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.13;ReadPosRankSum=0.928;SOR=0.758	GT:AD:DP:GQ:PL	0/1:73,65:138:99:1547,0,1736	6	0	1	0
chr20	62310789	62310789	G	A	exonic	LAMA5	.	nonsynonymous SNV	LAMA5:NM_005560:exon75:c.C10322T:p.T3441M	.	394	1118	9	1	0	11	0.00489542	.	.	.	590918	Short_stature|LAMA5-related_disorder|not_provided	Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.362	0.162895648549	.	0.000998403	0.0008	0	0.0004	0	0	0.0007	0.0026	0.0026	0.0005239	81	154602	rs200093098	0.0004	0.0004	0.0003	0.0004	0.0058	0.0003	0.0003	0.0042	0.0037	0.0001	0.0006	0	5.219e-05	0	0.0058	0.0003	0.0005	0.0016	0.0004	0.0004	0.0004	0.0004	0.0019	0.0003	0.0003	0.0010	0.0007	2.409e-05	0	0.0007	0	0	0	0.0068	0.0005	0.0014	0.0019	0.004	0.65419	D	0.065	0.44702	T	0.621	0.39935	P	0.125	0.32635	B	0.585258	0.11104	N	0.815382	1	0.08975	N	-0.345	0.03330	N	-1.2	0.78537	T	-0.3	0.11913	N	0.298	0.33687	-0.8592	0.51320	T	0.188	0.53856	T	10	0.018012106	0.00388	T	0.162896	0.84236	D	0.362	0.68230	.	.	0.63274594377	0.62973	0.4431107411782822	0.44229	.	.	0.329213798046	0.14816	T	0.09394	0.39314	T	-0.364043	0.03907	T	-0.314714	0.43150	T	0.0339722888738369	0.02633	T	0.565643	0.19997	T	0.034376018	0.03846	0.046085086	0.06345	0.034376018	0.03846	0.046085086	0.06345	-1.9	0.02825	T	.	.	0.101	0.17445	B	.	.	-0.278810	0.02711	0.356	0.99218186797894758	0.55808	0.01971	0.05969	N	AEFDBCIJ	0.048997	0.08421	N	-1.20567966478731	0.04916	0.2229203	-1.37576801933907	0.03512	0.1639716	0.999998790565678	0.74766	0.67177	0.52595	0	0.588066	0.40923	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	4.75	-7.61	0.01158	-0.580000	0.05920	-0.551000	0.08528	-0.129000	0.13216	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.7693:0.1085:0.1221:0.0	11.534	0.49877	779	0.47767	Laminin G domain|Laminin G domain|Laminin G domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.010142	0.005155	0.012329	0.020958	0.000000	0.000000	0.003086	0.007634	0.07143	902.63	35	chr20	62310789	.	G	A	902.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.06;DP=275;ExcessHet=0;FS=9.006;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.75;ReadPosRankSum=0.018;SOR=0.978	GT:AD:DP:GQ:PL	0/1:44,40:84:99:913,0,964	6	0	1	0
chr20	62310946	62310946	G	T	exonic	LAMA5	.	nonsynonymous SNV	LAMA5:NM_005560:exon74:c.C10237A:p.R3413S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.278	0.0932665650699	.	.	.	.	.	.	.	.	.	.	.	.	.	rs536483551	1.371e-06	2.052e-06	0	2.756e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	1.659e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.26300	T	0.249	0.23776	T	0.134	0.27266	B	0.028	0.21332	B	0.030739	0.25267	N	0.426677	1	0.08975	N	1.775	0.45938	L	-1.15	0.77964	T	-1.85	0.43334	N	0.361	0.40264	-0.6556	0.62469	T	0.315	0.68460	T	10	0.24062446	0.41225	T	0.093267	0.76042	D	0.278	0.59497	0.483	0.56462	0.721563950377	0.71911	0.36756140015395466	0.36670	.	.	0.24202914536	0.02976	T	0.132463	0.46257	T	0.00590523	0.52466	T	-0.229294	0.51840	T	0.104604232592324	0.12855	T	0.547645	0.18800	T	0.19031718	0.40612	0.1332156	0.31948	0.19031718	0.40611	0.1332156	0.31948	-3.975	0.23428	T	.	.	0.276	0.50943	B	.	.	1.849608	0.23498	16.04	0.9760629695634363	0.34881	0.08292	0.14240	N	AEFDBCI	0.099745	0.20071	N	-0.569151546316348	0.19887	1.044325	-0.584800780602555	0.19888	1.069133	0.999927798452538	0.46280	0.634777	0.41761	0	0.588066	0.40923	0	0.643519	0.47002	0	0.636168	0.56350	0	.	.	4.69	3.67	0.41236	1.924000	0.39695	6.368000	0.55519	0.616000	0.49467	0.784000	0.29521	1.000000	0.68203	0.111000	0.18785	0.0:0.0:0.8296:0.1704	12.281	0.54081	779	0.47767	Laminin G domain|Laminin G domain|Laminin G domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	832.63	35	chr20	62310946	.	G	T	832.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.02;DP=252;ExcessHet=0;FS=3.514;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.43;ReadPosRankSum=-0.451;SOR=1.037	GT:AD:DP:GQ:PL	0/1:30,32:62:99:843,0,754	6	0	1	0
chr20	62326700	62326700	G	A	exonic	LAMA5	.	nonsynonymous SNV	LAMA5:NM_005560:exon40:c.C5275T:p.R1759C	.	417	1104	1	0	0	1	0.000452694	.	.	.	1910562	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.175	0.0480241848217	7.7e-05	.	5.038e-05	0	0	0	0	9.206e-05	0	0	3.88e-05	6	154602	rs369951035	5.341e-05	5.404e-05	5.586e-05	5.093e-05	6.297e-05	4.348e-05	4.021e-05	5.075e-05	4.654e-05	0	4.474e-05	0	5.038e-05	0	0	6.297e-05	4.972e-05	1.159e-05	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	0.046	0.40573	D	0.053	0.47336	T	0.99	0.63424	D	0.659	0.52771	P	0.379382	0.04411	N	1.368230	0.999997	0.08975	N	2.69	0.78713	M	1.2	0.37405	T	-3.45	0.67589	D	0.312	0.35194	-0.9523	0.40573	T	0.175	0.51848	T	10	0.2708233	0.44617	T	0.048024	0.63188	D	0.175	0.44197	.	.	0.530891212371	0.52736	0.3409756056315048	0.34010	.	.	0.210453659296	0.00831	T	0.107012	0.41886	T	-0.278064	0.10873	T	-0.432646	0.29636	T	0.334159167389386	0.26391	T	0.813419	0.46649	T	0.22348557	0.44970	0.15457304	0.36272	0.22348557	0.44970	0.15457304	0.36271	-9.2	0.68974	D	.	.	0.161	0.35498	B	.	.	4.051298	0.60047	24.2	0.99889006369229416	0.96359	0.73712	0.36055	D	AEFGBHCI	0.341210	0.43777	N	0.176746732921328	0.50083	3.201889	0.0674141164238564	0.42922	2.604778	0.98779162983173	0.31344	0.706548	0.73137	0	0.547309	0.14657	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.12	4.11	0.47350	1.319000	0.33260	9.453000	0.80852	0.676000	0.76740	0.733000	0.28953	1.000000	0.68203	0.028000	0.12845	0.0:0.1884:0.691:0.1206	11.580	0.50142	779	0.47767	Laminin IV|Laminin IV|Laminin IV	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.07143	470.63	13	chr20	62326700	.	G	A	470.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.023;DP=163;ExcessHet=0;FS=6.945;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.23;ReadPosRankSum=1.67;SOR=0.108	GT:AD:DP:GQ:PL	0/1:11,18:29:99:481,0,253	6	0	1	0
chr20	62754803	62754803	C	T	exonic	NTSR1	.	nonsynonymous SNV	NTSR1:NM_002531:exon2:c.C833T:p.T278M	.	416	1105	1	0	0	1	0.000452284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	0.168359319482	.	0.000399361	0.0001	0	0.0003	0	0	0	0	0.0006	0.00011	17	154602	rs201275906	5.211e-05	5.336e-05	4.913e-05	5.511e-05	0.0004	4.168e-05	3.897e-05	0.0003	0.0002	2.987e-05	0.0002	0	0.0004	1.98e-05	0	1.709e-05	9.945e-05	0.0003	4.606e-05	4.596e-05	3.861e-05	5.385e-05	0.0006	2.112e-05	1.528e-05	0.0002	9.04e-05	2.413e-05	0	0	0	0	9.436e-05	0	2.944e-05	0	0.0006	0.171	0.22746	T	0.278	0.21812	T	0.216	0.30161	B	0.065	0.27321	B	0.899858	0.08628	N	0.943538	0.971206	0.25665	N	1.24	0.30952	L	-0.41	0.69413	T	-0.56	0.17003	N	0.165	0.17416	-0.8793	0.49817	T	0.198	0.55329	T	10	0.040504813	0.02626	T	0.168359	0.84648	D	0.096	0.27654	0.388	0.40951	0.616947796064	0.61385	0.4517092649288962	0.45088	0.376432132591	0.39083	0.338868618011	0.16268	T	0.159385	0.50281	T	-0.347591	0.04880	T	-0.409106	0.32328	T	0.0290210471628259	0.01841	T	0.557944	0.19432	T	0.09299536	0.21832	0.111982726	0.27016	0.09299536	0.21831	0.111982726	0.27015	-4.75	0.34003	T	.	.	0.078	0.06896	B	.	.	2.207283	0.28159	17.70	0.93770989286214823	0.23723	0.57500	0.30393	D	AEFDGBCI	0.106840	0.21305	N	-0.499896269127673	0.22083	1.176728	-0.490546406641719	0.22413	1.217229	0.272391134964245	0.18905	0.623552	0.39893	0	0.59043	0.45803	0	0.602189	0.34648	0	0.579976	0.35079	0	.	.	3.79	2.8	0.31881	1.262000	0.32594	0.231000	0.16190	0.516000	0.23499	0.747000	0.29101	0.000000	0.08366	0.109000	0.18697	0.0:0.9075:0.0:0.0925	12.009	0.52567	856	0.34373	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	.	.	.	.	.	.	.	.	0.07143	1647.44	33	chr20	62754803	.	C	T	1647.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.594;DP=326;ExcessHet=0;FS=2.07;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.21;ReadPosRankSum=0.599;SOR=0.52	GT:AD:DP:GQ:PL	0/1:72,75:147:99:1658,0,1560	6	0	1	0
chr20	62813351	62813351	C	T	exonic	OGFR	.	nonsynonymous SNV	OGFR:NM_007346:exon7:c.C1736T:p.S579L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00239468101348	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1206656808	1.419e-06	2.059e-06	1.407e-06	1.43e-06	1.237e-05	2.4e-07	9e-08	.	.	0	0	0	0	0	0	9.163e-07	0	1.237e-05	8.08e-06	6.743e-06	0	1.675e-05	1.664e-05	0	0	.	.	0	0	0	0	0	0	0	1.664e-05	0	0	0.068	0.45393	T	0.241	0.26969	T	0.001	0.07471	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	1.12	0.38718	T	-0.48	0.15379	N	0.064	0.06059	-0.9977	0.30563	T	0.042	0.18076	T	9	0.043762386	0.03260	T	0.002395	0.04673	T	0.021	0.04004	.	.	0.128392430309	0.12331	0.3509422816560484	0.35008	0.327791181624	0.34904	0.34631177783	0.17377	T	0.006654	0.06077	T	-0.312476	0.07532	T	-0.686627	0.06586	T	0.0560175311708966	0.06526	T	0.556144	0.20971	T	0.030358495	0.02685	0.042032376	0.04915	0.030358495	0.02684	0.042032376	0.04914	-10.731	0.78162	D	.	.	0.109	0.53541	B	.;.	.;.	0.238852	0.06193	2.643	0.72004322593657011	0.09823	0.01425	0.04802	N	AEFBCI	0.058993	0.11109	N	-1.96251594034123	0.00254	0.01090279	-2.03356596869223	0.00260	0.01145937	0.999493871796732	0.40007	0.67177	0.52595	0	0.702456	0.74545	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	1.6	-3.21	0.04823	-1.129000	0.03356	-11.611000	0.00590	-2.201000	0.00355	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3431:0.5076:0.1494	6.046	0.18988	894	0.26265	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	207.23	8	chr20	62813351	.	C	T	207.23	.	AC=1;AF=0.1;AN=10;BaseQRankSum=1.04;DP=70;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=45.39;MQRankSum=0.34;QD=13.82;ReadPosRankSum=1.93;SOR=0.446	GT:AD:DP:GQ:PL	0/1:7,8:15:83:216,0,83	4	0	1	2
chr20	62881068	62881068	C	T	exonic	DIDO1	.	nonsynonymous SNV	DIDO1:NM_001193369:exon16:c.G4888A:p.E1630K,DIDO1:NM_033081:exon16:c.G4888A:p.E1630K	.	418	1084	19	1	0	21	0.00959342	.	.	.	742526	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.033	.	0.0002	0.00439297	0.0033	0.0003	0.0003	0.0286	0	0.0003	0.0015	0.0059	0.0026261	406	154602	rs201746991	0.0012	0.0012	0.0010	0.0013	0.0214	0.0011	0.0011	0.0202	0.0197	0.0001	0.0005	0.0014	0.0214	2.028e-05	0.0019	0.0001	0.0040	0.0048	0.0014	0.0014	0.0013	0.0015	0.0264	0.0012	0.0012	0.0228	0.0215	0.0002	0	0.0012	0.0020	0.0264	0	0	0.0002	0.0024	0.0043	0.345	0.12511	T	0.496	0.11335	T	0.006	0.13644	B	0.001	0.04355	B	0.566787	0.05456	N	1.370700	1	0.08975	N	0.345	0.11182	N	3.15	0.07820	T	-0.69	0.19720	N	0.048	0.01999	-0.9625	0.38704	T	0.005	0.01506	T	10	0.0031928718	0.00054	T	.	.	.	0.033	0.08068	.	.	0.262679179196	0.25893	0.25062993531497235	0.24976	0.413178759555	0.42034	0.393840461969	0.24209	T	0.07762	0.35697	T	-0.742497	0.00020	T	-0.812862	0.01602	T	0.00300392465688742	0.00031	T	0.517348	0.16736	T	0.04582877	0.07568	0.03772025	0.03484	0.04582877	0.07567	0.03772025	0.03484	-3.976	0.23443	T	.	.	0.069	0.03128	B	.;.	.;.	0.279582	0.06563	3.054	0.64074853510350438	0.07394	0.11336	0.16566	N	AEFDGBCI	0.057267	0.10653	N	-1.3356885435977	0.03276	0.1460473	-1.35017390719816	0.03804	0.1781757	0.890231463533723	0.25831	0.700653	0.57754	0	0.708844	0.79440	0	0.717052	0.78885	0	0.635551	0.53088	0	.	.	5.06	-2.67	0.05703	-1.057000	0.03596	0.469000	0.18693	0.599000	0.40250	0.000000	0.06391	0.001000	0.17328	0.012000	0.09680	0.0969:0.2824:0.2501:0.3707	2.289	0.03881	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	1	0	0.002018	0.000000	0.001362	0.000000	0.000000	0.000000	0.009202	0.000000	0.07143	563.63	28	chr20	62881068	.	C	T	563.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.87;DP=208;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.75;ReadPosRankSum=2.14;SOR=0.622	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:21,20:41:99:0|1:62881068_C_T:574,0,790:62881068	6	0	1	0
chr21	6460207	6460207	A	T	exonic	CBS;CBSL	.	nonsynonymous SNV	CBS:NM_000071:exon4:c.T296A:p.F99Y,CBS:NM_001178008:exon4:c.T296A:p.F99Y,CBS:NM_001178009:exon4:c.T296A:p.F99Y,CBSL:NM_001321073:exon4:c.T296A:p.F99Y,CBSL:NM_001354008:exon4:c.T296A:p.F99Y,CBSL:NM_001354009:exon4:c.T296A:p.F99Y,CBSL:NM_001354010:exon4:c.T296A:p.F99Y,CBSL:NM_001354012:exon4:c.T296A:p.F99Y,CBSL:NM_001354014:exon4:c.T296A:p.F99Y,CBSL:NM_001354015:exon4:c.T296A:p.F99Y,CBS:NM_001320298:exon5:c.T296A:p.F99Y,CBSL:NM_001354006:exon5:c.T296A:p.F99Y,CBSL:NM_001354007:exon5:c.T296A:p.F99Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1323595521	1.918e-05	3.021e-05	2.136e-05	1.74e-05	0.0008	7.89e-06	5.53e-06	0.0003	0.0002	0.0008	9.297e-05	0	0	0	0	0	0	0	2.731e-05	0.0002	4.99e-05	0	0.0002	0	0	.	.	0.0002	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	0.029445	0.25452	N	0.451882	1	0.08975	N	.	.	.	-5.52	0.99165	D	0.47	0.03090	N	0.22	0.28146	0.275	0.87155	D	0.728	0.90705	D	10	0.011392862	0.00249	T	0.145456	0.82764	D	0.243	0.54921	.	.	0.303781844768	0.29979	0.6347628337296591	0.63410	.	.	0.522314071655	0.41952	T	0.274257	0.64674	T	-0.282512	0.10403	T	-0.184443	0.56108	T	0.0144167181623514	0.00290	T	0.825517	0.48813	T	0.020461217	0.00606	0.039469555	0.04046	0.020461217	0.00606	0.039469555	0.04046	.	.	.	.	.	0.069	0.03231	B	.;.;.;.;.	.;.;.;.;.	1.442914	0.18626	13.84	0.79814335663967206	0.12913	0.76626	0.37596	D	AEFDBCI	.	.	.	-1.30257201737864	0.03646	0.1632357	-1.24855689625397	0.05152	0.2448237	0.999987313597367	0.51787	0.732398	0.92422	0	0.633656	0.55848	0	0.702456	0.68683	0	0.727631	0.95156	0	.	.	4.81	-3.74	0.04099	0.558000	0.23174	2.550000	0.33259	0.513000	0.23382	0.822000	0.30018	0.633000	0.25876	0.952000	0.50033	0.3069:0.1507:0.1008:0.4416	1.172	0.01715	.	.	Pyridoxal-phosphate dependent enzyme;Pyridoxal-phosphate dependent enzyme;Pyridoxal-phosphate dependent enzyme;Pyridoxal-phosphate dependent enzyme;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	198.66	24	chr21	6460207	.	A	T	198.66	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.03;DP=147;ExcessHet=0;FS=5.704;MLEAC=1;MLEAF=0.071;MQ=40.71;MQRankSum=-1.35;QD=7.95;ReadPosRankSum=-0.875;SOR=2.428	GT:AD:DP:GQ:PL	0/1:17,8:25:99:209,0,473	6	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	.	.	.	.	.	.	.	.	0.2143	7219.72	39	chr21	13610400	.	A	G	7219.72	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-0.716;DP=844;ExcessHet=1.1394;FS=0;MLEAC=3;MLEAF=0.214;MQ=57.86;MQRankSum=0.599;QD=10.3;ReadPosRankSum=-0.546;SOR=0.687	GT:AD:DP:GQ:PL	0/1:148,114:262:99:2620,0,3714	4	0	3	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	.	.	.	.	.	.	.	.	0.6429	21872.1	176	chr21	13610565	.	G	A	21872.1	.	AC=9;AF=0.643;AN=14;BaseQRankSum=2.87;DP=1134;ExcessHet=0.4813;FS=0;MLEAC=9;MLEAF=0.643;MQ=53.69;MQRankSum=-9.205;QD=20.58;ReadPosRankSum=0.352;SOR=0.683	GT:AD:DP:GQ:PL	1/1:0,205:205:99:6552,615,0	1	3	3	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	0.6429	15864.1	124	chr21	13610631	.	A	G	15864.1	.	AC=9;AF=0.643;AN=14;BaseQRankSum=-1.282;DP=916;ExcessHet=0.4813;FS=6.707;MLEAC=9;MLEAF=0.643;MQ=47.47;MQRankSum=-13.36;QD=18.64;ReadPosRankSum=0.419;SOR=1.139	GT:AD:DP:GQ:PL	1/1:0,154:154:99:4612,462,0	1	3	3	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	.	.	.	.	.	.	.	.	0.5714	10274.3	66	chr21	13641414	.	A	G	10274.3	.	AC=8;AF=0.571;AN=14;BaseQRankSum=-0.137;DP=637;ExcessHet=0.0509;FS=0.569;MLEAC=8;MLEAF=0.571;MQ=58.12;MQRankSum=-2.171;QD=17.56;ReadPosRankSum=-1.248;SOR=0.616	GT:AD:DP:GQ:PL	1/1:0,145:145:99:4036,435,0	2	3	2	0
chr21	30337361	30337361	T	A	exonic	KRTAP27-1	.	nonsynonymous SNV	KRTAP27-1:NM_001077711:exon1:c.A308T:p.E103V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.00656093475867	0.0005	0.00139776	0.0004	0	0.0009	0	0	0.0006	0.0011	0	0.0004528	70	154602	rs139988725	0.0010	0.0010	0.0010	0.0010	0.0012	0.0009	0.0009	0.0012	0.0012	0.0001	0.0009	0	0	0	0	0.0012	0.0006	1.159e-05	0.0007	0.0007	0.0009	0.0006	0.0023	0.0006	0.0006	0.0017	0.0015	0.0002	0	0.0023	0	0	0	0	0.0009	0.0024	0	0.158	0.23905	T	0.335	0.18286	T	0.802	0.45105	P	0.432	0.45448	B	0.300700	0.03953	N	1.586570	1	0.08975	N	1.39	0.34934	L	3.95	0.03382	T	-0.58	0.17417	N	0.199	0.21969	-0.9354	0.43333	T	0.009	0.03011	T	10	0.0055468082	0.00123	T	0.006561	0.17301	T	0.018	0.03083	.	.	0.137902524267	0.13322	0.1011675000391786	0.10047	0.0641064311591	0.07144	0.220100522041	0.01316	T	7.51E-4	0.00354	T	-0.589534	0.00169	T	-0.693715	0.06176	T	0.0293162453344729	0.01885	T	0.349665	0.07767	T	0.065674804	0.14060	0.04963609	0.07625	0.065674804	0.14060	0.04963609	0.07624	-3.335	0.14193	T	.	.	0.135	0.29283	B	.	.	2.407263	0.30938	18.59	0.977313557923288	0.35622	0.01609	0.05211	N	AEFBI	0.028458	0.02510	N	-0.746872539681153	0.14719	0.7355651	-0.908737465994183	0.11888	0.6083715	0.928231925456003	0.26921	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.44	-1.22	0.09005	-0.504000	0.06456	-0.041000	0.12668	0.609000	0.47794	0.000000	0.06391	0.000000	0.08366	0.023000	0.12082	0.0:0.3339:0.0:0.6661	8.098	0.29999	214	0.91692	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	2674.34	34	chr21	30337361	.	T	A	2674.34	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.584;DP=324;ExcessHet=0.3476;FS=1.836;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=14.94;ReadPosRankSum=1.07;SOR=0.563	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:44,36:80:99:0|1:30337361_T_A:950,0,1273:30337361	5	0	2	0
chr21	36232966	36232966	A	G	exonic	DOP1B	.	nonsynonymous SNV	DOP1B:NM_001320714:exon15:c.A2513G:p.Y838C,DOP1B:NM_005128:exon15:c.A2513G:p.Y838C	.	434	1083	5	0	0	5	0.00230309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.221	.	0.0048	0.00279553	0.0060	0.0009	0.0016	0	0.0224	0.0068	0.0088	0.0056	0.0057502	889	154602	rs142303619	0.0069	0.0069	0.0068	0.0070	0.0071	0.0068	0.0067	0.0070	0.0069	0.0009	0.0016	0.0020	0.0002	0.0204	0.0033	0.0071	0.0057	0.0060	0.0055	0.0055	0.0052	0.0058	0.0068	0.0052	0.0051	0.0063	0.0061	0.0012	0	0.0015	0.0029	0.0002	0.0238	0.0034	0.0068	0.0043	0.0056	0.146	0.25055	T	0.149	0.32568	T	0.998	0.73220	D	0.8	0.58175	P	0.009052	0.30540	N	0.380726	0.999998	0.08975	N	2.095	0.58118	M	-0.34	0.68474	T	-3.73	0.70920	D	0.408	0.44857	-0.7939	0.55502	T	0.248	0.61704	T	10	0.009080589	0.00205	T	.	.	.	0.221	0.51721	.	.	0.669206346033	0.66641	0.273427910411048	0.27255	0.233840886749	0.25922	0.475781321526	0.35477	T	0.082101	0.36751	T	-0.319322	0.06954	T	-0.225204	0.52235	T	0.0400255426204343	0.03695	T	0.915108	0.69728	D	0.1423712	0.32767	0.17213026	0.39445	0.1423712	0.32767	0.17213026	0.39444	-4.267	0.27712	T	.	.	0.092	0.13503	B	.	.	3.201824	0.43545	21.8	0.99663967705234013	0.78138	0.76600	0.37581	D	AEFGBI	0.129320	0.24745	N	0.341811299700431	0.58308	4.002344	0.299503923595694	0.55510	3.714028	0.793447337621975	0.24055	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.98	3.26	0.36471	2.632000	0.46177	2.747000	0.34506	0.756000	0.94297	0.985000	0.35982	0.408000	0.24745	0.860000	0.40782	0.7359:0.1316:0.1326:0.0	7.175	0.24917	934	0.15400	.	.	.	.	.	rs142303619	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003033	0.000000	0.001362	0.000000	0.000000	0.000000	0.006211	0.011364	0.07143	1750.44	45	chr21	36232966	.	A	G	1750.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.727;DP=338;ExcessHet=0;FS=2.095;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.99;ReadPosRankSum=-0.343;SOR=0.884	GT:AD:DP:GQ:PL	0/1:68,78:146:99:1761,0,1584	6	0	1	0
chr21	41918930	41918930	C	G	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G58C:p.D20H,C2CD2:NM_015500:exon4:c.G523C:p.D175H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	0.0154551292841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.655e-05	0.0018	8.339e-05	4.965e-05	7.588e-05	5.548e-05	5.15e-05	6.221e-05	5.689e-05	6.157e-05	0	0	2.542e-05	0	0	7.588e-05	0.0001	2.345e-05	0	1.972e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.081	0.39575	T	0.008	0.69154	D	0.991	0.64070	D	0.635	0.51908	P	0.000159	0.49130	D	0.177285	0.997695	0.47157	D	.	.	.	1.75	0.26301	T	-3.35	0.67241	D	0.495	0.52829	-1.0406	0.17132	T	0.094	0.35578	T	10	0.36435574	0.52982	T	0.015455	0.36203	T	0.184	0.45763	0.5	0.59147	0.412715890961	0.40891	0.48026109495753466	0.47946	0.939492545994	0.72166	0.386622190475	0.23192	T	0.11001	0.42436	T	-0.0654905	0.42045	T	-0.331849	0.41263	T	0.957460343837738	0.65017	D	0.80112	0.44691	T	0.13993374	0.32304	0.19344127	0.42913	0.13993374	0.32304	0.19344127	0.42912	-4.866	0.35351	T	.	.	0.297	0.52720	B	.;.	.;.	3.167608	0.42947	21.6	0.98968893955553749	0.49481	0.97817	0.77351	D	AEFGBCI	0.178683	0.30595	N	0.120232727473123	0.47407	2.966873	0.0765168796991302	0.43369	2.640186	0.999806047820681	0.43304	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	4.65	0.57626	2.712000	0.46854	2.536000	0.33191	-0.193000	0.09282	0.998000	0.41325	0.990000	0.31317	0.261000	0.23543	0.0:0.9112:0.0:0.0888	10.542	0.44226	985	0.02828	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.375	310.05	40	chr21	41918930	.	C	G	310.05	.	AC=3;AF=0.375;AN=8;BaseQRankSum=-3.437;DP=383;ExcessHet=1.1394;FS=141.994;MLEAC=4;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.37;ReadPosRankSum=0.813;SOR=7.111	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:64,15:79:99:0|1:41918930_C_G:277,0,2519:41918930	1	0	3	3
chr21	41918931	41918931	C	G	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G57C:p.E19D,C2CD2:NM_015500:exon4:c.G522C:p.E174D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.00492569628037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.451e-05	0.0016	7.555e-05	5.341e-05	7.873e-05	5.358e-05	4.967e-05	6.511e-05	5.999e-05	6.098e-05	0	0	0	0	0	7.873e-05	6.752e-05	1.17e-05	0	1.971e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.236	0.18061	T	0.601	0.07919	T	0.026	0.19406	B	0.018	0.18489	B	0.000050	0.53742	N	0.125982	0.99197	0.25906	N	.	.	.	1.63	0.29342	T	-1.04	0.27259	N	0.215	0.24010	-1.0662	0.10269	T	0.041	0.17530	T	10	0.08271399	0.13680	T	0.004926	0.12380	T	0.072	0.21020	0.35	0.34760	0.220303561663	0.21668	0.1572690006054573	0.15647	0.316597008402	0.33914	0.371157944202	0.20998	T	0.066614	0.32991	T	-0.190454	0.22190	T	-0.51135	0.21176	T	0.0971272264662142	0.12037	T	0.621038	0.23867	T	0.06723062	0.14539	0.068933986	0.14461	0.06723062	0.14538	0.068933986	0.14461	-4.061	0.26403	T	.	.	0.138	0.30076	B	.;.	.;.	-0.008587	0.04225	1.036	0.97585889396706837	0.34764	0.55769	0.29947	D	AEFGBCI	0.075069	0.15065	N	-1.00383072654947	0.08524	0.3999859	-1.03972205038638	0.08921	0.4411397	0.987282828575251	0.31228	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	-3.89	0.03916	-2.263000	0.01256	-2.617000	0.03544	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.255000	0.23391	0.0:0.2473:0.135:0.6177	7.143	0.24745	985	0.02828	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.375	336.45	40	chr21	41918931	.	C	G	336.45	.	AC=3;AF=0.375;AN=8;BaseQRankSum=-2.787;DP=380;ExcessHet=1.1394;FS=145.649;MLEAC=4;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.47;ReadPosRankSum=0.618;SOR=7.167	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:64,15:79:99:0|1:41918930_C_G:277,0,2519:41918930	1	0	3	3
chr21	41918933	41918933	C	G	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G55C:p.E19Q,C2CD2:NM_015500:exon4:c.G520C:p.E174Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.0219031869935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.478e-05	0.0011	4.439e-05	2.512e-05	4.037e-05	2.676e-05	2.415e-05	3.06e-05	2.725e-05	3.035e-05	0	0	0	0	0	4.037e-05	6.709e-05	1.166e-05	0	6.568e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.094	0.31383	T	0.077	0.42436	T	0.993	0.65571	D	0.796	0.58006	P	0.000050	0.53742	D	0.125982	0.558298	0.35134	D	.	.	.	1.45	0.34050	T	-1.93	0.45404	N	0.445	0.48319	-0.8942	0.48558	T	0.124	0.42799	T	10	0.385596	0.54516	T	0.021903	0.44729	T	0.123	0.34020	0.335	0.32329	0.475272412942	0.47157	0.2669297999209157	0.26605	0.875831749287	0.69562	0.368384510279	0.20599	T	0.169624	0.51706	T	-0.071456	0.41094	T	-0.340418	0.40296	T	0.892000317573547	0.54302	D	0.780422	0.42483	T	0.12762854	0.29860	0.090659045	0.21273	0.12762854	0.29860	0.090659045	0.21273	-4.173	0.26359	T	.	.	0.172	0.37802	B	.;.	.;.	3.657104	0.51934	23.2	0.99734899065078686	0.83047	0.98645	0.85080	D	AEFGBCI	0.411583	0.48200	N	0.342246259245579	0.58331	4.00473	0.324919729865026	0.57008	3.865243	0.999999844603992	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	5.53	0.82530	5.201000	0.64999	4.599000	0.43989	0.599000	0.40250	0.989000	0.36753	1.000000	0.68203	0.215000	0.22324	0.0:1.0:0.0:0.0	14.966	0.70847	985	0.02828	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	324.25	46	chr21	41918933	.	C	G	324.25	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-3.215;DP=390;ExcessHet=1.1394;FS=127.511;MLEAC=4;MLEAF=0.4;MQ=60;MQRankSum=0;QD=1.37;ReadPosRankSum=0.646;SOR=6.993	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:63,15:78:99:0|1:41918930_C_G:280,0,2486:41918930	2	0	3	2
chr21	41918935	41918935	C	T	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G53A:p.R18K,C2CD2:NM_015500:exon4:c.G518A:p.R173K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00359601692473	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1386150948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.761	0.08359	T	0.824	0.03783	T	0.006	0.13644	B	0.003	0.08700	B	0.052137	0.22921	N	0.460473	1	0.08975	N	.	.	.	1.97	0.22067	T	-0.97	0.25770	N	0.104	0.11483	-0.9676	0.37693	T	0.029	0.12453	T	10	0.038707197	0.02307	T	0.003596	0.08216	T	0.021	0.04004	0.329	0.31357	0.206339911435	0.20273	0.2555764771231582	0.25471	0.271759973214	0.29688	0.306375771761	0.11360	T	0.066724	0.33019	T	-0.387639	0.02786	T	-0.625465	0.10761	T	0.0195589058417432	0.00659	T	0.449255	0.12651	T	0.03039478	0.02696	0.03585901	0.02919	0.03039478	0.02695	0.03585901	0.02918	-2.169	0.04452	T	.	.	0.084	0.09772	B	.;.	.;.	0.305913	0.06811	3.337	0.60145959432842899	0.06393	0.56893	0.30234	D	AEFGBCI	0.066391	0.12999	N	-1.29262350574295	0.03763	0.1686914	-1.29128918624558	0.04547	0.2147446	0.925456163519065	0.26816	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	0.664	0.17060	0.183000	0.16729	-0.306000	0.10077	-0.800000	0.03169	0.000000	0.06391	0.000000	0.08366	0.096000	0.18090	0.0:0.5278:0.1455:0.3267	4.864	0.12958	985	0.02828	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	263.44	46	chr21	41918935	.	C	T	263.44	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-3.211;DP=306;ExcessHet=0.3476;FS=91.04;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=1.69;ReadPosRankSum=2.12;SOR=6.357	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:62,14:77:99:.:.:255,0,2444:.	5	0	2	0
chr21	42137640	42137722	AGGTGGGTGCGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAAGGTGGGTGTGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAG	0	splicing	UMODL1	.	.	.	.	432	559	239	60	232	591	0.24306	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	2812.68	33	chr21	42137640	.	AGGTGGGTGCGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAAGGTGGGTGTGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAG	*	2812.68	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.58;DP=360;ExcessHet=0;FS=0.937;MLEAC=2;MLEAF=0.143;MQ=59.93;MQRankSum=0;QD=17.92;ReadPosRankSum=-1.281;SOR=0.904	GT:AD:DP:GQ:PL	0/1:0,24:45:99:1619,844,1504	5	0	2	0
chr21	44533884	44533884	C	T	exonic	TSPEAR	.	nonsynonymous SNV	TSPEAR:NM_144991:exon3:c.G343A:p.D115N,TSPEAR:NM_001272037:exon4:c.G139A:p.D47N	Deafness, autosomal recessive 98, Autosomal recessive	7	1497	17	1	0	19	0.00630601	.	.	.	497833	not_provided|TSPEAR-related_disorder|not_specified	MedGen:C3661900|.|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.045	0.0150867576654	0.0022	0.00139776	0.0012	0.0042	0.0013	0	0.0002	0.0009	0.0012	0.0014	0.0010673	165	154602	rs144586270	0.0009	0.0009	0.0009	0.0009	0.0236	0.0008	0.0008	0.0204	0.0191	0.0054	0.0013	0.0006	2.519e-05	3.843e-05	0.0236	0.0006	0.0021	0.0015	0.0019	0.0019	0.0018	0.0019	0.0044	0.0017	0.0016	0.0039	0.0037	0.0044	0	0.0016	0.0014	0	9.47e-05	0.0136	0.0008	0.0052	0.0006	0.456	0.08839	T	0.533	0.10000	T	0.01	0.15535	B	0.002	0.06944	B	0.031530	0.25155	N	0.462162	1	0.08975	N	1.64	0.41913	L	4.52	0.01997	T	-0.45	0.14782	N	0.206	0.22870	-0.9011	0.47878	T	0.004	0.01192	T	10	0.003951758	0.00076	T	0.015087	0.35618	T	0.045	0.12272	.	.	0.0138822411134	0.00435	0.4449944534404492	0.44417	0.0634877606661	0.07066	0.592923879623	0.51908	T	0.038484	0.24856	T	-0.694762	0.00039	T	-0.770213	0.02761	T	0.0016713093738103	0.00017	T	0.864713	0.56210	D	0.0322466	0.03213	0.021476898	0.00198	0.0322466	0.03212	0.021476898	0.00198	-3.88	0.22002	T	0.11579110290324453	0.10399	0.106	0.19518	B	.;.	.;.	1.356134	0.17643	13.29	0.94917309531815186	0.25787	0.13227	0.17736	N	AEFDBI	0.152058	0.27667	N	-1.07096360472456	0.07182	0.3328898	-1.04269786127353	0.08860	0.4377163	0.926103053978709	0.26839	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	4.95	3.12	0.34986	0.775000	0.26351	1.171000	0.24625	-0.184000	0.09925	0.010000	0.18352	0.080000	0.22369	0.090000	0.17789	0.0:0.5886:0.1629:0.2484	5.447	0.15839	970	0.06235	Laminin G domain;Laminin G domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.022200	0.005051	0.036785	0.032164	0.050000	0.035088	0.006098	0.007576	0.07143	979.53	34	chr21	44533884	.	C	T	979.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.57;DP=250;ExcessHet=0;FS=0.902;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.6;ReadPosRankSum=1.83;SOR=0.854	GT:AD:DP:GQ:PL	0/1:32,40:72:99:990,0,653	6	0	1	0
chr21	44551034	44551034	A	G	exonic	KRTAP10-2	.	nonsynonymous SNV	KRTAP10-2:NM_198693:exon1:c.T425C:p.V142A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.0020677754418	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.33418	T	0.724	0.05274	T	0.264	0.31602	B	0.07	0.27859	B	.	.	.	.	0.999999	0.08975	N	3.375	0.91388	M	5.86	0.00639	T	-2.1	0.47852	N	0.026	0.00527	-0.9452	0.41781	T	0.004	0.01159	T	9	0.110670686	0.20693	T	0.002068	0.03801	T	0.107	0.30369	0.337	0.32654	0.0297737177859	0.01360	0.031312288970946504	0.03080	0.0649205361003	0.07250	0.21933118999	0.01272	T	0.068	0.33423	T	-0.248159	0.14325	T	-0.59424	0.13300	T	0.176128617925031	0.18987	T	0.079692	0.00587	T	0.101785	0.24046	0.11898601	0.28721	0.101785	0.24045	0.11898601	0.28720	-7.608	0.58367	D	.	.	0.137	0.29779	B	.	.	1.133299	0.15202	11.67	0.68649920505881068	0.08724	0.01864	0.05751	N	AEFDBHCI	0.016230	0.00353	N	-0.968161164653523	0.09289	0.4390299	-1.19915603613086	0.05925	0.2836907	0.999999983532289	0.74766	0.615755	0.39536	0	0.563428	0.19063	0	0.618376	0.41669	0	0.562822	0.20929	0	.	.	3.47	-5.9	0.02087	-1.130000	0.03353	-20.000000	0.00162	0.704000	0.85292	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.2866:0.1621:0.2317:0.3196	0.102	0.00046	976	0.04745	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	3900.44	165	chr21	44551034	.	A	G	3900.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.482;DP=1534;ExcessHet=0;FS=2.559;MLEAC=1;MLEAF=0.071;MQ=59.93;MQRankSum=-0.888;QD=13.45;ReadPosRankSum=-0.309;SOR=0.549	GT:AD:DP:GQ:PL	0/1:129,161:290:99:3911,0,3270	6	0	1	0
chr21	44637763	44637763	G	A	exonic	KRTAP10-10	.	nonsynonymous SNV	KRTAP10-10:NM_181688:exon1:c.G346A:p.V116M	.	419	1100	1	0	2	3	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	.	0.0059	0.00579073	0.0016	0.0168	0.0009	0	0.0011	4.503e-05	0	0.0002	0.0015653	242	154602	rs60500206	0.0007	0.0006	0.0008	0.0006	0.0263	0.0007	0.0006	0.0245	0.0238	0.0263	0.0013	0	5.281e-05	0.0008	0.0026	8.688e-05	0.0014	0.0001	0.0050	0.0050	0.0054	0.0045	0.0174	0.0047	0.0045	0.0164	0.0159	0.0174	0	0.0016	0	0	0.0008	0.0072	5.936e-05	0.0039	0	0.108	0.29420	T	0.108	0.37589	T	0.998	0.73220	D	0.806	0.58437	P	.	.	.	.	1	0.08975	N	3.48	0.92553	M	4.96	0.01366	T	-0.7	0.19933	N	0.136	0.13341	-0.9838	0.34116	T	0.005	0.01542	T	9	0.0048567653	0.00103	T	.	.	.	0.023	0.04649	.	.	0.238705975628	0.23479	0.030460013419046823	0.02995	0.0500424413374	0.05496	0.263081908226	0.05262	T	0.021564	0.16767	T	-0.669473	0.00055	T	-0.720803	0.04757	T	0.0406474130826694	0.03807	T	0.0145985	0.00080	T	0.056676358	0.11181	0.061986573	0.12055	0.056676358	0.11180	0.061986573	0.12055	-6.953	0.53690	T	.	.	0.111	0.21728	B	.	.	1.085854	0.14694	11.24	0.9019830517191566	0.19473	0.00268	0.01460	N	AEFDGBHI	0.020735	0.00849	N	-0.504750831884084	0.21926	1.167182	-0.796574698073904	0.14579	0.7624747	0.286646566186326	0.19043	0.608966	0.35542	0	0.573888	0.26702	0	0.769059	0.98459	0	0.613276	0.41899	0	.	.	3.47	-2.47	0.06070	-0.063000	0.11612	-3.387000	0.02826	0.503000	0.22915	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3547:0.0:0.4884:0.1569	4.708	0.12239	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.000000	0.002717	0.005848	0.000000	0.000000	0.000000	0.000000	0.08333	5744.27	33	chr21	44637763	.	G	A	5744.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.63;DP=1574;ExcessHet=0;FS=1.108;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.68;ReadPosRankSum=1.72;SOR=0.577	GT:AD:DP:GQ:PL	0/1:193,227:420:99:5754,0,4413	5	0	1	1
chr21	44697482	44697482	G	A	exonic	KRTAP10-12	.	nonsynonymous SNV	KRTAP10-12:NM_198699:exon1:c.G281A:p.C94Y	.	393	1128	1	0	0	1	0.000443066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.173	0.0025540283461	.	.	8.292e-06	0	0	0	0	1.503e-05	0	0	.	.	.	rs782258353	6.157e-06	6.84e-06	1.361e-06	1.1e-05	0.0005	2.9e-06	2.1e-06	0.0001	7.555e-05	5.981e-05	0	0	0	0	0.0005	1.799e-06	1.656e-05	1.159e-05	1.313e-05	1.312e-05	0	2.686e-05	2.405e-05	2.18e-06	8.2e-07	.	.	2.405e-05	0	0	0	0	0	0	1.47e-05	0	0	0.016	0.51853	D	0.014	0.67890	D	0.995	0.67487	D	0.879	0.62418	P	.	.	.	.	0.999982	0.54805	D	3.735	0.94896	H	4.38	0.02255	T	-10.29	0.98960	D	0.31	0.34981	-1.0813	0.07099	T	0.038	0.16419	T	9	0.4236558	0.57030	T	0.002554	0.05121	T	0.173	0.43840	.	.	0.119812018005	0.11559	0.09495679103829552	0.09427	0.453621968421	0.45050	0.284245431423	0.08091	T	0.174941	0.52435	T	-0.200639	0.20712	T	-0.429127	0.30033	T	0.650244116783142	0.38472	D	0.567243	0.20104	T	0.60575134	0.73000	0.732559	0.84196	0.60575134	0.73001	0.732559	0.84197	-7.561	0.58038	D	.	.	0.156	0.46574	B	.;.	.;.	4.261477	0.64772	24.7	0.91591214707755841	0.20873	0.80840	0.40377	D	AEFBI	0.390367	0.46922	N	0.393879053139913	0.61091	4.305556	0.192222494582438	0.49419	3.145404	0.998616191383482	0.37309	0.446893	0.09132	0	0.563428	0.19063	0	0.491513	0.07944	0	0.530356	0.10902	0	.	.	3.49	2.55	0.29757	2.543000	0.45411	7.176000	0.57738	0.618000	0.50648	0.987000	0.36337	1.000000	0.68203	0.898000	0.43474	0.0:0.4177:0.5823:0.0	9.643	0.39013	988	0.01987	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001586	0.005051	0.001359	0.000000	0.000000	0.008621	0.000000	0.000000	0.07143	3602.44	37	chr21	44697482	.	G	A	3602.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-4.184;DP=510;ExcessHet=0;FS=2.608;MLEAC=1;MLEAF=0.071;MQ=58.31;MQRankSum=-4.575;QD=12.42;ReadPosRankSum=-1.62;SOR=0.542	GT:AD:DP:GQ:PL	0/1:146,144:290:99:3613,0,3944	6	0	1	0
chr21	45476424	45476424	C	T	exonic	COL18A1	.	nonsynonymous SNV	COL18A1:NM_030582:exon5:c.C1412T:p.T471M,COL18A1:NM_130444:exon5:c.C2117T:p.T706M,COL18A1:NM_001379500:exon6:c.C872T:p.T291M	Knobloch syndrome, type 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1410558	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.184	0.0568091953258	0.0002	0.000199681	3.531e-05	0.0003	0	0	0	1.583e-05	0	0	3.88e-05	6	154602	rs201652671	3.352e-05	3.352e-05	3.812e-05	2.888e-05	0.0009	2.566e-05	2.312e-05	0.0003	0.0002	0.0003	0.0001	0	0.0002	0	0.0009	1.439e-05	0.0001	0	0.0001	0.0001	8.994e-05	0.0001	0.0003	6.507e-05	5.319e-05	0.0002	0.0001	0.0003	0	0.0001	0	0	0	0	2.94e-05	0	0	0.013	0.58626	D	0.263	0.26386	T	0.067	0.23653	B	0.006	0.12133	B	0.016462	0.01442	U	2.966360	1	0.08975	N	1.15	0.29295	L	-2.69	0.90679	D	-1.31	0.33998	N	0.134	0.15888	-0.5997	0.64830	T	0.438	0.77739	T	10	0.05076924	0.04859	T	0.056809	0.66741	D	0.184	0.45763	.	.	0.547723574548	0.54429	0.31211286695778817	0.31124	0.0698313257838	0.07817	0.474643886089	0.35320	T	0.043667	0.26572	T	-0.36612	0.03795	T	-0.409649	0.32265	T	0.0207610295120357	0.00776	T	0.454055	0.12934	T	0.009733912	0.00004	0.02461318	0.00485	0.009733912	0.00004	0.02461318	0.00485	-5.361	0.40543	T	0.10902190478532366	0.09056	0.078	0.07083	B	.;.;.	.;.;.	-0.486493	0.01911	0.160	0.9575769915884137	0.27741	0.01149	0.04157	N	AEFBCI	0.062356	0.11981	N	-1.46086344635336	0.02133	0.09385224	-1.60123285351855	0.01648	0.07479524	0.999999989915858	0.74766	0.706548	0.73137	0	0.633656	0.55848	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	3.85	-7.69	0.01124	-3.532000	0.00490	-5.949000	0.01543	-1.936000	0.00495	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.3376:0.1527:0.1063:0.4034	1.015	0.01411	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	1	0	0	1	0	0	0	0.001008	0.005051	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.07143	2373.44	33	chr21	45476424	.	C	T	2373.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.174;DP=398;ExcessHet=0;FS=1.111;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.3;ReadPosRankSum=-1.801;SOR=0.787	GT:AD:DP:GQ:PL	0/1:92,101:193:99:2384,0,2111	6	0	1	0
chr21	45516029	45516029	C	A	exonic	SLC19A1	.	nonsynonymous SNV	SLC19A1:NM_001205207:exon5:c.G1285T:p.A429S,SLC19A1:NM_001352510:exon6:c.G1051T:p.A351S,SLC19A1:NM_001352512:exon6:c.G1405T:p.A469S,SLC19A1:NM_194255:exon6:c.G1405T:p.A469S	.	406	1114	2	0	0	2	0.000896861	.	.	.	1493081	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.075	0.0321193237204	.	0.000199681	3.481e-05	0.0004	0	0	0	0	0	0	4.53e-05	7	154602	rs560827689	7.643e-05	7.73e-05	7.638e-05	7.648e-05	0.0009	6.473e-05	6.019e-05	0.0007	0.0006	0.0009	0.0003	0	0	0	0.0007	3.651e-05	0.0004	1.22e-05	0.0002	0.0002	0.0003	0.0002	0.0007	0.0002	0.0002	0.0005	0.0005	0.0007	0	0.0001	0	0	0	0.0068	1.47e-05	0.0005	0	0.23	0.20306	T	0.118	0.36233	T	0.851	0.46962	P	0.253	0.39112	B	0.000000	0.00162	N	451.977000	1	0.81001	D	1.65	0.42232	L	1.9	0.23486	T	-1.06	0.37178	N	0.061	0.15187	-1.0212	0.23324	T	0.054	0.22959	T	10	0.061697453	0.07774	T	0.032119	0.54029	D	0.075	0.21907	0.221	0.14371	0.311387274539	0.30754	0.2003151886825893	0.19948	0.135676566902	0.15297	0.399641990662	0.25019	T	0.052236	0.29105	T	-0.504845	0.00537	T	-0.565427	0.15870	T	0.0340638505801044	0.02648	T	0.40416	0.10358	T	0.104690075	0.24749	0.07985854	0.18014	0.104690075	0.24749	0.07985854	0.18013	-4.246	0.27484	T	.	.	0.083	0.09288	B	.;.	.;.	0.899034	0.12729	9.249	0.99383546886377716	0.61979	0.86669	0.45999	D	AEFBCI	0.387055	0.46718	N	-0.0486495357496316	0.39664	2.342641	-0.0252224818274314	0.38579	2.274968	0.999095615804729	0.38425	0.67177	0.52595	0	0.702456	0.74545	0	0.606735	0.37207	0	0.636168	0.56350	0	.	.	4.32	4.32	0.50899	0.320000	0.19288	0.371000	0.17677	0.544000	0.25403	0.000000	0.06391	0.036000	0.21445	0.006000	0.07323	0.0:1.0:0.0:0.0	12.729	0.56560	580	0.69689	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.002037	0.000000	0.004098	0.002941	0.000000	0.000000	0.000000	0.000000	0.07143	778.46	34	chr21	45516029	.	C	A	778.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.594;DP=245;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.66;ReadPosRankSum=-0.457;SOR=0.572	GT:AD:DP:GQ:PL	0/1:26,31:57:99:789,0,647	6	0	1	0
chr21	46132277	46132277	G	A	exonic	COL6A2	.	nonsynonymous SNV	COL6A2:NM_001849:exon28:c.G2785A:p.V929M	Bethlem myopathy 1, Autosomal recessive, Autosomal dominant;Ullrich congenital muscular dystrophy 1, Autosomal recessive, Autosomal dominant	0	1514	8	0	0	8	0.00263505	.	.	YES	269955	Bethlem_myopathy_1A|not_provided|Collagen_6-related_myopathy|Ullrich_congenital_muscular_dystrophy_1A	MONDO:MONDO:0024530,MedGen:CN029274,OMIM:158810,Orphanet:610|MedGen:C3661900|MONDO:MONDO:0100225,MedGen:CN117976|MONDO:MONDO:0009681,MedGen:C0410179,OMIM:254090,Orphanet:75840	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.473	0.251040784075	0.0002	0.000199681	0.0002	0	0.0001	0	0	0.0002	0	0.0004	0.0001552	24	154602	rs145527336	0.0002	0.0002	0.0002	0.0002	0.0036	0.0001	0.0001	0.0024	0.0021	0.0001	0.0003	0	0	0	0.0036	0.0001	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	9.696e-05	0.0002	0.0002	4.813e-05	0	0.0001	0	0	0	0	0.0003	0	0.0002	0.081	0.33418	T	0.123	0.35582	T	1.0	0.90584	D	0.988	0.77976	D	0.015856	0.28136	U	0.313934	0.999999	0.58761	D	2.32	0.66415	M	-1.16	0.78082	T	-0.41	0.14000	N	0.634	0.64733	0.061	0.83442	D	0.569	0.84381	D	10	0.5866204	0.66147	D	0.251041	0.89116	D	0.473	0.76619	.	.	0.846654732685	0.84518	0.778402159540574	0.77790	0.604138712811	0.55366	0.716341853142	0.69514	T	0.170631	0.51844	T	-0.0836815	0.39113	T	-0.0340358	0.68101	D	0.196997237944013	0.20249	T	0.784022	0.42156	T	0.06302385	0.13228	0.06363048	0.12633	0.06302385	0.13227	0.06363048	0.12633	-2.237	0.04224	T	0.4558369978791214	0.53885	0.484	0.63867	A	.	.	4.136798	0.61946	24.4	0.98036681249520852	0.37758	0.94361	0.60920	D	AEFDBCI	0.821846	0.74231	D	0.284783801192554	0.55377	3.701778	0.144463669919768	0.46849	2.924302	0.99999999989157	0.74766	0.718356	0.82227	0	0.547309	0.14657	0	0.570548	0.19454	0	0.567892	0.33627	0	.	.	4.18	4.18	0.48473	5.423000	0.66197	6.509000	0.55803	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.008000	0.08271	0.0:0.1695:0.8305:0.0	12.418	0.54839	982	0.03397	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002016	0.000000	0.004087	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	1706.45	59	chr21	46132277	.	G	A	1706.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.29;DP=387;ExcessHet=0;FS=0.715;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.24;ReadPosRankSum=2.73;SOR=0.591	GT:AD:DP:GQ:PL	0/1:46,66:112:99:1717,0,1026	6	0	1	0
chr21	46266123	46266123	A	C	exonic	MCM3AP	.	nonsynonymous SNV	MCM3AP:NM_003906:exon11:c.T2833G:p.L945V	.	419	1074	29	0	0	29	0.0133211	.	.	.	717271	MCM3AP-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.034	.	0.0047	0.00279553	0.0064	0.0008	0.0122	0	0.0089	0.0079	0.0188	0.0015	0.0059443	919	154602	rs144904756	0.0062	0.0062	0.0061	0.0063	0.0259	0.0061	0.0060	0.0225	0.0212	0.0014	0.0082	0.0256	0	0.0092	0.0259	0.0060	0.0079	0.0013	0.0049	0.0049	0.0048	0.0050	0.0057	0.0046	0.0045	0.0052	0.0050	0.0014	0	0.0053	0.0265	0	0.0094	0.0136	0.0057	0.0090	0.0006	0.357	0.12032	T	0.095	0.39492	T	0.146	0.27821	B	0.09	0.29851	B	0.001426	0.39044	N	0.219769	1	0.08975	N	1.905	0.50856	L	3.8	0.03781	T	-0.6	0.17834	N	0.442	0.48780	-1.0162	0.24948	T	0.010	0.03673	T	10	0.003976971	0.00077	T	.	.	.	0.034	0.08419	.	.	0.240615537116	0.23683	0.23897188706661074	0.23811	0.241407247156	0.26664	0.35556179285	0.18738	T	0.089058	0.38292	T	-0.672393	0.00053	T	-0.733917	0.04152	T	0.00493454904149325	0.00053	T	0.715328	0.32778	T	0.02376417	0.01144	0.034527432	0.02536	0.031549335	0.03014	0.034527432	0.02535	-5.563	0.42453	T	.	.	0.081	0.08081	B	.;.	.;.	0.158927	0.05500	1.963	0.68637270778372683	0.08720	0.29821	0.23922	N	AEFDBCI	0.106285	0.21211	N	-1.07576092996927	0.07092	0.3284427	-1.17687587523784	0.06297	0.3027039	0.742497390098923	0.23234	0.706548	0.73137	0	0.702456	0.74545	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.67	-3.91	0.03892	0.808000	0.26813	0.308000	0.17052	-0.208000	0.08445	0.158000	0.23769	0.000000	0.08366	0.438000	0.27627	0.412:0.1217:0.4664:0.0	8.573	0.32744	952	0.10565	Proteasome component (PCI) domain;Proteasome component (PCI) 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	0.022155	0.010101	0.031250	0.023392	0.000000	0.025862	0.018293	0.007576	0.1429	1046.24	41	chr21	46266123	.	A	C	1046.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0;DP=302;ExcessHet=0.3476;FS=2.502;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=9.34;ReadPosRankSum=1.99;SOR=0.457	GT:AD:DP:GQ:PL	0/1:60,46:106:99:987,0,1520	5	0	2	0
chr21	46416534	46416534	A	G	exonic	PCNT	.	nonsynonymous SNV	PCNT:NM_001315529:exon30:c.A6262G:p.T2088A,PCNT:NM_006031:exon30:c.A6616G:p.T2206A	Microcephalic osteodysplastic primordial dwarfism, type II, Autosomal recessive	1	1520	1	0	0	1	0.000328839	.	.	.	169685	Microcephalic_osteodysplastic_primordial_dwarfism_type_II|not_specified|not_provided	MONDO:MONDO:0008872,MedGen:C0432246,OMIM:210720,Orphanet:2637|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.044	.	0.0092	0.00998403	0.0025	0.0289	0.0012	0	0	0	0	6.061e-05	0.0025161	389	154602	rs9981448	0.0008	0.0008	0.0009	0.0007	0.0271	0.0007	0.0007	0.0256	0.0251	0.0271	0.0018	0	0	0	0.0009	1.799e-05	0.0018	5.797e-05	0.0078	0.0078	0.0084	0.0072	0.0270	0.0074	0.0073	0.0257	0.0252	0.0270	0	0.0031	0	0	0	0	8.821e-05	0.0057	0	0.794	0.03167	T	0.967	0.02503	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.72	0.01791	N	4.96	0.01366	T	-0.09	0.08340	N	0.026	0.00527	-0.9112	0.46707	T	0.001	0.00222	T	9	0.0027277768	0.00042	T	.	.	.	0.044	0.11924	.	.	0.231873229951	0.22792	0.140261456309479	0.13949	0.0791875301979	0.08910	0.22380104661	0.01541	T	0.019938	0.15791	T	-0.785061	0.00010	T	-0.87815	0.00670	T	0.00295473884415086	0.00031	T	0.230977	0.03126	T	0.014960776	0.00116	0.019385472	0.00087	0.014960776	0.00115	0.019385472	0.00087	-2.988	0.10052	T	.	.	0.064	0.01645	B	.	.	-1.517077	0.00284	0.005	0.24758091356894657	0.01110	0.01243	0.04382	N	AEFDBCI	0.012073	0.00122	N	-2.00387713705645	0.00208	0.008894735	-2.06667194091944	0.00220	0.00969789	0.999958394116742	0.48110	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.82	-9.64	0.00453	-3.418000	0.00531	-0.499000	0.08813	-1.000000	0.01814	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4217:0.165:0.1831:0.2301	0.650	0.00772	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	1	0	0.003021	0.015152	0.004076	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	2427.44	41	chr21	46416534	.	A	G	2427.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.667;DP=493;ExcessHet=0;FS=3.682;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.95;ReadPosRankSum=0.728;SOR=0.491	GT:AD:DP:GQ:PL	0/1:138,106:244:99:2438,0,3594	6	0	1	0
chr22	15690401	15690401	C	G	exonic	POTEH	.	nonsynonymous SNV	POTEH:NM_001136213:exon1:c.C324G:p.C108W	.	457	1026	36	2	1	41	0.0191205	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs202187764	0.0033	0.0074	0.0029	0.0037	0.0183	0.0032	0.0032	0.0171	0.0167	0.0011	0.0050	0.0038	0.0183	0.0040	0.0023	0.0019	0.0042	0.0138	0.0013	0.0045	0.0010	0.0016	0.0057	0.0011	0.0010	0.0036	0.0030	0.0004	0	0.0014	0.0008	0.0050	0.0046	0	0.0008	0.0013	0.0057	0.135	0.26192	T	0.081	0.41742	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.2	0.37405	T	-1.44	0.35399	N	0.357	0.39861	.	.	.	.	.	.	.	0.045320213	0.03589	T	.	.	.	.	.	.	.	.	.	0.7988924948495643	0.79842	.	.	.	.	.	0.012318	0.10847	T	.	.	.	.	.	.	.	.	.	0.491551	0.15120	T	.	.	.	.	.	.	.	.	-2.632	0.06750	T	.	.	0.132	0.28377	B	.	.	0.989631	0.13675	10.21	.	.	.	.	.	.	0.081464	0.16484	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.401000	0.07293	.	.	-1.191000	0.01374	0.016000	0.19238	0.000000	0.08366	0.002000	0.04165	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	475.21	37	chr22	15690401	.	C	G	475.21	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.8;DP=282;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=41.4;MQRankSum=0.117;QD=31.68;ReadPosRankSum=-1.044;SOR=1.179	GT:AD:DP:GQ:PL	1/1:1,14:15:35:496,35,0	6	1	0	0
chr22	17209656	17209656	C	T	exonic	ADA2	.	nonsynonymous SNV	ADA2:NM_001282225:exon2:c.G22A:p.E8K,ADA2:NM_001282226:exon2:c.G22A:p.E8K	Polyarteritis nodosa, childhood-onset, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1477371	Vasculitis_due_to_ADA2_deficiency|not_provided	MONDO:MONDO:0014306,MedGen:C3887654,OMIM:615688,Orphanet:404553|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.157	0.00498876477915	.	.	.	.	.	.	.	.	.	.	.	.	.	rs914839065	1.369e-05	1.368e-05	1.771e-05	9.635e-06	1.529e-05	8.94e-06	7.27e-06	9.32e-06	7.62e-06	0	0	0	0	0	0	1.529e-05	4.971e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.844	0.03354	T	0.513	0.19246	T	0.0	0.02946	B	0.0	0.01387	B	0.112492	0.02652	N	1.808160	1	0.08975	N	.	.	.	0.98	0.42122	T	-0.12	0.08809	N	0.079	0.07262	-1.0615	0.11385	T	0.050	0.21182	T	10	0.072144836	0.10731	T	0.004989	0.12598	T	0.157	0.40909	0.4	0.42917	0.110078149338	0.10416	0.7070146041545062	0.70643	0.0484411646669	0.05293	0.367300450802	0.20443	T	0.002657	0.04396	T	-0.174779	0.24514	T	-0.488835	0.23513	T	0.0252435365580537	0.01304	T	0.59464	0.22635	T	0.06673002	0.14386	0.05820858	0.10716	0.06673002	0.14386	0.05820858	0.10716	-2.41	0.05195	T	.	.	0.086	0.10835	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.024167	0.04450	1.175	0.79765432046918938	0.12890	0.01761	0.05536	N	AEFBI	.	.	.	-1.13140585890592	0.06091	0.2794855	-1.13125270224756	0.07109	0.3445891	0.0573688780405228	0.15090	0.706298	0.61202	0	0.709663	0.81188	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	4.37	-0.575	0.11146	0.706000	0.25365	-0.607000	0.08241	0.581000	0.30040	0.000000	0.06391	0.000000	0.08366	0.043000	0.14563	0.0:0.4141:0.193:0.3929	3.551	0.07400	994	0.00715	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	583.83	25	chr22	17209656	.	C	T	583.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.067;DP=207;ExcessHet=0;FS=4.546;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.97;ReadPosRankSum=0.816;SOR=0.25	GT:AD:DP:GQ:PL	0/1:19,26:45:99:594,0,483	6	0	1	0
chr22	18925165	18925165	A	G	exonic	LOC102724788;PRODH	.	nonsynonymous SNV	PRODH:NM_001195226:exon4:c.T229C:p.W77R,LOC102724788:NM_001368249:exon4:c.T553C:p.W185R,LOC102724788:NM_001368250:exon4:c.T229C:p.W77R,PRODH:NM_016335:exon4:c.T553C:p.W185R	.	0	170	630	722	0	2074	0.859155	.	.	.	1159081	Proline_dehydrogenase_deficiency|not_provided	MONDO:MONDO:0009400,MedGen:C0268529,OMIM:239500,Orphanet:419|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.076	.	0.6739	0.78095	0.6417	0.8658	0.6056	0.9683	0.4835	0.5769	0.6024	0.6814	0.02359	614	26028	rs386819653	0.0003	0.0047	0.0004	0.0002	0.0023	0.0002	0.0001	0.0006	0.0003	0	0.0023	0	0	0	0	0.0004	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	.	0	0	0	0.503	0.07670	T	0.534	0.09965	T	0.0	0.02946	B	0.0	0.01387	B	0.094139	0.20188	N	0.520350	0.999439	0.21199	P	.	.	.	-0.92	0.75108	T	3.71	0.00075	N	0.033	0.01068	-0.9908	0.32398	T	0.000	0.00011	T	8	1.1503014e-06	0.00003	T	.	.	.	0.124	0.34239	0.323	0.30387	.	.	0.36059814543275515	0.35973	0.483945717353	0.47326	0.248760938644	0.03638	T	0.002583	0.06018	T	-0.601222	0.00143	T	-0.49257	0.23121	T	0.00184463573786778	0.00019	T	0.00685721	0.00048	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00015	B	.;.;.;.;.	.;.;.;.;.	0.485323	0.08545	5.311	0.22177376406136032	0.00880	0.05952	0.11910	N	AEFDBI	0.024100	0.01439	N	-0.980425259653166	0.09021	0.425321	-0.911628502467974	0.11819	0.6044718	0.999452624102034	0.39788	0.722319	0.85440	0	0.627178	0.54094	0	0.698795	0.65105	0	0.613276	0.41899	0	.	.	5.03	2.88	0.32617	3.825000	0.55430	1.457000	0.26651	-2.966000	0.00148	0.770000	0.29357	0.835000	0.27248	0.022000	0.11911	0.1618:0.0:0.6925:0.1458	6.438	0.21037	929	0.16858	.;.;.;.;.	.	.	.	.	rs4819756	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	1	0	0.686304	0.752525	0.689373	0.602339	0.700000	0.612069	0.704268	0.655303	0.75	15434.7	140	chr22	18925165	.	A	G	15434.7	.	AC=9;AF=0.75;AN=12;BaseQRankSum=-0.473;DP=843;ExcessHet=1.383;FS=0;MLEAC=10;MLEAF=0.833;MQ=60;MQRankSum=0;QD=18.92;ReadPosRankSum=-0.984;SOR=0.686	GT:AD:DP:GQ:PL	0/1:82,67:149:99:1495,0,1942	0	3	3	1
chr22	21939549	21939551	TCC	-	exonic	PPM1F	.	nonframeshift deletion	PPM1F:NM_014634:exon3:c.336_338del:p.E113del	.	398	1089	34	1	0	36	0.0162602	.	.	.	2090960	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.0058	0.00399361	0.0070	0.0009	0.0049	0	0.0032	0.0079	0	0.0121	0.0029968	78	26028	rs551955938	0.0046	0.0047	0.0044	0.0049	0.0111	0.0045	0.0045	0.0095	0.0093	0.0006	0.0028	0.0043	0	0.0013	0.0111	0.0047	0.0040	0.0101	0.0036	0.0036	0.0036	0.0035	0.0083	0.0033	0.0032	0.0063	0.0055	0.0008	0.0154	0.0031	0.0058	0	0.0008	0	0.0054	0.0052	0.0083	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009063	0.005051	0.004076	0.014620	0.000000	0.017241	0.006098	0.015152	0.07143	2205.4	35	chr22	21939548	.	TTCC	T	2205.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.183;DP=277;ExcessHet=0;FS=1.664;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=22.5;ReadPosRankSum=1.7;SOR=0.525	GT:AD:DP:GQ:PL	0/1:42,56:98:99:2216,0,1568	6	0	1	0
chr22	23311788	23311788	-	CCGG	exonic	BCR	.	frameshift insertion	BCR:NM_021574:exon18:c.3142_3143insCCGG:p.V1050Rfs*17,BCR:NM_004327:exon19:c.3274_3275insCCGG:p.V1094Rfs*17	Leukemia, acute lymphocytic, somatic;Leukemia, chronic myeloid, somatic	25	583	905	9	0	923	0.441838	.	.	.	1196252	Chronic_myelogenous_leukemia,_BCR-ABL1_positive|not_provided	Human_Phenotype_Ontology:HP:0005506,Human_Phenotype_Ontology:HP:0005544,MONDO:MONDO:0011996,MeSH:D015464,MedGen:C0279543,OMIM:608232,Orphanet:521|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012679	33	26028	rs372013175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	3049.25	65	chr22	23311788	.	T	TCCGG	3049.25	.	AC=6;AF=0.429;AN=14;BaseQRankSum=1.91;DP=565;ExcessHet=8.2628;FS=21.365;MLEAC=6;MLEAF=0.429;MQ=55.55;MQRankSum=-7.119;QD=5.72;ReadPosRankSum=1.15;SOR=1.923	GT:AD:DP:GQ:PL	0/1:77,13:90:99:314,0,3174	1	0	6	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	.	.	.	.	.	.	.	.	0.2857	724.04	81	chr22	23311830	.	G	A	724.04	.	AC=4;AF=0.286;AN=14;BaseQRankSum=4.03;DP=501;ExcessHet=2.5225;FS=34.125;MLEAC=4;MLEAF=0.286;MQ=57.74;MQRankSum=-9.243;QD=2.4;ReadPosRankSum=-2.988;SOR=3.372	GT:AD:DP:GQ:PL	0/1:79,11:90:99:101,0,1845	3	0	4	0
chr22	28745874	28745874	A	G	exonic	HSCB	.	nonsynonymous SNV	HSCB:NM_172002:exon4:c.A434G:p.H145R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.0023889506969	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1185839120	6.859e-07	6.84e-07	0	1.379e-06	2.282e-05	0	0	.	.	0	2.282e-05	0	0	0	0	0	0	0	6.569e-06	6.567e-06	1.284e-05	0	2.411e-05	0	0	.	.	2.411e-05	0	0	0	0	0	0	0	0	0	0.602	0.05601	T	0.772	0.04446	T	0.001	0.07471	B	0.0	0.01387	B	0.628410	0.10710	N	0.850945	0.999998	0.20745	N	0.33	0.10399	N	1.02	0.40749	T	-0.74	0.20791	N	0.038	0.01203	-1.0233	0.22638	T	0.056	0.23753	T	10	0.0706929	0.10319	T	0.002389	0.04673	T	0.077	0.22490	0.437	0.48993	0.252681307341	0.24864	0.18303083282286403	0.18222	0.206442923999	0.23069	0.293750345707	0.09472	T	0.023908	0.18164	T	-0.372293	0.03480	T	-0.772549	0.02685	T	0.0188620593216029	0.00597	T	0.422958	0.11265	T	0.074312255	0.16667	0.087314814	0.20287	0.074312255	0.16666	0.087314814	0.20286	-5.364	0.40572	T	.	.	0.055	0.00405	B	.	.	-0.752714	0.01204	0.059	0.70796587802544098	0.09414	0.01337	0.04602	N	AEFBI	0.045258	0.07382	N	-1.38139513502675	0.02812	0.1247369	-1.36614919012764	0.03619	0.1691839	0.999983785571559	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.79	-6.25	0.01863	-0.602000	0.05776	-2.034000	0.04313	-0.245000	0.07249	0.003000	0.16062	0.000000	0.08366	0.593000	0.31214	0.2782:0.0:0.7218:0.0	17.529	0.87705	441	0.80015	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	1007.44	34	chr22	28745874	.	A	G	1007.44	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-1.331;DP=236;ExcessHet=0.3476;FS=0.751;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=10.18;ReadPosRankSum=-0.839;SOR=0.82	GT:AD:DP:GQ:PL	0/1:25,26:51:99:528,0,570	5	0	2	0
chr22	30020235	30020235	G	C	exonic	MTMR3	.	nonsynonymous SNV	MTMR3:NM_021090:exon17:c.G2576C:p.G859A,MTMR3:NM_153050:exon17:c.G2576C:p.G859A,MTMR3:NM_153051:exon17:c.G2576C:p.G859A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.050443386641	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	2.722e-06	1.375e-06	2.698e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	0.22053	T	0.851	0.06469	T	0.044	0.24078	B	0.024	0.25678	B	0.003156	0.00942	N	2.418420	1	0.08975	N	0.695	0.17993	N	-2.86	0.92457	D	-0.34	0.12661	N	0.128	0.19190	-0.4873	0.69104	T	0.531	0.82593	D	10	0.06396523	0.08414	T	0.050443	0.64245	D	0.146	0.38789	0.15	0.05339	0.538573992546	0.53509	0.2676185031254602	0.26674	0.149234037661	0.16829	0.257211685181	0.04564	T	0.221278	0.58481	T	-0.082312	0.39337	T	-0.356012	0.38513	T	0.0965709764517974	0.11975	T	0.894111	0.63286	D	0.023973223	0.01184	0.038734812	0.03808	0.023973223	0.01184	0.038734812	0.03808	-3.517	0.16671	T	.	.	0.077	0.15115	B	.;.;.;.;.	.;.;.;.;.	0.417853	0.07885	4.588	0.62820395440317489	0.07061	0.17479	0.19855	N	AEFDGBI	0.103489	0.20733	N	-0.95544245443262	0.09571	0.4535478	-0.965430104761316	0.10567	0.5330402	0.999979975378644	0.50053	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.88	0.596	0.16678	0.054000	0.14087	2.231000	0.31532	0.676000	0.76740	0.000000	0.06391	0.992000	0.31684	0.259000	0.23493	0.3506:0.1514:0.3419:0.1561	0.931	0.01251	321	0.86949	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	2140.44	34	chr22	30020235	.	G	C	2140.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.077;DP=345;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.38;ReadPosRankSum=-1.852;SOR=0.737	GT:AD:DP:GQ:PL	0/1:75,85:160:99:2151,0,2032	6	0	1	0
chr22	31134097	31134097	G	A	exonic	INPP5J	.	nonsynonymous SNV	INPP5J:NM_001284287:exon12:c.G1394A:p.R465Q,INPP5J:NM_001002837:exon13:c.G1595A:p.R532Q,INPP5J:NM_001284285:exon13:c.G2699A:p.R900Q,INPP5J:NM_001284286:exon14:c.G2498A:p.R833Q,INPP5J:NM_001284288:exon14:c.G1598A:p.R533Q,INPP5J:NM_001284289:exon15:c.G1598A:p.R533Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	0.20577828887	.	0.000399361	0.0008	0	0	0	0	0.0001	0	0.0019	0.0002587	40	154602	rs372064167	0.0001	0.0002	9.562e-05	0.0002	0.0018	0.0001	0.0001	0.0016	0.0015	3.147e-05	0.0002	0	0	0	0	3.416e-05	0.0003	0.0018	0.0001	0.0001	8.992e-05	0.0001	0.0010	6.506e-05	5.318e-05	0.0004	0.0003	0.0001	0	0	0	0	0	0	7.35e-05	0	0.0010	0.009	0.61437	D	0.28	0.34477	T	0.149	0.27956	B	0.008	0.18783	B	0.016588	0.27938	N	0.250143	1	0.08975	N	1.245	0.31408	L	-4.59	0.98809	D	-0.64	0.18877	N	0.134	0.16586	0.465	0.90047	D	0.845	0.94826	D	10	0.012274295	0.00264	T	0.205778	0.87004	D	0.203	0.48915	.	.	0.804154578487	0.80232	0.25143686285038436	0.25057	0.200669092931	0.22463	0.609858989716	0.54296	T	0.012075	0.14121	T	-0.289038	0.09733	T	-0.201189	0.54533	T	0.0284037510654946	0.01747	T	0.838216	0.53103	T	0.067666836	0.14674	0.0556247	0.09793	0.067666836	0.14673	0.0556247	0.09793	-6.882	0.58645	T	.	.	0.103	0.21840	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.641209	0.51624	23.1	0.99831074739192305	0.91284	0.81775	0.41112	D	AEFDI	0.172012	0.29902	N	-0.241216988608622	0.31456	1.763955	-0.0932456094746002	0.35669	2.066335	0.997462355769343	0.35646	0.660377	0.49826	0	0.588066	0.40923	0	0.696353	0.63694	0	0.586402	0.36253	0	.	.	5.54	3.38	0.37806	2.747000	0.47151	6.586000	0.56011	0.676000	0.76740	0.655000	0.28216	1.000000	0.68203	0.970000	0.54328	0.1429:0.1287:0.7284:0.0	8.160	0.30352	624	0.65661	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1387.49	27	chr22	31134097	.	G	A	1387.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.43;DP=265;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.13;ReadPosRankSum=0.228;SOR=0.627	GT:AD:DP:GQ:PL	0/1:32,54:86:99:1398,0,650	6	0	1	0
chr22	31440717	31440717	C	G	exonic	EIF4ENIF1	.	nonsynonymous SNV	EIF4ENIF1:NM_001164502:exon16:c.G2181C:p.Q727H,EIF4ENIF1:NM_001164501:exon18:c.G2703C:p.Q901H,EIF4ENIF1:NM_019843:exon18:c.G2703C:p.Q901H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	0.00895403050196	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.51853	D	0.379	0.24406	T	0.996	0.68779	D	0.804	0.58350	P	0.000049	0.53742	D	0.170087	0.990226	0.41113	D	1.545	0.39105	L	.	.	.	-1.96	0.50666	N	0.47	0.50598	-0.8159	0.54189	T	0.179	0.52473	T	9	0.23797363	0.40909	T	0.008954	0.23583	T	0.145	0.38592	0.124	0.03018	0.360112713275	0.35619	0.6317114892263826	0.63105	0.135090078654	0.15230	0.71043586731	0.68656	T	0.271077	0.64338	T	-0.052383	0.44085	T	-0.313021	0.43334	T	0.824620842933655	0.48118	D	0.817618	0.47476	T	0.16409469	0.36594	0.13078603	0.31418	0.16409469	0.36593	0.13078603	0.31417	-7.197	0.56408	T	.	.	0.197	0.46859	B	.;.;.;.	.;.;.;.	2.841274	0.37485	20.5	0.99448086615906761	0.65122	0.71369	0.34983	D	AEFGBCI	0.187626	0.31492	N	0.0800753109227662	0.45534	2.808313	0.125676690970636	0.45867	2.842314	0.444027944731644	0.20478	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	5.89	2.55	0.29757	-0.183000	0.09707	1.717000	0.28234	0.599000	0.40250	0.817000	0.29947	1.000000	0.68203	0.999000	0.91618	0.2674:0.5892:0.0:0.1435	5.859	0.17986	496	0.76301	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1467.45	34	chr22	31440717	.	C	G	1467.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.293;DP=311;ExcessHet=0;FS=0.671;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.03;ReadPosRankSum=-1.099;SOR=0.584	GT:AD:DP:GQ:PL	0/1:73,60:133:99:1478,0,1985	6	0	1	0
chr22	31443026	31443026	C	A	exonic	EIF4ENIF1	.	nonsynonymous SNV	EIF4ENIF1:NM_001164502:exon14:c.G1620T:p.E540D,EIF4ENIF1:NM_001164501:exon16:c.G2142T:p.E714D,EIF4ENIF1:NM_019843:exon16:c.G2142T:p.E714D	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.214	0.00159775085475	.	.	0.0002	0	0	0	0	0	0	0.0013	0.0001358	21	154602	rs753462432	4.994e-05	4.994e-05	2.178e-05	7.838e-05	0.0008	4.059e-05	3.734e-05	0.0006	0.0006	0	0	0	0	0	0	8.993e-07	0.0001	0.0008	1.314e-05	1.313e-05	2.57e-05	0	0.0004	2.18e-06	8.2e-07	7.287e-05	3.028e-05	0	0	0	0	0	0	0	0	0	0.0004	0.612	0.08188	T	1.0	0.01155	T	0.015	0.24734	B	0.01	0.18489	B	0.000000	0.84330	D	0.046853	0.993471	0.41951	D	0.59	0.15444	N	.	.	.	0.62	0.04091	N	0.115	0.10626	-1.0686	0.09723	T	0.082	0.32266	T	9	0.01488629	0.00313	T	0.001598	0.02574	T	0.214	0.50650	0.212	0.13066	0.189391138174	0.18552	0.07636809787834355	0.07572	0.584731077447	0.54139	0.447757363319	0.31637	T	0.094977	0.39526	T	-0.499769	0.00573	T	-0.551258	0.17205	T	0.0618180138145308	0.07453	T	0.915408	0.69775	D	0.099584684	0.23503	0.07910807	0.17778	0.099584684	0.23503	0.07910807	0.17778	-4.79	0.34475	T	.	.	0.092	0.13550	B	.;.;.;.	.;.;.;.	1.733944	0.22065	15.47	0.98165476595324963	0.38814	0.72626	0.35542	D	AEFDBCI	0.108541	0.21589	N	-0.32583230812331	0.28171	1.551575	-0.129530088549592	0.34206	1.964993	0.677947489057443	0.22446	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.77	3.65	0.40985	0.453000	0.21523	0.328000	0.17254	0.599000	0.40250	0.997000	0.40164	0.990000	0.31317	0.998000	0.85391	0.1342:0.7226:0.0:0.1432	7.675	0.27645	429	0.80881	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	918.46	36	chr22	31443026	.	C	A	918.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.077;DP=256;ExcessHet=0;FS=2.009;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.94;ReadPosRankSum=-0.387;SOR=1.075	GT:AD:DP:GQ:PL	0/1:32,39:71:99:929,0,728	6	0	1	0
chr22	32513774	32513774	C	G	exonic	SYN3	.	nonsynonymous SNV	SYN3:NM_001135774:exon14:c.G1658C:p.R553P,SYN3:NM_001369907:exon14:c.G1661C:p.R554P,SYN3:NM_001369908:exon14:c.G1661C:p.R554P,SYN3:NM_001369909:exon14:c.G1658C:p.R553P,SYN3:NM_001369910:exon14:c.G1658C:p.R553P,SYN3:NM_003490:exon14:c.G1661C:p.R554P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.0466886162577	0.0002	0.000399361	0.0001	0	0.0002	0	0	0.0002	0.0011	0	0.0001488	23	154602	rs148792587	0.0002	0.0002	0.0003	0.0002	0.0024	0.0002	0.0002	0.0015	0.0012	2.987e-05	0.0002	0	0	0	0.0024	0.0003	0.0002	0	0.0002	0.0002	0.0002	0.0002	0.0011	0.0001	0.0001	0.0007	0.0006	4.813e-05	0	0.0011	0	0	0	0	0.0001	0.0009	0	0.002	0.72154	D	0.054	0.53426	T	0.8	0.44988	P	0.476	0.46961	P	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	1.585	0.39878	L	0.95	0.43279	T	-1.78	0.42001	N	0.451	0.48872	-0.8829	0.49529	T	0.148	0.47469	T	10	0.08215675	0.13530	T	0.046689	0.62573	D	0.158	0.41098	.	.	0.28494636882	0.28116	0.40205090088317225	0.40121	0.915908359792	0.71240	0.360167086124	0.19410	T	0.286641	0.65943	T	-0.121596	0.32861	T	-0.133005	0.60719	T	0.191374108195305	0.19925	T	0.737626	0.36288	T	0.51283574	0.67845	0.5857849	0.75978	0.51283574	0.67846	0.5857849	0.75979	-0.664	0.00694	T	.	.	0.117	0.35890	B	.;.	.;.	4.255745	0.64637	24.7	0.99634064963183711	0.76203	0.93873	0.59438	D	AEFBI	0.828468	0.74755	D	0.244864137220757	0.53385	3.507629	0.239438223703878	0.52051	3.382648	0.999946599906621	0.47345	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.41	4.4	0.52402	2.520000	0.45215	3.201000	0.36751	0.599000	0.40250	0.995000	0.38783	0.998000	0.33993	0.914000	0.44937	0.0:0.9281:0.0:0.0719	14.231	0.65434	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	1	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.005848	0.000000	0.000000	0.000000	0.000000	0.1429	2222.44	34	chr22	32513774	.	C	G	2222.44	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.95;DP=378;ExcessHet=0.3476;FS=0.489;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=9.88;ReadPosRankSum=1.5;SOR=0.737	GT:AD:DP:GQ:PL	0/1:62,38:100:99:864,0,1431	5	0	2	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	.	.	.	.	.	.	.	.	0.1429	630.24	177	chr22	36227655	.	C	A	630.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-5.44;DP=960;ExcessHet=0.3476;FS=113.24;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=1.02;ReadPosRankSum=0.161;SOR=9.967	GT:AD:DP:GQ:PL	0/1:210,64:274:99:337,0,5199	5	0	2	0
chr22	41909797	41909797	T	C	exonic	SHISA8	.	nonsynonymous SNV	SHISA8:NM_001207020:exon4:c.A1162G:p.R388G,SHISA8:NM_001353438:exon4:c.A1447G:p.R483G,SHISA8:NM_001353439:exon4:c.A1339G:p.R447G	.	431	1053	37	1	0	39	0.0181818	.	.	.	2819613	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0052	0	0	0	.	0.0168	0	0.0015	0.0004528	70	154602	rs756893043	0.0011	0.0011	0.0011	0.0012	0.0196	0.0011	0.0011	0.0166	0.0155	0.0012	0.0010	0.0166	0	0	0.0196	0.0007	0.0026	0.0011	0.0012	0.0012	0.0012	0.0012	0.0019	0.0010	0.0010	0.0010	0.0008	0.0003	0.0033	0.0010	0.0158	0	0	0.0204	0.0011	0.0028	0.0019	.	.	.	0.424	0.13953	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.163	0.17140	.	.	.	.	.	.	.	0.008136481	0.00185	T	.	.	.	.	.	.	.	0.631991100555	0.62898	0.1294892711660731	0.12873	.	.	0.441900193691	0.30837	T	.	.	.	-0.308221	0.07906	T	-0.271863	0.47630	T	.	.	.	0.50265	0.15781	T	0.33455953	0.55842	0.341038	0.59848	0.33455953	0.55842	0.341038	0.59848	-4.31	0.28316	T	.	.	0.108	0.20313	B	.	.	2.696450	0.35208	19.84	0.64420621177009363	0.07489	0.14849	0.18617	N	AEFDBCIJ	.	.	.	.	.	.	.	.	.	0.999979861925652	0.50053	0.256391	0.04301	0	0.274575	0.05135	0	0.183864	0.04481	0	0.109499	0.03221	0	0.145135	0.27050	3.8	2.63	0.30420	1.037000	0.29850	1.412000	0.26289	0.659000	0.54702	0.775000	0.29414	0.999000	0.35428	0.889000	0.42754	0.2262:0.1233:0.0:0.6505	2.706	0.04843	131	0.94738	.	.	.	.	.	.	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	0.003559	0.020000	0.019231	0.017241	0.000000	0.000000	0.008065	0.000000	0.07143	1041.44	34	chr22	41909797	.	T	C	1041.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.213;DP=265;ExcessHet=0;FS=0.88;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.89;ReadPosRankSum=-0.627;SOR=0.633	GT:AD:DP:GQ:PL	0/1:32,43:75:99:1052,0,772	6	0	1	0
chr22	42086248	42086248	G	A	exonic	NDUFA6	.	nonsynonymous SNV	NDUFA6:NM_002490:exon3:c.C322T:p.H108Y	.	414	1070	37	1	0	39	0.0178981	.	.	.	215603	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.182	0.00650887435971	0.0036	0.00339457	0.0028	0.0074	0.0017	0	0	0.0034	0.0077	0.0008	0.0026261	406	154602	rs113437301	0.0017	0.0017	0.0017	0.0018	0.0199	0.0017	0.0016	0.0170	0.0159	0.0079	0.0021	0.0307	0	0	0.0199	0.0008	0.0046	0.0011	0.0037	0.0037	0.0038	0.0037	0.0073	0.0034	0.0033	0.0067	0.0064	0.0073	0.0033	0.0037	0.0288	0	0	0.0238	0.0011	0.0052	0.0019	.	.	.	0.115	0.36630	T	.	.	.	.	.	.	0.000001	0.62929	D	0.131299	0.999274	0.46519	D	.	.	.	.	.	.	.	.	.	0.179	0.23125	-0.7386	0.58524	T	0.220	0.58253	T	10	0.007718563	0.00175	T	0.006509	0.17157	T	0.182	0.45420	.	.	0.215869574891	0.21205	0.7120836117721743	0.71150	0.240868912627	0.26625	0.622457921505	0.56076	T	0.035167	0.23613	T	-0.316477	0.07190	T	-0.223508	0.52398	T	0.0155966509877632	0.00356	T	.	.	.	0.4964389	0.66885	0.66959906	0.80617	0.7058119	0.78377	0.63814104	0.78868	-6.719	0.51954	T	.	.	0.149	0.38263	B	.;.;.	.;.;.	3.598522	0.50813	23.0	0.99581292421025602	0.73040	0.93725	0.59013	D	AEFDBCIJ	0.748094	0.68995	D	0.270511061285913	0.54660	3.631111	0.44168999425464	0.64186	4.667936	0.999999466425253	0.74766	0.741895	0.98168	0	0.702456	0.74545	0	0.702456	0.68683	0	0.725737	0.93299	0	.	.	6.17	6.17	0.99707	5.603000	0.67304	9.943000	0.82671	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	20.474	0.99171	108	0.95573	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.017120	0.015152	0.023098	0.040936	0.000000	0.008621	0.012195	0.003788	0.07143	1203.63	33	chr22	42086248	.	G	A	1203.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.24;DP=285;ExcessHet=0;FS=1.604;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.36;ReadPosRankSum=-0.623;SOR=0.516	GT:AD:DP:GQ:PL	0/1:55,51:106:99:1214,0,1261	6	0	1	0
chr22	42128812	42128812	A	G	exonic	CYP2D6;CYP2D7	.	nonsynonymous SNV	CYP2D6:NM_001025161:exon3:c.T485C:p.L162P,CYP2D6:NM_000106:exon4:c.T638C:p.L213P	.	1	1317	204	0	0	204	0.0718816	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.557	0.0602619546016	.	.	0.0034	0.0012	0.0015	0.0014	0.0018	0.0047	0.0040	0.0021	0.0023544	364	154602	rs199535154	0.0003	0.0094	0.0003	0.0003	0.0022	0.0002	0.0002	0.0013	0.0011	0.0015	0.0003	0.0004	0.0006	0.0006	0.0022	0.0002	0.0003	0.0003	0.0001	0.0016	6.523e-05	0.0002	0.0004	7.691e-05	6.376e-05	0.0001	8.654e-05	0.0002	0	0	0	0.0004	0	0	0.0001	0	0	0.016	0.72154	D	0.004	0.74150	D	.	.	.	.	.	.	0.079050	0.21007	N	0.393637	0.984414	0.40142	D	3.135	0.88152	M	-1.43	0.80730	T	-5.73	0.87611	D	0.817	0.81261	0.414	0.89311	D	0.663	0.88295	D	10	0.12101528	0.22933	T	0.060262	0.67943	D	0.557	0.81774	.	.	0.906819982349	0.90588	0.8191287958858098	0.81869	0.67802315983	0.59861	0.312496066093	0.12283	T	0.044594	0.40051	T	0.029515	0.55659	T	0.219179	0.84132	D	0.250423282384872	0.22892	T	0.739826	0.35853	T	0.5728783	0.71218	0.38634163	0.63529	0.5728783	0.71219	0.38634163	0.63529	-9.555	0.71201	D	.	.	0.479	0.69738	A	.;.;.;.;.	.;.;.;.;.	3.184167	0.43231	21.7	0.99267575361889293	0.57423	0.11286	0.16533	N	AEFDBI	0.398871	0.47438	N	0.0379738385441093	0.43589	2.64896	-0.230169009795182	0.30461	1.715271	5.06273264100705E-4	0.07176	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.604944	0.38103	0	.	.	3.52	3.52	0.39415	2.920000	0.48541	1.949000	0.29874	-0.094000	0.16080	0.013000	0.18845	0.000000	0.08366	0.000000	0.00833	1.0:0.0:0.0:0.0	8.696	0.33455	106	0.95650	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.018182	0.005747	0.016484	0.050420	0.000000	0.043860	0.003546	0.004065	0.3571	2310.13	116	chr22	42128812	.	A	G	2310.13	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-0.178;DP=771;ExcessHet=4.7409;FS=10.746;MLEAC=5;MLEAF=0.357;MQ=51.48;MQRankSum=-5.697;QD=3.19;ReadPosRankSum=-4.081;SOR=1.758	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:110,15:125:99:0|1:42128812_A_G:299,0,4546:42128812	2	0	5	0
chr22	42141910	42141910	T	G	exonic	CYP2D7	.	unknown	UNKNOWN	.	1	1466	53	2	0	57	0.0190699	.	.	.	2819621	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0058	0.0063	0.0031	0.0011	0.0002	0.0045	0.0087	0.0159	0.0037322	577	154602	rs199515619	0.0022	0.0024	0.0022	0.0023	0.0202	0.0022	0.0022	0.0172	0.0161	0.0071	0.0027	0.0317	0.0068	0.0004	0.0202	0.0011	0.0046	0.0028	0.0036	0.0037	0.0035	0.0037	0.0059	0.0034	0.0033	0.0053	0.0050	0.0059	0.0033	0.0039	0.0306	0.0016	0.0005	0.0238	0.0013	0.0043	0.0040	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.07143	1157.45	56	chr22	42141910	.	T	G	1157.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.895;DP=517;ExcessHet=0;FS=1.507;MLEAC=1;MLEAF=0.071;MQ=55.77;MQRankSum=-7.619;QD=10.06;ReadPosRankSum=-1.341;SOR=0.509	GT:AD:DP:GQ:PL	0/1:63,52:115:99:1168,0,1597	6	0	1	0
chr22	43063848	43063848	C	T	exonic	TTLL1	.	nonsynonymous SNV	TTLL1:NM_012263:exon7:c.G712A:p.V238I	.	430	1091	1	0	0	1	0.000458085	.	.	.	2675488	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.208	0.0107362476435	7.7e-05	.	9.884e-05	0	0.0003	0	0	0.0001	0	6.056e-05	8.41e-05	13	154602	rs371253934	8.278e-05	8.277e-05	7.351e-05	9.214e-05	0.0004	7.069e-05	6.619e-05	0.0002	0.0002	0	0.0004	0	0	0	0.0003	8.004e-05	0.0002	4.638e-05	0.0001	0.0001	0.0002	5.373e-05	0.0003	7.088e-05	5.745e-05	8.881e-05	5.995e-05	2.406e-05	0	0.0003	0	0	0	0.0034	0.0001	0.0005	0	0.424	0.15047	T	0.422	0.14034	T	0.195	0.29512	B	0.079	0.28749	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.45	0.12780	N	3.33	0.06138	T	-0.37	0.13226	N	0.311	0.36989	-0.9278	0.44458	T	0.017	0.07045	T	10	0.2563215	0.43035	T	0.010736	0.27620	T	0.208	0.49714	.	.	0.328486982098	0.32448	0.4681414140918941	0.46733	0.458185105875	0.45435	0.854708373547	0.90323	D	0.085637	0.37547	T	-0.318831	0.06994	T	-0.389778	0.34577	T	0.0423076051019963	0.04110	T	0.960304	0.85063	D	0.10018793	0.23654	0.10727005	0.25821	0.10018793	0.23654	0.10727005	0.25820	-3.455	0.33537	T	.	.	0.137	0.40810	B	.;.	.;.	3.330561	0.45847	22.2	0.99616649603842267	0.75172	0.97213	0.73358	D	AEFBI	0.612588	0.60060	D	0.055992906842106	0.44418	2.716294	0.251102864237304	0.52711	3.444216	0.999999999858903	0.74766	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.98	5.98	0.97147	5.812000	0.68868	4.775000	0.44799	0.545000	0.25583	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.617	0.91262	744	0.52588	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1278.44	37	chr22	43063848	.	C	T	1278.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.69;DP=307;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.29;ReadPosRankSum=-0.947;SOR=0.771	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:52,52:104:99:1|0:43063840_G_A:1289,0,1994:43063840	6	0	1	0
chr22	43537405	43537406	CT	-	exonic	EFCAB6	.	frameshift deletion	EFCAB6:NM_198856:exon27:c.3563_3564del:p.Q1188Rfs*43,EFCAB6:NM_022785:exon29:c.4019_4020del:p.Q1340Rfs*43	.	434	1082	6	0	0	6	0.00276498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0059	0.00559105	0.0070	0.0010	0.0026	0.0107	0.0136	0.0091	0.0088	0.0008	0.001191	31	26028	rs3833393	0.0060	0.0060	0.0058	0.0062	0.0101	0.0059	0.0059	0.0093	0.0090	0.0012	0.0033	0.0042	0.0101	0.0151	0.0050	0.0061	0.0057	0.0011	0.0067	0.0067	0.0064	0.0070	0.0147	0.0064	0.0062	0.0121	0.0111	0.0013	0.0110	0.0041	0.0055	0.0147	0.0151	0.0170	0.0090	0.0061	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007056	0.015152	0.009511	0.005848	0.000000	0.000000	0.003049	0.003788	0.07143	1559.5	33	chr22	43537404	.	CCT	C	1559.5	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.506;DP=274;ExcessHet=0;FS=10.427;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.72;ReadPosRankSum=1.28;SOR=1.256	GT:AD:DP:GQ:PL	0/1:47,41:88:99:1570,0,1850	6	0	1	0
chr22	43889909	43889909	T	C	exonic	PNPLA5	.	nonsynonymous SNV	PNPLA5:NM_001371410:exon3:c.A5G:p.Q2R	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.883e-07	3.42e-06	1.368e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	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	.	.	.	.	.	.	.	.	0.07143	484.63	40	chr22	43889909	.	T	C	484.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.123;DP=254;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.5;ReadPosRankSum=-1.473;SOR=0.656	GT:AD:DP:GQ:PL	0/1:27,24:51:99:495,0,593	6	0	1	0
chr22	46691754	46691754	C	T	exonic	CERK	.	nonsynonymous SNV	CERK:NM_022766:exon11:c.G1150A:p.V384I	.	419	1102	1	0	0	1	0.000453515	.	.	.	2317669	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.016	0.00434156350138	0.0011	0.000399361	0.0006	0.0006	0.0005	0.0001	0	0.0008	0	6.164e-05	0.0005369	83	154602	rs143397270	0.0009	0.0009	0.0009	0.0009	0.0011	0.0009	0.0009	0.0011	0.0011	0.0002	0.0005	0	2.523e-05	0.0002	0.0009	0.0011	0.0008	0.0001	0.0006	0.0006	0.0006	0.0007	0.0011	0.0005	0.0005	0.0008	0.0007	0.0004	0	0.0011	0	0	0	0	0.0010	0.0009	0	0.578	0.06030	T	0.732	0.05128	T	0.007	0.14184	B	0.004	0.10090	B	0.010598	0.29863	N	0.363453	1	0.08975	N	-0.075	0.04822	N	2.6	0.13204	T	-0.07	0.08033	N	0.163	0.17140	-0.9311	0.43977	T	0.009	0.03448	T	10	0.019758672	0.00445	T	0.004342	0.10561	T	0.016	0.02506	.	.	0.124217242631	0.12060	0.1774132973604535	0.17660	0.15802830633	0.17849	0.348556160927	0.17710	T	0.069069	0.33616	T	-0.631322	0.00094	T	-0.730068	0.04324	T	0.00323738195099292	0.00034	T	0.772323	0.40326	T	0.010033358	0.00005	0.020745588	0.00153	0.010033358	0.00005	0.020745588	0.00153	-2.86	0.08749	T	.	.	0.063	0.01387	B	.	.	-0.322441	0.02520	0.300	0.88327676107550801	0.17890	0.02051	0.06129	N	AEFBI	0.031068	0.03248	N	-1.20492935320905	0.04926	0.2234484	-1.13420535240909	0.07055	0.3417576	0.00271553808527993	0.09654	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.61	-2.17	0.06663	0.285000	0.18642	-1.924000	0.04488	0.599000	0.40250	0.054000	0.21560	0.000000	0.08366	0.564000	0.30507	0.0:0.3942:0.0:0.6058	9.693	0.39304	693	0.58582	.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.07143	1445.44	33	chr22	46691754	.	C	T	1445.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.02;DP=332;ExcessHet=0;FS=2.058;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.83;ReadPosRankSum=-0.142;SOR=0.868	GT:AD:DP:GQ:PL	0/1:82,65:147:99:1456,0,1864	6	0	1	0
chr22	50050133	50050133	C	T	exonic	TTLL8	.	nonsynonymous SNV	TTLL8:NM_001350317:exon4:c.G274A:p.E92K	.	407	1094	21	0	0	21	0.00950656	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.0053166610992	0.0017	0.00219649	0.0021	0.0005	0.0038	0.0002	0.0002	0.0024	0.0025	0.0028	0.0020698	320	154602	rs184510799	0.0023	0.0019	0.0023	0.0024	0.0094	0.0023	0.0022	0.0071	0.0064	0.0010	0.0028	0.0002	5.952e-05	6.158e-05	0.0094	0.0024	0.0027	0.0033	0.0016	0.0016	0.0016	0.0016	0.0035	0.0014	0.0014	0.0022	0.0021	0.0003	0.0011	0.0020	0.0003	0.0002	0	0.0102	0.0025	0.0024	0.0035	0.64	0.05668	T	0.513	0.10714	T	.	.	.	.	.	.	0.115219	0.02676	N	1.949630	1	0.08975	N	.	.	.	3.16	0.07711	T	-1.43	0.35194	N	0.226	0.25377	-0.9920	0.32089	T	0.010	0.03856	T	10	0.0077620745	0.00176	T	0.005317	0.13618	T	0.095	0.27398	.	.	0.0611884634855	0.05136	.	.	.	.	.	.	.	.	.	.	-0.567709	0.00228	T	-0.592242	0.13472	T	0.00724849610761397	0.00083	T	0.526647	0.17353	T	.	.	.	.	.	.	.	.	-3.358	0.14497	T	.	.	0.077	0.06525	B	.;.	.;.	1.006753	0.13856	10.41	0.9511830828078609	0.26213	0.10549	0.16025	N	AEFBI	0.061403	0.11738	N	-0.824989917016853	0.12674	0.6192647	-0.91997745172926	0.11623	0.5932751	6.73219018838475E-4	0.07599	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	4.85	1.29	0.20717	1.852000	0.38988	-0.686000	0.07862	-0.239000	0.07538	0.006000	0.17386	0.000000	0.08366	0.001000	0.02609	0.0:0.4526:0.3595:0.1879	5.214	0.14656	946	0.12043	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	902.49	34	chr22	50050133	.	C	T	902.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.1;DP=258;ExcessHet=0;FS=1.921;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.36;ReadPosRankSum=0.957;SOR=0.954	GT:AD:DP:GQ:PL	0/1:34,39:73:99:913,0,699	6	0	1	0
chr22	50217807	50217807	G	A	exonic	TUBGCP6	.	nonsynonymous SNV	TUBGCP6:NM_020461:exon25:c.C5389T:p.R1797C	Microcephaly and chorioretinopathy, autosomal recessive, 1, Autosomal recessive	0	1517	5	0	0	5	0.00164528	.	.	.	360615	not_provided|Microcephaly_and_chorioretinopathy_1	MedGen:C3661900|MONDO:MONDO:0009624,MedGen:C3278481,OMIM:251270	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.271	0.180165854654	0.0002	0.000399361	0.0002	9.903e-05	0.0002	0.0001	0	0.0002	0	0.0002	0.0001423	22	154602	rs138609686	0.0001	0.0001	0.0001	0.0001	0.0019	9.604e-05	9.084e-05	0.0011	0.0008	8.961e-05	6.711e-05	0	0.0003	0	0.0019	0.0001	0.0001	0.0001	5.252e-05	5.249e-05	3.854e-05	6.714e-05	0.0002	2.555e-05	1.829e-05	1.972e-05	1.124e-05	4.813e-05	0	0	0	0	0	0	5.88e-05	0.0005	0.0002	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.047666	0.999586	0.81001	D	1.5	0.37844	L	2.82	0.25182	T	-5.34	0.90294	D	0.582	0.60325	-0.9741	0.36323	T	0.120	0.41929	T	10	0.21995252	0.38679	T	0.180166	0.85472	D	0.271	0.58633	.	.	0.548822617668	0.54539	0.741108490605662	0.74056	0.618735702882	0.56256	0.89614212513	0.96000	D	0.298183	0.67076	T	-0.177714	0.24075	T	-0.233371	0.51444	T	0.334991619261504	0.26424	T	0.958804	0.84482	D	0.55798984	0.70398	0.4916127	0.70591	0.55798984	0.70399	0.4916127	0.70591	-5.774	0.44347	T	.	.	0.767	0.75793	P	.;.	.;.	5.234035	0.87859	29.4	0.99886862812237698	0.96204	0.94106	0.60130	D	AEFDBCI	0.639940	0.61781	D	0.396783182743833	0.61248	4.323305	0.326732194398771	0.57117	3.876312	0.996065908718159	0.34501	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	5.02	2.74	0.31352	3.721000	0.54668	6.209000	0.54989	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.4474:0.5526	11.797	0.51380	684	0.59539	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.07143	839.63	34	chr22	50217807	.	G	A	839.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.626;DP=249;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.76;ReadPosRankSum=0.34;SOR=0.803	GT:AD:DP:GQ:PL	0/1:28,33:61:99:850,0,662	6	0	1	0
chr22	50456593	50456593	C	T	exonic	SBF1	.	nonsynonymous SNV	SBF1:NM_001365819:exon29:c.G3910A:p.A1304T,SBF1:NM_002972:exon30:c.G3985A:p.A1329T	Charcot-Marie-Tooth disease, type 4B3, Autosomal recessive	423	1096	3	0	0	3	0.00136674	.	.	.	1152941	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.199	0.051057542975	8.2e-05	.	0.0002	0.0004	0	0	0	0.0004	0	0	6.5e-06	1	154602	rs372950672	0.0001	0.0001	0.0001	0.0001	0.0024	8.894e-05	8.343e-05	0.0014	0.0011	0.0006	2.958e-05	0	0	0	0.0024	9.277e-05	0.0002	0	0.0002	0.0002	0.0001	0.0002	0.0003	0.0001	8.722e-05	0.0001	0.0001	0.0003	0	0.0002	0	0	0	0	0.0001	0.0005	0	0.598	0.05703	T	0.754	0.06621	T	.	.	.	.	.	.	0.291139	0.03895	N	1.524220	1	0.08975	N	.	.	.	-2.08	0.86146	D	-0.06	0.12099	N	0.048	0.01999	-0.7383	0.58540	T	0.270	0.64182	T	10	0.021478742	0.00515	T	0.051058	0.64501	D	0.199	0.48268	.	.	0.379214838424	0.37538	0.26583968483280024	0.26496	.	.	0.459273993969	0.33210	T	.	.	.	-0.40789	0.02053	T	-0.549382	0.17385	T	0.00184665833842765	0.00019	T	0.039696	0.00319	T	0.013443791	0.00059	0.031373706	0.01718	0.013443791	0.00059	0.031373706	0.01717	-3.823	0.21149	T	0.03314729367692009	0.00137	0.063	0.01762	B	.;.	.;.	0.427745	0.07980	4.696	0.66080541308297591	0.07955	0.07039	0.13065	N	AEFBCI	0.044220	0.07088	N	-2.00165252193559	0.00210	0.008993958	-1.95623760954631	0.00377	0.01668176	0.218223640347331	0.18324	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.38	-2.83	0.05425	-0.085000	0.11215	-1.958000	0.04434	-1.194000	0.01370	0.000000	0.06391	0.000000	0.08366	0.026000	0.12556	0.0:0.2911:0.4797:0.2292	7.717	0.27878	819	0.41190	.;Myotubularin-like phosphatase domain|Myotubularin-like phosphatase 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	0.001535	0.000000	0.002725	0.000000	0.000000	0.008621	0.000000	0.003846	0.07143	294.44	34	chr22	50456593	.	C	T	294.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.821;DP=236;ExcessHet=0;FS=2.602;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.01;ReadPosRankSum=0.352;SOR=1.164	GT:AD:DP:GQ:PL	0/1:33,16:49:99:305,0,728	6	0	1	0
chr22	50720382	50720382	C	T	exonic	SHANK3	.	nonsynonymous SNV	SHANK3:NM_001372044:exon23:c.C2732T:p.T911M	Phelan-McDermid syndrome, Isolated cases	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.278	0.267077317691	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.845e-07	4.515e-05	0	2.033e-06	1.147e-06	0	0	.	.	0	0	0	0	0	0	1.147e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.53426	D	.	.	.	.	.	.	.	.	.	.	0.992485	0.23875	N	.	.	.	.	.	.	.	.	.	0.487	0.52119	-0.3939	0.72219	T	0.470	0.79578	T	9	0.4111868	0.56236	T	0.267077	0.89734	D	0.278	0.59497	.	.	.	.	0.28552743048223433	0.28465	.	.	0.965175390244	0.99954	D	0.187789	0.54149	T	.	.	.	.	.	.	.	.	.	0.922508	0.71813	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.261	0.49586	B	.;.	.;.	5.017672	0.83372	28.0	0.99858681789563808	0.93729	0.97595	0.75784	D	AEFDBI	0.540837	0.55724	D	0.570899631420867	0.71363	5.639556	0.534362450193799	0.70317	5.487465	0.999999639783012	0.74766	0.460665	0.09802	0	0.547309	0.14657	0	0.503968	0.08637	0	0.636168	0.56350	0	.	.	4.56	4.56	0.55644	4.535000	0.60341	5.397000	0.48500	0.440000	0.21072	0.999000	0.42656	1.000000	0.68203	0.907000	0.44265	0.0:1.0:0.0:0.0	14.904	0.70349	608	0.67185	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	345.49	1	chr22	50720382	.	C	T	345.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.235;DP=51;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=20.32;ReadPosRankSum=1.32;SOR=0.368	GT:AD:DP:GQ:PL	0/1:3,14:17:36:355,0,36	6	0	1	0
chrX	7843768	7843768	-	CTGTGT	exonic	VCX	.	nonframeshift insertion	VCX:NM_013452:exon3:c.373_374insCTGTGT:p.S125delinsTVC	.	576	718	155	12	61	240	0.110836	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0014	0.0032	0.0006	0.0011	0.0035	0.0014	0	0	0.000461	12	26028	rs768077574	0.0003	0.0005	0.0003	5.138e-05	0.0004	0.0002	0.0002	0.0002	0.0002	0.0001	0.0004	0.0009	0.0004	0.0008	0	0.0002	0.0004	0.0001	0.0010	0.0057	0.0013	0	0.0023	0.0008	0.0008	0.0007	0.0006	0.0011	0.0028	0.0007	0.0015	0.0020	0.0004	0	0.0010	0	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	245.21	34	chrX	7843768	.	A	ACTGTGT	245.21	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.411;DP=347;ExcessHet=0.3476;FS=15.387;MLEAC=1;MLEAF=0.071;MQ=50.72;MQRankSum=0.006;QD=3.72;ReadPosRankSum=-0.816;SOR=1.897	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:6,4:10:99:.:.:134,0,231:.	6	0	1	0
chrX	8795269	8795286	CTGCTGCTGCTGCGGCTT	-	exonic	FAM9A	.	nonframeshift deletion	FAM9A:NM_001171186:exon7:c.623_640del:p.E208_A213del,FAM9A:NM_174951:exon7:c.623_640del:p.E208_A213del	.	450	1068	2	0	2	4	0.000935454	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0013245	0.0041	0.0060	0.0088	0.0193	0	0.0015	0	0.0049	0.0018305	283	154602	rs774169916	0.0012	0.0012	0.0013	0.0011	0.0070	0.0012	0.0011	0.0062	0.0059	0.0038	0.0029	5.385e-05	0.0070	8.394e-05	0.0033	0.0007	0.0018	0.0035	0.0024	0.0025	0.0026	0.0018	0.0116	0.0021	0.0020	0.0088	0.0078	0.0039	0	0.0041	0	0.0116	0.0004	0.0046	0.0009	0.0027	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	1175.38	35	chrX	8795268	.	GCTGCTGCTGCTGCGGCTT	G	1175.38	.	AC=2;AF=0.143;AN=14;DP=185;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=29.26;SOR=1.863	GT:AD:DP:GQ:PL	1/1:0,28:28:85:1196,85,0	6	1	0	0
chrX	10469688	10469688	G	A	exonic	MID1	.	nonsynonymous SNV	MID1:NM_001193279:exon6:c.C1294T:p.L432F,MID1:NM_001193280:exon6:c.C1180T:p.L394F,MID1:NM_001193278:exon7:c.C1447T:p.L483F	Opitz GBBB syndrome, type I, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.822e-06	1.821e-06	1.361e-06	2.752e-06	1.847e-05	3e-07	1.1e-07	.	.	0	0	0	0	0	0	1.188e-06	0	1.847e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.26306	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.06	0.03175	.	.	.	.	.	.	.	0.049869597	0.04636	T	.	.	.	.	.	.	.	0.228066490088	0.22430	.	.	.	.	.	.	.	0.006829	0.06256	T	-0.218282	0.18229	T	-0.551324	0.17198	T	.	.	.	0.334067	0.07092	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.31708	B	.	.	1.071713	0.14539	11.11	0.85981199067195402	0.16236	0.02091	0.06209	N	AEFBI	.	.	.	.	.	.	.	.	.	0.999612355279754	0.40981	.	.	.	.	.	.	.	.	.	.	.	.	0.283609	0.34178	4.85	0.652	0.16995	0.121000	0.15496	0.832000	0.21958	0.676000	0.76740	0.066000	0.21956	0.096000	0.22607	0.995000	0.73285	0.4727:0.0:0.3766:0.1507	5.068	0.13928	505	0.75648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	1454.59	107	chrX	10469688	.	G	A	1454.59	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-3.944;DP=533;ExcessHet=2.5225;FS=171.116;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=3.13;ReadPosRankSum=0.953;SOR=9.383	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:51,13:64:99:0|1:10469688_G_A:123,0,1569:10469688	3	0	4	0
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	.	.	.	.	.	.	.	.	0.2857	659.6	107	chrX	10469693	.	T	C	659.6	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-4.447;DP=534;ExcessHet=2.5225;FS=147.291;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=1.43;ReadPosRankSum=0.711;SOR=9.19	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:50,14:64:99:0|1:10469688_G_A:133,0,1560:10469688	3	0	4	0
chrX	32565806	32565806	T	C	exonic	DMD	.	nonsynonymous SNV	DMD:NM_000109:exon16:c.A1864G:p.T622A,DMD:NM_004006:exon16:c.A1888G:p.T630A,DMD:NM_004009:exon16:c.A1876G:p.T626A,DMD:NM_004010:exon16:c.A1519G:p.T507A	Becker muscular dystrophy, X-linked recessive;Cardiomyopathy, dilated, 3B, X-linked;Duchenne muscular dystrophy, X-linked recessive	0	1518	1	3	0	7	0.00230036	.	.	YES	198591	Dilated_cardiomyopathy_3B|not_specified|Cardiovascular_phenotype|Duchenne_muscular_dystrophy|Cardiomyopathy|Dystrophin_deficiency|Becker_muscular_dystrophy|not_provided	MONDO:MONDO:0010542,MedGen:C3668940,OMIM:302045,Orphanet:154|MedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0010679,MedGen:C0013264,OMIM:310200,Orphanet:98896|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|.|MONDO:MONDO:0010311,MedGen:C0917713,OMIM:300376,Orphanet:98895|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.039	.	9.5e-05	0.000529801	0.0015	0	0.0001	0	0.0155	0.0012	0.0063	0.0003	0.0013454	208	154602	rs72468692	0.0009	0.0009	0.0009	0.0010	0.0012	0.0009	0.0009	0.0005	0.0005	3.791e-05	0	0	0	0.0116	0.0012	0.0005	0.0010	0.0005	0.0012	0.0013	0.0009	0.0017	0.0006	0.0010	0.0010	0.0005	0.0004	3.241e-05	0	0	0	0	0.0156	0	0.0006	0.0013	0	1.0	0.07497	T	0.522	0.10429	T	0.0	0.02946	B	0.0	0.01387	B	0.616160	0.10821	N	0.727763	1	0.08975	N	.	.	.	0.18	0.71779	T	-0.49	0.15578	N	0.032	0.01203	-0.9880	0.33102	T	0.063	0.26029	T	10	0.0073586106	0.00167	T	.	.	.	0.039	0.10176	.	.	0.298199939746	0.29431	0.05511594894284313	0.05452	0.0157027306126	0.01500	0.319444060326	0.13337	T	0.237201	0.61507	T	-0.689657	0.00042	T	-0.788048	0.02219	T	0.00453589918880317	0.00048	T	0.561944	0.19809	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.01645	B	.;.;.;.;.	.;.;.;.;.	1.226184	0.16205	12.39	0.78548438539071197	0.12348	0.49643	0.28480	N	AEFGBI	.	.	.	.	.	.	.	.	.	0.0234486860196543	0.13508	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.28	-1.42	0.08446	0.501000	0.22286	0.612000	0.20040	-0.163000	0.11536	0.997000	0.40164	0.989000	0.31174	0.994000	0.71098	0.1713:0.589:0.0:0.2397	6.644	0.22118	854	0.34840	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.1429	2014.22	35	chrX	32565806	.	T	C	2014.22	.	AC=2;AF=0.143;AN=14;DP=240;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=30.99;SOR=0.787	GT:AD:DP:GQ:PL	1/1:0,65:65:99:2035,195,0	6	1	0	0
chrX	47370706	47370706	C	T	exonic	ZNF157	.	nonsynonymous SNV	ZNF157:NM_003446:exon1:c.C38T:p.A13V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.00288594737523	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.831e-06	1.821e-06	1.364e-06	2.783e-06	3.776e-05	3e-07	1.1e-07	6.26e-06	2.34e-06	0	0	0	0	0	0	0	0	3.776e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.127	0.27080	T	0.284	0.21411	T	0.084	0.24799	B	0.034	0.22546	B	.	.	.	.	1	0.08975	N	0.72	0.18721	N	3.16	0.07711	T	-0.76	0.21215	N	0.103	0.08646	-0.9402	0.42584	T	0.015	0.06042	T	9	0.09545007	0.17048	T	0.002886	0.06074	T	0.014	0.01968	0.282	0.23801	0.697148158025	0.69453	0.43151347827604164	0.43068	0.0272404351771	0.02780	0.717023551464	0.69613	T	0.028885	0.20821	T	-0.419245	0.01729	T	-0.839993	0.01098	T	0.0670272409915924	0.08227	T	0.253475	0.03884	T	0.09319971	0.21883	0.13030869	0.31314	0.09319971	0.21883	0.13030869	0.31313	-4.07	0.24846	T	.	.	0.097	0.15921	B	.	.	0.606635	0.09749	6.518	0.98835202497810026	0.47018	0.01572	0.05130	N	AEFBI	.	.	.	.	.	.	.	.	.	0.021226936098994	0.13330	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.29	2.41	0.28644	0.256000	0.18120	0.373000	0.17698	0.594000	0.32500	0.006000	0.17386	0.000000	0.08366	0.026000	0.12556	0.0:0.7421:0.2579:0.0	7.609	0.27286	556	0.71678	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.2143	914.52	20	chrX	47370706	.	C	T	914.52	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-1.153;DP=118;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=21.77;ReadPosRankSum=0.769;SOR=0.516	GT:AD:DP:GQ:PL	1/1:0,19:19:57:546,57,0	5	1	1	0
chrX	47624357	47624357	T	C	exonic	CFP	.	nonsynonymous SNV	CFP:NM_001145252:exon9:c.A1328G:p.Q443R,CFP:NM_002621:exon10:c.A1328G:p.Q443R	Properdin deficiency, X-linked, X-linked recessive	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.208463659086	.	.	3.419e-05	0	0	0	0	0	0	0.0003	3.23e-05	5	154602	rs765506323	2.277e-05	2.276e-05	1.361e-05	4.131e-05	0.0005	1.563e-05	1.321e-05	0.0002	0.0002	0	0	0	0	0	0.0005	2.376e-06	6.51e-05	0.0003	9.14e-06	8.713e-06	0	3.161e-05	0.0004	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0004	0.094	0.31383	T	0.089	0.40426	T	0.922	0.51142	P	0.737	0.55577	P	0.000384	0.44960	D	0.199169	0.690962	0.30191	N	2.77	0.80896	M	1.01	0.41058	T	-0.86	0.23372	N	0.079	0.05542	-0.7123	0.59839	T	0.184	0.53209	T	10	0.20570028	0.36805	T	0.208464	0.87148	D	0.131	0.35738	0.213	0.13210	0.161926535498	0.15789	0.8119961574407116	0.81155	1.32521454968	0.83545	0.416357636452	0.27336	T	0.162	0.50619	T	-0.401227	0.02273	T	-0.529398	0.19346	T	0.49982351064682	0.32622	T	0.650635	0.26150	T	0.33636817	0.55989	0.22174941	0.46996	0.33636817	0.55989	0.22174941	0.46995	-3.483	0.16195	T	0.6340147266199567	0.70379	0.091	0.12891	B	.;.	.;.	3.355123	0.46298	22.3	0.98718912238097489	0.45171	0.64613	0.32464	D	AEFGBCI	.	.	.	.	.	.	.	.	.	0.999999953113018	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.54	5.54	0.82907	3.090000	0.49888	7.830000	0.70079	0.661000	0.55757	0.998000	0.41325	1.000000	0.68203	0.213000	0.22268	0.0:0.0:0.0:1.0	11.122	0.47518	628	0.65206	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2143	5527.71	35	chrX	47624357	.	T	C	5527.71	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-1.225;DP=442;ExcessHet=0;FS=1.016;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=18.87;ReadPosRankSum=0.565;SOR=0.784	GT:AD:DP:GQ:PL	1/1:0,101:101:99:2831,302,0	5	1	1	0
chrX	49039321	49039321	G	A	exonic	TFE3	.	nonsynonymous SNV	TFE3:NM_001282142:exon3:c.C5T:p.S2L,TFE3:NM_006521:exon3:c.C320T:p.S107L	Renal cell carcinoma, papillary, 1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.00633501382377	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1264471344	3.693e-06	3.652e-06	4.101e-06	2.843e-06	3.338e-05	8.6e-07	5.8e-07	9.6e-07	2.7e-07	0	0	0	3.338e-05	0	0	3.612e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.213	0.26467	T	0.081	0.24602	B	0.006	0.12133	B	0.033198	0.24930	N	0.326142	0.592321	0.32467	D	1.7	0.43825	L	2.36	0.16089	T	-1.73	0.41046	N	0.299	0.33796	-1.0749	0.08369	T	0.033	0.14290	T	10	0.24231541	0.41425	T	0.006335	0.16639	T	0.049	0.13647	0.27	0.21893	0.138757226776	0.13463	0.5193158588637525	0.51854	0.814098478581	0.66863	0.759120702744	0.75799	T	0.589346	0.86673	D	-0.247526	0.14404	T	-0.59333	0.13380	T	0.7932049036026	0.45900	D	0.885811	0.61165	D	0.2122582	0.43572	0.26008326	0.51767	0.2122582	0.43572	0.26008326	0.51766	-3.557	0.17239	T	.	.	0.142	0.31177	B	.	.	4.345984	0.66707	25.0	0.99770152349359653	0.85834	0.95598	0.65363	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.999999971519615	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.36	4.5	0.54382	3.035000	0.49449	11.610000	0.93539	0.676000	0.76740	0.982000	0.35529	1.000000	0.68203	1.000000	0.97212	0.0948:0.0:0.9052:0.0	10.422	0.43544	36	0.98055	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	56.34	42	chrX	49039321	.	G	A	56.34	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-1.337;DP=318;ExcessHet=1.383;FS=223.934;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=0.46;ReadPosRankSum=-0.631;SOR=8.086	GT:AD:DP:GQ:PL	0/1:31,11:42:11:11,0,497	3	0	3	1
chrX	49332776	49332776	A	T	exonic	GAGE13;GAGE2D;GAGE2E;GAGE8	.	nonsynonymous SNV	GAGE2D:NM_001098407:exon2:c.A39T:p.R13S,GAGE13:NM_001098412:exon2:c.A39T:p.R13S,GAGE2E:NM_001127200:exon2:c.A39T:p.R13S,GAGE8:NM_012196:exon2:c.A39T:p.R13S	.	548	918	55	1	0	57	0.0301109	.	.	.	3977508	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.009	0.0963211805793	.	.	0.0021	0	0	0.0870	0	0	0	0.0127	.	.	.	rs782197330	0.0004	0.0024	0.0006	1.027e-05	0.0011	0.0004	0.0004	0.0008	0.0007	0.0002	0.0011	0.0007	0.0004	0.0004	0.0006	0.0004	0.0003	0.0002	0.0003	0.0033	0.0004	0	0.0005	0.0002	0.0002	0.0002	0.0002	0.0003	0	0	0	0	0.0015	0	0.0005	0	0	.	.	.	0.065	0.44702	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.179	0.19325	-1.0272	0.21363	T	0.034	0.14639	T	8	0.10150775	0.18551	T	0.096321	0.76582	D	.	.	.	.	0.0551355673512	0.04727	0.044374252869738985	0.04381	.	.	0.481666773558	0.36287	T	0.023792	0.18095	T	-0.449224	0.01141	T	-0.883056	0.00629	T	0.489776283502579	0.32256	T	0.334567	0.07109	T	0.41984916	0.62081	0.30143943	0.56176	0.41984916	0.62082	0.30143943	0.56175	-4.846	0.35123	T	.	.	0.287	0.51951	B	.	.	1.310242	0.17132	12.98	0.98174813158402829	0.38890	0.00875	0.03461	N	AEFI	.	.	.	.	.	.	.	.	.	1.42886845054689E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.78	0.78	0.17701	-0.334000	0.07927	-1.097000	0.06340	-0.565000	0.04808	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	.	.	.	53	0.97589	GAGE|GAGE	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.034783	0.047619	0.007092	0.026316	0.000000	0.000000	0.106383	0.062500	0.1667	127.29	3	chrX	49332776	.	A	T	127.29	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.282;DP=27;ExcessHet=0.4139;FS=11.139;MLEAC=2;MLEAF=0.167;MQ=27.58;MQRankSum=0;QD=10.61;ReadPosRankSum=2.19;SOR=0.019	GT:AD:DP:GQ:PL	0/1:4,3:7:54:54,0,106	4	0	2	1
chrX	54238395	54238395	C	G	exonic	WNK3	.	nonsynonymous SNV	WNK3:NM_001002838:exon19:c.G3820C:p.A1274P,WNK3:NM_020922:exon19:c.G3961C:p.A1321P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.232290703586	.	.	3.441e-05	0	0	0	0	0	0	0.0003	3.23e-05	5	154602	rs782221000	1.822e-05	1.821e-05	1.497e-05	2.479e-05	0.0005	1.19e-05	9.67e-06	0.0002	0.0001	0	0	0	0	0	0.0005	2.376e-06	2.171e-05	0.0003	1.787e-05	1.741e-05	1.285e-05	2.933e-05	0.0008	2.97e-06	1.11e-06	0.0001	5.543e-05	0	0	0	0	0	0	0	0	0	0.0008	0.006	0.61437	D	0.272	0.23164	T	0.003	0.11197	B	0.011	0.15521	B	0.204086	0.16527	N	0.544962	1	0.08975	N	0.805	0.20218	L	-0.5	0.70833	T	-1.4	0.38151	N	0.153	0.15749	-1.0295	0.20616	T	0.155	0.48636	T	10	0.05157432	0.05059	T	0.232291	0.88314	D	0.044	0.11924	0.293	0.25560	0.220282294035	0.21616	0.5777675379425738	0.57705	0.277327358951	0.30209	0.353463768959	0.18431	T	0.062499	0.31932	T	-0.450757	0.01118	T	-0.58071	0.14482	T	0.0617594144810196	0.07444	T	0.626737	0.25394	T	0.3609784	0.57910	0.3093593	0.56951	0.3609784	0.57911	0.3093593	0.56950	-3.512	0.16741	T	.	.	0.176	0.38534	B	.;.;.;.	.;.;.;.	2.201710	0.28079	17.68	0.98798974773227455	0.46413	0.37988	0.25886	N	AEFGBI	.	.	.	.	.	.	.	.	.	9.06946502425865E-5	0.04703	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.17	2.06	0.25932	0.641000	0.24411	0.920000	0.22697	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1822:0.5035:0.1506:0.1637	2.397	0.04125	5	0.99359	.;.;.;.	.	.	.	.	.	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	0.001376	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.010526	0.2143	3002.03	33	chrX	54238395	.	C	G	3002.03	.	AC=3;AF=0.214;AN=14;BaseQRankSum=1.1;DP=284;ExcessHet=0;FS=0.628;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=18.65;ReadPosRankSum=-0.445;SOR=0.782	GT:AD:DP:GQ:PL	1/1:0,63:63:99:1942,189,0	5	1	1	0
chrX	55146104	55146104	G	A	exonic	FAM104B	.	stopgain	FAM104B:NM_001166700:exon3:c.C331T:p.R111X,FAM104B:NM_001166701:exon3:c.C328T:p.R110X,FAM104B:NM_001166702:exon3:c.C319T:p.R107X,FAM104B:NM_001166703:exon3:c.C325T:p.R109X	.	438	7	893	184	0	1261	0.98902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.0042	0	0	0.0002	7.025e-05	0	0.0001	0.0310669	4803	154602	rs1047054	7.297e-06	9.106e-06	9.533e-06	2.762e-06	3.791e-05	3.14e-06	2.27e-06	6.14e-06	2.3e-06	3.791e-05	0	0	0	0	0	5.942e-06	0	3.701e-05	1.802e-05	1.746e-05	1.286e-05	3.013e-05	0.0004	2.99e-06	1.12e-06	.	.	3.282e-05	0	0	0	0	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.984587	0.24787	N	.	.	.	.	.	.	.	.	.	0.121	0.18512	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334032	0.85436	D	0.242037	0.85245	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	4.503254	0.70449	25.5	0.92570320911590998	0.22025	0.23489	0.22092	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999986651300857	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	0.637	0.16907	1.269000	0.32677	-0.938000	0.06858	0.596000	0.33519	1.000000	0.71638	0.000000	0.08366	0.291000	0.24285	0.0:0.0:0.6198:0.3802	4.504	0.11285	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.069015	0.068027	0.074212	0.055556	0.000000	0.094118	0.048673	0.068421	0.6429	77347.4	456	chrX	55146104	.	G	A	77347.4	.	AC=9;AF=0.643;AN=14;BaseQRankSum=1.09;DP=3383;ExcessHet=4.7409;FS=0.72;MLEAC=9;MLEAF=0.643;MQ=60;MQRankSum=0;QD=23.53;ReadPosRankSum=0.916;SOR=0.605	GT:AD:DP:GQ:PL	1/1:43,454:497:99:14449,273,0	0	2	5	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	0.2143	7311.37	432	chrX	55146139	.	G	A	7311.37	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-1.007;DP=3394;ExcessHet=1.1394;FS=0.599;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=4.84;ReadPosRankSum=1.14;SOR=0.581	GT:AD:DP:GQ:PL	0/1:477,73:550:99:313,0,14049	4	0	3	0
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	0.2857	7932.13	432	chrX	55146173	.	G	A	7932.13	.	AC=4;AF=0.286;AN=14;BaseQRankSum=1.6;DP=3372;ExcessHet=2.5225;FS=1.254;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=5.16;ReadPosRankSum=0.486;SOR=0.613	GT:AD:DP:GQ:PL	0/1:464,98:562:99:1344,0,13789	3	0	4	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	0.2857	6567.13	367	chrX	55146197	.	G	A	6567.13	.	AC=4;AF=0.286;AN=14;BaseQRankSum=2.82;DP=3136;ExcessHet=2.5225;FS=1.3;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=4.89;ReadPosRankSum=1.02;SOR=0.703	GT:AD:DP:GQ:PL	0/1:407,84:491:99:1121,0,12472	3	0	4	0
chrX	55146212	55146212	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G223A:p.D75N,FAM104B:NM_001166700:exon3:c.G223A:p.D75N,FAM104B:NM_001166701:exon3:c.G220A:p.D74N,FAM104B:NM_001166702:exon3:c.G211A:p.D71N,FAM104B:NM_001166703:exon3:c.G217A:p.D73N,FAM104B:NM_138362:exon3:c.G220A:p.D74N	.	432	10	1015	52	13	1132	0.982441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.00302221843962	.	0.0013245	0.0001	0.0014	0	0	0	2.118e-05	0	0	0.0081067	211	26028	rs1047042	4.61e-06	4.563e-06	5.457e-06	2.843e-06	3.873e-05	1.35e-06	9.8e-07	6.25e-06	2.34e-06	3.873e-05	0	5.196e-05	0	0	0	1.202e-06	0	3.766e-05	9.039e-06	8.741e-06	1.287e-05	0	9.612e-05	0	0	.	.	0	0	9.612e-05	0	0	0	0	0	0	0	0.675	0.04495	T	1.0	0.06345	T	0.003	0.11197	B	0.0	0.04355	B	0.171170	0.17370	N	0.505297	1	0.08975	P	-0.49	0.02651	N	1.04	0.40218	T	0.87	0.01688	N	0.132	0.13626	-1.0454	0.15709	T	0.035	0.15160	T	9	0.0060353875	0.00136	T	0.003022	0.06487	T	0.012	0.01476	0.247	0.18293	0.0806252709748	0.07271	0.0651596601341745	0.06454	0.0775316632676	0.08717	0.25642067194	0.04473	T	0.008956	0.08187	T	-0.596363	0.00153	T	-1.09441	0.00031	T	0.0048729239977625	0.00052	T	0.519848	0.16911	T	0.03745953	0.04805	0.041539483	0.04745	0.03745953	0.04805	0.041539483	0.04745	-3.393	0.14963	T	.	.	0.058	0.00614	B	.;.;.;.;.	.;.;.;.;.	-0.711233	0.01295	0.069	0.1342819324597182	0.00264	0.00118	0.00744	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999988775956904	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-1.04	0.09555	0.059000	0.14199	-2.996000	0.03156	-0.242000	0.07441	0.003000	0.16062	0.000000	0.08366	0.015000	0.10482	0.0:0.4679:0.0:0.5321	4.225	0.10030	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	71907.1	363	chrX	55146212	.	C	T	71907.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=1.54;DP=3046;ExcessHet=14.2834;FS=0;MLEAC=7;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.81;ReadPosRankSum=0.683;SOR=0.621	GT:AD:DP:GQ:PL	0/1:55,380:435:99:12869,0,192	0	0	7	0
chrX	55146226	55146226	A	G	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.T209C:p.I70T,FAM104B:NM_001166700:exon3:c.T209C:p.I70T,FAM104B:NM_001166701:exon3:c.T206C:p.I69T,FAM104B:NM_001166702:exon3:c.T197C:p.I66T,FAM104B:NM_001166703:exon3:c.T203C:p.I68T,FAM104B:NM_138362:exon3:c.T206C:p.I69T	.	377	953	191	1	0	193	0.0919485	.	.	.	2292730	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.021	0.00406903138937	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs5018687	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.403	0.10378	T	0.268	0.22694	T	0.393	0.34680	B	0.291	0.53365	B	0.039374	0.24178	N	0.273281	1	0.08975	N	0.64	0.16041	N	0.95	0.43279	T	-0.72	0.25332	N	0.2	0.23506	-0.9521	0.40608	T	0.090	0.34463	T	10	0.055033892	0.05951	T	0.004069	0.09712	T	0.021	0.04004	.	.	0.141422826196	0.13715	0.06275098226723172	0.06214	0.248494845932	0.27412	0.330263495445	0.14974	T	0.020098	0.15887	T	-0.449697	0.01134	T	-0.883735	0.00624	T	0.0690480346428045	0.08518	T	0.637636	0.25136	T	0.03846359	0.05127	0.06403163	0.12771	0.03846359	0.05127	0.06403163	0.12771	-2.966	0.10052	T	.	.	0.086	0.10787	B	.;.;.;.;.	.;.;.;.;.	-0.138938	0.03417	0.621	0.94453687128581543	0.24887	0.00870	0.03447	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999988350960953	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	-0.877	0.10083	-0.230000	0.09093	-3.501000	0.02739	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.713000	0.34548	0.5262:0.0:0.4738:0.0	4.189	0.09871	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	1616.24	285	chrX	55146226	.	A	G	1616.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.761;DP=2585;ExcessHet=0.3476;FS=0.765;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=1.49;ReadPosRankSum=-0.326;SOR=0.824	GT:AD:DP:GQ:PL	0/1:330,66:396:99:826,0,10847	5	0	2	0
chrX	55146247	55146247	G	C	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.C188G:p.P63R,FAM104B:NM_001166700:exon3:c.C188G:p.P63R,FAM104B:NM_001166701:exon3:c.C185G:p.P62R,FAM104B:NM_001166702:exon3:c.C176G:p.P59R,FAM104B:NM_001166703:exon3:c.C182G:p.P61R,FAM104B:NM_138362:exon3:c.C185G:p.P62R	.	398	590	530	4	0	538	0.313155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.0130273709953	.	.	.	.	.	.	.	.	.	.	0.0032657	85	26028	rs111638770	9.115e-07	9.107e-07	1.361e-06	0	1.848e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.848e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.006	0.72224	D	0.752	0.77913	P	0.071	0.79672	B	0.181519	0.17089	U	0.482281	1	0.18198	N	1.79	0.46772	L	0.49	0.55775	T	-6.46	0.91956	D	0.329	0.36989	-0.9561	0.39898	T	0.213	0.57334	T	10	0.25765532	0.43183	T	0.013027	0.32109	T	0.133	0.36157	0.439	0.49321	0.176091768786	0.17195	0.15725273701375614	0.15646	0.462644719079	0.45794	0.299729704857	0.10360	T	0.09323	0.39168	T	-0.104812	0.35627	T	-0.388332	0.34746	T	0.953682541847229	0.64085	D	0.80372	0.51656	T	0.38991144	0.60026	0.48550862	0.70220	0.38991144	0.60026	0.48550862	0.70221	-3.385	0.15177	T	.	.	0.146	0.32275	B	.;.;.;.;.	.;.;.;.;.	2.836954	0.37416	20.5	0.99573153193770736	0.72501	0.41324	0.26632	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999994922950989	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	1.6	0.22686	2.239000	0.42728	2.405000	0.32612	0.596000	0.33519	0.999000	0.42656	0.987000	0.30940	0.973000	0.55318	0.0:0.0:1.0:0.0	6.091	0.19219	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.013879	0.020408	0.018553	0.003953	0.000000	0.023529	0.013274	0.005263	0.2857	5365.13	241	chrX	55146247	.	G	C	5365.13	.	AC=4;AF=0.286;AN=14;BaseQRankSum=0.165;DP=2350;ExcessHet=2.5225;FS=0.657;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=5.83;ReadPosRankSum=-0.657;SOR=0.768	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:284,52:336:99:0|1:55146247_G_C:1123,0,11406:55146247	3	0	4	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	5298.09	241	chrX	55146252	.	A	AT	5298.09	.	AC=4;AF=0.286;AN=14;BaseQRankSum=1.55;DP=2302;ExcessHet=2.5225;FS=0.655;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=5.98;ReadPosRankSum=-1.221;SOR=0.794	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:270,51:321:99:0|1:55146247_G_C:1153,0,11039:55146247	3	0	4	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	46390.1	239	chrX	55146254	.	T	C	46390.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=0.127;DP=2318;ExcessHet=14.2834;FS=2.658;MLEAC=7;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.82;ReadPosRankSum=-0.102;SOR=0.514	GT:AD:DP:GQ:PL	0/1:103,207:310:99:6274,0,3199	0	0	7	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	5246.09	181	chrX	55146255	.	TG	T	5246.09	.	AC=4;AF=0.286;AN=14;BaseQRankSum=0.588;DP=2026;ExcessHet=2.5225;FS=0.657;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=6.16;ReadPosRankSum=-1.383;SOR=0.761	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:261,48:309:99:0|1:55146247_G_C:1163,0,10815:55146247	3	0	4	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	45507.1	184	chrX	55146275	.	T	G	45507.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-0.077;DP=1901;ExcessHet=14.2834;FS=7.332;MLEAC=7;MLEAF=0.5;MQ=60;MQRankSum=0;QD=25.06;ReadPosRankSum=-2.887;SOR=0.338	GT:AD:DP:GQ:PL	0/1:44,198:242:99:7121,0,1003	0	0	7	0
chrX	55146283	55146283	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G152A:p.S51N,FAM104B:NM_001166700:exon3:c.G152A:p.S51N,FAM104B:NM_001166701:exon3:c.G149A:p.S50N,FAM104B:NM_001166702:exon3:c.G140A:p.S47N,FAM104B:NM_001166703:exon3:c.G146A:p.S49N,FAM104B:NM_138362:exon3:c.G149A:p.S50N	.	397	623	499	3	0	505	0.288407	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.0110921071969	.	.	.	.	.	.	.	.	.	.	0.0152528	397	26028	rs5018688	0	9.106e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.59928	D	0.093	0.43913	T	0.393	0.56973	B	0.383	0.56425	B	0.059846	0.22293	U	0.378995	1	0.08975	N	1.89	0.50145	L	0.58	0.54149	T	-1.28	0.38924	N	0.403	0.45237	-0.9915	0.32218	T	0.137	0.45260	T	10	0.1055212	0.19508	T	0.011092	0.28353	T	0.056	0.15993	0.195	0.10705	0.117506650769	0.11410	0.13308873038305813	0.13232	0.421847818605	0.42694	0.421121031046	0.27990	T	0.02108	0.16480	T	-0.332179	0.05948	T	-0.714929	0.05044	T	0.244155928492546	0.22609	T	0.533147	0.22079	T	0.27807146	0.50863	0.22633299	0.47608	0.27807146	0.50863	0.22633299	0.47607	-4.287	0.28968	T	.	.	0.120	0.24733	B	.;.;.;.;.	.;.;.;.;.	0.299513	0.06751	3.267	0.94323433060273598	0.24650	0.08620	0.14524	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999986223079379	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	0.279	0.14929	0.332000	0.19494	-0.521000	0.08690	0.530000	0.24713	0.996000	0.39380	0.000000	0.08366	0.128000	0.19490	0.5333:0.4667:0.0:0.0	4.875	0.13009	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2857	7945.13	159	chrX	55146283	.	C	T	7945.13	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-0.228;DP=1737;ExcessHet=2.5225;FS=0.585;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=6.06;ReadPosRankSum=-0.29;SOR=0.61	GT:AD:DP:GQ:PL	0/1:138,72:210:99:1492,0,4138	3	0	4	0
chrX	71100925	71100925	T	C	exonic	FOXO4	.	nonsynonymous SNV	FOXO4:NM_005938:exon2:c.T695C:p.V232A,FOXO4:NM_001170931:exon3:c.T530C:p.V177A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.223	0.0253091899793	.	.	0.0002	0	0	0	0	0.0003	0	0	0.0001358	21	154602	rs199927821	3.553e-05	3.551e-05	2.859e-05	4.96e-05	0.0001	2.66e-05	2.336e-05	6.071e-05	4.249e-05	0	0	0	0	0	0	3.207e-05	0.0001	0.0001	2.676e-05	2.611e-05	2.57e-05	2.917e-05	6.486e-05	7.11e-06	2.97e-06	1.074e-05	4.02e-06	6.486e-05	0	0	0	0	0	0	1.881e-05	0	0	0.928	0.02327	T	0.959	0.02917	T	0.0	0.02946	B	0.0	0.01387	B	0.003485	0.00965	N	27.304500	1	0.08975	N	-0.69	0.01958	N	-3.46	0.95458	D	1.26	0.00998	N	0.036	0.01658	-0.0966	0.80176	T	0.681	0.88985	D	10	0.014832288	0.00312	T	0.025309	0.48284	D	0.223	0.52023	0.239	0.17065	0.287411543184	0.28351	0.4419654593261067	0.44113	0.412149464764	0.41964	0.249682813883	0.03735	T	0.33972	0.70884	T	-0.350164	0.04716	T	-0.476334	0.24837	T	0.0164028709060089	0.00407	T	0.293371	0.05395	T	0.025123097	0.01415	0.05011	0.07796	0.025123097	0.01415	0.05011	0.07796	-1.707	0.03230	T	.	.	0.065	0.03661	B	.;.	.;.	-0.013291	0.04192	1.018	0.5319539533865385	0.04892	0.10718	0.16144	N	AEFDGBCI	.	.	.	.	.	.	.	.	.	0.999928012464835	0.46280	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.11	-1.7	0.07721	1.750000	0.37956	0.300000	0.16968	-0.800000	0.03169	0.037000	0.20830	0.000000	0.08366	0.615000	0.31768	0.0:0.2821:0.2262:0.4917	6.234	0.19965	519	0.74455	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.2143	3065.35	33	chrX	71100925	.	T	C	3065.35	.	AC=3;AF=0.214;AN=14;BaseQRankSum=2.15;DP=295;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=19.65;ReadPosRankSum=0.781;SOR=0.648	GT:AD:DP:GQ:PL	1/1:0,49:49:99:1551,147,0	5	1	1	0
chrX	74591813	74591813	G	A	exonic	RLIM	.	nonsynonymous SNV	RLIM:NM_016120:exon4:c.C1502T:p.S501L,RLIM:NM_183353:exon5:c.C1502T:p.S501L	Mental retardation, X-linked 61, X-linked recessive	9	1490	23	0	0	23	0.00765901	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.00392722355489	.	.	0.0002	0.0001	0	0	0	0.0002	0	0.0005	3.84e-05	1	26028	rs200629905	9.112e-07	2.732e-06	1.361e-06	0	1.188e-06	0	0	.	.	0	0	0	0	0	0	1.188e-06	0	0	1.841e-05	0.0001	2.588e-05	0	3.351e-05	3.06e-06	1.15e-06	.	.	3.351e-05	0	0	0	0	0	0	1.925e-05	0	0	0.42	0.09836	T	0.382	0.15890	T	0.0	0.02946	B	0.0	0.01387	B	0.264373	0.15251	N	0.666655	0.949983	0.37675	D	0.75	0.19020	N	3.03	0.08898	T	-0.73	0.20576	N	0.123	0.11483	-1.0706	0.09282	T	0.025	0.10598	T	10	0.013200998	0.00281	T	0.003927	0.09274	T	0.132	0.35948	.	.	0.474660930215	0.47096	0.4159198749435835	0.41507	0.659223824986	0.58794	0.605702996254	0.53710	T	0.099372	0.40412	T	-0.300593	0.08604	T	-0.669557	0.07637	T	0.123469986021519	0.14766	T	0.649135	0.25986	T	0.103400156	0.24439	0.122803114	0.29618	0.103400156	0.24438	0.122803114	0.29617	-7.457	0.57308	T	0.06091627704634275	0.01704	0.072	0.04198	B	.;.	.;.	1.715856	0.21849	15.37	0.81488155183217736	0.13710	0.91941	0.54595	D	AEFBCI	.	.	.	.	.	.	.	.	.	0.999021295674977	0.38237	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.41	4.55	0.55429	2.957000	0.48830	4.344000	0.43067	-0.113000	0.14837	0.998000	0.41325	1.000000	0.68203	0.948000	0.49324	0.0772:0.0:0.9228:0.0	13.469	0.60726	99	0.95913	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.035865	0.095238	0.024119	0.019763	0.071429	0.035294	0.044248	0.026316	0.1667	477.79	95	chrX	74591813	.	G	A	477.79	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.651;DP=333;ExcessHet=0.4139;FS=2.098;MLEAC=2;MLEAF=0.167;MQ=57.32;MQRankSum=-7.173;QD=3.54;ReadPosRankSum=-1.173;SOR=1.059	GT:AD:DP:GQ:PL	0/1:49,15:64:99:291,0,1599	4	0	2	1
chrX	74591904	74591904	A	G	exonic	RLIM	.	nonsynonymous SNV	RLIM:NM_016120:exon4:c.T1411C:p.S471P,RLIM:NM_183353:exon5:c.T1411C:p.S471P	Mental retardation, X-linked 61, X-linked recessive	9	1217	293	0	3	296	0.107444	.	.	.	706313	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.240	.	.	.	0.0029	0.0116	0.0005	0	0.0003	0.0029	0	0.0019	0.0113453	1754	154602	rs201164156	0.0008	0.0027	0.0011	0	0.0013	0.0007	0.0007	0.0009	0.0008	0.0013	0.0003	0.0003	0.0002	0.0021	0.0008	0.0008	0.0009	0.0001	0.0005	0.0047	0.0008	0	0.0009	0.0004	0.0004	0.0004	0.0003	0.0006	0	0.0005	0.0004	0.0009	0.0005	0	0.0005	0.0007	0.0004	0.21	0.19639	T	0.328	0.18675	T	0.842	0.46562	P	0.1	0.30674	B	0.514165	0.11812	U	0.638142	1	0.08975	N	1.7	0.43825	L	-1.96	0.85091	D	-0.25	0.11008	N	0.207	0.22998	-0.7951	0.55432	T	0.216	0.57836	T	10	0.006244242	0.00141	T	.	.	.	0.240	0.54500	.	.	.	.	0.4665592874844735	0.46574	0.934645105114	0.71975	0.607906699181	0.54020	T	0.132362	0.46240	T	-0.0295646	0.47480	T	-0.280244	0.46779	T	0.0105822094544231	0.00148	T	0.430157	0.11673	T	0.09892091	0.23338	0.13853694	0.33082	0.09892091	0.23338	0.13853694	0.33082	-7.284	0.56081	T	0.3542269034747019	0.45119	0.098	0.16231	B	.;.	.;.	0.643466	0.10120	6.865	0.20867452940731573	0.00770	0.09317	0.15097	N	AEFGBCI	.	.	.	.	.	.	.	.	.	0.920848692020125	0.26649	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.66	0.088	0.13764	0.990000	0.29242	2.406000	0.32617	0.756000	0.94297	0.212000	0.24446	0.201000	0.23571	0.004000	0.06068	0.5962:0.4038:0.0:0.0	3.724	0.07997	99	0.95913	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.100000	0.136054	0.068646	0.102767	0.071429	0.058824	0.132743	0.089474	0.2857	3271.13	272	chrX	74591904	.	A	G	3271.13	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-2.883;DP=749;ExcessHet=2.5225;FS=3.458;MLEAC=4;MLEAF=0.286;MQ=57.99;MQRankSum=-11.57;QD=5.1;ReadPosRankSum=4.34;SOR=0.404	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:135,44:179:99:0|1:74591902_T_A:1441,0,5536:74591902	3	0	4	0
chrX	74591957	74591957	C	T	exonic	RLIM	.	nonsynonymous SNV	RLIM:NM_016120:exon4:c.G1358A:p.S453N,RLIM:NM_183353:exon5:c.G1358A:p.S453N	Mental retardation, X-linked 61, X-linked recessive	10	1315	197	0	0	197	0.0696852	.	.	.	2752745	Intellectual_disability,_X-linked_61	MONDO:MONDO:0010506,MedGen:C4283894,OMIM:300978	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.158	0.22060859109	.	.	0	0	0	0	0	0	0	0	7.68e-05	2	26028	rs201787580	2.754e-06	0.0004	4.09e-06	0	3.589e-06	7.3e-07	2e-07	9.6e-07	2.7e-07	0	0	0	0	0	0	3.589e-06	0	0	2.789e-05	0.0021	3.904e-05	0	9.85e-05	7.41e-06	3.06e-06	6.46e-06	2.42e-06	0	0	9.85e-05	0	0	0	0	3.895e-05	0	0	0.257	0.16738	T	0.499	0.11227	T	0.0	0.02946	B	0.0	0.01387	B	0.016982	0.27835	N	0.389770	1	0.08975	N	0.685	0.16464	N	-1.6	0.82165	D	-0.42	0.14193	N	0.236	0.26596	-0.8724	0.50349	T	0.310	0.68066	T	10	0.122223884	0.23183	T	0.220609	0.87766	D	0.158	0.41098	.	.	0.557858568325	0.55445	0.312164728673577	0.31129	0.692380051853	0.60661	0.502812802792	0.39220	T	0.172441	0.52093	T	-0.174656	0.24534	T	-0.488658	0.23531	T	0.0512267297337718	0.05713	T	0.508649	0.16166	T	0.07587642	0.17124	0.10946825	0.26384	0.07587642	0.17124	0.10946825	0.26384	-6.705	0.51848	T	.	.	0.087	0.11606	B	.;.	.;.	0.832856	0.12043	8.599	0.64009249238066646	0.07376	0.44947	0.27430	N	AEFGBCI	.	.	.	.	.	.	.	.	.	0.995911489112744	0.34405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.98	4.1	0.47196	0.741000	0.25870	0.022000	0.13604	0.599000	0.40250	0.101000	0.22814	0.000000	0.08366	0.960000	0.51673	0.0:0.8818:0.0:0.1182	7.602	0.27251	99	0.95913	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.004828	0.013605	0.001855	0.007905	0.000000	0.000000	0.008850	0.000000	0.1429	1814.34	40	chrX	74591957	.	C	T	1814.34	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.454;DP=573;ExcessHet=0.3476;FS=9.041;MLEAC=2;MLEAF=0.143;MQ=58.48;MQRankSum=-12.07;QD=4.44;ReadPosRankSum=-3.523;SOR=1.2	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:162,33:195:99:0|1:74591902_T_A:898,0,6664:74591902	5	0	2	0
chrX	115190598	115190598	A	G	exonic	RBMXL3	.	nonsynonymous SNV	RBMXL3:NM_001145346:exon1:c.A1157G:p.E386G	.	444	1076	1	1	0	3	0.00139211	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.00118084413489	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1009145759	0.0004	0.0001	0.0003	0.0004	0.0015	0.0003	0.0003	0.0004	0.0003	0	0.0009	0	0	0	0.0015	0.0005	0.0003	0	0.0001	0.0007	0.0002	0	0.0005	0	0	.	.	0	0	0	0	0	0	0	0.0005	0	0	0.003	0.68238	D	0.365	0.16717	T	0.003	0.11197	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0	0.06538	N	3.41	0.05574	T	0.36	0.03700	N	0.025	0.00485	-0.9474	0.41414	T	0.009	0.03227	T	9	0.0050412714	0.00109	T	0.001181	0.01509	T	0.033	0.08068	.	.	0.0138822411134	0.00435	0.005658407892697642	0.00535	.	.	0.350022852421	0.17925	T	0.002019	0.01432	T	-0.867357	0.00001	T	-1.00928	0.00122	T	0.0213141498442687	0.00833	T	0.264874	0.04312	T	0.0417875	0.06218	0.09241375	0.21777	0.0417875	0.06218	0.09241375	0.21776	-0.21	0.00432	T	.	.	0.119	0.24329	B	.	.	0.279153	0.06563	3.049	0.95804363132173043	0.27867	0.00127	0.00790	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.354709594163832	0.19718	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.341	-0.683	0.10765	-0.919000	0.04125	1.191000	0.24766	-0.767000	0.03477	0.006000	0.17386	0.003000	0.18671	0.000000	0.00833	0.6726:0.0:0.3274:0.0	3.836	0.08407	937	0.14592	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	2012.05	109	chrX	115190598	.	A	G	2012.05	.	AC=2;AF=0.333;AN=6;DP=521;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.5;MQ=60;QD=33.94;SOR=0.929	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,45:45:99:1|1:115190598_A_G:2025,135,0:115190598	2	1	0	4
chrX	115190599	115190599	A	C	exonic	RBMXL3	.	nonsynonymous SNV	RBMXL3:NM_001145346:exon1:c.A1158C:p.E386D	.	445	1075	1	1	0	3	0.0013934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.00106235134493	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1038984890	0.0004	0.0001	0.0003	0.0004	0.0015	0.0003	0.0003	0.0004	0.0003	0	0.0009	0	0	0	0.0015	0.0005	0.0003	0	0.0001	9.519e-05	0.0002	0	0.0008	0	0	.	.	0	0	0	0	0	0	0	0.0008	0	0	0.006	0.61437	D	0.599	0.07972	T	0.618	0.39878	P	0.063	0.27082	B	.	.	.	.	0.999998	0.08975	N	0.345	0.11182	N	3.48	0.05130	T	-0.04	0.07590	N	0.051	0.02272	-0.9416	0.42362	T	0.007	0.02598	T	9	0.0050660074	0.00109	T	0.001062	0.01215	T	0.044	0.11924	0.221	0.14371	0.0401082797425	0.02173	0.0037767337436312065	0.00353	.	.	0.376130789518	0.21707	T	0.002019	0.01432	T	-0.813103	0.00006	T	-0.928419	0.00339	T	0.0247411629427649	0.01239	T	0.306169	0.05876	T	0.09728689	0.22930	0.110249266	0.26582	0.09728689	0.22930	0.110249266	0.26581	-3.935	0.22828	T	.	.	0.210	0.43815	B	.	.	0.567978	0.09367	6.146	0.97724384594398994	0.35579	0.01863	0.05749	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.449734049446766	0.20529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.341	0.341	0.15229	0.164000	0.16359	-0.522000	0.08684	-0.489000	0.05048	0.006000	0.17386	0.000000	0.08366	0.000000	0.00833	0.9998:0.0:2.0E-4:0.0	5.005	0.13626	937	0.14592	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	2012.07	109	chrX	115190599	.	A	C	2012.07	.	AC=2;AF=0.333;AN=6;DP=520;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.5;MQ=60;QD=28.06;SOR=0.929	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,45:45:99:1|1:115190598_A_G:2025,135,0:115190598	2	1	0	4
chrX	141906309	141906309	-	ACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAGTCTCT	exonic	MAGEC1	.	nonframeshift insertion	MAGEC1:NM_005462:exon4:c.905_906insACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAGTCTCT:p.S308_S309insRSFSSTLLSIFQSSPERTQSTFEGFPQSLLQIPVS	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0016	0.0008	0.0014	0.0010	0.0010	0.0010	0.0009	0.0009	4.076e-05	0.0008	0.0022	0	0.0034	0.0008	0.0010	0.0013	0.0006	0.0002	0.0005	0.0001	0.0003	0.0003	0.0001	9.257e-05	0.0002	0.0001	3.628e-05	0	0	0	0	0.0006	0	0.0003	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	15708.6	86	chrX	141906309	.	C	CACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAGTCTCT	15708.6	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-0.819;DP=863;ExcessHet=0;FS=3.112;MLEAC=3;MLEAF=0.25;MQ=51.05;MQRankSum=-1.843;QD=33.66;ReadPosRankSum=2.65;SOR=0.499	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:4,119:123:99:1|1:141906309_C_CACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAGTCTCT:4970,351,0:141906309	4	1	1	1
chrY	9529058	9529063	GAAGAT	-	exonic	TSPY10;TSPY3	.	nonframeshift deletion	TSPY3:NM_001077697:exon2:c.526_531del:p.E178_D179del,TSPY10:NM_001282469:exon2:c.526_531del:p.E178_D179del,TSPY10:NM_001320962:exon2:c.526_531del:p.E178_D179del	.	1124	375	23	0	0	23	0.0297542	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	.	.	.	.	.	.	.	3.84e-05	1	26028	rs775696224	0.0001	0.0003	.	0.0001	0.0003	7.81e-05	6.801e-05	7.556e-05	6.341e-05	0.0002	0.0003	0	0	0	0	0.0001	0.0003	7.071e-05	0	0.0008	.	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	282.35	.	chrY	9529057	.	CGAAGAT	C	282.35	.	AC=1;AF=0.25;AN=4;BaseQRankSum=-0.163;DP=75;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.5;MQ=21.36;MQRankSum=0.785;QD=5.54;ReadPosRankSum=-1.213;SOR=0.066	GT:AD:DP:GQ:PL	0/1:41,10:51:99:287,0,1691	1	0	1	5