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	NSWES987	WT	HH	HZ	NC
chr1	1041648	1041648	G	T	exonic	AGRN	.	nonsynonymous SNV	AGRN:NM_198576:exon6:c.G1123T:p.A375S	Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, Autosomal recessive	0	1494	27	1	0	29	0.0096122	.	.	.	249308	Congenital_myasthenic_syndrome_8|not_specified|not_provided	MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.268	.	0.0050	0.00239617	0.0049	0.0012	0.0041	0	0.0040	0.0071	0.0025	0.0019	0.0045407	702	154602	rs138031468	0.0067	0.0067	0.0068	0.0067	0.0106	0.0066	0.0066	0.0085	0.0077	0.0015	0.0041	0.0129	2.522e-05	0.0031	0.0106	0.0075	0.0071	0.0025	0.0052	0.0052	0.0057	0.0046	0.0069	0.0049	0.0048	0.0064	0.0062	0.0015	0.0802	0.0062	0.0089	0	0.0023	0.0238	0.0069	0.0076	0.0019	0.022	0.48642	D	0.418	0.14241	T	.	.	.	.	.	.	0.034188	0.24801	N	0.330580	1	0.08975	N	1.58	0.39772	L	-0.89	0.74793	T	-1.15	0.29525	N	0.455	0.49965	-0.5829	0.65502	T	0.324	0.69298	T	10	0.0054303408	0.00120	T	.	.	.	0.268	0.58254	.	.	0.710180199758	0.70765	0.22814125765294255	0.22729	0.942051258392	0.72247	0.591584920883	0.51718	T	.	.	.	-0.408268	0.02041	T	-0.355499	0.38573	T	0.0232572930509463	0.01053	T	0.888711	0.62748	D	.	.	.	.	.	.	.	.	-5.076	0.37653	T	.	.	0.119	0.30739	B	.;.	.;.	2.839796	0.37459	20.5	0.98786712603817572	0.46222	0.22406	0.21735	N	AEFBI	0.131215	0.25007	N	-0.062004523584795	0.39068	2.298016	-0.207548251615355	0.31264	1.767697	0.988163787873818	0.31434	0.72623	0.87236	0	0.724815	0.89359	0	0.594344	0.31042	0	0.562822	0.20929	0	.	.	4.66	4.66	0.57857	1.487000	0.35149	9.713000	0.81340	0.648000	0.52827	0.021000	0.19753	1.000000	0.68203	0.018000	0.11154	0.0:0.0:0.8362:0.1638	12.783	0.56866	940	0.13648	.;Kazal domain|Kazal domain|Kazal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.011100	0.000000	0.016304	0.017544	0.000000	0.000000	0.012195	0.007576	0.07143	1176.49	119	chr1	1041648	.	G	T	1176.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.214;DP=310;ExcessHet=0;FS=2.39;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.89;ReadPosRankSum=-1.828;SOR=0.47	GT:AD:DP:GQ:PL	0/1:69,50:119:99:1187,0,1666	6	0	1	0
chr1	1756523	1756523	T	C	exonic	NADK	.	nonsynonymous SNV	NADK:NM_001198995:exon3:c.A383G:p.K128R,NADK:NM_001198993:exon5:c.A479G:p.K160R,NADK:NM_001353641:exon5:c.A479G:p.K160R,NADK:NM_001353642:exon5:c.A218G:p.K73R,NADK:NM_023018:exon5:c.A479G:p.K160R,NADK:NM_001198994:exon7:c.A914G:p.K305R	.	420	1100	2	0	0	2	0.000908265	.	.	.	3987127	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.093	0.0131533746627	.	.	4.135e-05	0	0.0004	0	0	0	0	0	3.23e-05	5	154602	rs771146301	6.157e-06	6.156e-06	6.807e-06	5.501e-06	0.0002	2.9e-06	2.1e-06	8.861e-05	6.427e-05	0	0.0002	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.27194	T	0.278	0.28300	T	0.029	0.19866	B	0.053	0.25678	B	0.000069	0.52346	D	0.196102	0.999107	0.46078	D	0.535	0.13693	N	0.97	0.42502	T	-1.52	0.37955	N	0.187	0.20528	-1.0835	0.06683	T	0.081	0.32119	T	10	0.14025855	0.26662	T	0.013153	0.32325	T	0.093	0.26882	0.523	0.62668	0.537681692007	0.53419	0.4373522316360708	0.43652	.	.	0.511760115623	0.40468	T	0.094833	0.39497	T	-0.353137	0.04533	T	-0.475733	0.24901	T	0.155024364590645	0.17496	T	0.839116	0.51273	T	0.16593684	0.36898	0.11401806	0.27520	0.16593684	0.36897	0.11401806	0.27519	-5.959	0.45935	T	.	.	0.067	0.06159	B	.;.;.;.	.;.;.;.	2.692555	0.35150	19.82	0.99711876357030016	0.81423	0.97474	0.74982	D	AEFDBI	0.489545	0.52740	N	-0.0457154019592584	0.39793	2.352513	0.0947659351191909	0.44286	2.71323	0.992884816123516	0.33004	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.77	4.65	0.57626	3.928000	0.56220	1.949000	0.29874	0.665000	0.62972	1.000000	0.71638	0.998000	0.33993	0.607000	0.31564	0.0:0.0757:0.0:0.9243	10.658	0.44877	692	0.58729	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	818.53	77	chr1	1756523	.	T	C	818.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.632;DP=268;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.63;ReadPosRankSum=0.693;SOR=0.787	GT:AD:DP:GQ:PL	0/1:43,34:77:99:829,0,1096	6	0	1	0
chr1	6448885	6448885	C	T	exonic	ESPN	.	nonsynonymous SNV	ESPN:NM_031475:exon8:c.C1709T:p.P570L	Deafness, autosomal recessive 36, Autosomal recessive;Deafness, neurosensory, without vestibular involvement, autosomal dominant (3)	5	1468	48	1	0	50	0.0167448	.	.	.	439091	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.036	.	.	0.0103834	0.0717	0.0556	0.0556	0.05	.	0.05	0.0556	0.0770	0.0021539	333	154602	rs527968078	0.0057	0.0055	0.0052	0.0062	0.0271	0.0056	0.0055	0.0254	0.0247	0.0016	0.0153	0.0166	0.0271	0.0096	0.0206	0.0040	0.0065	0.0214	0.0060	0.0061	0.0055	0.0065	0.0174	0.0057	0.0056	0.0144	0.0133	0.0010	0	0.0122	0.0150	0.0150	0.0118	0.0240	0.0048	0.0071	0.0174	0.002	0.72154	D	0.003	0.76473	D	0.0	0.02946	B	0.001	0.04355	B	0.682431	0.10247	N	0.819423	0.866195	0.81001	D	0	0.06538	N	-0.11	0.64445	T	-0.31	0.12099	N	0.023	0.00407	-0.9755	0.36015	T	0.084	0.32843	T	10	0.002673477	0.00041	T	.	.	.	0.036	0.09122	.	.	.	.	0.1366551528883657	0.13589	0.14692160482	0.16579	0.814818620682	0.84232	D	0.050058	0.28486	T	-0.584215	0.00182	T	-0.592364	0.13461	T	0.0235663459691323	0.01091	T	0.731327	0.34690	T	0.09153358	0.21449	0.13736086	0.32835	0.08325275	0.19218	0.10993142	0.26499	-4.304	0.28232	T	.	.	0.080	0.22171	B	.;.;.;.	.;.;.;.	2.423806	0.31168	18.66	0.98997328779848048	0.50065	0.01974	0.05975	N	AEFDBHCIJ	0.081452	0.16482	N	-0.986560555147902	0.08889	0.4185977	-0.86336138322725	0.12966	0.6700624	0.999999999374865	0.74766	0.59774	0.34471	0	0.541168	0.11318	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	5.0	0.938	0.18625	-0.552000	0.06110	2.361000	0.32372	0.446000	0.21189	0.000000	0.06391	0.937000	0.28687	0.512000	0.29290	0.0:0.5768:0.1312:0.292	6.157	0.19558	833	0.38804	.;.;.;.	.	.	.	.	.	Likely benign	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	0.008681	0.000000	0.000000	0.026667	0.000000	0.000000	0.007937	0.000000	0.07143	244.63	18	chr1	6448885	.	C	T	244.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.042;DP=140;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.59;ReadPosRankSum=2.11;SOR=0.693	GT:AD:DP:GQ:PL	0/1:9,9:18:99:255,0,254	6	0	1	0
chr1	6574913	6574913	C	T	exonic	TAS1R1	.	nonsynonymous SNV	TAS1R1:NM_138697:exon3:c.C781T:p.R261C	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.464	0.118733845383	0.0002	.	0.0003	9.688e-05	0.0003	0.0002	0	0.0004	0.0011	0.0001	0.0002781	43	154602	rs149223608	0.0002	0.0002	0.0002	0.0002	0.0021	0.0002	0.0002	0.0012	0.0009	0.0001	0.0002	0	5.039e-05	3.75e-05	0.0021	0.0002	0.0004	0.0002	0.0002	0.0002	0.0002	0.0002	0.0008	0.0001	0.0001	0.0003	0.0002	2.411e-05	0	0.0002	0.0003	0	0	0	0.0002	0.0005	0.0008	0.055	0.38407	T	0.077	0.42436	T	0.952	0.54136	P	0.657	0.52725	P	0.000759	0.00682	N	3.967890	0.999981	0.20048	N	2.05	0.56469	M	-1.77	0.83660	D	-1.85	0.43334	N	0.273	0.30914	-0.3752	0.72802	T	0.438	0.77727	T	10	0.1572245	0.29593	T	0.118734	0.79885	D	0.464	0.76023	.	.	0.615802107288	0.61270	0.21364724388031064	0.21280	0.643618189447	0.57884	0.25493657589	0.04306	T	0.377899	0.74098	T	-0.233682	0.16164	T	-0.255371	0.49285	T	0.0979910973529394	0.12135	T	0.754725	0.37732	T	0.1437332	0.33022	0.14100137	0.33591	0.1437332	0.33022	0.14100137	0.33591	-8.254	0.62788	D	.	.	0.146	0.32153	B	.	.	1.571685	0.20120	14.60	0.98854425506763832	0.47356	0.05780	0.11713	N	AEFBI	0.108367	0.21561	N	-0.883303962365444	0.11240	0.5413256	-1.17186497347375	0.06383	0.3071024	0.999515872561479	0.40117	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	4.87	-7.91	0.01031	-1.048000	0.03628	-5.727000	0.01616	-0.952000	0.02027	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1924:0.2527:0.3079:0.247	1.056	0.01491	813	0.42397	Receptor, ligand binding region	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.003788	0.07143	1118.45	82	chr1	6574913	.	C	T	1118.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.19;DP=263;ExcessHet=0;FS=1.847;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.64;ReadPosRankSum=-0.879;SOR=0.952	GT:AD:DP:GQ:PL	0/1:38,44:82:99:1129,0,832	6	0	1	0
chr1	10326244	10326244	G	C	exonic	KIF1B	.	nonsynonymous SNV	KIF1B:NM_015074:exon25:c.G2671C:p.E891Q,KIF1B:NM_001365951:exon27:c.G2809C:p.E937Q,KIF1B:NM_001365952:exon27:c.G2809C:p.E937Q	Pheochromocytoma, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.290	0.0482880192528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.841e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.37326	T	0.212	0.26549	T	0.989	0.62824	D	0.969	0.72001	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.765	0.45800	L	-0.82	0.75001	T	-1.39	0.36787	N	0.734	0.75009	-0.1696	0.78438	T	0.498	0.81014	T	10	0.6018709	0.66958	D	0.048288	0.63305	D	0.290	0.60924	0.219	0.14078	0.749556767029	0.74729	0.6982153262634863	0.69762	1.23630627734	0.81476	0.814065039158	0.84115	D	0.345935	0.71426	T	0.119299	0.66301	D	-0.0664114	0.65882	T	0.84802782535553	0.49996	D	0.984102	0.94582	D	0.2858203	0.51601	0.27822828	0.53781	0.2858203	0.51601	0.27822828	0.53780	-10.724	0.78968	D	.	.	0.374	0.62311	A	.;.;.;.;.	.;.;.;.;.	5.279577	0.88650	29.7	0.99699751426161221	0.80522	0.99370	0.95141	D	AEFGBI	0.891753	0.82802	D	0.588017507858634	0.72425	5.803883	0.669916851634812	0.80102	7.224664	0.999999999999494	0.74766	0.562547	0.31514	0	0.546412	0.12157	0	0.608884	0.39905	0	0.491896	0.07777	0	.	.	5.6	5.6	0.84997	9.602000	0.97623	11.794000	0.96459	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.620	0.95646	229	0.91079	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	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|1:114,32:146:99:0|1:10326244_G_C:142,0,3660:10326244	3	0	4	0
chr1	10461512	10461512	C	T	exonic	DFFA	.	nonsynonymous SNV	DFFA:NM_004401:exon6:c.G974A:p.R325Q	.	430	1090	2	0	0	2	0.00091659	.	.	.	706524	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.178	.	0.0003	0.00559105	0.0028	0.0004	0.0015	0.0335	0	6.247e-05	0.0035	0.0010	0.0025549	395	154602	rs140269107	0.0014	0.0014	0.0014	0.0015	0.0426	0.0014	0.0014	0.0409	0.0403	0.0007	0.0014	0	0.0426	0	0.0005	5.486e-05	0.0029	0.0011	0.0017	0.0017	0.0016	0.0018	0.0320	0.0015	0.0014	0.0281	0.0265	0.0008	0	0.0019	0	0.0320	0	0	8.822e-05	0.0057	0.0019	0.0	0.91255	D	0.0	0.92824	D	0.206	0.29860	B	0.022	0.19653	B	0.031240	0.01733	N	2.302060	1	0.08975	N	2.395	0.69210	M	.	.	.	-1.19	0.30346	N	0.096	0.07673	-0.9838	0.34116	T	0.067	0.27640	T	9	0.0036945045	0.00068	T	.	.	.	0.178	0.44724	.	.	0.272639205421	0.26888	0.2001635971352172	0.19933	0.399156638136	0.40951	0.250007003546	0.03768	T	0.051237	0.28823	T	-0.446513	0.01184	T	-0.37014	0.36871	T	0.0793014743208084	0.09897	T	0.649735	0.26051	T	0.10762776	0.25449	0.12082042	0.29156	0.10762776	0.25449	0.12082042	0.29155	-5.444	0.41340	T	.	.	0.103	0.18580	B	.	.	2.769186	0.36341	20.2	0.99585259835191531	0.73277	0.79534	0.39430	D	AEFBI	0.099339	0.19998	N	-0.574104841890009	0.19733	1.035144	-0.598164920486375	0.19541	1.048877	0.111165312747871	0.16652	0.744818	0.98587	0	0.702456	0.74545	0	0.732433	0.93434	0	0.714379	0.83352	0	.	.	5.28	2.42	0.28720	2.316000	0.43421	1.428000	0.26422	-0.237000	0.07570	0.996000	0.39380	0.656000	0.25990	0.496000	0.28927	0.0:0.7712:0.0:0.2288	9.322	0.37130	344	0.85734	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.07143	445.63	36	chr1	10461512	.	C	T	445.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.388;DP=209;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.38;ReadPosRankSum=-2.013;SOR=0.813	GT:AD:DP:GQ:PL	0/1:19,17:36:99:456,0,520	6	0	1	0
chr1	10660197	10660197	G	A	exonic	CASZ1	.	nonsynonymous SNV	CASZ1:NM_001079843:exon6:c.C845T:p.T282M,CASZ1:NM_017766:exon6:c.C845T:p.T282M	.	422	1056	40	4	0	48	0.0222222	.	.	.	718055	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.058	.	0.0059	0.00519169	0.0082	0.0015	0.0026	0.0004	0.0067	0.0100	0.0056	0.0135	0.0074837	1157	154602	rs61736951	0.0072	0.0072	0.0068	0.0076	0.0191	0.0071	0.0071	0.0162	0.0151	0.0019	0.0034	0.0160	0.0007	0.0055	0.0191	0.0069	0.0080	0.0150	0.0056	0.0056	0.0051	0.0061	0.0129	0.0053	0.0051	0.0103	0.0094	0.0012	0.0022	0.0059	0.0159	0.0006	0.0047	0.0136	0.0075	0.0090	0.0129	0.189	0.21224	T	0.107	0.37730	T	0.994	0.66517	D	0.669	0.53077	P	0.190046	0.16871	N	0.601187	0.996524	0.22987	N	0.345	0.11182	N	.	.	.	-0.63	0.19720	N	0.255	0.38129	-1.0558	0.12829	T	0.073	0.29675	T	9	0.004262656	0.00085	T	.	.	.	0.058	0.16647	.	.	0.117191471859	0.11215	0.11922760581229094	0.11849	.	.	0.504599630833	0.39469	T	0.201332	0.55919	T	-0.471224	0.00835	T	-0.43798	0.29036	T	0.0267151649434157	0.01504	T	0.822018	0.48145	T	0.041268017	0.06047	0.05852582	0.10829	0.043633867	0.06834	0.05852582	0.10828	-4.584	0.32184	T	.	.	0.086	0.15475	B	.;.	.;.	3.062232	0.41128	21.3	0.99763478845760645	0.85254	0.87686	0.47309	D	AEFBI	0.337971	0.43559	N	0.187735215576894	0.50610	3.249349	0.183295668271457	0.48932	3.102669	0.999283082583387	0.39007	0.646311	0.45356	0	0.653731	0.59785	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	4.38	4.38	0.52019	4.139000	0.57788	6.578000	0.55988	0.618000	0.50648	0.976000	0.34826	1.000000	0.68203	0.214000	0.22296	0.0:0.161:0.839:0.0	13.121	0.58746	777	0.48198	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.014602	0.010101	0.009511	0.011765	0.050000	0.017241	0.024390	0.018939	0.07143	545.53	43	chr1	10660197	.	G	A	545.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.11;DP=225;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=-0.512;SOR=0.616	GT:AD:DP:GQ:PL	0/1:23,20:43:99:556,0,547	6	0	1	0
chr1	13281633	13281633	A	G	exonic	PRAMEF8	.	nonsynonymous SNV	PRAMEF8:NM_001012276:exon4:c.T1163C:p.I388T	.	447	1068	7	0	0	7	0.00326645	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.0392094899584	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1261687327	0.0006	0.0006	0.0006	0.0007	0.0024	0.0006	0.0006	0.0022	0.0021	5.989e-05	8.956e-05	0	0	0	0.0017	0.0006	0.0006	0.0024	0.0004	0.0004	0.0004	0.0004	0.0021	0.0003	0.0003	0.0011	0.0008	7.507e-05	0	7.264e-05	0	0	0	0	0.0006	0.0026	0.0021	0.262	0.16466	T	0.205	0.27145	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.11	0.01224	T	-3.38	0.66780	D	0.289	0.34336	.	.	.	.	.	.	.	0.29297444	0.46873	T	.	.	.	.	.	.	.	0.186928172975	0.18263	0.36682660529706146	0.36596	.	.	0.565986931324	0.48111	T	0.100821	0.40699	T	0.0184342	0.54170	T	-0.211297	0.53571	T	.	.	.	.	.	.	0.0498263	0.08909	0.12004041	0.28972	0.0498263	0.08908	0.12004041	0.28971	-6.743	0.52133	T	.	.	0.537	0.66914	A	.;.;.	.;.;.	2.431563	0.31284	18.69	0.63082009607711964	0.07130	0.49232	0.28386	N	AEFI	0.058508	0.10982	N	.	.	.	.	.	.	6.82775468482763E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0414318	0.01019	1.56	1.56	0.22423	3.606000	0.53846	3.706000	0.39541	0.359000	0.20063	0.858000	0.30578	0.186000	0.23459	0.052000	0.15357	1.0:0.0:0.0:0.0	7.169	0.24883	.	.	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1686.63	134	chr1	13281633	.	A	G	1686.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.171;DP=318;ExcessHet=0;FS=33.886;MLEAC=1;MLEAF=0.071;MQ=34.99;MQRankSum=1.04;QD=12.59;ReadPosRankSum=0.004;SOR=0.471	GT:AD:DP:GQ:PL	0/1:65,69:134:99:1697,0,1536	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	0/1:70,20:90:99:118,0,1423	4	0	2	1
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	0/1:335,95:430:99:1915,0,9360	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	0/1:481,138:619:99:2231,0,12553	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	0/1:523,123:646:99:.:.:2480,0,18461:.	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	0/1:312,164:476:99:4138,0,10636	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	0/1:292,166:458:99:3535,0,9898	0	0	7	0
chr1	16569074	16569074	G	A	exonic	NBPF1	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.7e-05	.	0.0002	0.0005	0	0.0001	0	0.0001	0	0.0004	0.0001294	20	154602	rs374641830	0.0003	0.0003	0.0003	0.0002	0.0004	0.0003	0.0003	0.0003	0.0003	4.924e-05	0	0	4.52e-05	0	0	0.0004	6.549e-05	2.734e-05	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	0.0001	0.0001	0.0001	0.0003	0	0	0	0	0	0	0.0003	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	131.44	417	chr1	16569074	.	G	A	131.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.098;DP=800;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=45.48;MQRankSum=-3.122;QD=0.32;ReadPosRankSum=1.28;SOR=0.651	GT:AD:DP:GQ:PL	0/1:365,52:417:99:142,0,8782	6	0	1	0
chr1	16579293	16579293	A	G	exonic	NBPF1	.	unknown	UNKNOWN	.	529	584	394	15	0	424	0.266332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4770	0.4924	0.4777	0.4566	0.4691	0.4789	0.4718	0.4739	0.0008837	23	26028	rs4127114	2.64e-05	4.277e-05	2.622e-05	2.658e-05	0.0002	1.812e-05	1.531e-05	0.0001	7.808e-05	0.0002	0	4.461e-05	0.0002	0	0	1.524e-05	2.313e-05	0	0.0002	0.0007	0.0002	0.0002	0.0007	0.0001	0.0001	0.0002	0.0001	0.0003	0	7.295e-05	0	0.0002	0	0	0.0001	0	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.201754	0.190909	0.213499	0.135000	0.071429	0.254386	0.230469	0.197479	0.3571	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|1:30,6:36:99:0|1:16579293_A_G:162,0,1242:16579293	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|1:30,6:36:99:0|1:16579293_A_G:162,0,1242:16579293	2	0	5	0
chr1	16579305	16579305	G	A	exonic	NBPF1	.	unknown	UNKNOWN	.	547	597	363	15	0	393	0.247637	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4396	0.4635	0.4334	0.4429	0.4244	0.4403	0.4359	0.4340	0.0011142	29	26028	rs10907245	0.0016	0.0023	0.0015	0.0017	0.0061	0.0015	0.0015	0.0053	0.0050	0.0061	0.0009	0.0028	0.0005	0.0002	0.0027	0.0016	0.0013	0.0019	0.0040	0.0094	0.0041	0.0039	0.0113	0.0037	0.0036	0.0105	0.0101	0.0113	0	0.0013	0.0026	0.0004	9.697e-05	0	0.0016	0.0049	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.062183	0.039216	0.051247	0.070000	0.000000	0.098214	0.070866	0.060345	0.1429	239.07	36	chr1	16579305	.	G	A	239.07	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.98;DP=250;ExcessHet=0.3476;FS=77.097;MLEAC=2;MLEAF=0.143;MQ=35.88;MQRankSum=-0.133;QD=2.28;ReadPosRankSum=-0.772;SOR=5.667	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:31,5:36:99:0|1:16579305_G_A:101,0,1255:16579305	5	0	2	0
chr1	16579308	16579308	G	C	exonic	NBPF1	.	unknown	UNKNOWN	.	536	678	298	10	0	318	0.189964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4169	0.4635	0.4098	0.4442	0.3977	0.4141	0.4226	0.4033	0.0009605	25	26028	rs10796417	2.988e-06	0.0001	2.05e-06	3.875e-06	1.313e-05	8e-07	2.2e-07	.	.	0	0	4.366e-05	0	0	0	1.416e-06	0	1.313e-05	4.685e-05	0.0005	7.844e-05	1.371e-05	7.453e-05	2.144e-05	1.549e-05	2.876e-05	1.88e-05	0	0	6.652e-05	0.0003	0	0	0	7.453e-05	0	0	.	.	.	0.114	0.36765	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.06190	.	.	.	.	.	.	.	0.0018868446	0.00026	T	.	.	.	.	.	.	.	.	.	0.03536828552245914	0.03483	.	.	0.579951882362	0.50079	T	.	.	.	-0.382433	0.03007	T	-0.787115	0.02245	T	.	.	.	0.920308	0.71149	D	.	.	.	.	.	.	.	.	-9.586	0.71394	D	.	.	0.175	0.38372	B	.;.	.;.	1.521589	0.19533	14.31	0.3543343570932736	0.02223	0.00520	0.02423	N	AEFI	0.030698	0.03141	N	.	.	.	.	.	.	6.38433801032419E-4	0.07505	0.183328	0.03972	0	0.096583	0.02683	0	0.083675	0.02720	0	0.185264	0.04187	1	.	.	.	.	.	0.649000	0.24529	-0.171000	0.11226	0.423000	0.20817	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	.	.	.	445	0.79730	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.063613	0.029412	0.062500	0.055000	0.000000	0.098214	0.070866	0.068376	0.1429	239.07	36	chr1	16579308	.	G	C	239.07	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.425;DP=252;ExcessHet=0.3476;FS=77.097;MLEAC=2;MLEAF=0.143;MQ=35.98;MQRankSum=-0.133;QD=2.28;ReadPosRankSum=-0.438;SOR=5.667	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:31,5:36:99:0|1:16579305_G_A:101,0,1259:16579305	5	0	2	0
chr1	16585502	16585502	C	T	exonic	NBPF1	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.341e-05	0	0.0011	0	0	0	0	0	3.84e-05	1	26028	rs754793179	1.045e-06	3.595e-05	0	2.022e-06	1.527e-06	0	0	.	.	0	0	0	0	0	0	1.527e-06	0	0	1.313e-05	0.0002	1.284e-05	1.342e-05	0.0001	2.18e-06	8.2e-07	2.26e-05	9.07e-06	0	0	0.0001	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	74.27	32	chr1	16585502	.	C	T	74.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.149;DP=216;ExcessHet=0;FS=8.939;MLEAC=1;MLEAF=0.083;MQ=35.61;MQRankSum=-1.684;QD=2.32;ReadPosRankSum=1.51;SOR=3.003	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:28,4:32:84:0|1:16585502_C_T:84,0,1136:16585502	5	0	1	1
chr1	16585503	16585503	T	C	exonic	NBPF1	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00191162162936	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1355447859	0	1.83e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	1.313e-05	0.0002	1.284e-05	1.342e-05	0.0001	2.18e-06	8.2e-07	2.26e-05	9.07e-06	0	0	0.0001	0	0	0	0	0	0	0	.	.	.	0.319	0.20100	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.01577	.	.	.	.	.	.	.	0.08576754	0.14513	T	0.001912	0.03377	T	.	.	.	.	0.267299060538	0.26338	0.02248142032686762	0.02200	.	.	0.530114293098	0.43050	T	.	.	.	-0.439623	0.01300	T	-0.869265	0.00749	T	.	.	.	0.485151	0.14792	T	.	.	.	.	.	.	.	.	-5.967	0.46003	T	.	.	0.103	0.18456	B	.;.	.;.	-0.016046	0.04173	1.007	0.53083506645787271	0.04871	0.00098	0.00638	N	AEFI	0.032574	0.03706	N	.	.	.	.	.	.	1.01336842137827E-4	0.05123	0.322412	0.05557	0	0.244055	0.04846	0	0.175069	0.04249	0	0.370666	0.05837	0	.	.	.	.	.	-2.038000	0.01506	-0.902000	0.06987	-2.431000	0.00286	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	450	0.79359	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	74.27	32	chr1	16585503	.	T	C	74.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.45;DP=216;ExcessHet=0;FS=8.939;MLEAC=1;MLEAF=0.083;MQ=35.61;MQRankSum=-1.684;QD=2.32;ReadPosRankSum=1.51;SOR=3.003	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:28,4:32:84:0|1:16585502_C_T:84,0,1136:16585502	5	0	1	1
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	1/1:0,13:13:39:381,39,0	2	3	2	0
chr1	16760446	16760446	C	T	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon4:c.G383A:p.R128H	.	392	526	598	0	6	604	0.362424	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.397	.	.	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	0/1:123,18:141:99:245,0,3141	1	0	6	0
chr1	17228690	17228690	C	T	exonic	PADI1	.	stopgain	PADI1:NM_013358:exon7:c.C718T:p.R240X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	.	0.0001	0.0004	0	0.0001	0	0.0001	0	0.0001	0.0001164	18	154602	rs199756034	9.714e-05	9.713e-05	9.121e-05	0.0001	0.0003	8.377e-05	7.916e-05	0.0002	0.0001	0.0003	0	0.0001	2.519e-05	0	0	9.353e-05	9.935e-05	0.0002	0.0001	0.0001	0.0001	9.415e-05	0.0001	6.511e-05	5.322e-05	4.764e-05	3.338e-05	0.0001	0	0.0001	0	0	9.418e-05	0	0.0001	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000371	0.45194	D	0.156539	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.111	0.09772	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143248	0.68632	D	0.284145	0.87348	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	7.361045	0.96436	36	0.99687657107176353	0.79708	0.15835	0.19104	N	AEFDBI	0.044872	0.07272	N	0.272268073945642	0.54747	3.639645	-0.0461669625019176	0.37656	2.207791	0.185735816255245	0.17934	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.83	3.88	0.43959	0.507000	0.22383	0.347000	0.17439	0.596000	0.33519	0.026000	0.20160	0.020000	0.20764	0.143000	0.20056	0.1998:0.7:0.0:0.1002	5.894	0.18171	754	0.51307	Protein-arginine deiminase (PAD), central 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	.	.	.	.	.	.	.	.	0.07143	705.44	76	chr1	17228690	.	C	T	705.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.39;DP=274;ExcessHet=0;FS=3.097;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.28;ReadPosRankSum=0.083;SOR=0.699	GT:AD:DP:GQ:PL	0/1:41,35:76:99:716,0,866	6	0	1	0
chr1	19105073	19105073	G	A	exonic	UBR4	.	nonsynonymous SNV	UBR4:NM_020765:exon85:c.C12620T:p.P4207L	.	431	1085	6	0	0	6	0.00275735	.	.	.	2355704	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.335	0.0240312273225	0.0002	.	0.0002	0	8.642e-05	0	0	0.0003	0.0011	0.0006	0.000194	30	154602	rs148444542	0.0002	0.0002	0.0001	0.0002	0.0010	0.0001	0.0001	0.0007	0.0006	0	4.473e-05	0	0	0	0.0010	0.0001	0.0003	0.0008	0.0001	0.0001	0.0001	0.0001	0.0002	7.098e-05	5.753e-05	0.0001	9.902e-05	2.416e-05	0	6.549e-05	0	0	0	0	0.0002	0	0.0002	0.202	0.20230	T	.	.	.	0.998	0.73220	D	0.987	0.77487	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.285	0.32305	L	-0.05	0.63403	T	-2.35	0.51968	N	0.947	0.95491	-0.7310	0.58913	T	0.295	0.66650	T	10	0.71352094	0.73197	D	0.024031	0.47011	T	0.335	0.65718	.	.	0.253981072376	0.25009	0.724843149983118	0.72428	1.81973249962	0.91917	0.883346557617	0.94407	D	0.497407	0.81929	T	0.0471585	0.57975	T	0.201049	0.83184	D	0.230331629514694	0.21967	T	0.965203	0.87125	D	0.15293342	0.34691	0.2481625	0.50361	0.15293342	0.34690	0.2481625	0.50360	-4.21	0.26896	T	.	.	0.266	0.49997	B	.	.	4.445480	0.69058	25.3	0.99830323202053506	0.91198	0.99347	0.94827	D	AEFDBI	0.898847	0.84258	D	0.683604945614512	0.78559	6.895954	0.764090145960858	0.87208	9.142811	0.999999999977927	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	9.602000	0.97623	11.851000	0.98077	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.443	0.94824	917	0.20147	.	.	.	.	.	.	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	0.001511	0.005051	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	782.44	73	chr1	19105073	.	G	A	782.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.796;DP=254;ExcessHet=0;FS=4.744;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.72;ReadPosRankSum=1.85;SOR=1.329	GT:AD:DP:GQ:PL	0/1:42,31:73:99:793,0,1075	6	0	1	0
chr1	19164314	19164314	C	T	exonic	UBR4	.	nonsynonymous SNV	UBR4:NM_020765:exon33:c.G4639A:p.A1547T	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	0.0253352765496	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	.	.	.	0.993	0.65571	D	0.971	0.72444	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.935	0.51832	L	-0.3	0.67874	T	-2.79	0.65397	D	0.665	0.67391	-0.3281	0.74188	T	0.414	0.76157	T	10	0.48969483	0.60918	T	0.025335	0.48313	D	0.325	0.64725	0.336	0.32491	0.110392049598	0.10638	0.47334405582799405	0.47253	0.561454484372	0.52650	0.787430286407	0.80051	T	0.564212	0.85463	D	0.165022	0.70665	D	-0.000734061	0.70288	D	0.90873357406089	0.56341	D	0.974303	0.90829	D	0.31055447	0.53834	0.3525155	0.60828	0.31055447	0.53834	0.3525155	0.60827	-4.089	0.25128	T	.	.	0.469	0.63114	A	.;.	.;.	4.223573	0.63901	24.6	0.99911974898241873	0.98095	0.98702	0.85770	D	AEFBI	0.772165	0.70657	D	0.748542258922318	0.82808	7.855539	0.780987847867347	0.88440	9.583402	0.999999999999966	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.87	5.87	0.94266	7.288000	0.78051	7.632000	0.62779	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.818	0.96574	846	0.36215	.;.	.	.	.	.	.	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	993.63	93	chr1	19164314	.	C	T	993.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.447;DP=279;ExcessHet=0;FS=6.692;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.68;ReadPosRankSum=0.823;SOR=1.345	GT:AD:DP:GQ:PL	0/1:51,42:93:99:1004,0,1205	6	0	1	0
chr1	23437002	23437002	A	C	exonic	ASAP3	.	nonsynonymous SNV	ASAP3:NM_001143778:exon14:c.T1358G:p.I453S,ASAP3:NM_017707:exon15:c.T1385G:p.I462S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.611	0.178035052677	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.055e-06	2.052e-06	0	4.131e-06	0.0003	5.5e-07	1.5e-07	6.101e-05	2.525e-05	0	0	0	0	0	0.0003	0	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000211	0.47681	D	0.130163	1	0.81001	D	3.645	0.94141	H	0.79	0.49068	T	-5.4	0.85103	D	0.961	0.97095	-0.0568	0.81061	T	0.381	0.73759	T	10	0.9026201	0.89624	D	0.178035	0.85329	D	0.611	0.84773	0.685	0.82271	0.776415827642	0.77435	0.9545462357386822	0.95439	1.02274740666	0.75168	0.727809429169	0.71186	T	0.343619	0.71224	T	0.337735	0.85682	D	0.247357	0.85494	D	0.998827874660492	0.95280	D	.	.	.	0.9657808	0.97856	0.8644426	0.92483	0.9657808	0.97856	0.8644426	0.92484	-13.363	0.90803	D	.	.	0.938	0.85713	P	.;.	.;.	5.457753	0.91125	32	0.99482568035756247	0.66959	0.98757	0.86462	D	AEFDGBHCI	0.921087	0.89402	D	0.884282215831229	0.90969	10.652	0.789835465636361	0.89078	9.829544	0.999999999999327	0.74766	0.72623	0.87236	0	0.573888	0.26702	0	0.594344	0.31042	0	0.683762	0.67416	0	.	.	4.54	4.54	0.55220	9.317000	0.95419	10.826000	0.83861	0.573000	0.29008	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	1.0:0.0:0.0:0.0	13.131	0.58797	356	0.85138	Arf GTPase activating protein|Arf GTPase activating protein|Arf GTPase activating protein|Arf GTPase activating protein;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000505	0.000000	0.000000	0.000000	0.000000	0.000000	0.003067	0.000000	0.07143	441.44	45	chr1	23437002	.	A	C	441.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.026;DP=235;ExcessHet=0;FS=1.207;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.81;ReadPosRankSum=0.356;SOR=0.437	GT:AD:DP:GQ:PL	0/1:26,19:45:99:452,0,685	6	0	1	0
chr1	25392026	25392026	C	G	exonic	RHCE	.	nonsynonymous SNV	RHCE:NM_001330430:exon4:c.G602C:p.R201T,RHCE:NM_020485:exon4:c.G602C:p.R201T,RHCE:NM_138618:exon4:c.G602C:p.R201T	Rh-null disease, amorph type (3)	422	1071	27	2	0	31	0.014266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.00149342305908	0.0003	0.000599042	0.0002	0.0003	0	0	0	0.0002	0.0011	0.0003	0.000194	30	154602	rs141398055	0.0001	0.0002	0.0001	0.0002	0.0038	0.0001	0.0001	0.0026	0.0022	0.0005	8.945e-05	3.826e-05	2.519e-05	1.872e-05	0.0038	6.925e-05	0.0004	0.0008	0.0004	0.0006	0.0004	0.0003	0.0010	0.0003	0.0003	0.0008	0.0007	0.0010	0	0.0001	0	0.0002	0	0	0.0001	0.0005	0.0004	1.0	0.09236	T	0.511	0.11479	T	0.0	0.02946	B	0.002	0.06944	B	0.355312	0.04271	N	1.419120	1	0.08975	N	.	.	.	2.01	0.21291	T	1.28	0.01064	N	0.09	0.08366	-0.9463	0.41599	T	0.009	0.03403	T	10	0.011372298	0.00249	T	0.001493	0.02292	T	0.017	0.02790	.	.	0.0675242888579	0.06100	0.16438441148644187	0.16358	0.435991438937	0.43702	0.259397000074	0.04819	T	.	.	.	-0.53759	0.00346	T	-0.693831	0.06170	T	0.00728348726458671	0.00083	T	0.625137	0.24143	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.01367	B	.;.;.;.	.;.;.;.	-0.997177	0.00775	0.025	0.14596752121476211	0.00327	0.00226	0.01270	N	AEFBI	0.059444	0.11227	N	-1.99068234749651	0.00221	0.009494172	-1.98396137076601	0.00331	0.01461554	0.00356972976400403	0.10179	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	3.99	-7.76	0.01094	-0.843000	0.04457	-0.427000	0.09246	-0.729000	0.03740	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5986:0.2519:0.1494:0.0	6.936	0.23646	881	0.29269	Ammonium transporter AmtB-like domain;Ammonium transporter AmtB-like domain;Ammonium transporter AmtB-like domain;Ammonium transporter AmtB-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.005035	0.000000	0.002717	0.008772	0.000000	0.000000	0.006098	0.011364	0.2143	7063.72	197	chr1	25392026	.	C	G	7063.72	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-0.824;DP=657;ExcessHet=1.1394;FS=1.116;MLEAC=3;MLEAF=0.214;MQ=59.54;MQRankSum=-1.64;QD=14.1;ReadPosRankSum=0.75;SOR=0.772	GT:AD:DP:GQ:PL	0/1:85,112:197:99:2823,0,2082	4	0	3	0
chr1	26272022	26272022	T	C	exonic	CEP85	.	nonsynonymous SNV	CEP85:NM_001281518:exon4:c.T41C:p.I14T,CEP85:NM_001281517:exon10:c.T1592C:p.I531T,CEP85:NM_001319944:exon11:c.T1745C:p.I582T,CEP85:NM_022778:exon11:c.T1745C:p.I582T	.	.	.	.	.	.	.	.	0.0069	0.096	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.00634142751333	.	.	8.488e-06	0	0	0	0	1.531e-05	0	0	6.5e-06	1	154602	rs780464226	3.421e-06	3.42e-06	4.084e-06	2.75e-06	4.497e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.497e-06	0	0	6.57e-06	6.567e-06	1.285e-05	0	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.002	0.72154	D	0.007	0.69154	D	0.554	0.38213	P	0.218	0.37679	B	0.008182	0.30970	N	0.370114	0.684114	0.33262	D	2.295	0.65404	M	2.85	0.10578	T	-2.6	0.55983	D	0.579	0.60071	-1.0350	0.18857	T	0.027	0.11529	T	10	0.17525887	0.32448	T	0.006341	0.16668	T	0.049	0.13647	0.198	0.11110	0.284150004643	0.28039	0.12920489930440576	0.12845	0.241069569524	0.26640	0.417306423187	0.27466	T	0.07027	0.33919	T	-0.136054	0.30521	T	-0.433209	0.29570	T	0.928797245025635	0.59246	D	0.756024	0.39305	T	0.3743597	0.58905	0.25009215	0.50594	0.3743597	0.58906	0.25009215	0.50593	-0.701	0.00877	T	.	.	0.089	0.13969	B	.;.;.	.;.;.	3.939161	0.57625	23.9	0.99408098540331591	0.63122	0.97556	0.75524	D	AEFGBI	0.473171	0.51798	N	0.0166890683227944	0.42615	2.570976	0.118246061413308	0.45481	2.811	0.999999937815084	0.74766	0.706548	0.73137	0	0.615513	0.52658	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.47	4.33	0.51083	3.842000	0.55567	3.544000	0.39017	0.665000	0.62972	1.000000	0.71638	0.999000	0.35428	0.998000	0.85391	0.0:0.0736:0.0:0.9264	11.105	0.47416	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	.	.	.	.	.	.	.	.	0.07143	496.53	53	chr1	26272022	.	T	C	496.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.859;DP=230;ExcessHet=0;FS=1.047;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.37;ReadPosRankSum=0.802;SOR=0.518	GT:AD:DP:GQ:PL	0/1:28,25:53:99:507,0,627	6	0	1	0
chr1	26282357	26282367	CTGGGGCCGGG	0	exonic	UBXN11	.	.	.	.	386	373	210	27	526	790	0.261386	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5833	1231.95	21	chr1	26282357	.	CTGGGGCCGGG	*	1231.95	.	AC=7;AF=0.583;AN=12;DP=190;ExcessHet=0;FS=3.622;MLEAC=8;MLEAF=0.667;MQ=60;QD=8.99;SOR=1.052	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,9:21:99:0|1:26282270_C_T:859,501,474:26282270	1	2	3	1
chr1	26282374	26282376	ACC	0	exonic	UBXN11	.	.	.	.	400	608	276	45	193	559	0.231353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	3694.53	26	chr1	26282374	.	ACC	*	3694.53	.	AC=2;AF=0.2;AN=10;BaseQRankSum=0.23;DP=209;ExcessHet=0.7136;FS=6.668;MLEAC=2;MLEAF=0.2;MQ=60;MQRankSum=0;QD=21.23;ReadPosRankSum=0.296;SOR=0.34	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:14,12:26:99:0|1:26282270_C_T:462,0,545:26282270	3	0	2	2
chr1	26301709	26301709	G	A	exonic	UBXN11	.	nonsynonymous SNV	UBXN11:NM_001077262:exon3:c.C85T:p.R29C,UBXN11:NM_145345:exon4:c.C85T:p.R29C,UBXN11:NM_183008:exon4:c.C85T:p.R29C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.171	0.018849692101	.	.	8.467e-06	0	0	0	0	1.526e-05	0	0	6.5e-06	1	154602	rs762543495	4.036e-05	4.104e-05	4.629e-05	3.438e-05	8.961e-05	3.179e-05	2.911e-05	3.545e-05	3.205e-05	8.961e-05	0	0	0	1.872e-05	0	4.587e-05	4.969e-05	1.16e-05	2.629e-05	2.627e-05	2.57e-05	2.691e-05	7.242e-05	8.14e-06	5.14e-06	1.92e-05	1.032e-05	7.242e-05	0	0	0	0	0	0	1.47e-05	0	0	0.01	0.68238	D	0.001	0.83351	D	0.998	0.77913	D	0.736	0.58350	P	0.119350	0.19077	N	0.393532	0.999958	0.24763	N	1.95	0.52479	M	0.47	0.56114	T	-2.33	0.67241	N	0.267	0.33796	-0.9453	0.41764	T	0.182	0.53011	T	10	0.17514771	0.32431	T	0.01885	0.41045	T	0.171	0.43483	0.447	0.50629	0.626149575078	0.62310	0.26166867260145005	0.26079	0.585960603407	0.54216	0.355258882046	0.18694	T	0.084226	0.41493	T	-0.11111	0.34585	T	-0.289721	0.45801	T	0.76398903131485	0.44083	D	0.906909	0.68653	D	0.11186075	0.26430	0.08295126	0.18974	0.11186075	0.26430	0.08295126	0.18974	-5.314	0.43658	T	.	.	0.193	0.45641	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.463728	0.48288	22.6	0.99552363488810158	0.71211	0.30336	0.24056	N	AEFGBI	0.185948	0.31327	N	0.0147110890921664	0.42525	2.563802	-0.0641120694126213	0.36885	2.152415	0.997439328354303	0.35614	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.35	2.0	0.25495	1.702000	0.37455	2.720000	0.34304	0.676000	0.76740	1.000000	0.71638	0.999000	0.35428	0.876000	0.41813	0.0:0.0:0.4963:0.5037	9.058	0.35580	394	0.83065	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	621.83	52	chr1	26301709	.	G	A	621.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.944;DP=234;ExcessHet=0;FS=2.304;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=-0.055;SOR=0.433	GT:AD:DP:GQ:PL	0/1:25,27:52:99:632,0,538	6	0	1	0
chr1	29275715	29275715	G	T	exonic	PTPRU	.	nonsynonymous SNV	PTPRU:NM_001195001:exon8:c.G1412T:p.R471L,PTPRU:NM_005704:exon8:c.G1412T:p.R471L,PTPRU:NM_133177:exon8:c.G1412T:p.R471L,PTPRU:NM_133178:exon8:c.G1412T:p.R471L	.	433	1052	36	1	0	38	0.0177404	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.192	.	0.0052	0.00638978	0.0095	0.0008	0.0170	0.0013	0.0120	0.0086	0.0067	0.0172	0.0086092	1331	154602	rs35745442	0.0071	0.0071	0.0067	0.0074	0.0244	0.0069	0.0069	0.0212	0.0199	0.0010	0.0165	0.0105	0.0012	0.0125	0.0244	0.0057	0.0092	0.0177	0.0061	0.0061	0.0056	0.0067	0.0176	0.0058	0.0057	0.0146	0.0135	0.0009	0	0.0110	0.0098	0.0015	0.0133	0.0068	0.0065	0.0066	0.0176	0.166	0.24564	T	0.009	0.67890	D	0.912	0.53479	P	0.219	0.44178	B	0.000031	0.55875	D	0.069695	0.999525	0.47407	D	2.275	0.64647	M	0.64	0.52867	T	-4.39	0.77225	D	0.647	0.65844	-0.8413	0.52560	T	0.127	0.43380	T	9	0.009268105	0.00209	T	.	.	.	0.192	0.47115	.	.	0.24933006939	0.24537	0.6364288534790301	0.63576	0.72036751428	0.62177	0.577766299248	0.49771	T	0.327914	0.69838	T	-0.369222	0.03633	T	-0.289512	0.45823	T	0.0330116464804545	0.02473	T	0.987868	0.95886	D	0.38455072	0.59643	0.32482594	0.58403	0.38998896	0.60031	0.32482594	0.58402	-8.927	0.67704	D	.	.	0.231	0.46779	B	.;.;.;.	.;.;.;.	4.957788	0.81954	27.7	0.99732887324895736	0.82904	0.97459	0.74885	D	AEFBI	0.933729	0.92606	D	0.571116940105998	0.71377	5.641609	0.620875087269441	0.76457	6.494692	0.999927777652176	0.46280	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.579976	0.35079	0	.	.	5.4	5.4	0.77957	7.238000	0.77628	7.637000	0.63009	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	18.531	0.90944	371	0.84287	Fibronectin type III|Fibronectin type III|Fibronectin type III;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013595	0.015152	0.006793	0.023392	0.050000	0.008621	0.018293	0.015152	0.07143	771.63	47	chr1	29275715	.	G	T	771.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.247;DP=230;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.42;ReadPosRankSum=-0.412;SOR=0.859	GT:AD:DP:GQ:PL	0/1:19,28:47:99:782,0,470	6	0	1	0
chr1	32771244	32771244	G	A	exonic	KIAA1522	.	nonsynonymous SNV	KIAA1522:NM_001198972:exon6:c.G1888A:p.A630T,KIAA1522:NM_001369553:exon6:c.G1921A:p.A641T,KIAA1522:NM_020888:exon6:c.G2065A:p.A689T	.	406	1101	15	0	0	15	0.0067659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	.	0.0019	0.0157748	0.0086	0.0076	0.0002	0.0932	0.0012	0.0011	0.0056	0.0038	0.0075355	1165	154602	rs117872916	0.0032	0.0032	0.0031	0.0033	0.0792	0.0031	0.0031	0.0769	0.0759	0.0067	0.0003	0.0024	0.0792	0.0021	0.0030	0.0004	0.0045	0.0048	0.0053	0.0054	0.0047	0.0059	0.0908	0.0050	0.0049	0.0839	0.0811	0.0053	0	0.0012	0.0026	0.0908	0.0012	0	0.0007	0.0058	0.0057	0.422	0.09776	T	0.237	0.24621	T	0.0	0.02946	B	0.0	0.01387	B	0.274896	0.15056	N	0.492187	1	0.19781	N	0.345	0.11182	N	2.71	0.12055	T	-0.2	0.11008	N	0.062	0.05414	-0.9860	0.33590	T	0.001	0.00287	T	10	0.0017859936	0.00023	T	.	.	.	0.009	0.00846	.	.	0.196089822672	0.19227	0.1885308462771647	0.18771	0.113547634044	0.12816	0.317226052284	0.13000	T	0.002445	0.01836	T	-0.766764	0.00014	T	-0.796702	0.01986	T	3.34079086314887e-05	0.00000	T	0.535046	0.17917	T	0.026457611	0.01705	0.039930258	0.04200	0.026457611	0.01704	0.039930258	0.04200	-4.141	0.26577	T	.	.	0.064	0.01960	B	.;.;.	.;.;.	-1.056966	0.00693	0.020	0.55504421104957669	0.05356	0.03974	0.09385	N	AEFDBCI	0.062961	0.12137	N	-1.47517868184309	0.02026	0.08905271	-1.57036657309363	0.01839	0.08379932	0.999992884666669	0.74766	0.651	0.46895	0	0.588066	0.40923	0	0.26897	0.05253	2	0.683762	0.67416	0	.	.	3.64	-3.87	0.03939	-1.747000	0.01926	-1.928000	0.04482	-1.556000	0.00955	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4567:0.1257:0.2903:0.1273	2.183	0.03643	308	0.87611	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008560	0.000000	0.008152	0.008772	0.000000	0.000000	0.012195	0.018939	0.07143	631.45	55	chr1	32771244	.	G	A	631.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.657;DP=254;ExcessHet=0;FS=7.423;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.48;ReadPosRankSum=-0.059;SOR=0.897	GT:AD:DP:GQ:PL	0/1:28,27:55:99:642,0,619	6	0	1	0
chr1	33013400	33013400	-	ATGTC	exonic	AK2	.	frameshift insertion	AK2:NM_001319142:exon5:c.374_375insGACAT:p.I125Mfs*8,AK2:NM_001199199:exon6:c.476_477insGACAT:p.I159Mfs*8,AK2:NM_001319141:exon6:c.500_501insGACAT:p.I167Mfs*8,AK2:NM_001625:exon6:c.500_501insGACAT:p.I167Mfs*8,AK2:NM_013411:exon6:c.500_501insGACAT:p.I167Mfs*8,AK2:NM_001319139:exon7:c.356_357insGACAT:p.I119Mfs*8,AK2:NM_001319140:exon7:c.356_357insGACAT:p.I119Mfs*8	Reticular dysgenesis, Autosomal recessive	0	1503	14	0	5	19	0.00463576	.	.	.	1330892	Severe_combined_immunodeficiency_disease	Human_Phenotype_Ontology:HP:0004430,MONDO:MONDO:0015974,MeSH:D016511,MedGen:C0085110,Orphanet:183660	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.568e-05	0.0008	2.866e-05	4.277e-05	0.0003	2.771e-05	2.509e-05	0.0002	0.0001	0	0.0003	3.835e-05	0.0002	1.885e-05	0	1.983e-05	3.322e-05	5.817e-05	0	1.313e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	45.42	56	chr1	33013400	.	G	GATGTC	45.42	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.859;DP=247;ExcessHet=0;FS=1.905;MLEAC=1;MLEAF=0.071;MQ=59.9;MQRankSum=-4.513;QD=0.81;ReadPosRankSum=-3.479;SOR=1.193	GT:AD:DP:GQ:PL	0/1:51,5:56:56:56,0,2126	6	0	1	0
chr1	36086965	36086965	C	T	exonic	TEKT2	.	nonsynonymous SNV	TEKT2:NM_014466:exon6:c.C667T:p.R223W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.0155162695842	.	.	2.476e-05	0	0	0	0	4.505e-05	0	0	1.94e-05	3	154602	rs764463439	4.789e-06	4.788e-06	8.169e-06	1.375e-06	6.708e-05	1.99e-06	1.28e-06	1.779e-05	8.93e-06	2.987e-05	6.708e-05	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.009	0.66756	D	0.992	0.64738	D	0.638	0.52030	P	0.435866	0.12690	N	0.785106	0.788281	0.34353	D	2.05	0.56469	M	4.19	0.02716	T	-4.32	0.76655	D	0.388	0.42931	-1.0209	0.23421	T	0.021	0.09009	T	10	0.32329768	0.49669	T	0.015516	0.36297	T	0.131	0.35738	0.476	0.55342	0.202086224978	0.19791	0.48500456909152456	0.48420	0.388996708406	0.40150	0.20515230298	0.00622	T	0.324381	0.69520	T	-0.260128	0.12884	T	-0.435586	0.29302	T	0.873127996921539	0.52299	D	0.712229	0.32360	T	0.38991186	0.60026	0.43112573	0.66740	0.38991186	0.60026	0.43112573	0.66741	-8.462	0.64177	D	.	.	0.104	0.18828	B	.	.	4.228053	0.63999	24.6	0.99915931618305298	0.98379	0.96311	0.68520	D	AEFDBCIJ	0.732012	0.67891	D	0.436844451611095	0.63460	4.580217	0.436260715485473	0.63840	4.625868	0.999999895200266	0.74766	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	5.64	4.71	0.59010	2.360000	0.43805	1.882000	0.29459	0.599000	0.40250	0.226000	0.24601	0.910000	0.28117	0.972000	0.54974	0.1372:0.8628:0.0:0.0	15.788	0.78090	176	0.93188	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	950.44	79	chr1	36086965	.	C	T	950.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.55;DP=266;ExcessHet=0;FS=4.519;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.03;ReadPosRankSum=-0.193;SOR=1.272	GT:AD:DP:GQ:PL	0/1:44,35:79:99:961,0,1144	6	0	1	0
chr1	41382210	41382211	CA	-	exonic	FOXO6	.	frameshift deletion	FOXO6:NM_001291281:exon3:c.1009_1010del:p.Q337Gfs*39	.	632	828	31	5	26	67	0.0241603	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	.	.	.	.	.	.	.	0.00073	19	26028	rs373524987	0.0043	0.0026	0.0045	0.0042	0.0067	0.0042	0.0042	0.0046	0.0041	0.0037	0.0031	0.0057	0.0067	0	0.0037	0.0043	0.0050	0.0039	4.089e-05	0.0013	5.307e-05	2.803e-05	4.548e-05	1.768e-05	1.164e-05	1.207e-05	6.35e-06	0	0	0	0	0	0.0004	0	4.548e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	176.55	8	chr1	41382209	.	CCA	C	176.55	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.15;DP=66;ExcessHet=0.4139;FS=2.671;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.81;ReadPosRankSum=-0.189;SOR=2.11	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:5,3:8:99:0|1:41382209_CCA_C:111,0,201:41382209	5	0	1	1
chr1	41382212	41382212	-	GGAC	exonic	FOXO6	.	frameshift insertion	FOXO6:NM_001291281:exon3:c.1011_1012insGGAC:p.A338Gfs*40	.	580	911	21	4	6	35	0.0156672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00073	19	26028	.	0.0043	0.0026	0.0045	0.0042	0.0068	0.0042	0.0042	0.0048	0.0041	0.0038	0.0030	0.0057	0.0068	0	0.0037	0.0043	0.0048	0.0039	4.088e-05	0.0009	5.306e-05	2.803e-05	4.548e-05	1.768e-05	1.164e-05	1.207e-05	6.35e-06	0	0	0	0	0	0.0004	0	4.548e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	101.34	8	chr1	41382212	.	G	GGGAC	101.34	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.53;DP=86;ExcessHet=0;FS=3.332;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.67;ReadPosRankSum=-0.566;SOR=2.303	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:5,3:8:99:0|1:41382209_CCA_C:111,0,201:41382209	5	0	1	1
chr1	45654718	45654718	C	T	exonic	GPBP1L1	.	nonsynonymous SNV	GPBP1L1:NM_021639:exon6:c.G302A:p.R101Q	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.209	0.0198970327611	7.7e-05	.	8.241e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs375143538	5.472e-06	5.472e-06	5.445e-06	5.5e-06	1.159e-05	2.35e-06	1.7e-06	2.62e-06	1.68e-06	0	0	0	0	0	0	6.295e-06	0	1.159e-05	1.314e-05	1.313e-05	1.285e-05	1.345e-05	2.413e-05	2.18e-06	8.2e-07	.	.	2.413e-05	0	0	0	0	0	0	1.47e-05	0	0	0.047	0.40319	D	0.073	0.43159	T	0.948	0.53620	P	0.24	0.38599	B	0.000001	0.84330	N	0.057315	0.818876	0.34746	D	1.555	0.39373	L	0.81	0.48460	T	-2.07	0.47344	N	0.802	0.80572	-0.9090	0.46977	T	0.097	0.36367	T	10	0.55694276	0.64570	D	0.019897	0.42377	T	0.209	0.49871	.	.	0.247322355667	0.24350	0.29186886791327765	0.29099	0.421861651622	0.42694	0.559733510017	0.47231	T	0.080284	0.36327	T	-0.107981	0.35101	T	-0.29603	0.45141	T	0.764898180961609	0.44136	D	0.914409	0.69449	D	0.18706131	0.40143	0.14322308	0.34045	0.18706131	0.40143	0.14322308	0.34044	-4.454	0.30283	T	.	.	0.136	0.29588	B	.;.	.;.	4.288006	0.65375	24.8	0.99890963468671801	0.96513	0.98112	0.79700	D	AEFGBI	0.631781	0.61263	D	0.168458292903732	0.49689	3.166461	0.158262377557187	0.47582	2.986243	0.569994898969934	0.21484	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.95	0.97	0.18811	7.300000	0.78169	4.730000	0.44549	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:0.6906:0.0:0.3094	10.472	0.43826	205	0.92010	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	2589.03	88	chr1	45654718	.	C	T	2589.03	.	AC=2;AF=0.143;AN=14;DP=262;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=29.42;SOR=0.941	GT:AD:DP:GQ:PL	1/1:0,88:88:99:2609,264,0	6	1	0	0
chr1	52237776	52237776	A	G	exonic	ZFYVE9	.	nonsynonymous SNV	ZFYVE9:NM_004799:exon4:c.A359G:p.Y120C,ZFYVE9:NM_007324:exon4:c.A359G:p.Y120C	.	435	1062	24	1	0	26	0.012093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	.	0.0034	0.00419329	0.0054	0.0011	0.0026	0	0.0107	0.0061	0.0022	0.0084	0.0050776	785	154602	rs61753387	0.0052	0.0052	0.0050	0.0053	0.0113	0.0051	0.0050	0.0091	0.0083	0.0007	0.0035	0.0026	5.038e-05	0.0090	0.0113	0.0052	0.0047	0.0087	0.0047	0.0047	0.0041	0.0053	0.0078	0.0044	0.0043	0.0067	0.0063	0.0008	0	0.0078	0.0023	0.0002	0.0107	0.0136	0.0058	0.0043	0.0060	0.116	0.28395	T	0.178	0.29639	T	0.0	0.07471	B	0.0	0.04355	B	0.041672	0.23924	N	0.388583	0.914131	0.27442	N	0.345	0.11182	N	1.19	0.37910	T	-0.83	0.25551	N	0.081	0.13484	-1.0726	0.08851	T	0.044	0.18948	T	10	0.002798617	0.00044	T	.	.	.	0.034	0.08419	.	.	0.043077524339	0.03247	0.1217509137701063	0.12102	0.130914650976	0.14767	0.244946539402	0.03254	T	0.004385	0.03788	T	-0.650764	0.00072	T	-0.702708	0.05679	T	0.00546131305428539	0.00059	T	0.758824	0.38273	T	0.07316915	0.16330	0.036688607	0.03167	0.07316915	0.16330	0.036688607	0.03166	-2.519	0.05919	T	.	.	0.059	0.01534	B	.;.;.	.;.;.	1.296858	0.16982	12.89	0.96653184260730485	0.30596	0.17813	0.19998	N	ALL	0.065334	0.12738	N	-0.364802047348325	0.26731	1.461174	-0.148266243651583	0.33474	1.915228	0.999999999999999	0.74766	0.75658	0.98901	0	0.624146	0.53433	0	0.709663	0.75317	0	0.656636	0.63459	0	.	.	5.77	4.79	0.60909	0.764000	0.26197	2.426000	0.32709	-0.041000	0.17446	0.992000	0.37556	1.000000	0.68203	0.911000	0.44643	0.1689:0.0:0.8311:0.0	6.756	0.22703	335	0.86220	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013595	0.000000	0.013587	0.008772	0.000000	0.008621	0.030488	0.011364	0.1429	2843.27	90	chr1	52237776	.	A	G	2843.27	.	AC=2;AF=0.143;AN=14;DP=276;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=31.59;SOR=0.99	GT:AD:DP:GQ:PL	1/1:0,90:90:99:2864,270,0	6	1	0	0
chr1	53327839	53327839	T	0	exonic	LRP8	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	2609.59	12	chr1	53327839	.	T	*	2609.59	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1;DP=148;ExcessHet=0.4139;FS=3.485;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=21.22;ReadPosRankSum=-0.091;SOR=1.168	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,4:12:99:1|0:53327838_CTG_C:689,259,310:53327838	4	0	2	1
chr1	84479292	84479292	C	T	exonic	RPF1	.	nonsynonymous SNV	RPF1:NM_025065:exon1:c.C11T:p.A4V	.	420	1058	43	1	0	45	0.0208237	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	.	0.0032	0.00938498	0.0077	0.0012	0.0048	0.0002	0.0090	0.0052	0.0093	0.0290	0.0062742	970	154602	rs145776320	0.0050	0.0050	0.0044	0.0056	0.0233	0.0049	0.0049	0.0224	0.0221	0.0006	0.0030	0.0019	2.534e-05	0.0087	0.0092	0.0038	0.0051	0.0233	0.0047	0.0047	0.0041	0.0053	0.0236	0.0044	0.0043	0.0201	0.0188	0.0006	0.0504	0.0048	0.0023	0	0.0094	0.0238	0.0048	0.0066	0.0236	0.033	0.44358	D	0.166	0.30828	T	0.0	0.02946	B	0.0	0.01387	B	0.250852	0.15513	N	0.659654	1	0.08975	N	0	0.06538	N	0.76	0.49919	T	-0.57	0.17210	N	0.162	0.19055	-1.0719	0.09001	T	0.025	0.10821	T	10	0.003259182	0.00056	T	.	.	.	0.096	0.27654	.	.	0.680047386688	0.67732	0.22224660766402687	0.22139	0.12998121625	0.14663	0.343664884567	0.16985	T	0.009167	0.08364	T	-0.532343	0.00372	T	-0.521194	0.20173	T	0.00951397986744732	0.00123	T	0.462454	0.13627	T	0.043112393	0.06663	0.059958003	0.11339	0.043112393	0.06662	0.059958003	0.11338	-4.719	0.33634	T	.	.	0.111	0.22391	B	.;.	.;.	1.868132	0.23728	16.13	0.99085465745944101	0.52075	0.18007	0.20080	N	ALL	0.089110	0.18063	N	-0.735227874754794	0.15036	0.7543253	-0.652024510879595	0.18165	0.9692089	0.999999999999662	0.74766	0.468429	0.09910	2	0.504199	0.08210	0	0.504199	0.09095	0	0.372554	0.06265	0	.	.	6.08	4.17	0.48303	-0.126000	0.10539	0.504000	0.19021	0.597000	0.34315	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.1265:0.5625:0.2247:0.0863	4.393	0.10780	636	0.64483	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010081	0.000000	0.010870	0.002924	0.000000	0.000000	0.021472	0.018939	0.07143	143.53	16	chr1	84479292	.	C	T	143.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.408;DP=180;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.97;ReadPosRankSum=-1.634;SOR=0.527	GT:AD:DP:GQ:PL	0/1:10,6:16:99:154,0,297	6	0	1	0
chr1	85158755	85158755	A	G	exonic	SYDE2	.	nonsynonymous SNV	SYDE2:NM_032184:exon7:c.T3580C:p.F1194L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.00654077122755	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.59e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.23905	T	0.034	0.52727	D	0.0	0.02946	B	0.0	0.01387	B	0.089341	0.20432	N	0.527396	0.998858	0.21853	N	0	0.06538	N	3.28	0.06523	T	1.02	0.01369	N	0.042	0.01498	-0.9316	0.43903	T	0.002	0.00615	T	10	0.023369968	0.00610	T	0.006541	0.17243	T	0.020	0.03691	0.21	0.12781	0.0551355673512	0.04727	0.06610387111215123	0.06549	0.14237696093	0.16047	0.397826164961	0.24766	T	0.004802	0.04217	T	-0.355873	0.04369	T	-0.748963	0.03526	T	0.219421803951263	0.21435	T	0.513449	0.16474	T	0.053474132	0.10124	0.045122	0.05999	0.053474132	0.10124	0.045122	0.05999	-2.743	0.07671	T	.	.	0.392	0.59120	A	.	.	2.506013	0.32358	19.02	0.99124857947199441	0.53089	0.82995	0.42152	D	AEFGBI	0.191288	0.31849	N	-0.773932366158561	0.13992	0.6934386	-0.537640718649593	0.21134	1.141888	0.0731348463355377	0.15624	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.97	2.91	0.32903	2.498000	0.45023	3.315000	0.37496	-0.114000	0.14653	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.3343:0.3872:0.1116:0.1669	1.797	0.02879	676	0.60355	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2143	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|1:26,5:31:21:0|1:85158755_A_G:21,0,746:85158755	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|1:26,5:31:21:0|1:85158755_A_G:21,0,746:85158755	1	0	5	1
chr1	89120195	89120195	C	T	exonic	GBP2	.	nonsynonymous SNV	GBP2:NM_004120:exon4:c.G412A:p.A138T	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.472	.	0.0012	0.000998403	0.0018	0.0003	0.0003	0	0.0138	0.0015	0.0011	0.0012	0.0015977	247	154602	rs138509928	0.0015	0.0015	0.0015	0.0016	0.0016	0.0015	0.0015	0.0012	0.0012	0.0002	0.0007	0.0001	0	0.0111	0.0016	0.0013	0.0013	0.0010	0.0016	0.0016	0.0012	0.0021	0.0014	0.0014	0.0014	0.0012	0.0011	0.0001	0	0.0003	0.0003	0.0002	0.0121	0	0.0014	0.0014	0.0012	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.997	0.86255	D	0.000700	0.42383	U	0.091160	0.776409	0.34213	D	3.96	0.96509	H	-1.09	0.77206	T	-3.71	0.70674	D	0.558	0.58287	0.471	0.90140	D	0.635	0.87207	D	10	0.0233365	0.00608	T	.	.	.	0.472	0.76554	.	.	0.945805394361	0.94524	0.5026369878473099	0.50185	0.488276187908	0.47633	0.480822861195	0.36170	T	0.702388	0.91442	D	-0.272142	0.11518	T	-0.169856	0.57457	T	0.140860816109978	0.16350	T	0.989768	0.96706	D	0.70123845	0.78124	0.8065988	0.88684	0.70123845	0.78126	0.8065988	0.88685	-9.419	0.70354	D	.	.	0.361	0.57286	A	.	.	4.398329	0.67932	25.2	0.99889628639260231	0.96436	0.89626	0.50211	D	AEFBI	0.542977	0.55849	D	0.771508424856484	0.84298	8.248556	0.64569111548822	0.78289	6.846605	0.995990020862223	0.34457	0.706548	0.73137	0	0.659464	0.62310	0	0.547309	0.15389	0	0.714379	0.83352	0	.	.	3.62	3.62	0.40616	5.827000	0.68989	1.611000	0.27635	-0.185000	0.09859	1.000000	0.71638	0.838000	0.27274	0.269000	0.23743	0.0:1.0:0.0:0.0	13.227	0.59349	708	0.56926	Guanylate-binding protein, N-terminal|GB1/RHD3-type guanine nucleotide-binding (G) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	811.44	86	chr1	89120195	.	C	T	811.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.043;DP=268;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.44;ReadPosRankSum=0.337;SOR=0.752	GT:AD:DP:GQ:PL	0/1:50,36:86:99:822,0,1215	6	0	1	0
chr1	92291432	92291432	C	T	exonic	GLMN	.	nonsynonymous SNV	GLMN:NM_001319683:exon4:c.G271A:p.D91N,GLMN:NM_053274:exon4:c.G271A:p.D91N	Glomuvenous malformations, Autosomal dominant	2	1456	62	2	0	66	0.0221625	.	.	.	281879	GLMN-related_disorder|not_specified|not_provided|Glomuvenous_malformation	.|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0007672,MedGen:C1841984,OMIM:138000,Orphanet:83454	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.107	.	0.0014	0.00399361	0.0043	0.0007	0.0023	0	0.0006	0.0026	0.01	0.0185	0.0037645	582	154602	rs144577963	0.0024	0.0025	0.0018	0.0031	0.0196	0.0024	0.0023	0.0188	0.0185	0.0008	0.0016	0.0115	5.062e-05	0.0003	0.0167	0.0010	0.0041	0.0196	0.0017	0.0017	0.0016	0.0018	0.0180	0.0015	0.0015	0.0150	0.0138	0.0007	0	0.0016	0.0112	0	9.439e-05	0.0136	0.0010	0.0033	0.0180	0.59	0.05808	T	0.626	0.07292	T	0.92	0.51019	P	0.652	0.52532	P	0.004104	0.34102	N	0.361905	0.995118	0.42550	D	1.27	0.32069	L	0.99	0.41750	T	0.1	0.05810	N	0.206	0.22870	-1.0460	0.15534	T	0.071	0.28969	T	10	0.007840723	0.00178	T	.	.	.	0.107	0.30369	.	.	0.741568591866	0.73925	0.12471307705419836	0.12397	0.140332092331	0.15827	0.491998851299	0.37715	T	0.006118	0.05559	T	-0.573299	0.00211	T	-0.580685	0.14484	T	0.0164571894811833	0.00411	T	0.782822	0.41925	T	0.08475475	0.19631	0.06132504	0.11821	0.08909026	0.20803	0.059703197	0.11248	-4.169	0.26301	T	0.16518105712076733	0.20460	0.099	0.16670	B	.	.	3.129037	0.42274	21.5	0.9978606915748448	0.87219	0.61917	0.31625	D	AEFDGBHCI	0.140246	0.26209	N	0.126214685035754	0.47687	2.991044	0.138291058977657	0.46526	2.89707	0.999371870790072	0.39355	0.656854	0.48797	0	0.382747	0.06278	2	0.67347	0.61138	0	0.636	0.56748	0	.	.	5.86	4.93	0.64394	1.528000	0.35592	4.928000	0.46104	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:0.7861:0.138:0.0759	9.76	0.39694	590	0.68897	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.009567	0.010101	0.002717	0.000000	0.000000	0.008621	0.009146	0.026515	0.07143	345.49	40	chr1	92291432	.	C	T	345.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.908;DP=215;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.64;ReadPosRankSum=1.06;SOR=0.675	GT:AD:DP:GQ:PL	0/1:25,15:40:99:356,0,615	6	0	1	0
chr1	108699670	108699670	A	G	exonic	PRPF38B	.	nonsynonymous SNV	PRPF38B:NM_001349762:exon6:c.A856G:p.R286G,PRPF38B:NM_001349764:exon6:c.A745G:p.R249G,PRPF38B:NM_001349765:exon6:c.A745G:p.R249G,PRPF38B:NM_018061:exon6:c.A1291G:p.R431G,PRPF38B:NM_001349757:exon7:c.A958G:p.R320G,PRPF38B:NM_001349759:exon7:c.A739G:p.R247G,PRPF38B:NM_001349761:exon7:c.A856G:p.R286G,PRPF38B:NM_001349763:exon7:c.A745G:p.R249G,PRPF38B:NM_001349766:exon7:c.A700G:p.R234G,PRPF38B:NM_001349768:exon7:c.A700G:p.R234G,PRPF38B:NM_001349771:exon7:c.A700G:p.R234G,PRPF38B:NM_001349758:exon8:c.A739G:p.R247G,PRPF38B:NM_001349767:exon8:c.A700G:p.R234G,PRPF38B:NM_001349769:exon8:c.A700G:p.R234G,PRPF38B:NM_001349770:exon8:c.A700G:p.R234G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.0094976611034	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1333090797	2.789e-06	2.736e-06	2.766e-06	2.812e-06	3.643e-06	6.5e-07	4.4e-07	8.5e-07	5.8e-07	0	0	0	0	0	0	3.643e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.012	0.63918	D	0.608	0.39540	P	0.109	0.31370	B	0.000000	0.84330	D	0.047799	0.999546	0.47497	D	1.445	0.36358	L	1.54	0.30133	T	-1.19	0.30964	N	0.465	0.50146	-1.0824	0.06890	T	0.025	0.10509	T	10	0.18542674	0.33963	T	0.009498	0.24878	T	0.126	0.34673	0.233	0.16155	0.102598925029	0.09809	0.13584877619433222	0.13508	0.324506436646	0.34611	0.773700296879	0.77978	T	0.027396	0.20072	T	-0.0897604	0.38117	T	-0.366711	0.37273	T	0.471783941756418	0.31596	T	0.893911	0.63238	D	0.29834154	0.52756	0.25666067	0.51369	0.29834154	0.52756	0.25666067	0.51368	-5.989	0.46188	T	.	.	0.376	0.67727	A	.;.	.;.	3.697066	0.52706	23.3	0.9890052504588045	0.48181	0.96070	0.67396	D	AEFDBCI	0.837058	0.75474	D	0.124879219480205	0.47625	2.985627	0.27487959654311	0.54075	3.573829	0.999999418026947	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.56	5.56	0.83678	4.702000	0.61504	5.331000	0.48318	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.8636:0.1363:0.0:0.0	12.778	0.56838	800	0.44535	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	426.53	31	chr1	108699670	.	A	G	426.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.63;DP=191;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.76;ReadPosRankSum=-1.132;SOR=0.558	GT:AD:DP:GQ:PL	0/1:14,17:31:99:437,0,387	6	0	1	0
chr1	109266137	109266137	G	A	exonic	CELSR2	.	nonsynonymous SNV	CELSR2:NM_001408:exon15:c.G5944A:p.A1982T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.387	0.0520591968808	.	.	8.257e-06	0	0	0	0	1.502e-05	0	0	6.5e-06	1	154602	rs752119946	4.789e-06	4.788e-06	4.084e-06	5.501e-06	4.472e-05	1.99e-06	1.28e-06	7.41e-06	2.77e-06	0	4.472e-05	0	0	0	0	2.698e-06	3.311e-05	0	1.971e-05	1.97e-05	1.285e-05	2.69e-05	0.0002	5.24e-06	2.45e-06	5.285e-05	2.835e-05	0	0	0.0002	0	0	0	0	0	0	0	0.023	0.48186	D	0.008	0.67890	D	0.98	0.59353	D	0.851	0.60700	P	.	.	.	.	1	0.81001	D	2.64	0.77224	M	-0.35	0.68616	T	-2.19	0.49352	N	0.758	0.75650	-0.2194	0.77167	T	0.395	0.74793	T	9	0.6759528	0.70992	D	0.052059	0.64915	D	0.387	0.70358	0.562	0.68229	0.683234361809	0.68053	0.5218924882670097	0.52112	1.07742525153	0.77023	0.741327047348	0.73168	T	0.249503	0.61947	T	0.0777749	0.61778	D	-0.0431929	0.67486	D	0.765989863585337	0.44201	D	0.89791	0.64303	D	0.13508305	0.31363	0.21084028	0.45487	0.13508305	0.31363	0.21084028	0.45486	-8.16	0.62155	D	0.3822524979993107	0.47652	0.188	0.40586	B	.	.	4.684015	0.74992	26.3	0.99927267662097252	0.99163	0.99044	0.90407	D	AEFBI	0.713356	0.66619	D	0.651685800930348	0.76479	6.493932	0.594758322497304	0.74561	6.158366	0.999999999999994	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.562822	0.20929	0	.	.	4.6	4.6	0.56512	6.588000	0.73964	9.870000	0.82121	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	17.607	0.87943	792	0.45996	GPCR, family 2, extracellular hormone receptor domain|GPCR, family 2, extracellular hormone receptor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	463.44	38	chr1	109266137	.	G	A	463.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.189;DP=229;ExcessHet=0;FS=2.873;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.2;ReadPosRankSum=-0.614;SOR=1.014	GT:AD:DP:GQ:PL	0/1:18,20:38:99:474,0,399	6	0	1	0
chr1	109508616	109508616	G	C	exonic	AMIGO1	.	nonsynonymous SNV	AMIGO1:NM_020703:exon2:c.C297G:p.N99K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00471979587979	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.402e-05	0.0008	2.459e-05	2.345e-05	0.0002	1.744e-05	1.544e-05	2.006e-05	1.747e-05	5.989e-05	0	0	0	0	0.0002	2.799e-05	1.66e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.50676	D	0.096	0.39340	T	0.375	0.34209	B	0.25	0.39011	B	0.023848	0.26367	N	0.283710	0.989351	0.40936	D	-0.805	0.01590	N	4.38	0.02255	T	-0.42	0.14193	N	0.251	0.32481	-0.9074	0.47168	T	0.002	0.00526	T	10	0.13895068	0.26423	T	0.00472	0.11753	T	0.048	0.13305	0.424	0.46857	0.303871581278	0.30001	0.3848348631254194	0.38398	1.20472787136	0.80666	0.608450233936	0.54097	T	0.010575	0.09538	T	-0.290714	0.09565	T	-0.655367	0.08582	T	0.544324159622192	0.34265	D	0.79742	0.44137	T	0.08433104	0.19514	0.09508742	0.22536	0.08433104	0.19513	0.09508742	0.22536	-4.691	0.33295	T	.	.	0.266	0.50527	B	.;.	.;.	1.875938	0.23830	16.17	0.98865697297219557	0.47545	0.82763	0.41947	D	AEFBCI	0.391245	0.46976	N	-0.506877925592794	0.21857	1.163021	-0.39326206815582	0.25196	1.384239	0.905472008325259	0.26205	0.676563	0.55306	0	0.610034	0.51514	0	0.673471	0.61138	0	0.579976	0.35079	0	.	.	4.99	1.09	0.19517	1.118000	0.30860	3.404000	0.38147	0.676000	0.76740	0.809000	0.29839	1.000000	0.68203	1.000000	0.97212	0.304:0.0:0.696:0.0	9.065	0.35621	615	0.66512	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3	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|1:53,5:58:14:0|1:109508616_G_C:14,0,2176:109508616	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|1:54,5:59:11:0|1:109508616_G_C:11,0,2183:109508616	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|1:55,5:60:9:0|1:109508616_G_C:9,0,2190:109508616	4	0	2	1
chr1	110341408	110341408	C	T	exonic	RBM15	.	nonsynonymous SNV	RBM15:NM_001201545:exon1:c.C2003T:p.A668V,RBM15:NM_022768:exon1:c.C2003T:p.A668V	Megakaryoblastic leukemia, acute	422	1039	57	4	0	65	0.0303313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	0.0048	0.00559105	0.0061	0.0010	0.0040	0	0.0030	0.0067	0.0077	0.0129	0.0059572	921	154602	rs150900331	0.0060	0.0060	0.0056	0.0064	0.0229	0.0059	0.0058	0.0197	0.0185	0.0011	0.0042	0.0147	0	0.0034	0.0229	0.0056	0.0073	0.0127	0.0051	0.0051	0.0049	0.0052	0.0137	0.0048	0.0046	0.0110	0.0101	0.0009	0.0033	0.0054	0.0124	0.0002	0.0031	0.0238	0.0071	0.0076	0.0137	0.117	0.28271	T	0.312	0.19599	T	0.0	0.02946	B	0.0	0.01387	B	0.494839	0.12016	N	0.710757	1	0.08975	N	0.345	0.11182	N	2.2	0.18570	T	-1.7	0.40468	N	0.055	0.03175	-0.9287	0.44328	T	0.009	0.03227	T	10	0.0030899048	0.00051	T	.	.	.	0.027	0.05988	.	.	0.117191471859	0.11215	0.2182879860972043	0.21744	0.713490700197	0.61819	0.405892670155	0.25888	T	0.297953	0.67053	T	-0.665341	0.00058	T	-0.717462	0.04919	T	0.00200101687308719	0.00021	T	0.679332	0.28809	T	0.04694136	0.07941	0.08194425	0.18665	0.04694136	0.07941	0.08194425	0.18664	-4.584	0.32322	T	.	.	0.073	0.08272	B	.;.;.;.;.	.;.;.;.;.	1.796698	0.22840	15.78	0.95988238114539981	0.28380	0.33658	0.24881	N	ALL	0.181846	0.30916	N	-1.0320615013265	0.07945	0.3707962	-0.968512324056755	0.10497	0.529055	0.999999987827702	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.685571	0.62057	0	0.662433	0.64102	0	.	.	4.87	0.956	0.18731	0.682000	0.25015	0.428000	0.18294	-0.182000	0.10109	0.001000	0.13787	0.031000	0.21272	0.986000	0.61781	0.0:0.6211:0.0:0.3789	8.347	0.31441	872	0.31118	.;.;.;.;.	LAMTOR5	Skin_Not_Sun_Exposed_Suprapubic	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.022155	0.015152	0.021739	0.008772	0.150000	0.025862	0.024390	0.026515	0.2143	4546.05	106	chr1	110341408	.	C	T	4546.05	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-0.583;DP=526;ExcessHet=1.1394;FS=0;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=11.75;ReadPosRankSum=-0.839;SOR=0.704	GT:AD:DP:GQ:PL	0/1:52,54:106:99:1381,0,1384	4	0	3	0
chr1	112913901	112913901	C	G	exonic	SLC16A1	.	nonsynonymous SNV	SLC16A1:NM_001166496:exon5:c.G1493C:p.S498T,SLC16A1:NM_003051:exon5:c.G1493C:p.S498T	Erythrocyte lactate transporter defect, Autosomal dominant;Hyperinsulinemic hypoglycemia, familial, 7, Autosomal dominant;Monocarboxylate transporter 1 deficiency, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.00694427549183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.514e-05	0.0014	1.781e-05	1.244e-05	1.721e-05	9.91e-06	8.47e-06	1.101e-05	8.87e-06	0	0	0	0	0	0	1.721e-05	3.328e-05	1.162e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.406	0.10278	T	0.345	0.17750	T	0.019	0.17989	B	0.006	0.12133	B	0.000194	0.00507	N	3.613670	0.514651	0.31619	N	0.55	0.14455	N	1.89	0.23688	T	0.05	0.06369	N	0.31	0.34981	-0.9605	0.39087	T	0.016	0.06377	T	10	0.06500685	0.08706	T	0.006944	0.18374	T	0.050	0.13987	0.136	0.04008	0.206203607746	0.20212	0.25754088764728017	0.25668	0.358157990037	0.37530	0.395360171795	0.24422	T	0.083635	0.37098	T	-0.185342	0.22944	T	-0.504008	0.21933	T	0.148207157850266	0.16960	T	.	.	.	0.09177888	0.21514	0.055201277	0.09640	0.09177888	0.21514	0.055201277	0.09639	-2.577	0.06330	T	.	.	0.073	0.04558	B	.;.	.;.	1.617359	0.20662	14.85	0.80462772014093309	0.13214	0.95587	0.65318	D	AEFBI	0.400058	0.47510	N	-0.522399086346691	0.21356	1.132814	-0.357056128764837	0.26292	1.451256	0.85627841051563	0.25139	0.722319	0.85440	0	0.724815	0.89359	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.94	2.7	0.31007	1.588000	0.36242	0.013000	0.13471	0.599000	0.40250	1.000000	0.71638	0.000000	0.08366	0.972000	0.54974	0.1496:0.6559:0.0:0.1945	6.367	0.20666	822	0.40702	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	365.04	53	chr1	112913901	.	C	G	365.04	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-2.662;DP=436;ExcessHet=1.383;FS=118.285;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.47;ReadPosRankSum=1.47;SOR=7.522	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:36,17:53:99:0|1:112913900_A_G:196,0,1013:112913900	3	0	3	1
chr1	117010183	117010183	C	A	exonic	CD101	.	nonsynonymous SNV	CD101:NM_001256106:exon2:c.C377A:p.T126N,CD101:NM_001256109:exon2:c.C377A:p.T126N,CD101:NM_001256111:exon2:c.C377A:p.T126N,CD101:NM_004258:exon2:c.C377A:p.T126N	.	.	.	.	.	.	.	.	.	.	.	2374940	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.420	0.0752162709359	0.0003	0.000399361	0.0001	0.0013	0	0	0	1.503e-05	0	0	0.00011	17	154602	rs150988152	5.609e-05	5.609e-05	6.806e-05	4.4e-05	0.0019	4.61e-05	4.236e-05	0.0016	0.0014	0.0019	0	0	0	0	0.0002	5.396e-06	0.0002	0	0.0004	0.0004	0.0004	0.0005	0.0015	0.0004	0.0003	0.0012	0.0011	0.0015	0	0.0003	0	0	0	0	1.47e-05	0	0	0.005	0.63226	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999969	0.52935	D	3.16	0.88528	M	-0.17	0.65563	T	-4.74	0.80172	D	0.652	0.66272	-0.0276	0.81681	T	0.463	0.79184	T	10	0.23334405	0.40350	T	0.075216	0.72233	D	0.420	0.72930	.	.	0.896604443087	0.89557	0.6822968779990731	0.68168	0.526042768885	0.50237	0.56297492981	0.47688	T	0.450246	0.79143	T	-0.274149	0.11299	T	-0.1912	0.55478	T	0.311407119773488	0.25472	T	0.763424	0.38984	T	0.58300877	0.71772	0.524675	0.72538	0.58300877	0.71773	0.524675	0.72538	-9.806	0.72742	D	.	.	0.401	0.59650	A	.;.	.;.	4.324033	0.66207	24.9	0.99116826926065682	0.52880	0.98831	0.87428	D	AEFDBI	0.862415	0.78069	D	0.750162770132426	0.82915	7.882385	0.639156967135007	0.77805	6.750777	0.999999999999884	0.74766	0.516011	0.20929	0	0.588066	0.40923	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	5.79	5.79	0.91751	4.673000	0.61297	7.620000	0.62269	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.221000	0.22489	0.0:1.0:0.0:0.0	17.534	0.87719	883	0.28872	Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	915.45	72	chr1	117010183	.	C	A	915.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.158;DP=250;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.71;ReadPosRankSum=-0.721;SOR=0.693	GT:AD:DP:GQ:PL	0/1:36,36:72:99:926,0,854	6	0	1	0
chr1	117076755	117076755	C	G	exonic	TTF2	.	nonsynonymous SNV	TTF2:NM_003594:exon7:c.C1505G:p.P502R	.	423	1087	9	3	0	15	0.00685244	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.247	0.0546821588281	0.0008	0.000798722	0.0006	9.61e-05	0.0004	0	0.0002	0.0009	0.0022	6.089e-05	0.0005563	86	154602	rs142460316	0.0009	0.0009	0.0009	0.0009	0.0017	0.0009	0.0009	0.0010	0.0010	0.0003	0.0007	0.0007	0	0.0001	0.0017	0.0011	0.0012	0.0002	0.0007	0.0007	0.0007	0.0006	0.0011	0.0006	0.0005	0.0009	0.0008	0.0001	0	0.0009	0	0	0.0002	0	0.0011	0.0019	0.0004	0.026	0.46910	D	0.032	0.53426	D	0.684	0.41517	P	0.209	0.37260	B	0.048019	0.23291	N	0.219801	1	0.08975	N	2.05	0.56469	M	-2.22	0.87038	D	-2.38	0.52451	N	0.368	0.40963	-0.3139	0.74595	T	0.531	0.82583	D	10	0.018920392	0.00416	T	0.054682	0.65950	D	0.247	0.55478	.	.	0.820817334265	0.81912	0.41558741462957033	0.41474	0.199913314117	0.22393	0.28744751215	0.08552	T	0.029907	0.21320	T	-0.28428	0.10218	T	-0.231566	0.51621	T	0.00934911947987783	0.00119	T	0.329867	0.06895	T	0.09596712	0.22596	0.06615327	0.13510	0.09596712	0.22596	0.06615327	0.13510	-6.046	0.46662	T	.	.	0.085	0.10256	B	.	.	1.364117	0.17734	13.34	0.9849430273230676	0.42132	0.19087	0.20522	N	AEFBI	0.051833	0.09196	N	-0.289949994759726	0.29536	1.638753	-0.443235559324899	0.23742	1.296302	0.913130403057434	0.26414	0.722319	0.85440	0	0.702456	0.74545	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	5.93	3.01	0.33872	1.252000	0.32476	0.114000	0.14823	-0.176000	0.10722	0.002000	0.15269	0.000000	0.08366	0.000000	0.00833	0.1584:0.6772:0.0:0.1644	5.531	0.16273	895	0.25842	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.005051	0.000000	0.005848	0.000000	0.000000	0.006098	0.000000	0.07143	903.63	57	chr1	117076755	.	C	G	903.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.288;DP=238;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.85;ReadPosRankSum=1.39;SOR=0.741	GT:AD:DP:GQ:PL	0/1:22,35:57:99:914,0,543	6	0	1	0
chr1	119926524	119926524	T	C	exonic	NOTCH2	.	nonsynonymous SNV	NOTCH2:NM_024408:exon24:c.A3980G:p.D1327G	Alagille syndrome 2, Autosomal dominant;Hajdu-Cheney syndrome, Autosomal dominant	5	1401	110	6	0	122	0.0417237	.	.	.	138711	Hajdu-Cheney_syndrome|not_specified|not_provided	MONDO:MONDO:0007057,MedGen:C0917715,OMIM:102500,Orphanet:955|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.401	.	0.0050	0.0109824	0.0169	0.0015	0.0056	0.0004	0.0039	0.0109	0.0240	0.0642	0.0107825	1667	154602	rs61752484	0.0090	0.0091	0.0077	0.0104	0.0522	0.0089	0.0088	0.0509	0.0504	0.0012	0.0043	0.0051	0.0001	0.0027	0.0266	0.0068	0.0090	0.0522	0.0061	0.0061	0.0059	0.0062	0.0440	0.0057	0.0056	0.0392	0.0373	0.0016	0.0066	0.0040	0.0081	0	0.0027	0.0136	0.0074	0.0071	0.0440	0.411	0.10115	T	0.407	0.14679	T	0.101	0.25775	B	0.061	0.26820	B	0.028087	0.25656	U	0.187689	0.63999	0.32867	D	0.36	0.11994	N	-2.83	0.91249	D	-0.83	0.22727	N	0.233	0.26233	-0.7823	0.56172	T	0.259	0.62955	T	10	0.005875975	0.00132	T	.	.	.	0.401	0.71479	.	.	.	.	0.5572658966142893	0.55653	0.902817761121	0.70701	0.378910720348	0.22102	T	0.340968	0.70992	T	-0.255136	0.13476	T	-0.102017	0.63241	T	0.0107099988816602	0.00151	T	0.783822	0.42110	T	0.15419918	0.34914	0.12176654	0.29377	0.15419918	0.34914	0.12176654	0.29376	-4.607	0.32260	T	0.08702335474015384	0.05070	0.108	0.20391	B	.	.	3.766816	0.54085	23.4	0.96812852524452542	0.31195	0.90332	0.51424	D	AEFBI	0.296564	0.40637	N	-0.406180722580298	0.25253	1.369426	-0.157145179363137	0.33134	1.892235	0.999933978369673	0.46732	0.732398	0.92422	0	0.588015	0.36545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.64	5.64	0.86480	2.183000	0.42195	4.071000	0.41665	0.665000	0.62972	0.647000	0.28146	1.000000	0.68203	0.976000	0.56436	0.0:0.0:0.0:1.0	15.329	0.73896	825	0.40060	EGF-like domain|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.019348	0.005155	0.009511	0.011834	0.000000	0.034483	0.050314	0.026718	0.07143	353.63	48	chr1	119926524	.	T	C	353.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.322;DP=220;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.37;ReadPosRankSum=-0.213;SOR=0.576	GT:AD:DP:GQ:PL	0/1:30,18:48:99:364,0,726	6	0	1	0
chr1	121324614	121324614	G	A	exonic	SRGAP2C	.	nonsynonymous SNV	SRGAP2C:NM_001271872:exon4:c.G397A:p.E133K,SRGAP2C:NM_001329984:exon4:c.G397A:p.E133K	.	429	1088	5	0	0	5	0.00229253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs782752093	1.949e-05	2.06e-05	2.244e-05	1.664e-05	0.0006	1.298e-05	1.084e-05	0.0002	8.314e-05	0	0.0001	0	0	0	0.0006	1.168e-05	3.921e-05	3.731e-05	1.981e-05	1.971e-05	3.867e-05	0	0.0001	5.27e-06	2.46e-06	2.275e-05	9.13e-06	0	0	0.0001	0	0	0	0	1.473e-05	0	0	.	.	.	0.033	0.53072	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.729	0.73015	.	.	.	.	.	.	.	0.547195	0.64051	D	.	.	.	.	.	.	.	0.146414634003	0.14194	0.5318273945150466	0.53107	.	.	.	.	.	0.132189	0.46212	T	0.0234947	0.54853	T	-0.204028	0.54265	T	.	.	.	0.972603	0.90144	D	0.24644366	0.47614	0.5388122	0.73347	0.24644366	0.47613	0.5388122	0.73348	-13.823	0.92468	D	.	.	0.337	0.55685	B	.	.	5.471586	0.91279	32	0.91252197132773705	0.20510	0.97662	0.76241	D	AEFI	.	.	.	.	.	.	.	.	.	0.955427931843806	0.28188	0.322412	0.05557	0	0.195528	0.04277	0	0.292756	0.05521	0	0.370666	0.05837	0	0.860829	0.52804	3.59	3.59	0.40253	9.699000	0.97950	11.762000	0.95653	0.318000	0.19305	1.000000	0.71638	1.000000	0.68203	0.960000	0.51673	0.0:0.0:1.0:0.0	13.051	0.58364	970	0.06235	F-BAR 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	583.46	71	chr1	121324614	.	G	A	583.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.824;DP=245;ExcessHet=0;FS=1.011;MLEAC=1;MLEAF=0.071;MQ=40.84;MQRankSum=-0.302;QD=8.22;ReadPosRankSum=-1.271;SOR=0.507	GT:AD:DP:GQ:PL	0/1:43,28:71:99:594,0,1087	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	0/1:52,9:63:10:.:.:10,0,1725:.	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	0/1:52,9:63:10:.:.:10,0,1725:.	3	0	4	0
chr1	148559889	148559889	A	G	exonic	NBPF14	.	nonsynonymous SNV	NBPF14:NM_015383:exon32:c.T4126C:p.S1376P	.	464	1036	17	5	0	27	0.0128633	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.00123649756997	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1174000010	0.0046	0.0047	0.0046	0.0047	0.0168	0.0045	0.0045	0.0134	0.0121	0.0014	0.0043	0.0105	2.864e-05	0.0004	0.0168	0.0052	0.0057	0.0010	0.0039	0.0041	0.0041	0.0037	0.0055	0.0036	0.0035	0.0051	0.0049	0.0013	0.0044	0.0045	0.0111	0	0	0.0211	0.0055	0.0060	0.0007	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	0.22098	.	.	.	.	.	.	.	0.01586628	0.00333	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.615438	0.23533	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.559	0.67187	A	.;.	.;.	1.206891	0.15994	12.25	.	.	.	.	.	.	0.051782	0.09182	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.954000	0.28772	0.364000	0.17606	0.177000	0.17786	0.009000	0.18154	0.000000	0.08366	0.003000	0.05239	.	.	.	929	0.16858	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	1291.32	49	chr1	148559889	.	A	G	1291.32	.	AC=2;AF=0.143;AN=14;DP=226;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=59.44;QD=26.35;SOR=0.909	GT:AD:DP:GQ:PL	1/1:0,49:49:99:1312,147,0	6	1	0	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	0/1:167,58:225:99:1060,0,4160	3	0	3	1
chr1	151814975	151814975	C	T	exonic	RORC	.	nonsynonymous SNV	RORC:NM_001001523:exon4:c.G686A:p.S229N,RORC:NM_005060:exon5:c.G749A:p.S250N	Immunodeficiency 42, Autosomal recessive	416	1101	5	0	0	5	0.00226552	.	.	.	447201	Autosomal_recessive_mendelian_susceptibility_to_mycobacterial_diseases_due_to_complete_RORgamma_receptor_deficiency|not_provided	MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622,Orphanet:477857|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.178	0.035382658425	0.0034	0.00239617	0.0035	0.0008	0.0042	0	0.0009	0.0052	0.0011	0.0010	0.0035769	553	154602	rs41263732	0.0045	0.0045	0.0046	0.0044	0.0062	0.0044	0.0044	0.0053	0.0052	0.0011	0.0050	0.0010	0	0.0009	0.0062	0.0054	0.0035	0.0007	0.0036	0.0036	0.0037	0.0035	0.0077	0.0034	0.0033	0.0066	0.0062	0.0008	0	0.0077	0.0009	0	0.0005	0	0.0056	0.0043	0.0010	0.319	0.13610	T	0.562	0.09052	T	0.0	0.02946	B	0.002	0.06944	B	0.491828	0.12048	U	0.708276	0.985251	0.27394	N	0.4	0.12274	N	-3.44	0.94469	D	-0.55	0.16799	N	0.107	0.12770	-0.6230	0.63864	T	0.463	0.79229	T	10	0.006422162	0.00145	T	0.035383	0.56311	D	0.178	0.44724	.	.	0.0675242888579	0.06100	0.2991254456685456	0.29825	0.502364597642	0.48596	0.319736391306	0.13381	T	0.046419	0.27419	T	-0.406512	0.02097	T	-0.352698	0.38896	T	0.00503885002551602	0.00054	T	0.593441	0.21910	T	0.050329994	0.09075	0.043403666	0.05390	0.043574948	0.06814	0.05565613	0.09803	-5.559	0.42847	T	.	.	0.086	0.10497	B	.;.	.;.	1.781456	0.22647	15.71	0.91852323807667569	0.21165	0.47943	0.28096	N	AEFGBI	0.331338	0.43109	N	-0.612297205863135	0.18573	0.9653918	-0.569535625930826	0.20289	1.092451	0.999905428536492	0.45458	0.497415	0.19182	0	0.563428	0.19063	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.35	-0.194	0.12590	0.329000	0.19442	0.591000	0.19822	0.599000	0.40250	0.960000	0.33603	0.178000	0.23398	0.923000	0.45890	0.1583:0.5105:0.1396:0.1916	2.431	0.04199	580	0.69689	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.009567	0.000000	0.009511	0.011696	0.000000	0.025862	0.006098	0.007576	0.07143	1135.44	65	chr1	151814975	.	C	T	1135.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.184;DP=270;ExcessHet=0;FS=0.983;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.47;ReadPosRankSum=0.548;SOR=0.85	GT:AD:DP:GQ:PL	0/1:22,43:65:99:1146,0,588	6	0	1	0
chr1	152109804	152109804	C	T	exonic	TCHH	.	nonsynonymous SNV	TCHH:NM_007113:exon3:c.G3413A:p.R1138K	.	424	1089	9	0	0	9	0.00411523	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	.	.	0.00758786	0.0048	0.0001	0.0003	0	0	2.999e-05	0	0.0348	0.0040491	626	154602	rs533992300	0.0021	0.0021	0.0011	0.0032	0.0339	0.0021	0.0020	0.0329	0.0325	9.158e-05	0	0	0	0	0.0025	2.364e-05	0.0021	0.0339	0.0011	0.0011	0.0005	0.0016	0.0346	0.0009	0.0009	0.0302	0.0286	0	0	0	0	0	0	0	0	0.0005	0.0346	0.0	0.91255	D	0.339	0.18071	T	0.141	0.27581	B	0.032	0.22131	B	.	.	.	.	1	0.08975	N	1.87	0.49600	L	3.58	0.04594	T	-0.36	0.13035	N	0.215	0.24135	-0.9188	0.45716	T	0.003	0.00832	T	9	0.0022397041	0.00033	T	.	.	.	0.015	0.02232	0.292	0.25400	0.39798585902	0.39410	0.020110557720561088	0.01964	0.269095252176	0.29422	0.304328262806	0.11049	T	0.002148	0.01547	T	-0.575642	0.00205	T	-0.573884	0.15095	T	0.110068335798985	0.13431	T	0.153785	0.01329	T	0.16616009	0.36933	0.2301852	0.48113	0.17152028	0.37790	0.27158147	0.53059	-6.744	0.52141	T	.	.	0.192	0.44986	B	.;.	.;.	1.747150	0.22230	15.53	0.51538923033367567	0.04581	0.04943	0.10703	N	AEFDBHCI	0.076084	0.15298	N	-1.1373360611999	0.05990	0.2746135	-1.17216560275044	0.06378	0.3068309	0.999861090633338	0.44398	0.59774	0.34471	0	0.563428	0.19063	0	0.596491	0.31596	0	0.554799	0.18163	0	.	.	3.01	2.08	0.26079	1.223000	0.32131	.	.	0.440000	0.21072	0.005000	0.17040	0.000000	0.08366	0.001000	0.02609	0.0:0.8634:0.0:0.1366	7.490	0.26625	479	0.77495	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.004228	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.026515	0.07143	1395.44	125	chr1	152109804	.	C	T	1395.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.521;DP=432;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=59.74;MQRankSum=-1.467;QD=11.16;ReadPosRankSum=-2.059;SOR=0.673	GT:AD:DP:GQ:PL	0/1:65,60:125:99:1406,0,1617	6	0	1	0
chr1	152306286	152306286	A	C	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.T8600G:p.I2867S	Ichthyosis vulgaris, Autosomal dominant	1	1398	122	1	0	124	0.0424658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	.	.	0.0139776	1.664e-05	0	0.0002	0	0	0	0	0	0.0026894	70	26028	rs562496957	0.0004	0.0017	0.0004	0.0004	0.0182	0.0004	0.0004	0.0169	0.0164	0.0182	0.0001	0	5.157e-05	0	0	4.499e-06	0.0002	4.649e-05	0.0001	0.0087	0.0001	0.0001	0.0007	8.399e-05	6.959e-05	0.0002	0.0001	0.0003	0	0.0003	0	0.0007	9.781e-05	0	1.508e-05	0	0	1.0	0.00964	T	.	.	.	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-2.695	0.00033	N	4.44	0.02139	T	1.22	0.01051	N	0.108	0.09349	-0.9320	0.43844	T	0.000	0.00114	T	9	0.005701959	0.00127	T	.	.	.	0.028	0.06331	.	.	0.0666544352282	0.05500	0.03254880392644141	0.03202	.	.	0.232478544116	0.02157	T	0.011277	0.10082	T	-0.338118	0.05519	T	-0.72346	0.04630	T	0.0612642933428966	0.07366	T	0.29767	0.05533	T	0.03513105	0.04077	0.070264496	0.14906	0.03513105	0.04077	0.070264496	0.14905	0.608	0.00192	T	.	.	0.072	0.04316	B	.	.	-0.356046	0.02382	0.263	0.50286818611689099	0.04358	0.00033	0.00296	N	AEFI	0.012106	0.00124	N	-1.93142500550348	0.00296	0.01268816	-1.86376335753537	0.00576	0.0255669	2.65845221984093E-5	0.03498	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	3.09	-2.54	0.05941	-0.796000	0.04680	.	.	-0.434000	0.05191	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.3682:0.2705:0.3613:0.0	5.099	0.14083	561	0.71236	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	2784.24	1120	chr1	152306286	.	A	C	2784.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-2.362;DP=6170;ExcessHet=0.3476;FS=0.964;MLEAC=2;MLEAF=0.143;MQ=53.01;MQRankSum=-7.782;QD=1.05;ReadPosRankSum=7.35;SOR=0.681	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1000,120:1120:99:0|1:152306286_A_C:1948,0,41161:152306286	5	0	2	0
chr1	152306292	152306292	-	CC	exonic	FLG	.	frameshift insertion	FLG:NM_002016:exon3:c.8593_8594insGG:p.A2865Gfs*28	Ichthyosis vulgaris, Autosomal dominant	0	1397	124	1	0	126	0.0431507	.	.	.	1019162	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1205280854	0.0003	0.0016	0.0004	0.0003	0.0150	0.0003	0.0003	0.0139	0.0134	0.0150	8.971e-05	0	5.141e-05	0	0	0	0.0001	3.488e-05	9.776e-05	0.0079	0.0001	8.565e-05	0.0006	5.861e-05	4.725e-05	0.0002	8.916e-05	0.0002	0	0.0002	0	0.0006	9.509e-05	0	1.482e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	2514.2	1145	chr1	152306292	.	G	GCC	2514.2	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-3.079;DP=6199;ExcessHet=0.3476;FS=0.966;MLEAC=2;MLEAF=0.143;MQ=53.41;MQRankSum=-7.949;QD=0.93;ReadPosRankSum=7.51;SOR=0.723	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1029,116:1145:99:0|1:152306286_A_C:1773,0,42633:152306286	5	0	2	0
chr1	152306295	152306296	TG	-	exonic	FLG	.	frameshift deletion	FLG:NM_002016:exon3:c.8590_8591del:p.H2864Cfs*5	Ichthyosis vulgaris, Autosomal dominant	1	1401	119	1	0	121	0.0413958	.	.	.	1019163	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1407703398	0.0003	0.0015	0.0003	0.0002	0.0132	0.0003	0.0003	0.0121	0.0117	0.0132	8.971e-05	0	2.574e-05	0	0	0	8.32e-05	3.487e-05	7.227e-05	0.0080	7.064e-05	7.397e-05	0.0005	3.847e-05	2.957e-05	8.069e-05	3.381e-05	0.0001	0	0.0001	0	0.0005	9.714e-05	0	1.499e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	2326.2	1170	chr1	152306294	.	ATG	A	2326.2	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-1.943;DP=6237;ExcessHet=0.3476;FS=0.964;MLEAC=2;MLEAF=0.143;MQ=53.66;MQRankSum=-8.345;QD=0.85;ReadPosRankSum=6.52;SOR=0.766	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1054,116:1170:99:0|1:152306286_A_C:1698,0,43791:152306286	5	0	2	0
chr1	152306299	152306299	T	A	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.A8587T:p.T2863S	Ichthyosis vulgaris, Autosomal dominant	1	1406	114	1	0	116	0.0396175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00815051428836	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1271569013	0.0003	0.0015	0.0003	0.0002	0.0126	0.0003	0.0002	0.0116	0.0112	0.0126	8.971e-05	0	2.571e-05	0	0	4.498e-06	9.984e-05	1.162e-05	0.0002	0.0082	0.0002	0.0002	0.0005	0.0001	0.0001	0.0003	0.0003	0.0005	0	0.0001	0	0.0005	9.694e-05	0	4.498e-05	0.0005	0	0.75	0.03587	T	.	.	.	0.477	0.36687	P	0.241	0.38645	B	.	.	.	.	1	0.08975	N	1.105	0.28596	L	4.7	0.01673	T	0.28	0.04233	N	0.048	0.01999	-0.9323	0.43799	T	0.002	0.00526	T	9	0.06755382	0.09427	T	0.008151	0.21598	T	0.011	0.01250	0.317	0.29419	0.162503812791	0.15892	0.035396750250694796	0.03486	.	.	0.270178943872	0.06164	T	0.009579	0.08713	T	-0.5121	0.00488	T	-0.68323	0.06789	T	0.0273883762299825	0.01600	T	0.216078	0.02692	T	0.025629967	0.01522	0.028810205	0.01152	0.025629967	0.01522	0.028810205	0.01152	-3.074	0.11000	T	.	.	0.090	0.12655	B	.	.	-0.112232	0.03568	0.691	0.56914044250386053	0.05655	0.01371	0.04680	N	AEFI	0.036336	0.04825	N	-0.963681291731912	0.09387	0.4441023	-1.1154303731441	0.07405	0.3600705	1.18193506777854E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	1.59	0.398	0.15542	-0.081000	0.11285	.	.	-1.396000	0.01145	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2327:0.0:0.7673	3.431	0.06999	561	0.71236	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	2180.24	1175	chr1	152306299	.	T	A	2180.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.617;DP=6229;ExcessHet=0.3476;FS=2.188;MLEAC=2;MLEAF=0.143;MQ=53.99;MQRankSum=-8.701;QD=0.8;ReadPosRankSum=5.97;SOR=0.823	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1060,115:1175:99:0|1:152306286_A_C:1638,0,44163:152306286	5	0	2	0
chr1	152985421	152985421	C	T	exonic	SPRR1A	.	nonsynonymous SNV	SPRR1A:NM_001199828:exon2:c.C191T:p.P64L,SPRR1A:NM_005987:exon2:c.C191T:p.P64L	.	425	1091	6	0	0	6	0.00274223	.	.	.	4079312	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.207	0.0169719140992	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1377042480	8.392e-06	8.343e-06	1.392e-06	1.546e-05	0.0002	4.48e-06	3.54e-06	3.834e-05	2.705e-05	0	0	0	0	0	0.0002	9.205e-07	5.07e-05	8.28e-05	1.318e-05	1.314e-05	2.575e-05	0	0.0002	2.19e-06	8.2e-07	.	.	0	0	0	0	0.0002	0	0	0	0	0.0002	0.002	0.72154	D	0.004	0.74150	D	0.999	0.77913	D	0.971	0.72444	D	0.211542	0.16353	N	0.451634	0.948109	0.37596	D	.	.	.	1.68	0.27184	T	-8.26	0.96915	D	0.565	0.58883	-0.9979	0.30507	T	0.113	0.40307	T	9	0.73632383	0.74645	D	0.016972	0.38471	T	0.207	0.49555	0.647	0.78436	0.580347915982	0.57706	0.08803059417083679	0.08736	.	.	0.334099113941	0.15552	T	0.145141	0.48211	T	-0.229198	0.16755	T	-0.397876	0.33631	T	0.918399810791016	0.57664	D	0.959904	0.84889	D	0.5358461	0.69163	0.5459986	0.73756	0.5358461	0.69164	0.5459986	0.73757	-9.974	0.73756	D	.	.	0.154	0.34071	B	.	.	3.678079	0.52339	23.2	0.99840278532893179	0.92057	0.64603	0.32461	D	AEFBI	0.121569	0.23629	N	0.401473922566382	0.61503	4.352364	0.34189914791065	0.58020	3.970401	0.00114548582671437	0.08272	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.64	4.67	0.58089	2.100000	0.41402	.	.	0.599000	0.40250	0.526000	0.27158	1.000000	0.68203	0.205000	0.22041	0.0:0.8221:0.1779:0.0	11.708	0.50874	796	0.45353	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1532.44	86	chr1	152985421	.	C	T	1532.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.443;DP=276;ExcessHet=0;FS=1.734;MLEAC=1;MLEAF=0.071;MQ=59.79;MQRankSum=-1.024;QD=17.82;ReadPosRankSum=-0.255;SOR=0.902	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:45,41:86:99:0|1:152985411_G_A:1543,0,1715:152985411	6	0	1	0
chr1	153760378	153760378	C	G	exonic	INTS3	.	nonsynonymous SNV	INTS3:NM_023015:exon12:c.C1305G:p.D435E,INTS3:NM_001324475:exon13:c.C1305G:p.D435E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.557	0.0101042060593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.109e-06	3.763e-05	5.452e-06	2.753e-06	5.404e-06	1.48e-06	9.7e-07	1.94e-06	1.28e-06	0	0	0	0	0	0	5.404e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.096	0.39340	T	0.99	0.63424	D	0.971	0.76916	D	0.000000	0.84330	D	0.000000	0.999453	0.47118	D	.	.	.	.	.	.	-3.57	0.68999	D	0.889	0.88798	-0.8647	0.50922	T	0.172	0.51484	T	9	0.8319566	0.82357	D	0.010104	0.26235	T	0.557	0.81774	.	.	0.721551216883	0.71909	0.6563577712550202	0.65571	2.15008403777	0.95306	0.843462109566	0.88622	D	.	.	.	0.223	0.76021	D	0.0819729	0.75709	D	0.98498809337616	0.76116	D	.	.	.	.	.	.	.	.	.	.	.	-3.456	0.16153	T	.	.	0.998	0.97160	P	.;.;.	.;.;.	3.646224	0.51727	23.1	0.99633933635678729	0.76203	0.93226	0.57654	D	AEFBI	0.403545	0.47719	N	0.0683850253580956	0.44993	2.763348	0.0345004263229141	0.41329	2.481153	0.733851878871199	0.23096	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.13	2.28	0.27583	0.899000	0.28049	2.750000	0.34528	-0.171000	0.11205	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.7504:0.0:0.2496	8.751	0.33774	123	0.95099	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	414.4	91	chr1	153760378	.	C	G	414.4	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-2.605;DP=558;ExcessHet=1.383;FS=257.17;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.34;ReadPosRankSum=0.128;SOR=8.608	GT:AD:DP:GQ:PL	0/1:61,30:91:40:40,0,1032	3	0	3	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	0/1:28,15:43:99:275,0,615	4	0	3	0
chr1	161048864	161048864	C	G	exonic	ARHGAP30	.	nonsynonymous SNV	ARHGAP30:NM_001287602:exon8:c.G1626C:p.K542N,ARHGAP30:NM_001287600:exon11:c.G1713C:p.K571N,ARHGAP30:NM_001025598:exon12:c.G2157C:p.K719N	.	371	1150	1	0	0	1	0.000434594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00594878585391	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.237e-05	0.0009	1.505e-05	9.664e-06	2.999e-05	7.73e-06	6.38e-06	9.36e-06	7.65e-06	2.999e-05	0	0	0	0	0	1.537e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.563	0.06691	T	0.539	0.12037	T	0.0	0.02946	B	0.001	0.04355	B	0.167583	0.17472	N	0.469196	1	0.19238	N	0.55	0.14455	N	3.07	0.30133	T	0.59	0.02558	N	0.032	0.00825	-0.9399	0.42632	T	0.010	0.03673	T	10	0.032844096	0.01445	T	0.005949	0.15520	T	0.026	0.05648	0.085	0.00830	0.082315109003	0.07666	0.020223521516263606	0.01975	0.0321919343221	0.03346	0.227677255869	0.01800	T	0.007284	0.06695	T	-0.397532	0.02403	T	-0.808803	0.01692	T	0.0349868424236774	0.02805	T	0.608539	0.22995	T	0.041750744	0.06205	0.033273403	0.02195	0.041750744	0.06205	0.033273403	0.02195	-4.588	0.32020	T	.	.	0.104	0.29560	B	.;.	.;.	0.272084	0.06499	2.975	0.87093396735068451	0.16984	0.17351	0.19799	N	AEFDBCI	0.077101	0.15528	N	-1.02014869570935	0.08186	0.382952	-0.959379613406779	0.10706	0.5409345	0.999970802198825	0.50053	0.67177	0.52595	0	0.702456	0.74545	0	0.590023	0.30420	0	0.567892	0.33627	0	.	.	4.64	2.21	0.27042	0.214000	0.17331	0.493000	0.18920	0.587000	0.30956	0.000000	0.06391	0.004000	0.18990	0.038000	0.14061	0.2667:0.4814:0.1544:0.0974	2.806	0.05095	531	0.73574	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	988.67	156	chr1	161048864	.	C	G	988.67	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-5.131;DP=1126;ExcessHet=1.1394;FS=231.764;MLEAC=4;MLEAF=0.4;MQ=60;MQRankSum=0;QD=1.68;ReadPosRankSum=1.96;SOR=9.18	GT:AD:DP:GQ:PL	0/1:119,33:156:99:199,0,2654	2	0	3	2
chr1	169851821	169851821	G	A	exonic	C1orf112	.	nonsynonymous SNV	C1orf112:NM_001366773:exon21:c.G1280A:p.G427E,C1orf112:NM_001320048:exon22:c.G1844A:p.G615E,C1orf112:NM_001366768:exon22:c.G2162A:p.G721E,C1orf112:NM_001366772:exon22:c.G1280A:p.G427E,C1orf112:NM_001363739:exon23:c.G1280A:p.G427E,C1orf112:NM_001366769:exon23:c.G2423A:p.G808E,C1orf112:NM_001366770:exon23:c.G2423A:p.G808E,C1orf112:NM_001320047:exon24:c.G2249A:p.G750E,C1orf112:NM_001366771:exon24:c.G1280A:p.G427E	.	431	1081	10	0	0	10	0.00460405	.	.	.	2806150	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.020	0.00551394939243	0.0035	0.00119808	0.0032	0.0005	0.0010	0	0.0041	0.0043	0.0055	0.0029	0.0030789	476	154602	rs74523449	0.0038	0.0038	0.0038	0.0039	0.0043	0.0038	0.0037	0.0042	0.0041	0.0004	0.0007	0.0014	2.52e-05	0.0049	0.0017	0.0043	0.0027	0.0038	0.0027	0.0027	0.0029	0.0025	0.0047	0.0025	0.0024	0.0042	0.0041	0.0007	0	0.0007	0.0012	0	0.0034	0	0.0047	0.0024	0.0033	0.434	0.09430	T	1.0	0.06576	T	0.006	0.13644	B	0.016	0.17743	B	0.003131	0.35389	N	0.313387	0.999969	0.18878	N	1.59	0.40313	L	1.04	0.40218	T	0.04	0.06488	N	0.225	0.25253	-1.0564	0.12672	T	0.024	0.10284	T	10	0.004492849	0.00092	T	0.005514	0.14197	T	0.020	0.03691	.	.	0.396794106654	0.39292	0.2651336989800043	0.26426	0.0809065131019	0.09109	.	.	.	0.007202	0.06615	T	-0.573593	0.00211	T	-0.59671	0.13089	T	0.00480137679770692	0.00052	T	0.643636	0.25592	T	0.026224706	0.01653	0.04886347	0.07347	0.026224706	0.01653	0.04886347	0.07346	-3.752	0.22077	T	.	.	0.123	0.35247	B	.;.;.	.;.;.	1.788939	0.22740	15.74	0.87281711957695274	0.17116	0.53669	0.29428	D	AEFGBI	0.084856	0.17200	N	-0.513183891308574	0.21653	1.150718	-0.355549339792196	0.26337	1.454112	0.701617323053937	0.22707	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.57	3.67	0.41236	2.017000	0.40600	2.122000	0.30726	-0.103000	0.15852	0.738000	0.29006	0.939000	0.28734	0.944000	0.48669	0.0863:0.0:0.7481:0.1656	7.432	0.26307	490	0.76723	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.07143	604.53	38	chr1	169851821	.	G	A	604.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.676;DP=213;ExcessHet=0;FS=8.324;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.91;ReadPosRankSum=2.09;SOR=0.094	GT:AD:DP:GQ:PL	0/1:14,24:38:99:615,0,400	6	0	1	0
chr1	178521265	178521265	G	A	splicing	TEX35	NM_001170722:exon8:c.610+1G>A;NM_032126:exon8:c.586+1G>A;NM_001170723:exon8:c.586+1G>A;NM_001170724:exon8:c.586+1G>A	.	.	.	.	.	.	.	.	.	.	1.0000	0.936	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs533799319	3.42e-06	3.42e-06	2.722e-06	4.125e-06	8.961e-05	1e-06	7.3e-07	2.375e-05	1.258e-05	8.961e-05	0	0	0	0	0	0	3.311e-05	0	6.564e-06	6.561e-06	0	1.342e-05	2.405e-05	0	0	.	.	2.405e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.368171	0.87893	D	0.291076	0.87740	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	4.848008	0.79215	27.1	0.99471350042777529	0.66365	0.87774	0.47429	D	AEFBI	.	.	.	1.02602728374149	0.96490	14.75904	0.859809733137606	0.93576	12.13504	0.999345708181151	0.39222	0.053691	0.00478	0	0.059962	0.00310	0	0.060301	0.00762	0	0.057018	0.00518	0	0.970465	0.72717	5.06	5.06	0.67838	4.266000	0.58669	9.085000	0.78728	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.807000	0.38039	0.0:0.0:1.0:0.0	14.293	0.65842	804	0.43891	.;.;.;.	.	.	.	.	.	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	1561.44	112	chr1	178521265	.	G	A	1561.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.413;DP=302;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.94;ReadPosRankSum=-0.009;SOR=0.661	GT:AD:DP:GQ:PL	0/1:47,65:112:99:1572,0,1062	6	0	1	0
chr1	179445193	179445193	A	G	exonic	AXDND1	.	nonsynonymous SNV	AXDND1:NM_144696:exon16:c.A1787G:p.N596S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	.	0.0039	0.00399361	0.0014	0.0149	0.0010	0	0	8.139e-05	0	7.914e-05	0.0009961	154	154602	rs143178688	0.0004	0.0004	0.0004	0.0004	0.0120	0.0004	0.0004	0.0110	0.0106	0.0120	0.0008	0	0	0	0.0021	8.613e-05	0.0009	2.545e-05	0.0032	0.0032	0.0034	0.0031	0.0113	0.0030	0.0029	0.0104	0.0101	0.0113	0	0.0011	0	0	0	0.0034	5.888e-05	0.0014	0	0.224	0.18691	T	0.283	0.21478	T	0.096	0.25489	B	0.023	0.19966	B	0.002673	0.36137	N	0.348367	0.984697	0.24777	N	1.545	0.39105	L	2.38	0.15843	T	-1.73	0.41046	N	0.112	0.09914	-1.0564	0.12672	T	0.048	0.20672	T	10	0.009131581	0.00206	T	.	.	.	0.048	0.13305	.	.	0.143124449307	0.13826	0.04672097485263134	0.04615	0.0245501264506	0.02494	0.510898172855	0.40348	T	0.003937	0.03343	T	-0.670054	0.00055	T	-0.724874	0.04564	T	0.00657107953106405	0.00073	T	0.710029	0.32075	T	0.045215562	0.07362	0.05250762	0.08664	0.045215562	0.07362	0.05250762	0.08664	-3.613	0.18045	T	.	.	0.092	0.13503	B	.;.	.;.	1.521301	0.19533	14.31	0.92168722658500912	0.21532	0.57108	0.30290	D	AEFI	0.105212	0.21028	N	-0.487633309516873	0.22485	1.200964	-0.400818502397279	0.24973	1.370644	2.0302683553703E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.65	-1.32	0.08721	0.498000	0.22238	0.181000	0.15632	-0.106000	0.15538	1.000000	0.71638	0.000000	0.08366	0.625000	0.32026	0.3911:0.4447:0.1641:0.0	5.732	0.17316	557	0.71576	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002018	0.010101	0.002725	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	153.83	18	chr1	179445193	.	A	G	153.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.15;DP=124;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.55;ReadPosRankSum=-0.363;SOR=0.765	GT:AD:DP:GQ:PL	0/1:11,7:18:99:164,0,248	6	0	1	0
chr1	181733553	181733553	C	T	exonic	CACNA1E	.	nonsynonymous SNV	CACNA1E:NM_001205294:exon20:c.C3008T:p.T1003M,CACNA1E:NM_000721:exon21:c.C3065T:p.T1022M,CACNA1E:NM_001205293:exon21:c.C3065T:p.T1022M	.	.	.	.	.	.	.	.	.	.	.	1153373	not_provided|CACNA1E-related_disorder|Developmental_and_epileptic_encephalopathy,_69	MedGen:C3661900|.|MONDO:MONDO:0032657,MedGen:C4748988,OMIM:618285	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.286	.	0.0059	0.00499201	0.0032	0.0163	0.0026	0	0.0117	0.0015	0.0035	0.0004	0.0027231	421	154602	rs74127835	0.0014	0.0014	0.0014	0.0013	0.0183	0.0013	0.0013	0.0171	0.0166	0.0183	0.0017	0.0023	2.522e-05	0.0111	0.0026	0.0004	0.0026	0.0005	0.0060	0.0060	0.0060	0.0060	0.0164	0.0057	0.0055	0.0154	0.0150	0.0164	0	0.0015	0.0032	0.0002	0.0118	0.0034	0.0008	0.0043	0.0004	0.097	0.31987	T	0.176	0.35582	T	0.265	0.48047	B	0.063	0.34351	B	0.001996	0.00848	N	2.914480	1	0.08975	N	0.55	0.14455	N	-3.89	0.96078	D	-1.84	0.44471	N	0.191	0.22098	0.015	0.82550	D	0.493	0.80772	T	10	0.012004048	0.00260	T	.	.	.	0.286	0.60456	.	.	0.392130519673	0.38828	0.2722063094858769	0.27133	1.13581973304	0.78781	0.40963357687	0.26406	T	0.238618	0.60656	T	-0.413898	0.01873	T	-0.353686	0.38782	T	0.00980372103968054	0.00129	T	0.769523	0.39899	T	0.024607198	0.01309	0.040046204	0.04240	0.024598308	0.01307	0.05158579	0.08332	-4.374	0.29202	T	.	.	0.077	0.09868	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.988968	0.13669	10.20	0.93931453795875242	0.23980	0.06677	0.12696	N	AEFDBI	0.084610	0.17149	N	-0.921406538343395	0.10342	0.4937596	-0.951607909724804	0.10885	0.551174	0.00185944341837866	0.08948	0.67177	0.52595	0	0.702456	0.74545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.86	2.99	0.33673	0.013000	0.13206	0.186000	0.15687	-0.173000	0.11020	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.5755:0.1586:0.2659	4.716	0.12276	642	0.63909	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002518	0.000000	0.009511	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	861.49	75	chr1	181733553	.	C	T	861.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.468;DP=255;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.49;ReadPosRankSum=0.896;SOR=0.643	GT:AD:DP:GQ:PL	0/1:37,38:75:99:872,0,851	6	0	1	0
chr1	183225694	183225694	G	A	exonic	LAMC2	.	nonsynonymous SNV	LAMC2:NM_005562:exon8:c.G1040A:p.R347H,LAMC2:NM_018891:exon8:c.G1040A:p.R347H	Epidermolysis bullosa, junctional, Herlitz type, Autosomal recessive;Epidermolysis bullosa, junctional, non-Herlitz type, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	2297526	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.057	0.00723572306207	0.0002	0.000399361	0.0001	0.0011	0.0002	0	0.0002	1.499e-05	0	0	0.0001294	20	154602	rs143483548	7.192e-05	7.388e-05	8.044e-05	6.332e-05	0.0014	6.055e-05	5.602e-05	0.0011	0.0009	0.0014	6.709e-05	0.0002	0	1.873e-05	0.0003	2.522e-05	0.0003	1.16e-05	0.0003	0.0003	0.0004	0.0003	0.0010	0.0003	0.0002	0.0008	0.0007	0.0010	0	0.0003	0.0003	0	0	0	4.412e-05	0	0.0002	0.147	0.26085	T	0.312	0.19599	T	0.0	0.07471	B	0.0	0.06944	B	0.386533	0.13315	N	0.707307	0.964855	0.25963	N	1.055	0.26876	L	1.26	0.36330	T	-2.31	0.51319	N	0.132	0.14622	-1.0215	0.23227	T	0.056	0.23602	T	10	0.03255081	0.01409	T	0.007236	0.19198	T	0.057	0.16321	.	.	0.330069100803	0.32608	0.45451531976631215	0.45369	0.141338820758	0.15935	0.232521057129	0.02160	T	0.153856	0.49488	T	-0.528302	0.00393	T	-0.587994	0.13841	T	0.0230747157129978	0.01032	T	0.757724	0.38135	T	0.044849973	0.07239	0.05125034	0.08211	0.044849973	0.07239	0.05125034	0.08210	-6.105	0.47150	T	0.1916498134020015	0.25154	0.071	0.05800	B	.;.	.;.	2.074689	0.26388	17.10	0.98505140508597511	0.42264	0.48616	0.28247	N	AEFBI	0.143955	0.26679	N	-0.629141959588588	0.18072	0.9353636	-0.499211061031234	0.22176	1.203195	0.999780344384589	0.43007	0.706298	0.61202	0	0.610034	0.51514	0	0.709663	0.75317	0	0.542086	0.14980	0	.	.	5.06	2.08	0.26079	0.912000	0.28220	1.905000	0.29608	-0.127000	0.13314	0.589000	0.27658	0.982000	0.30508	0.960000	0.51673	0.2327:0.0:0.6111:0.1562	4.823	0.12766	494	0.76445	.;Laminin IV|Laminin IV|Laminin IV	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	553.63	39	chr1	183225694	.	G	A	553.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.034;DP=214;ExcessHet=0;FS=2.814;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.2;ReadPosRankSum=-0.314;SOR=0.815	GT:AD:DP:GQ:PL	0/1:16,23:39:99:564,0,346	6	0	1	0
chr1	185206757	185206757	C	T	exonic	SWT1	.	nonsynonymous SNV	SWT1:NM_001105518:exon13:c.C1966T:p.R656C,SWT1:NM_017673:exon13:c.C1966T:p.R656C	.	.	.	.	.	.	.	.	.	.	.	2341135	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.028	0.0047451824497	0.0002	0.000199681	0.0003	0.0007	0.0005	0.0001	0	7.707e-05	0.0012	0.0012	0.0002846	44	154602	rs145355483	0.0001	0.0001	8.857e-05	0.0001	0.0010	9.195e-05	8.669e-05	0.0008	0.0007	0.0005	0.0003	0	0.0001	0	0.0004	2.177e-05	0.0002	0.0010	0.0003	0.0003	0.0002	0.0003	0.0008	0.0002	0.0002	0.0006	0.0005	0.0008	0	0	0	0.0002	0	0	2.941e-05	0	0.0006	0.232	0.18184	T	1.0	0.01155	T	0.001	0.07471	B	0.0	0.01387	B	0.094255	0.20182	N	0.581390	1	0.08975	N	-1.725	0.00339	N	2.34	0.16351	T	1.98	0.00416	N	0.058	0.03392	-0.9811	0.34748	T	0.012	0.04416	T	10	0.011425197	0.00250	T	0.004745	0.11816	T	0.028	0.06331	.	.	0.0716867268079	0.06686	0.12666276634247908	0.12592	0.191156484107	0.21440	0.24292704463	0.03060	T	0.004624	0.04028	T	-0.619146	0.00111	T	-0.718484	0.04869	T	0.00616188943567177	0.00068	T	0.458954	0.13262	T	0.055429235	0.10772	0.038324337	0.03675	0.055429235	0.10771	0.038324337	0.03675	1.178	0.00111	T	.	.	0.050	0.00191	B	.;.	.;.	0.439639	0.08096	4.826	0.17381338018492751	0.00504	0.01353	0.04639	N	AEFI	0.023627	0.01344	N	-1.56596780837077	0.01443	0.06296861	-1.44958210837581	0.02774	0.1281959	1.20373508974331E-6	0.01202	0.615465	0.37627	0	0.588015	0.36545	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.62	-0.928	0.09916	1.178000	0.31590	1.233000	0.25056	-1.723000	0.00726	0.882000	0.31029	0.017000	0.20586	0.455000	0.28006	0.0:0.2746:0.1262:0.5992	5.904	0.18227	486	0.77016	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	465.27	34	chr1	185206757	.	C	T	465.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.401;DP=195;ExcessHet=0;FS=1.445;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.68;ReadPosRankSum=-0.578;SOR=0.358	GT:AD:DP:GQ:PL	0/1:14,20:34:99:475,0,291	5	0	1	1
chr1	185922482	185922482	T	A	exonic	HMCN1	.	nonsynonymous SNV	HMCN1:NM_031935:exon7:c.T1004A:p.V335D	.	.	.	.	.	.	.	.	.	.	.	2133747	Age_related_macular_degeneration_1|not_specified|not_provided	MONDO:MONDO:0011285,MedGen:C1864205,OMIM:603075|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.126	0.0267798649146	.	.	2.003e-05	0	0.0001	0	0	0	0	6.824e-05	1.29e-05	2	154602	rs138572318	1.095e-05	1.094e-05	9.534e-06	1.238e-05	0.0002	6.48e-06	5.25e-06	9.758e-05	6.956e-05	0.0002	4.479e-05	0	0	0	0	0	9.939e-05	1.161e-05	1.315e-05	1.313e-05	0	2.691e-05	4.827e-05	2.18e-06	8.2e-07	8e-06	2.99e-06	4.827e-05	0	0	0	0	0	0	0	0	0	0.028	0.46129	D	0.019	0.59159	D	0.201	0.29693	B	0.034	0.22546	B	0.004927	0.33255	N	0.321529	0.98514	0.40242	D	0	0.06538	N	0.03	0.62183	T	-2.04	0.46842	N	0.556	0.58117	-1.0868	0.06084	T	0.086	0.33578	T	10	0.22020298	0.38710	T	0.02678	0.49657	D	0.126	0.34673	.	.	0.559961094632	0.55658	0.5822849330037796	0.58157	0.479184190851	0.46961	0.398599088192	0.24873	T	.	.	.	-0.179233	0.23849	T	-0.319386	0.42642	T	0.175730042426554	0.18962	T	0.880312	0.59828	D	0.409432	0.61380	0.33321977	0.59162	0.409432	0.61380	0.33321977	0.59161	-3.755	0.20134	T	.	.	0.124	0.25946	B	.	.	2.384432	0.30609	18.49	0.9763681464064019	0.35057	0.93741	0.59059	D	AEFI	0.513866	0.54148	D	-0.510430166677664	0.21742	1.15607	-0.353935941962926	0.26387	1.457193	0.206654256384164	0.18189	0.615465	0.37627	0	0.573888	0.26702	0	0.547309	0.15389	0	0.655142	0.61905	0	.	.	5.35	0.501	0.16130	1.817000	0.38640	0.991000	0.23192	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.6348:0.0:0.3652	9.400	0.37591	516	0.74704	.	.	.	.	.	.	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	525.44	37	chr1	185922482	.	T	A	525.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.516;DP=202;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.2;ReadPosRankSum=-0.674;SOR=0.859	GT:AD:DP:GQ:PL	0/1:14,23:37:99:536,0,331	6	0	1	0
chr1	185990420	185990420	G	T	exonic	HMCN1	.	nonsynonymous SNV	HMCN1:NM_031935:exon22:c.G3354T:p.Q1118H	.	.	.	.	.	.	.	.	.	.	.	1352655	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.086	0.034208695151	0.0002	0.000199681	0.0001	0.0002	8.661e-05	0	0	0.0001	0	6.064e-05	9.7e-05	15	154602	rs141081235	4.173e-05	4.173e-05	4.084e-05	4.263e-05	0.0008	3.311e-05	3.001e-05	0.0006	0.0005	0.0008	4.472e-05	0	0	0	0	1.619e-05	0.0002	1.159e-05	0.0001	0.0001	8.996e-05	0.0001	0.0004	7.088e-05	5.745e-05	0.0003	0.0002	0.0004	0	0	0	0	0	0	0	0	0	0.027	0.46513	D	0.105	0.38016	T	0.82	0.45712	P	0.699	0.54128	P	0.000000	0.84330	D	0.053623	0.999453	0.47118	D	1.285	0.32305	L	-0.37	0.68892	T	-1.12	0.28906	N	0.398	0.43899	-0.7086	0.60021	T	0.204	0.56114	T	10	0.17706579	0.32722	T	0.034209	0.55518	D	0.086	0.25016	0.504	0.59770	0.731689507483	0.72930	0.6527997766228042	0.65215	0.446448507405	0.44516	0.55565404892	0.46654	T	.	.	.	-0.268554	0.11918	T	-0.344101	0.39880	T	0.0869511216878891	0.10852	T	0.790821	0.43180	T	0.16112903	0.36102	0.14937745	0.35272	0.16112903	0.36101	0.14937745	0.35271	-5.052	0.37399	T	.	.	0.210	0.43828	B	.	.	2.339250	0.29972	18.29	0.99719040457567776	0.81914	0.89279	0.49648	D	AEFGI	0.291298	0.40246	N	-0.0211301501278655	0.40900	2.436953	0.0278478436853132	0.41013	2.456937	6.02708284464162E-4	0.07437	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.79	1.32	0.20897	0.908000	0.28167	-0.250000	0.10515	0.676000	0.76740	1.000000	0.71638	0.008000	0.19753	0.998000	0.85391	0.3209:0.0:0.6791:0.0	11.131	0.47570	408	0.82256	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	400.83	30	chr1	185990420	.	G	T	400.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.081;DP=200;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.36;ReadPosRankSum=1.15;SOR=0.61	GT:AD:DP:GQ:PL	0/1:13,17:30:99:411,0,283	6	0	1	0
chr1	186007199	186007199	G	A	exonic	HMCN1	.	nonsynonymous SNV	HMCN1:NM_031935:exon30:c.G4547A:p.R1516Q	.	.	.	.	.	.	.	.	.	.	.	3077744	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.210	0.0491735708116	.	.	0.0001	0	0.0002	0.0015	0	2.999e-05	0	0	0.00011	17	154602	rs751511835	4.244e-05	4.31e-05	4.631e-05	3.852e-05	0.0006	3.378e-05	3.066e-05	0.0004	0.0004	2.989e-05	0.0002	0	0.0006	1.872e-05	0	1.53e-05	9.94e-05	5.798e-05	7.891e-05	7.881e-05	3.857e-05	0.0001	0.0012	4.5e-05	3.515e-05	0.0005	0.0003	9.657e-05	0	0	0	0.0012	0	0	2.941e-05	0	0	0.324	0.13392	T	0.005	0.72224	D	0.999	0.77913	D	0.99	0.78936	D	0.000001	0.84330	D	0.055755	0.999999	0.58761	D	0.01	0.07948	N	-0.15	0.65192	T	-1.49	0.36385	N	0.68	0.68690	-0.8090	0.54611	T	0.266	0.63695	T	10	0.26088798	0.43542	T	0.049174	0.63698	D	0.210	0.50028	0.427	0.47350	0.820976921018	0.81928	0.638999643963675	0.63833	0.488082802852	0.47620	0.353346645832	0.18414	T	.	.	.	-0.332176	0.05948	T	-0.295476	0.45200	T	0.484624892473221	0.32067	T	0.882612	0.60317	D	0.2358766	0.46430	0.17832144	0.40493	0.2358766	0.46430	0.17832144	0.40493	-1.628	0.02048	T	.	.	0.088	0.11461	B	.	.	4.439852	0.68930	25.3	0.99953465610547543	0.99957	0.98559	0.84088	D	AEFI	0.894647	0.83384	D	0.570212585134092	0.71320	5.633155	0.625717882828513	0.76812	6.561	0.999997875884548	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.76	4.84	0.62125	7.455000	0.79783	8.668000	0.77998	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.07:0.0:0.93:0.0	14.584	0.67906	407	0.82314	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	394.63	47	chr1	186007199	.	G	A	394.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.14;DP=222;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.4;ReadPosRankSum=0.756;SOR=0.839	GT:AD:DP:GQ:PL	0/1:29,18:47:99:405,0,654	6	0	1	0
chr1	186301654	186301654	G	A	exonic	PRG4	.	nonsynonymous SNV	PRG4:NM_001127708:exon3:c.G139A:p.A47T,PRG4:NM_001127710:exon3:c.G139A:p.A47T,PRG4:NM_001127709:exon4:c.G262A:p.A88T,PRG4:NM_001303232:exon4:c.G262A:p.A88T,PRG4:NM_005807:exon4:c.G262A:p.A88T	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.0136168470131	.	.	7.415e-05	0	8.654e-05	0	0	1.498e-05	0	0.0004	5.82e-05	9	154602	rs369769286	3.9e-05	3.967e-05	3.268e-05	4.538e-05	0.0003	3.048e-05	2.783e-05	0.0002	0.0002	0.0003	2.236e-05	0	2.519e-05	0	0.0003	9.894e-06	0.0001	0.0003	1.316e-05	1.97e-05	1.286e-05	1.347e-05	0.0002	2.19e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.471e-05	0	0.0002	0.299	0.45756	T	0.174	0.41913	T	0.919	0.50927	P	0.202	0.36942	B	0.435940	0.04732	N	1.458610	1	0.08975	N	1.205	0.30389	L	0.95	0.43279	T	-1.89	0.44094	N	0.233	0.31253	-1.0466	0.15361	T	0.056	0.23753	T	10	0.05454105	0.05823	T	0.013617	0.33161	T	0.087	0.25287	0.186	0.09517	0.104622674875	0.10061	0.32078947247380907	0.31991	0.0860791266611	0.09724	0.281373649836	0.07684	T	0.023984	0.34066	T	-0.533179	0.00368	T	-0.687495	0.06535	T	0.0744477678979147	0.09262	T	0.049495	0.21745	T	0.016110234	0.00176	0.036907043	0.03233	0.016110234	0.00176	0.036907043	0.03232	-5.244	0.40987	T	.	.	0.152	0.44082	B	.;.;.;.;.;.	.;.;.;.;.;.	0.942165	0.13179	9.680	0.6192354401547514	0.06831	0.03862	0.09223	N	AEFDBI	0.148630	0.27256	N	-1.18980420115225	0.05153	0.2342593	-1.40246452942456	0.03227	0.1501136	0.999930535626016	0.46732	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.62	-11.2	0.00099	-0.944000	0.04022	-1.894000	0.04538	-0.242000	0.07441	0.000000	0.06391	0.000000	0.08366	0.120000	0.19168	0.0548:0.1984:0.1268:0.62	7.906	0.28925	259	0.89842	Somatomedin B domain|Somatomedin B, chordata|Somatomedin B domain|Somatomedin B domain|Somatomedin B domain;Somatomedin B domain|Somatomedin B, chordata|Somatomedin B domain|Somatomedin B domain|Somatomedin B domain;Somatomedin B domain|Somatomedin B, chordata|Somatomedin B domain|Somatomedin B domain|Somatomedin B domain;Somatomedin B domain|Somatomedin B, chordata|Somatomedin B domain|Somatomedin B domain|Somatomedin B 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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	261.44	46	chr1	186301654	.	G	A	261.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.573;DP=221;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.68;ReadPosRankSum=0.645;SOR=0.582	GT:AD:DP:GQ:PL	0/1:32,14:46:99:272,0,743	6	0	1	0
chr1	193075828	193075828	A	G	exonic	RO60	.	nonsynonymous SNV	RO60:NM_001042369:exon3:c.A589G:p.I197V,RO60:NM_001042370:exon3:c.A589G:p.I197V,RO60:NM_001173524:exon3:c.A589G:p.I197V,RO60:NM_001173525:exon3:c.A589G:p.I197V,RO60:NM_004600:exon3:c.A589G:p.I197V	.	432	1082	8	0	0	8	0.00368324	.	.	.	2758848	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.015	0.00398259057835	0.0004	0.000199681	0.0002	0.0001	8.744e-05	0.0003	0	0.0002	0	0.0001	0.0001358	21	154602	rs200525528	0.0001	0.0001	0.0001	0.0001	0.0004	0.0001	0.0001	0.0001	0.0001	0	4.766e-05	0	0.0002	1.878e-05	0.0004	0.0002	0.0002	0.0001	0.0001	0.0001	0.0002	0.0001	0.0004	9.74e-05	8.255e-05	9.051e-05	7.015e-05	0.0001	0	0.0002	0	0	0	0	0.0002	0	0.0004	0.398	0.91255	T	0.453	0.15650	T	0.0	0.02946	B	0.0	0.01387	B	0.006185	0.32207	N	0.356558	1	0.81001	D	0.49	0.13296	N	2.57	0.13552	T	0.06	0.10833	N	0.124	0.12913	-0.9972	0.30701	T	0.017	0.07092	T	10	0.021449089	0.00513	T	0.003983	0.09431	T	0.015	0.02232	.	.	0.143124449307	0.13826	0.07912533439858711	0.07847	0.116420580842	0.13130	0.31076964736	0.12023	T	0.076413	0.35411	T	-0.462164	0.00953	T	-0.569579	0.15488	T	0.0182165447622538	0.00542	T	0.752425	0.37950	T	0.013319344	0.00055	0.024440479	0.00464	0.013319344	0.00055	0.024440479	0.00464	-3.207	0.14193	T	.	.	0.053	0.06710	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.195518	0.15871	12.16	0.77813698264211828	0.12033	0.25768	0.22797	N	AEFBI	0.094360	0.19079	N	-0.888513881011583	0.11116	0.5346699	-0.780562743261856	0.14971	0.7850816	0.999427491371472	0.39630	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.77	-0.903	0.09999	0.057000	0.14157	-0.101000	0.11941	-0.065000	0.16512	0.020000	0.19661	0.000000	0.08366	0.997000	0.79791	0.6271:0.1154:0.2575:0.0	6.556	0.21658	324	0.86790	TROVE domain|TROVE domain;.;TROVE domain|TROVE domain;.;.;.;TROVE domain|TROVE domain;TROVE domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.1429	421.69	5	chr1	193075828	.	A	G	421.69	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.65;DP=68;ExcessHet=0.3476;FS=4.374;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=16.22;ReadPosRankSum=0.524;SOR=1.916	GT:AD:DP:GQ:PL	0/1:3,2:5:61:70,0,61	5	0	2	0
chr1	196959027	196959027	C	T	exonic	CFHR2	.	stopgain	CFHR2:NM_001312672:exon3:c.C388T:p.R130X,CFHR2:NM_005666:exon5:c.C760T:p.R254X	.	436	1076	9	1	0	11	0.00508553	.	.	.	731966	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0002	0.000199681	0.0008	0.0002	0.0012	0.0012	0	0.0009	0.0022	6.091e-05	0.0006986	108	154602	rs41313888	0.0006	0.0006	0.0005	0.0006	0.0075	0.0005	0.0005	0.0057	0.0051	0.0005	0.0013	0.0058	0.0005	0	0.0075	0.0004	0.0011	8.132e-05	0.0006	0.0006	0.0007	0.0006	0.0020	0.0005	0.0005	0.0015	0.0013	0.0003	0	0.0020	0.0029	0.0002	0	0.0068	0.0005	0.0033	0	.	.	.	.	.	.	.	.	.	.	.	.	0.186673	0.16957	N	0.329287	0.999367	0.46798	D	.	.	.	.	.	.	.	.	.	0.1	0.08227	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00399508	0.52205	T	0.192429	0.82707	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant;Tolerant;.;.;.;.	High;High;.;.;.;.	6.333531	0.95033	34	0.71930951763337325	0.09797	0.00991	0.03763	N	AEFI	0.106710	0.21282	N	-0.418099539914448	0.24835	1.344	-0.830307543108602	0.13762	0.7156698	7.12562145627768E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.52	-3.3	0.04692	0.190000	0.16864	-3.605000	0.02663	0.304000	0.19002	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.5086:0.2577:0.0:0.2337	3.518	0.07289	322	0.86904	.;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;.;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.08333	335.27	39	chr1	196959027	.	C	T	335.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.579;DP=198;ExcessHet=0;FS=2.774;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.6;ReadPosRankSum=-0.733;SOR=0.346	GT:AD:DP:GQ:PL	0/1:21,18:39:99:345,0,477	5	0	1	1
chr1	203007553	203007553	C	T	exonic	TMEM183A	.	nonsynonymous SNV	TMEM183A:NM_001322955:exon1:c.C88T:p.H30Y,TMEM183A:NM_001322956:exon1:c.C88T:p.H30Y,TMEM183A:NM_001322957:exon1:c.C88T:p.H30Y,TMEM183A:NM_001322958:exon1:c.C88T:p.H30Y,TMEM183A:NM_001322959:exon1:c.C88T:p.H30Y,TMEM183A:NM_138391:exon1:c.C88T:p.H30Y	.	370	1146	6	0	0	6	0.00261097	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.0276143502092	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.104e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.30235	T	0.137	0.33894	T	0.65	0.40644	P	0.134	0.33146	B	0.000393	0.44960	D	0.224693	0.74323	0.29713	N	1.61	0.41143	L	1.94	0.22678	T	-0.83	0.22727	N	0.348	0.38950	-1.0630	0.11021	T	0.042	0.18160	T	10	0.15943912	0.29957	T	0.027614	0.50408	D	0.039	0.10176	0.232	0.16005	0.043077524339	0.03247	0.13915312214276856	0.13838	0.827125518207	0.67455	0.792491734028	0.80822	T	0.007053	0.06470	T	-0.1577	0.27116	T	-0.464302	0.26132	T	0.917970359325409	0.57603	D	0.931307	0.74459	D	0.19378039	0.41102	0.25867394	0.51603	0.19378039	0.41102	0.25867394	0.51602	-3.997	0.23759	T	.	.	0.118	0.24192	B	.	.	3.288117	0.45079	22.1	0.98620983885288216	0.43771	0.77233	0.37951	D	ALL	0.354613	0.44663	N	0.175044126822749	0.50003	3.194633	0.289311736656459	0.54915	3.655199	0.999999999979867	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	5.34	5.34	0.75982	1.845000	0.38920	3.859000	0.40127	0.525000	0.24333	1.000000	0.71638	1.000000	0.68203	0.526000	0.29613	0.0:0.786:0.214:0.0	12.807	0.57003	753	0.51500	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	390.27	45	chr1	203007553	.	C	T	390.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.517;DP=222;ExcessHet=0;FS=1.197;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.67;ReadPosRankSum=0.141;SOR=0.491	GT:AD:DP:GQ:PL	0/1:28,17:45:99:400,0,722	5	0	1	1
chr1	203798246	203798246	G	C	exonic	ZBED6	.	nonsynonymous SNV	ZBED6:NM_001174108:exon1:c.G724C:p.A242P	.	427	1091	4	0	0	4	0.00182983	.	.	.	2352686	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.186	0.0139777819891	.	0.000199681	0.0002	0	0	0	0	0	0	0.0004	5.82e-05	9	154602	rs571802658	0.0003	0.0003	0.0003	0.0003	0.0068	0.0003	0.0003	0.0051	0.0046	0.0002	8.405e-05	0	0	0	0.0068	0.0003	0.0004	0.0002	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	0.0001	0.0002	0.0002	2.406e-05	0	0.0002	0	0	0	0.0102	0.0003	0.0005	0	0.032	0.44694	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	0	0.06538	N	.	.	.	0.2	0.04861	N	0.256	0.28965	-0.8831	0.49513	T	0.111	0.39794	T	6	0.05215606	0.05207	T	0.013978	0.33782	T	0.186	0.46104	.	.	0.151104730317	0.14643	0.4101160173848844	0.40927	.	.	0.56683409214	0.48231	T	0.001793	0.01214	T	-0.107753	0.35141	T	-0.0744826	0.65305	T	0.0439972758264554	0.04419	T	0.561544	0.19673	T	0.30434647	0.53292	0.42488033	0.66314	0.30434647	0.53292	0.42488033	0.66314	-4.155	0.26097	T	.	.	0.429	0.61130	A	.	.	4.575094	0.72214	25.8	0.99547663534067765	0.70898	0.89114	0.49387	D	AEFDBHCIJ	0.533171	0.55273	D	0.136272020587185	0.48162	3.032083	0.254130782732214	0.52884	3.460368	0.999999999999878	0.74766	0.645754	0.44609	0	0.685571	0.66316	0	0.575934	0.27490	0	0.723	0.93126	0	.	.	4.56	4.56	0.55644	1.970000	0.40144	8.109000	0.76585	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	13.148	0.58891	460	0.78750	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001634	0.000000	0.000000	0.012987	0.000000	0.000000	0.000000	0.000000	0.07143	1480.44	106	chr1	203798246	.	G	C	1480.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1;DP=365;ExcessHet=0;FS=4.704;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.97;ReadPosRankSum=-0.003;SOR=0.6	GT:AD:DP:GQ:PL	0/1:51,55:106:99:1491,0,1275	6	0	1	0
chr1	204444147	204444147	A	G	exonic	PIK3C2B	.	nonsynonymous SNV	PIK3C2B:NM_001377334:exon18:c.T2788C:p.C930R,PIK3C2B:NM_002646:exon20:c.T2788C:p.C930R,PIK3C2B:NM_001377335:exon21:c.T2704C:p.C902R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.372	0.0699442069728	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.034	0.53788	D	0.999	0.77913	D	0.985	0.76457	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.83	0.20963	L	0.14	0.60854	T	-5.22	0.83830	D	0.861	0.86191	-0.7225	0.59339	T	0.246	0.61530	T	10	0.6625425	0.70238	D	0.069944	0.70868	D	0.372	0.69102	0.335	0.32329	0.796189045978	0.79428	0.5671153260514122	0.56639	1.38482303822	0.84866	0.874912202358	0.93263	D	0.60522	0.87406	D	0.279203	0.81249	D	0.163279	0.81006	D	0.975287973880768	0.70867	D	0.739426	0.52772	T	0.74623775	0.80650	0.7226829	0.83623	0.74623775	0.80652	0.7226829	0.83624	-7.62	0.58450	D	.	.	0.819	0.87226	P	.;.	.;.	4.639661	0.73847	26.1	0.99796849897327999	0.88194	0.90532	0.51786	D	ALL	0.673803	0.63974	D	0.263763222116594	0.54323	3.598145	0.384514743775906	0.60611	4.250483	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.674467	0.66132	0	.	.	5.98	5.98	0.97147	3.831000	0.55477	11.132000	0.86827	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.961000	0.51904	0.9272:0.0:0.0728:0.0	10.472	0.43830	648	0.63242	Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain;Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	333.34	69	chr1	204444147	.	A	G	333.34	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-4.307;DP=565;ExcessHet=0.3476;FS=324.178;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=1.78;ReadPosRankSum=1.51;SOR=8.525	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:52,17:69:99:.:.:157,0,1108:.	5	0	2	0
chr1	206010341	206010341	C	T	exonic	CTSE	.	nonsynonymous SNV	CTSE:NM_001910:exon9:c.G1033A:p.V345M	.	422	1096	4	0	0	4	0.00182149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.00438121497209	.	.	.	.	.	.	.	.	.	.	.	.	.	rs145069780	0.0027	0.0027	0.0027	0.0026	0.0032	0.0026	0.0026	0.0031	0.0031	0.0004	0.0007	0.0003	0.0005	0.0002	0	0.0032	0.0019	0.0019	0.0013	0.0013	0.0013	0.0012	0.0021	0.0011	0.0011	0.0018	0.0017	0.0003	0	0.0011	0.0003	0.0006	0.0004	0	0.0021	0.0014	0.0015	0.07	0.35349	T	0.106	0.37872	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	0.57575	T	0.17	0.05125	N	0.145	0.14622	.	.	.	.	.	.	.	0.04523146	0.03569	T	.	.	.	.	.	.	.	.	.	0.7419575988196351	0.74141	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.633837	0.24812	T	.	.	.	.	.	.	.	.	-4.205	0.26824	T	.	.	0.132	0.28406	B	.	.	2.436677	0.31353	18.72	.	.	.	.	.	.	0.040683	0.06085	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.432000	0.21180	1.230000	0.25036	0.519000	0.23678	0.000000	0.06391	0.002000	0.18203	0.681000	0.33571	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.07143	695.53	69	chr1	206010341	.	C	T	695.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.084;DP=243;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.08;ReadPosRankSum=0.21;SOR=0.663	GT:AD:DP:GQ:PL	0/1:36,33:69:99:706,0,839	6	0	1	0
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	1/1:0,3:3:9:79,9,0	4	1	1	1
chr1	214334267	214334267	G	T	exonic	SMYD2	.	nonsynonymous SNV	SMYD2:NM_020197:exon11:c.G1180T:p.G394C	.	429	1061	32	0	0	32	0.0148561	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.347	0.0246475474506	0.0012	0.00179712	0.0024	0.0004	0.0018	0	0	0.0016	0.0022	0.0095	0.0021927	339	154602	rs141849218	0.0016	0.0016	0.0013	0.0019	0.0104	0.0015	0.0015	0.0098	0.0096	0.0003	0.0013	0.0003	0	7.49e-05	0.0074	0.0011	0.0024	0.0104	0.0011	0.0011	0.0010	0.0012	0.0075	0.0009	0.0009	0.0055	0.0049	0.0003	0	0.0011	0	0.0002	0	0.0068	0.0013	0.0024	0.0075	0.113	0.28772	T	0.004	0.74150	D	0.989	0.62824	D	0.839	0.60107	P	0.000000	0.84330	D	0.045767	0.999984	0.81001	D	2.485	0.72352	M	-0.08	0.63911	T	-3.57	0.68999	D	0.686	0.69213	-0.4774	0.69462	T	0.384	0.73988	T	10	0.011113286	0.00244	T	0.024648	0.47637	T	0.347	0.66863	.	.	0.853526577216	0.85211	0.6862089810114786	0.68560	0.997451953507	0.74294	0.495258688927	0.38167	T	0.117304	0.43730	T	-0.208229	0.19630	T	-0.0639211	0.66057	T	0.0421018828007218	0.04074	T	0.920408	0.71216	D	0.7846071	0.82938	0.47182155	0.69378	0.7846071	0.82940	0.47182155	0.69378	-5.469	0.41578	T	.	.	0.398	0.59438	A	.	.	4.965701	0.82135	27.7	0.99699454157993372	0.80522	0.94898	0.62713	D	AEFDGBCIJ	0.864674	0.78354	D	0.721358354184708	0.81032	7.428307	0.751209301204187	0.86247	8.828641	0.999999999999031	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.688494	0.62686	0	0.645665	0.59343	0	.	.	6.17	6.17	0.99707	5.045000	0.64027	9.999000	0.83031	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	20.879	0.99870	912	0.21483	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006042	0.005051	0.004076	0.002924	0.000000	0.000000	0.018293	0.000000	0.07143	1225.44	109	chr1	214334267	.	G	T	1225.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.724;DP=306;ExcessHet=0;FS=1.539;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.24;ReadPosRankSum=-0.109;SOR=0.873	GT:AD:DP:GQ:PL	0/1:53,56:109:99:1236,0,1290	6	0	1	0
chr1	214645556	214645556	A	G	exonic	CENPF	.	nonsynonymous SNV	CENPF:NM_016343:exon13:c.A5986G:p.S1996G	Stromme syndrome, Autosomal recessive	421	1098	2	1	0	4	0.00181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.00307557025383	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1420651187	4.104e-06	4.104e-06	5.445e-06	2.75e-06	5.396e-06	1.48e-06	9.7e-07	1.94e-06	1.28e-06	0	0	0	0	0	0	5.396e-06	0	0	6.57e-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	0.402	0.10412	T	0.394	0.15305	T	.	.	.	.	.	.	0.506143	0.05120	N	1.366580	1	0.08975	N	.	.	.	0.78	0.49358	T	-1.06	0.27669	N	0.103	0.08646	-1.0330	0.19490	T	0.053	0.22655	T	10	0.043306947	0.03165	T	0.003076	0.06636	T	0.057	0.16321	.	.	0.0482279557977	0.04254	0.015535985324263656	0.01509	0.0497193645507	0.05451	0.249759674072	0.03742	T	.	.	.	-0.314934	0.07320	T	-0.674671	0.07313	T	0.0314089257149707	0.02212	T	0.489851	0.15048	T	0.026220506	0.01653	0.033440735	0.02239	0.026220506	0.01653	0.033440735	0.02239	-4.957	0.36370	T	.	.	0.056	0.00496	B	.	.	-0.330764	0.02486	0.290	0.60498897640054228	0.06478	0.01885	0.05793	N	AEFBCI	0.021908	0.01031	N	-1.42816029369839	0.02394	0.105666	-1.40199971513235	0.03232	0.150352	0.834263486472987	0.24748	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.23	-2.13	0.06745	-0.281000	0.08489	0.053000	0.14027	-0.168000	0.11412	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.4817:0.0:0.5183:0.0	13.061	0.58416	901	0.24189	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	780.44	46	chr1	214645556	.	A	G	780.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.071;DP=237;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.97;ReadPosRankSum=1.39;SOR=0.763	GT:AD:DP:GQ:PL	0/1:18,28:46:99:791,0,474	6	0	1	0
chr1	215680331	215680331	T	C	exonic	USH2A	.	nonsynonymous SNV	USH2A:NM_206933:exon62:c.A12112G:p.T4038A	Retinitis pigmentosa 39;Usher syndrome, type 2A, Autosomal recessive	0	1516	5	1	0	7	0.00230339	.	.	.	858903	Retinitis_pigmentosa_39|Usher_syndrome_type_2A|Inborn_genetic_diseases|not_provided	MONDO:MONDO:0013436,MedGen:C3151138,OMIM:613809,Orphanet:791|MONDO:MONDO:0010169,MedGen:C1848634,OMIM:276901,Orphanet:231178,Orphanet:886|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.243	0.322929554422	.	.	3.299e-05	0	0	0	0	5.996e-05	0	0	2.59e-05	4	154602	rs754979740	4.583e-05	4.583e-05	5.717e-05	3.438e-05	0.0010	3.661e-05	3.347e-05	0.0005	0.0003	0	0	0	0	0	0.0010	4.946e-05	9.934e-05	0	2.629e-05	2.627e-05	2.57e-05	2.691e-05	6.551e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	6.551e-05	0	0	0	0	4.41e-05	0	0	0.137	0.25979	T	0.058	0.46182	T	0.992	0.64738	D	0.887	0.62952	P	0.000296	0.46274	D	0.000000	0.526296	0.31528	N	1.76	0.45711	L	0.4	0.57261	T	-2.37	0.52289	N	0.094	0.07398	-0.7363	0.58642	T	0.216	0.57745	T	10	0.61584055	0.67700	D	0.32293	0.91528	D	0.243	0.54921	.	.	0.837083782604	0.83553	0.4737459772398402	0.47293	0.0335984887463	0.03527	0.322042942047	0.13731	T	0.095618	0.39657	T	-0.157273	0.27182	T	-0.307322	0.43947	T	0.133371478305574	0.15690	T	0.552645	0.19087	T	0.14400096	0.33072	0.17915915	0.40633	0.14400096	0.33072	0.17915915	0.40632	-5.196	0.38901	T	0.457450626276204	0.54020	0.073	0.04558	B	.	.	0.802268	0.11727	8.307	0.90258052451502069	0.19528	0.90504	0.51735	D	AEFBI	0.260781	0.37886	N	0.0634956574525399	0.44764	2.744671	-0.0032997096804105	0.39566	2.347937	0.0170806997554493	0.12909	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.26	5.26	0.73479	1.880000	0.39263	0.137000	0.15122	0.665000	0.62972	0.963000	0.33788	0.000000	0.08366	0.088000	0.17685	0.0:0.0:0.0:1.0	15.186	0.72687	656	0.62345	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	762.49	69	chr1	215680331	.	T	C	762.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.897;DP=244;ExcessHet=0;FS=4.707;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.05;ReadPosRankSum=-1.132;SOR=0.789	GT:AD:DP:GQ:PL	0/1:37,32:69:99:773,0,904	6	0	1	0
chr1	215728209	215728209	C	T	exonic	USH2A	.	nonsynonymous SNV	USH2A:NM_206933:exon61:c.G11887A:p.A3963T	Retinitis pigmentosa 39;Usher syndrome, type 2A, Autosomal recessive	0	1517	5	0	0	5	0.00164528	.	.	.	1199710	Retinitis_pigmentosa_39|Usher_syndrome_type_2A	MONDO:MONDO:0013436,MedGen:C3151138,OMIM:613809,Orphanet:791|MONDO:MONDO:0010169,MedGen:C1848634,OMIM:276901,Orphanet:231178,Orphanet:886	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.220	0.448362407899	.	0.000199681	1.648e-05	0	0	0	0	0	0	0.0001	1.94e-05	3	154602	rs541566194	1.026e-05	1.026e-05	8.167e-06	1.238e-05	0.0002	6.16e-06	4.89e-06	7.123e-05	5.481e-05	0	0	0	0	0	0.0002	0	4.967e-05	0.0001	6.567e-06	6.561e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.018	0.50676	D	0.0	0.92824	D	1.0	0.90584	D	0.96	0.70309	D	0.000526	0.43581	D	0.000000	0.999999	0.58761	D	2.73	0.79844	M	0.5	0.55608	T	-2.28	0.50830	N	0.476	0.51137	-0.2873	0.75340	T	0.397	0.74937	T	10	0.5517782	0.64296	D	0.448362	0.94295	D	0.220	0.51569	0.253	0.19223	0.943251905954	0.94266	0.4370003679344988	0.43617	0.231425101248	0.25697	0.368225187063	0.20577	T	0.142744	0.47849	T	-0.136529	0.30444	T	-0.252363	0.49583	T	0.939245700836182	0.61054	D	0.824018	0.48536	T	0.1734728	0.38098	0.19529459	0.43199	0.1734728	0.38097	0.19529459	0.43198	-7.249	0.55832	T	0.7964456293029578	0.87403	0.14	0.30686	B	.	.	3.466621	0.48348	22.6	0.99898181450286294	0.97048	0.97987	0.78661	D	AEFBI	0.733125	0.67966	D	0.762875788176582	0.83740	8.09744	0.718514951973846	0.83786	8.113735	0.999999505122598	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.53	5.53	0.82530	4.722000	0.61651	3.396000	0.38099	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.927000	0.46353	0.0:1.0:0.0:0.0	19.456	0.94882	620	0.66037	Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1186.49	79	chr1	215728209	.	C	T	1186.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.456;DP=271;ExcessHet=0;FS=0.868;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.02;ReadPosRankSum=-1.537;SOR=0.591	GT:AD:DP:GQ:PL	0/1:31,48:79:99:1197,0,754	6	0	1	0
chr1	222547818	222547818	C	T	exonic	HHIPL2	.	nonsynonymous SNV	HHIPL2:NM_024746:exon1:c.G227A:p.R76H	.	427	1090	5	0	0	5	0.00228833	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	.	0.0068	0.0071885	0.0027	0.0198	0.0054	0	0	0.0009	0.0078	0.0002	0.0025097	388	154602	rs61740543	0.0012	0.0012	0.0013	0.0010	0.0209	0.0011	0.0011	0.0197	0.0191	0.0209	0.0046	0.0059	2.519e-05	0	0.0049	0.0004	0.0027	0.0001	0.0065	0.0065	0.0068	0.0062	0.0206	0.0062	0.0061	0.0194	0.0190	0.0206	0	0.0050	0.0078	0	0	0	0.0004	0.0057	0	0.13	0.26740	T	0.177	0.29740	T	0.001	0.07471	B	0.009	0.14300	B	0.432717	0.12728	N	0.706664	1	0.08975	N	0.64	0.16041	N	1.81	0.25182	T	0.55	0.02721	N	0.043	0.01577	-1.0441	0.16089	T	0.012	0.04416	T	10	0.003047675	0.00050	T	.	.	.	0.036	0.09122	.	.	0.0401082797425	0.02173	0.2261501864060996	0.22530	0.216145139053	0.24139	0.266880214214	0.05737	T	0.001029	0.00556	T	-0.677754	0.00049	T	-0.730067	0.04324	T	0.00688368849978145	0.00078	T	0.712529	0.32403	T	0.030045254	0.02601	0.05429885	0.09312	0.030045254	0.02601	0.05429885	0.09311	-4.617	0.32385	T	.	.	0.062	0.01233	B	.	.	0.073485	0.04813	1.419	0.82263136058016106	0.14102	0.01621	0.05236	N	AEFBCI	0.027693	0.02306	N	-1.23347345471818	0.04522	0.204266	-1.2990431563237	0.04444	0.2096319	0.999987454212537	0.51787	0.446893	0.09132	0	0.547309	0.14657	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.93	-5.61	0.02291	-0.111000	0.10778	-4.129000	0.02326	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.095000	0.18041	0.1077:0.2815:0.1094:0.5014	2.814	0.05116	905	0.23532	Folate receptor-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006042	0.025253	0.002717	0.008772	0.000000	0.000000	0.003049	0.000000	0.08333	1017.27	77	chr1	222547818	.	C	T	1017.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.963;DP=252;ExcessHet=0;FS=1.908;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.21;ReadPosRankSum=0.486;SOR=0.538	GT:AD:DP:GQ:PL	0/1:32,45:77:99:1027,0,738	5	0	1	1
chr1	228259762	228259762	G	A	exonic	OBSCN	.	nonsynonymous SNV	OBSCN:NM_001271223:exon17:c.G5123A:p.R1708H	.	0	1489	33	0	0	33	0.0109598	.	.	.	2816140	not_provided|OBSCN-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.014	.	0.0080	0.00239617	0.0084	0.0018	0.0030	0	0.0036	0.0133	0.0056	0.0024	0.0078783	1218	154602	rs147633098	0.0093	0.0093	0.0093	0.0093	0.0220	0.0092	0.0091	0.0189	0.0177	0.0016	0.0045	0.0283	0.0001	0.0060	0.0220	0.0102	0.0099	0.0026	0.0067	0.0067	0.0071	0.0063	0.0103	0.0064	0.0062	0.0097	0.0094	0.0017	0.0241	0.0046	0.0202	0	0.0051	0.0272	0.0103	0.0071	0.0017	.	.	.	0.081	0.41742	T	.	.	.	.	.	.	.	.	.	.	0.999999	0.20609	N	.	.	.	3.56	0.04696	T	.	.	.	0.073	0.04668	-0.9723	0.36712	T	0.011	0.04321	T	6	0.003629744	0.00066	T	.	.	.	.	.	.	.	0.256793551483	0.25290	0.16994627065651727	0.16914	0.115633920596	0.13049	0.202615946531	0.00537	T	.	.	.	-0.695139	0.00039	T	-0.760908	0.03080	T	0.00463822941397851	0.00050	T	0.20008	0.02257	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	-0.010789	0.04210	1.027	0.81329423621141439	0.13632	0.01331	0.04588	N	AEFDBI	0.063747	0.12339	N	-0.793613011190379	0.13475	0.6641176	-0.938894624292241	0.11182	0.5680889	1.9642407017775E-4	0.05898	0.660377	0.49826	0	0.573888	0.26702	0	0.696353	0.63694	0	0.613276	0.41899	0	.	.	5.25	-2.54	0.05941	-1.658000	0.02079	-20.000000	0.00162	-0.887000	0.02411	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.6034:0.0:0.3966:0.0	12.965	0.57880	452	0.79239	Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype	TRIM11|RP11-245P10.4|TRIM17|GUK1|TRIM11	Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Nucleus_accumbens_basal_ganglia|Skin_Sun_Exposed_Lower_leg	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.07143	1490.44	105	chr1	228259762	.	G	A	1490.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.057;DP=293;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.19;ReadPosRankSum=-1.061;SOR=0.668	GT:AD:DP:GQ:PL	0/1:53,52:105:99:1501,0,1398	6	0	1	0
chr1	231338447	231338447	C	T	exonic	SPRTN	.	nonsynonymous SNV	SPRTN:NM_001010984:exon1:c.C64T:p.R22C,SPRTN:NM_001261462:exon1:c.C64T:p.R22C,SPRTN:NM_032018:exon1:c.C64T:p.R22C	Ruijs-Aalfs syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.0290947025919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	0	2.75e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.45393	D	0.051	0.51112	T	0.969	0.59353	D	0.34	0.48105	B	0.206743	0.16464	N	0.634329	1	0.08975	N	1.5	0.37844	L	0.83	0.47815	T	-1.94	0.45042	N	0.109	0.22228	-0.9504	0.40903	T	0.123	0.42505	T	10	0.09252322	0.16300	T	0.029095	0.51667	D	0.035	0.08770	0.22	0.14224	0.225033846419	0.22103	0.7478124642899863	0.74727	1.15950770778	0.79429	0.365570008755	0.20194	T	0.059935	0.31249	T	-0.243029	0.14966	T	-0.586871	0.13939	T	0.103916436433792	0.12782	T	0.857514	0.54891	D	0.1104816	0.26113	0.09728794	0.23152	0.1104816	0.26113	0.09728794	0.23151	-6.125	0.50023	T	.	.	0.121	0.30238	B	.;.;.	.;.;.	1.855045	0.23566	16.07	0.99279793046958908	0.57869	0.03204	0.08201	N	ALL	0.049378	0.08525	N	-0.446161466993311	0.23871	1.284943	-0.5641209332509	0.20432	1.100757	0.999999999883946	0.74766	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.86	2.84	0.32241	0.001000	0.12940	-0.045000	0.12619	-0.331000	0.05774	0.001000	0.13787	0.006000	0.19429	0.003000	0.05239	0.1333:0.5454:0.1465:0.1748	3.176	0.06177	678	0.60190	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	747.53	79	chr1	231338447	.	C	T	747.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.587;DP=251;ExcessHet=0;FS=0.844;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.46;ReadPosRankSum=2.06;SOR=0.58	GT:AD:DP:GQ:PL	0/1:42,37:79:99:758,0,976	6	0	1	0
chr1	235981618	235981618	C	T	exonic	NID1	.	nonsynonymous SNV	NID1:NM_002508:exon16:c.G3220A:p.V1074M	.	.	.	.	.	.	.	.	.	.	.	4021245	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.034	0.00718858179288	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1224266142	5.483e-06	6.156e-06	2.727e-06	8.268e-06	0.0002	2.36e-06	1.71e-06	1.94e-06	1.28e-06	0	0	0	0	0	0.0002	5.401e-06	1.659e-05	0	1.314e-05	1.313e-05	0	2.689e-05	6.541e-05	2.18e-06	8.2e-07	.	.	0	0	6.541e-05	0	0	0	0	1.47e-05	0	0	0.04	0.42199	D	0.062	0.46182	T	0.356	0.37905	B	0.006	0.18489	B	0.043719	0.23712	N	0.485095	1	0.08975	N	1.54	0.38927	L	1.52	0.30669	T	-1.42	0.34992	N	0.235	0.26475	-1.0538	0.13359	T	0.044	0.18865	T	10	0.1391778	0.26465	T	0.007189	0.19061	T	0.034	0.08419	0.578	0.70347	0.260249123532	0.25628	0.6042341303907093	0.60354	0.219647916511	0.24509	0.383094578981	0.22695	T	0.124088	0.44888	T	-0.241381	0.15173	T	-0.584504	0.14145	T	0.118494383990765	0.14282	T	0.343766	0.07508	T	0.043493528	0.06788	0.07219032	0.15545	0.043493528	0.06788	0.07219032	0.15544	-6.898	0.56174	T	0.15521950927180894	0.18592	0.121	0.25000	B	.;.	.;.	1.451294	0.18725	13.89	0.98354259187540438	0.40578	0.14072	0.18207	N	AEFBI	0.268992	0.38537	N	-0.624496539530198	0.18210	0.9436023	-0.593522914215732	0.19661	1.055872	0.995234551476193	0.34019	0.706298	0.61202	0	0.53679	0.11191	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.87	2.58	0.30011	-0.275000	0.08557	-6.111000	0.01493	-0.811000	0.03066	0.000000	0.06391	0.000000	0.08366	0.070000	0.16646	0.0:0.6046:0.122:0.2734	7.279	0.25474	386	0.83455	.;.	.	.	.	.	.	Likely benign	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	648.44	70	chr1	235981618	.	C	T	648.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.014;DP=253;ExcessHet=0;FS=0.913;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.26;ReadPosRankSum=0.006;SOR=0.568	GT:AD:DP:GQ:PL	0/1:40,30:70:99:659,0,965	6	0	1	0
chr1	243330649	243330649	T	C	exonic	SDCCAG8	.	nonsynonymous SNV	SDCCAG8:NM_001350249:exon10:c.T884C:p.M295T,SDCCAG8:NM_006642:exon10:c.T1178C:p.M393T,SDCCAG8:NM_001350247:exon11:c.T275C:p.M92T,SDCCAG8:NM_001350248:exon11:c.T1274C:p.M425T,SDCCAG8:NM_001350246:exon12:c.T275C:p.M92T,SDCCAG8:NM_001350251:exon13:c.T275C:p.M92T	Bardet-Biedl syndrome 16, Autosomal recessive;Senior-Loken syndrome 7	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.0097323393981	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.848e-07	6.841e-07	1.363e-06	0	9.004e-07	0	0	.	.	0	0	0	0	0	0	9.004e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.338	0.25768	T	0.033	0.53072	D	0.288	0.32258	B	0.142	0.33681	B	0.014502	0.28512	N	0.453510	0.991261	0.24058	N	2.35	0.67516	M	0.96	0.42888	T	-1.36	0.39119	N	0.326	0.36674	-1.0039	0.28785	T	0.097	0.36393	T	10	0.17887664	0.32995	T	0.009732	0.25404	T	0.074	0.21613	0.189	0.09907	0.483448007585	0.47975	0.09831529846527605	0.09762	0.077331380461	0.08693	0.505008280277	0.39526	T	0.01979	0.21521	T	-0.0887363	0.38287	T	-0.36524	0.37444	T	0.598834455013275	0.36354	D	0.759724	0.38410	T	0.19019835	0.40594	0.10757766	0.25900	0.19019835	0.40594	0.10757766	0.25899	-6.297	0.48698	T	0.14363118300184172	0.16344	0.331	0.55320	B	.;.	.;.	2.324314	0.29769	18.23	0.95285732624943364	0.26586	0.92014	0.54755	D	AEFBI	0.442092	0.49996	N	-0.0401053196164673	0.40046	2.371564	0.107935306068944	0.44954	2.767287	0.989291218126179	0.31780	0.638212	0.43195	0	0.653731	0.59785	0	0.653264	0.51672	0	0.635551	0.53088	0	.	.	5.78	5.78	0.91418	4.591000	0.60729	3.506000	0.38809	0.665000	0.62972	0.999000	0.42656	1.000000	0.68203	0.888000	0.42677	0.0:0.0:0.0:1.0	12.493	0.55251	590	0.68897	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	350.92	121	chr1	243330649	.	T	C	350.92	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-3.776;DP=555;ExcessHet=0.4139;FS=122.334;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.46;ReadPosRankSum=2.7;SOR=7.427	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:100,21:121:99:0|1:243330649_T_C:259,0,3358:243330649	4	0	2	1
chr1	243330650	243330650	G	A	exonic	SDCCAG8	.	nonsynonymous SNV	SDCCAG8:NM_001350249:exon10:c.G885A:p.M295I,SDCCAG8:NM_006642:exon10:c.G1179A:p.M393I,SDCCAG8:NM_001350247:exon11:c.G276A:p.M92I,SDCCAG8:NM_001350248:exon11:c.G1275A:p.M425I,SDCCAG8:NM_001350246:exon12:c.G276A:p.M92I,SDCCAG8:NM_001350251:exon13:c.G276A:p.M92I	Bardet-Biedl syndrome 16, Autosomal recessive;Senior-Loken syndrome 7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.00632597119373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01950	T	0.234	0.24840	T	0.0	0.02946	B	0.002	0.06944	B	0.014502	0.28512	N	0.453510	0.998133	0.22332	N	1.655	0.42436	L	0.94	0.43672	T	-0.36	0.13805	N	0.134	0.13055	-1.0378	0.17985	T	0.059	0.24871	T	10	0.06551871	0.08850	T	0.006326	0.16610	T	0.032	0.07718	0.2	0.11384	0.277730125212	0.27379	0.06689497572896488	0.06627	0.0422791242989	0.04555	0.43775510788	0.30270	T	0.015516	0.13294	T	-0.198068	0.21084	T	-0.522287	0.20064	T	0.111812710762024	0.13609	T	0.748825	0.36981	T	0.06465344	0.13740	0.049524207	0.07586	0.06465344	0.13740	0.049524207	0.07585	-4.367	0.29106	T	0.08085815892315676	0.04119	0.334	0.55487	B	.;.	.;.	1.361264	0.17704	13.32	0.69353412739573272	0.08945	0.80020	0.39772	D	AEFBI	0.121707	0.23650	N	-0.389817834839874	0.25830	1.405158	-0.219855073360214	0.30825	1.738947	0.037651775745868	0.14308	0.638212	0.43195	0	0.653731	0.59785	0	0.653264	0.51672	0	0.635551	0.53088	0	.	.	5.78	3.84	0.43422	1.754000	0.37998	4.467000	0.43481	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.887000	0.42601	0.093:0.0:0.7284:0.1787	6.558	0.21666	590	0.68897	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	250.68	121	chr1	243330650	.	G	A	250.68	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-4.534;DP=639;ExcessHet=0.4139;FS=98.568;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.84;ReadPosRankSum=1.43;SOR=8.688	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:100,21:121:99:0|1:243330649_T_C:259,0,3358:243330649	4	0	2	1
chr2	1649483	1649483	A	T	exonic	PXDN	.	nonsynonymous SNV	PXDN:NM_012293:exon17:c.T2297A:p.L766Q	Anterior segment dysgenesis 7, with sclerocornea, Autosomal recessive	417	1100	4	1	0	6	0.00271985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.812	0.279160792007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.737e-06	2.736e-06	4.084e-06	1.375e-06	0.0003	6.4e-07	4.3e-07	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	0	3.313e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.992	0.80445	D	0.000001	0.62929	D	0.000000	0.999997	0.58761	D	2.735	0.79925	M	-0.58	0.71425	T	-4.81	0.80767	D	0.953	0.96187	0.259	0.86900	D	0.572	0.84526	D	10	0.95434815	0.94787	D	0.279161	0.90167	D	0.812	0.93931	0.847	0.95025	0.842033681576	0.84052	0.9231741529360961	0.92294	1.25728808862	0.81941	0.786598563194	0.79925	T	0.316257	0.68781	T	0.24306	0.77950	D	0.111362	0.77663	D	0.995983307977641	0.88445	D	0.878612	0.59406	D	0.88172776	0.89810	0.84841245	0.91398	0.88172776	0.89811	0.84841245	0.91399	-9.957	0.73654	D	0.6066953501387351	0.67402	0.845	0.79489	P	.	.	4.551869	0.71641	25.7	0.99532410527527981	0.69963	0.97969	0.78517	D	AEFDBCI	0.943158	0.94863	D	0.865333235960065	0.89963	10.19321	0.818679056556194	0.91060	10.69934	0.999999999999209	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.63	5.63	0.86108	9.206000	0.94186	11.029000	0.85041	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.884000	0.42379	1.0:0.0:0.0:0.0	15.883	0.78998	804	0.43891	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	1589.44	120	chr2	1649483	.	A	T	1589.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.855;DP=335;ExcessHet=0;FS=0.681;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.25;ReadPosRankSum=1.42;SOR=0.822	GT:AD:DP:GQ:PL	0/1:58,62:120:99:1600,0,1541	6	0	1	0
chr2	27472341	27472341	T	A	exonic	IFT172	.	nonsynonymous SNV	IFT172:NM_015662:exon15:c.A1433T:p.N478I	Retinitis pigmentosa 71, Autosomal recessive;Short-rib thoracic dysplasia 10 with or without polydactyly, Autosomal recessive	431	1073	18	0	0	18	0.00831793	.	.	.	655441	not_provided|IFT172-related_disorder|Short-rib_thoracic_dysplasia_10_with_or_without_polydactyly|Retinitis_pigmentosa_71	MedGen:C3661900|.|MONDO:MONDO:0014284,MedGen:C3810175,OMIM:615630,Orphanet:474|MONDO:MONDO:0014618,MedGen:C4225342,OMIM:616394,Orphanet:791	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.172	.	0.0008	0.00219649	0.0025	0.0004	0.0002	0.0001	0.0008	0.0015	0.0077	0.0115	0.0022898	354	154602	rs143491198	0.0016	0.0016	0.0013	0.0019	0.0120	0.0016	0.0016	0.0114	0.0111	0.0001	0.0002	0.0007	7.557e-05	0.0005	0.0017	0.0011	0.0013	0.0120	0.0009	0.0009	0.0008	0.0010	0.0104	0.0008	0.0007	0.0081	0.0073	0.0001	0	0.0001	0.0009	0	0.0002	0	0.0010	0.0009	0.0104	0.1	0.30515	T	0.106	0.37872	T	0.009	0.15093	B	0.006	0.12133	B	0.000000	0.84330	D	0.042417	0.998953	0.45755	D	1.155	0.29575	L	1.92	0.23082	T	-2.71	0.57762	D	0.858	0.85449	-1.0993	0.04177	T	0.044	0.18783	T	10	0.006679505	0.00151	T	.	.	.	0.172	0.43662	.	.	0.29527378943	0.29149	0.5422393569389612	0.54148	0.231291284145	0.25673	0.467749267817	0.34371	T	0.529917	0.83714	D	-0.402207	0.02239	T	-0.340131	0.40331	T	0.0335657611873292	0.02564	T	0.883212	0.60517	D	0.33794796	0.56115	0.24419864	0.49881	0.38292283	0.59528	0.20657907	0.44877	-7.117	0.58701	T	0.2225428325644516	0.30030	0.134	0.37633	B	.;.;.	.;.;.	3.065820	0.41192	21.3	0.96809773651058384	0.31184	0.99143	0.91861	D	AEFDBI	0.575185	0.57768	D	-0.115689624455432	0.36710	2.125554	0.0693025319933335	0.43015	2.612065	0.981649734856931	0.30291	0.706548	0.73137	0	0.670034	0.63936	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.69	4.54	0.55220	5.606000	0.67324	6.103000	0.53575	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.1581:0.0:0.8419	8.490	0.32255	72	0.96948	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004028	0.000000	0.000000	0.002924	0.000000	0.000000	0.006098	0.015152	0.07143	384.63	47	chr2	27472341	.	T	A	384.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.305;DP=222;ExcessHet=0;FS=4.273;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.18;ReadPosRankSum=0.58;SOR=1.394	GT:AD:DP:GQ:PL	0/1:29,18:47:99:395,0,711	6	0	1	0
chr2	28582447	28582447	G	A	exonic	PLB1	.	nonsynonymous SNV	PLB1:NM_001170585:exon24:c.G1642A:p.V548I,PLB1:NM_153021:exon25:c.G1675A:p.V559I	.	425	1092	5	0	0	5	0.00228415	.	.	.	708214	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.009	.	0.0060	0.0175719	0.0085	0.0212	0.0014	0.0001	0	0.0002	0.0013	0.0465	0.0064812	1002	154602	rs72863353	0.0029	0.0029	0.0019	0.0039	0.0364	0.0028	0.0028	0.0353	0.0349	0.0183	0.0013	7.66e-05	0	1.873e-05	0.0033	0.0001	0.0032	0.0364	0.0068	0.0069	0.0066	0.0071	0.0420	0.0065	0.0064	0.0373	0.0355	0.0188	0	0.0020	0	0.0006	0	0.0034	0.0003	0.0033	0.0420	0.55	0.08310	T	0.53	0.13177	T	0.004	0.12183	B	0.005	0.11217	B	0.263387	0.03724	N	1.461700	1	0.08975	N	0.2	0.09183	N	2.71	0.13673	T	-0.28	0.13611	N	0.091	0.06990	-1.0021	0.29313	T	0.007	0.02282	T	10	0.002343744	0.00034	T	.	.	.	0.009	0.00846	.	.	0.0401082797425	0.02173	0.14974680713746105	0.14896	0.0366873833689	0.03882	0.297369837761	0.10010	T	0.006537	0.09982	T	-0.665473	0.00058	T	-0.700819	0.05781	T	0.000931852727494175	0.00009	T	0.562944	0.19809	T	0.01936526	0.00465	0.022301018	0.00257	0.01936526	0.00465	0.022301018	0.00257	-1.665	0.27726	T	.	.	0.076	0.05756	B	.;.;.	.;.;.	-2.180905	0.00067	0.001	0.5847849053647014	0.06002	0.00905	0.03541	N	AEFDGBI	0.034946	0.04417	N	-1.68309521886783	0.00903	0.03909684	-1.76486838012279	0.00878	0.0392649	0.999999999748264	0.74766	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.51	-9.64	0.00453	-2.084000	0.01451	-5.180000	0.01817	-0.946000	0.02057	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2921:0.1041:0.4:0.2039	2.958	0.05522	665	0.61472	GDSL lipase/esterase|Phospholipase B;.;GDSL lipase/esterase|Phospholipase B	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.008056	0.005051	0.008152	0.008772	0.000000	0.000000	0.003049	0.022727	0.07143	692.44	59	chr2	28582447	.	G	A	692.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.648;DP=241;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.74;ReadPosRankSum=-0.683;SOR=0.611	GT:AD:DP:GQ:PL	0/1:28,31:59:99:703,0,641	6	0	1	0
chr2	29071387	29071387	C	T	exonic	PCARE	.	nonsynonymous SNV	PCARE:NM_001029883:exon1:c.G2875A:p.A959T	.	0	1477	45	0	0	45	0.015005	.	.	.	190306	not_provided|Retinitis_pigmentosa|not_specified|Retinitis_pigmentosa_54	MedGen:C3661900|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MedGen:CN169374|MONDO:MONDO:0013263,MedGen:C3150691,OMIM:613428,Orphanet:791	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.032	.	0.0021	0.00199681	0.0037	0.0003	0.0017	0	0.0002	0.0033	0.0101	0.0114	0.0032082	496	154602	rs192350796	0.0022	0.0022	0.0018	0.0026	0.0149	0.0021	0.0021	0.0124	0.0114	0.0002	0.0016	0.0419	7.557e-05	1.884e-05	0.0149	0.0006	0.0049	0.0113	0.0017	0.0017	0.0019	0.0016	0.0112	0.0016	0.0015	0.0088	0.0079	0.0002	0	0.0009	0.0354	0	0	0.0034	0.0008	0.0024	0.0112	0.21	0.19639	T	0.042	0.50226	D	0.0	0.02946	B	0.0	0.01387	B	0.059117	0.22349	N	0.470567	1	0.08975	N	.	.	.	2.19	0.18724	T	-0.35	0.12847	N	0.025	0.00485	-1.0499	0.14425	T	0.027	0.11663	T	10	0.0031301677	0.00052	T	.	.	.	0.032	0.07718	.	.	0.0762999501168	0.06990	0.20868877635627958	0.20784	0.0131637018963	0.01267	.	.	.	0.00331	0.02718	T	-0.736029	0.00022	T	-0.819643	0.01459	T	0.00118835454009417	0.00012	T	0.372463	0.08834	T	0.034804296	0.03976	0.04977026	0.07674	0.034804296	0.03976	0.04977026	0.07674	-3.255	0.13164	T	.	.	0.075	0.05491	B	.	.	-0.016922	0.04166	1.003	0.91811588158027524	0.21119	0.28666	0.23616	N	AEFDBI	0.062690	0.12068	N	-1.30519563939344	0.03616	0.1617998	-1.29433697293488	0.04506	0.2127163	0.101484047320148	0.16380	0.497415	0.19182	0	0.573078	0.20572	0	0.573078	0.19857	0	0.542086	0.14980	0	.	.	5.41	-1.3	0.08777	0.679000	0.24971	-0.134000	0.11587	-1.285000	0.01264	0.192000	0.24212	0.000000	0.08366	0.017000	0.10941	0.062:0.325:0.3825:0.2304	5.796	0.17653	449	0.79428	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.007049	0.000000	0.004076	0.005848	0.000000	0.008621	0.012195	0.015152	0.07143	1172.44	99	chr2	29071387	.	C	T	1172.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.545;DP=336;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.84;ReadPosRankSum=0.942;SOR=0.657	GT:AD:DP:GQ:PL	0/1:50,49:99:99:1183,0,1225	6	0	1	0
chr2	38071251	38071251	C	T	exonic	CYP1B1	.	nonsynonymous SNV	CYP1B1:NM_000104:exon3:c.G1103A:p.R368H	Anterior segment dysgenesis 6, multiple subtypes;Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, Autosomal recessive	0	1399	110	13	0	136	0.0463531	.	.	YES	22778	Anterior_segment_dysgenesis_6|Glaucoma_3A|Glaucoma_3,_primary_infantile,_B|Congenital_ocular_coloboma|Irido-corneo-trabecular_dysgenesis|not_specified|Primary_congenital_glaucoma|Glaucoma,_early-onset,_digenic|not_provided|CYP1B1-related_disorder|Myopathy,_centronuclear,_5|Congenital_glaucoma	MONDO:MONDO:0015016,MedGen:C4310623,OMIM:617315|MONDO:MONDO:0009277,MedGen:C1856439,OMIM:231300,Orphanet:98976,Orphanet:98977|MONDO:MONDO:0010968,MedGen:C1832977,OMIM:600975,Orphanet:98976|Human_Phenotype_Ontology:HP:0000589,Human_Phenotype_Ontology:HP:0007767,Human_Phenotype_Ontology:HP:0007995,MONDO:MONDO:0001476,MedGen:C0009363,Orphanet:194|Human_Phenotype_Ontology:HP:0000659,MONDO:MONDO:0011414,MedGen:C0344559,OMIM:604229,Orphanet:708|MedGen:CN169374|Human_Phenotype_Ontology:HP:0008007,MONDO:MONDO:0000365,MedGen:C1533041|MedGen:C4016760|MedGen:C3661900|MedGen:CN239260|MONDO:MONDO:0014418,MedGen:C4014814,OMIM:615959,Orphanet:169186|MONDO:MONDO:0020366,MedGen:C0020302	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.751	.	0.0016	0.00419329	0.0062	0.0004	0.0033	0	0	0.0029	0.0138	0.0294	0.0050646	783	154602	rs79204362	0.0032	0.0032	0.0022	0.0043	0.0311	0.0032	0.0031	0.0302	0.0298	0.0005	0.0021	0.0205	5.038e-05	7.643e-05	0.0236	0.0009	0.0041	0.0311	0.0020	0.0020	0.0016	0.0025	0.0245	0.0018	0.0018	0.0209	0.0195	0.0005	0	0.0012	0.0179	0	0	0.0205	0.0011	0.0047	0.0245	.	.	.	0.01	0.65728	D	.	.	.	.	.	.	0.000000	0.84330	D	0.050909	0.999999	0.58761	A	3.06	0.86941	M	.	.	.	.	.	.	0.819	0.85132	0.251	0.86759	D	0.577	0.84738	D	9	0.009640098	0.00217	T	.	.	.	.	.	.	.	0.341696514166	0.33777	0.8175150785253305	0.81708	.	.	0.417915016413	0.27551	T	0.59259	0.86824	D	0.0961558	0.63873	D	0.388342	0.91724	D	0.0597581842735867	0.07131	T	0.933807	0.75196	D	0.90570295	0.91898	0.68082505	0.81245	0.8872861	0.90276	0.8142974	0.89175	-9.232	0.69178	D	.	.	0.200	0.42404	B	.;.	.;.	5.330663	0.89461	30	0.99942312783438658	0.99824	0.96543	0.69666	D	AEFDGBCI	0.942825	0.94789	D	0.728153233663213	0.81478	7.531585	0.629670928743175	0.77105	6.615648	1.0	0.98316	0.542737	0.22433	0	0.685571	0.66316	0	0.401104	0.06395	2	0.530356	0.10902	0	.	.	5.65	5.65	0.86881	7.798000	0.84489	7.710000	0.66754	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.952000	0.50033	0.0:1.0:0.0:0.0	17.194	0.86768	914	0.21048	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013650	0.005051	0.005435	0.017544	0.050000	0.025862	0.015528	0.026515	0.1429	4265.22	152	chr2	38071251	.	C	T	4265.22	.	AC=2;AF=0.143;AN=14;DP=398;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=28.06;SOR=0.861	GT:AD:DP:GQ:PL	1/1:0,152:152:99:4286,455,0	6	1	0	0
chr2	38798357	38798357	G	A	exonic	DHX57	.	nonsynonymous SNV	DHX57:NM_001329963:exon24:c.C3797T:p.T1266M,DHX57:NM_198963:exon24:c.C4103T:p.T1368M	.	430	1083	9	0	0	9	0.00413793	.	.	.	2815700	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.019	0.00336934458306	0.0041	0.00139776	0.0042	0.0008	0.0017	0	0.0041	0.0057	0.0044	0.0042	0.0041785	646	154602	rs61757607	0.0053	0.0054	0.0053	0.0054	0.0061	0.0052	0.0052	0.0059	0.0059	0.0008	0.0022	0.0038	0	0.0036	0.0014	0.0061	0.0037	0.0049	0.0035	0.0035	0.0034	0.0036	0.0054	0.0032	0.0031	0.0049	0.0047	0.0010	0	0.0029	0.0061	0	0.0030	0.0034	0.0054	0.0014	0.0043	.	.	.	0.153	0.32144	T	0.026	0.19406	B	0.009	0.14300	B	0.013012	0.28981	N	0.238942	1	0.08975	N	1.245	0.31408	L	.	.	.	.	.	.	0.086	0.06322	-0.9093	0.46940	T	0.004	0.01470	T	10	0.008805484	0.00199	T	0.003369	0.07542	T	.	.	.	.	0.43965937752	0.43585	0.25701745062732984	0.25615	.	.	0.319938540459	0.13412	T	0.034557	0.23370	T	-0.478024	0.00760	T	-0.455699	0.27068	T	0.00334942706796963	0.00035	T	0.751425	0.37327	T	0.01902361	0.00427	0.04860193	0.07254	0.01902361	0.00427	0.04860193	0.07254	-4.81	0.34708	T	.	.	0.082	0.08899	B	.	.	2.033044	0.25837	16.91	0.95956459599918542	0.28286	0.65038	0.32604	D	AEFDGBHI	0.106249	0.21205	N	-0.529976853697506	0.21116	1.118255	-0.466855505759159	0.23072	1.256386	0.999669285427071	0.41534	0.706548	0.73137	0	0.724815	0.89359	0	0.80507	0.99327	0	0.635259	0.50027	0	.	.	5.42	2.62	0.30337	2.208000	0.42436	3.916000	0.40440	0.671000	0.69459	0.994000	0.38300	1.000000	0.68203	0.735000	0.35267	0.2097:0.1226:0.6676:0.0	7.405	0.26160	629	0.65079	.	.	.	.	.	.	Likely benign	0	0	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	0.001359	0.002924	0.050000	0.000000	0.003049	0.000000	0.07143	888.68	62	chr2	38798357	.	G	A	888.68	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.28;DP=243;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.33;ReadPosRankSum=-0.007;SOR=0.678	GT:AD:DP:GQ:PL	0/1:25,37:62:99:899,0,491	6	0	1	0
chr2	38959849	38959849	T	C	exonic	ARHGEF33	.	nonsynonymous SNV	ARHGEF33:NM_001145451:exon16:c.T1544C:p.M515T,ARHGEF33:NM_001367623:exon16:c.T1544C:p.M515T	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.0174075369126	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.168e-07	6.84e-07	0	1.455e-06	1.27e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.27e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.129	0.34837	T	.	.	.	.	.	.	.	.	.	.	0.792663	0.34407	D	0.805	0.20218	L	0.74	0.50459	T	-1.73	0.41046	N	0.364	0.43417	-0.9053	0.47412	T	0.078	0.31224	T	9	0.18720284	0.34220	T	0.017408	0.39097	T	0.131	0.35738	0.153	0.05648	0.253726318573	0.24972	0.2944981164392192	0.29362	.	.	0.647900462151	0.59688	T	.	.	.	-0.0735459	0.40760	T	-0.34342	0.39956	T	0.43500018119812	0.30245	T	0.664234	0.27311	T	.	.	.	.	.	.	.	.	-1.802	0.02515	T	.	.	0.316	0.54175	B	.;.	.;.	2.918567	0.38741	20.8	0.96956722856351774	0.31759	0.89858	0.50600	D	AEFDBCI	0.544243	0.55925	D	-0.0454591386243692	0.39806	2.353404	0.101476710604732	0.44624	2.740566	0.999999956867643	0.74766	0.549168	0.22868	0	0.627178	0.54094	0	0.61531	0.40942	0	0.651492	0.60203	0	.	.	5.12	5.12	0.69459	4.066000	0.57236	7.707000	0.66598	0.580000	0.29708	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:0.0:0.0:1.0	14.606	0.68075	544	0.72685	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1169.53	125	chr2	38959849	.	T	C	1169.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.422;DP=309;ExcessHet=0;FS=2.306;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.36;ReadPosRankSum=0.193;SOR=0.512	GT:AD:DP:GQ:PL	0/1:73,52:125:99:1180,0,1828	6	0	1	0
chr2	42329795	42329795	A	G	exonic	EML4	.	nonsynonymous SNV	EML4:NM_001145076:exon22:c.A2360G:p.N787S,EML4:NM_019063:exon23:c.A2534G:p.N845S	.	429	1091	2	0	0	2	0.000915751	.	.	.	2424926	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.071	0.0179578907094	7.7e-05	.	7.414e-05	0	8.646e-05	0.0001	0	7.492e-05	0.0011	6.057e-05	7.12e-05	11	154602	rs370089045	8.414e-05	8.414e-05	8.031e-05	8.8e-05	0.0002	7.203e-05	6.75e-05	6.959e-05	6.454e-05	8.961e-05	0.0001	0	7.557e-05	3.744e-05	0.0002	8.363e-05	0.0001	9.275e-05	0.0001	0.0001	0.0002	0.0001	0.0003	9.739e-05	8.254e-05	0.0002	0.0001	0.0003	0	0.0001	0	0	0	0.0034	8.823e-05	0	0.0002	0.101	0.30656	T	0.071	0.43721	T	0.001	0.09854	B	0.006	0.12133	B	0.009550	0.30309	N	0.404849	0.571082	0.32294	D	0.975	0.24501	L	0.31	0.58613	T	-0.93	0.25770	N	0.123	0.22614	-0.6318	0.63494	T	0.252	0.62178	T	10	0.09848896	0.17810	T	0.017958	0.39858	T	0.071	0.20720	.	.	0.451977122513	0.44822	0.19527430151729533	0.19444	0.0412068201696	0.04422	0.427335530519	0.28845	T	0.029903	0.21320	T	-0.394722	0.02507	T	-0.549721	0.17352	T	0.0150480032257868	0.00325	T	0.864214	0.56114	D	0.03907242	0.05327	0.055696454	0.09818	0.03907242	0.05327	0.055696454	0.09818	-5.979	0.46993	T	.	.	0.057	0.02285	B	.;.;.	.;.;.	2.137682	0.27216	17.39	0.99189539560208984	0.54935	0.64894	0.32556	D	AEFBCI	0.170757	0.29769	N	-0.362437283052168	0.26818	1.466569	-0.272115663932051	0.29021	1.622633	0.998792607735065	0.37689	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.75	3.38	0.37806	2.189000	0.42253	3.664000	0.39416	0.756000	0.94297	0.840000	0.30285	1.000000	0.68203	0.996000	0.76049	0.7878:0.0:0.2122:0.0	9.334	0.37202	923	0.18507	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	1121.44	101	chr2	42329795	.	A	G	1121.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.45;DP=292;ExcessHet=0;FS=2.632;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.1;ReadPosRankSum=-0.615;SOR=0.998	GT:AD:DP:GQ:PL	0/1:56,45:101:99:1132,0,1297	6	0	1	0
chr2	43809753	43809753	G	C	exonic	DYNC2LI1	.	nonsynonymous SNV	DYNC2LI1:NM_001193464:exon13:c.G1045C:p.E349Q,DYNC2LI1:NM_016008:exon13:c.G1042C:p.E348Q	Short-rib throacic dysplasia 15 with polydactyly, Autosomal recessive	456	1060	5	1	0	7	0.00329102	.	.	.	697571	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.030	0.00649819671602	0.0023	0.000798722	0.0018	0.0001	0.0007	0	0	0.0031	0	0.0002	0.0015912	246	154602	rs41281457	0.0015	0.0015	0.0014	0.0015	0.0014	0.0014	0.0014	0.0010	0.0010	0.0002	0.0008	0.0267	0	0.0001	0.0014	0.0011	0.0034	0.0001	0.0016	0.0016	0.0017	0.0015	0.0015	0.0014	0.0014	0.0013	0.0012	0.0004	0	0.0007	0.0302	0	9.423e-05	0	0.0015	0.0024	0	0.26	0.16574	T	0.246	0.24054	T	0.018	0.20002	B	0.015	0.22546	B	0.022667	0.26589	N	0.410732	0.927695	0.27138	N	1.905	0.50856	L	2.15	0.19311	T	-0.54	0.16598	N	0.109	0.12627	-1.0612	0.11459	T	0.091	0.34847	T	10	0.0021591187	0.00031	T	0.006498	0.17129	T	0.030	0.07022	.	.	0.110078149338	0.10416	0.28648085428226705	0.28561	0.0395115337248	0.04217	0.421312689781	0.28017	T	0.031434	0.22039	T	-0.521083	0.00434	T	-0.54029	0.18268	T	0.0162886221873582	0.00400	T	0.694731	0.30434	T	0.08197862	0.18862	0.05434256	0.09330	0.107283	0.25367	0.06866476	0.14367	-3.548	0.17467	T	.	.	0.118	0.25462	B	.;.	.;.	2.059045	0.26183	17.03	0.99351661716438056	0.60615	0.86873	0.46251	D	AEFBI	0.295283	0.40544	N	-0.102872209322652	0.37268	2.165758	0.101427095412114	0.44621	2.740366	0.999967266713653	0.48965	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.683762	0.67416	0	.	.	5.11	5.11	0.69188	3.939000	0.56302	5.087000	0.47319	-0.116000	0.14526	1.000000	0.71638	1.000000	0.68203	0.966000	0.53164	0.0:0.0:1.0:0.0	15.567	0.76044	637	0.64373	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002520	0.000000	0.004076	0.000000	0.000000	0.000000	0.006098	0.000000	0.08333	227.27	34	chr2	43809753	.	G	C	227.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.041;DP=178;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=6.68;ReadPosRankSum=1.31;SOR=0.573	GT:AD:DP:GQ:PL	0/1:21,13:34:99:237,0,491	5	0	1	1
chr2	44359509	44359509	G	T	exonic	PREPL	.	nonsynonymous SNV	PREPL:NM_001042385:exon1:c.C207A:p.S69R,PREPL:NM_001042386:exon1:c.C207A:p.S69R,PREPL:NM_006036:exon1:c.C207A:p.S69R,PREPL:NM_001171603:exon2:c.C207A:p.S69R,PREPL:NM_001171606:exon2:c.C207A:p.S69R,PREPL:NM_001374275:exon2:c.C207A:p.S69R,PREPL:NM_001374276:exon2:c.C207A:p.S69R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.00168836169403	.	.	8.258e-06	0	0	0	0	0	0	6.073e-05	6.5e-06	1	154602	rs749467366	2.061e-06	2.052e-06	2.735e-06	1.38e-06	2.322e-05	5.5e-07	1.5e-07	3.86e-06	1.44e-06	0	0	0	0	0	0	9.033e-07	0	2.322e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	0.22660	T	0.615	0.56192	T	0.001	0.31978	B	0.001	0.32951	B	0.042856	0.23799	N	0.443923	1	0.81001	D	0.205	0.09354	N	.	.	.	-0.03	0.08971	N	0.31	0.44857	-1.0603	0.11681	T	0.071	0.28806	T	9	0.17533228	0.32460	T	0.001688	0.02805	T	0.047	0.12962	0.518	0.61915	0.27479166964	0.27093	0.37172189131497485	0.37086	0.00478119465073	0.00421	0.440153241158	0.30597	T	0.011515	0.10265	T	-0.239607	0.15399	T	-0.400427	0.33334	T	0.249649778008461	0.22857	T	0.691931	0.48580	T	0.101927005	0.24080	0.12570025	0.30284	0.101927005	0.24079	0.12570025	0.30284	-4.71	0.34050	T	0.354414274291193	0.45137	0.120	0.50736	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.255769	0.44502	21.9	0.97626909869642053	0.35000	0.55679	0.29925	D	AEFBI	0.178242	0.30550	N	-0.261917125878348	0.30631	1.709719	-0.0366196567024577	0.38075	2.238111	0.999986495291225	0.51787	0.653281	0.48532	0	0.627608	0.54475	0	0.658983	0.55881	0	0.669	0.65921	0	.	.	5.27	4.33	0.51083	1.853000	0.38998	7.979000	0.76067	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:0.7885:0.2115	10.201	0.42261	812	0.42537	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	577.63	26	chr2	44359509	.	G	T	577.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.497;DP=188;ExcessHet=0;FS=2.635;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=22.22;ReadPosRankSum=-0.293;SOR=0.201	GT:AD:DP:GQ:PL	0/1:5,21:26:99:588,0,132	6	0	1	0
chr2	55025628	55025628	T	C	exonic	RTN4	.	nonsynonymous SNV	RTN4:NM_001321859:exon3:c.A1853G:p.K618R,RTN4:NM_001321860:exon3:c.A1853G:p.K618R,RTN4:NM_001321861:exon3:c.A1853G:p.K618R,RTN4:NM_001321862:exon3:c.A1853G:p.K618R,RTN4:NM_001321863:exon3:c.A1853G:p.K618R,RTN4:NM_020532:exon3:c.A2471G:p.K824R,RTN4:NM_207521:exon3:c.A1853G:p.K618R,RTN4:NM_001321904:exon4:c.A1853G:p.K618R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00389074888163	.	.	3.309e-05	0	0	0	0	6.009e-05	0	0	2.59e-05	4	154602	rs201310203	6.843e-06	6.84e-06	5.447e-06	8.254e-06	7.196e-06	3.46e-06	2.52e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.196e-06	3.313e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.34800	T	0.318	0.22694	T	0.006	0.13644	B	0.003	0.08700	B	0.777077	0.09501	N	0.908693	0.999902	0.50806	D	0.905	0.23240	L	2.1	0.19990	T	-0.61	0.18042	N	0.044	0.01658	-1.0080	0.27541	T	0.046	0.19680	T	10	0.06616709	0.09034	T	0.003891	0.09148	T	0.023	0.04649	0.232	0.16005	0.263140351381	0.25927	0.05032212790685537	0.04975	0.0262991557053	0.02687	0.218892604113	0.01247	T	0.117772	0.43809	T	-0.372638	0.03462	T	-0.61668	0.11449	T	0.0208412274603847	0.00784	T	0.560444	0.19943	T	0.060711037	0.12491	0.062281866	0.12159	0.060711037	0.12490	0.062281866	0.12159	-4.807	0.34673	T	.	.	0.075	0.08609	B	.;.;.;.;.	.;.;.;.;.	1.157831	0.15464	11.87	0.98737335836103179	0.45452	0.51853	0.28993	D	AEGBCI	0.082789	0.16767	N	-0.54411905282384	0.20668	1.09125	-0.473335631001747	0.22891	1.245623	0.99993238225666	0.46732	0.660377	0.49826	0	0.518115	0.08659	0	0.696353	0.63694	0	0.322989	0.05693	1	.	.	5.45	1.78	0.23918	0.267000	0.18318	-0.138000	0.11547	0.665000	0.62972	0.692000	0.28550	0.029000	0.21193	0.984000	0.60418	0.0:0.1992:0.0:0.8008	9.252	0.36720	625	0.65529	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	643.63	75	chr2	55025628	.	T	C	643.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.024;DP=248;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.58;ReadPosRankSum=-0.696;SOR=0.704	GT:AD:DP:GQ:PL	0/1:47,28:75:99:654,0,1323	6	0	1	0
chr2	61349269	61349269	T	G	exonic	USP34	.	nonsynonymous SNV	USP34:NM_014709:exon13:c.A1524C:p.R508S	.	440	1079	3	0	0	3	0.00138825	.	.	.	719928	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.208	.	0.0079	0.00319489	0.0069	0.0023	0.0009	0.0006	0.0033	0.0100	0.0033	0.0066	0.0073285	1133	154602	rs62623573	0.0099	0.0099	0.0099	0.0098	0.0117	0.0097	0.0097	0.0115	0.0115	0.0016	0.0017	0.0009	0	0.0033	0.0019	0.0117	0.0070	0.0073	0.0066	0.0066	0.0070	0.0061	0.0104	0.0062	0.0061	0.0098	0.0095	0.0019	0.0658	0.0042	0.0014	0	0.0028	0	0.0104	0.0052	0.0093	0.106	0.29688	T	0.781	0.04316	T	0.967	0.56408	D	0.879	0.62418	P	0.000790	0.41772	D	0.299146	0.910418	0.36396	D	0	0.06538	N	3.99	0.03268	T	-0.81	0.22294	N	0.705	0.70878	-0.7702	0.56847	T	0.008	0.02679	T	10	0.0077167153	0.00175	T	.	.	.	0.208	0.49714	0.154	0.05752	0.272557281605	0.26857	0.430210628247537	0.42938	.	.	0.627248764038	0.56755	T	0.020572	0.16172	T	-0.456911	0.01027	T	-0.418066	0.31298	T	0.0269503199045537	0.01537	T	0.850615	0.53448	D	0.11781335	0.27768	0.08836432	0.20598	0.11781335	0.27768	0.08836432	0.20597	-2.813	0.08304	T	.	.	0.344	0.56178	A	.	.	3.270103	0.44761	22.0	0.99037284146221538	0.50939	0.90887	0.52449	D	AEFDBI	0.253919	0.37333	N	0.0285571167857024	0.43156	2.614189	0.117331816805362	0.45434	2.80674	0.595171275827209	0.21679	0.732398	0.92422	0	0.653731	0.59785	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	5.65	4.49	0.54177	1.012000	0.29527	1.565000	0.27381	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0731:0.0:0.9269	10.596	0.44531	190	0.92594	.	.	.	.	.	rs62623573	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.005051	0.001359	0.002924	0.000000	0.000000	0.000000	0.003788	0.08333	403.27	36	chr2	61349269	.	T	G	403.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.073;DP=203;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.2;ReadPosRankSum=-0.048;SOR=0.683	GT:AD:DP:GQ:PL	0/1:17,19:36:99:413,0,362	5	0	1	1
chr2	71427157	71427157	C	T	exonic	ZNF638	.	nonsynonymous SNV	ZNF638:NM_001014972:exon24:c.C5288T:p.A1763V,ZNF638:NM_001252612:exon24:c.C5288T:p.A1763V,ZNF638:NM_001252613:exon24:c.C5288T:p.A1763V,ZNF638:NM_014497:exon24:c.C5288T:p.A1763V	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.0118825987567	7.7e-05	0.000199681	3.3e-05	9.643e-05	0	0	0	0	0	0.0002	3.23e-05	5	154602	rs140596491	1.575e-05	1.573e-05	1.09e-05	2.065e-05	9.311e-05	1.049e-05	8.76e-06	4.594e-05	3.283e-05	0	0	0	0	0	0	1.08e-05	4.975e-05	9.311e-05	4.599e-05	4.594e-05	1.286e-05	8.063e-05	0.0004	2.109e-05	1.527e-05	7.293e-05	3.03e-05	2.408e-05	0	0	0	0	0	0	5.882e-05	0	0.0004	0.005	0.63226	D	0.016	0.60972	D	0.225	0.30426	B	0.032	0.22131	B	0.002571	0.36316	N	0.125120	0.993046	0.81001	D	0.695	0.17993	N	1.17	0.37910	T	-1.17	0.29933	N	0.258	0.29197	-1.0860	0.06227	T	0.050	0.21378	T	10	0.042135656	0.02934	T	0.011883	0.29939	T	0.048	0.13305	.	.	0.0675242888579	0.06100	0.0836992870983337	0.08303	0.0360325663681	0.03802	0.621238708496	0.55904	T	0.04773	0.27809	T	-0.263489	0.12494	T	-0.379591	0.35771	T	0.0372960266170018	0.03207	T	0.945105	0.79107	D	0.078847945	0.17980	0.09526781	0.22586	0.078847945	0.17979	0.09526781	0.22586	-3.941	0.22918	T	.	.	0.208	0.45261	B	.;.	.;.	4.321037	0.66132	24.9	0.99899257420881238	0.97124	0.84961	0.44058	D	AEFBI	0.166879	0.29351	N	-0.151051318390667	0.35190	2.018143	0.0068806220999689	0.40033	2.382844	0.657708131195867	0.22236	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.71	3.8	0.42887	1.855000	0.39018	.	.	0.599000	0.40250	0.964000	0.33853	1.000000	0.68203	0.981000	0.58702	0.1572:0.7597:0.0:0.083	8.193	0.30539	633	0.64743	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	579.63	55	chr2	71427157	.	C	T	579.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.854;DP=232;ExcessHet=0;FS=1.049;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.54;ReadPosRankSum=-0.662;SOR=0.973	GT:AD:DP:GQ:PL	0/1:31,24:55:99:590,0,742	6	0	1	0
chr2	73265335	73265335	G	A	exonic	FBXO41	.	nonsynonymous SNV	FBXO41:NM_001371389:exon5:c.C1511T:p.A504V,FBXO41:NM_001080410:exon9:c.C1511T:p.A504V	.	388	1096	36	2	0	40	0.0179211	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	.	0.0003	0.0107827	0.0078	0.0006	0.0518	0.0004	0	0.0008	0.0047	0.0162	0.0070956	1097	154602	rs188487265	0.0030	0.0030	0.0026	0.0033	0.0480	0.0029	0.0029	0.0463	0.0456	0.0004	0.0480	0.0011	0.0014	0.0002	0.0097	0.0003	0.0037	0.0163	0.0058	0.0058	0.0045	0.0071	0.0462	0.0054	0.0053	0.0434	0.0423	0.0006	0	0.0462	0.0009	0.0012	0	0.0068	0.0006	0.0085	0.0157	0.476	0.08335	T	0.442	0.13252	T	0.0	0.02946	B	0.0	0.01387	B	0.847931	0.08984	N	0.917792	1	0.08975	N	0.55	0.14455	N	.	.	.	-0.55	0.16799	N	0.072	0.04547	-1.0155	0.25175	T	0.006	0.02206	T	9	0.0017401278	0.00022	T	.	.	.	0.003	0.00094	.	.	0.138757226776	0.13463	0.18048622107473394	0.17967	0.301249995044	0.32469	0.411466300488	0.26660	T	0.006353	0.05784	T	-0.724524	0.00026	T	-0.778468	0.02500	T	0.00164849263473556	0.00017	T	0.430157	0.11673	T	0.027925882	0.02054	0.0304026	0.01492	0.027925882	0.02053	0.0304026	0.01492	-4.233	0.27226	T	.	.	0.062	0.01328	B	.;.;.	.;.;.	-0.518353	0.01809	0.142	0.72745171607099846	0.10081	0.06569	0.12583	N	AEFDBI	0.053189	0.09562	N	-1.45363776807987	0.02188	0.09635119	-1.46179851677538	0.02665	0.1229868	0.989634082244431	0.31888	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.586402	0.36253	0	.	.	5.39	-3.03	0.05100	-0.510000	0.06411	-0.252000	0.10498	-1.545000	0.00970	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5201:0.0:0.2657:0.2142	5.979	0.18627	587	0.69154	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009082	0.000000	0.006793	0.005848	0.000000	0.000000	0.021472	0.015152	0.07143	358.49	43	chr2	73265335	.	G	A	358.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.785;DP=208;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.34;ReadPosRankSum=-1.528;SOR=0.622	GT:AD:DP:GQ:PL	0/1:25,18:43:99:369,0,531	6	0	1	0
chr2	74482366	74482366	G	A	exonic	CCDC142	.	nonsynonymous SNV	CCDC142:NM_001365575:exon1:c.C472T:p.P158S,CCDC142:NM_032779:exon1:c.C472T:p.P158S	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00387396287957	.	.	2.316e-05	0	0	0	0	0	0	9.504e-05	3.84e-05	1	26028	rs781520558	1.393e-06	1.368e-06	0	2.81e-06	2.998e-05	2.3e-07	9e-08	.	.	2.998e-05	0	0	0	0	0	9.085e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.392	0.11370	T	0.438	0.13441	T	0.002	0.17573	B	0.003	0.14300	B	0.822507	0.06892	N	1.103020	1	0.08975	N	0	0.06538	N	3.23	0.06931	T	0.53	0.03140	N	0.084	0.06059	-0.9550	0.40096	T	0.013	0.04843	T	10	0.04573798	0.03679	T	0.003874	0.09086	T	0.040	0.10527	0.258	0.20002	0.288727942641	0.28479	0.03316493377936429	0.03264	0.862885287998	0.69039	0.393531054258	0.24166	T	0.001637	0.01065	T	-0.197724	0.21133	T	-0.521794	0.20112	T	0.0747295845415415	0.09299	T	0.49655	0.15423	T	0.02086202	0.00661	0.054154564	0.09262	0.02086202	0.00661	0.054154564	0.09261	-4.048	0.24519	T	.	.	0.087	0.15070	B	.;.	.;.	0.500480	0.08693	5.468	0.75722795522899711	0.11186	0.02876	0.07652	N	ALL	0.070729	0.14053	N	-1.13461456367128	0.06037	0.2768429	-1.12127349792135	0.07294	0.354272	0.999999996209061	0.74766	0.024636	0.00146	3	0.218748	0.04544	0	0.239995	0.05000	1	0.249971	0.05119	0	.	.	4.56	1.57	0.22490	0.655000	0.24618	2.555000	0.33284	-0.650000	0.04392	0.048000	0.21332	0.990000	0.31317	0.001000	0.02609	0.216:0.0:0.5922:0.1918	3.722	0.07989	517	0.74620	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	359.46	33	chr2	74482366	.	G	A	359.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2;DP=206;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.89;ReadPosRankSum=-1.881;SOR=0.486	GT:AD:DP:GQ:PL	0/1:20,13:33:99:370,0,496	6	0	1	0
chr2	74530221	74530221	T	C	exonic	HTRA2	.	nonsynonymous SNV	HTRA2:NM_001321727:exon1:c.T215C:p.L72P,HTRA2:NM_001321728:exon1:c.T215C:p.L72P,HTRA2:NM_013247:exon1:c.T215C:p.L72P,HTRA2:NM_145074:exon1:c.T215C:p.L72P	3-methylglutaconic aciduria, type VIII, Autosomal recessive	0	1490	32	0	0	32	0.0106242	.	.	.	288021	Parkinson_disease_13,_autosomal_dominant,_susceptibility_to|HTRA2-related_disorder|not_provided	MONDO:MONDO:0012466,MedGen:C1853202,OMIM:610297,Orphanet:2828|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.057	.	0.0022	0.00159744	0.0027	0.0009	0.0016	0	0.0002	0.0034	0.0044	0.0037	0.0022703	351	154602	rs150047108	0.0035	0.0035	0.0035	0.0035	0.0040	0.0034	0.0034	0.0039	0.0039	0.0004	0.0018	7.678e-05	0	0.0002	0.0038	0.0040	0.0029	0.0039	0.0021	0.0021	0.0021	0.0021	0.0052	0.0019	0.0018	0.0036	0.0031	0.0007	0	0.0022	0.0003	0.0002	0	0	0.0032	0.0043	0.0052	0.001	0.78490	D	0.127	0.35082	T	0.001	0.12183	B	0.001	0.08700	B	0.044548	0.23626	N	0.267010	0.999493	0.21100	N	0.805	0.20218	L	2.35	0.16217	T	0.55	0.24026	N	0.223	0.32037	-1.0225	0.22899	T	0.020	0.08593	T	10	0.0052509904	0.00115	T	.	.	.	0.057	0.16321	.	.	0.266385636622	0.26244	0.6620386947890653	0.66140	1.39601714628	0.85086	0.625166535378	0.56460	T	0.087708	0.38001	T	-0.575252	0.00206	T	-0.600242	0.12792	T	0.0185566138682526	0.00570	T	0.513449	0.16474	T	0.08012084	0.18341	0.06895128	0.14464	0.060067747	0.12282	0.076975636	0.17103	-6.625	0.51923	T	.	.	0.067	0.02861	B	.;.;.	.;.;.	3.209516	0.43678	21.8	0.99085721058758613	0.52075	0.07325	0.13346	N	AEFDBCI	0.193850	0.32096	N	-0.844093685387519	0.12196	0.5929972	-0.83405054399255	0.13671	0.7104868	0.999998786389603	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.621717	0.48901	0	.	.	5.0	-0.323	0.12079	0.717000	0.25523	0.738000	0.21138	0.578000	0.29377	0.125000	0.23262	0.641000	0.25915	0.119000	0.19126	0.151:0.1781:0.3127:0.3581	0.962	0.01309	243	0.90483	.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.003024	0.005051	0.002717	0.000000	0.050000	0.008621	0.003049	0.011364	0.08333	342.27	36	chr2	74530221	.	T	C	342.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.98;DP=195;ExcessHet=0;FS=1.341;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.51;ReadPosRankSum=1.04;SOR=0.412	GT:AD:DP:GQ:PL	0/1:20,16:36:99:352,0,515	5	0	1	1
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|1:142,21:163:99:0|1:94876587_C_A:454,0,5794:94876587	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|1:158,54:212:99:0|1:94876587_C_A:1792,0,6472:94876587	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|1:179,71:250:99:0|1:94876587_C_A:2422,0,7269:94876587	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|1:212,91:303:99:0|1:94876671_A_G:3183,0,8508:94876671	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|1:212,91:303:99:0|1:94876671_A_G:3183,0,8508:94876671	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	0/1:225,69:294:99:1408,0,5458	0	0	7	0
chr2	94876737	94876737	C	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C730A:p.P244T,TEKT4:NM_144705:exon6:c.C1276A:p.P426T	.	420	623	478	1	0	480	0.2781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.305	0.00856323149497	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.49	0.72568	M	4.16	0.02791	T	-6.15	0.90178	D	0.449	0.48689	-1.1193	0.02376	T	0.028	0.11926	T	10	0.86077964	0.85296	D	0.008563	0.22631	T	0.305	0.62620	0.82	0.93328	0.439763647824	0.43599	0.7402352279972402	0.73968	0.238822044954	0.26437	0.431803226471	0.29455	T	0.211342	0.57208	T	-0.00288391	0.51258	T	-0.241919	0.50610	T	0.997360169887543	0.91383	D	0.868613	0.57103	D	0.468639	0.65206	0.43668678	0.67113	0.468639	0.65207	0.43668678	0.67113	-9.492	0.70809	D	.	.	0.247	0.48188	B	.	.	3.384766	0.46838	22.4	0.99756532367682871	0.84694	0.76429	0.37483	D	AEFDGBI	0.183688	0.31101	N	0.284556175349996	0.55366	3.700636	0.149238450167121	0.47101	2.945506	0.878548229655452	0.25568	0.646311	0.45356	0	0.844039	0.99811	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	2.43	0.28797	3.367000	0.52075	5.126000	0.47622	0.302000	0.18967	1.000000	0.71638	1.000000	0.68203	0.409000	0.26983	0.0:1.0:0.0:0.0	10.548	0.44261	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3571	4870.11	291	chr2	94876737	.	C	A	4870.11	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-2.517;DP=1831;ExcessHet=4.7409;FS=2.809;MLEAC=5;MLEAF=0.357;MQ=56.76;MQRankSum=-15.54;QD=2.75;ReadPosRankSum=-2.853;SOR=0.993	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:266,25:291:99:0|1:94876737_C_A:228,0,11037:94876737	2	0	5	0
chr2	94876740	94876740	A	C	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.A733C:p.T245P,TEKT4:NM_144705:exon6:c.A1279C:p.T427P	.	420	617	484	1	0	486	0.282558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.00171498663639	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.114	0.36765	T	0.125	0.26866	B	0.085	0.29395	B	0.131368	0.18625	N	0.557409	0.999999	0.08975	N	1.955	0.52871	M	4.2	0.02689	T	-3.07	0.63207	D	0.235	0.26475	-0.9960	0.31028	T	0.012	0.04558	T	10	0.1880475	0.34342	T	0.001715	0.02856	T	0.095	0.27398	0.692	0.82938	0.242825505644	0.23883	0.760572030042999	0.76005	0.0377657102004	0.04010	0.42577329278	0.28630	T	0.133664	0.46448	T	-0.179838	0.23760	T	-0.496102	0.22753	T	0.267470479011536	0.23639	T	0.608739	0.23025	T	0.12824208	0.29987	0.113306135	0.27344	0.12824208	0.29987	0.113306135	0.27344	-6.544	0.50625	T	.	.	0.070	0.03552	B	.	.	1.347397	0.17547	13.23	0.9830799806719418	0.40116	0.00645	0.02815	N	AEFDGBI	0.062337	0.11976	N	-0.575656789009934	0.19685	1.032239	-0.641925779952209	0.18420	0.9839579	4.74237286387209E-4	0.07095	0.646311	0.45356	0	0.844039	0.99811	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	1.2	0.20181	-0.628000	0.05611	0.633000	0.20247	0.373000	0.20310	0.000000	0.06391	0.002000	0.18203	0.392000	0.26603	0.5413:0.283:0.1757:0.0	2.624	0.04627	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3571	4868.11	289	chr2	94876740	.	A	C	4868.11	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-1.23;DP=1808;ExcessHet=4.7409;FS=2.783;MLEAC=5;MLEAF=0.357;MQ=56.77;MQRankSum=-15.4;QD=2.79;ReadPosRankSum=-3.819;SOR=0.965	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:264,25:289:99:0|1:94876737_C_A:234,0,10973:94876737	2	0	5	0
chr2	95150133	95150133	C	T	exonic	ZNF514	.	nonsynonymous SNV	ZNF514:NM_001318005:exon5:c.G571A:p.G191S,ZNF514:NM_032788:exon5:c.G352A:p.G118S	.	429	1087	6	0	0	6	0.00275229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.00223007863182	0.0022	0.00119808	0.0029	0.0007	0.0021	0	0.0056	0.0037	0.0044	0.0019	0.0028137	435	154602	rs151077080	0.0031	0.0031	0.0031	0.0031	0.0035	0.0030	0.0030	0.0034	0.0034	0.0004	0.0011	0.0011	0	0.0046	0.0017	0.0035	0.0027	0.0020	0.0023	0.0023	0.0023	0.0024	0.0034	0.0021	0.0020	0.0031	0.0029	0.0006	0	0.0008	0.0023	0	0.0051	0	0.0034	0.0009	0.0029	0.208	0.19782	T	0.451	0.12920	T	0.034	0.20480	B	0.01	0.14941	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	3.57	0.04645	T	1.54	0.00702	N	0.048	0.01999	-0.9680	0.37612	T	0.014	0.05465	T	9	0.006148815	0.00138	T	0.00223	0.04233	T	0.012	0.01476	.	.	0.141422826196	0.13715	0.02770498026431738	0.02720	0.0396205225071	0.04231	0.246488302946	0.03407	T	0.013314	0.11540	T	-0.701883	0.00036	T	-0.780029	0.02452	T	0.000867880939040333	0.00008	T	0.339066	0.07293	T	0.018181358	0.00339	0.03133039	0.01706	0.018181358	0.00339	0.03133039	0.01705	-5.765	0.44268	T	.	.	0.084	0.09481	B	.;.	.;.	0.555394	0.09238	6.022	0.63366756943036573	0.07205	0.00097	0.00633	N	AEFBCI	0.043966	0.07015	N	-1.2406463053428	0.04424	0.1996404	-1.3349206712708	0.03986	0.1871118	0.0027188511871545	0.09654	0.732398	0.92422	0	0.659464	0.62310	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	3.18	-0.612	0.11016	-0.682000	0.05286	-0.860000	0.07144	-1.756000	0.00682	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.5769:0.0:0.4231	7.430	0.26292	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1169.44	90	chr2	95150133	.	C	T	1169.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.65;DP=271;ExcessHet=0;FS=1.701;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.99;ReadPosRankSum=0.88;SOR=0.894	GT:AD:DP:GQ:PL	0/1:46,44:90:99:1180,0,989	6	0	1	0
chr2	95855390	95855390	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5969G:p.N1990S	.	445	446	628	3	0	634	0.415465	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	.	.	.	0.4725	0.4791	0.4803	0.4672	0.4880	0.4733	0.4644	0.4563	0.0898263	2338	26028	rs5005871	6.166e-06	8.414e-05	8.18e-06	4.132e-06	1.162e-05	2.9e-06	2.1e-06	.	.	0	0	0	0	0.0002	0	0	0	1.162e-05	8.21e-05	0.0014	8.013e-05	8.417e-05	0.0001	4.669e-05	3.648e-05	4.891e-05	3.155e-05	0.0001	0	0.0001	0	0	0.0003	0	3.041e-05	0	0	0.015	0.52492	D	0.034	0.52727	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.56	0.13673	T	-1.08	0.28084	N	0.033	0.00882	-0.9453	0.41764	T	0.020	0.08266	T	7	0.002589792	0.00039	T	.	.	.	0.055	0.15663	.	.	.	.	0.012446412429317067	0.01203	.	.	.	.	.	0.01031	0.09320	T	-0.355653	0.04382	T	-0.748648	0.03539	T	0.0108537478151246	0.00155	T	0.411359	0.10665	T	0.03944852	0.05450	0.041137557	0.04607	0.03944852	0.05449	0.041137557	0.04607	-4.418	0.29800	T	.	.	0.294	0.52491	B	.	.	0.798647	0.11694	8.273	0.5612225942636786	0.05485	0.02449	0.06892	N	AEFI	0.055298	0.10127	N	-1.21497369849486	0.04782	0.2165626	-1.43546346583335	0.02904	0.1344849	0.00116623651718095	0.08293	0.656854	0.48797	0	0.653731	0.59785	0	0.565031	0.19037	0	0.699908	0.69081	0	.	.	2.64	-5.28	0.02543	0.547000	0.23007	-2.563000	0.03605	-0.638000	0.04459	0.451000	0.26573	0.000000	0.08366	0.008000	0.08271	0.3266:0.1273:0.3289:0.2173	0.771	0.00959	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4286	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	0/1:92,49:141:99:1168,0,2291	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	0/1:141,22:163:99:157,0,4030	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	0/1:117,94:211:99:2091,0,2894	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	0/1:120,68:188:99:1797,0,3043	1	0	6	0
chr2	95855586	95855586	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5773G:p.M1925V	.	447	884	189	2	0	193	0.0984192	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.000861707961223	.	.	0.0008	0.0001	0.0009	0.0002	0.0002	0.0014	0	0.0001	3.84e-05	1	26028	rs201192250	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.24758	T	0.137	0.33894	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.59	0.13317	T	-2.2	0.49519	N	0.124	0.11626	-0.9610	0.38993	T	0.019	0.07800	T	7	0.011997491	0.00260	T	8.62E-4	0.00755	T	0.035	0.08770	.	.	0.0806252709748	0.07271	0.015437605054057783	0.01499	.	.	.	.	.	0.004928	0.04354	T	-0.342361	0.05226	T	-0.729554	0.04347	T	0.0291781713714631	0.01865	T	0.515548	0.16619	T	0.11939599	0.28113	0.13833767	0.33041	0.11939599	0.28113	0.13833767	0.33040	-3.711	0.19481	T	.	.	0.227	0.45954	B	.	.	0.618436	0.09867	6.630	0.39056500088029883	0.02672	0.17497	0.19862	N	AEFI	0.042474	0.06596	N	-0.697976344310311	0.16079	0.8160669	-0.828039099870389	0.13816	0.7187932	1.99158050687805E-5	0.02871	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	-2.48	0.06052	0.550000	0.23052	-0.005000	0.13145	0.312000	0.19173	0.994000	0.38300	0.000000	0.08366	0.117000	0.19042	0.3728:0.0:0.19:0.4372	3.442	0.07037	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3571	3141.13	173	chr2	95855586	.	T	C	3141.13	.	AC=5;AF=0.357;AN=14;BaseQRankSum=1.84;DP=1410;ExcessHet=4.7409;FS=16.271;MLEAC=5;MLEAF=0.357;MQ=46.63;MQRankSum=-6.422;QD=2.72;ReadPosRankSum=-1.556;SOR=1.956	GT:AD:DP:GQ:PL	0/1:152,21:173:85:85,0,5831	2	0	5	0
chr2	95855588	95855588	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5771G:p.Q1924R	.	449	591	480	2	0	484	0.290516	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	.	.	0.0306	0.0658	0.0188	0.0337	0.0028	0.0359	0.0324	0.0111	0.0379591	988	26028	rs5005867	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	0.22833	T	0.311	0.19660	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.4	0.15608	T	-2.4	0.52776	N	0.054	0.02559	-0.9776	0.35548	T	0.023	0.09968	T	7	0.004524857	0.00093	T	.	.	.	0.035	0.08770	.	.	.	.	0.014319341971499302	0.01388	.	.	.	.	.	0.034191	0.23222	T	-0.342862	0.05192	T	-0.730274	0.04316	T	0.0218009842485075	0.00887	T	0.374863	0.08927	T	0.052712794	0.09870	0.11261669	0.27173	0.052712794	0.09870	0.11261669	0.27172	-5.986	0.46163	T	.	.	0.14	0.30686	B	.	.	1.453026	0.18743	13.90	0.88078949201552847	0.17700	0.32438	0.24585	N	AEFI	0.045481	0.07443	N	-0.542064366665841	0.20732	1.095167	-0.636773118221108	0.18551	0.9915041	9.62839158373236E-6	0.01202	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	0.82	0.17932	2.106000	0.41459	0.119000	0.14890	-0.667000	0.04321	1.000000	0.71638	0.000000	0.08366	0.084000	0.17470	0.0:0.1714:0.2923:0.5363	2.541	0.04438	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4286	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	0/1:119,48:167:99:1191,0,3152	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	0/1:54,8:62:99:130,0,2218	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|1:64,22:86:99:0|1:95859969_A_AT:723,0,2601:95859969	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|1:65,22:87:99:0|1:95859969_A_AT:720,0,2636:95859969	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|1:65,21:86:99:0|1:95859969_A_AT:686,0,2639:95859969	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	0/1:63,17:80:99:525,0,1603	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|1:60,17:77:99:0|1:95860002_T_A:533,0,2407:95860002	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|1:61,14:75:99:0|1:95860002_T_A:404,0,2438:95860002	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|1:58,11:69:99:0|1:95860020_G_A:287,0,2402:95860020	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|1:58,11:69:99:0|1:95860020_G_A:287,0,2402:95860020	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	0/1:42,6:48:99:126,0,1165	0	0	6	1
chr2	95891667	95891667	C	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon67:c.G3950C:p.R1317T	.	.	.	.	.	.	.	.	0	0.096	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.00258919318193	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1243857325	1.424e-06	0.0001	2.816e-06	0	2.71e-05	2.4e-07	9e-08	.	.	0	0	0	2.71e-05	0	0	9.245e-07	0	0	0	0.0014	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.509	0.07521	T	0.578	0.08565	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.08	0.77078	T	0.12	0.05604	N	0.068	0.08227	-0.9759	0.35926	T	0.147	0.47255	T	5	0.121881336	0.23111	T	0.002589	0.05235	T	0.084	0.24469	0.235	0.16457	0.393927044628	0.39002	0.0011482701666540294	0.00105	.	.	.	.	.	3.93E-4	0.00124	T	-0.222048	0.17715	T	-0.556733	0.16685	T	0.0224473349077403	0.00959	T	0.29847	0.08399	T	0.06482349	0.13793	0.07730457	0.17207	0.06482349	0.13792	0.07730457	0.17207	-0.2	0.05226	T	.	.	0.083	0.09045	B	.;.	.;.	-1.006024	0.00763	0.024	0.091701984728260702	0.00087	0.00008	0.00134	N	AEFBI	0.017924	0.00505	N	-0.606577077572815	0.18744	0.9757046	-1.03367257472638	0.09050	0.4481512	9.37543306615869E-6	0.01202	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.550183	0.17644	0	.	.	0.569	-0.448	0.11620	-0.076000	0.11374	-4.777000	0.01991	-2.671000	0.00217	0.154000	0.23713	0.000000	0.08366	0.001000	0.02609	.	.	.	250	0.90192	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	39.8	34	chr2	95891667	.	C	G	39.8	.	AC=2;AF=0.167;AN=12;BaseQRankSum=4.68;DP=289;ExcessHet=0.3476;FS=19.704;MLEAC=2;MLEAF=0.167;MQ=58.47;MQRankSum=-5.677;QD=0.34;ReadPosRankSum=-0.972;SOR=4.11	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:31,3:34:33:0|1:95891667_C_G:33,0,1272:95891667	4	0	2	1
chr2	95891674	95891674	T	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon67:c.A3943T:p.T1315S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.00291427588903	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1260919298	2.841e-06	0.0002	1.405e-06	4.309e-06	.	6.7e-07	4.5e-07	.	.	0	0	0	0	8.162e-05	0	0	0	0	6.687e-06	0.0024	0	1.371e-05	1.486e-05	0	0	.	.	0	0	0	0	0	0	0	1.486e-05	0	0	0.492	0.07944	T	0.292	0.20877	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.93	0.75215	T	-0.29	0.11728	N	0.043	0.02861	-1.0260	0.21756	T	0.121	0.42208	T	5	0.04610786	0.03760	T	0.002914	0.06162	T	0.098	0.28162	0.139	0.04277	0.18995819373	0.18626	3.2899001332843344E-4	0.00029	.	.	.	.	.	0.001442	0.00900	T	-0.278035	0.10877	T	-0.637155	0.09879	T	0.0239688079694826	0.01142	T	0.163384	0.02201	T	0.05901639	0.11943	0.0651601	0.13168	0.05901639	0.11943	0.0651601	0.13167	-2.145	0.24445	T	.	.	0.143	0.31355	B	.;.	.;.	-1.129647	0.00606	0.016	0.031514088493064071	0.00000	0.00007	0.00120	N	AEFBI	0.015590	0.00305	N	-1.46910891231834	0.02071	0.09107147	-1.69214697447218	0.01172	0.05275655	6.86907755470711E-5	0.04366	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.550183	0.17644	0	.	.	0.569	-1.14	0.09241	-0.118000	0.10665	-0.182000	0.11122	-0.854000	0.02687	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	250	0.90192	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	61.82	36	chr2	95891674	.	T	A	61.82	.	AC=2;AF=0.167;AN=12;BaseQRankSum=3.15;DP=298;ExcessHet=0.3476;FS=13.305;MLEAC=2;MLEAF=0.167;MQ=57.92;MQRankSum=-5.851;QD=0.52;ReadPosRankSum=-0.573;SOR=2.772	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:33,3:36:27:0|1:95891667_C_G:27,0,1338:95891667	4	0	2	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|1:70,23:93:99:0|1:95927222_G_GAT:755,0,2870:95927222	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|1:82,29:111:99:0|1:95927222_G_GAT:971,0,3356:95927222	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|1:82,35:117:99:0|1:95927222_G_GAT:1223,0,3338:95927222	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|1:95,55:150:99:0|1:95927222_G_GAT:2023,0,3823:95927222	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|1:109,73:182:99:0|1:95927222_G_GAT:2717,0,4357:95927222	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|1:110,75:185:99:0|1:95927222_G_GAT:2757,0,4325:95927222	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|1:74,35:109:99:0|1:95929092_T_C:1123,0,2982:95929092	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|1:88,34:122:99:0|1:95929092_T_C:1154,0,3593:95929092	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|1:92,41:133:99:0|1:95929092_T_C:1445,0,3740:95929092	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|1:91,45:136:99:0|1:95929092_T_C:1616,0,3686:95929092	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|1:88,48:136:99:0|1:95929092_T_C:1724,0,3541:95929092	0	0	7	0
chr2	96651892	96651892	G	A	exonic	FER1L5	.	nonsynonymous SNV	FER1L5:NM_001293083:exon7:c.G505A:p.V169I	.	428	1073	21	0	0	21	0.00969082	0.9833	0.766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	.	.	0.00139776	0.0016	0	0	0	0	0.0003	0	0.0042	0.0003558	55	154602	rs551147801	0.0006	0.0006	0.0004	0.0008	0.0051	0.0006	0.0006	0.0047	0.0046	3.165e-05	0.0008	0.0010	0	0.0001	0.0040	0.0003	0.0010	0.0051	0.0005	0.0005	0.0004	0.0006	0.0041	0.0004	0.0004	0.0027	0.0023	2.407e-05	0	0.0012	0.0017	0	0	0.0034	0.0003	0.0014	0.0041	.	.	.	1.0	0.01155	T	0.905	0.49920	P	0.805	0.58399	P	0.001259	0.39669	N	0.000000	.	.	.	1.315	0.32790	L	.	.	.	.	.	.	0.208	0.23125	-0.6983	0.60519	T	0.252	0.62154	T	7	0.008345634	0.00189	T	.	.	.	.	.	0.42	0.46200	0.0762999501168	0.06990	0.1784777294692949	0.17766	.	.	0.360017836094	0.19389	T	0.023363	0.17850	T	-0.2825	0.10405	T	-0.178576	0.56655	T	0.232966984635278	0.22092	T	0.682032	0.29555	T	0.08571195	0.19893	0.26364842	0.52174	0.08571195	0.19892	0.26364842	0.52173	-3.351	0.14404	T	.	.	0.129	0.32922	B	.;.;.	.;.;.	3.357735	0.46337	22.3	0.8940959130885785	0.18772	0.85141	0.44249	D	AEFBI	.	.	.	0.514035707327495	0.67921	5.14641	0.55623933869242	0.71832	5.715402	0.760659097695506	0.23504	0.162113	0.03585	0	0.060609	0.00678	0	0.175069	0.04249	0	0.075334	0.01956	0	0.976725	0.80079	5.69	5.69	0.88346	2.895000	0.48347	9.871000	0.82128	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.864000	0.41028	0.0:0.0:1.0:0.0	16.729	0.85290	202	0.92131	C2 domain|C2 domain;C2 domain|C2 domain|Ferlin, second C2 domain;C2 domain|C2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003641	0.000000	0.000000	0.004310	0.000000	0.000000	0.012048	0.000000	0.07143	1364.46	109	chr2	96651892	.	G	A	1364.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.41;DP=286;ExcessHet=0;FS=1.534;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.52;ReadPosRankSum=0.067;SOR=0.797	GT:AD:DP:GQ:PL	0/1:49,60:109:99:1375,0,1145	6	0	1	0
chr2	96691324	96691324	G	C	exonic	FER1L5	.	nonsynonymous SNV	FER1L5:NM_001293083:exon28:c.G2878C:p.E960Q	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1259640966	7.153e-07	6.84e-07	1.411e-06	0	9.271e-07	0	0	.	.	0	0	0	0	0	0	9.271e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	0.39954	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.356	0.39760	-0.6156	0.64172	T	0.270	0.64162	T	7	0.22345787	0.39125	T	.	.	.	.	.	0.223	0.14665	0.16115917748	0.15686	0.6087044009719816	0.60802	.	.	0.370053350925	0.20840	T	.	.	.	-0.042991	0.45502	T	-0.29953	0.44774	T	0.491505324840546	0.32319	T	0.80282	0.45805	T	0.17648536	0.38564	0.3080051	0.56821	0.17648536	0.38563	0.3080051	0.56820	-4.361	0.29023	T	.	.	0.126	0.32922	B	.;.;.;.	.;.;.;.	2.284317	0.29215	18.05	0.68570335783956726	0.08699	0.87765	0.47417	D	AEFDBI	.	.	.	0.317788806007781	0.57060	3.872192	0.25603670194261	0.52993	3.47064	0.992810619570275	0.32978	0.080754	0.02126	0	0.07657	0.01911	0	0.072005	0.02045	0	0.062806	0.01542	0	0.944902	0.60838	4.43	4.43	0.52967	2.426000	0.44388	9.728000	0.81390	0.672000	0.70159	0.471000	0.26730	1.000000	0.68203	0.347000	0.25591	0.0:0.0:1.0:0.0	14.345	0.66218	189	0.92630	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	435.44	43	chr2	96691324	.	G	C	435.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.84;DP=217;ExcessHet=0;FS=1.194;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.13;ReadPosRankSum=1.05;SOR=0.857	GT:AD:DP:GQ:PL	0/1:25,18:43:99:446,0,597	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|1:47,6:53:99:0|1:97185336_GC_G:111,0,1955:97185336	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|1:48,6:54:99:0|1:97185336_GC_G:107,0,1997:97185336	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|1:49,6:55:99:0|1:97185336_GC_G:104,0,2039:97185336	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|1:51,6:57:98:0|1:97185336_GC_G:98,0,2123:97185336	1	0	6	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|1:51,50:101:99:0|1:97513219_T_C:1946,0,1991:97513219	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|1:54,55:109:99:0|1:97513219_T_C:2147,0,2061:97513219	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|1:63,57:120:99:0|1:97513244_G_T:2204,0,2469:97513244	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|1:68,62:130:99:0|1:97513244_G_T:2378,0,2648:97513244	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|1:67,62:129:99:0|1:97513244_G_T:2381,0,2611:97513244	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|1:71,64:135:99:0|1:97513268_C_T:2474,0,2789:97513268	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|1:72,65:137:99:0|1:97513268_C_T:2492,0,2828:97513268	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|1:72,65:137:99:0|1:97513268_C_T:2492,0,2828:97513268	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|1:75,67:142:99:0|1:97513268_C_T:2543,0,2887:97513268	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	0/1:57,28:85:99:550,0,1261	0	0	7	0
chr2	99582809	99582809	C	T	exonic	AFF3	.	nonsynonymous SNV	AFF3:NM_001025108:exon16:c.G2857A:p.G953R,AFF3:NM_002285:exon16:c.G2782A:p.G928R	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.0444721103777	7.7e-05	.	2.471e-05	0	0	0	0	1.499e-05	0	0.0001	1.94e-05	3	154602	rs149407036	3.42e-05	3.42e-05	3.131e-05	3.713e-05	4.472e-05	2.631e-05	2.375e-05	2.999e-05	2.671e-05	0	4.472e-05	0	0	0	0	3.957e-05	3.312e-05	2.319e-05	1.315e-05	1.314e-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	0.165	0.24564	T	0.129	0.35840	T	0.827	0.56202	P	0.274	0.54472	B	0.081885	0.20840	N	0.488031	0.979796	0.25157	N	0.915	0.23335	L	-0.0	0.62608	T	-2.21	0.49846	N	0.284	0.38232	-0.7690	0.56912	T	0.273	0.64515	T	10	0.18825462	0.34372	T	0.044472	0.61507	D	0.151	0.39764	0.497	0.58678	0.110392049598	0.10638	0.45596808127598437	0.45514	.	.	0.386647999287	0.23196	T	0.061617	0.31702	T	-0.212658	0.19007	T	-0.361717	0.37853	T	0.12622635613532	0.15028	T	0.826217	0.48957	T	0.2070389	0.42898	0.23042654	0.48144	0.2070389	0.42898	0.23042654	0.48143	-3.204	0.12530	T	.	.	0.151	0.33435	B	.;.;.	.;.;.	2.890569	0.38284	20.7	0.99870740765703458	0.94815	0.39575	0.26243	N	AEFDBI	0.167733	0.29443	N	-0.0616002597651824	0.39086	2.299376	-0.109250364584057	0.35017	2.020883	0.351654014533579	0.19689	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.93	5.06	0.67838	1.301000	0.33052	1.131000	0.24326	0.596000	0.33519	0.037000	0.20830	0.005000	0.19230	0.869000	0.41347	0.0:0.9234:0.0:0.0766	12.445	0.54985	300	0.87974	.;.;.	.	.	.	.	.	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	465.63	25	chr2	99582809	.	C	T	465.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.35;DP=162;ExcessHet=0;FS=5.409;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=18.63;ReadPosRankSum=-0.027;SOR=2.368	GT:AD:DP:GQ:PL	0/1:11,14:25:99:476,0,298	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	0/1:67,49:116:99:.:.:1860,0,2641:.	0	3	4	0
chr2	112520310	112520310	A	G	exonic	TTL	.	nonsynonymous SNV	TTL:NM_001371712:exon6:c.A904G:p.I302V,TTL:NM_153712:exon6:c.A904G:p.I302V	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	0.0152671553945	.	0.000199681	1.647e-05	0	0.0002	0	0	0	0	0	1.94e-05	3	154602	rs527541560	1.368e-05	1.368e-05	1.633e-05	1.1e-05	0.0002	8.94e-06	7.26e-06	2.194e-05	1.43e-05	2.987e-05	6.708e-05	0	0	0	0.0002	8.093e-06	1.656e-05	5.797e-05	1.97e-05	1.969e-05	0	4.029e-05	0.0002	5.24e-06	2.45e-06	2.26e-05	9.07e-06	0	0	0.0001	0	0	0	0	0	0	0.0002	0.028	0.46129	D	0.323	0.18959	T	0.62	0.39915	P	0.329	0.42046	B	0.000000	0.84330	D	0.000000	0.999987	0.54805	D	1.34	0.33385	L	3.14	0.07920	T	-0.69	0.19720	N	0.459	0.49602	-1.0926	0.05112	T	0.026	0.11087	T	10	0.16210642	0.30389	T	0.015267	0.35904	T	0.184	0.45763	0.666	0.80401	0.171220215726	0.16700	0.4550718898951812	0.45425	1.58366561958	0.88430	0.533345878124	0.43506	T	0.112211	0.42830	T	-0.315127	0.07304	T	-0.493463	0.23028	T	0.244346889066969	0.22618	T	0.905809	0.66782	D	0.14346841	0.32972	0.14651662	0.34709	0.14346841	0.32971	0.14651662	0.34708	-3.286	0.13558	T	.	.	0.136	0.29642	B	.	.	3.393303	0.46987	22.4	0.99824857869931716	0.90764	0.96707	0.70511	D	AEFDBHCI	0.831303	0.74987	D	0.39374653544759	0.61082	4.304733	0.510257874887616	0.68679	5.253427	0.999999999993501	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.58	5.58	0.84361	8.599000	0.90640	11.046000	0.85237	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.034	0.71390	753	0.51500	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1194.44	107	chr2	112520310	.	A	G	1194.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.32;DP=316;ExcessHet=0;FS=3.556;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=-0.125;SOR=1.061	GT:AD:DP:GQ:PL	0/1:52,55:107:99:1205,0,1094	6	0	1	0
chr2	113028078	113028078	G	T	exonic	IL36B	.	nonsynonymous SNV	IL36B:NM_173178:exon5:c.C299A:p.A100E	.	422	1086	13	1	0	15	0.00685871	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00347087292171	0.0003	0.000998403	0.0010	0	0.0004	0	0	0.0006	0.0033	0.0047	0.0008732	135	154602	rs146284777	0.0006	0.0006	0.0004	0.0007	0.0041	0.0006	0.0005	0.0038	0.0036	0	0.0004	0.0001	7.557e-05	5.616e-05	0.0040	0.0004	0.0008	0.0041	0.0004	0.0004	0.0004	0.0004	0.0029	0.0003	0.0003	0.0018	0.0014	4.814e-05	0	0.0002	0	0	9.416e-05	0.0034	0.0006	0.0009	0.0029	0.018	0.50676	D	1.0	0.01155	T	0.317	0.32920	B	0.124	0.32546	B	.	.	.	.	1	0.08975	N	.	.	.	2.36	0.16089	T	-1.52	0.36980	N	0.131	0.12627	-0.9836	0.34164	T	0.014	0.05705	T	8	0.004972905	0.00107	T	0.003471	0.07847	T	0.025	0.05312	.	.	0.0482279557977	0.04254	.	.	.	.	.	.	.	.	.	.	-0.646904	0.00076	T	-0.702154	0.05708	T	0.0249033464887801	0.01260	T	0.364364	0.08448	T	.	.	.	.	.	.	.	.	-2.224	0.04158	T	.	.	0.422	0.60794	A	.	.	0.544096	0.09125	5.910	0.84033803061393109	0.15058	0.03383	0.08488	N	AEFBI	0.036332	0.04825	N	-0.928002061463337	0.10191	0.4858331	-0.993699196664672	0.09925	0.4967548	0.306290093222256	0.19241	0.446893	0.09132	0	0.563428	0.19063	0	0.491513	0.07944	0	0.530356	0.10902	0	.	.	4.95	0.801	0.17822	0.173000	0.16538	-0.057000	0.12472	0.571000	0.28931	0.000000	0.06391	0.000000	0.08366	0.118000	0.19084	0.0954:0.3444:0.3972:0.163	3.293	0.06545	461	0.78683	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.07143	501.63	51	chr2	113028078	.	G	T	501.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.326;DP=228;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.84;ReadPosRankSum=1.2;SOR=0.807	GT:AD:DP:GQ:PL	0/1:28,23:51:99:512,0,671	6	0	1	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	0/1:41,13:54:99:236,0,1109	4	0	2	1
chr2	115753250	115753250	A	G	exonic	DPP10	.	nonsynonymous SNV	DPP10:NM_001321913:exon9:c.A265G:p.I89V,DPP10:NM_001321909:exon10:c.A910G:p.I304V,DPP10:NM_001004360:exon11:c.A1006G:p.I336V,DPP10:NM_001178034:exon11:c.A1039G:p.I347V,DPP10:NM_001178037:exon11:c.A1015G:p.I339V,DPP10:NM_001321908:exon11:c.A937G:p.I313V,DPP10:NM_001321911:exon11:c.A877G:p.I293V,DPP10:NM_001321914:exon11:c.A265G:p.I89V,DPP10:NM_001178036:exon12:c.A877G:p.I293V,DPP10:NM_001321905:exon12:c.A1078G:p.I360V,DPP10:NM_001321906:exon12:c.A1006G:p.I336V,DPP10:NM_001321910:exon12:c.A877G:p.I293V,DPP10:NM_001321912:exon12:c.A877G:p.I293V	.	436	1084	2	0	0	2	0.000921659	.	.	.	2372041	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.051	0.00546687323721	7.7e-05	.	0.0001	0	0.0002	0	0	0.0001	0	0.0005	0.0001164	18	154602	rs377189934	7.673e-05	7.73e-05	4.635e-05	0.0001	0.0006	6.5e-05	6.079e-05	0.0004	0.0004	0	8.957e-05	3.835e-05	0	0	0.0005	4.232e-05	0.0001	0.0006	7.882e-05	7.874e-05	6.427e-05	9.403e-05	0.0001	4.495e-05	3.511e-05	5.844e-05	4.241e-05	2.406e-05	0	0	0	0	0	0.0034	0.0001	0.0009	0	0.936	0.02981	T	0.683	0.06052	T	0.009	0.15093	B	0.012	0.16012	B	0.000003	0.62929	D	0.058645	0.990692	0.41215	D	0.37	0.12060	N	1.61	0.28391	T	-0.04	0.07590	N	0.076	0.06322	-1.0840	0.06591	T	0.043	0.18285	T	10	0.029397428	0.01067	T	0.005467	0.14075	T	0.051	0.14325	.	.	0.082315109003	0.07666	0.22200918125884497	0.22115	0.135576378678	0.15282	0.576366662979	0.49573	T	0.01168	0.10383	T	-0.464774	0.00917	T	-0.547908	0.17526	T	0.0193429418792422	0.00639	T	0.845015	0.53448	T	0.18493593	0.39832	0.13168548	0.31615	0.18493593	0.39832	0.13168548	0.31614	-2.896	0.12358	T	.	.	0.064	0.05623	B	.;.;.;.	.;.;.;.	1.815043	0.23067	15.87	0.77343454685672841	0.11836	0.87005	0.46418	D	AEFI	0.310556	0.41654	N	-0.451686426096407	0.23683	1.273507	-0.25888092329145	0.29466	1.651101	7.41907125105796E-5	0.04552	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.1	3.95	0.44952	2.244000	0.42775	6.700000	0.56368	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.9215:0.0:0.0785:0.0	10.085	0.41585	944	0.12746	Dipeptidylpeptidase IV, N-terminal domain;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.000000	0.08333	448.27	33	chr2	115753250	.	A	G	448.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.223;DP=198;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.58;ReadPosRankSum=-2.061;SOR=0.512	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:12,21:33:99:1|0:115753241_G_C:458,0,430:115753241	5	0	1	1
chr2	127307620	127307620	C	T	exonic	MAP3K2	.	nonsynonymous SNV	MAP3K2:NM_006609:exon16:c.G1819A:p.A607T,MAP3K2:NM_001371910:exon17:c.G1819A:p.A607T,MAP3K2:NM_001371911:exon17:c.G1819A:p.A607T	.	434	1085	2	1	0	4	0.00183993	.	.	.	2227508	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.667	0.0685296003998	.	.	0.0006	0	0.0029	0	0	0.0006	0	0.0006	0.0002005	31	154602	rs774242849	0.0002	0.0002	0.0002	0.0002	0.0047	0.0002	0.0002	0.0033	0.0028	0.0005	0.0003	0	0	0	0.0047	0.0001	0.0005	0.0005	0.0002	0.0002	0.0002	0.0002	0.0006	0.0001	9.7e-05	0.0002	0.0001	4.815e-05	0	0	0	0	0	0.0170	0.0002	0	0.0006	0.001	0.78490	D	0.01	0.65728	D	0.994	0.66517	D	0.973	0.72923	D	0.000000	0.84330	D	0.046798	1	0.81001	D	2.035	0.55589	M	-0.44	0.69777	T	-3.3	0.65858	D	0.442	0.68342	-0.2896	0.75276	T	0.376	0.73362	T	10	0.13596717	0.25872	T	0.06853	0.70477	D	0.667	0.87625	.	.	0.86949000886	0.86822	0.952147293993105	0.95198	0.353523887301	0.37149	0.733664751053	0.72043	T	0.314227	0.68592	T	-0.0161684	0.49397	T	0.0551547	0.73924	D	0.138733604470688	0.16165	T	0.935106	0.75644	D	0.540861	0.69444	0.5738497	0.75315	0.540861	0.69445	0.5738497	0.75316	-9.144	0.68619	D	.	.	0.328	0.56436	B	.;.	.;.	4.493766	0.70227	25.5	0.99888290695735671	0.96281	0.96272	0.68332	D	AEFGBI	0.380563	0.46316	N	0.437904123104126	0.63522	4.587336	0.429813473656862	0.63429	4.576647	0.999929203431573	0.46280	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.636168	0.56350	0	.	.	5.7	4.83	0.61880	4.896000	0.62911	5.990000	0.52315	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.1381:0.7921:0.0:0.0698	9.893	0.40472	970	0.06235	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	0.004536	0.000000	0.009511	0.002924	0.000000	0.017241	0.003067	0.003788	0.07143	331.63	22	chr2	127307620	.	C	T	331.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.392;DP=188;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.07;ReadPosRankSum=-0.444;SOR=0.412	GT:AD:DP:GQ:PL	0/1:8,14:22:99:342,0,198	6	0	1	0
chr2	127419818	127419818	C	T	exonic	PROC	.	nonsynonymous SNV	PROC:NM_001375602:exon2:c.C59T:p.T20M	Thrombophilia due to protein C deficiency, autosomal dominant, Autosomal dominant;Thrombophilia due to protein C deficiency, autosomal recessive, Autosomal recessive	1	1512	7	2	0	11	0.00362438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	.	.	.	.	.	.	.	.	0.000461	12	26028	rs148979279	0.0002	0.0003	0.0002	0.0003	0.0049	0.0002	0.0002	0.0035	0.0030	0.0010	0.0004	0	0	0	0.0049	0.0002	0.0007	0.0006	0.0002	0.0002	0.0002	0.0002	0.0006	0.0002	0.0001	0.0002	0.0001	0.0001	0	0.0001	0	0	0	0.0170	0.0002	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1	122.21	12	chr2	127419818	.	C	T	122.21	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-0.14;DP=59;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.18;ReadPosRankSum=-0.388;SOR=0.412	GT:AD:DP:GQ:PL	0/1:7,5:12:99:131,0,210	4	0	1	2
chr2	132784298	132784298	G	T	exonic	NCKAP5	.	nonsynonymous SNV	NCKAP5:NM_207363:exon14:c.C2513A:p.A838D	.	436	1084	2	0	0	2	0.000921659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.0122249721342	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.028	0.54934	D	0.919	0.50927	P	0.51	0.47925	P	0.001705	0.38216	U	0.000000	1	0.08975	N	2.505	0.72935	M	0.89	0.45636	T	-1.08	0.28084	N	0.451	0.57775	-1.0462	0.15476	T	0.083	0.32499	T	10	0.23833513	0.40952	T	0.012225	0.30597	T	0.100	0.28662	0.09	0.01023	0.225033846419	0.22103	0.3132139575603709	0.31234	0.240212864778	0.26565	0.305776238441	0.11269	T	0.005525	0.04972	T	-0.154436	0.27618	T	-0.459613	0.26640	T	0.744059503078461	0.42957	D	0.805819	0.45382	T	0.2492459	0.47918	0.2271649	0.47718	0.2492459	0.47918	0.2271649	0.47717	-4.18	0.26461	T	.	.	0.178	0.38871	B	.;.	.;.	2.259925	0.28873	17.94	0.98893195234838549	0.48037	0.84434	0.43516	D	AEFBI	0.265951	0.38297	N	-0.200090190320815	0.33129	1.876186	-0.30038168124897	0.28086	1.563267	1.78607105011621E-4	0.05786	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.97	2.08	0.26079	2.306000	0.43333	.	.	0.672000	0.70159	0.995000	0.38783	0.138000	0.23065	0.123000	0.19290	0.2126:0.2842:0.5032:0.0	5.620	0.16731	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	.	.	.	.	.	.	.	.	0.07143	733.49	67	chr2	132784298	.	G	T	733.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.201;DP=374;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.95;ReadPosRankSum=-0.396;SOR=0.792	GT:AD:DP:GQ:PL	0/1:36,31:67:99:744,0,884	6	0	1	0
chr2	151680819	151680819	G	A	exonic	NEB	.	nonsynonymous SNV	NEB:NM_001164507:exon30:c.C2953T:p.R985C,NEB:NM_001164508:exon30:c.C2953T:p.R985C,NEB:NM_001271208:exon30:c.C2953T:p.R985C,NEB:NM_004543:exon30:c.C2953T:p.R985C	Nemaline myopathy 2, autosomal recessive, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	YES	1960898	Nemaline_myopathy_2|not_provided	MONDO:MONDO:0009725,MedGen:C1850569,OMIM:256030|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.288	0.0812072471807	8.4e-05	.	3.313e-05	0	8.642e-05	0	0	4.496e-05	0	0	3.23e-05	5	154602	rs371287755	2.261e-05	2.531e-05	2.046e-05	2.479e-05	0.0002	1.613e-05	1.419e-05	1.546e-05	1.307e-05	5.983e-05	4.473e-05	0	0	0	0.0002	2.253e-05	3.317e-05	1.16e-05	1.315e-05	1.314e-05	1.286e-05	1.347e-05	2.941e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.265	0.90016	M	2.61	0.13204	T	-3.77	0.72594	D	0.767	0.84609	-0.7658	0.57088	T	0.150	0.47787	T	10	0.82114995	0.81318	D	0.081207	0.73632	D	0.288	0.60691	.	.	0.531825494424	0.52830	0.41226509748115936	0.41142	0.388573688024	0.40119	0.74605345726	0.73864	T	0.23033	0.90934	T	-0.0786487	0.39935	T	-0.194384	0.55178	T	0.991448938846588	0.81740	D	0.980402	0.97045	D	0.5279072	0.68712	0.44894215	0.67921	0.5279072	0.68713	0.44894215	0.67922	-12.026	0.84978	D	.	.	0.562	0.67310	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.207500	0.87374	29.2	0.99950436466448012	0.99938	0.94383	0.60991	D	AEFGBI	0.772670	0.70692	D	0.880097343837602	0.90750	10.54857	0.822830098246725	0.91332	10.83434	0.999999999825022	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.67	5.67	0.87673	3.590000	0.53726	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.548	0.91005	863	0.32847	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	676.44	84	chr2	151680819	.	G	A	676.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.701;DP=326;ExcessHet=0;FS=0.85;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.05;ReadPosRankSum=-2.233;SOR=0.541	GT:AD:DP:GQ:PL	0/1:50,34:84:99:687,0,1239	6	0	1	0
chr2	151724333	151724333	T	C	exonic	NEB	.	nonsynonymous SNV	NEB:NM_001164507:exon8:c.A539G:p.K180R,NEB:NM_001164508:exon8:c.A539G:p.K180R,NEB:NM_001271208:exon8:c.A539G:p.K180R,NEB:NM_004543:exon8:c.A539G:p.K180R	Nemaline myopathy 2, autosomal recessive, Autosomal recessive	1	1504	16	1	0	18	0.00594845	.	.	.	195970	Nemaline_myopathy_2|Arthrogryposis_multiplex_congenita_6|not_provided|not_specified	MONDO:MONDO:0009725,MedGen:C1850569,OMIM:256030|MONDO:MONDO:0030281,MedGen:C5543431,OMIM:619334|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.340	.	0.0002	0.00139776	0.0015	0	0.0003	0	0	0.0002	0	0.0104	0.0011255	174	154602	rs200719359	0.0007	0.0007	0.0004	0.0009	0.0086	0.0006	0.0006	0.0081	0.0079	5.978e-05	0.0004	3.832e-05	2.52e-05	0	0.0038	0.0001	0.0005	0.0086	0.0004	0.0004	0.0002	0.0006	0.0081	0.0003	0.0003	0.0061	0.0054	2.408e-05	0	0.0002	0	0.0002	0	0	0.0002	0	0.0081	0.082	0.33254	T	0.006	0.70582	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	0.953661	0.37841	D	1.04	0.26193	L	0.09	0.61443	T	-1.18	0.33798	N	0.551	0.58629	-0.6722	0.61729	T	0.265	0.63620	T	10	0.008422345	0.00191	T	.	.	.	0.340	0.66202	.	.	0.659639129211	0.65679	0.41065231655102347	0.40981	0.310185408663	0.33336	0.672708392143	0.63223	T	0.031629	0.47295	T	-0.334456	0.05781	T	-0.247226	0.50091	T	0.0483303558240865	0.05204	T	0.943906	0.78806	D	0.1762592	0.38529	0.2803727	0.54012	0.20324376	0.42395	0.25889754	0.51629	-5.85	0.45008	T	.	.	0.129	0.27493	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.360083	0.67034	25.0	0.99906942206846239	0.97726	0.97144	0.72948	D	AEFGBI	0.900325	0.84571	D	0.622822180551296	0.74620	6.163752	0.67920020457798	0.80802	7.380668	0.999999999999703	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	6.02	6.02	0.97559	7.599000	0.82008	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	16.203	0.81923	889	0.27310	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.004028	0.000000	0.004076	0.002924	0.000000	0.000000	0.000000	0.007576	0.07143	662.53	61	chr2	151724333	.	T	C	662.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.793;DP=234;ExcessHet=0;FS=3.524;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.86;ReadPosRankSum=0.642;SOR=0.468	GT:AD:DP:GQ:PL	0/1:30,31:61:99:673,0,754	6	0	1	0
chr2	166457049	166457049	T	C	exonic	SCN7A	.	nonsynonymous SNV	SCN7A:NM_002976:exon11:c.A1111G:p.M371V	.	445	1074	3	0	0	3	0.0013947	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.684	0.0373498822132	0.0002	.	0.0003	0.0001	0.0004	0	0.0002	0.0001	0	0.0010	0.0002264	35	154602	rs200600632	0.0002	0.0002	0.0002	0.0002	0.0007	0.0002	0.0002	0.0006	0.0005	0	0.0003	3.841e-05	0	1.916e-05	0.0005	0.0001	0.0002	0.0007	0.0001	0.0001	0.0001	0.0001	0.0002	8.175e-05	6.73e-05	0.0002	0.0001	0	0	0.0001	0	0	0	0	0.0002	0	0	0.0	0.91255	D	0.079	0.79402	T	0.028	0.19712	B	0.037	0.23121	B	0.000004	0.62929	D	0.000000	0.736478	0.33775	D	1.675	0.43121	L	-4.88	0.98296	D	-3.11	0.70674	D	0.64	0.66443	0.828	0.94761	D	0.852	0.95049	D	10	0.39980024	0.55486	T	0.03735	0.57560	D	0.684	0.88443	.	.	0.751018391696	0.74877	0.3395786305824434	0.33870	0.0383258984852	0.04077	0.505364060402	0.39575	T	0.723505	0.92204	D	0.104165	0.64739	D	0.297588	0.88084	D	0.117320999090349	0.14165	T	0.941706	0.78221	D	0.7824525	0.82804	0.7647114	0.86101	0.7824525	0.82806	0.7647114	0.86102	-7.592	0.58255	D	.	.	0.131	0.33342	B	.;.;.;.;.;.	.;.;.;.;.;.	3.456896	0.48158	22.6	0.929820918576723	0.22565	0.94672	0.61935	D	AEFI	0.759355	0.69771	D	-0.15784374949064	0.34902	1.998083	-0.0226557480512399	0.38693	2.283355	0.11245047166652	0.16684	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.35	4.18	0.48473	4.203000	0.58251	1.489000	0.26876	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.915000	0.45038	0.0:0.0859:0.0:0.914	9.622	0.38889	557	0.71576	Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	586.63	78	chr2	166457049	.	T	C	586.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.728;DP=258;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.52;ReadPosRankSum=0.486;SOR=0.641	GT:AD:DP:GQ:PL	0/1:49,29:78:99:597,0,1176	6	0	1	0
chr2	167869136	167869136	A	C	exonic	B3GALT1	.	nonsynonymous SNV	B3GALT1:NM_020981:exon5:c.A97C:p.T33P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.268	0.00648494040856	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	0	1.375e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.199	0.20456	T	0.233	0.24913	T	0.0	0.02946	B	0.0	0.01387	B	0.006649	0.31890	N	0.336804	0.869987	0.35544	D	0.55	0.14455	N	1.12	0.38718	T	-0.23	0.10656	N	0.335	0.37613	-1.0355	0.18700	T	0.068	0.27947	T	10	0.13763586	0.26181	T	0.006485	0.17072	T	0.268	0.58254	0.257	0.19845	0.57433219186	0.57101	0.5847990694526424	0.58409	0.609113261058	0.55654	0.39185488224	0.23931	T	0.034598	0.23385	T	-0.0449639	0.45210	T	-0.302364	0.44475	T	0.158411011099815	0.17753	T	0.734227	0.35027	T	0.07100749	0.15689	0.14804015	0.35010	0.07100749	0.15688	0.14804015	0.35010	-3.488	0.16265	T	.	.	0.075	0.05579	B	.	.	2.552317	0.33039	19.22	0.97708482696457299	0.35483	0.90637	0.51979	D	AEFDBCI	0.805088	0.72977	D	-0.276094244565156	0.30075	1.673572	-0.0924912224609213	0.35700	2.068486	0.410756286967505	0.20210	0.706548	0.73137	0	0.547309	0.14657	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.75	3.0	0.33773	3.299000	0.51533	5.110000	0.47506	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.7092:0.0:0.0:0.2908	11.454	0.49412	753	0.51500	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1696.45	131	chr2	167869136	.	A	C	1696.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.321;DP=313;ExcessHet=0;FS=0.65;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.95;ReadPosRankSum=-0.669;SOR=0.595	GT:AD:DP:GQ:PL	0/1:62,69:131:99:1707,0,1432	6	0	1	0
chr2	169081538	169081538	T	C	exonic	DHRS9	.	nonsynonymous SNV	DHRS9:NM_001289763:exon2:c.T137C:p.V46A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.0167040000187	.	.	9.121e-06	0	0	0	0	1.594e-05	0	0	1.29e-05	2	154602	rs770757052	2.106e-05	2.121e-05	2.09e-05	2.123e-05	0.0005	1.494e-05	1.297e-05	0.0001	7.851e-05	0	0	0	0	0	0.0005	2.186e-05	5.114e-05	0	1.314e-05	1.313e-05	2.57e-05	0	2.941e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	0.203	0.20154	T	0.008	0.67890	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.89	0.84557	D	0.05	0.06369	N	0.187	0.20395	-0.9017	0.47814	T	0.276	0.64794	T	8	0.08540282	0.14414	T	0.016704	0.38080	T	0.069	0.20116	.	.	0.44143026662	0.43763	0.15964950293588814	0.15885	.	.	.	.	.	.	.	.	-0.186432	0.22784	T	-0.480393	0.24405	T	0.0334889292386855	0.02553	T	0.209279	0.02517	T	.	.	.	.	.	.	.	.	-3.426	0.15408	T	.	.	0.102	0.18206	B	.	.	0.762212	0.11320	7.941	0.9106300805362012	0.20315	0.26263	0.22942	N	AEFBHI	0.061879	0.11859	N	-0.897973175855878	0.10890	0.523	-0.924379179256222	0.11520	0.5873436	0.756245833727345	0.23438	0.553676	0.25195	0	0.547309	0.14657	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	5.79	-1.09	0.09397	0.344000	0.19703	0.379000	0.17760	0.665000	0.62972	0.021000	0.19753	0.000000	0.08366	0.360000	0.25886	0.1244:0.2766:0.129:0.47	1.779	0.02844	832	0.38914	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	941.53	55	chr2	169081538	.	T	C	941.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.64;DP=230;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.12;ReadPosRankSum=-1.287;SOR=0.748	GT:AD:DP:GQ:PL	0/1:20,35:55:99:952,0,423	6	0	1	0
chr2	174399923	174399923	G	A	exonic	SCRN3	.	nonsynonymous SNV	SCRN3:NM_001193528:exon3:c.G140A:p.C47Y,SCRN3:NM_024583:exon3:c.G161A:p.C54Y	.	.	.	.	.	.	.	.	0.9756	0.844	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.636	.	7.7e-05	0.00239617	0.0013	0.0001	9.183e-05	0.0001	0	1.605e-05	0	0.0107	0.0010996	170	154602	rs199584499	0.0005	0.0005	0.0003	0.0006	0.0088	0.0004	0.0004	0.0081	0.0079	0	0	0	3.212e-05	0	0	1.074e-05	0.0006	0.0088	0.0003	0.0003	0.0002	0.0005	0.0086	0.0002	0.0002	0.0064	0.0056	9.038e-05	0	0	0	0.0002	0	0	1.554e-05	0	0.0086	0.0	0.91255	D	0.001	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.48	0.92553	M	2.18	0.33412	T	-10.87	0.99258	D	0.904	0.92550	-0.4590	0.70101	T	0.264	0.63469	T	10	0.011220247	0.00246	T	.	.	.	0.636	0.86078	.	.	0.500303608228	0.49666	0.9169873366800069	0.91673	0.270108457044	0.29533	0.761164307594	0.76101	T	0.165995	0.80015	T	-0.017557	0.49200	T	0.20826	0.83574	D	0.38287091255188	0.28293	T	0.992601	0.99933	D	0.975907	0.98782	0.9557271	0.98735	0.975907	0.98782	0.9557271	0.98736	-12.416	0.86819	D	.	.	0.912	0.83756	P	.;.;.;.;.;.	.;.;.;.;.;.	5.862081	0.93860	33	0.99745115919289562	0.83778	0.99844	0.99801	D	AEFBI	0.945888	0.95471	D	0.936865058214395	0.93445	12.04423	0.869538429706844	0.94104	12.50756	0.999999999999998	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.618467	0.43123	0	0.613276	0.41899	0	.	.	5.56	5.56	0.83678	9.927000	0.98810	9.887000	0.82244	0.606000	0.46413	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	19.515	0.95155	888	0.27761	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002016	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.07143	577.83	25	chr2	174399923	.	G	A	577.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.72;DP=205;ExcessHet=0;FS=3.965;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=23.11;ReadPosRankSum=1.56;SOR=0.199	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:9,16:25:99:0|1:174399906_T_C:588,0,322:174399906	6	0	1	0
chr2	178684680	178684680	G	A	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon128:c.C28892T:p.P9631L,TTN:NM_001256850:exon129:c.C31673T:p.P10558L,TTN:NM_001267550:exon131:c.C32624T:p.P10875L	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	36	1	0	38	0.012633	.	.	.	56038	Tibial_muscular_dystrophy|Dilated_cardiomyopathy_1G|Cardiovascular_phenotype|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|not_specified|Cardiomyopathy|Supraventricular_tachycardia|Brugada_syndrome|Ventricular_tachycardia|Early-onset_myopathy_with_fatal_cardiomyopathy|not_provided	MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:CN230736|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:CN169374|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|Human_Phenotype_Ontology:HP:0004755,MedGen:C0039240|MONDO:MONDO:0015263,MedGen:C1142166,OMIM:PS601144,Orphanet:130|EFO:EFO_0005306,Human_Phenotype_Ontology:HP:0004756,MONDO:MONDO:0005477,MedGen:C0042514|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.099	0.0676674220286	0.0043	0.00179712	0.0051	0.0011	0.0040	0	0.0003	0.0077	0.0068	0.0020	0.0051552	797	154602	rs72650031	0.0062	0.0062	0.0062	0.0062	0.0138	0.0061	0.0061	0.0113	0.0104	0.0011	0.0048	0.0298	0	0.0008	0.0138	0.0066	0.0078	0.0019	0.0044	0.0044	0.0046	0.0043	0.0061	0.0041	0.0040	0.0056	0.0054	0.0013	0	0.0051	0.0271	0	0.0004	0.0170	0.0061	0.0066	0.0017	0.018	0.50676	D	.	.	.	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	0.953341	0.81001	D	.	.	.	0.01	0.62459	T	-4.2	0.75695	D	0.307	0.36884	-0.8865	0.49231	T	0.128	0.43564	T	9	0.0047104955	0.00099	T	0.067667	0.70230	D	0.099	0.28413	.	.	0.399449838166	0.39556	.	.	0.0853964992584	0.09651	0.350199282169	0.17950	T	.	.	.	-0.406057	0.02112	T	-0.34951	0.39260	T	0.0146866148041845	0.00305	T	0.670133	0.37107	T	.	.	.	.	.	.	.	.	-5.785	0.44513	T	.	.	0.118	0.24054	B	.;.;.;.	.;.;.;.	2.575469	0.33383	19.32	0.83374782489182619	0.14691	0.90434	0.51607	D	AEFBI	0.475036	0.51905	N	-0.154510048558569	0.35044	2.007901	-0.0064238421302907	0.39425	2.337319	0.0313608349272037	0.13997	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.63	4.76	0.60189	1.502000	0.35312	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.963000	0.52385	0.0699:0.0:0.7916:0.1385	9.833	0.40121	393	0.83123	.;.;.;.	.	.	.	.	.	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	0.011593	0.005051	0.009511	0.023392	0.000000	0.000000	0.015337	0.011364	0.07143	377.63	34	chr2	178684680	.	G	A	377.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.78;DP=195;ExcessHet=0;FS=2.928;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.11;ReadPosRankSum=0.625;SOR=1.053	GT:AD:DP:GQ:PL	0/1:19,15:34:99:388,0,418	6	0	1	0
chr2	178718746	178718746	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon81:c.G20722A:p.V6908I,TTN:NM_001256850:exon82:c.G23503A:p.V7835I,TTN:NM_001267550:exon84:c.G24454A:p.V8152I	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	.	.	.	.	.	.	.	.	.	.	55897	not_specified|Cardiovascular_phenotype|not_provided	MedGen:CN169374|MedGen:CN230736|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.263	0.0149077258008	.	.	4.147e-05	0	0	0.0002	0	1.501e-05	0	0.0001	3.23e-05	5	154602	rs397517507	4.447e-05	4.583e-05	3.676e-05	5.227e-05	0.0008	3.576e-05	3.258e-05	0.0006	0.0005	0	4.472e-05	0	0.0008	0	0	2.159e-05	3.313e-05	6.957e-05	5.26e-05	5.254e-05	3.856e-05	6.729e-05	0.0004	2.559e-05	1.831e-05	6.835e-05	2.86e-05	7.242e-05	0	6.551e-05	0	0.0004	0	0	2.941e-05	0	0	0.364	0.11770	T	.	.	.	0.018	0.17786	B	0.021	0.19346	B	.	.	.	.	0.963987	0.38380	D	.	.	.	-0.51	0.70597	T	-0.45	0.14782	N	0.05	0.11340	-0.6205	0.63968	T	0.281	0.65260	T	9	0.09499732	0.16934	T	0.014908	0.35329	T	0.263	0.57612	0.708	0.84418	0.424313518543	0.42050	.	.	0.0722242068583	0.08101	0.475994944572	0.35506	T	.	.	.	-0.253672	0.13652	T	-0.301835	0.44532	T	0.0224099806746072	0.00955	T	0.646135	0.29475	T	.	.	.	.	.	.	.	.	-3.975	0.24920	T	.	.	0.105	0.19194	B	.;.;.;.	.;.;.;.	2.464511	0.31755	18.84	0.9195098425394117	0.21279	0.38009	0.25891	N	AEFBI	0.145156	0.26829	N	-0.100061807074213	0.37390	2.17463	0.0345888616413918	0.41334	2.481476	0.684373324123639	0.22516	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	6.01	6.01	0.97420	1.108000	0.30736	.	.	0.599000	0.40250	0.443000	0.26511	0.998000	0.33993	0.998000	0.85391	0.0:0.9299:0.0:0.0701	13.683	0.61977	343	0.85802	.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1283.44	93	chr2	178718746	.	C	T	1283.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.437;DP=411;ExcessHet=0;FS=1.68;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.8;ReadPosRankSum=-0.441;SOR=0.529	GT:AD:DP:GQ:PL	0/1:41,52:93:99:1294,0,975	6	0	1	0
chr2	186504215	186504215	G	C	splicing	ZC3H15	NM_018471:exon6:c.717+1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0056	0.0007	0.0006	0.0009	0.0006	0.0006	0.0007	0.0007	0.0006	9.356e-05	0.0004	0.0002	0.0001	0.0009	0.0008	0.0006	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.300962	0.83045	D	0.194535	0.82825	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.169298	0.96223	35	0.9948224112750832	0.66959	0.99140	0.91816	D	ALL	.	.	.	1.14176403290314	0.98836	19.55828	0.977087065195557	0.98133	17.50421	1.0	0.98316	0.17398	0.03958	1	0.011162	0.00042	3	0.199235	0.04519	0	0.113624	0.03431	2	0.984412	0.91620	5.01	5.01	0.66477	9.889000	0.98569	11.679000	0.94198	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:0.0:1.0:0.0	18.684	0.91518	410	0.82135	.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4	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	0/1:13,10:23:34:.:.:34,0,160:.	1	0	4	2
chr2	190976854	190976854	G	C	exonic	STAT1	.	nonsynonymous SNV	STAT1:NM_001384880:exon21:c.C1985G:p.S662C,STAT1:NM_001384883:exon21:c.C1946G:p.S649C,STAT1:NM_001384885:exon21:c.C1886G:p.S629C,STAT1:NM_001384887:exon21:c.C1952G:p.S651C,STAT1:NM_001384888:exon21:c.C2015G:p.S672C,STAT1:NM_001384890:exon21:c.C1955G:p.S652C,STAT1:NM_001384882:exon22:c.C2039G:p.S680C,STAT1:NM_001384886:exon22:c.C2045G:p.S682C,STAT1:NM_001384889:exon22:c.C2045G:p.S682C,STAT1:NM_001384891:exon22:c.C2081G:p.S694C,STAT1:NM_007315:exon22:c.C2045G:p.S682C,STAT1:NM_139266:exon22:c.C2045G:p.S682C,STAT1:NM_001384881:exon23:c.C2051G:p.S684C	Immunodeficiency 31A, mycobacteriosis, autosomal dominant, Autosomal dominant;Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive, Autosomal recessive;Immunodeficiency 31C, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.517	0.448051586284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.432	0.09486	T	0.232	0.26306	T	0.105	0.73220	B	0.063	0.63340	B	0.000238	0.47286	D	0.258042	0.999998	0.81001	D	1.39	0.34934	L	-3.03	0.97054	D	-2.38	0.52451	N	0.408	0.47115	0.987	0.96976	D	0.925	0.97534	D	10	0.49664995	0.61305	T	0.448052	0.94290	D	0.517	0.79400	0.327	0.31034	0.853369178999	0.85195	0.8257847086598572	0.82536	1.28434564493	0.82608	0.550936222076	0.45989	T	0.698826	0.91310	D	0.195222	0.73447	D	0.0426461	0.73102	D	0.842530012130737	0.49535	D	0.963204	0.86510	D	0.30009037	0.52913	0.119336456	0.28803	0.30009037	0.52913	0.119336456	0.28803	-7.748	0.59341	D	0.769776404809919	0.85086	0.147	0.34004	B	.;.;.;.	.;.;.;.	4.402485	0.68034	25.2	0.98074034810465538	0.38054	0.98315	0.81549	D	AEFBHCI	0.623002	0.60711	D	0.484728511595359	0.66196	4.919205	0.563052176067769	0.72309	5.789776	0.999999999999746	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.65	5.65	0.86881	4.572000	0.60600	11.880000	0.98808	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.1327:0.8673:0.0	16.198	0.81861	801	0.44448	STAT1, SH2 domain;STAT1, SH2 domain;.;STAT1, SH2 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	.	.	.	.	.	.	.	.	0.07143	660.44	67	chr2	190976854	.	G	C	660.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.478;DP=251;ExcessHet=0;FS=3.363;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.86;ReadPosRankSum=-0.303;SOR=1.111	GT:AD:DP:GQ:PL	0/1:37,30:67:99:671,0,885	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	0/1:31,12:43:16:16,0,406	0	0	6	1
chr2	201492473	201492473	A	G	exonic	C2CD6	.	nonsynonymous SNV	C2CD6:NM_001168221:exon15:c.T3868C:p.F1290L	.	521	990	11	0	0	11	0.00552486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	.	.	0.00159744	0.0065	0.0006	0.0199	0	0	0.0015	0.0140	0.0130	0.0010349	160	154602	rs184129762	0.0015	0.0014	0.0011	0.0019	0.0143	0.0014	0.0014	0.0118	0.0114	0.0002	0.0010	3.989e-05	2.811e-05	5.722e-05	0.0143	0.0008	0.0018	0.0123	0.0010	0.0010	0.0008	0.0011	0.0108	0.0008	0.0008	0.0084	0.0076	0.0001	0.0055	0.0006	0	0	9.43e-05	0.0034	0.0010	0.0024	0.0108	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.24	0.36691	T	2.14	0.00347	N	0.066	0.03841	-0.9864	0.33494	T	0.034	0.14769	T	9	0.002725631	0.00042	T	.	.	.	0.042	0.11227	0.213	0.13210	0.0401082797425	0.02173	0.020741532748635407	0.02027	0.15686944455	0.17710	0.318503677845	0.13194	T	.	.	.	-0.712102	0.00031	T	-0.784631	0.02316	T	0.000877498213199432	0.00008	T	0.382862	0.09330	T	.	.	.	.	.	.	.	.	-3.04	0.10618	T	.	.	0.337	0.55713	B	.	.	0.905654	0.12797	9.314	0.71116001165546405	0.09520	0.00296	0.01581	N	AEFBI	0.022213	0.01082	N	-1.01495353258299	0.08293	0.3883259	-0.902287385471047	0.12041	0.6170562	2.09519457158267E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.23	2.04	0.25787	0.661000	0.24706	.	.	-0.274000	0.06627	0.001000	0.13787	0.970000	0.29701	0.899000	0.43558	0.2915:0.0:0.5406:0.1679	4.590	0.11694	572	0.70300	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009511	0.000000	0.000000	0.011905	0.000000	0.000000	0.017857	0.027027	0.07143	488.44	49	chr2	201492473	.	A	G	488.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.793;DP=227;ExcessHet=0;FS=1.092;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.97;ReadPosRankSum=0.302;SOR=0.507	GT:AD:DP:GQ:PL	0/1:27,22:49:99:499,0,721	6	0	1	0
chr2	210556738	210556738	C	T	exonic	CPS1	.	nonsynonymous SNV	CPS1:NM_001875:exon1:c.C5T:p.T2M,CPS1:NM_001122633:exon2:c.C5T:p.T2M,CPS1:NM_001369256:exon2:c.C38T:p.T13M,CPS1:NM_001369257:exon3:c.C5T:p.T2M	Carbamoylphosphate synthetase I deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	284537	Inborn_genetic_diseases|not_provided|Congenital_hyperammonemia,_type_I	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0009376,MedGen:C4082171,OMIM:237300,Orphanet:147	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.416	0.183816231014	0.0003	.	6.609e-05	0.0002	0	0	0	9.005e-05	0	0	5.17e-05	8	154602	rs150314086	8.491e-05	8.482e-05	8.585e-05	8.397e-05	0.0003	7.216e-05	6.803e-05	0.0002	0.0001	0.0002	0.0003	0.0010	5.042e-05	0.0001	0.0002	4.591e-05	0.0002	5.802e-05	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	0.0001	0.0001	0.0001	0.0003	0	0.0003	0.0009	0	0.0002	0	8.831e-05	0.0010	0	0.025	0.50676	D	0.0	0.92824	D	0.076	0.24253	B	0.01	0.14941	B	0.000065	0.52346	D	0.169407	0.994951	0.42484	D	0.975	0.24501	L	-3.39	0.97849	D	-0.68	0.19509	N	0.297	0.33578	0.529	0.90949	D	0.809	0.93568	D	10	0.2185871	0.38504	T	0.183816	0.85709	D	0.416	0.72631	.	.	0.942754961114	0.94215	0.6262863075733556	0.62561	0.814303318369	0.66875	0.619242668152	0.55623	T	0.013996	0.61784	T	-0.0713926	0.41103	T	-0.0103257	0.69663	D	0.0609135297966567	0.07311	T	0.864413	0.56300	D	0.063459486	0.13363	0.07761905	0.17308	0.063459486	0.13362	0.07761905	0.17308	-4.943	0.36215	T	.	.	0.262	0.49616	B	.;.;.;.;.;.	.;.;.;.;.;.	3.842057	0.55601	23.6	0.99856567355917891	0.93548	0.76365	0.37447	D	AEFBHCI	0.724105	0.67351	D	-0.124983076989101	0.36307	2.096869	0.0624972994517336	0.42681	2.585748	0.999999967756711	0.74766	0.653281	0.48532	0	0.588015	0.36545	0	0.675528	0.61593	0	0.567892	0.33627	0	.	.	5.78	4.9	0.63643	2.284000	0.43140	4.069000	0.41649	-0.173000	0.11020	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.9203:0.0:0.0797	12.256	0.53939	239	0.90673	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	851.44	57	chr2	210556738	.	C	T	851.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.86;DP=240;ExcessHet=0;FS=1.032;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.94;ReadPosRankSum=-1.296;SOR=0.882	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:32,25:57:99:0|1:210556728_A_ATCT:862,0,1221:210556728	6	0	1	0
chr2	215011594	215011594	G	T	exonic	ABCA12	.	nonsynonymous SNV	ABCA12:NM_015657:exon9:c.C1223A:p.S408Y,ABCA12:NM_173076:exon17:c.C2177A:p.S726Y	Ichthyosis, congenital, autosomal recessive 4A, Autosomal recessive;Ichthyosis, congenital, autosomal recessive 4B (harlequin), Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.623	0.169932061539	.	.	8.237e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs771847743	6.157e-06	6.156e-06	8.168e-06	4.125e-06	2.236e-05	2.9e-06	2.1e-06	1.94e-06	1.28e-06	0	2.236e-05	0	0	0	0	5.396e-06	3.312e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.41364	D	0.004	0.74150	D	1.0	0.90584	D	0.998	0.88582	D	0.004073	0.34148	N	0.261014	0.991785	0.41474	D	0.975	0.24501	L	-2.74	0.90735	D	-2.63	0.56466	D	0.737	0.78641	0.630	0.92287	D	0.743	0.91209	D	10	0.8314855	0.82310	D	0.169932	0.84762	D	0.623	0.85406	0.44	0.49484	0.932964551649	0.93228	0.8585757313114737	0.85820	0.833395876593	0.67722	0.606535851955	0.53826	T	0.682441	0.90689	D	0.156237	0.69851	D	0.0695123	0.74876	D	0.919265747070312	0.57789	D	0.814719	0.46890	T	0.26619288	0.49689	0.3119539	0.57199	0.26619288	0.49688	0.3119539	0.57198	-3.55	0.35088	T	0.4240165909947896	0.51231	0.581	0.68152	P	.;.	.;.	4.681525	0.74923	26.2	0.99372471630118642	0.61498	0.98373	0.82117	D	AEFI	0.638147	0.61667	D	0.561247509991425	0.70771	5.550476	0.559614284766424	0.72068	5.752048	0.884941782951476	0.25706	0.615465	0.37627	0	0.633656	0.55848	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.01	5.01	0.66477	6.206000	0.72085	11.832000	0.97554	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.961000	0.51904	0.0:0.0:1.0:0.0	15.598	0.76348	888	0.27761	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	359.46	18	chr2	215011594	.	G	T	359.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.139;DP=175;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=19.97;ReadPosRankSum=-0.247;SOR=0.551	GT:AD:DP:GQ:PL	0/1:5,13:18:99:370,0,120	6	0	1	0
chr2	218164579	218164579	G	T	exonic	CXCR1	.	nonsynonymous SNV	CXCR1:NM_000634:exon2:c.C633A:p.F211L	.	412	1088	21	1	0	23	0.0104593	.	.	.	719608	not_provided|CXCR1-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.450	.	7.7e-05	0.0165735	0.0086	0.0002	0.0003	0.0001	0	0.0003	0.0077	0.0617	0.0075225	1163	154602	rs142076386	0.0035	0.0035	0.0020	0.0050	0.0550	0.0034	0.0034	0.0537	0.0531	0.0002	4.472e-05	3.826e-05	0	3.744e-05	0.0036	8.093e-05	0.0040	0.0550	0.0019	0.0019	0.0010	0.0028	0.0569	0.0017	0.0016	0.0514	0.0492	7.215e-05	0	6.535e-05	0	0	0	0	7.349e-05	0.0009	0.0569	0.032	0.44694	D	0.153	0.32144	T	0.994	0.66517	D	0.975	0.73362	D	0.000000	0.84330	D	0.000000	0.538772	0.32036	D	1.875	0.49914	L	-1.03	0.76430	T	-5.65	0.86988	D	0.952	0.96072	-0.1507	0.78899	T	0.480	0.80124	T	10	0.0059427917	0.00133	T	.	.	.	0.450	0.75074	0.799	0.91874	0.824371596801	0.82270	0.5652445172485374	0.56451	0.407788582301	0.41625	0.663786649704	0.61950	T	0.340269	0.70931	T	-0.326529	0.06378	T	-0.199318	0.54712	T	0.123904139179399	0.14807	T	0.757724	0.38135	T	0.6581083	0.75798	0.57139146	0.75180	0.6581083	0.75799	0.57139146	0.75180	-4.812	0.34731	T	.	.	0.986	0.92581	P	.	.	2.021588	0.25690	16.85	0.96499743806918925	0.30037	0.38799	0.26070	N	AEFDBI	0.205204	0.33158	N	-0.519839084176775	0.21439	1.137772	-0.757956493004658	0.15527	0.8170388	0.00505545289077908	0.10811	0.446893	0.09132	0	0.563428	0.19063	0	0.563428	0.18855	0	0.530356	0.10902	0	.	.	4.56	-1.0	0.09675	0.493000	0.22160	2.183000	0.31145	-0.244000	0.07312	0.169000	0.23921	0.989000	0.31174	0.021000	0.11733	0.497:0.0:0.503:0.0	10.139	0.41902	928	0.17405	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.007049	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.030303	0.07143	1594.44	154	chr2	218164579	.	G	T	1594.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.512;DP=508;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.35;ReadPosRankSum=-0.484;SOR=0.683	GT:AD:DP:GQ:PL	0/1:93,61:154:99:1605,0,2558	6	0	1	0
chr2	218281940	218281940	C	T	exonic	TMBIM1	.	nonsynonymous SNV	TMBIM1:NM_001321428:exon2:c.G202A:p.G68S,TMBIM1:NM_001321432:exon2:c.G202A:p.G68S,TMBIM1:NM_022152:exon2:c.G202A:p.G68S,TMBIM1:NM_001321427:exon3:c.G202A:p.G68S,TMBIM1:NM_001321429:exon3:c.G202A:p.G68S,TMBIM1:NM_001321430:exon3:c.G202A:p.G68S,TMBIM1:NM_001321433:exon3:c.G202A:p.G68S,TMBIM1:NM_001321435:exon3:c.G202A:p.G68S,TMBIM1:NM_001321436:exon3:c.G202A:p.G68S	.	425	1075	22	0	0	22	0.0101289	0.9997	0.974	.	1667220	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.110	0.0272221098668	0.0027	0.00359425	0.0067	0.0014	0.0039	0.0009	0.0075	0.0096	0.0097	0.0051	0.0030142	466	154602	rs143066899	0.0033	0.0034	0.0034	0.0033	0.0060	0.0033	0.0032	0.0043	0.0037	0.0007	0.0016	7.82e-05	5.162e-05	0.0030	0.0060	0.0037	0.0027	0.0039	0.0029	0.0029	0.0031	0.0027	0.0045	0.0027	0.0026	0.0041	0.0039	0.0008	0	0.0025	0	0.0002	0.0034	0.0272	0.0045	0.0014	0.0037	0.167	0.91255	T	0.16	0.36101	T	0.947	0.53479	P	0.412	0.44859	B	0.280708	0.14951	N	0.705376	1	0.81001	D	1.7	0.43825	L	1.97	0.49642	T	-0.27	0.72353	N	0.341	0.38232	-1.0638	0.10831	T	0.076	0.30553	T	9	0.005088359	0.00110	T	0.027222	0.50054	D	0.110	0.31079	.	.	0.67004410122	0.66725	0.6658841597657029	0.66525	0.145403873013	0.16431	0.441463708878	0.30777	T	0.003875	0.32770	T	-0.277196	0.10968	T	-0.165822	0.57824	T	0.0159291498512667	0.00377	T	0.79822	0.50110	T	0.08824265	0.20578	0.107769124	0.25950	0.08824265	0.20577	0.107769124	0.25950	-4.85	0.35168	T	.	.	0.082	0.29860	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	5.966878	0.94209	34	0.99774211400294732	0.86174	0.93123	0.57387	D	AEFBI	0.618953	0.60457	D	0.151250537539999	0.48873	3.094103	0.15185216451695	0.47240	2.957257	0.999999971617966	0.74766	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	4.75	4.75	0.59954	2.997000	0.49145	7.553000	0.60314	0.587000	0.30956	0.979000	0.35152	1.000000	0.68203	0.379000	0.26312	0.0:1.0:0.0:0.0	15.278	0.73456	883	0.28872	.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	0.010032	0.005747	0.008219	0.003205	0.000000	0.025862	0.025806	0.003846	0.07143	187.53	19	chr2	218281940	.	C	T	187.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.447;DP=194;ExcessHet=0;FS=1.829;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.87;ReadPosRankSum=0.204;SOR=0.668	GT:AD:DP:GQ:PL	0/1:10,9:19:99:198,0,245	6	0	1	0
chr2	218425738	218425738	C	T	exonic	VIL1	.	nonsynonymous SNV	VIL1:NM_007127:exon4:c.C274T:p.R92W	Cholestasis, progressive canalicular (1)	44	1475	3	0	0	3	0.00101592	.	.	.	3202229	VIL1-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.351	0.0250417044686	.	0.00119808	0.0011	0	0.0002	0	0	3.009e-05	0	0.0080	0.000912	141	154602	rs201270409	0.0005	0.0005	0.0002	0.0008	0.0080	0.0005	0.0005	0.0075	0.0073	0	6.708e-05	0	2.519e-05	0	0.0009	4.137e-05	0.0003	0.0080	0.0003	0.0003	7.708e-05	0.0004	0.0075	0.0002	0.0002	0.0055	0.0049	2.406e-05	0	6.54e-05	0	0	0	0	1.47e-05	0	0.0075	0.011	0.58626	D	0.016	0.60972	D	0.895	0.49247	P	0.687	0.53665	P	0.726878	0.06346	N	1.167470	0.999998	0.58761	D	2.34	0.67151	M	0.46	0.56281	T	-2.26	0.55181	N	0.518	0.54845	-0.9227	0.45182	T	0.237	0.60451	T	10	0.01359567	0.00288	T	0.025042	0.48022	D	0.351	0.67234	0.549	0.66436	0.758333811532	0.75614	0.6455028910496621	0.64485	0.202961065636	0.22713	0.480121403933	0.36073	T	0.367701	0.73273	T	-0.378737	0.03173	T	-0.311538	0.43493	T	0.0732778432886534	0.09104	T	0.979802	0.93081	D	0.10392556	0.24565	0.11455216	0.27651	0.10392556	0.24565	0.11455216	0.27650	-9.892	0.75412	D	.	.	0.144	0.37820	B	.;.;.	.;.;.	4.225334	0.63937	24.6	0.99906784114164782	0.97726	0.15056	0.18722	N	AEFBI	0.610338	0.59920	D	0.0506516205339906	0.44173	2.696177	-0.0486055807391233	0.37550	2.200169	2.60534238559688E-4	0.06190	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	4.53	2.6	0.30173	-0.004000	0.12813	0.184000	0.15665	0.599000	0.40250	0.000000	0.06391	0.307000	0.24252	0.997000	0.79791	0.2906:0.3995:0.3099:0.0	6.876	0.23331	895	0.25842	Gelsolin-like domain;Gelsolin-like domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.000000	0.000000	0.002924	0.050000	0.000000	0.003049	0.000000	0.07143	287.45	52	chr2	218425738	.	C	T	287.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.15;DP=232;ExcessHet=0;FS=1.162;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.53;ReadPosRankSum=2.27;SOR=0.916	GT:AD:DP:GQ:PL	0/1:37,15:52:99:298,0,849	6	0	1	0
chr2	218809577	218809577	G	A	exonic	CYP27A1	.	nonsynonymous SNV	CYP27A1:NM_000784:exon2:c.G256A:p.V86M	Cerebrotendinous xanthomatosis, Autosomal recessive	0	1505	16	1	0	18	0.00594452	0.0086	0.204	YES	489519	Cardiovascular_phenotype|not_specified|Cholestanol_storage_disease	MedGen:CN230736|MedGen:CN169374|MONDO:MONDO:0008948,MedGen:C0238052,OMIM:213700,Orphanet:909	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.117	.	7.7e-05	0.00259585	0.0019	0	0.0002	0	0	0.0001	0	0.0133	0.0016817	260	154602	rs200604732	0.0009	0.0009	0.0005	0.0013	0.0135	0.0009	0.0008	0.0129	0.0126	2.99e-05	0	0	0	0	0.0042	8.009e-05	0.0007	0.0135	0.0005	0.0005	0.0003	0.0008	0.0133	0.0004	0.0004	0.0107	0.0097	7.268e-05	0	0	0	0	0	0.0034	0.0001	0.0005	0.0133	0.078	0.33923	T	0.102	0.38450	T	0.205	0.29827	B	0.196	0.36635	B	0.838521	0.06985	N	1.067230	0.999742	0.48716	D	1.495	0.37439	L	-0.37	0.68892	T	-0.79	0.21860	N	0.112	0.09914	-0.9229	0.45155	T	0.223	0.58678	T	9	0.0077741146	0.00177	T	.	.	.	0.117	0.32689	.	.	0.63602097216	0.63303	0.4362374113121281	0.43540	0.291509951523	0.31557	0.342153012753	0.16760	T	0.180344	0.53164	T	-0.489289	0.00656	T	-0.46393	0.26172	T	0.0210194873839611	0.00803	T	0.691131	0.30052	T	0.0681832	0.14832	0.07798235	0.17425	0.06506907	0.13870	0.07609204	0.16817	-2.996	0.10138	T	.	.	0.089	0.11941	B	.	.	1.801356	0.22893	15.80	0.98378260367567549	0.40822	0.53547	0.29398	D	AEFBI	0.606734	0.59696	D	-0.616661553390314	0.18443	0.9575853	-0.617367905274374	0.19047	1.020224	0.0123365008322595	0.12312	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.755437	0.99637	0	.	.	5.67	-2.95	0.05229	0.231000	0.17651	-0.244000	0.10566	-0.135000	0.12811	0.989000	0.36753	0.005000	0.19230	0.922000	0.45779	0.5223:0.1005:0.3772:0.0	8.749	0.33763	875	0.30485	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003525	0.000000	0.001359	0.002924	0.000000	0.000000	0.006098	0.007576	0.07143	567.63	55	chr2	218809577	.	G	A	567.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.047;DP=250;ExcessHet=0;FS=2.426;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.32;ReadPosRankSum=-0.085;SOR=1.167	GT:AD:DP:GQ:PL	0/1:32,23:55:99:578,0,844	6	0	1	0
chr2	219549780	219549780	C	A	exonic	TMEM198	.	nonsynonymous SNV	TMEM198:NM_001005209:exon5:c.C1009A:p.P337T,TMEM198:NM_001303098:exon6:c.C1009A:p.P337T	.	418	1090	14	0	0	14	0.00638104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	0.00323705259557	.	0.000399361	0.0005	0	0.0002	0	0	0.0003	0	0.0027	0.0004592	71	154602	rs199925077	0.0003	0.0003	0.0002	0.0004	0.0028	0.0003	0.0003	0.0025	0.0024	0	0.0002	0.0042	0	0	0.0017	6.745e-05	0.0005	0.0028	0.0002	0.0002	0.0002	0.0002	0.0021	0.0002	0.0001	0.0011	0.0009	7.216e-05	0	0.0001	0.0032	0.0002	0	0	7.35e-05	0.0005	0.0021	0.382	0.11120	T	0.718	0.05380	T	0.075	0.24198	B	0.01	0.14941	B	0.005510	0.32736	N	0.242908	0.910907	0.36408	D	-0.695	0.01866	N	.	.	.	1.04	0.01332	N	0.28	0.31702	-1.0200	0.23715	T	0.068	0.28013	T	9	0.006179601	0.00139	T	0.003237	0.07147	T	0.096	0.27654	.	.	0.112648838833	0.10856	0.43742012283597487	0.43659	0.703745904295	0.61285	0.44789993763	0.31658	T	0.004358	0.03768	T	-0.352476	0.04573	T	-0.284321	0.46359	T	0.0334120612226693	0.02539	T	0.707729	0.31835	T	0.13540974	0.31428	0.089428194	0.20911	0.13540974	0.31428	0.089428194	0.20911	-3.745	0.19985	T	.	.	0.066	0.02548	B	.;.	.;.	2.484727	0.32044	18.92	0.82584379440381361	0.14268	0.94715	0.62081	D	AEFBI	0.527307	0.54930	D	-0.276494831925197	0.30058	1.672555	-0.0189035211941782	0.38861	2.295715	0.999998855214042	0.74766	0.634777	0.41761	0	0.627178	0.54094	0	0.643519	0.47002	0	0.530356	0.10902	0	.	.	5.1	5.1	0.68917	4.775000	0.62040	5.946000	0.51564	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	18.700	0.91578	114	0.95383	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.050000	0.000000	0.000000	0.000000	0.07143	480.44	55	chr2	219549780	.	C	A	480.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.62;DP=253;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.74;ReadPosRankSum=-1.443;SOR=0.634	GT:AD:DP:GQ:PL	0/1:31,24:55:99:491,0,715	6	0	1	0
chr2	219557366	219557366	C	T	exonic	OBSL1	.	nonsynonymous SNV	OBSL1:NM_001173431:exon12:c.G4043A:p.R1348H,OBSL1:NM_015311:exon12:c.G4043A:p.R1348H	3-M syndrome 2	0	1520	2	0	0	2	0.000657462	.	.	.	1989393	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.207	0.0121104971851	.	.	.	.	.	.	.	.	.	.	.	.	.	rs866958379	2.427e-05	4.241e-05	2.446e-05	2.408e-05	2.976e-05	1.731e-05	1.523e-05	1.838e-05	1.582e-05	0	2.976e-05	0	2.814e-05	0	0	2.651e-05	3.551e-05	1.363e-05	6.571e-06	6.566e-06	1.285e-05	0	6.543e-05	0	0	.	.	0	0	6.543e-05	0	0	0	0	0	0	0	0.103	0.30097	T	0.09	0.40267	T	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	1	0.81001	D	1.1	0.28011	L	3.55	0.04746	T	-1.22	0.30964	N	0.487	0.52119	-0.9783	0.35390	T	0.024	0.10239	T	9	0.27477324	0.45032	T	0.01211	0.30386	T	0.207	0.49555	0.51	0.60693	0.236278675362	0.23226	0.37548883385310267	0.37462	0.681807175389	0.60070	0.398260653019	0.24826	T	0.023371	0.17850	T	-0.118152	0.33427	T	-0.407494	0.32515	T	0.218826062774515	0.21405	T	0.811819	0.48242	T	0.07607894	0.17182	0.063447304	0.12568	0.07607894	0.17181	0.063447304	0.12568	-6.732	0.52051	T	.	.	0.151	0.35519	B	.;.	.;.	4.511460	0.70647	25.6	0.99935906987742806	0.99621	0.81270	0.40709	D	AEFDBCI	0.787963	0.71759	D	0.383801876404025	0.60545	4.244477	0.377502786412661	0.60181	4.20286	0.999999790480107	0.74766	0.634777	0.41761	0	0.573888	0.26702	0	0.643519	0.47002	0	0.562822	0.20929	0	.	.	3.89	3.89	0.44098	2.813000	0.47701	5.597000	0.49014	0.599000	0.40250	0.941000	0.32681	1.000000	0.68203	0.999000	0.91618	0.3799:0.6201:0.0:0.0	9.579	0.38639	114	0.95383	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	0.000508	0.000000	0.001366	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	866.63	43	chr2	219557366	.	C	T	866.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.877;DP=231;ExcessHet=0;FS=3.119;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=20.15;ReadPosRankSum=1.38;SOR=0.653	GT:AD:DP:GQ:PL	0/1:10,33:43:99:877,0,194	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|1:38,40:78:99:0|1:232847516_CACA_C:1506,0,1446:232847516	2	0	5	0
chr2	240577851	240577851	A	C	exonic	RNPEPL1	.	nonsynonymous SNV	RNPEPL1:NM_018226:exon11:c.A2137C:p.S713R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.0211907387823	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.43393	D	0.087	0.40747	T	.	.	.	.	.	.	0.884645	0.07258	U	1.072320	1	0.08975	N	.	.	.	0.92	0.44461	T	-0.66	0.19085	N	.	.	-1.0324	0.19681	T	0.060	0.25163	T	10	0.07163364	0.10587	T	0.021191	0.43920	T	0.072	0.21020	.	.	0.162503812791	0.15892	0.2071671183611874	0.20632	0.701633187537	0.61175	0.491912513971	0.37704	T	.	.	.	-0.221784	0.17750	T	-0.556354	0.16720	T	0.0720196031800388	0.08932	T	0.79972	0.44511	T	0.054634977	0.10510	0.06604402	0.13472	0.054634977	0.10509	0.06604402	0.13472	-4.705	0.33465	T	.	.	0.216	0.44527	B	.;.	.;.	-0.030076	0.04080	0.954	0.98293124971993151	0.39973	0.18243	0.20179	N	AEFBCI	0.119067	0.23256	N	-0.986111109871577	0.08900	0.4190826	-1.02241604811884	0.09293	0.4615088	0.52619409453635	0.21138	0.736574	0.97449	0	0.702456	0.74545	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	4.11	-4.24	0.03519	-0.022000	0.12424	-1.795000	0.04712	-0.113000	0.14837	0.174000	0.23986	0.000000	0.08366	0.922000	0.45779	0.4526:0.0:0.5474:0.0	9.653	0.39072	994	0.00715	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	128.27	19	chr2	240577851	.	A	C	128.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.17;DP=168;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=6.75;ReadPosRankSum=0.658;SOR=0.368	GT:AD:DP:GQ:PL	0/1:13,6:19:99:138,0,317	5	0	1	1
chr2	241112239	241112239	C	T	splicing	PASK	NM_001252122:exon15:c.3428+1G>A;NM_015148:exon15:c.3533+1G>A;NM_001252119:exon15:c.3554+1G>A;NM_001252120:exon16:c.3533+1G>A	.	.	.	427	1087	8	0	0	8	0.00366636	1.0000	0.944	.	246919	Chronic_kidney_disease|not_specified	Human_Phenotype_Ontology:HP:0000106,Human_Phenotype_Ontology:HP:0001918,Human_Phenotype_Ontology:HP:0008671,Human_Phenotype_Ontology:HP:0012622,MONDO:MONDO:0005300,MedGen:C1561643|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.0015	0.000998403	0.0012	0.0003	0.0011	0	0.0003	0.0020	0.0011	6.061e-05	0.0012807	198	154602	rs140030739	0.0018	0.0018	0.0018	0.0018	0.0022	0.0017	0.0017	0.0021	0.0021	0.0004	0.0009	0.0013	0	0.0003	0.0021	0.0022	0.0015	4.64e-05	0.0014	0.0014	0.0017	0.0011	0.0024	0.0013	0.0012	0.0021	0.0020	0.0005	0.0110	0.0005	0.0017	0	0.0002	0	0.0024	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0995079	0.64239	D	0.364302	0.90864	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	4.609739	0.73095	25.9	0.99536339569681398	0.70212	0.93575	0.58592	D	AEFDBCI	.	.	.	1.16609010089012	0.99177	21.06445	1.01643747914686	0.98921	19.88587	1.0	0.98316	0.12189	0.03102	0	0.194	0.04241	0	0.175069	0.04249	0	0.092715	0.02821	0	0.987336	0.95773	5.69	5.69	0.88346	7.373000	0.78878	7.489000	0.59345	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.601000	0.31412	0.0:1.0:0.0:0.0	19.807	0.96531	988	0.01987	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	272.63	26	chr2	241112239	.	C	T	272.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.265;DP=180;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.49;ReadPosRankSum=1.24;SOR=0.495	GT:AD:DP:GQ:PL	0/1:14,12:26:99:283,0,347	6	0	1	0
chr3	10046601	10046601	T	G	exonic	FANCD2	.	nonsynonymous SNV	FANCD2:NM_001018115:exon15:c.T1156G:p.F386V,FANCD2:NM_001319984:exon15:c.T1156G:p.F386V,FANCD2:NM_001374253:exon15:c.T1156G:p.F386V,FANCD2:NM_001374254:exon15:c.T1156G:p.F386V,FANCD2:NM_033084:exon15:c.T1156G:p.F386V	Fanconi anemia, complementation group D2, Autosomal recessive	3	1514	5	0	0	5	0.00164853	.	.	.	239033	Fanconi_anemia|Ovarian_cancer|not_specified	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.048	.	.	.	0.0026	0.0004	0.0154	0.0022	0.0009	0.0016	0.0011	0.0002	0.0026649	412	154602	rs149125003	0.0006	0.0031	0.0006	0.0006	0.0058	0.0006	0.0005	0.0052	0.0050	0.0002	0.0058	0.0008	0.0013	0.0016	0.0002	0.0003	0.0010	8.129e-05	0.0047	0.0087	0.0046	0.0049	0.0202	0.0044	0.0043	0.0183	0.0176	0.0009	0.0033	0.0202	0.0047	0.0033	0.0052	0	0.0040	0.0053	0.0021	0.038	0.43393	D	0.056	0.46632	T	0.161	0.28372	B	0.106	0.31143	B	0.015442	0.28243	N	0.420852	0.995808	0.23196	N	1.795	0.47270	L	0.76	0.49919	T	-1.13	0.29114	N	0.448	0.48596	-1.0721	0.08957	T	0.027	0.11663	T	10	0.008343905	0.00189	T	.	.	.	0.048	0.13305	.	.	0.305410167561	0.30157	0.2524177736352058	0.25155	0.224801822649	0.25013	0.334772408009	0.15654	T	0.099961	0.40529	T	-0.123309	0.32585	T	-0.414902	0.31661	T	0.0281046908348799	0.01703	T	0.869813	0.57430	D	0.26443958	0.49511	0.09300031	0.21946	0.20685284	0.42873	0.10772509	0.25937	-5.198	0.38921	T	0.3961625374956277	0.48867	0.128	0.27313	B	.;.;.	.;.;.	1.401704	0.18160	13.58	0.90917655920035034	0.20166	0.11495	0.16672	N	AEFDGBI	0.094597	0.19124	N	-1.01724391030129	0.08246	0.3859466	-1.00807792792738	0.09607	0.4789305	0.00270519892485332	0.09647	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.655142	0.61905	0	.	.	5.73	-1.83	0.07410	-0.021000	0.12445	0.088000	0.14478	-0.243000	0.07376	0.006000	0.17386	0.073000	0.22253	0.960000	0.51673	0.1221:0.4836:0.0:0.3943	6.237	0.19977	397	0.82902	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.003788	0.08333	158.27	36	chr3	10046601	.	T	G	158.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.256;DP=333;ExcessHet=0;FS=1.496;MLEAC=1;MLEAF=0.083;MQ=55.98;MQRankSum=-2.642;QD=4.4;ReadPosRankSum=-2.155;SOR=0.35	GT:AD:DP:GQ:PL	0/1:26,10:36:99:168,0,765	5	0	1	1
chr3	14496539	14496539	C	T	exonic	GRIP2	.	nonsynonymous SNV	GRIP2:NM_001080423:exon22:c.G2701A:p.V901M	.	437	1080	5	0	0	5	0.00230947	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.000399361	0.0008	0.0003	0.0006	0	0.0003	0.0011	0	0.0006	0.0007309	113	154602	rs201046591	0.0007	0.0007	0.0007	0.0008	0.0049	0.0007	0.0007	0.0035	0.0030	0.0002	0.0013	0.0010	0	0.0002	0.0049	0.0007	0.0008	0.0008	0.0008	0.0008	0.0008	0.0009	0.0029	0.0007	0.0007	0.0022	0.0020	0.0002	0	0.0029	0.0009	0	0.0003	0	0.0009	0.0014	0.0004	.	.	.	0.172	0.34359	T	0.027	0.19556	B	0.018	0.18489	B	.	.	.	.	.	.	.	1.825	0.47900	L	.	.	.	.	.	.	0.371	0.41261	.	.	.	.	.	.	.	0.036270857	0.01917	T	.	.	.	.	.	.	.	0.573410036937	0.57009	0.334443893817282	0.33357	.	.	0.571992695332	0.48960	T	0.043249	0.26443	T	-0.340108	0.05381	T	-0.296696	0.45071	T	.	.	.	0.769523	0.39899	T	0.08214944	0.18909	0.29626632	0.55658	0.08214944	0.18909	0.29626632	0.55657	-4.573	0.31831	T	.	.	0.111	0.26700	B	.;.;.	.;.;.	2.506360	0.32366	19.02	0.79540607819623776	0.12788	0.54832	0.29713	D	AEFBI	.	.	.	.	.	.	.	.	.	0.827701835280447	0.24637	0.162113	0.03585	0	0.060609	0.00678	0	0.175069	0.04249	0	0.058706	0.01089	0	0.100064	0.22221	4.89	2.99	0.33673	2.170000	0.42071	1.418000	0.26339	0.549000	0.26987	0.963000	0.33788	0.807000	0.27003	0.672000	0.33309	0.0:0.7216:0.2784:0.0	14.611	0.68112	905	0.23532	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.005051	0.008152	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	381.46	40	chr3	14496539	.	C	T	381.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.37;DP=248;ExcessHet=0;FS=3.133;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.54;ReadPosRankSum=-0.908;SOR=1.292	GT:AD:DP:GQ:PL	0/1:25,15:40:99:392,0,598	6	0	1	0
chr3	14821206	14821206	A	C	exonic	FGD5	.	nonsynonymous SNV	FGD5:NM_001320276:exon1:c.A2135C:p.K712T,FGD5:NM_152536:exon1:c.A2135C:p.K712T	.	429	1090	3	0	0	3	0.00137426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.417	0.0577696567345	0.0003	.	0.0002	0	8.643e-05	0	0	0.0003	0	0	0.0001552	24	154602	rs373381188	0.0001	0.0001	0.0001	0.0002	3.508e-05	0.0001	0.0001	2.626e-05	2.305e-05	0	0	0.0058	0	0	0	3.508e-05	0.0004	1.159e-05	0.0002	0.0002	0.0002	0.0001	8.82e-05	0.0001	0.0001	3.762e-05	2.575e-05	0	0	0	0.0066	0	0	0	8.82e-05	0	0	0.001	0.78490	D	0.086	0.40909	T	0.968	0.56581	D	0.635	0.51908	P	0.000009	0.62929	D	0.000000	0.983178	0.39981	D	2.175	0.60977	M	-1.17	0.78199	T	-3.65	0.69950	D	0.383	0.47857	-0.0598	0.80997	T	0.453	0.78621	T	10	0.01464349	0.00308	T	0.05777	0.67084	D	0.417	0.72705	.	.	0.735673980653	0.73331	0.3578038235167019	0.35694	0.540742379595	0.51266	0.537477493286	0.44090	T	0.106314	0.41755	T	-0.0254857	0.48069	T	-0.0940889	0.63851	T	0.164849621063491	0.18223	T	0.884412	0.60756	D	0.38372657	0.59585	0.2907124	0.55095	0.38372657	0.59585	0.2907124	0.55094	-10.684	0.77896	D	.	.	0.416	0.67348	A	.;.;.	.;.;.	3.516879	0.49280	22.8	0.99799714113583782	0.88461	0.96000	0.67081	D	AEFDBI	0.689722	0.65029	D	0.453618086984083	0.64407	4.694763	0.461216678438459	0.65443	4.824138	0.970139604662155	0.29184	0.706548	0.73137	0	0.59043	0.45803	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.03	5.03	0.67015	5.574000	0.67124	7.001000	0.57196	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.8535:0.0:0.0:0.1465	10.342	0.43069	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	0.001007	0.005051	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	756.46	78	chr3	14821206	.	A	C	756.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.305;DP=278;ExcessHet=0;FS=3.03;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.7;ReadPosRankSum=-0.981;SOR=0.896	GT:AD:DP:GQ:PL	0/1:46,32:78:99:767,0,1221	6	0	1	0
chr3	15003967	15003967	C	G	exonic	NR2C2	.	nonsynonymous SNV	NR2C2:NM_001291694:exon2:c.C53G:p.A18G,NR2C2:NM_003298:exon2:c.C53G:p.A18G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.348	0.0295345532005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.189e-05	0.0009	5.651e-05	4.724e-05	5.923e-05	4.24e-05	3.867e-05	4.761e-05	4.337e-05	3.02e-05	0	3.857e-05	2.528e-05	0	0	5.923e-05	6.69e-05	3.495e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.42199	T	0.088	0.63109	T	0.0	0.02946	B	0.0	0.01387	B	0.002953	0.35672	N	0.313188	0.869993	0.35545	D	-0.14	0.04484	N	-3.3	0.93787	D	-1.5	0.68764	N	0.324	0.36464	0.217	0.86200	D	0.665	0.88392	D	10	0.1999422	0.36022	T	0.029535	0.52028	D	0.348	0.66956	0.082	0.00727	0.202312658747	0.19855	0.13027040555393532	0.12952	0.343984992891	0.36322	0.632090747356	0.57442	T	0.163841	0.50907	T	0.0950387	0.63753	D	-0.10126	0.63300	T	0.647998213768005	0.38376	D	0.841416	0.51891	T	0.14685042	0.33598	0.112335265	0.27105	0.14685042	0.33597	0.112335265	0.27104	-2.954	0.13971	T	.	.	0.074	0.62122	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.397345	0.47066	22.4	0.98891559513655258	0.48019	0.95884	0.66568	D	AEFBI	0.571784	0.57563	D	-0.0193053131226323	0.40981	2.443305	0.183621717806624	0.48950	3.104215	0.999976298748313	0.50053	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.31	5.31	0.75063	4.784000	0.62103	7.643000	0.63297	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.577	0.91115	588	0.69043	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4167	1660.79	141	chr3	15003967	.	C	G	1660.79	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-4.208;DP=1071;ExcessHet=6.1542;FS=258.487;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=1.78;ReadPosRankSum=1.42;SOR=10.961	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:108,33:141:99:.:.:164,0,3032:.	1	0	5	1
chr3	20140317	20140317	C	T	exonic	KAT2B	.	nonsynonymous SNV	KAT2B:NM_003884:exon13:c.C1957T:p.R653W	.	428	1062	31	1	0	33	0.015299	.	.	.	3206732	KAT2B-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.141	.	0.0036	0.00159744	0.0034	0.0007	0.0011	0	0.0008	0.0049	0.0132	0.0027	0.0033247	514	154602	rs116196143	0.0034	0.0034	0.0033	0.0034	0.0109	0.0033	0.0032	0.0087	0.0079	0.0005	0.0015	0.0182	5.038e-05	0.0008	0.0109	0.0033	0.0044	0.0038	0.0023	0.0023	0.0024	0.0022	0.0033	0.0021	0.0020	0.0027	0.0026	0.0005	0	0.0019	0.0179	0.0002	0.0003	0.0034	0.0031	0.0043	0.0033	0.085	0.32769	T	0.107	0.37730	T	0.996	0.68779	D	0.451	0.46123	P	0.003954	0.34294	N	0.381500	0.807127	0.34590	D	2.565	0.75005	M	1.91	0.23283	T	-5.62	0.86758	D	0.392	0.43320	-0.9454	0.41748	T	0.054	0.22997	T	10	0.012265682	0.00264	T	.	.	.	0.141	0.37795	.	.	0.287411543184	0.28351	0.7273030285561954	0.72674	0.916642512623	0.71263	0.370670676231	0.20928	T	0.840931	0.96290	D	-0.495169	0.00609	T	-0.48406	0.24015	T	0.0689269644871812	0.08499	T	0.987301	0.95681	D	0.37912828	0.59254	0.1573653	0.36800	0.37912828	0.59254	0.1573653	0.36799	-10.961	0.79444	D	.	.	0.238	0.47239	B	.	.	4.116573	0.61501	24.3	0.99855882320124989	0.93458	0.85128	0.44235	D	AEFI	0.418356	0.48602	N	0.37314403849247	0.59970	4.181216	0.338402836118541	0.57811	3.948447	0.982835378379117	0.30462	0.638212	0.43195	0	0.653731	0.59785	0	0.547309	0.15389	0	0.668105	0.65232	0	.	.	5.41	3.34	0.37357	2.554000	0.45507	1.830000	0.29108	0.599000	0.40250	0.981000	0.35396	0.865000	0.27529	0.740000	0.35438	0.3738:0.5337:0.0:0.0925	6.643	0.22113	676	0.60355	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006042	0.010101	0.004076	0.002924	0.000000	0.008621	0.015244	0.000000	0.07143	275.45	36	chr3	20140317	.	C	T	275.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.08;DP=209;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.65;ReadPosRankSum=1.31;SOR=0.818	GT:AD:DP:GQ:PL	0/1:24,12:36:99:286,0,612	6	0	1	0
chr3	24228952	24228952	G	A	exonic	THRB	.	nonsynonymous SNV	THRB:NM_000461:exon3:c.C8T:p.P3L,THRB:NM_001354708:exon3:c.C8T:p.P3L,THRB:NM_001354711:exon3:c.C8T:p.P3L,THRB:NM_001354713:exon3:c.C8T:p.P3L,THRB:NM_001374822:exon3:c.C8T:p.P3L,THRB:NM_001374823:exon3:c.C8T:p.P3L,THRB:NM_001374827:exon3:c.C8T:p.P3L,THRB:NM_001128176:exon4:c.C8T:p.P3L,THRB:NM_001128177:exon4:c.C8T:p.P3L,THRB:NM_001354709:exon4:c.C8T:p.P3L,THRB:NM_001354710:exon4:c.C8T:p.P3L,THRB:NM_001354712:exon4:c.C8T:p.P3L,THRB:NM_001374824:exon4:c.C8T:p.P3L,THRB:NM_001374825:exon4:c.C8T:p.P3L,THRB:NM_001374826:exon4:c.C8T:p.P3L,THRB:NM_001252634:exon5:c.C8T:p.P3L	Thyroid hormone resistance, Autosomal dominant;Thyroid hormone resistance, autosomal recessive, Autosomal recessive;Thyroid hormone resistance, selective pituitary, Autosomal dominant	4	1514	4	0	0	4	0.00131926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.577	0.126711156963	.	.	1.65e-05	0	0	0	0	1.5e-05	0.0011	0	1.94e-05	3	154602	rs760749837	1.027e-05	1.026e-05	1.09e-05	9.635e-06	0.0002	6.17e-06	4.89e-06	5.76e-06	4.55e-06	0	0	0	0	0	0.0002	1.08e-05	3.314e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.994	0.66517	D	0.981	0.75168	D	.	.	.	.	0.993617	0.41996	D	0.695	0.17993	N	-3.34	0.93975	D	-0.36	0.93974	N	0.688	0.69387	0.752	0.93822	D	0.784	0.92680	D	9	0.5077198	0.61916	D	0.126711	0.80842	D	0.577	0.82912	0.25	0.18757	0.857654564937	0.85628	0.08650499765988812	0.08584	0.0441243703134	0.04750	0.751009404659	0.74595	T	0.375417	0.73902	T	0.30893	0.83666	D	0.20598	0.83454	D	0.722324073314667	0.41817	D	0.855714	0.54342	D	0.1840385	0.39701	0.28108802	0.54088	0.1840385	0.39700	0.28108802	0.54087	-2.369	0.04946	T	.	.	0.182	0.80562	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.778558	0.77428	26.7	0.99827491835029358	0.90939	0.92483	0.55817	D	AEFI	0.744786	0.68766	D	0.621144978252162	0.74513	6.145606	0.690236196254897	0.81636	7.573546	0.999999958899645	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	6.05	6.05	0.98156	4.562000	0.60528	11.847000	0.97966	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	16.101	0.80984	853	0.34956	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	366.83	29	chr3	24228952	.	G	A	366.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.564;DP=225;ExcessHet=0;FS=1.536;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=0.461;SOR=0.33	GT:AD:DP:GQ:PL	0/1:13,16:29:99:377,0,355	6	0	1	0
chr3	31683812	31683812	C	A	exonic	OSBPL10	.	nonsynonymous SNV	OSBPL10:NM_001174060:exon7:c.G1356T:p.M452I,OSBPL10:NM_017784:exon8:c.G1548T:p.M516I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00431994488347	7.7e-05	.	7.413e-05	0	8.637e-05	0	0	0.0001	0	0	5.82e-05	9	154602	rs373301817	7.182e-05	7.182e-05	7.35e-05	7.013e-05	0.0003	6.047e-05	5.595e-05	0.0002	0.0002	0	0.0003	0	0	0	0.0002	6.924e-05	0.0002	0	0.0001	0.0001	0.0002	9.4e-05	0.0007	9.738e-05	8.253e-05	0.0004	0.0003	2.406e-05	0	0.0007	0	0	0	0.0034	0.0001	0.0005	0	0.447	0.09075	T	0.365	0.16717	T	0.0	0.02946	B	0.001	0.04355	B	0.307333	0.03992	N	1.391710	0.999997	0.08975	N	-1.1	0.00987	N	2.0	0.21473	T	-0.57	0.17210	N	0.157	0.18512	-0.9995	0.30058	T	0.015	0.06282	T	10	0.03754562	0.02116	T	0.00432	0.10498	T	0.026	0.05648	0.352	0.35084	0.297375071883	0.29337	0.24943365932217923	0.24857	0.273771757959	0.29875	0.243838340044	0.03146	T	0.018929	0.15174	T	-0.496756	0.00596	T	-0.640813	0.09609	T	0.0242875866625291	0.01181	T	0.485951	0.14839	T	0.017813131	0.00305	0.025224645	0.00560	0.017813131	0.00305	0.025224645	0.00560	-3.475	0.16084	T	.	.	0.097	0.15921	B	.;.	.;.	-0.057653	0.03902	0.857	0.6237401760376392	0.06946	0.29326	0.23792	N	AEFBI	0.234970	0.35764	N	-1.20472882820901	0.04930	0.2235852	-1.28434789216955	0.04641	0.2194107	0.991573368712674	0.32535	0.706548	0.73137	0	0.610034	0.51514	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.68	-4.91	0.02857	0.215000	0.17352	-1.130000	0.06241	-0.242000	0.07441	0.001000	0.13787	0.000000	0.08366	0.005000	0.06747	0.1613:0.2484:0.2156:0.3747	1.267	0.01891	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.07143	1593.44	144	chr3	31683812	.	C	A	1593.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.113;DP=332;ExcessHet=0;FS=1.326;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.07;ReadPosRankSum=0.082;SOR=0.82	GT:AD:DP:GQ:PL	0/1:79,65:144:99:1604,0,2151	6	0	1	0
chr3	41566092	41566092	A	C	exonic	ULK4	.	nonsynonymous SNV	ULK4:NM_001322501:exon31:c.T2253G:p.S751R,ULK4:NM_001322500:exon32:c.T3159G:p.S1053R,ULK4:NM_017886:exon32:c.T3159G:p.S1053R	.	434	1087	0	1	0	2	0.000919118	.	.	.	2727939	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.285	0.0266668745692	8.3e-05	.	0.0002	0	0	0	0	6.001e-05	0	0.0010	0.0001617	25	154602	rs373580662	0.0001	0.0001	8.985e-05	0.0002	0.0012	0.0001	0.0001	0.0010	0.0009	0	0	3.827e-05	0	0	0.0002	7.464e-05	6.624e-05	0.0012	7.234e-05	7.224e-05	6.427e-05	8.08e-05	0.0012	3.975e-05	3.13e-05	0.0005	0.0004	2.416e-05	0	0	0	0	0	0	5.881e-05	0	0.0012	0.054	0.38633	T	0.037	0.51737	D	0.93	0.51791	P	0.289	0.40655	B	0.037904	0.24345	U	0.235256	0.582295	0.31089	N	1.5	0.37844	L	-0.23	0.66652	T	-1.87	0.43717	N	0.8	0.79599	-0.8472	0.52161	T	0.184	0.53315	T	10	0.37523693	0.53781	T	0.026667	0.49557	D	0.285	0.60338	0.477	0.55502	0.797509459143	0.79561	0.4926775003027562	0.49188	0.179949505686	0.20241	0.561289012432	0.47449	T	0.006335	0.05765	T	-0.203925	0.20240	T	-0.111252	0.62512	T	0.142454724937689	0.16484	T	0.845515	0.52437	T	0.1571472	0.35426	0.21256165	0.45731	0.1571472	0.35425	0.21256165	0.45730	-8.514	0.64522	D	.	.	0.861	0.80338	P	.	.	2.586571	0.33543	19.37	0.99366892230257486	0.61240	0.89359	0.49776	D	AEFDGI	0.362248	0.45157	N	0.119022287977668	0.47350	2.96197	0.151419670722463	0.47217	2.955319	0.137308983028279	0.17206	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.836244	0.99985	0	.	.	5.42	3.05	0.34272	2.283000	0.43131	0.605000	0.19970	0.756000	0.94297	1.000000	0.71638	0.904000	0.28019	0.997000	0.79791	0.8538:0.0:0.1462:0.0	9.349	0.37291	825	0.40060	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	345.63	50	chr3	41566092	.	A	C	345.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.38;DP=228;ExcessHet=0;FS=2.524;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.91;ReadPosRankSum=0.963;SOR=1.023	GT:AD:DP:GQ:PL	0/1:33,17:50:99:356,0,746	6	0	1	0
chr3	42407127	42407127	T	C	exonic	LYZL4	.	nonsynonymous SNV	LYZL4:NM_001304386:exon2:c.A125G:p.Y42C,LYZL4:NM_144634:exon2:c.A125G:p.Y42C	.	414	1105	2	1	0	4	0.00180668	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.302	0.0393221552162	.	.	1.648e-05	0	0	0	0	1.499e-05	0.0011	0	1.29e-05	2	154602	rs767779528	7.524e-06	7.524e-06	4.084e-06	1.1e-05	0.0010	4.04e-06	2.95e-06	0.0005	0.0003	0	0	0	0	0	0.0010	2.698e-06	1.656e-05	1.159e-05	1.971e-05	1.97e-05	3.855e-05	0	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0.0005	0	0.0	0.91255	D	0.003	0.76473	D	1.0	0.90584	D	0.999	0.92359	D	0.000218	0.47681	D	0.087877	0.935693	0.37130	D	3.505	0.92816	H	0.91	0.44856	T	-8.26	0.96915	D	0.802	0.80278	-0.3945	0.72200	T	0.272	0.64380	T	10	0.8688055	0.86136	D	0.039322	0.58744	D	0.302	0.62290	0.511	0.60846	0.83472859845	0.83315	0.8991816920817075	0.89890	0.932263926279	0.71875	0.579627037048	0.50034	T	0.301156	0.67361	T	0.00877826	0.52859	T	-0.128313	0.61114	T	0.998519003391266	0.94365	D	0.845915	0.52533	T	0.7578943	0.81329	0.5479268	0.73865	0.7578943	0.81331	0.5479268	0.73865	-10.365	0.76068	D	.	.	0.670	0.71864	P	.;.	.;.	4.672807	0.74702	26.2	0.99783591178247077	0.87043	0.84565	0.43648	D	AEFDBI	0.435336	0.49601	N	0.6096219160995	0.73783	6.022769	0.499376685787741	0.67949	5.153089	0.756983379525086	0.23450	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.04	4.04	0.46262	3.734000	0.54760	7.006000	0.57214	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.549000	0.30150	0.0:0.0:0.0:1.0	9.935	0.40715	857	0.34089	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	1361.46	93	chr3	42407127	.	T	C	1361.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.691;DP=283;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.64;ReadPosRankSum=0.405;SOR=0.764	GT:AD:DP:GQ:PL	0/1:42,51:93:99:1372,0,1085	6	0	1	0
chr3	42865103	42865103	G	A	exonic	ACKR2	.	nonsynonymous SNV	ACKR2:NM_001296:exon3:c.G601A:p.G201R	.	427	1094	0	1	0	2	0.000913242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.0685648203006	0.0002	.	9.071e-05	9.641e-05	0	0	0	0.0001	0	0.0001	7.12e-05	11	154602	rs368758367	5.61e-05	5.609e-05	5.173e-05	6.051e-05	0.0009	4.61e-05	4.236e-05	0.0003	0.0002	2.987e-05	2.236e-05	0.0006	0.0002	0	0.0009	3.417e-05	0.0002	3.479e-05	3.945e-05	3.941e-05	3.856e-05	4.037e-05	4.83e-05	1.716e-05	1.13e-05	8e-06	2.99e-06	4.83e-05	0	0	0.0003	0	0	0	2.94e-05	0.0005	0	0.481	0.08212	T	0.422	0.14034	T	0.84	0.46486	P	0.138	0.33406	B	0.038636	0.24263	N	0.294137	0.999029	0.21801	N	2.695	0.78878	M	-0.57	0.71307	T	-0.82	0.22508	N	0.077	0.05162	-0.7960	0.55380	T	0.197	0.55173	T	9	0.081734866	0.13412	T	0.068565	0.70485	D	0.118	0.32913	0.424	0.46857	0.318828661733	0.31499	0.3135122243958117	0.31264	0.463161663979	0.45825	0.348383307457	0.17683	T	0.035487	0.23738	T	-0.27405	0.11309	T	-0.394762	0.33994	T	0.0393326509232082	0.03570	T	0.806219	0.46553	T	0.119216375	0.28074	0.12560314	0.30262	0.119216375	0.28074	0.12560314	0.30261	-4.169	0.26301	T	.	.	0.177	0.38747	B	.;.;.	.;.;.	3.108386	0.41921	21.4	0.9899645987564728	0.50044	0.14850	0.18617	N	AEFDBI	0.252525	0.37219	N	-0.263265674617669	0.30577	1.706263	-0.322731489052131	0.27366	1.518008	0.185631665965772	0.17933	0.497415	0.19182	0	0.547309	0.14657	0	0.48864	0.07692	0	0.542086	0.14980	0	.	.	4.49	4.49	0.54177	2.601000	0.45912	5.547000	0.48884	0.676000	0.76740	0.057000	0.21666	1.000000	0.68203	0.084000	0.17470	0.0952:0.0:0.9048:0.0	10.438	0.43636	653	0.62661	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	1053.46	93	chr3	42865103	.	G	A	1053.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.12;DP=274;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.33;ReadPosRankSum=2.52;SOR=0.63	GT:AD:DP:GQ:PL	0/1:53,40:93:99:1064,0,1251	6	0	1	0
chr3	45772599	45772599	G	A	exonic	SLC6A20	.	nonsynonymous SNV	SLC6A20:NM_001385683:exon5:c.C599T:p.A200V,SLC6A20:NM_020208:exon5:c.C599T:p.A200V	Hyperglycinuria, Autosomal dominant;Iminoglycinuria, digenic, Autosomal recessive, Digenic recessive	0	1517	5	0	0	5	0.00164528	.	.	.	290569	Hyperglycinuria	Human_Phenotype_Ontology:HP:0002931,Human_Phenotype_Ontology:HP:0003108,MONDO:MONDO:0007677,MedGen:C0543541,OMIM:138500	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.630	0.147819047246	.	.	1.762e-05	0	0	0	0	3.156e-05	0	0	1.29e-05	2	154602	rs747095857	1.232e-05	1.368e-05	1.77e-05	6.878e-06	4.478e-05	7.7e-06	6.35e-06	7.42e-06	5.72e-06	0	4.478e-05	0	2.52e-05	0	0	1.259e-05	1.656e-05	0	1.314e-05	1.313e-05	2.569e-05	0	2.413e-05	2.18e-06	8.2e-07	.	.	2.413e-05	0	0	0	0	0	0	1.47e-05	0	0	0.001	0.78490	D	0.002	0.79402	D	0.99	0.63424	D	0.806	0.58437	P	0.000002	0.62929	D	0.058756	0.998848	0.81001	D	2.425	0.70256	M	-1.14	0.77843	T	-3.23	0.65512	D	0.82	0.82257	0.103	0.84224	D	0.520	0.82048	D	10	0.9665354	0.96148	D	0.147819	0.82980	D	0.630	0.85769	0.828	0.93851	0.901667283156	0.90069	0.7968787289379258	0.79640	0.756038273139	0.64014	0.553038537502	0.46286	T	0.257886	0.62898	T	0.103846	0.64705	D	0.0872381	0.76059	D	0.938682973384857	0.60950	D	0.956938	0.83632	D	0.5387657	0.69327	0.4919257	0.70610	0.5387657	0.69328	0.4919257	0.70610	-9.008	0.67749	D	.	.	0.252	0.60624	B	.;.;.	.;.;.	4.486835	0.70057	25.5	0.99859521258879691	0.93820	0.99034	0.90260	D	AEFBI	0.900709	0.84655	D	0.403161634075232	0.61596	4.362865	0.300445707759725	0.55564	3.719524	0.999999996207283	0.74766	0.516011	0.20929	0	0.610034	0.51514	0	0.573078	0.19857	0	0.542086	0.14980	0	.	.	5.33	4.42	0.52775	10.003000	0.99689	8.353000	0.77016	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.051000	0.15275	0.0:0.1383:0.8617:0.0	15.599	0.76352	425	0.81160	.;.;.	.	.	.	.	.	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	674.49	77	chr3	45772599	.	G	A	674.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.06;DP=260;ExcessHet=0;FS=1.928;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.76;ReadPosRankSum=-1.406;SOR=0.477	GT:AD:DP:GQ:PL	0/1:47,30:77:99:685,0,1176	6	0	1	0
chr3	46676363	46676363	G	A	exonic	ALS2CL	.	nonsynonymous SNV	ALS2CL:NM_001190707:exon19:c.C2068T:p.R690W,ALS2CL:NM_147129:exon19:c.C2068T:p.R690W	.	422	1098	2	0	0	2	0.000909918	.	.	.	3698008	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.121	0.0198874830918	.	.	3.297e-05	0	8.642e-05	0	0	4.499e-05	0	0	2.59e-05	4	154602	rs761995012	3.215e-05	3.215e-05	2.451e-05	3.988e-05	0.0003	2.478e-05	2.221e-05	6.096e-05	3.952e-05	0	0.0001	0	2.519e-05	0	0.0003	3.148e-05	3.312e-05	1.159e-05	1.972e-05	1.97e-05	2.57e-05	1.346e-05	6.544e-05	5.24e-06	2.45e-06	.	.	2.415e-05	0	6.544e-05	0	0	0	0	1.47e-05	0	0	0.003	0.68238	D	0.002	0.79402	D	0.995	0.67487	D	0.549	0.49194	P	0.013329	0.28875	N	0.227351	0.982772	0.25983	N	2.35	0.67516	M	1.52	0.30669	T	-3.45	0.67589	D	0.6	0.62018	-1.0344	0.19046	T	0.073	0.29643	T	10	0.59663206	0.66679	D	0.019887	0.42364	T	0.121	0.33580	0.493	0.58048	0.383760037723	0.37989	0.44080285351257636	0.43997	0.340920239572	0.36029	0.315024703741	0.12666	T	0.245278	0.61454	T	-0.257988	0.13137	T	-0.382657	0.35411	T	0.732731640338898	0.42352	D	0.923908	0.72182	D	0.113869704	0.26889	0.15474921	0.36305	0.113869704	0.26889	0.15474921	0.36304	-7.759	0.59416	D	.	.	0.105	0.19357	B	.;.	.;.	4.988187	0.82676	27.8	0.99872953974966394	0.95076	0.76444	0.37492	D	AEFDBI	0.436104	0.49646	N	0.0840846131467284	0.45721	2.823949	-0.0142610148864902	0.39071	2.311039	0.999992078655127	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.95	3.0	0.33773	1.891000	0.39372	4.173000	0.42286	0.676000	0.76740	0.137000	0.23458	0.872000	0.27604	0.948000	0.49324	0.1011:0.0:0.6088:0.29	5.423	0.15708	317	0.87119	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	915.27	67	chr3	46676363	.	G	A	915.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.03;DP=236;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.66;ReadPosRankSum=0.906;SOR=0.69	GT:AD:DP:GQ:PL	0/1:31,36:67:99:925,0,729	5	0	1	1
chr3	47910712	47910712	C	G	exonic	MAP4	.	nonsynonymous SNV	MAP4:NM_001385664:exon8:c.G3640C:p.E1214Q,MAP4:NM_001385682:exon9:c.G3709C:p.E1237Q,MAP4:NM_001385687:exon10:c.G3760C:p.E1254Q,MAP4:NM_001385688:exon10:c.G3760C:p.E1254Q,MAP4:NM_001385689:exon10:c.G3760C:p.E1254Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.0128529258903	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.769e-05	0.0009	6.039e-05	7.517e-05	0.0002	5.633e-05	5.225e-05	6.57e-05	6.053e-05	0	0	3.979e-05	0	0	0.0002	7.944e-05	8.687e-05	1.266e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.213	0.26467	T	.	.	.	.	.	.	.	.	.	.	1	0.31597	N	.	.	.	2.59	0.13317	T	-0.35	0.12847	N	0.167	0.17691	-1.0527	0.13655	T	0.048	0.20355	T	5	0.09787628	0.17658	T	0.012853	0.31779	T	0.039	0.10176	0.211	0.12923	0.19168177325	0.18762	.	.	.	.	.	.	.	0.022675	0.17443	T	-0.326119	0.06410	T	-0.706224	0.05492	T	0.305331349372864	0.25223	T	0.729327	0.34443	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.208	0.43448	B	.	.	2.347421	0.30093	18.33	0.98505090803648987	0.42264	0.24800	0.22505	N	AEFGBCI	.	.	.	-0.124211931171064	0.36340	2.099225	-0.149403042939749	0.33432	1.912276	0.999999966076043	0.74766	0.421363	0.06395	0	0.546412	0.12157	0	0.536957	0.11973	0	0.466023	0.07079	0	.	.	5.13	4.24	0.49486	0.771000	0.26294	2.677000	0.33989	0.599000	0.40250	0.001000	0.13787	0.986000	0.30841	0.956000	0.50813	0.0:0.8339:0.1661:0.0	12.668	0.56215	8	0.99202	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	41.16	84	chr3	47910712	.	C	G	41.16	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-3.701;DP=542;ExcessHet=0;FS=88.288;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.58;ReadPosRankSum=-0.451;SOR=6.438	GT:AD:DP:GQ:PL	0/1:60,11:84:50:50,0,1288	4	0	1	2
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	0/1:30,10:40:9:9,0,468	2	0	4	1
chr3	48586470	48586470	C	T	exonic	COL7A1	.	nonsynonymous SNV	COL7A1:NM_000094:exon27:c.G3412A:p.V1138M	EBD inversa, Autosomal recessive;EBD, Bart type, Autosomal dominant;EBD, localisata variant (3);Epidermolysis bullosa dystrophica, AD, Autosomal dominant;Epidermolysis bullosa dystrophica, AR, Autosomal recessive;Epidermolysis bullosa pruriginosa, Autosomal recessive, Autosomal dominant;Epidermolysis bullosa, pretibial, Autosomal recessive, Autosomal dominant;Toenail dystrophy, isolated, Autosomal dominant;Transient bullous of the newborn, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	290989	COL7A1-related_disorder|not_provided|Epidermolysis_bullosa_dystrophica	.|MedGen:C3661900|MONDO:MONDO:0006543,MedGen:C0079294,Orphanet:303	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.242	0.0507760545315	7.7e-05	.	9.07e-05	9.621e-05	0	0	0	3.002e-05	0	0.0005	7.76e-05	12	154602	rs145048666	3.079e-05	3.078e-05	2.587e-05	3.576e-05	0.0004	2.347e-05	2.095e-05	0.0003	0.0002	8.961e-05	2.236e-05	0	0	0	0	8.093e-06	1.656e-05	0.0004	5.252e-05	5.249e-05	2.57e-05	8.056e-05	0.0004	2.555e-05	1.829e-05	7.285e-05	3.027e-05	4.811e-05	0	0	0	0	0	0	5.88e-05	0	0.0004	0.151	0.24564	T	0.173	0.30143	T	0.999	0.77913	D	0.947	0.68407	D	0.028840	0.25543	N	0.194924	0.999999	0.08975	N	2.075	0.57047	M	-1.07	0.76948	T	-0.43	0.14390	N	0.463	0.49965	-0.6786	0.61437	T	0.366	0.72651	T	10	0.37787953	0.53970	T	0.050776	0.64384	D	0.242	0.54781	.	.	0.874558810669	0.87333	0.5460547872894344	0.54531	0.250513331292	0.27618	0.466369360685	0.34183	T	0.227305	0.59256	T	-0.226134	0.17163	T	-0.240636	0.50737	T	0.126601533256048	0.15065	T	0.816218	0.47186	T	0.06531073	0.13945	0.061872657	0.12017	0.06531073	0.13945	0.061872657	0.12016	-3.413	0.15232	T	0.13130275179206227	0.13895	0.210	0.43721	B	.	.	2.917933	0.38724	20.8	0.92486560018808162	0.21920	0.36348	0.25512	N	AEFBCI	0.090633	0.18363	N	0.247516305348198	0.53515	3.520113	0.211298816381114	0.50475	3.23904	0.964307470438623	0.28750	0.661447	0.50134	0	0.588066	0.40923	0	0.644132	0.48003	0	0.542086	0.14980	0	.	.	4.88	3.74	0.42108	1.078000	0.30365	2.587000	0.33447	0.599000	0.40250	0.687000	0.28504	0.993000	0.31925	0.968000	0.53726	0.0:0.7246:0.0:0.2754	4.037	0.09218	11	0.98996	von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	946.44	95	chr3	48586470	.	C	T	946.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.45;DP=292;ExcessHet=0;FS=1.688;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.96;ReadPosRankSum=-1.353;SOR=0.712	GT:AD:DP:GQ:PL	0/1:57,38:95:99:957,0,1375	6	0	1	0
chr3	48645117	48645117	C	T	exonic	CELSR3	.	nonsynonymous SNV	CELSR3:NM_001407:exon25:c.G7890A:p.M2630I	.	415	1027	71	9	0	89	0.0415306	.	.	.	48715	Variant_of_unknown_significance|not_provided	MedGen:C2986382|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.393	.	0.0009	0.00319489	0.0044	0.0002	0.0027	0	0.0002	0.0026	0.0084	0.0197	0.0036869	570	154602	rs149614835	0.0024	0.0025	0.0019	0.0030	0.0382	0.0024	0.0024	0.0341	0.0325	0.0009	0.0017	0.0094	5.072e-05	0.0003	0.0382	0.0011	0.0040	0.0181	0.0018	0.0018	0.0015	0.0020	0.0190	0.0016	0.0015	0.0159	0.0147	0.0003	0	0.0020	0.0098	0	0.0002	0.0170	0.0013	0.0024	0.0190	0.006	0.61437	D	0.005	0.72224	D	0.987	0.61912	D	0.908	0.64494	P	.	.	.	.	1	0.81001	D	2.13	0.59329	M	1.29	0.35775	T	-3.59	0.69236	D	0.812	0.80767	-0.6440	0.62974	T	0.226	0.59007	T	9	0.011453748	0.00250	T	.	.	.	0.393	0.70844	0.547	0.66156	0.808317247251	0.80651	0.8152272965699411	0.81478	0.981655826999	0.73759	0.719656050205	0.69997	T	0.370865	0.73533	T	-0.112624	0.34336	T	0.0810421	0.75648	D	0.0384281591043975	0.03409	T	0.772323	0.40326	T	0.5032531	0.67286	0.45666093	0.68420	0.5032531	0.67287	0.45666093	0.68420	-10.2	0.75100	D	.	.	0.409	0.60090	A	.	.	4.422272	0.68507	25.2	0.99749842171488468	0.84152	0.98385	0.82238	D	AEFBI	0.885987	0.81699	D	0.678335262368401	0.78214	6.826448	0.68768746655041	0.81442	7.527931	0.999999999992481	0.74766	0.695654	0.57023	0	0.588015	0.36545	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	5.24	5.24	0.72863	7.541000	0.81014	2.197000	0.31255	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.828	0.92093	4	0.99387	GPCR, family 2-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.021148	0.015152	0.020436	0.058480	0.050000	0.025862	0.018293	0.015267	0.1429	1603.34	54	chr3	48645117	.	C	T	1603.34	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.789;DP=284;ExcessHet=0.3476;FS=1.355;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=11.79;ReadPosRankSum=1.81;SOR=0.838	GT:AD:DP:GQ:PL	0/1:31,23:54:99:531,0,802	5	0	2	0
chr3	49660642	49660642	G	A	exonic	BSN	.	nonsynonymous SNV	BSN:NM_003458:exon6:c.G8797A:p.V2933I	.	404	1080	36	2	0	40	0.0181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.0075180187029	0.0005	0.00179712	0.0016	0.0001	0.0012	0	0	0.0011	0.0023	0.0061	0.0013777	213	154602	rs140228596	0.0010	0.0010	0.0007	0.0012	0.0068	0.0009	0.0009	0.0064	0.0062	0.0001	0.0013	3.829e-05	0	0.0001	0.0066	0.0006	0.0015	0.0068	0.0008	0.0008	0.0008	0.0009	0.0058	0.0007	0.0007	0.0041	0.0036	0.0001	0	0.0031	0	0	0	0.0068	0.0006	0	0.0058	0.22	0.18956	T	0.394	0.15305	T	0.0	0.02946	B	0.001	0.04355	B	0.180672	0.17111	N	0.578066	0.984982	0.24752	N	0.49	0.13296	N	2.26	0.17596	T	-0.29	0.11728	N	0.217	0.24260	-1.0091	0.27198	T	0.023	0.09878	T	10	0.0044980347	0.00092	T	0.007518	0.19952	T	0.030	0.07022	.	.	0.138757226776	0.13463	0.05701304665050847	0.05642	0.225153463883	0.25054	0.496408551931	0.38328	T	0.130727	0.45980	T	-0.59564	0.00155	T	-0.625622	0.10749	T	0.0124090065337999	0.00203	T	0.582642	0.21138	T	0.038884904	0.05266	0.043235466	0.05332	0.038884904	0.05266	0.043235466	0.05331	-5.185	0.38789	T	.	.	0.068	0.02829	B	.	.	1.070448	0.14528	11.10	0.92405905492457152	0.21820	0.64535	0.32438	D	AEFDBI	0.196174	0.32317	N	-0.50733603732571	0.21843	1.162116	-0.369900094494517	0.25900	1.427168	0.950309610023665	0.27888	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.5	2.68	0.30839	0.688000	0.25103	0.887000	0.22442	0.676000	0.76740	0.029000	0.20367	0.605000	0.25739	0.993000	0.69303	0.2626:0.0:0.7374:0.0	7.503	0.26699	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	0.004028	0.005051	0.002725	0.000000	0.000000	0.000000	0.009146	0.003788	0.1429	1951.65	54	chr3	49660642	.	G	A	1951.65	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-1.316;DP=284;ExcessHet=0.3476;FS=2.119;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=13.84;ReadPosRankSum=1.68;SOR=0.904	GT:AD:DP:GQ:PL	0/1:21,33:54:99:946,0,593	5	0	2	0
chr3	49686750	49686750	C	G	exonic	MST1	.	nonsynonymous SNV	MST1:NM_020998:exon7:c.G781C:p.E261Q	.	405	1107	10	0	0	10	0.0044964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	0.0221806078997	.	.	0.0031	0.0060	0.0034	0.0037	0	0.0027	0.0041	0.0031	0.00073	19	26028	rs201944579	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0035	0.0002	0.0002	0.0005	0.0001	0.0001	0.0002	0.0002	9.895e-05	0	0.0005	0	0	9.99e-05	0	0.0002	0.0005	0.0002	0.487	0.08067	T	0.511	0.10785	T	0.575	0.38708	P	0.443	0.45803	B	0.288530	0.14811	N	0.531760	0.993125	0.81001	D	.	.	.	-0.3	0.67874	T	-0.54	0.16598	N	0.315	0.35514	-0.5302	0.67534	T	0.371	0.73016	T	10	0.02078408	0.00485	T	0.022181	0.45042	T	0.197	0.47942	.	.	0.801712144476	0.79986	0.5736695672780171	0.57295	0.763659519793	0.64390	0.596491217613	0.52408	T	.	.	.	0.0232016	0.54813	T	-0.204449	0.54224	T	0.0514656409417245	0.05755	T	0.593441	0.21910	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.31151	B	.	.	3.652228	0.51842	23.2	0.99617675938671457	0.75233	0.77796	0.38294	D	AEFBCI	0.664682	0.63376	D	0.408728035343709	0.61901	4.397673	0.486399716992331	0.67087	5.03744	0.99999999966497	0.74766	0.766844	0.99359	0	0.851219	0.99844	0	0.391439	0.06340	0	0.56751	0.32155	0	.	.	5.75	5.75	0.90390	3.091000	0.49896	7.583000	0.61020	0.598000	0.34611	0.989000	0.36753	1.000000	0.68203	0.958000	0.51230	0.0:1.0:0.0:0.0	19.952	0.97204	1	0.99630	Kringle|Kringle, conserved site|Kringle|Kringle|Kringle	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.020142	0.035714	0.006925	0.030973	0.000000	0.017544	0.026515	0.020492	0.07143	67.44	63	chr3	49686750	.	C	G	67.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.33;DP=289;ExcessHet=0;FS=18.961;MLEAC=1;MLEAF=0.071;MQ=49.99;MQRankSum=-4.915;QD=1.07;ReadPosRankSum=-1.317;SOR=3.036	GT:AD:DP:GQ:PL	0/1:54,9:63:78:78,0,1498	6	0	1	0
chr3	53292458	53292458	G	T	exonic	DCP1A	.	nonsynonymous SNV	DCP1A:NM_001290207:exon5:c.C517A:p.P173T,DCP1A:NM_001290204:exon6:c.C880A:p.P294T,DCP1A:NM_001290206:exon6:c.C631A:p.P211T,DCP1A:NM_018403:exon7:c.C994A:p.P332T,DCP1A:NM_001290205:exon8:c.C778A:p.P260T	.	426	1092	4	0	0	4	0.00182815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0505120082266	0.0062	0.00139776	0.0050	0.0008	0.0025	0	0.0064	0.0075	0.0022	0.0012	0.005181	801	154602	rs34229192	0.0069	0.0069	0.0071	0.0067	0.0081	0.0068	0.0067	0.0080	0.0079	0.0011	0.0021	0.0078	0	0.0047	0.0028	0.0081	0.0052	0.0014	0.0049	0.0049	0.0052	0.0046	0.0080	0.0046	0.0045	0.0074	0.0072	0.0014	0	0.0035	0.0075	0	0.0054	0	0.0080	0.0024	0.0006	.	.	.	0.56	0.18959	T	0.002	0.09854	B	0.004	0.10090	B	.	.	.	.	.	.	.	1.95	0.52479	M	.	.	.	.	.	.	0.27	0.36464	.	.	.	.	.	.	.	0.0080038905	0.00182	T	0.050512	0.64274	D	.	.	.	.	0.324009150485	0.32011	0.38244878352603096	0.38159	.	.	0.338424742222	0.16202	T	0.01075	0.09672	T	-0.269599	0.11801	T	-0.154064	0.58883	T	.	.	.	0.828817	0.49341	T	0.2888838	0.51888	0.5038363	0.71320	0.2888838	0.51888	0.5038363	0.71320	-3.917	0.22557	T	.	.	0.064	0.04002	B	.;.	.;.	2.125515	0.27058	17.33	0.86176792881069075	0.16363	0.86977	0.46383	D	AEFGBCI	0.222494	0.34698	N	.	.	.	.	.	.	0.974666095230642	0.29562	0.283894	0.04978	0	0.271743	0.05004	0	0.299256	0.05649	0	0.375513	0.06772	0	.	.	4.86	3.97	0.45241	1.717000	0.37612	4.615000	0.44052	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.1573:0.8427:0.0	13.421	0.60447	446	0.79659	.;.	.	.	.	.	rs34229192	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.005051	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	1125.44	100	chr3	53292458	.	G	T	1125.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.876;DP=300;ExcessHet=0;FS=2.566;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.25;ReadPosRankSum=-1.216;SOR=0.89	GT:AD:DP:GQ:PL	0/1:53,47:100:99:1136,0,1470	6	0	1	0
chr3	53292562	53292562	G	C	exonic	DCP1A	.	nonsynonymous SNV	DCP1A:NM_001290207:exon5:c.C413G:p.A138G,DCP1A:NM_001290204:exon6:c.C776G:p.A259G,DCP1A:NM_001290206:exon6:c.C527G:p.A176G,DCP1A:NM_018403:exon7:c.C890G:p.A297G,DCP1A:NM_001290205:exon8:c.C674G:p.A225G	.	427	1091	4	0	0	4	0.00182983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0349665841121	0.0063	0.00139776	0.0050	0.0008	0.0025	0	0.0064	0.0075	0.0022	0.0012	0.0051875	802	154602	rs35988197	0.0069	0.0069	0.0071	0.0067	0.0081	0.0068	0.0067	0.0080	0.0079	0.0010	0.0021	0.0078	0	0.0047	0.0028	0.0081	0.0052	0.0014	0.0049	0.0049	0.0052	0.0045	0.0079	0.0046	0.0045	0.0074	0.0072	0.0014	0	0.0035	0.0075	0	0.0053	0	0.0079	0.0024	0.0006	.	.	.	0.389	0.21011	T	0.988	0.62325	D	0.76	0.56425	P	.	.	.	.	.	.	.	1.78	0.46185	L	.	.	.	.	.	.	0.395	0.49692	.	.	.	.	.	.	.	0.009402096	0.00212	T	0.034967	0.56032	D	.	.	.	.	0.541875923249	0.53840	0.2256122484868594	0.22476	.	.	0.470529198647	0.34753	T	0.011278	0.10082	T	-0.224975	0.17318	T	-0.0899644	0.64164	T	.	.	.	0.849315	0.53201	T	0.16626175	0.36950	0.48547235	0.70218	0.16626175	0.36949	0.48547235	0.70219	-4.523	0.31188	T	.	.	0.131	0.39064	B	.;.	.;.	3.857926	0.55934	23.7	0.83482152682483601	0.14750	0.95973	0.66961	D	AEFBI	0.498457	0.53255	N	.	.	.	.	.	.	0.9933578246098	0.33183	0.283894	0.04978	0	0.271743	0.05004	0	0.299256	0.05649	0	0.375513	0.06772	0	.	.	5.31	5.31	0.75063	4.873000	0.62751	9.559000	0.80991	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.1442:0.8558:0.0	14.743	0.69087	446	0.79659	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.005051	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	1054.44	92	chr3	53292562	.	G	C	1054.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.953;DP=280;ExcessHet=0;FS=0.788;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.46;ReadPosRankSum=-0.971;SOR=0.561	GT:AD:DP:GQ:PL	0/1:49,43:92:99:1065,0,1306	6	0	1	0
chr3	53886895	53886895	T	G	exonic	SELENOK	.	unknown	UNKNOWN	.	439	1070	9	4	0	17	0.00788132	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.250	.	0.0036	0.00978435	0.0070	0.0207	0.0856	0.0013	0.0046	0.0022	0	0.0018	0.0032794	507	154602	rs11562	0.0017	0.0018	0.0019	0.0016	0.0199	0.0017	0.0017	0.0187	0.0182	0.0130	0.0199	0	0.0008	0.0026	0.0019	0.0007	0.0021	0.0018	0.0066	0.0067	0.0057	0.0076	0.0249	0.0063	0.0062	0.0228	0.0220	0.0127	0	0.0249	0	0.0012	0.0024	0	0.0008	0.0061	0.0014	0.379	0.12109	T	0.491	0.11515	T	0.0	0.02946	B	0.002	0.06944	B	0.000003	0.62929	D	0.106439	0.990094	0.41086	D	.	.	.	0.94	0.43672	T	-0.11	0.08653	N	0.188	0.37301	-1.0989	0.04227	T	0.032	0.13592	T	9	0.0026183426	0.00040	T	.	.	.	0.250	0.55888	0.207	0.12356	0.144782658237	0.14088	.	.	0.366090419773	0.38189	0.495579183102	0.38213	T	0.005959	0.05402	T	-0.433535	0.01412	T	-0.379924	0.35731	T	0.018607332201682	0.00574	T	0.563744	0.19863	T	0.13985957	0.32291	0.108434	0.26120	0.13985957	0.32291	0.108434	0.26120	.	.	.	.	.	0.128	0.27222	B	.;.	.;.	2.653826	0.34557	19.66	0.97953524397406766	0.37122	0.88904	0.49062	D	AEFGBI	0.228308	0.35199	N	-0.3540956097411	0.27123	1.485536	-0.188308152228182	0.31964	1.813994	0.999998399160924	0.74766	0.732398	0.92422	0	0.658105	0.61773	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.33	4.15	0.47978	1.578000	0.36135	2.770000	0.34664	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.1498:0.8502	11.530	0.49859	649	0.63102	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.000000	0.005450	0.000000	0.000000	0.000000	0.006098	0.000000	0.07143	397.46	47	chr3	53886895	.	T	G	397.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.807;DP=229;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.46;ReadPosRankSum=-1.09;SOR=0.715	GT:AD:DP:GQ:PL	0/1:31,16:47:99:408,0,789	6	0	1	0
chr3	56633868	56633868	G	T	exonic	TASOR	.	nonsynonymous SNV	TASOR:NM_001112736:exon18:c.C2923A:p.Q975K,TASOR:NM_001365635:exon18:c.C2923A:p.Q975K	.	431	1038	48	5	0	58	0.027179	.	.	.	708997	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.087	.	0.0012	0.00539137	0.0080	0.0008	0.0030	0	0.0007	0.0026	0.0076	0.0397	0.0051616	798	154602	rs200904014	0.0041	0.0041	0.0031	0.0050	0.0341	0.0040	0.0040	0.0330	0.0326	0.0005	0.0014	0.0007	0.0001	0.0004	0.0182	0.0023	0.0044	0.0341	0.0023	0.0023	0.0021	0.0026	0.0282	0.0021	0.0020	0.0244	0.0229	0.0003	0	0.0022	0.0006	0.0002	9.434e-05	0.0068	0.0023	0.0033	0.0282	0.109	0.29288	T	0.448	0.13030	T	0.2	0.29645	B	0.051	0.25434	B	.	.	.	.	1	0.81001	D	.	.	.	2.76	0.11515	T	-0.74	0.20791	N	0.238	0.26837	-1.0940	0.04899	T	0.021	0.08824	T	9	0.00344491	0.00061	T	.	.	.	0.087	0.25287	.	.	0.082315109003	0.07666	.	.	0.361154789686	0.37775	0.47948050499	0.35985	T	.	.	.	-0.519304	0.00444	T	-0.493653	0.23008	T	0.00853554385659028	0.00104	T	0.873313	0.58144	D	.	.	.	.	.	.	.	.	-3.72	0.19614	T	.	.	0.097	0.15966	B	.	.	3.751016	0.53764	23.4	0.98952803109616327	0.49170	0.88481	0.48429	D	AEFBCI	0.550794	0.56313	D	-0.10567149547457	0.37144	2.156905	0.102129240639342	0.44657	2.743241	0.850442536593728	0.25034	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.62	4.69	0.58546	5.023000	0.63858	9.865000	0.82085	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.8623:0.1377	15.662	0.76948	283	0.88803	.	.	.	.	.	.	Likely benign	0	0	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	0.018630	0.010101	0.017663	0.026316	0.000000	0.008621	0.021341	0.026515	0.07143	645.63	51	chr3	56633868	.	G	T	645.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.531;DP=239;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.66;ReadPosRankSum=-1.222;SOR=0.565	GT:AD:DP:GQ:PL	0/1:23,28:51:99:656,0,546	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|1:40,51:91:99:0|1:75730450_C_T:2021,0,1486:75730450	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	0/1:43,6:49:94:.:.:94,0,1709:.	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	0/1:77,14:91:99:.:.:127,0,3072:.	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|1:75,22:97:99:0|1:75736891_G_A:698,0,3063:75736891	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|1:83,22:105:99:0|1:75736920_C_A:674,0,3416:75736920	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|1:84,26:110:99:0|1:75736920_C_A:833,0,3449:75736920	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	0/1:80,31:111:99:597,0,2588	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	0/1:76,56:132:99:1247,0,2162	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	0/1:85,63:148:99:.:.:1726,0,2953:.	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|1:82,53:135:99:0|1:75737092_C_T:1948,0,3279:75737092	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|1:83,51:134:99:0|1:75737092_C_T:1892,0,3332:75737092	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|1:82,46:128:99:0|1:75737092_C_T:1685,0,3305:75737092	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|1:85,30:115:99:0|1:75737092_C_T:1004,0,3423:75737092	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|1:80,12:92:99:0|1:75737151_G_A:263,0,3290:75737151	1	0	6	0
chr3	75737519	75737519	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C2104T:p.P702S,ZNF717:NM_001290208:exon5:c.C2104T:p.P702S,ZNF717:NM_001290209:exon5:c.C1954T:p.P652S,ZNF717:NM_001324027:exon5:c.C2104T:p.P702S	.	378	414	722	8	0	738	0.471264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.231	0.0020371222204	.	.	.	.	.	.	.	.	.	.	0.0847549	2206	26028	rs80089603	0.0009	0.0009	0.0010	0.0008	0.0241	0.0009	0.0009	0.0227	0.0221	0.0241	0.0014	0.0065	0.0009	0	0.0016	6.293e-05	0.0031	0.0001	0.0071	0.0074	0.0072	0.0070	0.0235	0.0067	0.0066	0.0223	0.0218	0.0235	0	0.0024	0.0084	0.0025	0	0.0034	4.409e-05	0.0071	0.0006	0.014	0.53172	D	0.014	0.62352	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	3.28	0.06523	T	-2.65	0.56787	D	0.082	0.05799	-0.9616	0.38877	T	0.011	0.04274	T	9	0.0059270263	0.00133	T	0.002037	0.03721	T	0.231	0.53208	.	.	0.0297737177859	0.01360	0.030845822720570865	0.03033	.	.	0.227284103632	0.01773	T	.	.	.	-0.138909	0.30065	T	-0.437309	0.29111	T	0.612736403942108	0.36911	D	0.140186	0.01129	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.25166	B	.	.	2.134754	0.27180	17.37	0.9793642767632269	0.36999	0.50764	0.28739	D	AEFDBHCI	0.281183	0.39482	N	-0.656716686745216	0.17265	0.8869353	-0.759493038371137	0.15489	0.8148735	0.999998040796218	0.74766	0.460665	0.09802	0	0.601575	0.49859	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.27	0.281	0.14938	5.209000	0.65041	.	.	0.560000	0.28382	1.000000	0.71638	0.000000	0.08366	0.002000	0.04165	0.0:0.0:0.7085:0.2915	6.406	0.20867	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3571	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	0/1:68,68:136:99:.:.:2492,0,2457:.	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|1:86,65:151:99:0|1:75737590_A_G:2436,0,3405:75737590	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|1:90,69:159:99:0|1:75737590_A_G:2626,0,3571:75737590	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|1:91,70:161:99:0|1:75737590_A_G:2665,0,3610:75737590	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|1:96,64:160:99:0|1:75737590_A_G:2398,0,3838:75737590	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|1:79,64:143:99:0|1:75737590_A_G:2450,0,3125:75737590	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|1:99,45:144:99:1|0:75737791_C_A:1558,0,3894:75737791	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|1:99,34:133:99:0|1:75737881_T_C:942,0,3873:75737881	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|1:102,26:128:99:0|1:75737881_T_C:727,0,4185:75737881	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	0/1:104,16:122:99:.:.:629,0,4234:.	1	0	6	0
chr3	75738008	75738008	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1615A:p.E539K,ZNF717:NM_001290208:exon5:c.G1615A:p.E539K,ZNF717:NM_001290209:exon5:c.G1465A:p.E489K,ZNF717:NM_001324027:exon5:c.G1615A:p.E539K	.	374	899	248	1	0	250	0.12207	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00103100052401	.	.	0.0035	0	0	0	0	0.0041	0	0.0070	0.0381512	993	26028	rs77322475	0.0003	0.0005	0.0003	0.0004	0.0006	0.0003	0.0003	0.0005	0.0004	0.0002	3.974e-05	0.0002	0	2.459e-05	0	0.0004	0.0002	0.0006	0.0003	0.0004	0.0003	0.0004	0.0054	0.0003	0.0002	0.0038	0.0032	0.0001	0	0	0.0003	0	9.43e-05	0	0.0002	0.0009	0.0054	0.057	0.37966	T	0.059	0.45961	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.2	0.07236	T	-2.57	0.55501	D	0.164	0.17278	-0.9770	0.35683	T	0.011	0.04042	T	9	0.006899923	0.00157	T	0.001031	0.01144	T	0.040	0.10527	.	.	0.0138822411134	0.00435	0.004688527706481307	0.00441	.	.	0.455887436867	0.32748	T	.	.	.	-0.247215	0.14443	T	-0.592883	0.13417	T	0.0202189277908029	0.00722	T	0.157184	0.01392	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.163	0.35931	B	.	.	0.663217	0.10314	7.047	0.74861509555931272	0.10855	0.00293	0.01568	N	AEFDBHCIJ	0.019046	0.00627	N	-1.65826808888533	0.01001	0.04337943	-1.78840371790065	0.00797	0.0355687	0.999985886557565	0.51787	0.566229	0.32551	0	0.615513	0.52658	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.8	-3.59	0.04290	-1.723000	0.01966	.	.	-1.085000	0.01553	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1742:0.3948:0.172:0.259	0.971	0.01326	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2143	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|1:143,15:158:99:0|1:75737994_T_C:187,0,5875:75737994	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|1:121,11:132:98:0|1:75737994_T_C:98,0,5048:75737994	4	0	3	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	0/1:39,6:45:45:45,0,1001	1	0	5	1
chr3	75783319	75783319	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon2:c.A44G:p.K15R,ZNF717:NM_001290208:exon2:c.A44G:p.K15R,ZNF717:NM_001290210:exon2:c.A44G:p.K15R,ZNF717:NM_001324027:exon2:c.A44G:p.K15R,ZNF717:NM_001324026:exon3:c.A44G:p.K15R	.	435	1081	6	0	0	6	0.00276753	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.000564864142892	.	0.000599042	0.0019	0	0	0	0.0067	0.0020	0	0.0019	0.0003816	59	154602	rs200732985	0.0016	0.0016	0.0015	0.0017	0.0025	0.0016	0.0015	0.0019	0.0018	0.0001	0.0017	0.0004	0	0.0048	0.0025	0.0016	0.0013	0.0021	0.0018	0.0018	0.0014	0.0022	0.0040	0.0016	0.0015	0.0032	0.0029	0.0003	0	0.0040	0.0009	0	0.0075	0	0.0015	0.0038	0.0017	0.625	0.05229	T	0.575	0.08654	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	5.63	0.00800	T	0.16	0.05217	N	0.105	0.08925	-0.9263	0.44673	T	0.008	0.02638	T	9	0.0034832656	0.00062	T	5.65E-4	0.00221	T	0.009	0.00846	.	.	0.0138822411134	0.00435	.	.	.	.	0.44257286191	0.30929	T	.	.	.	-0.362653	0.03982	T	-0.758702	0.03159	T	0.000936598037175086	0.00009	T	0.117088	0.00899	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.05491	B	.;.	.;.	-0.654536	0.01430	0.085	0.42003831646120476	0.03067	0.00052	0.00397	N	AEFBI	0.032541	0.03697	N	-2.46002138049039	0.00020	0.0008536196	-2.52387715534705	0.00020	0.0008998555	0.999150149960223	0.38592	0.732398	0.92422	0	0.627608	0.54475	0	0.743671	0.96076	0	0.755437	0.99637	0	.	.	0.682	-1.36	0.08610	-3.613000	0.00464	.	.	-2.122000	0.00385	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.44:0.0:0.2484:0.3115	1.476	0.02279	987	0.02648	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	241.63	23	chr3	75783319	.	T	C	241.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.416;DP=195;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.51;ReadPosRankSum=-0.37;SOR=0.569	GT:AD:DP:GQ:PL	0/1:12,11:23:99:252,0,296	6	0	1	0
chr3	93900833	93900833	C	T	exonic	PROS1	.	nonsynonymous SNV	PROS1:NM_000313:exon7:c.G698A:p.R233K,PROS1:NM_001314077:exon8:c.G794A:p.R265K	Thrombophilia due to protein S deficiency, autosomal dominant, Autosomal dominant;Thrombophilia due to protein S deficiency, autosomal recessive, Autosomal recessive	79	1375	60	8	0	76	0.0268931	.	.	.	171093	Finnish_congenital_nephrotic_syndrome|Thrombophilia_due_to_protein_S_deficiency,_autosomal_recessive|Retinal_dystrophy|Thrombophilia_due_to_protein_S_deficiency,_autosomal_dominant|Protein_S_deficiency_disease|PROS1-related_disorder	MONDO:MONDO:0009732,MedGen:C0403399,OMIM:256300,Orphanet:839|MONDO:MONDO:0013791,MedGen:C3281092,OMIM:614514,Orphanet:743|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|MONDO:MONDO:0012868,MedGen:C3278211,OMIM:612336,Orphanet:26349,Orphanet:743|MONDO:MONDO:0002304,MeSH:D018455,MedGen:C0242666|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.502	.	0.0020	0.00698882	0.0074	0.0006	0.0032	0	0.0024	0.0037	0.0099	0.0351	0.0066105	1022	154602	rs41267007	0.0055	0.0055	0.0047	0.0064	0.0338	0.0054	0.0054	0.0328	0.0324	0.0004	0.0025	0.0016	5.039e-05	0.0023	0.0184	0.0040	0.0056	0.0338	0.0031	0.0031	0.0026	0.0035	0.0366	0.0028	0.0027	0.0322	0.0305	0.0006	0	0.0014	0.0003	0	0.0022	0	0.0032	0.0014	0.0366	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.480529	0.12171	N	0.758803	0.999972	0.18612	N	0.58	0.15352	N	-2.22	0.87038	D	0.13	0.05503	N	0.094	0.07398	-0.8327	0.53127	T	0.221	0.58434	T	10	0.0106553435	0.00236	T	.	.	.	0.502	0.78475	.	.	0.679094201566	0.67636	0.3702398663570681	0.36937	0.232416631394	0.25783	0.252426564693	0.04027	T	0.512652	0.82801	D	-0.266576	0.12141	T	-0.13132	0.60861	T	0.00268860779094126	0.00028	T	0.672333	0.34027	T	0.22805142	0.45518	0.050635796	0.07989	0.23177832	0.45955	0.044609684	0.05819	-3.187	0.12322	T	0.09818819590687654	0.06992	0.084	0.11172	B	.;.;.;.;.;.	.;.;.;.;.;.	0.873033	0.12461	8.992	0.72373484607788618	0.09951	0.09182	0.14989	N	AEFI	0.180271	0.30757	N	-0.987964775886933	0.08860	0.4170622	-0.855430635375312	0.13157	0.6810129	1.10828034484068E-5	0.01202	0.638212	0.43195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.668105	0.65232	0	.	.	4.08	-0.333	0.12042	-0.162000	0.10000	0.805000	0.21696	0.434000	0.20985	0.157000	0.23755	0.999000	0.35428	0.703000	0.34233	0.1717:0.3795:0.2108:0.238	1.258	0.01874	609	0.67094	EGF-like calcium-binding domain|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;.;EGF-like calcium-binding domain|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.013990	0.000000	0.012228	0.006849	0.000000	0.017241	0.006135	0.034091	0.07143	1362.53	108	chr3	93900833	.	C	T	1362.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.664;DP=282;ExcessHet=0;FS=0.722;MLEAC=1;MLEAF=0.071;MQ=59.6;MQRankSum=-1.072;QD=12.62;ReadPosRankSum=-0.521;SOR=0.799	GT:AD:DP:GQ:PL	0/1:47,61:108:99:1373,0,1027	6	0	1	0
chr3	98133456	98133460	ACCCC	-	exonic	OR5H1	.	frameshift deletion	OR5H1:NM_001005338:exon1:c.759_763del:p.P254Sfs*14	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.704e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	282.4	57	chr3	98133455	.	GACCCC	G	282.4	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.421;DP=401;ExcessHet=0.3476;FS=73.735;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=2.8;ReadPosRankSum=0.974;SOR=6.09	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:44,13:57:99:0|1:98133455_GACCCC_G:227,0,1731:98133455	5	0	2	0
chr3	98133456	98133460	ACCCC	0	exonic	OR5H1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	1231.26	57	chr3	98133456	.	ACCCC	*	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|1:44,13:57:99:0|1:98133455_GACCCC_G:227,0,1731:98133455	5	0	2	0
chr3	98133460	98133460	-	GGGGG	exonic	OR5H1	.	frameshift insertion	OR5H1:NM_001005338:exon1:c.763_764insGGGGG:p.L255Rfs*33	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	1231.31	57	chr3	98133460	.	C	CGGGGG	1231.31	.	AC=2;AF=0.25;AN=8;DP=408;ExcessHet=3.1439;FS=240.928;MLEAC=3;MLEAF=0.375;MQ=60;MQRankSum=0;QD=4.49;ReadPosRankSum=1.34;SOR=8.286	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:44,13:57:99:0|1:98133455_GACCCC_G:227,0,1731:98133455	2	0	2	3
chr3	98133463	98133463	C	G	exonic	OR5H1	.	nonsynonymous SNV	OR5H1:NM_001005338:exon1:c.C766G:p.L256V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00126498386421	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.43085	D	0.068	0.44106	T	0.005	0.12996	B	0.053	0.25678	B	0.261193	0.15311	N	0.542116	1	0.08975	N	0.915	0.23335	L	0.99	0.41750	T	-2.16	0.48850	N	0.126	0.11912	-1.0038	0.28814	T	0.079	0.31466	T	10	0.049896806	0.04644	T	0.001265	0.01708	T	0.026	0.05648	0.296	0.26041	0.128392430309	0.12331	0.03494044702375308	0.03441	0.301753269651	0.32506	0.278658390045	0.07306	T	0.006	0.05345	T	-0.262441	0.12617	T	-0.614755	0.11603	T	0.125886231660843	0.14996	T	0.469153	0.13854	T	0.1777599	0.38759	0.102822304	0.24655	0.1777599	0.38758	0.102822304	0.24654	-4.104	0.25349	T	.	.	0.129	0.31151	B	.;.	.;.	1.199857	0.15918	12.19	0.77165719573394564	0.11763	0.00876	0.03464	N	AEFI	0.031298	0.03314	N	-1.1071760963484	0.06514	0.3000934	-1.14194788532371	0.06913	0.3344078	1.71832632022719E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.57	0.621	0.16817	-1.594000	0.02198	.	.	0.385000	0.20450	0.000000	0.06391	0.000000	0.08366	0.108000	0.18652	0.1779:0.4335:0.1738:0.2148	1.131	0.01639	773	0.48803	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2143	1005.37	59	chr3	98133463	.	C	G	1005.37	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-3.869;DP=388;ExcessHet=1.1394;FS=181.558;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=5.29;ReadPosRankSum=1.84;SOR=7.743	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:46,13:59:99:0|1:98133455_GACCCC_G:221,0,1797:98133455	4	0	3	0
chr3	100775231	100775231	C	G	exonic	ABI3BP	.	nonsynonymous SNV	ABI3BP:NM_015429:exon27:c.G2284C:p.V762L,ABI3BP:NM_001349332:exon28:c.G2359C:p.V787L,ABI3BP:NM_001349331:exon35:c.G2746C:p.V916L,ABI3BP:NM_001365642:exon40:c.G3112C:p.V1038L,ABI3BP:NM_001377332:exon49:c.G3691C:p.V1231L,ABI3BP:NM_001349330:exon54:c.G4015C:p.V1339L,ABI3BP:NM_001349329:exon57:c.G4225C:p.V1409L,ABI3BP:NM_001375549:exon59:c.G4390C:p.V1464L,ABI3BP:NM_001375550:exon59:c.G4396C:p.V1466L,ABI3BP:NM_001375547:exon60:c.G4438C:p.V1480L	.	428	1053	38	3	0	44	0.0204651	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	.	0.0024	0.00778754	0.0058	0.0001	0.0038	0.0001	0.0002	0.0030	0.0053	0.0282	0.0045924	710	154602	rs141302553	0.0036	0.0037	0.0030	0.0043	0.0235	0.0036	0.0035	0.0227	0.0223	0.0005	0.0031	0.0007	0	0.0003	0.0147	0.0025	0.0037	0.0235	0.0026	0.0026	0.0023	0.0029	0.0243	0.0024	0.0023	0.0207	0.0194	0.0004	0	0.0027	0.0003	0	0.0002	0.0068	0.0030	0.0038	0.0243	0.052	0.39097	T	0.242	0.24264	T	0.575	0.38708	P	0.17	0.35299	B	0.254282	0.15444	N	0.663319	0.999809	0.20292	N	1.01	0.25309	L	2.3	0.22067	T	-1.15	0.29525	N	0.183	0.19861	-1.0594	0.11905	T	0.023	0.09832	T	10	0.003952503	0.00076	T	.	.	.	0.015	0.02232	.	.	0.527759996296	0.52422	0.28051411292793593	0.27964	0.0954240108754	0.10779	0.301007211208	0.10550	T	0.018758	0.26335	T	-0.544653	0.00314	T	-0.536879	0.18604	T	0.0113682145057753	0.00169	T	0.855414	0.54290	D	0.087015405	0.20245	0.07827063	0.17516	0.087015405	0.20245	0.07827063	0.17516	.	.	.	.	.	0.166	0.36515	B	.;.;.	.;.;.	1.770697	0.22515	15.65	0.98556643482280593	0.42922	0.60854	0.31315	D	AEFBI	0.218867	0.34383	N	-0.345431351367633	0.27441	1.505536	-0.236779375550058	0.30228	1.700263	0.993254032926957	0.33144	0.732398	0.92422	0	0.573888	0.26702	0	0.547309	0.15389	0	0.727631	0.95156	0	.	.	5.0	4.13	0.47661	1.054000	0.30064	1.754000	0.28498	0.549000	0.26987	0.504000	0.26986	0.003000	0.18671	0.502000	0.29062	0.0:0.9006:0.0:0.0994	9.451	0.37891	722	0.55239	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010111	0.000000	0.002717	0.005848	0.000000	0.000000	0.018405	0.034351	0.08333	273.27	40	chr3	100775231	.	C	G	273.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.68;DP=201;ExcessHet=0;FS=1.258;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=6.83;ReadPosRankSum=1.51;SOR=0.469	GT:AD:DP:GQ:PL	0/1:25,15:40:99:283,0,566	5	0	1	1
chr3	100775333	100775333	T	C	exonic	ABI3BP	.	nonsynonymous SNV	ABI3BP:NM_015429:exon27:c.A2182G:p.I728V,ABI3BP:NM_001349332:exon28:c.A2257G:p.I753V,ABI3BP:NM_001349331:exon35:c.A2644G:p.I882V,ABI3BP:NM_001365642:exon40:c.A3010G:p.I1004V,ABI3BP:NM_001377332:exon49:c.A3589G:p.I1197V,ABI3BP:NM_001349330:exon54:c.A3913G:p.I1305V,ABI3BP:NM_001349329:exon57:c.A4123G:p.I1375V,ABI3BP:NM_001375549:exon59:c.A4288G:p.I1430V,ABI3BP:NM_001375550:exon59:c.A4294G:p.I1432V,ABI3BP:NM_001375547:exon60:c.A4336G:p.I1446V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.0042577872272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.40832	T	0.851	0.17064	T	0.11	0.26188	B	0.064	0.27215	B	0.129979	0.18676	N	0.542434	0.998149	0.23853	N	2.245	0.63543	M	2.23	0.22881	T	-0.36	0.13035	N	0.238	0.26837	-0.9907	0.32424	T	0.069	0.28113	T	10	0.1329661	0.25307	T	0.004258	0.10310	T	0.028	0.06331	0.178	0.08503	0.536287059136	0.53279	0.1284411164199673	0.12769	0.081923470924	0.09225	0.37267062068	0.21215	T	0.013394	0.13935	T	-0.217609	0.18322	T	-0.550357	0.17292	T	0.24375493824482	0.22591	T	0.640436	0.25296	T	0.023745567	0.01140	0.03538561	0.02781	0.023745567	0.01140	0.03538561	0.02780	.	.	.	.	.	0.112	0.22024	B	.;.;.	.;.;.	1.023665	0.14032	10.60	0.62105742636814754	0.06878	0.33788	0.24913	N	AEFDBIJ	0.088700	0.17982	N	-0.138409453698759	0.35730	2.055995	-0.25515300555331	0.29594	1.659267	0.971890519317384	0.29325	0.732398	0.92422	0	0.573888	0.26702	0	0.547309	0.15389	0	0.727631	0.95156	0	.	.	4.68	-1.84	0.07387	-0.061000	0.11650	0.266000	0.16602	-0.194000	0.09177	0.988000	0.36536	0.994000	0.32194	0.924000	0.46004	0.0:0.5259:0.0:0.4741	9.015	0.35326	722	0.55239	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	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|1:10,11:21:99:0|1:100775333_T_C:233,0,144:100775333	2	0	4	1
chr3	108560717	108560717	G	C	exonic	CIP2A	.	nonsynonymous SNV	CIP2A:NM_020890:exon14:c.C1759G:p.H587D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.127	0.00365179683671	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.34800	T	0.623	0.07368	T	0.003	0.11197	B	0.018	0.18489	B	0.209450	0.03376	N	1.505420	0.984643	0.24782	N	1.1	0.28011	L	3.2	0.08898	T	-0.78	0.21644	N	0.197	0.24010	-0.9510	0.40799	T	0.021	0.08824	T	10	0.122960925	0.23335	T	0.003652	0.08402	T	0.127	0.34888	0.242	0.17524	0.477065420593	0.47334	0.23806721272857817	0.23720	0.206973944305	0.23137	0.224730163813	0.01601	T	0.003415	0.13134	T	-0.20199	0.20518	T	-0.527921	0.19495	T	0.307147085666656	0.25297	T	0.194581	0.02117	T	0.06891671	0.15055	0.07576891	0.16716	0.06891671	0.15055	0.07576891	0.16716	-2.671	0.07062	T	.	.	0.081	0.11124	B	.;.;.	.;.;.	1.099696	0.14838	11.37	0.97004606632996049	0.31957	0.90066	0.50957	D	AEFBI	0.230996	0.35430	N	-0.226149591363309	0.32064	1.804339	-0.00686693426518045	0.39405	2.335817	0.999994809545068	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.608884	0.39905	0	0.727631	0.95156	0	.	.	5.92	5.92	0.95557	3.050000	0.49568	9.874000	0.82149	0.676000	0.76740	0.994000	0.38300	1.000000	0.68203	0.803000	0.37862	0.1093:0.0:0.8907:0.0	11.254	0.48273	797	0.45241	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	211.83	38	chr3	108560717	.	G	C	211.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.512;DP=208;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.57;ReadPosRankSum=0.447;SOR=0.774	GT:AD:DP:GQ:PL	0/1:25,13:38:99:222,0,609	6	0	1	0
chr3	111991600	111991600	C	G	exonic	ABHD10	.	nonsynonymous SNV	ABHD10:NM_018394:exon5:c.C800G:p.T267R	.	434	1086	2	0	0	2	0.000919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.0102206752445	7.7e-05	.	1.648e-05	0	0	0	0	1.498e-05	0	6.056e-05	1.29e-05	2	154602	rs373336234	7.525e-06	7.524e-06	5.445e-06	9.626e-06	0.0002	4.04e-06	2.95e-06	3.85e-06	1.68e-06	0	0	0	0	0	0.0002	6.295e-06	1.656e-05	2.319e-05	6.572e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.489	0.08018	T	0.439	0.13365	T	0.714	0.42167	P	0.173	0.35463	B	0.842043	0.07005	N	1.070970	1	0.08975	N	0.975	0.24501	L	1.01	0.41058	T	-1.15	0.29525	N	0.067	0.03956	-1.0474	0.15130	T	0.057	0.24092	T	10	0.04930207	0.04501	T	0.010221	0.26500	T	0.054	0.15330	.	.	0.366466682447	0.36252	0.4975583955896555	0.49676	0.173717652591	0.19556	0.265388727188	0.05549	T	0.005308	0.04761	T	-0.372116	0.03488	T	-0.590767	0.13599	T	0.0626631144911207	0.07582	T	0.764624	0.39166	T	0.06198172	0.12897	0.069963835	0.14807	0.06198172	0.12897	0.069963835	0.14807	-8.85	0.66726	D	.	.	0.074	0.05060	B	.	.	0.362184	0.07350	3.966	0.93111307890102302	0.22744	0.13845	0.18083	N	AEFGBI	0.136260	0.25686	N	-0.961836081929662	0.09428	0.4461753	-0.995165581765022	0.09892	0.494908	0.483485473707484	0.20805	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.83	-2.48	0.06052	-0.219000	0.09233	-1.033000	0.06541	-0.306000	0.06133	0.003000	0.16062	0.000000	0.08366	0.957000	0.51019	0.6712:0.2349:0.0939:0.0	14.659	0.68464	585	0.69300	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1421.44	151	chr3	111991600	.	C	G	1421.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.562;DP=362;ExcessHet=0;FS=1.327;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.41;ReadPosRankSum=0.66;SOR=0.859	GT:AD:DP:GQ:PL	0/1:91,60:151:99:1432,0,2349	6	0	1	0
chr3	120776506	120776506	C	T	exonic	GTF2E1	.	nonsynonymous SNV	GTF2E1:NM_005513:exon4:c.C734T:p.S245F	.	428	1086	8	0	0	8	0.00366972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	.	0.0072	0.00219649	0.0067	0.0013	0.0022	0	0.0098	0.0101	0.0055	0.0019	0.006921	1070	154602	rs116139067	0.0100	0.0100	0.0102	0.0098	0.0118	0.0099	0.0098	0.0116	0.0115	0.0016	0.0027	0.0008	0	0.0119	0.0010	0.0118	0.0090	0.0019	0.0075	0.0075	0.0083	0.0066	0.0110	0.0071	0.0070	0.0103	0.0101	0.0024	0.1184	0.0033	0.0006	0	0.0102	0.0034	0.0110	0.0047	0.0019	0.012	0.54683	D	0.008	0.67890	D	0.736	0.42845	P	0.429	0.45365	B	0.000033	0.55875	D	0.164694	1	0.81001	D	2.085	0.57729	M	0.79	0.49068	T	-2.19	0.52128	N	0.55	0.57604	-0.8166	0.54146	T	0.149	0.47522	T	10	0.005297661	0.00116	T	.	.	.	0.113	0.31778	.	.	0.216943180021	0.21308	0.44651597372519675	0.44569	0.76196104071	0.64307	0.561044573784	0.47416	T	0.078052	0.35799	T	-0.417127	0.01785	T	-0.359626	0.38096	T	0.033851293804235	0.02613	T	0.915408	0.69775	D	0.34187558	0.56428	0.31699908	0.57677	0.34187558	0.56428	0.31699908	0.57676	-6.626	0.51251	T	.	.	0.219	0.45099	B	.;.	.;.	4.407686	0.68162	25.2	0.99680761616959124	0.79241	0.99386	0.95357	D	AEFBI	0.849572	0.76639	D	0.526325190968093	0.68652	5.246726	0.578485578349535	0.73400	5.964247	0.999999999998566	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.38	5.38	0.77279	7.456000	0.79796	5.939000	0.51448	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:1.0:0.0:0.0	18.105	0.89446	317	0.87119	.;.	.	.	.	.	rs116139067	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.050000	0.008621	0.000000	0.000000	0.07143	720.44	49	chr3	120776506	.	C	T	720.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.888;DP=227;ExcessHet=0;FS=1.142;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.7;ReadPosRankSum=-0.79;SOR=0.941	GT:AD:DP:GQ:PL	0/1:19,30:49:99:731,0,430	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	0/1:22,10:32:78:.:.:78,0,431:.	1	0	6	0
chr3	128264663	128264663	C	T	exonic	EEFSEC	.	nonsynonymous SNV	EEFSEC:NM_021937:exon4:c.C668T:p.P223L	.	422	1059	41	0	0	41	0.0189903	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.198	.	0.0004	0.00219649	0.0020	0.0002	0.0016	0	0.0020	0.0007	0.0055	0.0094	0.0017205	266	154602	rs142548867	0.0011	0.0011	0.0008	0.0014	0.0220	0.0010	0.0010	0.0189	0.0177	0.0002	0.0011	0.0003	0.0001	0.0017	0.0220	0.0003	0.0016	0.0101	0.0008	0.0008	0.0007	0.0010	0.0115	0.0007	0.0007	0.0090	0.0082	0.0001	0	0.0007	0	0	0.0013	0.0102	0.0005	0.0024	0.0115	0.008	0.58626	D	0.017	0.60337	D	0.969	0.56768	D	0.474	0.46883	P	0.000260	0.46924	D	0.223006	0.999902	0.81001	D	2.24	0.63355	M	0.75	0.50192	T	-6.54	0.91786	D	0.441	0.47949	-0.8253	0.53600	T	0.154	0.48464	T	10	0.01511088	0.00317	T	.	.	.	0.198	0.48105	.	.	0.69078259148	0.68812	0.4082079854758552	0.40736	0.407012530583	0.41570	0.438673913479	0.30395	T	0.469336	0.80291	T	-0.445083	0.01207	T	-0.404431	0.32870	T	0.100143069804293	0.12373	T	.	.	.	0.55592567	0.70284	0.27926272	0.53893	0.55592567	0.70286	0.27926272	0.53892	-10.686	0.77907	D	.	.	0.126	0.26794	B	.	.	5.229074	0.87771	29.4	0.99511165797480594	0.68618	0.89978	0.50805	D	AEFDBI	0.366235	0.45412	N	0.185205174866161	0.50490	3.238374	0.164767691787827	0.47928	3.015957	0.999442695620509	0.39736	0.706298	0.61202	0	0.724815	0.89359	0	0.80507	0.99327	0	0.613276	0.41899	0	.	.	5.08	4.21	0.48984	4.245000	0.58529	7.652000	0.63756	0.549000	0.26987	0.970000	0.34288	1.000000	0.68203	0.864000	0.41028	0.1475:0.7764:0.0:0.0761	9.689	0.39283	824	0.40336	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.016113	0.000000	0.014946	0.046784	0.050000	0.008621	0.003049	0.011364	0.07143	1049.44	120	chr3	128264663	.	C	T	1049.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.4;DP=341;ExcessHet=0;FS=1.492;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.75;ReadPosRankSum=-1.364;SOR=0.898	GT:AD:DP:GQ:PL	0/1:72,48:120:99:1060,0,1725	6	0	1	0
chr3	129977050	129977050	C	T	exonic	TRH	.	nonsynonymous SNV	TRH:NM_007117:exon3:c.C563T:p.P188L	Thyrotropin-releasing hormone deficiency, Autosomal recessive	8	1512	2	0	0	2	0.000660939	.	.	.	697831	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.622	.	0.0032	0.00439297	0.0025	0.0095	0.0027	0	0	0.0025	0.0069	6.417e-05	0.0023092	357	154602	rs35004321	0.0015	0.0015	0.0016	0.0015	0.0082	0.0015	0.0015	0.0074	0.0071	0.0082	0.0044	0.0235	5.049e-05	0	0.0054	0.0008	0.0034	0.0001	0.0040	0.0040	0.0036	0.0044	0.0078	0.0037	0.0036	0.0071	0.0068	0.0078	0	0.0076	0.0190	0.0002	0	0.0136	0.0012	0.0061	0.0002	0.0	0.91255	D	0.041	0.51421	D	1.0	0.90584	D	0.999	0.92359	D	0.000048	0.53742	D	0.164275	1	0.81001	D	3.005	0.85968	M	-0.54	0.70950	T	-8.86	0.97876	D	0.565	0.60918	0.013	0.82519	D	0.446	0.78209	T	10	0.019107252	0.00423	T	.	.	.	0.622	0.85354	.	.	0.931523353407	0.93081	0.26309343759805837	0.26222	0.465052223951	0.45958	0.619675397873	0.55684	T	0.625137	0.88307	D	-0.0592499	0.43025	T	0.148371	0.80082	D	0.0857328738770689	0.10703	T	0.866813	0.57326	D	0.81398124	0.84817	0.6728747	0.80800	0.81398124	0.84819	0.6728747	0.80801	-13.267	0.90432	D	.	.	0.352	0.57859	A	.;.	.;.	3.976380	0.58419	24.0	0.99625258316171317	0.75655	0.84527	0.43609	D	AEFDBI	0.091075	0.18451	N	0.277386259673135	0.55005	3.664867	0.147609374672997	0.47015	2.938245	0.974099915885111	0.29512	0.582742	0.33608	0	0.563428	0.19063	0	0.61531	0.40942	0	0.530356	0.10902	0	.	.	4.65	3.76	0.42368	2.387000	0.44043	5.479000	0.48717	0.599000	0.40250	0.966000	0.33990	1.000000	0.68203	0.059000	0.15899	0.1916:0.8084:0.0:0.0	10.703	0.45131	849	0.35778	.;.	.	.	.	.	.	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	0.010585	0.035354	0.012228	0.008772	0.000000	0.000000	0.003049	0.000000	0.07143	581.46	44	chr3	129977050	.	C	T	581.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.2;DP=301;ExcessHet=0;FS=2.623;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.22;ReadPosRankSum=1.94;SOR=0.794	GT:AD:DP:GQ:PL	0/1:21,23:44:99:592,0,461	6	0	1	0
chr3	132494190	132494190	A	G	exonic	DNAJC13	.	nonsynonymous SNV	DNAJC13:NM_015268:exon34:c.A3872G:p.E1291G,DNAJC13:NM_001329126:exon35:c.A3887G:p.E1296G	.	430	1070	21	1	0	23	0.0106334	.	.	.	720180	Parkinson_disease_21|not_provided	MONDO:MONDO:0014604,MedGen:C4225353,OMIM:616361,Orphanet:411602|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.467	.	0.0038	0.00299521	0.0044	0.0013	0.0063	0	0.0014	0.0046	0.0066	0.0078	0.0044566	689	154602	rs61748101	0.0065	0.0065	0.0066	0.0064	0.0082	0.0064	0.0063	0.0077	0.0075	0.0010	0.0067	0.0010	5.045e-05	0.0013	0.0049	0.0071	0.0063	0.0082	0.0041	0.0041	0.0044	0.0038	0.0087	0.0039	0.0038	0.0066	0.0059	0.0011	0.0077	0.0062	0.0012	0	0.0008	0.0034	0.0061	0.0043	0.0087	0.003	0.68238	D	0.006	0.70582	D	0.995	0.67487	D	0.82	0.59072	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.52	0.73523	M	2.1	0.19990	T	-5.5	0.85844	D	0.878	0.87590	-0.9433	0.42089	T	0.097	0.36341	T	10	0.013666481	0.00289	T	.	.	.	0.467	0.76222	.	.	0.291402777868	0.28757	0.5699067835922972	0.56918	0.755799452961	0.64005	0.63191485405	0.57417	T	0.200838	0.55854	T	-0.211266	0.19200	T	-0.0711188	0.65546	T	0.0250800666739521	0.01283	T	0.913609	0.69252	D	0.6349251	0.74561	0.7283635	0.83951	0.6349251	0.74562	0.7283635	0.83952	-12.912	0.88997	D	.	.	0.455	0.62450	A	.	.	4.865826	0.79668	27.2	0.99933466210288779	0.99488	0.98914	0.88555	D	AEFBI	0.882978	0.81153	D	0.783870060892164	0.85085	8.472609	0.76754464561343	0.87461	9.230196	0.999999990148181	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.741806	0.99463	0	.	.	5.64	5.64	0.86480	9.063000	0.93355	9.394000	0.80599	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.859	0.78786	819	0.41190	.	.	.	.	.	.	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	0.005539	0.005051	0.006793	0.000000	0.000000	0.008621	0.006098	0.003788	0.07143	451.49	48	chr3	132494190	.	A	G	451.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.733;DP=217;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.41;ReadPosRankSum=-0.676;SOR=0.611	GT:AD:DP:GQ:PL	0/1:27,21:48:99:462,0,606	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	0/1:41,11:52:5:.:.:5,0,852:.	3	0	4	0
chr3	138472657	138472657	A	T	exonic	ESYT3	.	nonsynonymous SNV	ESYT3:NM_001322831:exon18:c.A2035T:p.I679F,ESYT3:NM_001322834:exon18:c.A2035T:p.I679F,ESYT3:NM_031913:exon18:c.A2035T:p.I679F	.	413	1107	2	0	0	2	0.000902527	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00270054237325	.	0.000998403	0.0002	0	8.639e-05	0.0016	0	4.495e-05	0.0011	0.0004	0.000194	30	154602	rs188083876	0.0002	0.0002	0.0002	0.0002	0.0044	0.0002	0.0002	0.0038	0.0036	0	0	3.826e-05	0.0044	0	0.0003	2.968e-05	0.0002	0.0006	0.0001	0.0001	5.138e-05	0.0002	0.0031	8.657e-05	7.25e-05	0.0019	0.0016	0	0	0.0001	0	0.0031	0	0	1.47e-05	0	0.0002	0.688	0.04328	T	0.112	0.37037	T	0.0	0.02946	B	0.0	0.01387	B	0.007116	0.01155	N	3.008430	1	0.08975	N	0	0.06538	N	1.23	0.36872	T	-0.6	0.17834	N	0.096	0.07673	-1.0252	0.22017	T	0.032	0.13679	T	10	0.004386395	0.00089	T	0.002701	0.05550	T	0.024	0.04979	.	.	0.0401082797425	0.02173	0.1650306999048394	0.16423	0.228960570762	0.25452	0.23677431047	0.02507	T	0.001266	0.00750	T	-0.60399	0.00138	T	-0.6809	0.06928	T	0.00264333082073668	0.00028	T	0.29727	0.05521	T	0.026228257	0.01653	0.037574857	0.03437	0.026228257	0.01653	0.037574857	0.03437	-3.767	0.20312	T	.	.	0.074	0.05017	B	.	.	-0.441062	0.02063	0.189	0.50930278662529926	0.04471	0.01661	0.05324	N	AEFDBI	0.057867	0.10813	N	-1.24577339115428	0.04356	0.1964209	-1.21494148751269	0.05670	0.270779	0.9999857133843	0.51787	0.713056	0.82018	0	0.59043	0.45803	0	0.608524	0.38960	0	0.631631	0.49550	0	.	.	4.97	-3.05	0.05069	-1.530000	0.02325	-2.265000	0.03977	-0.548000	0.04911	0.000000	0.06391	0.000000	0.08366	0.902000	0.43815	0.2054:0.5677:0.2269:0.0	9.767	0.39735	355	0.85216	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1666.44	143	chr3	138472657	.	A	T	1666.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.94;DP=358;ExcessHet=0;FS=6.138;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.65;ReadPosRankSum=-0.839;SOR=1.111	GT:AD:DP:GQ:PL	0/1:79,64:143:99:1677,0,1915	6	0	1	0
chr3	138622357	138622357	C	A	exonic	FAIM	.	stopgain	FAIM:NM_001033032:exon3:c.C281A:p.S94X,FAIM:NM_018147:exon3:c.C281A:p.S94X,FAIM:NM_001033030:exon4:c.C383A:p.S128X,FAIM:NM_001033031:exon4:c.C347A:p.S116X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.241e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs767586049	1.369e-06	1.368e-06	0	2.752e-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	6.603e-06	6.582e-06	0	1.354e-05	6.572e-05	0	0	.	.	0	0	6.572e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000003	0.62929	D	0.062804	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.919	0.92200	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.607496	0.97860	D	0.634849	0.97827	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;.;.;.;.	High;.;.;.;.;.	7.912520	0.96985	36	0.99629626964749463	0.75959	0.97493	0.75105	D	AEFBI	0.081701	0.16535	N	0.806288217135055	0.86499	8.904799	0.683069737907133	0.81092	7.446979	0.999925641727273	0.46280	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.82	4.95	0.64894	5.058000	0.64127	2.099000	0.30593	0.599000	0.40250	1.000000	0.71638	0.971000	0.29754	0.997000	0.79791	0.0:0.9209:0.0:0.0791	12.813	0.57030	778	0.48011	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	332.27	31	chr3	138622357	.	C	A	332.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.813;DP=180;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.72;ReadPosRankSum=2.25;SOR=0.804	GT:AD:DP:GQ:PL	0/1:14,17:31:99:342,0,287	5	0	1	1
chr3	149527888	149527888	T	A	exonic	WWTR1	.	nonsynonymous SNV	WWTR1:NM_001168280:exon5:c.A853T:p.T285S,WWTR1:NM_015472:exon5:c.A853T:p.T285S,WWTR1:NM_001168278:exon6:c.A853T:p.T285S,WWTR1:NM_001348362:exon8:c.A853T:p.T285S	.	427	1016	74	5	0	84	0.0396975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	.	0.0048	0.0195687	0.0145	0.0044	0.0047	0.0013	0.0020	0.0079	0.0088	0.0668	0.0130529	2018	154602	rs28763914	0.0095	0.0095	0.0078	0.0113	0.0648	0.0094	0.0093	0.0633	0.0628	0.0043	0.0057	0.0320	0.0009	0.0018	0.0288	0.0055	0.0118	0.0648	0.0082	0.0083	0.0070	0.0095	0.0685	0.0079	0.0077	0.0624	0.0600	0.0045	0	0.0105	0.0334	0.0012	0.0009	0.0340	0.0061	0.0099	0.0685	1.0	0.00964	T	1.0	0.03945	T	0.0	0.02946	B	0.001	0.04355	B	0.189626	0.16881	N	0.622461	0.945773	0.26651	N	0.405	0.12330	N	1.05	0.39990	T	0.6	0.02853	N	0.277	0.32481	-1.0210	0.23389	T	0.025	0.10866	T	10	0.0015960932	0.00018	T	.	.	.	0.114	0.32008	0.065	0.00293	.	.	0.290718380610075	0.28984	0.42995996695	0.43261	0.481068134308	0.36204	T	0.214331	0.57588	T	-0.644689	0.00078	T	-0.650148	0.08944	T	0.0179148183194432	0.00518	T	0.476852	0.14330	T	0.07942054	0.18144	0.04499123	0.05953	0.07942054	0.18143	0.04499123	0.05953	-4.436	0.30042	T	0.1702844105836142	0.21400	0.074	0.10545	B	.;.;.;.	.;.;.;.	2.307038	0.29529	18.15	0.87434686040373133	0.17225	0.89995	0.50835	D	ALL	0.790365	0.71928	D	-0.400604213907978	0.25447	1.381	-0.180672069225818	0.32247	1.832765	0.999999999898381	0.74766	0.758104	0.99027	0	0.588066	0.40923	0	0.691618	0.62860	0	0.648885	0.59868	0	.	.	5.09	3.92	0.44525	2.685000	0.46626	3.438000	0.38361	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0762:0.1435:0.7804	7.488	0.26617	695	0.58372	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.019134	0.000000	0.012228	0.029240	0.000000	0.000000	0.015244	0.041667	0.07143	251.83	30	chr3	149527888	.	T	A	251.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.025;DP=187;ExcessHet=0;FS=1.484;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.39;ReadPosRankSum=-0.127;SOR=0.368	GT:AD:DP:GQ:PL	0/1:18,12:30:99:262,0,448	6	0	1	0
chr3	151447453	151447453	G	C	exonic	IGSF10	.	nonsynonymous SNV	IGSF10:NM_001385061:exon5:c.C2528G:p.S843C,IGSF10:NM_001385060:exon6:c.C2528G:p.S843C,IGSF10:NM_178822:exon6:c.C2528G:p.S843C,IGSF10:NM_001385062:exon7:c.C2528G:p.S843C,IGSF10:NM_001385063:exon7:c.C2528G:p.S843C	.	430	1083	9	0	0	9	0.00413793	.	.	.	1602058	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.174	0.0323434893407	0.0009	0.000399361	0.0012	0	0.0008	0	0.0024	0.0011	0.0033	0.0022	0.0010673	165	154602	rs142202060	0.0014	0.0014	0.0013	0.0015	0.0025	0.0013	0.0013	0.0022	0.0021	0.0002	0.0008	0	7.557e-05	0.0019	0.0014	0.0014	0.0011	0.0025	0.0012	0.0012	0.0012	0.0012	0.0018	0.0011	0.0010	0.0016	0.0015	0.0002	0	0.0014	0	0	0.0020	0.0034	0.0018	0.0009	0.0010	0.005	0.63226	D	0.043	0.49942	D	0.994	0.66517	D	0.667	0.53020	P	0.060946	0.22209	N	0.325505	1	0.08975	N	1.1	0.28011	L	-0.4	0.69287	T	-2.82	0.59545	D	0.363	0.40465	-0.9698	0.37242	T	0.163	0.49897	T	10	0.020431757	0.00471	T	0.032343	0.54198	D	0.174	0.44019	.	.	0.708633667434	0.70609	0.1375110502223292	0.13675	0.15508453664	0.17514	0.280481725931	0.07559	T	0.012067	0.10668	T	-0.372885	0.03451	T	-0.314257	0.43199	T	0.0339348243345921	0.02626	T	0.446155	0.12501	T	0.1270791	0.29748	0.12274849	0.29606	0.1270791	0.29747	0.12274849	0.29606	-8.749	0.66067	D	.	.	0.130	0.27998	B	.	.	2.701816	0.35291	19.86	0.97995658646431738	0.37438	0.32221	0.24532	N	AEFBI	0.211266	0.33707	N	-0.339149814708689	0.27672	1.52018	-0.424555262797439	0.24279	1.328647	0.942996863909291	0.27548	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.31	3.16	0.35406	0.477000	0.21906	3.767000	0.39740	0.618000	0.50648	0.028000	0.20300	1.000000	0.68203	0.182000	0.21359	0.3427:0.0:0.6573:0.0	6.957	0.23754	813	0.42397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004028	0.005051	0.001359	0.000000	0.000000	0.008621	0.000000	0.015152	0.07143	1793.49	126	chr3	151447453	.	G	C	1793.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.234;DP=376;ExcessHet=0;FS=0.674;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.23;ReadPosRankSum=0.052;SOR=0.578	GT:AD:DP:GQ:PL	0/1:53,73:126:99:1804,0,1453	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|1:42,16:58:65:0|1:155853644_G_C:65,0,1324:155853644	5	0	2	0
chr3	165188250	165188250	G	A	exonic	SLITRK3	.	nonsynonymous SNV	SLITRK3:NM_001318810:exon2:c.C2581T:p.R861C,SLITRK3:NM_001318811:exon2:c.C2581T:p.R861C,SLITRK3:NM_014926:exon2:c.C2581T:p.R861C	.	434	1075	10	3	0	16	0.00738689	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	0.0159597476729	0.0028	0.000998403	0.0031	0.0005	0.0032	0	0.0005	0.0045	0.0044	0.0012	0.0029495	456	154602	rs73165236	0.0033	0.0033	0.0033	0.0033	0.0177	0.0032	0.0032	0.0149	0.0139	0.0006	0.0050	0.0114	2.519e-05	0.0009	0.0177	0.0034	0.0037	0.0015	0.0029	0.0029	0.0028	0.0030	0.0088	0.0027	0.0026	0.0076	0.0072	0.0005	0	0.0088	0.0101	0	0.0006	0.0204	0.0032	0.0057	0.0010	0.006	0.61437	D	0.071	0.43531	T	0.857	0.47240	P	0.249	0.38982	B	0.003377	0.35041	N	0.000000	0.999952	0.52396	D	0.345	0.11182	N	-0.01	0.62762	T	-0.87	0.23590	N	0.553	0.61341	-0.8436	0.52406	T	0.136	0.45087	T	10	0.005740285	0.00128	T	0.01596	0.36975	T	0.225	0.52323	.	.	0.328504224676	0.32467	0.25901232267968466	0.25815	0.453547560882	0.45046	0.490606665611	0.37522	T	0.019431	0.15482	T	-0.217842	0.18288	T	-0.084462	0.64577	T	0.0254024918408045	0.01326	T	0.843016	0.51993	T	0.12987834	0.30322	0.073567376	0.16001	0.12987834	0.30322	0.073567376	0.16001	-4.359	0.28996	T	.	.	0.138	0.35992	B	.;.	.;.	3.866062	0.56101	23.7	0.99592681987886977	0.73690	0.98362	0.82008	D	AEFBI	0.863619	0.78220	D	0.407196782319659	0.61818	4.388081	0.536924783923325	0.70493	5.513358	0.999956883348039	0.48110	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.75	5.75	0.90390	8.191000	0.89681	11.806000	0.96793	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0785:0.0:0.9215:0.0	12.781	0.56855	901	0.24189	.;.	.	.	.	.	.	Likely benign	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	0.015609	0.005051	0.019022	0.023392	0.000000	0.034483	0.006098	0.011364	0.07143	934.63	88	chr3	165188250	.	G	A	934.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.709;DP=283;ExcessHet=0;FS=1.736;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.62;ReadPosRankSum=-0.318;SOR=0.92	GT:AD:DP:GQ:PL	0/1:47,41:88:99:945,0,1064	6	0	1	0
chr3	179401278	179401278	C	T	exonic	GNB4	.	nonsynonymous SNV	GNB4:NM_021629:exon10:c.G958A:p.V320I	Charcot-Marie-Tooth disease, dominant intermediate F, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	393372	Charcot-Marie-Tooth_disease_dominant_intermediate_F|not_provided	MONDO:MONDO:0014074,MedGen:C4749463,OMIM:615185,Orphanet:352670|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.039	.	0.0025	0.000798722	0.0044	0.0002	0.0009	0	0.0234	0.0053	0.0055	0.0009	0.0039003	603	154602	rs61750380	0.0030	0.0031	0.0030	0.0031	0.0028	0.0030	0.0029	0.0027	0.0027	0.0002	0.0007	0.0011	0	0.0204	0.0002	0.0028	0.0022	0.0008	0.0034	0.0034	0.0028	0.0041	0.0041	0.0032	0.0031	0.0037	0.0036	0.0003	0	0.0004	0.0014	0.0004	0.0196	0	0.0041	0.0019	0.0008	0.038	0.42783	D	0.055	0.46862	T	0.068	0.23728	B	0.07	0.27859	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.23	0.09627	N	0.29	0.58897	T	-0.9	0.24244	N	0.126	0.11912	-0.9106	0.46781	T	0.153	0.48326	T	10	0.008676469	0.00196	T	.	.	.	0.039	0.10176	.	.	0.368394457434	0.36455	0.2843829060369544	0.28351	0.514025229606	0.49365	0.707132101059	0.68177	T	0.072636	0.34502	T	-0.399893	0.02318	T	-0.339804	0.40367	T	0.0214060337838976	0.00843	T	0.911209	0.68535	D	0.12981378	0.30308	0.09047445	0.21218	0.13585633	0.31516	0.10776861	0.25950	-7.283	0.56074	T	0.18583022256871345	0.24162	0.094	0.14293	B	.;.	.;.	3.399609	0.47106	22.4	0.99559845090233978	0.71707	0.94946	0.62882	D	AEFBI	0.549255	0.56221	D	-0.0679206985782367	0.38806	2.278519	0.0728004342283706	0.43187	2.625648	0.999919925130517	0.45857	0.732398	0.92422	0	0.601575	0.49859	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	4.92	4.04	0.46262	4.932000	0.63178	3.358000	0.37837	-0.176000	0.10722	1.000000	0.71638	0.998000	0.33993	0.863000	0.40966	0.0:0.9235:0.0:0.0765	13.411	0.60391	792	0.45996	WD40-repeat-containing domain;WD40-repeat-containing domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	420.63	35	chr3	179401278	.	C	T	420.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.414;DP=193;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.02;ReadPosRankSum=2.2;SOR=0.593	GT:AD:DP:GQ:PL	0/1:17,18:35:99:431,0,380	6	0	1	0
chr3	179808316	179808316	T	C	exonic	PEX5L	.	nonsynonymous SNV	PEX5L:NM_001349404:exon9:c.A898G:p.R300G,PEX5L:NM_001349401:exon10:c.A898G:p.R300G,PEX5L:NM_001256753:exon11:c.A1297G:p.R433G,PEX5L:NM_001349397:exon11:c.A1246G:p.R416G,PEX5L:NM_001349398:exon11:c.A1207G:p.R403G,PEX5L:NM_001349399:exon11:c.A898G:p.R300G,PEX5L:NM_001349410:exon11:c.A898G:p.R300G,PEX5L:NM_001256751:exon12:c.A1402G:p.R468G,PEX5L:NM_001256752:exon12:c.A1369G:p.R457G,PEX5L:NM_001256755:exon12:c.A1150G:p.R384G,PEX5L:NM_001256756:exon12:c.A898G:p.R300G,PEX5L:NM_001349392:exon12:c.A1441G:p.R481G,PEX5L:NM_001349396:exon12:c.A1273G:p.R425G,PEX5L:NM_001349406:exon12:c.A898G:p.R300G,PEX5L:NM_001349409:exon12:c.A898G:p.R300G,PEX5L:NM_001256750:exon13:c.A1468G:p.R490G,PEX5L:NM_001256754:exon13:c.A1345G:p.R449G,PEX5L:NM_001349388:exon13:c.A1546G:p.R516G,PEX5L:NM_001349390:exon13:c.A1534G:p.R512G,PEX5L:NM_001349391:exon13:c.A1444G:p.R482G,PEX5L:NM_001349393:exon13:c.A1441G:p.R481G,PEX5L:NM_001349394:exon13:c.A1351G:p.R451G,PEX5L:NM_001349395:exon13:c.A1345G:p.R449G,PEX5L:NM_001349408:exon13:c.A898G:p.R300G,PEX5L:NM_016559:exon13:c.A1474G:p.R492G,PEX5L:NM_001349386:exon14:c.A1639G:p.R547G,PEX5L:NM_001349387:exon14:c.A1546G:p.R516G,PEX5L:NM_001349389:exon14:c.A1540G:p.R514G	.	424	1097	1	0	0	1	0.000455581	.	.	.	2314125	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.329	0.0354391267075	7.7e-05	.	0.0002	0	0.0002	0	0	7.562e-05	0	0.0014	0.0001746	27	154602	rs368029000	0.0001	0.0001	7.259e-05	0.0002	0.0016	0.0001	0.0001	0.0014	0.0013	0	0.0003	0	2.535e-05	0	0.0009	2.437e-05	0.0001	0.0016	0.0001	0.0001	0.0001	0.0001	0.0017	7.091e-05	5.748e-05	0.0008	0.0006	0	0	0.0002	0	0	0	0	7.35e-05	0.0005	0.0017	0.001	0.91255	D	0.003	0.79402	D	0.92	0.52359	P	0.652	0.52532	P	0.000000	0.84330	D	0.042636	0.999962	0.52935	D	1.14	0.29013	L	0.32	0.58468	T	-4.18	0.75537	D	0.512	0.57348	-0.6598	0.62285	T	0.208	0.56744	T	10	0.07332283	0.11063	T	0.035439	0.56343	D	0.329	0.65126	.	.	0.675616982066	0.67287	0.73783982540752	0.73728	1.26647579801	0.82178	0.516022622585	0.41066	T	0.465912	0.80087	T	-0.201805	0.20545	T	-0.108207	0.62755	T	0.157588995980882	0.17691	T	0.976702	0.91973	D	0.69108456	0.77570	0.72519755	0.83769	0.69108456	0.77571	0.72519755	0.83770	-8.996	0.69839	D	.	.	0.710	0.73355	P	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.908426	0.56977	23.8	0.99563624488931657	0.71953	0.94025	0.59887	D	AEFI	0.610362	0.59922	D	-0.0177646813446809	0.41053	2.448667	0.00702123693030771	0.40040	2.383334	0.309983521551415	0.19277	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	6.17	2.13	0.26445	3.439000	0.52642	2.021000	0.30209	-0.155000	0.11859	1.000000	0.71638	0.998000	0.33993	0.992000	0.67800	0.0:0.0:0.3401:0.6599	15.123	0.72137	820	0.40914	.;Tetratricopeptide repeat-containing domain;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	268.49	28	chr3	179808316	.	T	C	268.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.582;DP=197;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.59;ReadPosRankSum=-0.233;SOR=0.495	GT:AD:DP:GQ:PL	0/1:16,12:28:99:279,0,373	6	0	1	0
chr3	195779323	195779323	-	GGCTGGTGA	exonic	MUC4	.	nonframeshift insertion	MUC4:NM_018406:exon2:c.12256_12257insTCACCAGCC:p.A4086delinsVTSP	.	523	985	7	3	4	17	0.00655572	.	.	.	2825170	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	6.176e-05	0	0	0	0	0.0002	0	0	.	.	.	rs763983596	0.0007	0.0006	0.0006	0.0008	0.0021	0.0007	0.0006	0.0018	0.0017	0.0005	6.912e-05	0.0102	0	0	0.0017	0.0004	0.0013	0.0021	0.0002	0.0004	0.0002	0.0003	0.0011	0.0001	0.0001	0.0003	0.0002	0	0	0	0.0024	0	0	0	0.0003	0	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	3278.19	74	chr3	195779323	.	G	GGGCTGGTGA	3278.19	.	AC=2;AF=0.143;AN=14;DP=880;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=45.1;QD=29.86;SOR=1.371	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,74:74:99:1|1:195779323_G_GGGCTGGTGA:3299,213,0:195779323	6	1	0	0
chr3	195779325	195779325	-	TGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGTG	exonic	MUC4	.	nonframeshift insertion	MUC4:NM_018406:exon2:c.12254_12255insCACTTCCTCAGCATCCACAGGTCACGCCACCCCTCTTCA:p.D4085_A4086insTSSASTGHATPLH	.	723	766	9	4	20	37	0.0109748	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.576e-05	0	0	0	0	0.0002	0	0	.	.	.	.	0.0008	0.0006	0.0007	0.0010	0.0024	0.0008	0.0008	0.0021	0.0020	0.0005	9.332e-05	0.0158	0	0	0.0023	0.0005	0.0017	0.0024	0.0003	0.0008	0.0001	0.0004	0.0026	0.0002	0.0001	0.0007	0.0004	0	0	0	0.0050	0	0	0	0.0002	0	0.0026	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	3946.94	89	chr3	195779325	.	A	ATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGTG	3946.94	.	AC=2;AF=0.25;AN=8;DP=898;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.375;MQ=44.62;QD=29.34;SOR=1.27	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,89:89:99:1|1:195779323_G_GGGCTGGTGA:3962,258,0:195779323	3	1	0	3
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	1/1:0,56:56:99:2526,187,0	4	2	1	0
chr3	195779629	195779724	GGGGTGGCGTGACCTGTGGATGCTGAGGAACGGCTGGTGACAGGAAGAGAGGTGGCGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGA	-	exonic	MUC4	.	frameshift deletion	MUC4:NM_001322468:exon16:c.10128_10215del:p.S3377Tfs*95	.	868	396	38	54	166	312	0.15565	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.173e-05	7.061e-06	0	2.338e-05	0.0012	3.12e-06	8.7e-07	3.321e-05	1.365e-05	0	0.0002	0	0	0	0.0012	0	0	0	0	9.376e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	5471.18	123	chr3	195779628	.	GGGGGTGGCGTGACCTGTGGATGCTGAGGAACGGCTGGTGACAGGAAGAGAGGTGGCGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGA	G	5471.18	.	AC=2;AF=0.25;AN=8;DP=1142;ExcessHet=0;FS=1.099;MLEAC=3;MLEAF=0.375;MQ=54.52;QD=8.66;SOR=0.768	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,123:123:99:1|1:195779564_T_G:5486,370,0:195779564	3	1	0	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	1/1:0,118:118:99:5174,378,0	2	2	1	2
chr3	195780034	195780034	-	CTGAGGAAGTGTCGGTGACAGGAAGGGGGGTGGTGTCACCTGTGGATG	exonic;splicing	MUC4;MUC4	NM_001322468:exon15:c.10105+1->CATCCACAGGTGACACCACCCCCCTTCCTGTCACCGACACTTCCTCAG	nonframeshift insertion	MUC4:NM_018406:exon2:c.11545_11546insCATCCACAGGTGACACCACCCCCCTTCCTGTCACCGACACTTCCTCAG:p.S3848_V3849insASTGDTTPLPVTDTSS	.	487	564	422	42	7	513	0.30967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	6283.65	148	chr3	195780034	.	A	ACTGAGGAAGTGTCGGTGACAGGAAGGGGGGTGGTGTCACCTGTGGATG	6283.65	.	AC=2;AF=0.143;AN=14;DP=1829;ExcessHet=0.3696;FS=0;MLEAC=2;MLEAF=0.143;MQ=53.76;QD=5.53;SOR=0.7	GT:AD:DP:GQ:PL	1/1:0,148:148:99:6303,438,0	6	1	0	0
chr3	195781292	195781292	T	0	exonic	MUC4	.	.	.	.	432	934	41	0	115	156	0.0214772	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	4524.16	371	chr3	195781292	.	T	*	4524.16	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.23;DP=2945;ExcessHet=1.1394;FS=0;MLEAC=1;MLEAF=0.083;MQ=58.57;MQRankSum=1.07;QD=3.54;ReadPosRankSum=1.87;SOR=0.684	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:187,184:371:99:0|1:195781220_T_C:6205,0,6761:195781220	5	0	1	1
chr3	195781628	195781628	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	13811.8	197	chr3	195781628	.	C	*	13811.8	.	AC=7;AF=0.5;AN=14;BaseQRankSum=2.55;DP=2021;ExcessHet=1.1394;FS=1.351;MLEAC=7;MLEAF=0.5;MQ=55.87;MQRankSum=-2.156;QD=7.01;ReadPosRankSum=0.308;SOR=0.838	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,51:197:99:.:.:5571,4558,6183:.	2	2	3	0
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|1:121,131:252:99:0|1:195782475_GGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCT_G:4766,0,4598:195782475	4	1	2	0
chr3	195782558	195782558	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	11022.0	370	chr3	195782558	.	A	*	11022.0	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.92;DP=2625;ExcessHet=0.7136;FS=0;MLEAC=2;MLEAF=0.167;MQ=56.37;MQRankSum=-1.44;QD=9.15;ReadPosRankSum=1.42;SOR=0.701	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:251,119:370:99:1|0:195782475_GGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCT_G:3846,0,9024:195782475	4	0	2	1
chr3	195782605	195782605	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	3148.91	370	chr3	195782605	.	A	*	3148.91	.	AC=2;AF=0.2;AN=10;BaseQRankSum=0.799;DP=2779;ExcessHet=0.4813;FS=0;MLEAC=2;MLEAF=0.2;MQ=53.76;MQRankSum=-2.044;QD=4.87;ReadPosRankSum=-2.394;SOR=0.703	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:251,119:370:99:1|0:195782475_GGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCT_G:3846,0,9024:195782475	3	0	2	2
chr3	195782949	195782949	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	8965.88	277	chr3	195782949	.	A	*	8965.88	.	AC=1;AF=0.167;AN=6;BaseQRankSum=-4.918;DP=3126;ExcessHet=0;FS=4.778;MLEAC=2;MLEAF=0.333;MQ=57.14;MQRankSum=-6.525;QD=12.56;ReadPosRankSum=0.211;SOR=0.795	GT:AD:DP:GQ:PL	0/1:0,191:277:99:7324,2499,2965	2	0	1	4
chr3	195783008	195783008	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	406.35	293	chr3	195783008	.	A	*	406.35	.	AC=1;AF=0.125;AN=8;BaseQRankSum=0.607;DP=2721;ExcessHet=0.3476;FS=2.441;MLEAC=1;MLEAF=0.125;MQ=55.09;MQRankSum=-6.747;QD=0.45;ReadPosRankSum=-2.05;SOR=0.753	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:109,184:293:99:0|1:195782942_GGGTGGCATGACCTGTGGACACTGAGGAAGCGTCGGTGACAGGAAGAGA_G:1696,0,3824:195782942	3	0	1	3
chr3	195783009	195783009	C	0	exonic	MUC4	.	.	.	.	474	974	47	0	27	74	0.0235589	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	1428.6	293	chr3	195783009	.	C	*	1428.6	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-0.163;DP=2731;ExcessHet=1.1394;FS=1.778;MLEAC=1;MLEAF=0.1;MQ=54.54;MQRankSum=-6.807;QD=1.56;ReadPosRankSum=-1.994;SOR=0.744	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:109,184:293:99:0|1:195782942_GGGTGGCATGACCTGTGGACACTGAGGAAGCGTCGGTGACAGGAAGAGA_G:1696,0,3824:195782942	4	0	1	2
chr3	195783018	195783020	AGC	0	exonic	MUC4	.	.	.	.	441	1022	49	0	10	59	0.0234114	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	2542.0	293	chr3	195783018	.	AGC	*	2542.0	.	AC=1;AF=0.071;AN=14;BaseQRankSum=5.32;DP=2301;ExcessHet=0.3476;FS=0.523;MLEAC=1;MLEAF=0.071;MQ=55.3;MQRankSum=0.999;QD=2.74;ReadPosRankSum=1.31;SOR=0.686	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:109,184:293:99:0|1:195782942_GGGTGGCATGACCTGTGGACACTGAGGAAGCGTCGGTGACAGGAAGAGA_G:1696,0,3824:195782942	6	0	1	0
chr3	195783022	195783116	TCGGTGACAGGAAGAGGGGTGGTGTGACCTGAGGATGCTGAGGAAGGGATGGTGACAGGAAGAGAGGTGGCATGACCTGTGAACACTGAGGAAGC	0	exonic	MUC4	.	.	.	.	440	1025	47	0	10	57	0.022413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	2349.0	293	chr3	195783022	.	TCGGTGACAGGAAGAGGGGTGGTGTGACCTGAGGATGCTGAGGAAGGGATGGTGACAGGAAGAGAGGTGGCATGACCTGTGAACACTGAGGAAGC	*	2349.0	.	AC=1;AF=0.071;AN=14;BaseQRankSum=4.85;DP=2590;ExcessHet=0.3476;FS=0.52;MLEAC=1;MLEAF=0.071;MQ=56.46;MQRankSum=-1.873;QD=1.95;ReadPosRankSum=0.91;SOR=0.65	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:109,184:293:99:0|1:195782942_GGGTGGCATGACCTGTGGACACTGAGGAAGCGTCGGTGACAGGAAGAGA_G:1696,0,3824:195782942	6	0	1	0
chr3	195783068	195783068	G	0	exonic	MUC4	.	.	.	.	442	900	103	29	48	209	0.082101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	2969.16	238	chr3	195783068	.	G	*	2969.16	.	AC=2;AF=0.2;AN=10;BaseQRankSum=0.931;DP=2619;ExcessHet=0;FS=1.123;MLEAC=2;MLEAF=0.2;MQ=54.92;MQRankSum=0.902;QD=2.3;ReadPosRankSum=0.72;SOR=0.572	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,191:238:99:0|1:195783068_G_*:3907,1914,1762:195783068	3	0	2	2
chr3	195783070	195783070	A	0	exonic	MUC4	.	.	.	.	2	173	30	8	13	59	0.117347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	2843.16	238	chr3	195783070	.	A	*	2843.16	.	AC=2;AF=0.2;AN=10;BaseQRankSum=0.931;DP=2266;ExcessHet=0;FS=1.796;MLEAC=2;MLEAF=0.2;MQ=55.79;MQRankSum=0.902;QD=2.96;ReadPosRankSum=1.1;SOR=0.601	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,191:238:99:0|1:195783068_G_*:3916,1914,1636:195783068	3	0	2	2
chr3	195783086	195783086	A	0	exonic	MUC4	.	.	.	.	490	879	93	33	27	186	0.0829421	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	2170.58	225	chr3	195783086	.	A	*	2170.58	.	AC=1;AF=0.167;AN=6;BaseQRankSum=0.96;DP=2271;ExcessHet=0;FS=3.133;MLEAC=1;MLEAF=0.167;MQ=55.62;MQRankSum=0.942;QD=8.65;ReadPosRankSum=1.01;SOR=0.326	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,191:225:99:0|1:195783068_G_*:3435,1421,1090:195783068	2	0	1	4
chr3	195783103	195783103	A	0	exonic	MUC4	.	.	.	.	690	605	177	26	24	253	0.159138	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1020.4	209	chr3	195783103	.	A	*	1020.4	.	AC=1;AF=0.167;AN=6;BaseQRankSum=1.75;DP=2289;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.167;MQ=56.78;MQRankSum=1.51;QD=4.16;ReadPosRankSum=-0.745;SOR=0.593	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,191:209:99:0|1:195783068_G_*:2774,757,418:195783068	2	0	1	4
chr3	195784402	195784402	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C7178T:p.A2393V,MUC4:NM_001322468:exon7:c.C7130T:p.A2377V	.	418	1067	23	0	14	37	0.010663	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	.	.	.	0.0071	0.0234	0.0092	0	0.0116	0.0076	0.0093	0.0017	0.0006856	106	154602	rs199533374	5.616e-05	0.0007	7.112e-05	4.079e-05	0.0018	4.486e-05	4.123e-05	0.0014	0.0012	0.0018	3.248e-05	0	0	2.57e-05	0.0007	2.033e-05	2.15e-05	7.069e-05	0.0006	0.0058	0.0006	0.0005	0.0018	0.0005	0.0004	0.0014	0.0012	0.0018	0	0.0002	0.0007	0	0.0004	0	0.0002	0.0012	0.0003	0.171	0.22746	T	0.024	0.56640	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.53	0.30401	T	0.05	0.06369	N	0.035	0.01498	-1.0144	0.25529	T	0.035	0.15030	T	7	0.0052488744	0.00115	T	.	.	.	0.006	0.00375	.	.	0.0138822411134	0.00435	9.342545200597564E-4	0.00086	.	.	0.499631017447	0.38777	T	.	.	.	-0.347227	0.04904	T	-0.736544	0.04037	T	0.00477445630382751	0.00051	T	0.627137	0.24302	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.17275	B	.;.	.;.	-0.081976	0.03751	0.779	0.97438579296314443	0.33966	0.00078	0.00535	N	AEFBI	0.043426	0.06864	N	-1.87022966466674	0.00395	0.01698035	-1.97403068363535	0.00347	0.01533539	5.70860444770443E-5	0.04171	0.617157	0.39670	1	0.446627	0.06534	0	0.786243	0.99158	0	0.613276	0.41899	0	.	.	.	.	.	0.290000	0.18731	-1.695000	0.04899	-2.014000	0.00440	0.100000	0.22794	0.000000	0.08366	0.015000	0.10482	0.2688:0.0:0.7312:0.0	5.400	0.15591	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.193980	0.262887	0.140351	0.184874	0.300000	0.157407	0.221519	0.209016	0.1	379.11	736	chr3	195784402	.	G	A	379.11	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-0.044;DP=5981;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=58.72;MQRankSum=-1.335;QD=0.52;ReadPosRankSum=-2.805;SOR=0.682	GT:AD:DP:GQ:PL	0/1:668,68:736:99:388,0,25921	4	0	1	2
chr3	195785314	195785314	-	C	exonic	MUC4	.	frameshift insertion	MUC4:NM_018406:exon2:c.6265_6266insG:p.I2089Sfs*27,MUC4:NM_001322468:exon6:c.6265_6266insG:p.S2089Cfs*110	.	482	1018	3	1	18	23	0.00244978	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0004	0	0	0	8.29e-05	0	0.0001	.	.	.	rs764936489	0.0004	0.0014	0.0003	0.0005	0.0021	0.0004	0.0004	0.0016	0.0015	0.0021	0.0005	0.0004	0.0002	0.0011	0.0005	0.0003	0.0007	0.0003	0.0006	0.0014	0.0006	0.0007	0.0015	0.0005	0.0005	0.0011	0.0010	0.0015	0	0.0002	0	0	0.0002	0	0.0005	0.0006	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	456.4	520	chr3	195785314	.	A	AC	456.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.163;DP=4242;ExcessHet=0;FS=2.064;MLEAC=1;MLEAF=0.071;MQ=57.45;MQRankSum=-0.779;QD=0.88;ReadPosRankSum=0.135;SOR=1.079	GT:AD:DP:GQ:PL	0/1:469,51:520:99:467,0,18829	6	0	1	0
chr3	195785315	195785315	-	GAGGAAGCGTCGGTGACAGGAAGAGGCGTGGCGTGACCTGTGGACAC	exonic	MUC4	.	frameshift insertion	MUC4:NM_018406:exon2:c.6264_6265insGTGTCCACAGGTCACGCCACGCCTCTTCCTGTCACCGACGCTTCCTC:p.I2089Vfs*931,MUC4:NM_001322468:exon6:c.6264_6265insGTGTCCACAGGTCACGCCACGCCTCTTCCTGTCACCGACGCTTCCTC:p.S2089Vfs*236	.	542	16	26	927	11	1891	0.983264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.337e-05	0	0	0	0.0005	7.837e-05	0	0	1.29e-05	2	154602	rs751858617	0.0001	0.0010	0.0001	0.0002	0.0009	0.0001	0.0001	0.0006	0.0006	0.0009	8.604e-05	0	2.823e-05	0.0005	0.0002	9.85e-05	0.0002	7.712e-05	0.0004	0.0010	0.0004	0.0004	0.0009	0.0003	0.0003	0.0007	0.0006	0.0009	0	7.172e-05	0	0	0.0001	0	0.0003	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	141638.0	520	chr3	195785315	.	T	TGAGGAAGCGTCGGTGACAGGAAGAGGCGTGGCGTGACCTGTGGACAC	141638.0	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.84;DP=4451;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=57.42;MQRankSum=-0.424;QD=33.51;ReadPosRankSum=-0.868;SOR=0.246	GT:AD:DP:GQ:PL	0/1:0,51:520:99:18869,14339,18827	6	0	1	0
chr4	973287	973287	C	T	exonic	DGKQ	.	nonsynonymous SNV	DGKQ:NM_001347:exon1:c.G196A:p.V66M	.	396	1122	4	0	0	4	0.00177936	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.831394296602	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1301134628	8.693e-06	1.026e-05	5.751e-06	1.168e-05	0.0002	4.64e-06	3.66e-06	1.031e-05	4.86e-06	0	0	0	0	0	0.0002	6.514e-06	1.774e-05	3.883e-05	6.584e-06	6.567e-06	1.287e-05	0	6.554e-05	0	0	.	.	0	0	6.554e-05	0	0	0	0	0	0	0	0.026	0.46910	D	0.05	0.48080	T	0.999	0.77913	D	0.999	0.92359	D	0.000232	0.47286	U	0.000000	0.999882	0.50402	D	1.975	0.53506	M	1.98	0.21865	T	0.02	0.06739	N	0.264	0.29889	-1.1056	0.03476	T	0.074	0.29802	T	10	0.5548644	0.64460	D	0.831394	0.98693	D	0.114	0.32008	0.337	0.32654	0.223146558224	0.21909	0.3225320178616927	0.32166	0.569347464813	0.53119	0.936134576797	0.99298	D	0.306644	0.67884	T	-0.138838	0.30074	T	-0.437208	0.29121	T	0.836469888687134	0.49041	D	0.955504	0.83071	D	0.12224069	0.28730	0.112119876	0.27051	0.12224069	0.28730	0.112119876	0.27050	-10.577	0.77288	D	.	.	0.847	0.79600	P	.	.	5.093555	0.85075	28.5	0.99817336319022198	0.90061	0.36211	0.25481	N	AEFDBCI	0.237078	0.35942	N	0.0144232460407465	0.42510	2.56277	-0.112336844489406	0.34892	2.012252	0.999999999796079	0.74766	0.652421	0.48094	0	0.748881	0.99253	0	0.606884	0.38211	0	0.71	0.69187	0	.	.	1.96	1.96	0.25203	3.153000	0.50383	.	.	0.498000	0.22619	0.996000	0.39380	1.000000	0.68203	0.942000	0.48361	0.0:1.0:0.0:0.0	9.575	0.38615	759	0.50631	Protein kinase C-like, phorbol ester/diacylglycerol-binding domain|Protein kinase C-like, phorbol ester/diacylglycerol-binding domain|Protein kinase C-like, phorbol ester/diacylglycerol-binding domain|Protein kinase C-like, phorbol ester/diacylglycerol-binding domain|Protein kinase C-like, phorbol ester/diacylglycerol-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	808.63	29	chr4	973287	.	C	T	808.63	.	AC=2;AF=0.143;AN=14;DP=203;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=27.88;SOR=1.46	GT:AD:DP:GQ:PL	1/1:0,29:29:87:829,87,0	6	1	0	0
chr4	2462846	2462846	C	T	exonic	CFAP99	.	nonsynonymous SNV	CFAP99:NM_001193282:exon16:c.C1861T:p.R621W	.	433	1084	5	0	0	5	0.00230097	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.406619540706	.	.	.	.	.	.	.	.	.	.	.	.	.	rs906422794	4.679e-05	8.551e-05	4.287e-05	5.084e-05	0.0003	3.67e-05	3.356e-05	3.225e-05	2.866e-05	0	0	0.0004	0	0	0.0003	4.281e-05	9.973e-05	1.645e-05	3.956e-05	3.943e-05	2.578e-05	5.399e-05	7.367e-05	1.72e-05	1.133e-05	2.851e-05	1.862e-05	2.418e-05	0	0	0	0	0	0	7.367e-05	0	0	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.182	0.21056	-0.5559	0.66561	T	0.261	0.63143	T	5	0.13567576	0.25816	T	0.40662	0.93510	D	0.039	0.10176	.	.	0.341696514166	0.33777	0.16662296199362495	0.16582	.	.	.	.	.	.	.	.	-0.178359	0.23981	T	-0.493977	0.22974	T	0.343895527709201	0.26778	T	0.676232	0.39899	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.228	0.46085	B	.;.;.	.;.;.	3.943765	0.57728	23.9	0.99683103285815022	0.79373	0.06971	0.12997	N	ALL	0.159917	0.28579	N	-0.154674663027972	0.35037	2.007419	-0.217276539513503	0.30916	1.744941	0.999999999512389	0.74766	0.623204	0.39778	0	0.606814	0.50340	0	0.378051	0.06126	2	0.765457	0.99879	0	.	.	2.77	2.77	0.31614	0.304000	0.18983	0.481000	0.18806	0.428000	0.20880	0.055000	0.21596	0.108000	0.22760	0.731000	0.35132	0.0:1.0:0.0:0.0	9.184	0.36320	774	0.48577	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	290.91	11	chr4	2462846	.	C	T	290.91	.	AC=2;AF=0.167;AN=12;DP=78;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=26.45;SOR=1.802	GT:AD:DP:GQ:PL	1/1:0,11:11:33:310,33,0	5	1	0	1
chr4	3442889	3442889	C	G	exonic	HGFAC	.	nonsynonymous SNV	HGFAC:NM_001297439:exon2:c.C275G:p.S92W,HGFAC:NM_001528:exon2:c.C275G:p.S92W	.	422	1074	26	0	0	26	0.0119595	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.368	0.298130451809	7.7e-05	0.00159744	0.0016	0	0.0019	0.0004	0	0.0004	0.0025	0.0098	0.0014489	224	154602	rs199767749	0.0008	0.0009	0.0006	0.0011	0.0090	0.0008	0.0008	0.0084	0.0082	6.48e-05	0.0011	4.251e-05	0.0001	0	0.0074	0.0003	0.0009	0.0090	0.0007	0.0007	0.0006	0.0008	0.0100	0.0006	0.0006	0.0077	0.0069	9.63e-05	0	0.0008	0	0	0	0.0068	0.0005	0.0043	0.0100	0.185	0.21550	T	0.015	0.61642	D	0.947	0.53479	P	0.367	0.43430	B	0.860091	0.08901	U	0.882545	0.999967	0.18878	N	0.805	0.20218	L	-2.55	0.89561	D	-0.33	0.12472	N	0.509	0.54059	-0.5275	0.67635	T	0.424	0.76816	T	10	0.005494565	0.00121	T	0.29813	0.90791	D	0.368	0.68757	.	.	0.504968073517	0.50134	0.43640903971464434	0.43557	0.210624317738	0.23558	0.569095015526	0.48549	T	0.047731	0.27809	T	-0.324838	0.06509	T	-0.234116	0.51373	T	0.0241400113216677	0.01163	T	0.649135	0.25986	T	0.033651676	0.03627	0.040767018	0.04483	0.033651676	0.03627	0.040767018	0.04482	-5.755	0.44180	T	.	.	0.134	0.40937	B	.;.	.;.	1.431416	0.18497	13.77	0.86557852664696322	0.16616	0.13757	0.18035	N	AEFDBHCI	0.441084	0.49938	N	-1.20330469427619	0.04951	0.2246092	-1.38654132267877	0.03394	0.158255	0.999998942615482	0.74766	0.580535	0.33130	0	0.547309	0.14657	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	1.99	-0.856	0.10155	0.326000	0.19391	0.779000	0.21463	-1.329000	0.01219	0.001000	0.13787	0.000000	0.08366	0.013000	0.09966	0.0:0.4418:0.2409:0.3173	2.897	0.05343	862	0.33134	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006042	0.010101	0.002717	0.002924	0.000000	0.008621	0.003049	0.011364	0.07143	1128.53	54	chr4	3442889	.	C	G	1128.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.548;DP=296;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=20.9;ReadPosRankSum=1.23;SOR=0.625	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:25,29:54:99:0|1:3442866_G_A:1139,0,835:3442866	6	0	1	0
chr4	6862306	6862306	T	C	exonic	KIAA0232	.	nonsynonymous SNV	KIAA0232:NM_001100590:exon6:c.T1924C:p.S642P,KIAA0232:NM_014743:exon7:c.T1924C:p.S642P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.00517274981781	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1049661710	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.005	0.63226	D	0.024	0.56640	D	0.01	0.15535	B	0.01	0.14941	B	0.002610	0.36243	N	0.335799	0.997385	0.43845	D	1.845	0.48678	L	.	.	.	-1.21	0.30762	N	0.255	0.28849	-0.8699	0.50537	T	0.178	0.52350	T	9	0.10915744	0.20352	T	0.005173	0.13156	T	0.057	0.16321	0.471	0.54537	0.0675242888579	0.06100	0.46100661359438516	0.46018	0.236252140533	0.26164	0.507156848907	0.39825	T	0.032907	0.22691	T	-0.0647136	0.42169	T	-0.330733	0.41388	T	0.740678250789642	0.42773	D	0.785921	0.42389	T	0.33447877	0.55835	0.22762217	0.47778	0.33447877	0.55835	0.22762217	0.47777	-4.395	0.29489	T	.	.	0.096	0.18950	B	.;.	.;.	2.849310	0.37614	20.5	0.99790826753695638	0.87661	0.97746	0.76833	D	AEFBI	0.619401	0.60485	D	-0.157216252661344	0.34928	1.999906	-0.0453646344165534	0.37692	2.210343	0.99990703318278	0.45458	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.73	1.7	0.23359	2.683000	0.46609	0.685000	0.20714	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0737:0.2877:0.6386	6.857	0.23230	682	0.59757	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	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	0/1:38,27:65:99:311,0,747	0	0	6	1
chr4	9210768	9210768	C	G	exonic	USP17L10	.	nonsynonymous SNV	USP17L10:NM_001256852:exon1:c.C112G:p.P38A	.	677	833	12	0	0	12	0.00715137	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.0015459483867	.	.	.	.	.	.	.	.	.	.	.	.	.	rs754133272	0.0004	0.0014	0.0004	0.0004	0.0014	0.0003	0.0003	0.0003	0.0003	0.0004	0.0004	0.0010	0	0.0013	0.0014	0.0004	0.0004	0.0004	0	0.0009	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.048	0.41915	D	0.011	0.65728	D	.	.	.	.	.	.	0.864414	0.08871	U	0.896444	1	0.08975	N	2.115	0.58683	M	2.41	0.15492	T	-3.47	0.67824	D	0.205	0.23125	-0.9713	0.36925	T	0.036	0.15553	T	7	0.13079363	0.24892	T	0.001546	0.02420	T	0.045	0.12272	0.208	0.12497	0.110078149338	0.10416	0.020390398911889974	0.01992	.	.	0.469341129065	0.34589	T	0.062536	0.31943	T	-0.279078	0.10765	T	-0.638653	0.09767	T	0.200948345136473	0.20468	T	0.732227	0.34774	T	0.09496307	0.22339	0.15532763	0.36414	0.09496307	0.22339	0.15532763	0.36413	-3.727	0.19717	T	.	.	0.082	0.08705	B	.;.	.;.	0.587323	0.09560	6.333	0.75078402490821039	0.10937	0.01658	0.05317	N	AEFI	0.025428	0.01739	N	-0.724146622873609	0.15345	0.772478	-0.928985853526401	0.11412	0.5812106	3.04856071153045E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.337	0.337	0.15206	-0.237000	0.09007	.	.	0.397000	0.20528	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	.	.	.	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	36.63	10	chr4	9210768	.	C	G	36.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.213;DP=213;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=20.62;MQRankSum=0.903;QD=3.66;ReadPosRankSum=-0.33;SOR=0.223	GT:AD:DP:GQ:PL	0/1:7,3:10:47:47,0,146	6	0	1	0
chr4	9340048	9340048	A	T	exonic	USP17L24;USP17L25;USP17L26;USP17L27;USP17L28;USP17L29;USP17L30;USP17L5	.	nonsynonymous SNV	USP17L25:NM_001242326:exon1:c.A646T:p.T216S,USP17L24:NM_001242327:exon1:c.A646T:p.T216S,USP17L26:NM_001242328:exon1:c.A646T:p.T216S,USP17L5:NM_001242329:exon1:c.A646T:p.T216S,USP17L27:NM_001242330:exon1:c.A646T:p.T216S,USP17L28:NM_001242331:exon1:c.A646T:p.T216S,USP17L29:NM_001242332:exon1:c.A646T:p.T216S,USP17L30:NM_001256867:exon1:c.A646T:p.T216S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.358814085286	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.202e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.35918	T	0.062	0.45318	T	.	.	.	.	.	.	0.000082	0.51296	N	0.073236	0.995135	0.23364	N	2.72	0.79541	M	3.35	0.05989	T	-3.35	0.66436	D	0.124	0.11626	-1.0965	0.04542	T	0.031	0.13418	T	7	0.2523764	0.42591	T	0.358814	0.92459	D	0.095	0.27398	0.639	0.77579	0.132336055621	0.12781	0.010314697607500345	0.00992	.	.	0.517355918884	0.41253	T	0.024066	0.18256	T	-0.281594	0.10499	T	-0.642267	0.09505	T	0.892876267433167	0.54402	D	0.712229	0.32360	T	0.27373663	0.50440	0.25910306	0.51654	0.27373663	0.50440	0.25910306	0.51653	-7.389	0.56827	T	.	.	0.306	0.53433	B	.	.	2.209729	0.28189	17.71	0.98056432311961472	0.37913	0.28131	0.23469	N	AEFI	0.084642	0.17156	N	-0.134035447503074	0.35917	2.069177	-0.270965109891691	0.29059	1.625109	2.09279452371683E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.256	0.256	0.14825	2.072000	0.41135	.	.	0.494000	0.22454	0.039000	0.20931	0.000000	0.08366	0.197000	0.21808	.	.	.	970	0.06235	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	1.0	43.18	2	chr4	9340048	.	A	T	43.18	.	AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=40;QD=21.59;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	0	1	0	6
chr4	38798741	38798741	T	C	exonic	TLR1	.	nonsynonymous SNV	TLR1:NM_003263:exon4:c.A91G:p.R31G	.	426	1090	5	1	0	7	0.00320073	.	.	.	3209040	TLR1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.169	0.0417602791577	7.7e-05	0.000998403	0.0005	0	0	0.0046	0	0.0003	0	6.067e-05	0.0004463	69	154602	rs140255888	0.0004	0.0004	0.0004	0.0004	0.0109	0.0004	0.0004	0.0101	0.0097	5.978e-05	0	0.0005	0.0109	0	0.0004	0.0001	0.0003	2.324e-05	0.0002	0.0002	0.0002	0.0002	0.0042	0.0002	0.0001	0.0029	0.0024	0	0	6.536e-05	0.0006	0.0042	0	0	0.0001	0	0	0.281	0.56456	T	0.298	0.20486	T	0.271	0.31796	B	0.171	0.35348	B	0.066963	0.21774	N	0.428037	0.982389	0.24968	N	1.87	0.49600	L	2.25	0.83327	T	-1.75	0.73267	N	0.442	0.48042	-0.6289	0.63618	T	0.351	0.71518	T	10	0.009595305	0.00216	T	0.04176	0.60099	D	0.169	0.43123	.	.	0.902336399442	0.90136	0.31238352286913	0.31151	0.155369030268	0.17535	0.258327484131	0.04694	T	0.109141	0.42277	T	-0.255218	0.13465	T	-0.139661	0.60148	T	0.0339793185498645	0.02635	T	0.829117	0.66280	T	0.15525512	0.35098	0.0790415	0.17760	0.15525512	0.35098	0.0790415	0.17759	-4.882	0.35532	T	.	.	0.129	0.51209	B	.;.;.;.;.	.;.;.;.;.	2.282227	0.29185	18.04	0.99413387873559123	0.63405	0.89748	0.50414	D	AEFGBI	0.532417	0.55229	D	-0.0147123441614627	0.41189	2.459331	0.0612013418171413	0.42617	2.580803	0.999944384333663	0.47345	0.706548	0.73137	0	0.724815	0.89359	0	0.573888	0.23631	0	0.586402	0.36253	0	.	.	5.2	3.94	0.44807	2.629000	0.46152	3.560000	0.39084	0.665000	0.62972	0.716000	0.28781	0.966000	0.29516	0.714000	0.34579	0.2603:0.0:0.0:0.7397	8.223	0.30714	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	0	0	1	0	.	.	.	.	.	.	.	.	0.07143	615.44	81	chr4	38798741	.	T	C	615.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.64;DP=288;ExcessHet=0;FS=0.882;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.6;ReadPosRankSum=-0.566;SOR=0.701	GT:AD:DP:GQ:PL	0/1:54,27:81:99:626,0,1255	6	0	1	0
chr4	41631155	41631155	G	A	exonic	LIMCH1	.	nonsynonymous SNV	LIMCH1:NM_001330672:exon10:c.G1279A:p.D427N	.	438	1070	13	1	0	15	0.00696056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.04157304898	.	0.00219649	0.0051	0	0	0	0.0060	0.0067	0	0.0053	0.0011319	175	154602	rs185882675	0.0056	0.0053	0.0057	0.0055	0.0065	0.0055	0.0055	0.0064	0.0063	0.0007	0.0023	0.0032	2.805e-05	0.0048	0.0020	0.0065	0.0042	0.0021	0.0034	0.0034	0.0036	0.0032	0.0055	0.0032	0.0031	0.0051	0.0049	0.0009	0	0.0015	0.0049	0	0.0045	0	0.0055	0.0038	0.0017	0.0	0.91255	D	0.12	0.35970	T	0.879	0.48338	P	0.426	0.45295	B	0.822436	0.09168	N	0.910059	1	0.81001	D	.	.	.	0.83	0.47815	T	-1.02	0.26843	N	0.266	0.30118	-0.9015	0.47835	T	0.123	0.42610	T	9	0.0048156083	0.00102	T	0.041573	0.60002	D	0.123	0.34020	.	.	0.257342827899	0.25358	0.03345233526861353	0.03293	.	.	0.375064760447	0.21555	T	0.01545	0.12960	T	-0.5189	0.00447	T	-0.514415	0.20862	T	0.0587949698684455	0.06977	T	0.789521	0.42989	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.08997	B	.	.	3.343846	0.46092	22.2	0.99210618779288573	0.55563	0.94231	0.60513	D	AEFBI	0.277968	0.39236	N	0.068159345096049	0.44980	2.76248	0.0162498780136713	0.40468	2.415647	0.999969413883925	0.48965	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.3	4.43	0.52967	3.005000	0.49208	7.251000	0.57930	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.133000	0.19684	0.0:0.1481:0.8519:0.0	14.302	0.65909	851	0.35303	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	587.83	30	chr4	41631155	.	G	A	587.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.708;DP=193;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=19.59;ReadPosRankSum=0.286;SOR=0.582	GT:AD:DP:GQ:PL	0/1:10,20:30:99:598,0,291	6	0	1	0
chr4	55101941	55101941	C	T	exonic	KDR	.	nonsynonymous SNV	KDR:NM_002253:exon15:c.G2222A:p.S741N	Hemangioma, capillary infantile, somatic	0	1514	7	1	0	9	0.00296345	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.171	0.0381411420151	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.000121	0.49741	N	0.230117	0.836523	0.28689	N	-1.965	0.00208	N	-0.86	0.74477	T	4.07	0.00052	N	0.206	0.22870	-0.8850	0.49357	T	0.070	0.28412	T	10	0.08826959	0.15181	T	0.038141	0.58041	D	0.171	0.43483	0.68	0.81788	0.043077524339	0.03247	0.7155449750555612	0.71497	0.147127309729	0.16595	0.334765821695	0.15653	T	0.094405	0.39410	T	-0.18677	0.22734	T	-0.506058	0.21721	T	0.0584047250449657	0.06915	T	0.752425	0.37456	T	0.02658672	0.01734	0.0657633	0.13376	0.02658672	0.01734	0.0657633	0.13376	0.133	0.00305	T	.	.	0.109	0.20972	B	.;.	.;.	0.824769	0.11960	8.521	0.18009247238676659	0.00548	0.30738	0.24159	N	AEFBI	0.078560	0.15853	N	-1.18537009186819	0.05221	0.2374922	-0.956301716292627	0.10777	0.5449898	0.0912405075838899	0.16129	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.97	-0.268	0.12295	2.855000	0.48032	0.452000	0.18532	-0.186000	0.09761	1.000000	0.71638	0.093000	0.22564	0.776000	0.36750	0.0:0.1541:0.0:0.8459	11.622	0.50382	708	0.56926	Immunoglobulin I-set|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	730.45	63	chr4	55101941	.	C	T	730.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.137;DP=262;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.59;ReadPosRankSum=-0.461;SOR=0.617	GT:AD:DP:GQ:PL	0/1:30,33:63:99:741,0,709	6	0	1	0
chr4	67514649	67514649	G	A	exonic	CENPC	.	nonsynonymous SNV	CENPC:NM_001362481:exon8:c.C869T:p.S290L,CENPC:NM_001812:exon8:c.C869T:p.S290L	.	1	224	1	0	0	1	0.00222717	.	.	.	2336573	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.012	0.00100786069151	8.3e-05	.	5.648e-05	0.0001	0.0003	0.0002	0	2.023e-05	0	0	4.53e-05	7	154602	rs369416101	7.828e-05	8.003e-05	7.1e-05	8.565e-05	0.0004	6.625e-05	6.166e-05	7.149e-05	6.64e-05	2.995e-05	9.051e-05	0	2.535e-05	3.764e-05	0.0004	8.561e-05	0.0001	2.348e-05	0.0001	0.0001	0.0001	6.728e-05	0.0004	6.513e-05	5.324e-05	6.808e-05	3.339e-05	9.654e-05	0	0.0001	0	0.0004	9.436e-05	0	0.0001	0	0	0.437	0.09346	T	0.094	0.39645	T	0.005	0.12996	B	0.002	0.06944	B	0.434884	0.12702	N	0.705549	1	0.08975	N	0.58	0.15352	N	.	.	.	-1.02	0.26843	N	0.105	0.08925	-1.0173	0.24592	T	0.041	0.17700	T	9	0.045089662	0.03539	T	0.001008	0.01096	T	0.012	0.01476	.	.	0.412587454835	0.40873	0.05517231378690145	0.05458	0.0390815817227	0.04159	0.331840604544	0.15213	T	0.085083	0.37422	T	-0.321057	0.06812	T	-0.500635	0.22282	T	0.0213777383042726	0.00840	T	0.761624	0.38671	T	0.020068694	0.00553	0.024992708	0.00530	0.020068694	0.00553	0.024992708	0.00530	-3.913	0.22497	T	.	.	0.065	0.01834	B	.	.	0.922140	0.12971	9.477	0.98340829646273364	0.40438	0.04285	0.09826	N	AEFBI	0.028346	0.02480	N	-1.1803190396346	0.05298	0.24118	-1.1614066237115	0.06565	0.3164352	0.00231480598232289	0.09317	0.732398	0.92422	0	0.724815	0.89359	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	4.71	1.71	0.23429	0.746000	0.25942	2.420000	0.32683	-0.174000	0.10959	0.004000	0.16614	0.997000	0.33255	0.006000	0.07323	0.3924:0.0:0.6076:0.0	6.013	0.18814	917	0.20147	Kinetochore assembly subunit CENP-C, N-terminal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001523	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.000000	0.07143	205.83	16	chr4	67514649	.	G	A	205.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.344;DP=170;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.86;ReadPosRankSum=-0.361;SOR=1.085	GT:AD:DP:GQ:PL	0/1:7,9:16:99:216,0,166	6	0	1	0
chr4	75564170	75564170	G	A	exonic	ODAPH	.	nonsynonymous SNV	ODAPH:NM_001257072:exon2:c.G124A:p.D42N,ODAPH:NM_178497:exon2:c.G124A:p.D42N	.	9	1509	4	0	0	4	0.00132363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.00991521965184	0.0002	0.000199681	0.0002	0	8.637e-05	0	0	0.0003	0	6.056e-05	0.0001552	24	154602	rs148555641	0.0002	0.0002	0.0002	0.0002	0.0005	0.0002	0.0001	0.0002	0.0002	5.974e-05	0.0002	0	0	5.616e-05	0.0005	0.0002	9.935e-05	2.319e-05	0.0002	0.0002	0.0003	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0	0.0110	0.0002	0	0	0	0	0.0003	0	0	0.0	0.91255	D	0.0	0.92824	D	0.552	0.38158	P	0.217	0.37636	B	0.001455	0.38980	N	0.115474	1	0.81001	D	.	.	.	1.29	0.35775	T	-4.43	0.77554	D	0.322	0.36254	-1.0641	0.10760	T	0.064	0.26562	T	10	0.025942385	0.00773	T	0.009915	0.25811	T	0.119	0.33137	.	.	0.0666544352282	0.05500	.	.	.	.	.	.	.	0.023356	0.17844	T	-0.226793	0.17075	T	-0.267356	0.48087	T	0.811162650585175	0.47130	D	0.681532	0.29028	T	0.4740251	0.65537	0.35773695	0.61262	0.4740251	0.65538	0.35773695	0.61262	-3.874	0.21913	T	0.6423188591774359	0.71322	0.141	0.36214	B	.;.	.;.	3.751777	0.53785	23.4	0.99884534496592159	0.95970	0.78601	0.38804	D	AEFI	0.054142	0.09817	N	0.0372917739493595	0.43559	2.64644	0.128549192918233	0.46016	2.854618	0.14174447574508	0.17286	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.9	4.05	0.46415	1.916000	0.39617	7.044000	0.57347	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.825000	0.38878	0.0992:0.0:0.9008:0.0	9.097	0.35804	938	0.14419	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	966.44	67	chr4	75564170	.	G	A	966.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.27;DP=272;ExcessHet=0;FS=2.156;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.42;ReadPosRankSum=0.546;SOR=1.074	GT:AD:DP:GQ:PL	0/1:34,33:67:99:977,0,783	6	0	1	0
chr4	87615021	87615021	G	A	exonic	DSPP	.	nonsynonymous SNV	DSPP:NM_014208:exon5:c.G2359A:p.D787N	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	1074	447	1	0	0	1	0.00111732	.	.	.	1202975	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.242	.	0.0072	0.00658946	0.0029	0.0257	0	0	0	0.0002	0	0	0.0007697	119	154602	rs200350687	0.0008	0.0008	0.0009	0.0007	0.0225	0.0008	0.0008	0.0211	0.0206	0.0225	0.0017	0	0	0.0045	0.0012	2.966e-05	0.0019	0.0001	0.0072	0.0071	0.0071	0.0073	0.0235	0.0068	0.0067	0.0222	0.0217	0.0235	0	0.0026	0	0	0.0068	0	8.879e-05	0.0048	0	.	.	.	0.195	0.28032	T	1.0	0.90584	D	0.983	0.75793	D	.	.	.	.	0.999998	0.08975	N	0.805	0.20218	L	-2.36	0.88143	D	-0.49	0.15578	N	0.127	0.12055	-0.4005	0.72011	T	0.486	0.80395	T	9	0.006106645	0.00137	T	.	.	.	0.242	0.54781	.	.	0.703754780653	0.70118	0.0012919295981752609	0.00119	.	.	.	.	.	0.067113	0.33119	T	-0.500564	0.00568	T	-0.474882	0.24991	T	0.0175185195756789	0.00487	T	0.333467	0.07063	T	0.09085824	0.21272	0.067117706	0.13842	0.09085824	0.21272	0.067117706	0.13842	-5.939	0.45766	T	.	.	.	.	.	.	.	1.140514	0.15277	11.73	0.44668349258317014	0.03451	0.07983	0.13965	N	AEFGBCI	0.028427	0.02501	N	-0.420805275608117	0.24740	1.338061	-0.682468237078409	0.17399	0.9249969	4.7681793187006E-4	0.07095	0.581397	0.33459	0	0.573888	0.26702	0	0.565031	0.19037	0	0.567339	0.31927	0	.	.	1.33	1.33	0.20958	0.659000	0.24677	-0.945000	0.06834	-0.640000	0.04453	0.012000	0.18695	0.000000	0.08366	0.000000	0.00833	0.0:0.0:1.0:0.0	6.084	0.19179	500	0.76024	.	.	.	.	.	.	Likely benign	0	0	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	0.006250	0.000000	0.008929	0.024194	0.000000	0.000000	0.000000	0.000000	0.08333	404.27	34	chr4	87615021	.	G	A	404.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.252;DP=228;ExcessHet=0;FS=1.32;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=0.208;SOR=0.988	GT:AD:DP:GQ:PL	0/1:19,15:34:99:414,0,527	5	0	1	1
chr4	87615398	87615398	T	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	1101	241	102	25	53	205	0.239748	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	1019.18	37	chr4	87615398	.	T	*	1019.18	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.3;DP=279;ExcessHet=2.5225;FS=2.583;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=5.57;ReadPosRankSum=-0.228;SOR=0.675	GT:AD:DP:GQ:PL	0/1:28,9:37:99:293,0,1146	5	0	2	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|1:0,14:21:99:0|1:87615730_ATAG_A:1545,342,247:87615730	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|1:0,14:21:99:0|1:87615730_ATAG_A:1510,321,385:87615730	2	1	4	0
chr4	89936498	89936498	G	C	exonic	MMRN1	.	nonsynonymous SNV	MMRN1:NM_007351:exon6:c.G2818C:p.E940Q,MMRN1:NM_001371403:exon7:c.G2818C:p.E940Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.0102538806098	.	.	8.29e-06	0	0	0	0	0	0.0011	0	6.5e-06	1	154602	rs751173219	1.369e-06	1.368e-06	0	2.752e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.25979	T	0.507	0.10930	T	0.868	0.47740	P	0.178	0.35748	B	0.048944	0.23205	N	0.461272	1	0.18612	N	2	0.54354	M	0.22	0.64818	T	-0.27	0.17624	N	0.114	0.10198	-0.9820	0.34538	T	0.135	0.44875	T	10	0.16622388	0.31046	T	0.010254	0.26566	T	0.084	0.24469	0.329	0.31357	0.586846695618	0.58358	0.15878765651503646	0.15799	0.0245335028444	0.02488	0.270668625832	0.06228	T	0.037	0.30734	T	-0.187615	0.22608	T	-0.507272	0.21597	T	0.130668461322784	0.15444	T	0.735426	0.35200	T	0.07945302	0.18152	0.044073984	0.05627	0.07945302	0.18152	0.044073984	0.05627	-3.42	0.15327	T	.	.	0.099	0.17785	B	.;.;.	.;.;.	1.836309	0.23329	15.98	0.97715319666304901	0.35525	0.48655	0.28256	N	AEFGBI	0.245895	0.36675	N	0.00176974428528094	0.41935	2.517423	0.0246006715697119	0.40860	2.445322	0.0016984835978496	0.08790	0.67177	0.52595	0	0.588015	0.36545	0	0.573888	0.23631	0	0.711	0.71501	0	.	.	5.3	3.29	0.36801	1.420000	0.34411	0.917000	0.22674	0.676000	0.76740	0.866000	0.30720	0.187000	0.23467	0.970000	0.54328	0.2689:0.1589:0.5722:0.0	5.122	0.14196	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	.	.	.	.	.	.	.	.	0.07143	714.53	84	chr4	89936498	.	G	C	714.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.347;DP=272;ExcessHet=0;FS=4.355;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.51;ReadPosRankSum=0.544;SOR=1.284	GT:AD:DP:GQ:PL	0/1:52,32:84:99:725,0,1307	6	0	1	0
chr4	95841007	95841007	G	C	exonic	PDHA2	.	nonsynonymous SNV	PDHA2:NM_005390:exon1:c.G857C:p.R286P	.	259	1180	76	7	0	90	0.0367347	.	.	.	2736164	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.837	.	0.0072	0.00479233	0.0091	0.0013	0.0039	0	0.0018	0.0103	0.0122	0.0205	0.0087644	1355	154602	rs147966234	0.0089	0.0089	0.0083	0.0094	0.0291	0.0088	0.0087	0.0255	0.0242	0.0015	0.0043	0.0293	2.519e-05	0.0026	0.0291	0.0083	0.0102	0.0217	0.0065	0.0065	0.0064	0.0066	0.0207	0.0061	0.0060	0.0174	0.0162	0.0013	0.0022	0.0059	0.0254	0.0002	0.0015	0.0272	0.0090	0.0085	0.0207	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	4.415	0.98701	H	-6.13	0.99538	D	-6.77	0.92782	D	0.682	0.68863	0.850	0.95025	D	0.988	0.99644	D	10	0.019148856	0.00424	T	.	.	.	0.837	0.94877	.	.	0.992494906561	0.99240	0.9509457850072159	0.95078	0.758613918606	0.64132	0.350653082132	0.18018	T	0.90863	0.98262	D	-0.0689159	0.41501	T	0.144487	0.79834	D	0.171731782637727	0.18697	T	0.972603	0.90144	D	0.97855526	0.98997	0.94133365	0.97855	0.97077864	0.98332	0.94133365	0.97855	-14.866	0.95531	D	0.8323588741810592	0.90287	0.984	0.91951	P	.	.	4.374370	0.67375	25.1	0.99635093215139092	0.76264	0.91787	0.54262	D	AEFI	0.551425	0.56350	D	0.704312212544012	0.79916	7.179797	0.518303780275318	0.69223	5.329706	0.00490781993713498	0.10757	0.693126	0.56070	0	0.670034	0.63936	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	4.91	3.17	0.35510	3.625000	0.53979	7.265000	0.57972	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0835:0.1496:0.7669:0.0	8.906	0.34685	875	0.30485	Dehydrogenase, E1 component	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.020141	0.010101	0.004076	0.038012	0.050000	0.025862	0.024390	0.022727	0.07143	1267.44	122	chr4	95841007	.	G	C	1267.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.33;DP=311;ExcessHet=0;FS=0.678;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.39;ReadPosRankSum=0.271;SOR=0.594	GT:AD:DP:GQ:PL	0/1:69,53:122:99:1278,0,1684	6	0	1	0
chr4	99318097	99318097	C	G	exonic	ADH1B	.	nonsynonymous SNV	ADH1B:NM_000668:exon3:c.G208C:p.A70P,ADH1B:NM_001286650:exon4:c.G88C:p.A30P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	0.00535122917252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.83351	D	.	.	.	.	.	.	0.274284	0.15067	N	0.646799	0.986388	0.24621	N	.	.	.	3.67	0.04188	T	-2.9	0.60827	D	0.403	0.44379	-1.0901	0.05515	T	0.040	0.17404	T	10	0.78878886	0.78477	D	0.005351	0.13710	T	0.203	0.48915	0.793	0.91438	0.298403945805	0.29456	0.868512317625715	0.86816	0.674296566844	0.59635	0.391434371471	0.23871	T	0.010873	0.09774	T	-0.116403	0.33711	T	-0.404982	0.32804	T	0.962773263454437	0.66465	D	0.949205	0.80472	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.888	0.85099	P	.;.;.;.	.;.;.;.	3.508601	0.49119	22.7	0.99207734913482859	0.55472	0.90290	0.51349	D	AEFDGBI	0.896173	0.83696	D	-0.172128327332495	0.34298	1.956007	-0.333588702841019	0.27021	1.496536	0.828569575732975	0.24652	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.17	2.36	0.28258	3.367000	0.52075	3.858000	0.40123	-0.233000	0.07663	0.778000	0.29449	0.208000	0.23622	0.125000	0.19370	0.168:0.7474:0.0:0.0847	8.164	0.30373	624	0.65661	Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site|Polyketide synthase, enoylreductase domain;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site|Polyketide synthase, enoylreductase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4	978.75	100	chr4	99318097	.	C	G	978.75	.	AC=4;AF=0.4;AN=10;BaseQRankSum=-2.434;DP=759;ExcessHet=3.1439;FS=289.841;MLEAC=5;MLEAF=0.5;MQ=59.98;MQRankSum=0;QD=1.93;ReadPosRankSum=-0.36;SOR=10.885	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:67,33:100:99:.:.:186,0,1103:.	1	0	4	2
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|1:55,19:74:99:0|1:99347057_C_G:104,0,1384:99347057	0	0	6	1
chr4	99347058	99347058	C	G	exonic	ADH1C	.	nonsynonymous SNV	ADH1C:NM_000669:exon3:c.G207C:p.E69D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.83351	D	0.994	0.66517	D	0.929	0.66367	D	.	.	.	.	.	.	.	1.565	0.39561	L	.	.	.	.	.	.	0.851	0.84713	.	.	.	.	.	.	.	0.5626589	0.64875	D	.	.	.	.	.	.	.	0.427139414373	0.42328	0.8914061528926898	0.89110	.	.	0.513031244278	0.40645	T	0.026211	0.58974	T	0.22255	0.76017	D	0.0819005	0.75705	D	.	.	.	0.975102	0.94195	D	0.6913734	0.77585	0.5877092	0.76085	0.6913734	0.77587	0.5877092	0.76086	-12.015	0.84925	D	.	.	0.959	0.87947	P	.;.;.	.;.;.	2.789522	0.36664	20.3	0.99424627263076804	0.63935	0.54002	0.29509	D	AEFI	0.672285	0.63874	D	.	.	.	.	.	.	1.82240512729962E-6	0.01202	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.057018	0.00518	0	.	.	3.71	0.955	0.18725	0.069000	0.14419	-0.861000	0.07140	0.549000	0.26987	0.372000	0.25940	0.002000	0.18203	0.136000	0.19798	0.0:0.4777:0.0:0.5223	7.455	0.26434	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	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	93.45	74	chr4	99347058	.	C	G	93.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-4.309;DP=318;ExcessHet=0;FS=67.824;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=1.26;ReadPosRankSum=-0.025;SOR=5.992	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,19:74:99:0|1:99347057_C_G:104,0,1384:99347057	6	0	1	0
chr4	109531447	109531447	A	G	exonic	SEC24B	.	nonsynonymous SNV	SEC24B:NM_001042734:exon19:c.A3210G:p.I1070M,SEC24B:NM_001318086:exon19:c.A3207G:p.I1069M,SEC24B:NM_001318085:exon20:c.A3312G:p.I1104M,SEC24B:NM_006323:exon20:c.A3315G:p.I1105M,SEC24B:NM_001300813:exon21:c.A3405G:p.I1135M	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	0.0210296529449	.	.	4.141e-05	0	0	0.0002	0	1.499e-05	0	0.0001	3.23e-05	5	154602	rs772730002	1.986e-05	2.052e-05	1.636e-05	2.34e-05	0.0002	1.393e-05	1.205e-05	8.203e-05	5.787e-05	0	0	0	0.0002	0	0.0002	8.103e-06	1.657e-05	0.0001	1.314e-05	1.313e-05	1.284e-05	1.344e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.586	0.07211	T	1.0	0.01155	T	0.005	0.14184	B	0.049	0.28987	B	0.000041	0.55875	N	0.220504	0.932132	0.37619	D	-0.555	0.02337	N	-2.47	0.88997	D	-0.23	0.10656	N	0.258	0.30914	-0.9102	0.46830	T	0.307	0.67786	T	10	0.071541876	0.10559	T	0.02103	0.43733	T	0.234	0.53644	0.706	0.84236	0.362142726121	0.35819	0.44961166095944505	0.44879	0.204518158434	0.22873	0.449130415916	0.31824	T	0.108791	0.42213	T	-0.221075	0.17847	T	-0.329634	0.41510	T	0.0152323181081269	0.00335	T	0.855414	0.54290	D	0.08971114	0.20969	0.06577124	0.13380	0.08971114	0.20969	0.06577124	0.13379	-3.715	0.19540	T	.	.	0.059	0.01075	B	.;.;.	.;.;.	1.505536	0.19345	14.22	0.58653099753232707	0.06042	0.50463	0.28668	D	AEDGBI	0.139670	0.26133	N	-0.785001225735265	0.13700	0.6768013	-0.634108035106175	0.18619	0.9954419	3.64824550843103E-4	0.06707	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	5.48	-1.73	0.07646	-0.139000	0.10338	0.211000	0.15962	0.750000	0.87069	0.688000	0.28513	0.457000	0.24983	0.999000	0.91618	0.3655:0.3644:0.2701:0.0	5.987	0.18670	842	0.36989	.;.;Sec23/Sec24, helical 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	1395.46	96	chr4	109531447	.	A	G	1395.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.12;DP=281;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.54;ReadPosRankSum=1.59;SOR=0.693	GT:AD:DP:GQ:PL	0/1:38,58:96:99:1406,0,771	6	0	1	0
chr4	113357664	113357664	G	A	exonic	ANK2	.	nonsynonymous SNV	ANK2:NM_001148:exon38:c.G9046A:p.E3016K	Cardiac arrhythmia, ankyrin-B-related, Autosomal dominant;Long QT syndrome 4, Autosomal dominant	0	1512	10	0	0	10	0.00329598	.	.	.	189248	Cardiac_arrhythmia,_ankyrin-B-related|Long_QT_syndrome|not_provided|Cardiovascular_phenotype|Cardiomyopathy|not_specified	MONDO:MONDO:0010958,MedGen:C1970119,OMIM:600919,Orphanet:101016,Orphanet:768|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976|MedGen:C3661900|MedGen:CN230736|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.132	0.0721024209244	0.0006	0.000399361	0.0005	0.0002	0.0008	0	0	0.0006	0.0022	0.0002	0.0004786	74	154602	rs149963885	0.0004	0.0004	0.0004	0.0004	0.0021	0.0004	0.0004	0.0012	0.0009	5.975e-05	0.0013	0.0001	0	3.744e-05	0.0021	0.0005	0.0006	0.0002	0.0005	0.0005	0.0006	0.0005	0.0020	0.0004	0.0004	0.0014	0.0012	7.216e-05	0	0.0020	0	0	0	0.0034	0.0006	0.0014	0.0006	0.597	0.15354	T	0.893	0.03390	T	.	.	.	.	.	.	0.899457	0.08630	N	0.947352	1	0.31186	N	1.845	0.48678	L	-0.16	0.95859	T	0.06	0.06253	N	0.057	0.11769	-0.0549	0.81102	T	0.655	0.88004	D	10	0.01516819	0.00318	T	0.072102	0.71444	D	0.132	0.35948	.	.	0.558971769579	0.55558	0.10556884659296208	0.10486	0.0879859507346	0.09938	0.234280914068	0.02300	T	0.283429	0.65619	T	-0.271322	0.11609	T	-0.208064	0.53881	T	0.00557777982553571	0.00061	T	0.708229	0.32946	T	0.04583391	0.07571	0.038501814	0.03732	0.042629305	0.06500	0.03407378	0.02409	-4.449	0.30216	T	0.17444757711381306	0.22155	0.070	0.03407	B	.;.;.	.;.;.	0.795848	0.11661	8.247	0.15108112899133247	0.00358	0.43375	0.27084	N	AEFBI	0.203660	0.33016	N	-0.987000899873783	0.08880	0.4181224	-1.00596034638391	0.09654	0.4815393	0.999817862350144	0.43459	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.530356	0.10902	0	.	.	4.52	2.77	0.31614	1.507000	0.35365	2.061000	0.30394	-0.119000	0.14319	0.067000	0.21986	0.046000	0.21717	0.001000	0.02609	0.0793:0.147:0.7737:0.0	9.088	0.35755	637	0.64373	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.008152	0.002924	0.000000	0.000000	0.003049	0.000000	0.07143	1113.44	108	chr4	113357664	.	G	A	1113.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.693;DP=304;ExcessHet=0;FS=0.723;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.31;ReadPosRankSum=1.65;SOR=0.586	GT:AD:DP:GQ:PL	0/1:60,48:108:99:1124,0,1527	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|1:25,22:47:99:0|1:140563137_C_G:371,0,765:140563137	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|1:25,22:47:99:0|1:140563137_C_G:371,0,765:140563137	0	0	6	1
chr4	152974745	152974745	G	A	exonic	FHDC1	.	nonsynonymous SNV	FHDC1:NM_033393:exon11:c.G1454A:p.R485H,FHDC1:NM_001371116:exon12:c.G1454A:p.R485H	.	422	1097	3	0	0	3	0.0013655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.0115234191254	0.0003	0.00219649	0.0003	0.0024	0.0004	0	0	7.914e-05	0.0013	0.0001	0.0003881	60	154602	rs113260881	0.0002	0.0002	0.0002	0.0002	0.0049	0.0002	0.0002	0.0043	0.0041	0.0049	0.0003	0	0	0	0.0032	7.316e-05	0.0010	5.592e-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	0	0	0	4.411e-05	0.0024	0	0.41	0.10148	T	0.477	0.12002	T	0.018	0.17786	B	0.003	0.08700	B	0.463155	0.12367	N	0.797608	1	0.08975	N	1.14	0.29013	L	1.18	0.37746	T	-2.0	0.46146	N	0.046	0.01825	-1.0500	0.14397	T	0.038	0.16333	T	10	0.0039759874	0.00077	T	0.011523	0.29227	T	0.048	0.13305	.	.	0.181679512989	0.17746	0.2209745634396166	0.22012	0.146473799045	0.16529	0.205158606172	0.00622	T	0.028307	0.20534	T	-0.604513	0.00137	T	-0.646044	0.09234	T	0.00769061153382025	0.00090	T	0.777722	0.41106	T	0.040168256	0.05683	0.041759834	0.04819	0.040168256	0.05683	0.041759834	0.04819	-4.566	0.31741	T	.	.	0.071	0.03964	B	.;.	.;.	1.795033	0.22820	15.77	0.95088083620127639	0.26149	0.12531	0.17326	N	AEFDBCI	0.115285	0.22673	N	-0.740910940613436	0.14882	0.7451478	-0.735560542972974	0.16078	0.8488278	0.999951355834548	0.48110	0.634777	0.41761	0	0.59043	0.45803	0	0.643519	0.47002	0	0.542086	0.14980	0	.	.	5.75	1.06	0.19341	1.130000	0.31007	1.966000	0.29963	0.676000	0.76740	0.004000	0.16614	0.007000	0.19602	0.980000	0.58198	0.4011:0.0:0.5989:0.0	10.09	0.41614	869	0.31655	Formin, FH2 domain;Formin, FH2 domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006552	0.005051	0.013587	0.002924	0.050000	0.000000	0.000000	0.000000	0.07143	398.49	31	chr4	152974745	.	G	A	398.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.223;DP=199;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.85;ReadPosRankSum=0.099;SOR=0.804	GT:AD:DP:GQ:PL	0/1:14,17:31:99:409,0,305	6	0	1	0
chr4	154328192	154328192	C	T	exonic	DCHS2	.	nonsynonymous SNV	DCHS2:NM_001142552:exon7:c.G3919A:p.V1307I,DCHS2:NM_001358235:exon7:c.G3919A:p.V1307I	.	.	.	.	.	.	.	.	0.9987	0.774	.	3246741	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.047	.	.	.	2.487e-05	0	0	0	0	4.526e-05	0	0	1.94e-05	3	154602	rs760885306	8.273e-06	8.209e-06	4.113e-06	1.248e-05	0.0017	4.41e-06	3.49e-06	0.0009	0.0007	0	0	0	0	0	0.0017	0	3.333e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.29823	T	0.026	0.55759	D	.	.	.	.	.	.	0.001035	0.40562	N	0.105398	0.960153	0.38165	D	.	.	.	0.01	0.62459	T	-0.72	0.20358	N	0.199	0.21969	-0.9470	0.41481	T	0.152	0.48101	T	10	0.12703457	0.24155	T	0.011467	0.29127	T	0.047	0.12962	.	.	0.419957187557	0.41612	0.10235240115750502	0.10165	0.224924864697	0.25034	0.314664244652	0.12612	T	.	.	.	-0.19897	0.20952	T	-0.508097	0.21510	T	0.128782391548157	0.15269	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.21163	B	.;.	.;.	3.772985	0.54204	23.5	0.99317111012899228	0.59241	0.88996	0.49204	D	AEFDI	0.343500	0.43929	N	0.00823798597154378	0.42228	2.540509	0.211697094626493	0.50495	3.240975	0.999895284080117	0.45129	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.91	5.91	0.95240	2.864000	0.48103	4.896000	0.45813	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.9253:0.0:0.0747	12.740	0.56623	742	0.52873	Cadherin-like;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	236.63	41	chr4	154328192	.	C	T	236.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.021;DP=199;ExcessHet=0;FS=1.345;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.77;ReadPosRankSum=-1.57;SOR=0.446	GT:AD:DP:GQ:PL	0/1:28,13:41:99:247,0,739	6	0	1	0
chr4	165493234	165493234	A	G	exonic	CPE	.	nonsynonymous SNV	CPE:NM_001873:exon7:c.A1177G:p.I393V	.	425	1094	3	0	0	3	0.00136924	.	.	.	1572538	CPE-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.028	0.00777687685794	0.0004	0.000199681	0.0007	0	0.0003	0	0	0.0011	0	6.065e-05	0.0005433	84	154602	rs144687736	0.0004	0.0004	0.0004	0.0004	0.0045	0.0004	0.0004	0.0032	0.0027	0	0.0003	0.0068	5.039e-05	0	0.0045	0.0003	0.0007	5.797e-05	0.0004	0.0004	0.0005	0.0004	0.0005	0.0003	0.0003	0.0003	0.0003	4.81e-05	0	0.0003	0.0049	0.0002	0	0.0068	0.0005	0.0019	0	0.081	0.33418	T	0.144	0.33109	T	0.012	0.16265	B	0.012	0.16012	B	0.000003	0.62929	D	0.101518	0.99997	0.53665	D	0.66	0.16226	N	1.91	0.23283	T	-0.83	0.22727	N	0.198	0.21839	-1.1165	0.02566	T	0.047	0.19998	T	10	0.0066268444	0.00150	T	0.007777	0.20642	T	0.028	0.06331	.	.	0.2338531098	0.23012	0.5278158370917471	0.52705	0.475177538353	0.46692	0.480502277613	0.36126	T	0.180698	0.53213	T	-0.439782	0.01297	T	-0.503051	0.22032	T	0.0246478087686151	0.01226	T	0.869313	0.57326	D	0.21559	0.43996	0.14059058	0.33508	0.21559	0.43996	0.14059058	0.33507	-4.948	0.36270	T	.	.	0.079	0.07224	B	.	.	2.054176	0.26112	17.00	0.9937766709063609	0.61715	0.94545	0.61513	D	AEFGBCI	0.553367	0.56465	D	-0.210253940343042	0.32713	1.847843	-0.0347931087723538	0.38154	2.243935	0.999999757575563	0.74766	0.693126	0.56070	0	0.610034	0.51514	0	0.659464	0.59346	0	0.638833	0.57524	0	.	.	5.68	4.48	0.53973	3.954000	0.56414	3.425000	0.38278	0.756000	0.94297	1.000000	0.71638	0.988000	0.31051	0.794000	0.37478	0.8668:0.1332:0.0:0.0	13.194	0.59152	981	0.03995	Peptidase M14, carboxypeptidase A	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.001511	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	304.46	59	chr4	165493234	.	A	G	304.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.74;DP=233;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.16;ReadPosRankSum=1.16;SOR=0.619	GT:AD:DP:GQ:PL	0/1:42,17:59:99:315,0,956	6	0	1	0
chr4	168685497	168685497	A	T	exonic	PALLD	.	nonsynonymous SNV	PALLD:NM_001166109:exon5:c.A127T:p.T43S,PALLD:NM_001166108:exon6:c.A1273T:p.T425S,PALLD:NM_016081:exon6:c.A1273T:p.T425S	.	423	1068	30	1	0	32	0.0147601	.	.	.	133552	Pancreatic_cancer,_susceptibility_to,_1|not_provided|not_specified	MONDO:MONDO:0011739,MedGen:C1847351,OMIM:606856,Orphanet:1333|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.406	.	0.0041	0.000998403	0.0045	0.0005	0.0014	0	0.0003	0.0052	0.0055	0.0104	0.0043078	666	154602	rs140454899	0.0045	0.0046	0.0042	0.0048	0.0151	0.0044	0.0044	0.0125	0.0116	0.0006	0.0014	0.0171	0	0.0002	0.0151	0.0042	0.0046	0.0117	0.0033	0.0033	0.0033	0.0033	0.0122	0.0031	0.0030	0.0097	0.0088	0.0006	0	0.0012	0.0170	0	0.0003	0.0136	0.0048	0.0033	0.0122	0.045	0.56456	D	0.214	0.51421	T	.	.	.	.	.	.	0.005513	0.32736	U	0.000000	0.99029	0.41128	D	2.52	0.73523	M	-0.2	0.90679	T	-2.06	0.63438	N	0.483	0.52563	0.256	0.86843	D	0.705	0.89845	D	10	0.008006901	0.00182	T	.	.	.	0.406	0.71869	0.395	0.42099	0.730755731289	0.72836	0.32164990047811104	0.32077	0.224784248059	0.25013	0.341352850199	0.16640	T	0.037637	0.43041	T	-0.19593	0.21392	T	-0.0438291	0.67442	D	0.0487915056048183	0.05286	T	0.638236	0.40827	T	.	.	.	.	.	.	.	.	-6.342	0.53380	T	.	.	0.132	0.35972	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.119230	0.42106	21.5	0.99499971366976614	0.67973	0.98482	0.83244	D	AEFGBCI	0.620054	0.60526	D	0.378125725395134	0.60238	4.210615	0.368675571032923	0.59639	4.143637	0.999999989579635	0.74766	0.638212	0.43195	0	0.48864	0.07623	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.77	4.59	0.56297	4.575000	0.60619	7.045000	0.57350	0.686000	0.82685	1.000000	0.71638	1.000000	0.68203	0.677000	0.33454	0.9313:0.0:0.0687:0.0	11.751	0.51117	968	0.07033	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011078	0.000000	0.010870	0.005848	0.000000	0.000000	0.018293	0.026515	0.07143	1133.44	100	chr4	168685497	.	A	T	1133.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.695;DP=281;ExcessHet=0;FS=4.976;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.33;ReadPosRankSum=-0.769;SOR=1.182	GT:AD:DP:GQ:PL	0/1:51,49:100:99:1144,0,1138	6	0	1	0
chr4	168898668	168898668	T	C	exonic	PALLD	.	nonsynonymous SNV	PALLD:NM_001367567:exon4:c.T254C:p.M85T,PALLD:NM_001367569:exon4:c.T254C:p.M85T,PALLD:NM_001166110:exon5:c.T914C:p.M305T,PALLD:NM_001367568:exon5:c.T305C:p.M102T,PALLD:NM_001367570:exon5:c.T305C:p.M102T,PALLD:NM_001166109:exon12:c.T1229C:p.M410T,PALLD:NM_016081:exon13:c.T2375C:p.M792T,PALLD:NM_001166108:exon14:c.T2426C:p.M809T	.	.	.	.	.	.	.	.	.	.	.	4005620	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.279	0.0397687347451	.	.	8.24e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs781250247	2.07e-06	2.056e-06	4.124e-06	0	2.726e-06	5.5e-07	1.5e-07	7.3e-07	2e-07	0	0	0	0	0	0	2.726e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.486	0.12428	T	0.463	0.23707	T	.	.	.	.	.	.	0.001676	0.38326	U	0.000000	0.999968	0.81001	D	.	.	.	-0.55	0.71068	T	-2.21	0.72594	N	0.834	0.82964	-0.6935	0.60745	T	0.210	0.56933	T	10	0.30150113	0.47692	T	0.039769	0.58997	D	0.279	0.59619	.	.	0.641199583376	0.63823	0.5348204186873708	0.53407	0.808502915327	0.66620	0.717784404755	0.69723	T	0.08085	0.36460	T	0.141406	0.68459	D	-0.0346559	0.68059	D	0.576772583678845	0.35494	D	0.686731	0.31793	T	.	.	.	.	.	.	.	.	-8.267	0.67607	D	.	.	0.751	0.78309	P	.;.;.;.;.;.	.;.;.;.;.;.	4.050325	0.60035	24.2	0.84874175254793893	0.15549	0.97797	0.77204	D	AEFBI	0.776798	0.70979	D	0.146184386989402	0.48631	3.07305	0.269934385284283	0.53793	3.546451	0.99999999424337	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.55	5.55	0.83298	6.167000	0.71757	6.181000	0.54632	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.742000	0.35507	0.0:0.0:0.0:1.0	15.690	0.77200	949	0.11373	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;.;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	242.06	65	chr4	168898668	.	T	C	242.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.552;DP=371;ExcessHet=0.4139;FS=110.121;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.77;ReadPosRankSum=0.81;SOR=7.514	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:49,16:65:99:0|1:168898668_T_C:103,0,1246:168898668	4	0	2	1
chr4	168898669	168898669	G	A	exonic	PALLD	.	nonsynonymous SNV	PALLD:NM_001367567:exon4:c.G255A:p.M85I,PALLD:NM_001367569:exon4:c.G255A:p.M85I,PALLD:NM_001166110:exon5:c.G915A:p.M305I,PALLD:NM_001367568:exon5:c.G306A:p.M102I,PALLD:NM_001367570:exon5:c.G306A:p.M102I,PALLD:NM_001166109:exon12:c.G1230A:p.M410I,PALLD:NM_016081:exon13:c.G2376A:p.M792I,PALLD:NM_001166108:exon14:c.G2427A:p.M809I	.	.	.	.	.	.	.	.	.	.	.	1845107	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.201	0.0305366275154	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.841e-07	0	1.375e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.399	0.21801	T	0.479	0.55759	T	.	.	.	.	.	.	0.001676	0.38326	U	0.000000	0.999973	0.81001	D	.	.	.	-0.62	0.71895	T	-1.59	0.56787	N	0.698	0.70263	-0.5390	0.67201	T	0.308	0.67867	T	10	0.359553	0.52621	T	0.030537	0.52827	D	0.201	0.48592	.	.	0.711221558017	0.70869	0.507454384894299	0.50667	0.790969623184	0.65777	0.635476946831	0.57922	T	0.084931	0.37388	T	0.0964953	0.63912	D	-0.0991676	0.63462	T	0.720881402492523	0.41743	D	0.822018	0.50309	T	.	.	.	.	.	.	.	.	-9.058	0.70411	D	.	.	0.834	0.80161	P	.;.;.;.;.;.	.;.;.;.;.;.	4.080126	0.60688	24.2	0.96356890166856102	0.29537	0.98354	0.81929	D	AEFBI	0.905065	0.85613	D	0.294826853967169	0.55886	3.752753	0.408467051562211	0.62091	4.418906	0.999999980908939	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.55	5.55	0.83298	8.002000	0.88029	11.829000	0.97466	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.714000	0.34579	0.0:0.0:1.0:0.0	19.497	0.95071	949	0.11373	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;.;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	911.99	63	chr4	168898669	.	G	A	911.99	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-2;DP=357;ExcessHet=1.383;FS=196.096;MLEAC=4;MLEAF=0.4;MQ=60;MQRankSum=0;QD=3.88;ReadPosRankSum=0.453;SOR=8.688	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:34,29:63:99:0|1:168898668_T_C:389,0,405:168898668	2	0	3	2
chr4	176195505	176195505	T	C	exonic	SPATA4	.	nonsynonymous SNV	SPATA4:NM_144644:exon1:c.A58G:p.K20E	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.0317032853948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.28900	T	0.025	0.56192	D	0.001	0.07471	B	0.003	0.08700	B	0.768755	0.06584	N	1.141600	1	0.08975	N	1.39	0.34934	L	0.43	0.56772	T	-0.75	0.21003	N	0.156	0.16168	-0.9810	0.34771	T	0.107	0.38832	T	10	0.067307115	0.09359	T	0.031703	0.53723	D	0.058	0.16647	0.133	0.03747	0.378674557249	0.37480	0.3802740617635853	0.37942	0.138484058636	0.15620	0.395594537258	0.24454	T	0.003217	0.02616	T	-0.201907	0.20529	T	-0.527802	0.19506	T	0.03996403512181	0.03683	T	0.389061	0.09624	T	0.10643972	0.25167	0.07896605	0.17735	0.10643972	0.25167	0.07896605	0.17734	-3.925	0.22677	T	.	.	0.089	0.12084	B	.	.	0.738880	0.11084	7.732	0.97079037114924172	0.32272	0.00293	0.01568	N	ALL	0.044904	0.07281	N	-0.953675135263571	0.09610	0.4555862	-1.00450997110567	0.09686	0.4833178	0.999999999962052	0.74766	0.437478	0.07067	0	0.606814	0.50340	0	0.606814	0.37721	0	0.56214	0.19341	0	.	.	4.42	0.604	0.16725	-0.100000	0.10959	-1.583000	0.05121	0.609000	0.47794	0.000000	0.06391	0.000000	0.08366	0.040000	0.14268	0.0:0.2142:0.2116:0.5742	3.707	0.07936	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	.	.	.	.	.	.	.	.	0.07143	1179.44	110	chr4	176195505	.	T	C	1179.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.701;DP=326;ExcessHet=0;FS=1.556;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.72;ReadPosRankSum=0.278;SOR=0.519	GT:AD:DP:GQ:PL	0/1:57,53:110:99:1190,0,1399	6	0	1	0
chr5	1293652	1293652	G	A	exonic	TERT	.	nonsynonymous SNV	TERT:NM_001193376:exon2:c.C1234T:p.H412Y,TERT:NM_198253:exon2:c.C1234T:p.H412Y	.	0	1520	2	0	0	2	0.000657462	.	.	.	27769	Autosomal_recessive_dyskeratosis_congenita_4|Acute_myeloid_leukemia|Melanoma,_cutaneous_malignant,_susceptibility_to,_9|Pulmonary_fibrosis_and/or_bone_marrow_failure,_Telomere-related,_1|Dyskeratosis_congenita,_autosomal_dominant_2|Aplastic_anemia|not_provided|not_specified|Idiopathic_Pulmonary_Fibrosis|Dyskeratosis_congenita	MONDO:MONDO:0027353,MedGen:C3151444|Human_Phenotype_Ontology:HP:0001914,Human_Phenotype_Ontology:HP:0004808,Human_Phenotype_Ontology:HP:0004843,Human_Phenotype_Ontology:HP:0005516,Human_Phenotype_Ontology:HP:0006724,Human_Phenotype_Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|MONDO:MONDO:0014056,MedGen:C3554574,OMIM:615134,Orphanet:618|MONDO:MONDO:0013878,MedGen:C3553617,OMIM:614742,Orphanet:88|MONDO:MONDO:0013521,MedGen:C3151443,OMIM:613989|Human_Phenotype_Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135,Orphanet:182040,Orphanet:88|MedGen:C3661900|MedGen:CN169374|MeSH:D054990,MedGen:C1800706|MONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550,Orphanet:1775	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.672	.	0.0031	0.000599042	0.0063	0.0011	0	0	0.0119	0.0153	0	0.0004	0.0022703	351	154602	rs34094720	0.0047	0.0046	0.0048	0.0045	0.0052	0.0046	0.0045	0.0051	0.0050	0.0006	0.0010	0.0187	0	0.0011	0.0016	0.0052	0.0055	0.0006	0.0031	0.0031	0.0033	0.0028	0.0049	0.0028	0.0028	0.0045	0.0043	0.0009	0	0.0010	0.0170	0	0.0012	0	0.0049	0.0028	0.0004	0.65	0.09291	T	0.063	0.69154	T	0.998	0.73220	D	0.897	0.63631	P	0.017468	0.27716	N	0.406844	0.785703	0.29283	N	2.745	0.80253	M	-4.1	0.96659	D	-2.11	0.50830	N	0.435	0.47395	0.562	0.91397	D	0.883	0.96129	D	10	0.017623723	0.00377	T	.	.	.	0.672	0.87868	.	.	0.946339547969	0.94577	0.6373800739135487	0.63672	1.3455023119	0.83972	0.540219426155	0.44476	T	0.401299	0.75864	T	-0.0616391	0.42650	T	0.139499	0.79514	D	0.021857680025102	0.00892	T	0.846715	0.52677	T	0.06016722	0.12314	0.07316676	0.15868	0.053103577	0.10001	0.08059538	0.18244	-7.025	0.55244	T	0.3458976010089355	0.44340	0.080	0.30686	B	.;.	.;.	2.489896	0.32122	18.95	0.99560553144639574	0.71769	0.50695	0.28723	D	AEFDBCI	0.171312	0.29827	N	-0.280039008071305	0.29920	1.663548	-0.330823205496057	0.27109	1.501964	0.999666362284758	0.41534	0.646311	0.45356	0	0.541556	0.11502	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	4.38	2.32	0.27895	0.551000	0.23068	3.475000	0.38608	0.665000	0.62972	0.219000	0.24524	1.000000	0.68203	0.064000	0.16252	0.1098:0.0:0.6084:0.2818	6.622	0.22004	970	0.06235	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001538	0.000000	0.000000	0.000000	0.000000	0.008772	0.003145	0.003817	0.07143	905.46	53	chr5	1293652	.	G	A	905.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.118;DP=234;ExcessHet=0;FS=1.087;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.08;ReadPosRankSum=0.587;SOR=0.596	GT:AD:DP:GQ:PL	0/1:20,33:53:99:916,0,447	6	0	1	0
chr5	7862999	7862999	-	A	splicing	FASTKD3	NM_024091:exon4:c.1525-2->T	.	.	.	430	1067	24	1	0	26	0.012037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0070	0.00219649	0.0050	0.0019	0.0027	0	0.0011	0.0066	0.0066	0.0059	0.000207	32	154602	rs546325772	0.0072	0.0072	0.0072	0.0071	0.0116	0.0071	0.0070	0.0094	0.0086	0.0013	0.0029	0.0020	0	0.0027	0.0116	0.0082	0.0069	0.0066	0.0047	0.0047	0.0048	0.0046	0.0075	0.0044	0.0043	0.0070	0.0068	0.0013	0	0.0037	0.0020	0	0.0035	0.0272	0.0075	0.0076	0.0050	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	262.25	13	chr5	7862999	.	T	TA	262.25	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.805;DP=103;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=20.17;ReadPosRankSum=-0.085;SOR=0.627	GT:AD:DP:GQ:PL	0/1:3,10:13:54:272,0,54	5	0	1	1
chr5	14487917	14487917	C	T	exonic	TRIO	.	nonsynonymous SNV	TRIO:NM_007118:exon48:c.C7289T:p.P2430L	Mental retardation, autosomal dominant 44, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.342	0.455920412933	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1236350732	1.081e-05	1.3e-05	7.115e-06	1.461e-05	1.395e-05	6.49e-06	5.15e-06	8.38e-06	6.64e-06	0	0	0	0	0	0	1.395e-05	0	0	6.58e-06	6.567e-06	1.286e-05	0	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	0.268	0.16144	T	0.137	0.33894	T	0.758	0.43456	P	0.224	0.37970	B	0.008090	0.01192	N	2.583880	1	0.08975	N	0.345	0.11182	N	-0.04	0.63240	T	-0.65	0.18877	N	0.141	0.14054	-0.9425	0.42218	T	0.119	0.41604	T	10	0.114810884	0.21613	T	0.45592	0.94426	D	0.342	0.66392	0.183	0.09131	0.574979806298	0.57166	0.15894231900309388	0.15815	0.309576127487	0.33265	0.610240459442	0.54350	T	0.070715	0.34028	T	-0.0622665	0.42553	T	-0.327218	0.41777	T	0.0343046858906746	0.02689	T	0.725127	0.33902	T	0.038252506	0.05060	0.018167157	0.00048	0.038252506	0.05060	0.018167157	0.00048	-4.353	0.28914	T	.	.	0.089	0.12371	B	.;.	.;.	0.786779	0.11572	8.164	0.82981134865287309	0.14478	0.41833	0.26745	N	AEFDBCI	0.177660	0.30491	N	-1.00333506529863	0.08534	0.4005112	-1.01423619422094	0.09472	0.4714191	0.998544190072355	0.37167	0.741868	0.97996	0	0.643519	0.57511	0	0.774882	0.98623	0	0.562822	0.20929	0	.	.	4.75	0.787	0.17740	1.137000	0.31091	1.036000	0.23518	-0.305000	0.06155	0.448000	0.26550	0.008000	0.19753	0.005000	0.06747	0.344:0.5644:0.0916:0.0	8.253	0.30900	739	0.53257	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	301.53	23	chr5	14487917	.	C	T	301.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.377;DP=187;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.11;ReadPosRankSum=1.45;SOR=0.765	GT:AD:DP:GQ:PL	0/1:9,14:23:99:312,0,169	6	0	1	0
chr5	31302221	31302221	A	G	exonic	CDH6	.	nonsynonymous SNV	CDH6:NM_001362435:exon6:c.A922G:p.T308A,CDH6:NM_004932:exon6:c.A922G:p.T308A	.	429	1088	5	0	0	5	0.00229253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.00648939545914	.	0.000798722	0.0005	0	0	0	0	0	0	0.0039	0.0004463	69	154602	rs537944995	0.0002	0.0002	0.0001	0.0002	0.0026	0.0002	0.0001	0.0023	0.0022	5.974e-05	0	0	2.519e-05	0	0.0016	1.799e-06	0.0002	0.0026	9.191e-05	9.186e-05	1.285e-05	0.0002	0.0027	5.523e-05	4.361e-05	0.0016	0.0013	2.405e-05	0	0	0	0	0	0	0	0	0.0027	0.237	0.18308	T	0.599	0.09175	T	0.0	0.02946	B	0.002	0.06944	B	0.018225	0.27531	N	0.436743	0.745185	0.29694	N	0.735	0.18861	N	0.72	0.50976	T	-0.39	0.14978	N	0.105	0.10483	-1.0287	0.20876	T	0.080	0.31615	T	10	0.0067118704	0.00152	T	0.006489	0.17100	T	0.049	0.13647	0.389	0.41115	0.416446257289	0.41261	0.44008147164325045	0.43925	0.510312560548	0.49147	0.393313586712	0.24135	T	0.006859	0.46411	T	-0.501099	0.00564	T	-0.494676	0.22902	T	0.0392996306137806	0.03564	T	0.766023	0.39759	T	0.06511321	0.13883	0.06819117	0.14206	0.06511321	0.13883	0.06819117	0.14206	-3.887	0.22107	T	.	.	0.092	0.13597	B	.;.	.;.	3.283868	0.45002	22.0	0.97617113747127637	0.34943	0.90214	0.51215	D	AEFBI	0.254028	0.37342	N	-0.155428179064938	0.35004	2.005158	0.0640144491805223	0.42753	2.591604	0.774552655351338	0.23730	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.79	4.65	0.57626	4.335000	0.59081	7.889000	0.72943	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.9292:0.0:0.0708:0.0	11.294	0.48502	667	0.61242	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	491.49	36	chr5	31302221	.	A	G	491.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.044;DP=219;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.65;ReadPosRankSum=-0.931;SOR=0.663	GT:AD:DP:GQ:PL	0/1:15,21:36:99:502,0,375	6	0	1	0
chr5	32058097	32058097	A	C	exonic	PDZD2	.	nonsynonymous SNV	PDZD2:NM_178140:exon12:c.A2194C:p.N732H	.	432	1078	11	1	0	13	0.00599355	.	.	.	3199748	not_specified|PDZD2-related_disorder	MedGen:CN169374|.	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.118	0.00724430017028	0.0005	0.000798722	0.0006	0.0002	0.0009	0	0	0.0007	0.0011	0.0007	0.0005821	90	154602	rs144760557	0.0005	0.0005	0.0005	0.0005	0.0124	0.0005	0.0004	0.0101	0.0092	0.0009	0.0009	0.0017	0	0	0.0124	0.0004	0.0012	0.0006	0.0004	0.0004	0.0004	0.0005	0.0013	0.0003	0.0003	0.0009	0.0007	0.0002	0	0.0013	0.0009	0	0	0.0068	0.0004	0.0009	0.0006	0.079	0.33753	T	0.105	0.38016	T	0.241	0.30888	B	0.157	0.34536	B	0.002945	0.35672	N	0.128007	0.993024	0.41813	D	0.57	0.15267	N	2.31	0.16794	T	-3.05	0.62976	D	0.327	0.36779	-1.1131	0.02817	T	0.037	0.16160	T	10	0.023048103	0.00592	T	0.007244	0.19198	T	0.118	0.32913	.	.	0.570517846727	0.56718	0.5790963326000074	0.57838	0.660348290048	0.58863	0.796293973923	0.81398	T	0.331614	0.70167	T	-0.513425	0.00480	T	-0.613365	0.11713	T	0.075518379197342	0.09405	T	0.717128	0.32987	T	0.124024905	0.29109	0.14983214	0.35361	0.124024905	0.29109	0.14983214	0.35360	-6.74	0.52111	T	.	.	0.094	0.14293	B	.	.	3.790175	0.54550	23.5	0.99397428634644747	0.62656	0.90870	0.52417	D	AEFGBCI	0.511282	0.53998	D	-0.164528674797299	0.34619	1.978162	-0.0849066015028079	0.36013	2.090508	0.999994485654361	0.74766	0.533608	0.22052	0	0.573888	0.26702	0	0.602189	0.34648	0	0.638833	0.57524	0	.	.	6.06	2.06	0.25932	4.302000	0.58887	5.828000	0.50139	-0.193000	0.09282	1.000000	0.71638	1.000000	0.68203	0.966000	0.53164	0.5845:0.4155:0.0:0.0	12.056	0.52836	840	0.37365	PDZ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.015106	0.025253	0.021739	0.017544	0.050000	0.034483	0.000000	0.000000	0.07143	243.83	21	chr5	32058097	.	A	C	243.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.703;DP=169;ExcessHet=0;FS=5.076;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.61;ReadPosRankSum=-0.565;SOR=0.124	GT:AD:DP:GQ:PL	0/1:11,10:21:99:254,0,349	6	0	1	0
chr5	38933380	38933380	C	G	exonic	OSMR	.	nonsynonymous SNV	OSMR:NM_001323505:exon18:c.C2876G:p.P959R,OSMR:NM_001323506:exon18:c.C2879G:p.P960R,OSMR:NM_003999:exon18:c.C2876G:p.P959R	Amyloidosis, primary localized cutaneous, 1, Autosomal dominant	1	1361	149	11	0	171	0.0591082	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	.	0.0052	0.00838658	0.0113	0.0013	0.0119	0.0001	0.0029	0.0081	0.0198	0.0388	0.0100775	1558	154602	rs34080825	0.0081	0.0081	0.0068	0.0095	0.0468	0.0080	0.0079	0.0422	0.0404	0.0009	0.0093	0.0258	0.0001	0.0022	0.0468	0.0056	0.0099	0.0408	0.0065	0.0065	0.0060	0.0071	0.0330	0.0062	0.0060	0.0289	0.0273	0.0011	0	0.0092	0.0248	0.0004	0.0040	0.0646	0.0070	0.0095	0.0330	0.061	0.37118	T	0.099	0.38891	T	0.845	0.46707	P	0.467	0.46683	P	0.396557	0.04509	N	1.368040	1	0.08975	N	1.78	0.46185	L	1.06	0.39781	T	-1.96	0.45404	N	0.081	0.05670	-1.0181	0.24334	T	0.066	0.27052	T	10	0.0029414892	0.00047	T	.	.	.	0.053	0.14996	.	.	.	.	0.14100321930981063	0.14023	0.237616639877	0.26298	0.225426003337	0.01647	T	0.135175	0.46684	T	-0.569761	0.00222	T	-0.56263	0.16131	T	0.0126930513815079	0.00213	T	0.326967	0.06756	T	0.039785415	0.05556	0.073263034	0.15901	0.035993196	0.04343	0.073263034	0.15901	-4.86	0.35282	T	.	.	0.086	0.10835	B	.	.	1.366445	0.17758	13.35	0.93641793816937802	0.23520	0.23376	0.22056	N	AEFDGBI	0.077479	0.15610	N	-0.35203401344841	0.27197	1.490269	-0.476864511363895	0.22792	1.23975	0.99880471190545	0.37711	0.614807	0.35715	0	0.588015	0.36545	0	0.616094	0.41390	0	0.636168	0.56350	0	.	.	5.79	2.64	0.30504	0.371000	0.20182	0.714000	0.20960	-0.175000	0.10903	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.7212:0.0:0.2788	8.229	0.30746	261	0.89765	.	.	.	.	.	.	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	0.029204	0.030303	0.021739	0.029240	0.000000	0.017241	0.048780	0.041667	0.1429	2554.29	89	chr5	38933380	.	C	G	2554.29	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.692;DP=385;ExcessHet=0.3476;FS=0.482;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=11.01;ReadPosRankSum=0.332;SOR=0.75	GT:AD:DP:GQ:PL	0/1:54,35:89:99:740,0,1362	5	0	2	0
chr5	42711274	42711274	G	A	exonic	GHR	.	nonsynonymous SNV	GHR:NM_001242460:exon5:c.G620A:p.R207H,GHR:NM_001242406:exon6:c.G686A:p.R229H,GHR:NM_001242462:exon6:c.G686A:p.R229H,GHR:NM_000163:exon7:c.G686A:p.R229H,GHR:NM_001242399:exon7:c.G707A:p.R236H,GHR:NM_001242402:exon7:c.G686A:p.R229H,GHR:NM_001242403:exon7:c.G686A:p.R229H,GHR:NM_001242404:exon7:c.G686A:p.R229H,GHR:NM_001242405:exon7:c.G686A:p.R229H,GHR:NM_001242400:exon8:c.G686A:p.R229H,GHR:NM_001242401:exon8:c.G686A:p.R229H	Growth hormone insensitivity, partial;Increased responsiveness to growth hormone (3);Laron dwarfism, Autosomal recessive	1	1499	22	0	0	22	0.00728477	.	.	.	265893	not_provided|not_specified|Short_stature_due_to_partial_GHR_deficiency|Laron-type_isolated_somatotropin_defect	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0011420,MedGen:C1858656,OMIM:604271,Orphanet:314802,Orphanet:314811|MONDO:MONDO:0009877,MedGen:C0271568,OMIM:262500,Orphanet:633	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.808	0.0891640989754	0.0011	0.000798722	0.0013	0.0007	0.0013	0	0	0.0011	0.0022	0.0038	0.0011966	185	154602	rs6177	0.0008	0.0009	0.0007	0.0010	0.0080	0.0008	0.0008	0.0062	0.0055	0.0009	0.0014	0.0015	0	0	0.0080	0.0006	0.0016	0.0035	0.0008	0.0008	0.0007	0.0009	0.0017	0.0007	0.0006	0.0008	0.0006	0.0006	0.0011	0.0010	0.0023	0	9.427e-05	0.0102	0.0008	0.0024	0.0017	0.0	0.91255	D	0.318	0.76473	T	0.999	0.77913	D	0.703	0.54270	P	0.000004	0.62929	D	0.059628	1	0.81001	D	1.8	0.47472	L	-3.4	0.94260	D	-2.04	0.46842	N	0.533	0.63883	0.668	0.92766	D	0.814	0.93719	D	10	0.017771393	0.00381	T	0.089164	0.75273	D	0.808	0.93777	.	.	0.962138920921	0.96173	0.5664631436302645	0.56574	0.0555361329645	0.06140	0.433992952108	0.29755	T	0.410939	0.76553	T	0.124364	0.66809	D	0.404074	0.92243	D	0.0636626687296192	0.07732	T	0.977402	0.93081	D	0.6612151	0.75964	0.4502998	0.68010	0.6490725	0.75316	0.49604318	0.70857	-10.171	0.74929	D	0.5075309644939106	0.58176	0.183	0.48551	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.881359	0.80062	27.2	0.99934152013492705	0.99535	0.94192	0.60392	D	AEFI	0.757768	0.69662	D	0.565633455196316	0.71040	5.590686	0.577758325565778	0.73350	5.955826	0.999580486071164	0.40607	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.21	5.21	0.72005	4.957000	0.63358	7.492000	0.59381	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.767	0.91844	496	0.76301	Fibronectin type III|Long hematopoietin receptor, single chain, conserved site|Fibronectin type III|Fibronectin type III;Fibronectin type III|Long hematopoietin receptor, single chain, conserved site|Fibronectin type III|Fibronectin type III;Fibronectin type III|Long hematopoietin receptor, single chain, conserved site|Fibronectin type III|Fibronectin type III;Fibronectin type III|Long hematopoietin receptor, single chain, conserved site|Fibronectin type III|Fibronectin type III;Fibronectin type III|Long hematopoietin receptor, single chain, conserved site|Fibronectin type III|Fibronectin type III;Fibronectin type III|Long hematopoietin receptor, single chain, conserved site|Fibronectin type III|Fibronectin type III;Fibronectin type III|Long hematopoietin receptor, single chain, conserved site|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Long hematopoietin receptor, single chain, conserved site|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008056	0.000000	0.014946	0.005848	0.050000	0.000000	0.006098	0.000000	0.1429	2076.65	74	chr5	42711274	.	G	A	2076.65	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.46;DP=326;ExcessHet=0.3476;FS=3.317;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=11.11;ReadPosRankSum=-0.79;SOR=0.62	GT:AD:DP:GQ:PL	0/1:38,36:74:99:763,0,823	5	0	2	0
chr5	43556686	43556686	A	-	exonic	PAIP1	.	frameshift deletion	PAIP1:NM_006451:exon1:c.161delT:p.L54Rfs*41	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	34.79	12	chr5	43556685	.	CA	C	34.79	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.677;DP=109;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=59.09;MQRankSum=0.671;QD=2.9;ReadPosRankSum=-1.614;SOR=0.693	GT:AD:DP:GQ:PL	0/1:10,2:12:45:45,0,368	6	0	1	0
chr5	55916773	55916773	G	A	exonic	IL31RA	.	nonsynonymous SNV	IL31RA:NM_001242636:exon15:c.G1891A:p.E631K,IL31RA:NM_001242637:exon15:c.G1948A:p.E650K,IL31RA:NM_139017:exon15:c.G1948A:p.E650K,IL31RA:NM_001242639:exon16:c.G1522A:p.E508K,IL31RA:NM_001242638:exon17:c.G1891A:p.E631K	Amyloidosis, primary localized cutaneous, 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	721483	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.093	.	0.0046	.	0.0013	0.0144	0.0003	0	0	2.997e-05	0.0022	0	0.0010673	165	154602	rs116001952	0.0005	0.0005	0.0005	0.0004	0.0153	0.0004	0.0004	0.0142	0.0138	0.0153	0.0006	0	0	0	0.0014	2.158e-05	0.0014	2.319e-05	0.0041	0.0041	0.0041	0.0040	0.0141	0.0038	0.0037	0.0132	0.0128	0.0141	0	0.0014	0	0	0	0	1.47e-05	0.0052	0.0002	0.106	0.31532	T	0.174	0.30729	T	0.225	0.30426	B	0.048	0.24975	B	0.389014	0.04466	N	1.347010	0.999996	0.08975	N	.	.	.	1.14	0.49358	T	-0.64	0.19297	N	0.247	0.32591	-0.9545	0.40185	T	0.093	0.35336	T	10	0.0035865307	0.00065	T	.	.	.	0.093	0.26882	.	.	0.0954503805726	0.09146	.	.	0.139291605927	0.15699	0.345459282398	0.17251	T	.	.	.	-0.520091	0.00440	T	-0.506225	0.21703	T	0.00437929097208699	0.00047	T	0.69563	0.30512	T	.	.	.	.	.	.	.	.	-3.546	0.18031	T	.	.	0.100	0.22428	B	.;.;.;.;.;.	.;.;.;.;.;.	2.591687	0.33622	19.39	0.99645285966178254	0.76943	0.53643	0.29421	D	AEFBI	0.088496	0.17940	N	-0.270429930073421	0.30295	1.687891	-0.207978134658715	0.31248	1.766679	0.999131278788209	0.38535	0.554377	0.28877	0	0.547309	0.14657	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.78	3.89	0.44098	2.027000	0.40699	4.051000	0.41508	0.676000	0.76740	0.936000	0.32490	1.000000	0.68203	0.061000	0.16044	0.0872:0.1661:0.7466:0.0	7.563	0.27027	907	0.22727	.;.;.;.;.;.	.	.	.	.	.	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	0.002014	0.000000	0.002717	0.002924	0.000000	0.008621	0.000000	0.000000	0.07143	1062.53	84	chr5	55916773	.	G	A	1062.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.03;DP=274;ExcessHet=0;FS=1.797;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=0.982;SOR=0.976	GT:AD:DP:GQ:PL	0/1:39,45:84:99:1073,0,831	6	0	1	0
chr5	56911377	56911377	A	-	exonic	SETD9	.	frameshift deletion	SETD9:NM_001171990:exon2:c.307delA:p.R103Dfs*29,SETD9:NM_001323018:exon2:c.229delA:p.R77Dfs*29,SETD9:NM_001323019:exon2:c.307delA:p.R103Dfs*29,SETD9:NM_001323020:exon2:c.229delA:p.R77Dfs*29,SETD9:NM_153706:exon2:c.307delA:p.R103Dfs*29	.	433	1084	5	0	0	5	0.00230097	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.000798722	0.0002	9.694e-05	8.657e-05	0	0	0.0002	0.0011	0.0007	0.0002199	34	154602	rs575788115	0.0002	0.0002	0.0001	0.0002	0.0014	0.0002	0.0001	0.0007	0.0005	2.991e-05	0.0001	7.668e-05	0	3.746e-05	0.0014	0.0001	0.0003	0.0007	0.0001	0.0001	0.0001	0.0001	0.0008	7.573e-05	6.278e-05	0.0003	0.0002	4.813e-05	0	0.0001	0.0003	0.0002	0	0	0.0001	0.0005	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002518	0.000000	0.002717	0.000000	0.000000	0.008621	0.006098	0.000000	0.08333	1189.23	72	chr5	56911376	.	CA	C	1189.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.662;DP=276;ExcessHet=0;FS=1.897;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.52;ReadPosRankSum=-0.017;SOR=0.827	GT:AD:DP:GQ:PL	0/1:37,35:72:99:1199,0,1277	5	0	1	1
chr5	66054451	66054451	C	T	exonic	ERBIN	.	nonsynonymous SNV	ERBIN:NM_001006600:exon21:c.C3133T:p.H1045Y,ERBIN:NM_001253697:exon21:c.C3133T:p.H1045Y,ERBIN:NM_001253698:exon21:c.C3133T:p.H1045Y,ERBIN:NM_001253699:exon21:c.C3133T:p.H1045Y,ERBIN:NM_001253701:exon21:c.C3121T:p.H1041Y,ERBIN:NM_018695:exon21:c.C3133T:p.H1045Y	.	436	1046	39	1	0	41	0.0192218	.	.	.	699142	ERBIN-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.036	.	0.0055	0.00319489	0.0071	0.0012	0.0034	0.0001	0.0201	0.0092	0.0143	0.0025	0.0069275	1071	154602	rs142496054	0.0080	0.0080	0.0081	0.0080	0.0130	0.0079	0.0079	0.0106	0.0098	0.0014	0.0049	0.0027	2.519e-05	0.0182	0.0130	0.0086	0.0075	0.0041	0.0070	0.0070	0.0063	0.0077	0.0103	0.0067	0.0065	0.0090	0.0085	0.0011	0.0011	0.0103	0.0029	0.0004	0.0205	0.0102	0.0087	0.0076	0.0041	0.202	0.26192	T	0.936	0.02725	T	0.001	0.38076	B	0.001	0.44752	B	0.000430	0.44522	D	0.233896	0.968849	0.81001	D	.	.	.	1.4	0.37230	T	-1.06	0.27669	N	0.21	0.34767	-1.0818	0.07003	T	0.057	0.23904	T	10	0.0052889585	0.00116	T	.	.	.	0.036	0.09122	.	.	0.043077524339	0.03247	0.23617138195608345	0.23532	0.17845421502	0.20078	0.520014822483	0.41629	T	0.026122	0.19398	T	-0.44926	0.01141	T	-0.408712	0.32375	T	0.0327549083695503	0.02430	T	0.949755	0.80719	D	0.059305694	0.12037	0.077869184	0.17388	0.059305694	0.12036	0.077869184	0.17387	-3.511	0.24236	T	.	.	0.121	0.33573	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.045860	0.40854	21.2	0.95663696698175138	0.27496	0.97922	0.78147	D	AEFBI	0.701588	0.65823	D	-0.105461591648689	0.37153	2.157553	0.0248738627495247	0.40873	2.446292	0.999440304113357	0.39736	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.67	3.8	0.42887	4.455000	0.59813	4.017000	0.41215	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.962000	0.52141	0.134:0.7981:0.0:0.0679	11.158	0.47723	804	0.43891	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.015106	0.005051	0.016304	0.008772	0.000000	0.008621	0.021341	0.007576	0.07143	1160.45	91	chr5	66054451	.	C	T	1160.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.298;DP=300;ExcessHet=0;FS=0.784;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.75;ReadPosRankSum=-1.386;SOR=0.747	GT:AD:DP:GQ:PL	0/1:47,44:91:99:1171,0,1205	6	0	1	0
chr5	75146001	75146001	A	G	exonic	ANKRD31	.	nonsynonymous SNV	ANKRD31:NM_001164443:exon14:c.T3410C:p.I1137T,ANKRD31:NM_001372053:exon14:c.T3410C:p.I1137T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.208	0.0320185438598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.067e-06	5.908e-05	3.014e-06	3.121e-06	3.869e-06	7.2e-07	4.8e-07	9.1e-07	6.1e-07	0	0	0	0	0	0	3.869e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.34444	T	0.08	0.76473	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.705	0.44259	L	0.06	0.61798	T	0.5	0.02945	N	0.144	0.33904	-0.9725	0.36670	T	0.133	0.44622	T	7	0.07310486	0.11001	T	0.032019	0.53954	D	0.208	0.49714	0.399	0.42753	0.0666544352282	0.05500	0.1179940654002401	0.11726	.	.	0.431646108627	0.29434	T	6.79E-4	0.00299	T	-0.0895452	0.38151	T	-0.366402	0.37308	T	0.0622141301128149	0.07513	T	0.622038	0.23930	T	0.046649564	0.07844	0.065477386	0.13277	0.046649564	0.07844	0.065477386	0.13277	-3.908	0.22423	T	.	.	0.159	0.35204	B	.;.	.;.	-0.613964	0.01534	0.099	0.95776924258942753	0.27794	0.03341	0.08421	N	AEFI	0.072667	0.14510	N	-0.919827703521214	0.10379	0.4956785	-1.06350639893966	0.08427	0.4143377	9.32791732047118E-5	0.04910	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.14	-2.42	0.06164	-1.019000	0.03733	-0.266000	0.10387	-0.113000	0.14837	0.000000	0.06391	0.000000	0.08366	0.627000	0.32078	0.406:0.1456:0.1685:0.28	0.344	0.00315	845	0.36510	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	99.38	34	chr5	75146001	.	A	G	99.38	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.283;DP=293;ExcessHet=0;FS=51.266;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=2.92;ReadPosRankSum=-0.385;SOR=5.957	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:23,11:34:99:0|1:75146000_A_G:109,0,516:75146000	5	0	1	1
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	1/0:0,9:14:99:583,151,224	4	0	3	0
chr5	87363477	87363477	A	G	exonic	RASA1	.	nonsynonymous SNV	RASA1:NM_002890:exon11:c.A1583G:p.Y528C,RASA1:NM_022650:exon11:c.A1052G:p.Y351C	Basal cell carcinoma, somatic;Capillary malformation-arteriovenous malformation, Autosomal dominant;Parkes Weber syndrome	4	1489	29	0	0	29	0.00964416	.	.	.	304960	not_provided|Capillary_malformation-arteriovenous_malformation_1|Parkes_Weber_syndrome|RASA1-related_disorder|not_specified|Capillary_malformation-arteriovenous_malformation_syndrome|Cardiovascular_phenotype	MedGen:C3661900|MONDO:MONDO:0020783,MedGen:C4747394,OMIM:608354,Orphanet:137667,Orphanet:90307|MedGen:C5574870,Orphanet:2346|.|MedGen:CN169374|MONDO:MONDO:0012016,MedGen:C1842180,OMIM:PS608354,Orphanet:137667|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.944	0.448378663713	0.0003	0.000998403	0.0016	0	0.0005	0.0002	0	0.0006	0	0.0093	0.0014683	227	154602	rs145752649	0.0012	0.0012	0.0010	0.0015	0.0099	0.0012	0.0012	0.0094	0.0091	0.0004	0.0005	0.0004	5.057e-05	0	0.0066	0.0007	0.0013	0.0099	0.0007	0.0007	0.0005	0.0008	0.0081	0.0006	0.0005	0.0061	0.0054	9.63e-05	0	0.0009	0.0003	0	0	0.0034	0.0007	0.0005	0.0081	0.001	0.78490	D	0.003	0.76473	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.11	0.58565	M	-0.94	0.75325	T	-6.18	0.90294	D	0.807	0.92550	0.162	0.85267	D	0.549	0.83460	D	10	0.03353712	0.01533	T	0.448379	0.94296	D	0.944	0.98851	.	.	0.940034697642	0.93941	0.7033443205072765	0.70275	2.04020034352	0.94242	0.915937066078	0.97999	D	0.816096	0.95454	D	0.0689449	0.60721	T	0.332939	0.89631	D	0.0660348523251774	0.08083	T	0.983002	0.95536	D	0.7093577	0.78572	0.64056164	0.79001	0.70451236	0.78305	0.60470366	0.77024	-9.339	0.69852	D	.	.	0.516	0.65297	A	.;.;.;.	.;.;.;.	4.860222	0.79530	27.1	0.99825743831912561	0.90764	0.98749	0.86360	D	AEFBI	0.926134	0.90676	D	0.781349756435156	0.84924	8.426184	0.771408940963608	0.87744	9.329597	0.999999992526965	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.58	5.58	0.84361	9.283000	0.95023	9.388000	0.80560	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	1.0:0.0:0.0:0.0	15.754	0.77779	608	0.67185	Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain;.;.;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.005544	0.000000	0.000000	0.005882	0.000000	0.017241	0.003049	0.018939	0.07143	239.63	29	chr5	87363477	.	A	G	239.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.415;DP=207;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.26;ReadPosRankSum=1.89;SOR=0.836	GT:AD:DP:GQ:PL	0/1:16,13:29:99:250,0,340	6	0	1	0
chr5	95464607	95464607	T	G	exonic	TTC37	.	stoploss	TTC37:NM_014639:exon43:c.A4695C:p.X1565Y	Trichohepatoenteric syndrome 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1450079	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	1.049e-05	0	0.0001	0	0	0	0	0	6.5e-06	1	154602	rs751183327	1.029e-05	1.026e-05	6.825e-06	1.379e-05	0.0001	6.18e-06	4.9e-06	6.281e-05	4.782e-05	0	8.959e-05	0	0	0	0	0	1.661e-05	0.0001	6.569e-06	6.567e-06	0	1.345e-05	6.546e-05	0	0	.	.	0	0	6.546e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.005	0.00034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.363101	0.03958	T	-0.561703	0.16218	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	0.052758	0.04660	1.311	0.81474490932239829	0.13703	0.30293	0.24045	N	AEBI	.	.	.	0.283823954614775	0.55327	3.696935	-0.0437265186462775	0.37763	2.215483	0.0594952281876477	0.15164	0.322412	0.05557	0	0.31918	0.05746	0	0.292756	0.05521	0	0.370666	0.05837	0	0.181892	0.29534	5.85	0.907	0.18450	0.067000	0.14378	-0.178000	0.11160	-0.121000	0.13915	0.004000	0.16614	0.000000	0.08366	0.955000	0.50612	0.0:0.372:0.0:0.628	9.371	0.37415	622	0.65860	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.07143	971.44	81	chr5	95464607	.	T	G	971.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.293;DP=266;ExcessHet=0;FS=0.833;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.99;ReadPosRankSum=0.218;SOR=0.598	GT:AD:DP:GQ:PL	0/1:37,44:81:99:982,0,808	6	0	1	0
chr5	119499449	119499449	T	C	exonic	HSD17B4	.	nonsynonymous SNV	HSD17B4:NM_001199292:exon12:c.T1051C:p.S351P,HSD17B4:NM_000414:exon13:c.T1105C:p.S369P,HSD17B4:NM_001292028:exon13:c.T685C:p.S229P,HSD17B4:NM_001374497:exon13:c.T1096C:p.S366P,HSD17B4:NM_001374498:exon13:c.T1105C:p.S369P,HSD17B4:NM_001374499:exon13:c.T778C:p.S260P,HSD17B4:NM_001374501:exon13:c.T694C:p.S232P,HSD17B4:NM_001374502:exon13:c.T694C:p.S232P,HSD17B4:NM_001199291:exon14:c.T1180C:p.S394P,HSD17B4:NM_001292027:exon14:c.T1033C:p.S345P,HSD17B4:NM_001374500:exon14:c.T664C:p.S222P,HSD17B4:NM_001374503:exon14:c.T694C:p.S232P	D-bifunctional protein deficiency, Autosomal recessive;Perrault syndrome 1, Autosomal recessive	2	1519	1	0	0	1	0.000329056	.	.	.	586310	HSD17B4-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.119	0.0202688819982	.	.	1.649e-05	0	0	0	0	2.998e-05	0	0	1.29e-05	2	154602	rs781084978	3.496e-05	0.0004	3.764e-05	3.226e-05	0.0002	2.69e-05	2.427e-05	2.903e-05	2.574e-05	6.084e-05	0	0	2.53e-05	0	0.0002	3.878e-05	1.684e-05	3.505e-05	1.314e-05	1.313e-05	2.57e-05	0	2.941e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	0.242	0.22312	T	0.221	0.33109	T	0.001	0.11197	B	0.004	0.10090	B	0.207218	0.16453	N	0.644539	0.998062	0.24425	N	0.475	0.13142	N	-1.75	0.83495	D	-1.61	0.39314	N	0.175	0.23380	-0.8970	0.48293	T	0.264	0.63501	T	10	0.10314271	0.18945	T	0.020269	0.42829	T	0.119	0.33137	0.362	0.36711	0.824880002343	0.82322	0.5836028072308838	0.58289	0.0727130368711	0.08147	0.366561591625	0.20337	T	0.11293	0.42958	T	-0.102227	0.36054	T	-0.320973	0.42469	T	0.054950729434631	0.06349	T	0.766723	0.42712	T	0.19631228	0.41454	0.13157105	0.31591	0.19631228	0.41454	0.13157105	0.31590	-2.563	0.06901	T	0.09032067692630434	0.05612	0.076	0.05845	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	2.009926	0.25536	16.80	0.98932034170165739	0.48769	0.68143	0.33691	D	AEFBI	0.580553	0.58092	D	-0.52650164453884	0.21227	1.124927	-0.381430793229907	0.25551	1.40583	0.0673286344376866	0.15422	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.49	-0.052	0.13154	0.865000	0.27595	1.506000	0.26990	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1112:0.0816:0.4962:0.311	4.261	0.10188	920	0.19381	N-terminal of MaoC-like dehydratase;.;N-terminal of MaoC-like dehydratase;.;.;N-terminal of MaoC-like dehydratase;N-terminal of MaoC-like dehydratase;N-terminal of MaoC-like dehydratase;N-terminal of MaoC-like dehydratase;N-terminal of MaoC-like dehydratase;N-terminal of MaoC-like dehydratase	.	.	.	.	.	Likely benign	0	0	0	0	0	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	422.37	37	chr5	119499449	.	T	C	422.37	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-3.479;DP=352;ExcessHet=1.1394;FS=223.216;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=2.07;ReadPosRankSum=2.18;SOR=8.553	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:28,9:37:99:0|1:119499447_G_C:123,0,1044:119499447	4	0	3	0
chr5	128084239	128084239	-	GCGGCGGCGGCG	exonic	SLC12A2	.	nonframeshift insertion	SLC12A2:NM_001046:exon1:c.285_286insGCGGCGGCGGCG:p.A107_G108insAAAA,SLC12A2:NM_001256461:exon1:c.285_286insGCGGCGGCGGCG:p.A107_G108insAAAA	.	.	.	.	.	.	.	.	.	.	.	1361953	Kilquist_syndrome|Hearing_loss,_autosomal_dominant_78|Delpire-McNeill_syndrome|not_provided	MONDO:MONDO:0033664,MedGen:C5436756,OMIM:619080,Orphanet:633021|MONDO:MONDO:0033665,MedGen:C5436768,OMIM:619081|MONDO:MONDO:0033667,MedGen:C5436771,OMIM:619083,Orphanet:633024|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs747570026	3.012e-05	2.463e-05	3.25e-05	2.756e-05	0.0006	2.168e-05	1.913e-05	0.0001	4.482e-05	0	0	0	0	4.209e-05	0.0006	2.719e-05	0.0001	0	3.982e-05	3.949e-05	5.187e-05	2.719e-05	4.445e-05	1.73e-05	1.139e-05	1.18e-05	6.27e-06	2.427e-05	0	0	0	0	0.0002	0	4.445e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	93.79	12	chr5	128084239	.	T	TGCGGCGGCGGCG	93.79	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.191;DP=145;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.38;ReadPosRankSum=-0.914;SOR=0.941	GT:AD:DP:GQ:PL	0/1:7,3:12:99:104,0,278	6	0	1	0
chr5	135009435	135009435	A	G	exonic	CATSPER3	.	nonsynonymous SNV	CATSPER3:NM_178019:exon6:c.A881G:p.K294R	.	407	1102	13	0	0	13	0.00586378	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.419	.	0.0044	0.000998403	0.0052	0.0013	0.0005	0	0.0191	0.0060	0.0088	0.0048	0.0050064	774	154602	rs142494932	0.0066	0.0066	0.0067	0.0065	0.0070	0.0065	0.0064	0.0069	0.0069	0.0006	0.0006	0.0002	0	0.0169	0.0019	0.0070	0.0057	0.0054	0.0048	0.0048	0.0041	0.0056	0.0064	0.0046	0.0044	0.0059	0.0057	0.0011	0	0.0007	0.0003	0	0.0201	0	0.0064	0.0033	0.0048	0.016	0.51853	D	0.0	0.92824	D	0.578	0.38765	P	0.159	0.34693	B	0.000043	0.53742	D	0.000000	0.900165	0.27716	N	2.42	0.70002	M	-4.32	0.97218	D	-1.63	0.39119	N	0.246	0.27792	0.332	0.88060	D	0.761	0.91858	D	10	0.006649524	0.00151	T	.	.	.	0.419	0.72855	.	.	0.750660540831	0.74841	0.650057591843229	0.64941	0.148459400846	0.16742	0.457537829876	0.32972	T	0.120876	0.44343	T	-0.2343	0.16084	T	-0.103783	0.63103	T	0.021033309575824	0.00804	T	0.634936	0.24909	T	0.1104689	0.26111	0.13452666	0.32233	0.1104689	0.26110	0.13452666	0.32233	-4.001	0.23819	T	.	.	0.127	0.26978	B	.	.	3.596782	0.50782	23.0	0.99821231491869544	0.90414	0.64942	0.32572	D	AEFDGBHCI	0.235527	0.35812	N	-0.156451458973241	0.34960	2.002159	-0.123693374079516	0.34437	1.980904	0.193719634963112	0.18032	0.533608	0.22052	0	0.588015	0.36545	0	0.685742	0.62368	0	0.564101	0.26826	0	.	.	4.89	2.51	0.29435	1.826000	0.38730	.	.	-0.050000	0.17177	1.000000	0.71638	1.000000	0.68203	0.944000	0.48669	0.8057:0.0:0.1943:0.0	6.668	0.22243	803	0.44167	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002520	0.000000	0.004076	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	1264.46	90	chr5	135009435	.	A	G	1264.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.208;DP=301;ExcessHet=0;FS=0.807;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.05;ReadPosRankSum=-0.466;SOR=0.551	GT:AD:DP:GQ:PL	0/1:38,52:90:99:1275,0,953	6	0	1	0
chr5	138391480	138391480	G	T	exonic	KDM3B	.	nonsynonymous SNV	KDM3B:NM_016604:exon8:c.G1848T:p.E616D	.	423	1092	7	0	0	7	0.00319489	.	.	.	721231	KDM3B-related_disorder|Inborn_genetic_diseases|not_provided	.|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.076	0.00658677664402	0.0035	0.00159744	0.0036	0.0008	0.0014	0	0.0017	0.0054	0.0078	0.0018	0.0035575	550	154602	rs34608821	0.0032	0.0032	0.0030	0.0034	0.0087	0.0031	0.0031	0.0068	0.0061	0.0007	0.0017	0.0218	7.557e-05	0.0008	0.0087	0.0031	0.0039	0.0024	0.0030	0.0030	0.0032	0.0028	0.0039	0.0028	0.0027	0.0035	0.0034	0.0009	0	0.0034	0.0210	0	0.0008	0.0136	0.0039	0.0033	0.0019	0.408	0.10212	T	0.54	0.09760	T	0.0	0.02946	B	0.001	0.04355	B	0.023288	0.26470	N	0.405962	0.87772	0.81001	D	0	0.06538	N	-0.05	0.63403	T	-0.99	0.26200	N	0.047	0.01911	-1.1128	0.02840	T	0.059	0.24797	T	10	0.0025058687	0.00038	T	0.006587	0.17386	T	0.076	0.22200	0.063	0.00257	0.189391138174	0.18552	0.08823589275261579	0.08756	0.515532960109	0.49461	0.400202512741	0.25096	T	0.011049	0.09905	T	-0.538587	0.00342	T	-0.546016	0.17710	T	0.0140821131484894	0.00274	T	0.782222	0.41780	T	0.042526472	0.06467	0.032971773	0.02118	0.042526472	0.06467	0.032971773	0.02117	-4.58	0.31920	T	.	.	0.067	0.02428	B	.	.	1.270536	0.16691	12.70	0.80954532508335075	0.13449	0.79868	0.39664	D	AEFGBI	0.077041	0.15514	N	-0.792638441992666	0.13500	0.6655352	-0.628984887625744	0.18749	1.002999	0.858834449411682	0.25186	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.19	-0.02	0.13283	0.526000	0.22680	2.679000	0.34003	-0.244000	0.07312	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.3222:0.1072:0.43:0.1405	1.912	0.03090	388	0.83355	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.006042	0.000000	0.004076	0.002924	0.000000	0.000000	0.018293	0.003788	0.07143	1761.63	134	chr5	138391480	.	G	T	1761.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.225;DP=313;ExcessHet=0;FS=1.351;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.15;ReadPosRankSum=0.608;SOR=0.579	GT:AD:DP:GQ:PL	0/1:64,70:134:99:1772,0,1673	6	0	1	0
chr5	138810106	138810106	A	G	exonic	CTNNA1	.	startloss	CTNNA1:NM_001290309:exon3:c.A61G:p.M21V,CTNNA1:NM_001290307:exon4:c.A370G:p.M124V,CTNNA1:NM_001290310:exon4:c.A1G:p.M1?,CTNNA1:NM_001323983:exon4:c.A370G:p.M124V,CTNNA1:NM_001323985:exon4:c.A370G:p.M124V,CTNNA1:NM_001323986:exon4:c.A370G:p.M124V,CTNNA1:NM_001903:exon4:c.A370G:p.M124V,CTNNA1:NM_001323982:exon5:c.A370G:p.M124V,CTNNA1:NM_001323984:exon5:c.A370G:p.M124V	Macular dystrophy, patterned, 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	633295	Hereditary_cancer-predisposing_syndrome|not_provided|Patterned_macular_dystrophy_2	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0012162,MedGen:C1837029,OMIM:608970,Orphanet:99001	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.268	0.0233129120605	.	.	9.884e-05	0	0	0	0	0	0	0.0007	8.41e-05	13	154602	rs765587517	4.652e-05	4.652e-05	2.995e-05	6.325e-05	0.0005	3.727e-05	3.411e-05	0.0004	0.0004	0	0.0001	0	0	0	0.0005	1.079e-05	0	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.478	0.12878	T	0.248	0.26631	T	0.213	0.36465	B	0.054	0.39041	B	0.000000	0.84330	D	0.036402	1	0.81001	D	1.645	0.42016	L	1.2	0.40218	T	-2.49	0.54217	N	0.908	0.91162	-1.0925	0.05128	T	0.073	0.29483	T	9	0.20904067	0.37253	T	0.023313	0.46264	T	0.268	0.58254	.	.	0.785977951389	0.78399	0.637054760766422	0.63639	0.176751591813	0.19889	0.813790917397	0.84074	D	0.024346	0.56621	T	-0.144869	0.29119	T	-0.109612	0.62643	T	0.138025102675103	0.16103	T	0.855114	0.54241	D	0.47510016	0.65602	0.2862423	0.54632	0.47510016	0.65603	0.2862423	0.54631	-10.257	0.75436	D	0.1361440388761604	0.14863	0.453	0.67246	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.685799	0.52486	23.2	0.97570515879833675	0.34675	0.95645	0.65555	D	AEFGBCI	0.962522	0.98414	D	0.0686240171773444	0.45004	2.764296	0.233094474013113	0.51692	3.349655	0.999921300745734	0.46280	0.736574	0.97449	0	0.724815	0.89359	0	0.724815	0.87919	0	0.677812	0.66336	0	.	.	5.62	4.44	0.53164	7.508000	0.80566	9.441000	0.80828	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.8694:0.0:0.0:0.1306	11.933	0.52139	.	.	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	716.46	53	chr5	138810106	.	A	G	716.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.191;DP=225;ExcessHet=0;FS=5.893;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.52;ReadPosRankSum=-1.164;SOR=1.435	GT:AD:DP:GQ:PL	0/1:21,32:53:99:727,0,441	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	0/1:50,8:64:37:.:.:37,0,1641:.	4	0	3	0
chr5	141173766	141173766	G	C	exonic	PCDHB7	.	nonsynonymous SNV	PCDHB7:NM_018940:exon1:c.G931C:p.A311P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.0073481168098	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	1.163e-05	0	1.376e-06	9.001e-07	0	0	.	.	0	0	0	0	0	0	9.001e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.29823	T	0.088	0.40586	T	0.758	0.43456	P	0.516	0.48072	P	.	.	.	.	1	0.08975	N	1.905	0.50856	L	4.57	0.01917	T	-1.9	0.44284	N	0.19	0.20793	-0.9688	0.37448	T	0.012	0.04463	T	9	0.14442283	0.27407	T	0.007348	0.19496	T	0.054	0.15330	0.24	0.17218	0.297718772494	0.29385	0.23022774839758178	0.22937	0.259062600134	0.28458	0.285979688168	0.08340	T	0.007225	0.06645	T	-0.192082	0.21952	T	-0.513689	0.20937	T	0.239479869604111	0.22395	T	0.0113989	0.00062	T	0.14268309	0.32824	0.21860704	0.46570	0.14268309	0.32824	0.21860704	0.46569	-8.191	0.62365	D	.	.	0.557	0.67107	A	.	.	1.047924	0.14288	10.87	0.99254472283569606	0.56989	0.18010	0.20081	N	AEFDBI	0.376982	0.46093	N	-0.355294400045894	0.27079	1.482807	-0.435194067126652	0.23971	1.310156	0.0246842635642356	0.13596	0.554377	0.28877	0	0.573888	0.26702	0	0.578056	0.29568	0	0.567892	0.33627	0	.	.	4.61	2.79	0.31792	-0.037000	0.12116	.	.	-0.153000	0.12021	0.000000	0.06391	0.000000	0.08366	0.934000	0.47231	0.2524:0.0:0.5847:0.1629	4.291	0.10325	652	0.62785	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	.	.	.	.	.	.	.	.	0.3	338.9	99	chr5	141173766	.	G	C	338.9	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-3.271;DP=875;ExcessHet=1.1394;FS=200.776;MLEAC=3;MLEAF=0.3;MQ=60;MQRankSum=0;QD=0.71;ReadPosRankSum=1.42;SOR=10.125	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:78,21:99:96:.:.:96,0,2296:.	2	0	3	2
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|1:68,17:85:99:0|1:141303076_C_G:363,0,2255:141303076	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|1:68,17:85:99:0|1:141303076_C_G:363,0,2255:141303076	0	0	6	1
chr5	141389722	141389722	G	C	exonic	PCDHGB4	.	nonsynonymous SNV	PCDHGB4:NM_003736:exon1:c.G1838C:p.G613A,PCDHGB4:NM_032098:exon1:c.G1838C:p.G613A	.	196	1282	41	3	0	47	0.0180008	.	.	.	2825345	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.280	.	0.0072	0.00399361	0.0081	0.0020	0.0078	0	0.0103	0.0093	0.0101	0.0101	0.0078395	1212	154602	rs141134077	0.0097	0.0097	0.0095	0.0099	0.0282	0.0096	0.0095	0.0246	0.0232	0.0019	0.0078	0.0094	2.519e-05	0.0099	0.0282	0.0103	0.0090	0.0099	0.0079	0.0079	0.0080	0.0077	0.0120	0.0075	0.0073	0.0106	0.0101	0.0020	0	0.0120	0.0069	0	0.0122	0.0204	0.0105	0.0061	0.0079	0.134	0.26300	T	0.129	0.34837	T	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	1	0.81001	D	2.075	0.57047	M	0.6	0.53731	T	-4.97	0.82063	D	0.076	0.17828	-0.7849	0.56025	T	0.234	0.60087	T	9	0.009389728	0.00212	T	.	.	.	0.280	0.59740	.	.	0.698464051262	0.69585	0.35404861389993686	0.35318	.	.	.	.	.	0.181704	0.53346	T	-0.349946	0.04730	T	-0.261824	0.48642	T	0.0558360295277478	0.06496	T	0.914509	0.69499	D	0.36165914	0.57963	0.4088886	0.65193	0.36165914	0.57963	0.4088886	0.65193	-7.983	0.62439	D	.	.	0.157	0.34645	B	.;.	.;.	3.812229	0.54996	23.6	0.99596222077700636	0.73925	0.13787	0.18052	N	AEFBI	0.164576	0.29098	N	0.351618076349019	0.58824	4.057204	0.281579482210236	0.54466	3.611339	0.967080787852265	0.28951	0.625279	0.40028	0	0.588066	0.40923	0	0.667671	0.60360	0	0.59522	0.37078	0	.	.	5.05	5.05	0.67566	0.287000	0.18678	.	.	0.504000	0.22967	0.001000	0.13787	1.000000	0.68203	0.991000	0.66497	0.0:0.2654:0.7346:0.0	13.932	0.63510	759	0.50631	.;Cadherin-like|Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.029738	0.015152	0.019022	0.052632	0.150000	0.034483	0.018405	0.018939	0.07143	1450.44	137	chr5	141389722	.	G	C	1450.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.559;DP=342;ExcessHet=0;FS=4.114;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.59;ReadPosRankSum=0.37;SOR=1.039	GT:AD:DP:GQ:PL	0/1:78,59:137:99:1461,0,2026	6	0	1	0
chr5	142005010	142005010	C	A	exonic	GNPDA1	.	nonsynonymous SNV	GNPDA1:NM_005471:exon5:c.G516T:p.R172S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.363	0.0875799104661	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.59928	D	0.009	0.74150	D	0.713	0.42139	P	0.564	0.49695	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.92	0.84325	M	1.04	0.47130	T	-5.76	0.87835	D	0.91	0.93841	-0.5552	0.66588	T	0.238	0.60523	T	10	0.80243266	0.79626	D	0.08758	0.74964	D	0.363	0.68319	0.818	0.93195	0.69193853668	0.68929	0.8746439533467097	0.87430	0.862465403166	0.69021	0.719341754913	0.69951	T	0.121706	0.71899	T	0.221145	0.75885	D	0.0798827	0.75571	D	0.976303219795227	0.71318	D	0.955004	0.82846	D	0.90189815	0.91554	0.6536155	0.79725	0.90189815	0.91555	0.6536155	0.79726	-11.158	0.80517	D	.	.	0.977	0.90609	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.667633	0.52141	23.2	0.99726578446656888	0.82477	0.80119	0.39843	D	AEFDBCI	0.372394	0.45806	N	0.3966357445912	0.61239	4.322373	0.389965504712888	0.60946	4.288052	0.999998189205042	0.74766	0.706548	0.73137	0	0.633656	0.55848	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.84	4.97	0.65419	0.311000	0.19129	.	.	0.549000	0.26987	0.993000	0.37899	1.000000	0.68203	0.980000	0.58198	0.0:0.8604:0.0:0.1396	11.959	0.52285	926	0.17793	Glucosamine/galactosamine-6-phosphate isomerase;Glucosamine/galactosamine-6-phosphate isomerase;Glucosamine/galactosamine-6-phosphate isomerase;Glucosamine/galactosamine-6-phosphate isomerase;Glucosamine/galactosamine-6-phosphate isomerase;.;Glucosamine/galactosamine-6-phosphate isomerase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	522.44	79	chr5	142005010	.	C	A	522.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.939;DP=268;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.61;ReadPosRankSum=1.87;SOR=0.794	GT:AD:DP:GQ:PL	0/1:51,28:79:99:533,0,1250	6	0	1	0
chr5	148095825	148095825	C	T	exonic	SPINK5	.	nonsynonymous SNV	SPINK5:NM_001127698:exon10:c.C802T:p.R268C,SPINK5:NM_001127699:exon10:c.C802T:p.R268C,SPINK5:NM_006846:exon10:c.C802T:p.R268C	Atopy, Autosomal dominant;Netherton syndrome, Autosomal recessive	27	1458	31	6	0	43	0.0145319	.	.	.	297720	not_provided|Netherton_syndrome|Susceptibility_to_nonsyndromic_otitis_media|Ichthyosis_linearis_circumflexa|SPINK5-related_disorder	MedGen:C3661900|MONDO:MONDO:0009735,MedGen:C5574950,OMIM:256500,Orphanet:634|.|Human_Phenotype_Ontology:HP:0025810,MONDO:MONDO:0043106,MedGen:C0265962|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.176	.	0.0066	0.00658946	0.0065	0.0013	0.0039	0.0001	0.0035	0.0079	0.0112	0.0101	0.006714	1038	154602	rs142558269	0.0087	0.0087	0.0087	0.0087	0.0105	0.0086	0.0085	0.0100	0.0097	0.0017	0.0046	0.0147	7.572e-05	0.0032	0.0089	0.0093	0.0091	0.0105	0.0059	0.0059	0.0061	0.0057	0.0094	0.0056	0.0055	0.0082	0.0080	0.0015	0	0.0062	0.0133	0	0.0032	0	0.0088	0.0076	0.0094	0.002	0.72154	D	0.011	0.67890	D	0.999	0.77913	D	0.84	0.63994	P	0.457645	0.04850	N	1.411360	1	0.08975	N	2.135	0.59519	M	3.22	0.07024	T	-1.0	0.34596	N	0.229	0.29081	-1.0069	0.27881	T	0.037	0.16073	T	10	0.010680467	0.00237	T	.	.	.	0.176	0.44373	.	.	0.387529464389	0.38369	0.41044028393339194	0.40960	0.508721426473	0.49020	0.264859616756	0.05483	T	0.190079	0.54450	T	-0.478885	0.00751	T	-0.451266	0.27559	T	0.0166026273520082	0.00421	T	0.872413	0.58094	D	0.44952396	0.64011	0.23519337	0.48756	0.37980315	0.59302	0.23519337	0.48755	-9.877	0.73172	D	0.20916742614886388	0.27994	0.172	0.43476	B	.;.;.;.	.;.;.;.	3.671994	0.52224	23.2	0.99857554378171398	0.93639	0.21134	0.21293	N	AEFBI	0.098471	0.19841	N	-0.0612750867355711	0.39100	2.300454	-0.243013744255273	0.30013	1.686233	0.973580626111447	0.29468	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	3.82	3.82	0.43153	1.044000	0.29939	2.039000	0.30291	0.599000	0.40250	0.001000	0.13787	0.006000	0.19429	0.277000	0.23942	0.0:1.0:0.0:0.0	11.519	0.49792	838	0.37812	.;.;Kazal domain|Kazal domain|Kazal domain;Kazal domain|Kazal domain|Kazal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.014141	0.005102	0.017663	0.002941	0.000000	0.025862	0.024540	0.007576	0.07143	190.83	20	chr5	148095825	.	C	T	190.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.18;DP=210;ExcessHet=0;FS=1.74;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.54;ReadPosRankSum=-0.889;SOR=1.179	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:12,8:20:99:0|1:148095823_A_G:201,0,283:148095823	6	0	1	0
chr5	151663550	151663550	G	A	exonic	SPARC	.	nonsynonymous SNV	SPARC:NM_001309444:exon10:c.C931T:p.R311W	Osteogenesis imperfecta, type XVII, Autosomal recessive	428	1088	6	0	0	6	0.00274977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.000599042	0.0012	0	0.0008	0.0002	0.0014	0.0014	0.0011	0.0016	0.0011449	177	154602	rs201966091	0.0014	0.0014	0.0013	0.0015	0.0019	0.0013	0.0013	0.0017	0.0016	0.0001	0.0008	0.0058	5.041e-05	0.0007	0.0003	0.0013	0.0020	0.0019	0.0011	0.0011	0.0012	0.0011	0.0027	0.0010	0.0009	0.0016	0.0014	0.0001	0	0.0005	0.0066	0.0002	0.0005	0	0.0017	0.0005	0.0027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1063.45	47	chr5	151663550	.	G	A	1063.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.082;DP=234;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=22.63;ReadPosRankSum=-2.377;SOR=0.628	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:20,27:47:99:0|1:151663542_G_C:1074,0,738:151663542	6	0	1	0
chr5	154834880	154834880	G	C	exonic	FAXDC2	.	nonsynonymous SNV	FAXDC2:NM_032385:exon3:c.C103G:p.L35V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.0225774624919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.51e-05	8.073e-05	1.775e-05	1.243e-05	5.991e-05	9.89e-06	8.44e-06	1.015e-05	8.37e-06	5.991e-05	0	0	0	0	0	1.624e-05	3.321e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	0.22660	T	0.192	0.28300	T	0.741	0.42992	P	0.178	0.35748	B	0.000062	0.52346	D	0.127254	0.999577	0.47641	D	2.33	0.66821	M	0.11	0.61208	T	-1.43	0.42575	N	0.476	0.55280	-0.7898	0.55741	T	0.177	0.52272	T	10	0.3608216	0.52717	T	0.022577	0.45482	T	0.128	0.35103	0.368	0.37687	0.50685403127	0.50322	0.5472392752767269	0.54649	0.565306047963	0.52874	0.427203059196	0.28826	T	0.006447	0.05881	T	-0.0350922	0.46673	T	-0.288184	0.45962	T	0.975553870201111	0.70985	D	0.824718	0.55237	T	0.1653164	0.36795	0.16677296	0.38511	0.1653164	0.36795	0.16677296	0.38510	-4.327	0.28554	T	.	.	0.122	0.45149	B	.;.;.;.;.	.;.;.;.;.	3.205176	0.43602	21.8	0.99783212881991934	0.86955	0.93639	0.58770	D	AEFDGBHCI	0.839166	0.75660	D	0.282525933287588	0.55260	3.690427	0.346314316601126	0.58285	3.998306	0.999999999999752	0.74766	0.536635	0.22144	0	0.546412	0.12157	0	0.489635	0.07774	0	0.322989	0.05693	1	.	.	6.04	5.18	0.71140	4.974000	0.63486	8.428000	0.77165	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.933000	0.47100	0.0681:0.0:0.9319:0.0	15.162	0.72472	879	0.29470	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4167	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	0/1:49,23:72:99:130,0,910	1	0	5	1
chr5	154898477	154898477	C	T	exonic	GEMIN5	.	nonsynonymous SNV	GEMIN5:NM_001252156:exon23:c.G3305A:p.G1102E,GEMIN5:NM_015465:exon23:c.G3308A:p.G1103E	.	420	1093	9	0	0	9	0.00410023	.	.	.	2825471	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.218	0.0223503111972	.	.	0.0003	0	0	0	0	6e-05	0	0.0019	0.0002264	35	154602	rs35899504	0.0002	0.0002	0.0001	0.0002	0.0020	0.0002	0.0001	0.0018	0.0017	0	6.708e-05	3.826e-05	0	0	0.0009	4.946e-05	0.0002	0.0020	0.0002	0.0002	0.0001	0.0002	0.0023	0.0001	8.713e-05	0.0013	0.0010	0	0	0	0	0	0	0	0.0002	0.0005	0.0023	0.008	0.58626	D	0.006	0.70582	D	0.153	0.28093	B	0.057	0.26280	B	0.000320	0.45977	D	0.188221	0.996835	0.43448	D	2.045	0.56016	M	-0.47	0.70133	T	-2.9	0.60827	D	0.42	0.45992	-0.5212	0.67870	T	0.309	0.67967	T	10	0.033342123	0.01507	T	0.02235	0.45230	T	0.218	0.51265	0.358	0.36060	0.794561891209	0.79264	0.4992522190576079	0.49846	0.187504173009	0.21068	0.583928406239	0.50639	T	0.032256	0.22404	T	-0.286427	0.09998	T	-0.208836	0.53806	T	0.0572948620952491	0.06736	T	0.832017	0.49964	T	0.39621416	0.60469	0.49407843	0.70739	0.39621416	0.60470	0.49407843	0.70739	-10.683	0.77890	D	.	.	0.176	0.38534	B	.	.	3.017848	0.40382	21.2	0.98944199323229642	0.48997	0.93695	0.58928	D	AEFDBI	0.342419	0.43858	N	0.137105012772912	0.48200	3.035492	0.280703308675977	0.54412	3.60642	0.999997418525638	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.63	5.63	0.86108	1.538000	0.35700	1.795000	0.28833	0.599000	0.40250	1.000000	0.71638	0.949000	0.28973	0.998000	0.85391	0.0:0.86:0.14:0.0	15.217	0.72967	915	0.20917	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	781.49	61	chr5	154898477	.	C	T	781.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.158;DP=238;ExcessHet=0;FS=2.182;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=-1.717;SOR=1.048	GT:AD:DP:GQ:PL	0/1:30,31:61:99:792,0,728	6	0	1	0
chr5	156851073	156851073	G	C	exonic	PPP1R2B	.	nonsynonymous SNV	PPP1R2B:NM_206858:exon1:c.G511C:p.D171H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.418e-05	0.0011	6.741e-05	4.09e-05	0.0002	4.4e-05	4.066e-05	5.98e-05	4.429e-05	0.0002	0	7.731e-05	0	0	0	6.047e-05	6.768e-05	1.171e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4615255	0.59314	T	.	.	.	.	.	.	.	.	.	0.2572597244366428	0.25639	.	.	.	.	.	0.218599	0.58137	T	.	.	.	.	.	.	.	.	.	0.663034	0.27207	T	0.055607397	0.10830	0.18501627	0.41590	0.055607397	0.10830	0.18501627	0.41589	-8.286	0.63002	D	.	.	0.164	0.36154	B	.	.	2.539311	0.32847	19.16	0.82594821591478518	0.14274	0.82458	0.41683	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.180069036060123	0.17859	0.294411	0.05044	0	0.304816	0.05638	0	0.183335	0.04453	0	0.347871	0.05795	0	0.631564	0.41391	1.41	1.41	0.21461	5.516000	0.66771	6.822000	0.56673	0.171000	0.17763	1.000000	0.71638	1.000000	0.68203	0.420000	0.27228	0.0:0.0:1.0:0.0	8.870	0.34469	563	0.71062	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	353.26	89	chr5	156851073	.	G	C	353.26	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-4.31;DP=428;ExcessHet=0.3476;FS=188.352;MLEAC=1;MLEAF=0.071;MQ=56.7;MQRankSum=-2.78;QD=1.52;ReadPosRankSum=1.54;SOR=7.743	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,12:89:49:0|1:156851073_G_C:49,0,2790:156851073	6	0	1	0
chr5	156851083	156851083	T	C	exonic	PPP1R2B	.	nonsynonymous SNV	PPP1R2B:NM_206858:exon1:c.T521C:p.M174T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.288e-07	8.984e-06	1.461e-06	0	9.703e-07	0	0	.	.	0	0	0	0	0	0	9.703e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.243669	0.41585	T	.	.	.	.	.	.	.	.	.	0.2662507915246334	0.26538	.	.	.	.	.	0.147658	0.48585	T	.	.	.	.	.	.	.	.	.	0.646635	0.25786	T	0.10551003	0.24947	0.40157664	0.64663	0.10551003	0.24946	0.40157664	0.64663	-3.115	0.11469	T	.	.	0.225	0.45617	B	.	.	0.804578	0.11755	8.329	0.87200384812672005	0.17058	0.72941	0.35687	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.0302876265336412	0.13934	0.294411	0.05044	0	0.304816	0.05638	0	0.277913	0.05378	0	0.347871	0.05795	0	0.607242	0.40932	1.41	1.41	0.21461	4.434000	0.59679	7.379000	0.58442	0.168000	0.17747	1.000000	0.71638	1.000000	0.68203	0.538000	0.29892	0.0:0.0:0.0:1.0	6.974	0.23844	563	0.71062	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	41.44	84	chr5	156851083	.	T	C	41.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.537;DP=438;ExcessHet=0;FS=119.583;MLEAC=1;MLEAF=0.071;MQ=56.7;MQRankSum=-3.039;QD=0.49;ReadPosRankSum=1.65;SOR=7.111	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,11:84:52:0|1:156851073_G_C:52,0,2843:156851073	6	0	1	0
chr5	156851084	156851084	G	A	exonic	PPP1R2B	.	nonsynonymous SNV	PPP1R2B:NM_206858:exon1:c.G522A:p.M174I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23448128	0.40489	T	.	.	.	.	.	.	.	.	.	0.1570721436678043	0.15628	.	.	.	.	.	0.084872	0.37375	T	.	.	.	.	.	.	.	.	.	0.761924	0.38711	T	0.17414516	0.38202	0.39416957	0.64118	0.17414516	0.38201	0.39416957	0.64117	-3.596	0.17799	T	.	.	0.292	0.52360	B	.	.	0.679330	0.10477	7.195	0.79777657296161864	0.12896	0.66633	0.33146	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.00106444667798837	0.08183	0.294411	0.05044	0	0.304816	0.05638	0	0.277913	0.05378	0	0.347871	0.05795	0	0.0990276	0.22063	1.41	-0.391	0.11826	5.445000	0.66341	9.172000	0.79038	0.171000	0.17763	1.000000	0.71638	1.000000	0.68203	0.545000	0.30055	0.3286:0.0:0.6714:0.0	5.366	0.15415	563	0.71062	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	41.46	84	chr5	156851084	.	G	A	41.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.316;DP=442;ExcessHet=0;FS=118.235;MLEAC=1;MLEAF=0.071;MQ=56.69;MQRankSum=-3.039;QD=0.49;ReadPosRankSum=1.6;SOR=7.111	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,11:84:52:0|1:156851073_G_C:52,0,2843:156851073	6	0	1	0
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	1/1:0,325:325:99:14447,985,0	2	4	1	0
chr6	27310582	27310582	G	A	exonic	POM121L2	.	nonsynonymous SNV	POM121L2:NM_033482:exon1:c.C1589T:p.A530V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.00457380117422	.	.	.	.	.	.	.	.	.	.	.	.	.	rs931459915	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.025	0.56192	D	.	.	.	.	.	.	0.055521	0.22635	N	0.224693	0.852663	0.28474	N	1.385	0.34509	L	1.94	0.22678	T	-2.33	0.51646	N	0.033	0.00882	-1.0093	0.27136	T	0.021	0.08917	T	10	0.06081772	0.07530	T	0.004574	0.11283	T	0.037	0.09474	0.228	0.15406	0.0401082797425	0.02173	0.28922171704253374	0.28835	.	.	0.254709690809	0.04280	T	0.016631	0.13711	T	-0.321687	0.06761	T	-0.699857	0.05834	T	0.437501043081284	0.30337	T	0.454055	0.12934	T	0.08149508	0.18729	0.12834299	0.30879	0.08149508	0.18729	0.12834299	0.30878	-3.999	0.23789	T	.	.	0.122	0.25364	B	.	.	1.722228	0.21927	15.41	0.99824631958357912	0.90677	0.35993	0.25431	N	AEFDBI	0.065033	0.12662	N	-0.709333535591486	0.15758	0.7970068	-0.707749686166026	0.16767	0.8885786	0.00176535619173559	0.08861	0.516011	0.20929	0	0.610034	0.51514	0	0.563428	0.18855	0	0.530356	0.10902	0	.	.	4.41	2.64	0.30504	1.255000	0.32512	1.631000	0.27739	-0.186000	0.09761	0.088000	0.22533	0.006000	0.19429	0.249000	0.23237	0.2046:0.0:0.7954:0.0	7.159	0.24831	624	0.65661	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	211.99	40	chr6	27310582	.	G	A	211.99	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-1.57;DP=369;ExcessHet=1.383;FS=204.346;MLEAC=4;MLEAF=0.4;MQ=60;MQRankSum=0;QD=1;ReadPosRankSum=0.534;SOR=8.222	GT:AD:DP:GQ:PL	0/1:29,11:40:65:65,0,575	2	0	3	2
chr6	28287104	28287104	A	G	exonic	PGBD1	.	nonsynonymous SNV	PGBD1:NM_001184743:exon4:c.A578G:p.H193R,PGBD1:NM_032507:exon4:c.A578G:p.H193R	.	409	1094	18	1	0	20	0.00905797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00227787783254	0.0008	0.000399361	0.0006	0.0003	0.0003	0	0	0.0007	0.0022	0.0008	0.0006015	93	154602	rs148512859	0.0006	0.0006	0.0006	0.0006	0.0106	0.0006	0.0006	0.0085	0.0077	0.0004	0.0006	0.0002	0	0	0.0106	0.0007	0.0008	0.0005	0.0005	0.0005	0.0005	0.0005	0.0008	0.0004	0.0004	0.0005	0.0005	0.0002	0	0.0007	0	0	0	0.0102	0.0007	0.0028	0.0008	0.355	0.12109	T	0.349	0.17531	T	0.171	0.28729	B	0.03	0.21741	B	.	.	.	.	1	0.08975	N	1.24	0.30952	L	5.06	0.01260	T	-0.48	0.15379	N	0.073	0.04668	-0.9251	0.44844	T	0.001	0.00287	T	9	0.010882914	0.00240	T	0.002278	0.04369	T	0.025	0.05312	.	.	0.225902525712	0.22197	0.21846926799487926	0.21762	.	.	0.36818510294	0.20571	T	0.001684	0.01111	T	-0.6557	0.00067	T	-0.792632	0.02093	T	0.00539495298113635	0.00058	T	0.39586	0.09952	T	0.020562895	0.00619	0.034223743	0.02451	0.020562895	0.00619	0.034223743	0.02450	-3.34	0.14259	T	.	.	0.066	0.02228	B	.	.	-0.350745	0.02404	0.268	0.61767355836450288	0.06792	0.01150	0.04159	N	AEFGBI	0.023257	0.01272	N	-1.17160867607647	0.05434	0.2476974	-1.24760222737288	0.05166	0.2455314	0.0583885366125283	0.15125	0.706548	0.73137	0	0.546412	0.12157	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.32	-5.31	0.02519	-1.565000	0.02254	-0.815000	0.07319	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.606000	0.31539	0.1504:0.3003:0.2506:0.2987	0.878	0.01149	516	0.74704	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006546	0.000000	0.009511	0.005848	0.050000	0.017241	0.000000	0.003788	0.07143	872.46	111	chr6	28287104	.	A	G	872.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.578;DP=292;ExcessHet=0;FS=6.068;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.86;ReadPosRankSum=-0.532;SOR=0.42	GT:AD:DP:GQ:PL	0/1:66,45:111:99:883,0,1683	6	0	1	0
chr6	28435078	28435078	T	A	exonic	ZSCAN23	.	nonsynonymous SNV	ZSCAN23:NM_001012455:exon4:c.A557T:p.D186V	.	437	1070	13	2	0	17	0.00788132	0.0035	0.198	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	.	.	.	0.0002	0.0006	0	0	0	0	0.0062	0.0002	2.59e-05	4	154602	rs768184339	7.44e-05	7.388e-05	7.312e-05	7.572e-05	0.0034	6.234e-05	5.818e-05	0.0023	0.0019	3.318e-05	0.0006	0.0002	0	0	0.0034	4.225e-05	0.0002	5.244e-05	0.0001	0.0001	8.997e-05	0.0001	0.0005	7.09e-05	5.747e-05	0.0002	0.0002	7.223e-05	0	0.0005	0	0	0	0.0034	5.881e-05	0.0009	0	0.218	0.19090	T	0.128	0.34959	T	0.001	0.07471	B	0.003	0.08700	B	0.143230	0.18217	N	0.409734	0.973669	0.39042	D	2.35	0.67516	M	3.39	0.05710	T	-4.83	0.80943	D	0.21	0.23380	-0.9651	0.38191	T	0.006	0.01981	T	10	0.052782416	0.05365	T	0.002135	0.03962	T	0.055	0.15663	.	.	0.329020015101	0.32502	0.25952741445275024	0.25866	0.380450103368	0.39413	0.246379107237	0.03396	T	0.098056	0.40149	T	-0.507394	0.00519	T	-0.619441	0.11229	T	0.179459199309349	0.19201	T	0.573543	0.20534	T	0.17597505	0.38486	0.12403049	0.29902	0.17597505	0.38486	0.12403049	0.29901	-4.018	0.24072	T	.	.	0.235	0.46802	B	.	.	1.409454	0.18245	13.63	0.90017490177584891	0.19307	0.08993	0.14835	N	AEFBI	0.120583	0.23484	N	-0.714267508158868	0.15620	0.788786	-0.716350446275307	0.16553	0.8762617	0.0045899190490222	0.10627	0.651	0.46895	0	0.588066	0.40923	0	0.65145	0.50148	0	0.567892	0.33627	0	.	.	4.37	0.477	0.15995	-0.401000	0.07293	-0.376000	0.09574	0.665000	0.62972	0.013000	0.18845	0.006000	0.19429	0.985000	0.61073	0.2137:0.2387:0.0:0.5476	2.591	0.04548	624	0.65661	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	99.73	10	chr6	28435078	.	T	A	99.73	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.017;DP=105;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.97;ReadPosRankSum=1.32;SOR=0.16	GT:AD:DP:GQ:PL	0/1:5,5:10:99:110,0,172	6	0	1	0
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	0/1:4,5:9:95:111,0,95	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	0/1:16,31:47:99:775,0,381	5	0	2	0
chr6	30986534	30986534	C	T	exonic	MUC21	.	nonsynonymous SNV	MUC21:NM_001010909:exon2:c.C359T:p.A120V,MUC21:NM_001322370:exon3:c.C359T:p.A120V,MUC21:NM_001322371:exon3:c.C359T:p.A120V	.	427	1069	23	1	2	27	0.011558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.00768161270413	.	.	0.0023	0.0005	0.0030	0.0001	0.0021	0.0022	0.0067	0.0040	0.0004226	11	26028	rs145298646	0.0002	0.0008	0.0002	0.0002	0.0072	0.0002	0.0002	0.0054	0.0048	0.0002	0.0002	0.0013	0	0.0010	0.0072	0.0001	0.0004	0.0002	0.0008	0.0011	0.0008	0.0009	0.0011	0.0007	0.0007	0.0008	0.0007	0.0002	0.0011	0.0011	0.0053	0	0.0010	0	0.0010	0.0029	0.0004	0.026	0.46910	D	0.13	0.34716	T	0.004	0.12183	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	1.87	0.49600	L	4.16	0.02791	T	-1.69	0.40274	N	0.015	0.00181	-0.9233	0.45098	T	0.002	0.00646	T	8	0.0043483377	0.00088	T	0.007682	0.20378	T	0.005	0.00259	.	.	0.0138822411134	0.00435	0.022653737281107	0.02217	0.13604173387	0.15343	0.175705850124	0.00061	T	0.006266	0.05707	T	-0.572595	0.00214	T	-0.654461	0.08644	T	0.0147811067918378	0.00310	T	0.377362	0.09032	T	0.079729676	0.18231	0.069277436	0.14574	0.079729676	0.18231	0.069277436	0.14574	-7.527	0.57801	D	.	.	0.160	0.35352	B	.	.	0.450072	0.08202	4.938	0.79200138766895023	0.12635	0.02275	0.06565	N	AEFDBI	0.049231	0.08484	N	-1.4073892480291	0.02573	0.1138163	-1.42176720136605	0.03035	0.1408197	0.49502021636049	0.20895	0.497415	0.19182	0	0.547309	0.14657	0	0.48864	0.07692	0	0.542086	0.14980	0	.	.	3.34	1.54	0.22290	-0.128000	0.10508	.	.	-0.376000	0.05418	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.6451:0.0:0.3549	5.806	0.17700	923	0.18507	Tandem-repeating region of mucin, epiglycanin-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	0.023420	0.000000	0.048913	0.005319	0.100000	0.017241	0.009146	0.003788	0.07143	2462.44	292	chr6	30986534	.	C	T	2462.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.277;DP=1924;ExcessHet=0;FS=2.243;MLEAC=1;MLEAF=0.071;MQ=59.17;MQRankSum=-4.13;QD=8.43;ReadPosRankSum=-3.634;SOR=0.558	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:206,86:292:99:0|1:30986534_C_T:2473,0,7780:30986534	6	0	1	0
chr6	30986557	30986557	C	G	exonic	MUC21	.	nonsynonymous SNV	MUC21:NM_001010909:exon2:c.C382G:p.P128A,MUC21:NM_001322370:exon3:c.C382G:p.P128A,MUC21:NM_001322371:exon3:c.C382G:p.P128A	.	432	1067	20	1	2	24	0.0102041	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	.	.	0.0497204	0.0002	0	0.0002	0	0.0002	0.0002	0	0	0.009605	250	26028	rs143481246	4.144e-05	0.0002	3.398e-05	4.916e-05	0.0009	3.209e-05	2.838e-05	0.0003	0.0002	4.121e-05	7.062e-05	0.0004	4.922e-05	0.0003	0.0009	2.147e-05	4.713e-05	1.829e-05	0.0015	0.0029	0.0016	0.0014	0.0017	0.0012	0.0011	0.0012	0.0011	0.0005	0.0037	0.0017	0.0133	0	0.0013	0	0.0016	0.0045	0	0.362	0.11844	T	0.788	0.04220	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.55	0.14455	N	4.69	0.01694	T	0.25	0.04456	N	0.029	0.00666	-0.9268	0.44602	T	0.001	0.00255	T	8	0.004594803	0.00096	T	.	.	.	0.008	0.00669	.	.	0.0138822411134	0.00435	0.02024443971761337	0.01977	0.132602748589	0.14944	0.172138929367	0.00041	T	0.002269	0.01671	T	-0.357624	0.04266	T	-0.751478	0.03428	T	0.112471267731771	0.13678	T	0.273273	0.04638	T	0.015408391	0.00137	0.035834998	0.02910	0.015408391	0.00137	0.035834998	0.02909	-1.322	0.01437	T	.	.	0.060	0.00890	B	.	.	-1.329367	0.00414	0.008	0.24694693380172195	0.01104	0.00884	0.03485	N	AEFBI	0.034662	0.04332	N	-1.92231816904056	0.00309	0.01326451	-1.98828094274214	0.00324	0.01431717	0.744665633364085	0.23266	0.497415	0.19182	0	0.547309	0.14657	0	0.315538	0.05692	2	0.542086	0.14980	0	.	.	3.34	-5.44	0.02419	-3.452000	0.00519	.	.	-1.203000	0.01359	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3821:0.2781:0.2052:0.1346	1.110	0.01598	923	0.18507	Tandem-repeating region of mucin, epiglycanin-like|Tandem-repeating region of mucin, epiglycanin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1538.23	281	chr6	30986557	.	C	G	1538.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=4.59;DP=1906;ExcessHet=0;FS=2.696;MLEAC=1;MLEAF=0.083;MQ=59.12;MQRankSum=-5.379;QD=5.47;ReadPosRankSum=-3.731;SOR=0.496	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:226,55:281:99:0|1:30986534_C_T:1548,0,8692:30986534	5	0	1	1
chr6	30986558	30986558	C	T	exonic	MUC21	.	nonsynonymous SNV	MUC21:NM_001010909:exon2:c.C383T:p.P128L,MUC21:NM_001322370:exon3:c.C383T:p.P128L,MUC21:NM_001322371:exon3:c.C383T:p.P128L	.	427	1072	20	1	2	24	0.010157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	.	.	0.114617	0.0002	0.0001	0.0002	0	0.0002	0.0002	0	0	0.0247426	644	26028	rs146461318	0.0005	0.0009	0.0004	0.0005	0.0014	0.0004	0.0004	0.0010	0.0009	0.0007	0.0014	0.0022	0.0007	0.0004	0.0006	0.0004	0.0005	0.0003	0.0008	0.0022	0.0008	0.0009	0.0015	0.0007	0.0007	0.0009	0.0008	0.0005	0.0013	0.0015	0.0052	0	0.0008	0	0.0008	0.0024	0	0.112	0.28900	T	0.228	0.25286	T	0.0	0.02946	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0.895	0.22405	L	4.65	0.01779	T	-1.0	0.26422	N	0.033	0.00882	-0.9862	0.33542	T	0.001	0.00348	T	8	0.003588736	0.00065	T	.	.	.	0.008	0.00669	.	.	0.0138822411134	0.00435	0.02662548264377311	0.02612	0.139710390956	0.15747	0.179393336177	0.00088	T	0.004786	0.04195	T	-0.634036	0.00090	T	-0.741301	0.03836	T	0.0453032806463648	0.04657	T	0.450155	0.12692	T	0.05932385	0.12043	0.06965914	0.14704	0.05932385	0.12043	0.06965914	0.14704	-4.688	0.33258	T	.	.	0.096	0.15296	B	.	.	-0.346844	0.02419	0.272	0.4402007453429761	0.03355	0.00985	0.03747	N	AEFBI	0.043950	0.07012	N	-1.37102683541937	0.02913	0.1293467	-1.39345846531643	0.03321	0.1546911	0.0981242909096301	0.16297	0.497415	0.19182	0	0.547309	0.14657	0	0.315538	0.05692	2	0.542086	0.14980	0	.	.	3.34	0.415	0.15628	-4.557000	0.00249	.	.	-1.148000	0.01430	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.6864:0.0:0.3136	7.284	0.25505	923	0.18507	Tandem-repeating region of mucin, epiglycanin-like|Tandem-repeating region of mucin, epiglycanin-like	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.118192	0.111111	0.119565	0.079787	0.100000	0.129310	0.121951	0.090909	0.07143	1534.44	374	chr6	30986558	.	C	T	1534.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.8;DP=1790;ExcessHet=0;FS=10.108;MLEAC=1;MLEAF=0.071;MQ=59.13;MQRankSum=-3.894;QD=6.34;ReadPosRankSum=-3.993;SOR=0.586	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:187,55:374:99:0|1:30986534_C_T:1545,0,8732:30986534	6	0	1	0
chr6	30986566	30986566	G	A	exonic	MUC21	.	nonsynonymous SNV	MUC21:NM_001010909:exon2:c.G391A:p.G131R,MUC21:NM_001322370:exon3:c.G391A:p.G131R,MUC21:NM_001322371:exon3:c.G391A:p.G131R	.	431	1067	22	1	1	25	0.0111214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.00950271359042	.	.	8.268e-05	0	0.0002	0	0.0002	0.0001	0	0	3.84e-05	1	26028	rs764373351	1.124e-05	7.94e-05	9.775e-06	1.271e-05	8.254e-06	6.65e-06	5.38e-06	3.88e-06	2.81e-06	0	0	0.0002	0	3.871e-05	0	8.254e-06	1.727e-05	0	0.0003	0.0008	0.0003	0.0003	0.0003	0.0002	0.0002	0.0002	0.0002	7.361e-05	0.0011	0.0003	0.0024	0	0.0002	0	0.0003	0.0005	0	0.012	0.54683	D	0.077	0.42436	T	0.981	0.59675	D	0.813	0.58748	P	.	.	.	.	0.99553	0.42735	D	1.845	0.48678	L	4.06	0.03063	T	-3.03	0.62747	D	0.146	0.14763	-0.8618	0.51133	T	0.008	0.02720	T	8	0.09402475	0.16687	T	0.009503	0.24878	T	0.092	0.26621	0.432	0.48171	0.0986583533028	0.09354	0.01641760695060465	0.01597	0.164144482972	0.18523	0.184902384877	0.00148	T	0.019682	0.15634	T	-0.237662	0.15648	T	-0.579162	0.14619	T	0.237693130970001	0.22312	T	0.581942	0.21082	T	0.18017535	0.39126	0.19048621	0.42454	0.18017535	0.39126	0.19048621	0.42453	-7.248	0.55825	T	.	.	0.114	0.22609	B	.	.	1.162377	0.15516	11.91	0.63329101435316459	0.07195	0.09434	0.15190	N	AEFBI	0.085086	0.17247	N	-0.328701875930033	0.28062	1.544745	-0.513909145741143	0.21776	1.179572	0.834675271398543	0.24756	0.497415	0.19182	0	0.547309	0.14657	0	0.315538	0.05692	2	0.542086	0.14980	0	.	.	2.78	2.78	0.31702	-0.136000	0.10384	.	.	0.513000	0.23382	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.0:1.0:0.0	9.301	0.37008	923	0.18507	Tandem-repeating region of mucin, epiglycanin-like|Tandem-repeating region of mucin, epiglycanin-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	1147.44	273	chr6	30986566	.	G	A	1147.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=4.03;DP=1781;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=59.04;MQRankSum=-5.832;QD=4.2;ReadPosRankSum=-4.767;SOR=0.695	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:229,44:273:99:0|1:30986534_C_T:1158,0,8839:30986534	6	0	1	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	0/1:286,247:533:99:.:.:7232,0,9711:.	4	0	2	1
chr6	31269983	31269983	C	T	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon5:c.G998A:p.C333Y,HLA-C:NM_002117:exon5:c.G998A:p.C333Y	.	28	1411	77	6	0	89	0.0305737	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	.	.	0.023762	0.0107	0.0581	0.0088	0.0010	0.0033	0.0074	0.0108	0.0041	0.005302	138	26028	rs1143551	3.892e-05	0.0019	3.328e-05	4.473e-05	0.0018	2.76e-05	2.395e-05	0.0012	0.0010	0.0003	0	0	0.0018	0	0	7.971e-06	0	2.755e-05	1.559e-05	0.0046	2.983e-05	0	7.996e-05	0	0	.	.	7.996e-05	0	0	0	0	0	0	0	0	0	0.008	0.58626	D	0.442	0.13252	T	0.995	0.67487	D	0.994	0.82059	D	0.961562	0.07721	U	1.025580	1	0.08975	N	.	.	.	5.73	0.00734	T	0.65	0.03297	N	0.057	0.02861	-0.8215	0.53840	T	0.003	0.00864	T	10	0.003534168	0.00063	T	.	.	.	0.118	0.32913	.	.	.	.	0.10940588369650811	0.10869	1.83665520473	0.92112	0.236690431833	0.02500	T	0.006219	0.05657	T	-0.539837	0.00336	T	-0.495566	0.22809	T	0.025896967573812	0.01391	T	0.125887	0.05243	T	.	.	.	.	.	.	.	.	-4.931	0.36082	T	.	.	0.069	0.05491	B	.;.;.	.;.;.	2.340305	0.29987	18.30	0.88826057933371938	0.18286	0.03000	0.07863	N	AEFDBHCI	0.080062	0.16180	N	-0.340673899973216	0.27617	1.51662	-0.569206718883037	0.20298	1.092952	0.999999382160841	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	2.76	1.86	0.24489	-1.132000	0.03346	.	.	-0.419000	0.05236	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.8191:0.0:0.1809	4.945	0.13338	934	0.15400	.;.;.	.	.	.	.	rs147538248	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.025967	0.010526	0.054496	0.015957	0.150000	0.017241	0.000000	0.019084	0.07143	992.63	106	chr6	31269983	.	C	T	992.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.508;DP=664;ExcessHet=0;FS=0.74;MLEAC=1;MLEAF=0.071;MQ=57.52;MQRankSum=-7.073;QD=9.36;ReadPosRankSum=2.33;SOR=0.844	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:61,45:106:99:0|1:31269983_C_T:1003,0,2387:31269983	6	0	1	0
chr6	31269984	31269984	A	G	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon5:c.T997C:p.C333R,HLA-C:NM_002117:exon5:c.T997C:p.C333R	.	28	1411	77	6	0	89	0.0305737	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	.	.	0.0223642	0.0105	0.0576	0.0087	0.0001	0.0033	0.0073	0.0108	0.0041	0.005033	131	26028	rs41560617	1.038e-05	0.0019	1.28e-05	7.893e-06	0.0003	4.46e-06	3.23e-06	6.847e-05	3.638e-05	0.0003	0	0	0	0	0	6.376e-06	0	2.755e-05	1.569e-05	0.0046	3.001e-05	0	8.044e-05	0	0	.	.	8.044e-05	0	0	0	0	0	0	0	0	0	0.007	0.72154	D	0.273	0.22154	T	0.995	0.67487	D	0.994	0.82059	D	0.961562	0.07721	U	1.025580	1	0.08975	N	.	.	.	5.71	0.00734	T	-1.34	0.33401	N	0.105	0.08925	-0.8562	0.51534	T	0.002	0.00707	T	10	0.0034644306	0.00061	T	.	.	.	0.100	0.28662	.	.	.	.	0.19501021438939248	0.19419	1.88329240083	0.92632	0.232454329729	0.02155	T	0.035636	0.23797	T	-0.554439	0.00274	T	-0.515736	0.20728	T	0.0335258512546306	0.02558	T	0.185981	0.08182	T	.	.	.	.	.	.	.	.	-3.564	0.17338	T	.	.	0.097	0.21877	B	.;.;.	.;.;.	1.353108	0.17613	13.27	0.82700432174482796	0.14329	0.01625	0.05246	N	AEFDBHCI	0.078806	0.15908	N	-0.559233629742458	0.20195	1.062845	-0.820899333920841	0.13990	0.7286657	0.999999254125092	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	2.76	-2.0	0.07024	-0.417000	0.07153	.	.	-1.050000	0.01643	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3421:0.0:0.0:0.6579	6.411	0.20895	934	0.15400	.;.;.	.	.	.	.	rs140243942	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.016648	0.005263	0.032967	0.010638	0.150000	0.017241	0.000000	0.007634	0.07143	999.63	107	chr6	31269984	.	A	G	999.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.185;DP=663;ExcessHet=0;FS=1.572;MLEAC=1;MLEAF=0.071;MQ=57.5;MQRankSum=-6.948;QD=9.34;ReadPosRankSum=2.43;SOR=0.886	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:61,46:107:99:0|1:31269983_C_T:1010,0,2385:31269983	6	0	1	0
chr6	31269985	31269985	C	T	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon5:c.G996A:p.M332I,HLA-C:NM_002117:exon5:c.G996A:p.M332I	.	28	1411	77	6	0	89	0.0305737	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	.	.	0.023762	0.0106	0.0578	0.0087	0.0001	0.0033	0.0074	0.0108	0.0041	0.005302	138	26028	rs41540416	1.038e-05	0.0019	1.28e-05	7.893e-06	0.0003	4.46e-06	3.23e-06	6.83e-05	3.634e-05	0.0003	0	0	0	0	0	6.376e-06	0	2.755e-05	1.558e-05	0.0046	2.982e-05	0	7.991e-05	0	0	.	.	7.991e-05	0	0	0	0	0	0	0	0	0	0.03	0.53172	D	0.274	0.22084	T	0.0	0.02946	B	0.001	0.04355	B	0.427676	0.12789	U	0.657459	1	0.08975	N	.	.	.	5.85	0.00662	T	-0.81	0.22294	N	0.035	0.01004	-0.9409	0.42473	T	0.001	0.00222	T	10	0.010112762	0.00226	T	.	.	.	0.109	0.30843	0.333	0.32005	.	.	0.09930668900732408	0.09861	0.548098038175	0.51770	0.312004953623	0.12210	T	0.014848	0.12562	T	-0.586337	0.00176	T	-0.562359	0.16155	T	2.40141039539106e-05	0.00000	T	0.739226	0.35772	T	.	.	.	.	.	.	.	.	-5.08	0.37696	T	.	.	0.159	0.39442	B	.;.;.	.;.;.	0.799758	0.11705	8.284	0.55643753892962067	0.05385	0.03006	0.07873	N	AEFDBHCI	0.063853	0.12364	N	-1.53604031898597	0.01618	0.07072133	-1.66313067783111	0.01309	0.05907979	0.999999998335067	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	2.76	-5.53	0.02351	-0.595000	0.05822	.	.	0.447000	0.21209	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.11:0.5672:0.1517:0.1711	4.091	0.09446	934	0.15400	.;.;.	.	.	.	.	rs145653234	Likely benign	0	0	0	0	0	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	999.63	107	chr6	31269985	.	C	T	999.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.536;DP=661;ExcessHet=0;FS=1.572;MLEAC=1;MLEAF=0.071;MQ=57.45;MQRankSum=-6.948;QD=9.34;ReadPosRankSum=2.39;SOR=0.886	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:61,46:107:99:0|1:31269983_C_T:1010,0,2385:31269983	6	0	1	0
chr6	31270037	31270037	-	GGACAGCCAGGACAGCTG	exonic	HLA-C	.	nonframeshift insertion	HLA-C:NM_001243042:exon5:c.943_944insCAGCTGTCCTGGCTGTCC:p.G314_L315insPAVLAV,HLA-C:NM_002117:exon5:c.943_944insCAGCTGTCCTGGCTGTCC:p.L315delinsPAVLAVL	.	12	1426	78	6	0	90	0.0305914	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0083	0.0444	0.0068	0	0.0023	0.0058	0.0116	0.0031	0.0006916	18	26028	rs148706212	1.686e-05	0.0015	1.28e-05	2.105e-05	0.0003	9.41e-06	7.25e-06	0.0001	6.813e-05	0.0003	0	0	0	7.638e-05	0	7.971e-06	0	5.504e-05	1.542e-05	0.0032	2.954e-05	0	7.854e-05	0	0	.	.	7.854e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1260.5	84	chr6	31270037	.	A	AGGACAGCCAGGACAGCTG	1260.5	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.58;DP=619;ExcessHet=0;FS=19.131;MLEAC=1;MLEAF=0.071;MQ=57.84;MQRankSum=-7.051;QD=15.01;ReadPosRankSum=-1.278;SOR=2.443	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:50,34:84:99:0|1:31270037_A_AGGACAGCCAGGACAGCTG:1271,0,1997:31270037	6	0	1	0
chr6	31270044	31270044	C	A	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon5:c.G937T:p.A313S,HLA-C:NM_002117:exon5:c.G937T:p.A313S	.	8	1430	78	6	0	90	0.0305085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	.	.	0.0209665	0.0084	0.0454	0.0069	0	0.0026	0.0058	0.0093	0.0031	0.0047641	124	26028	rs41545712	2.854e-05	0.0015	2.303e-05	3.42e-05	0.0005	1.868e-05	1.595e-05	0.0002	0.0001	0.0005	0.0002	0	0	0	0	1.116e-05	0	0.0002	0	0.0034	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.014	0.53172	D	0.029	0.54541	D	0.996	0.68779	D	0.989	0.78396	D	0.131306	0.18627	U	0.374715	1	0.08975	N	.	.	.	5.57	0.00853	T	-1.44	0.35991	N	0.144	0.14763	-0.9472	0.41448	T	0.005	0.01833	T	10	0.0030748248	0.00051	T	.	.	.	0.083	0.24192	.	.	0.269111216191	0.26524	0.1421143076834137	0.14134	1.33609069953	0.83747	0.211957156658	0.00897	T	0.028319	0.20539	T	-0.492036	0.00633	T	-0.426902	0.30286	T	0.0487267516968755	0.05274	T	0.611339	0.23205	T	.	.	.	.	.	.	.	.	-8.281	0.62969	D	.	.	0.131	0.31633	B	.;.;.	.;.;.	2.795962	0.36766	20.3	0.47016589134919956	0.03811	0.09575	0.15300	N	AEFBHCI	0.067665	0.13312	N	-0.316326039818362	0.28527	1.574243	-0.572322111535915	0.20216	1.088159	0.999995248611718	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	2.67	1.75	0.23707	0.708000	0.25393	.	.	0.539000	0.25131	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.7284:0.2716:0.0	7.416	0.26217	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	.	.	.	.	.	.	.	.	0.07143	1131.53	84	chr6	31270044	.	C	A	1131.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.91;DP=610;ExcessHet=0;FS=12.224;MLEAC=1;MLEAF=0.071;MQ=58.08;MQRankSum=-6.788;QD=13.47;ReadPosRankSum=-1.079;SOR=2.052	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:53,31:84:99:0|1:31270037_A_AGGACAGCCAGGACAGCTG:1142,0,2130:31270037	6	0	1	0
chr6	31270056	31270056	T	A	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon5:c.A925T:p.M309L,HLA-C:NM_002117:exon5:c.A925T:p.M309L	.	81	51	300	1006	84	2396	0.957746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.120	.	.	0.0177716	0.0078	0.0433	0.0067	0.0001	0.0026	0.0052	0.0092	0.0028	0.0070245	1086	154602	rs1050180	2.484e-05	0.0016	2.064e-05	2.915e-05	0.0005	1.588e-05	1.28e-05	0.0002	0.0002	0.0005	0.0001	0	0	0	0	1.125e-05	0	0.0001	3.397e-05	0.0042	3.245e-05	3.565e-05	8.98e-05	5.64e-06	2.11e-06	.	.	8.98e-05	0	0	0	0	0	0	3.028e-05	0	0	0.018	0.50676	D	0.125	0.36101	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	5.82	0.00657	T	-0.4	0.14978	N	0.067	0.04307	-1.0040	0.28755	T	0.001	0.00378	T	9	0.0030311644	0.00050	T	.	.	.	0.120	0.33359	0.407	0.44066	0.0762999501168	0.06990	0.10785664231938592	0.10714	0.459405056151	0.45523	0.250036120415	0.03772	T	0.006007	0.05450	T	-0.585568	0.00178	T	-0.561255	0.16258	T	0.00351274895036235	0.00037	T	0.210379	0.02537	T	.	.	.	.	.	.	.	.	-5.459	0.41483	T	.	.	0.115	0.25850	B	.;.;.	.;.;.	0.455434	0.08254	4.996	0.33681637653518909	0.02019	0.04374	0.09949	N	AEFBHCI	0.092565	0.18738	N	-1.68195883182571	0.00907	0.0392893	-1.81546310783018	0.00711	0.03167287	0.999999606301239	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	2.67	-3.63	0.04238	-3.041000	0.00696	.	.	-2.073000	0.00407	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2105:0.0:0.7895	10.581	0.44447	934	0.15400	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	19069.4	79	chr6	31270056	.	T	A	19069.4	.	AC=1;AF=0.071;AN=14;DP=616;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=59.65;QD=33.28;SOR=0.981	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,30:79:99:.:.:2490,1371,2009:.	6	0	1	0
chr6	31270058	31270058	A	T	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon5:c.T923A:p.I308N,HLA-C:NM_002117:exon5:c.T923A:p.I308N	.	12	1426	78	6	0	90	0.0305914	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	.	.	0.0177716	0.0074	0.0413	0.0064	0	0.0023	0.0048	0.0094	0.0028	0.0067399	1042	154602	rs1065600	2.596e-05	0.0015	1.792e-05	3.422e-05	0.0005	1.695e-05	1.377e-05	0.0002	0.0001	0.0005	0.0001	0	0	0	0	1.116e-05	0	0.0001	3.11e-05	0.0036	2.984e-05	3.246e-05	8.032e-05	5.16e-06	1.93e-06	.	.	8.032e-05	0	0	0	0	0	0	2.806e-05	0	0	0.018	0.50676	D	0.115	0.36901	T	0.009	0.15093	B	0.016	0.17743	B	.	.	.	.	1	0.08975	N	.	.	.	5.57	0.00885	T	-2.98	0.63901	D	0.388	0.43126	-0.9207	0.45458	T	0.001	0.00408	T	9	0.0062720776	0.00141	T	.	.	.	0.099	0.28413	.	.	0.218845423259	0.21516	0.2566185313009967	0.25575	0.884575161911	0.69923	0.31632065773	0.12863	T	0.076917	0.35532	T	-0.5501	0.00291	T	-0.510308	0.21283	T	0.0162875932992256	0.00399	T	0.744226	0.36418	T	.	.	.	.	.	.	.	.	-11.318	0.81373	D	.	.	0.165	0.37063	B	.;.;.	.;.;.	1.685546	0.21476	15.22	0.38430128270477487	0.02591	0.04413	0.10003	N	AEFBHCI	0.090071	0.18254	N	-1.08415255846282	0.06935	0.3206675	-1.2503667729414	0.05126	0.2434891	0.999998478398119	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	2.67	-3.55	0.04343	-0.480000	0.06639	.	.	-0.116000	0.14526	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.332:0.2018:0.2683:0.1978	0.327	0.00290	934	0.15400	.;.;.	.	.	.	.	rs182216723	Likely benign	0	0	0	0	0	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	1132.53	80	chr6	31270058	.	A	T	1132.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.21;DP=525;ExcessHet=0;FS=7.737;MLEAC=1;MLEAF=0.071;MQ=58.28;MQRankSum=-5.546;QD=14.16;ReadPosRankSum=-2.176;SOR=1.519	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:49,31:80:99:0|1:31270037_A_AGGACAGCCAGGACAGCTG:1143,0,1964:31270037	6	0	1	0
chr6	31271082	31271082	G	C	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon3:c.C610G:p.Q204E,HLA-C:NM_002117:exon3:c.C610G:p.Q204E	.	0	1440	82	0	0	82	0.027684	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00176875394672	.	.	0.0012	0.0025	0.0003	0	0.0008	0.0012	0	0.0018	0.0011449	177	154602	rs796429498	0.0002	0.0006	0.0001	0.0002	0.0007	0.0001	0.0001	0.0003	0.0003	0.0006	0.0003	0.0005	0	0	0.0007	0.0001	0.0002	0.0001	1.508e-05	0.0004	0	3.15e-05	7.378e-05	0	0	.	.	7.378e-05	0	0	0	0	0	0	0	0	0	0.012	0.63226	D	0.137	0.33894	T	0.0	0.02946	B	0.002	0.06944	B	0.065850	0.02193	U	2.663580	0.995838	0.23771	N	.	.	.	9.55	0.00007	T	-1.96	0.46503	N	0.037	0.01498	-0.9192	0.45662	T	0.000	0.00039	T	10	0.03142172	0.01277	T	0.001769	0.03012	T	0.198	0.48105	.	.	0.264547087235	0.26054	0.06743973031026444	0.06681	0.534207440331	0.50835	0.27684956789	0.07057	T	0.037706	0.24575	T	-0.155279	0.27488	T	-0.460824	0.26509	T	0.0457982197301059	0.04748	T	0.158184	0.01407	T	.	.	.	.	.	.	.	.	-11.787	0.83797	D	.	.	0.098	0.16275	B	.;.;.	.;.;.	1.963241	0.24940	16.58	0.64928230975864176	0.07629	0.20245	0.20969	N	AEFBHCI	0.099613	0.20048	N	-0.567676259610921	0.19933	1.047056	-0.569709590382082	0.20285	1.092179	0.999994312471089	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	2.55	1.64	0.22949	0.047000	0.13941	.	.	0.594000	0.32500	0.047000	0.21291	0.000000	0.08366	0.076000	0.17014	0.0:0.2329:0.529:0.2381	5.117	0.14173	934	0.15400	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003788	0.010101	0.004076	0.000000	0.000000	0.000000	0.003049	0.003788	0.1429	1633.25	102	chr6	31271082	.	G	C	1633.25	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.01;DP=739;ExcessHet=0.3476;FS=16.55;MLEAC=2;MLEAF=0.143;MQ=55.97;MQRankSum=-5.167;QD=5.77;ReadPosRankSum=-3.421;SOR=1.704	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:88,14:102:99:.:.:314,0,3580:.	5	0	2	0
chr6	31271089	31271089	C	G	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon3:c.G603C:p.E201D,HLA-C:NM_002117:exon3:c.G603C:p.E201D	.	0	1433	89	0	0	89	0.0301184	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00327990498179	.	.	0.0012	0.0025	0.0003	0	0.0008	0.0012	0	0.0018	0.0011319	175	154602	rs17413678	0.0001	0.0006	0.0001	0.0002	0.0007	0.0001	0.0001	0.0004	0.0003	0.0007	0.0002	0.0005	0	3.395e-05	0.0003	0.0001	7.186e-05	0.0001	1.497e-05	0.0004	0	3.125e-05	7.252e-05	0	0	.	.	7.252e-05	0	0	0	0	0	0	0	0	0	0.014	0.59928	D	0.214	0.26549	T	0.0	0.02946	B	0.001	0.06944	B	0.463348	0.04883	N	1.613380	0.999565	0.21423	N	.	.	.	5.65	0.00784	T	-1.57	0.38924	N	0.068	0.04072	-0.9059	0.47343	T	0.000	0.00114	T	10	0.017638266	0.00378	T	0.00328	0.07268	T	0.222	0.51872	0.525	0.62967	0.18995819373	0.18626	0.10834935616144864	0.10763	0.446550992324	0.44524	0.299512207508	0.10328	T	0.039277	0.25133	T	-0.20222	0.20483	T	-0.528252	0.19461	T	0.0309767665415865	0.02142	T	0.309269	0.05988	T	.	.	.	.	.	.	.	.	-5.958	0.45926	T	.	.	0.112	0.25166	B	.;.;.	.;.;.	1.120113	0.15057	11.55	0.64405259372860457	0.07484	0.02110	0.06246	N	AEFBHCI	0.074243	0.14875	N	-1.34702669488082	0.03156	0.1405097	-1.25390729222346	0.05073	0.2408863	0.999991424455028	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	2.55	0.453	0.15851	-2.693000	0.00901	.	.	-0.340000	0.05703	0.000000	0.06391	0.000000	0.08366	0.015000	0.10482	0.0:0.3625:0.6374:0.0	10.048	0.41370	934	0.15400	MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007559	0.010101	0.013587	0.009709	0.000000	0.000000	0.003049	0.003788	0.1429	1770.25	109	chr6	31271089	.	C	G	1770.25	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.003;DP=767;ExcessHet=0.3476;FS=12.01;MLEAC=2;MLEAF=0.143;MQ=56.04;MQRankSum=-5.152;QD=5.84;ReadPosRankSum=-2.37;SOR=1.391	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:95,14:109:99:.:.:293,0,3816:.	5	0	2	0
chr6	31271193	31271193	T	A	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon3:c.A499T:p.T167S,HLA-C:NM_002117:exon3:c.A499T:p.T167S	.	1	1405	114	2	0	118	0.0403005	.	.	.	3893802	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.125	.	.	0.0335463	0.0171	0.0612	0.0102	0.0111	0.0070	0.0151	0.0148	0.0119	0.0013454	208	154602	rs142570222	0.0020	0.0089	0.0018	0.0022	0.0212	0.0019	0.0019	0.0195	0.0188	0.0212	0.0050	0.0157	0.0004	0.0009	0.0146	0.0010	0.0035	0.0035	0.0002	0.0092	0.0002	0.0003	0.0009	0.0001	0.0001	0.0005	0.0004	0.0009	0	0	0	0	0	0	8.097e-05	0	0	0.022	0.48642	D	0.207	0.27145	T	0.026	0.19406	B	0.041	0.23986	B	0.140159	0.18319	U	0.377560	1	0.08975	N	.	.	.	5.52	0.00903	T	-2.36	0.53577	N	0.201	0.22228	-0.9276	0.44487	T	0.002	0.00585	T	10	0.0053441823	0.00117	T	.	.	.	0.125	0.34456	0.712	0.84781	.	.	0.21857788014369137	0.21773	0.461279298288	0.45672	0.424038767815	0.28393	T	0.069533	0.33733	T	-0.490069	0.00649	T	-0.465695	0.25983	T	0.0170237571897238	0.00451	T	0.0849915	0.00624	T	.	.	.	.	.	.	.	.	-6.826	0.52752	T	.	.	0.169	0.37083	B	.;.;.	.;.;.	1.512869	0.19433	14.26	0.6761150136827524	0.08406	0.24039	0.22268	N	AEFDGBHCI	0.169307	0.29613	N	-0.613024539942439	0.18552	0.9640867	-0.655505705163185	0.18078	0.9641463	0.999999998364993	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	2.81	2.81	0.31971	1.346000	0.33569	.	.	-0.845000	0.02763	0.968000	0.34134	0.000000	0.08366	0.003000	0.05239	0.0:0.0:0.0:1.0	9.364	0.37375	934	0.15400	MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.062839	0.015152	0.107337	0.063725	0.100000	0.068966	0.018634	0.037879	0.07143	635.44	122	chr6	31271193	.	T	A	635.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.7;DP=938;ExcessHet=0;FS=2.983;MLEAC=1;MLEAF=0.071;MQ=50.97;MQRankSum=-0.723;QD=5.21;ReadPosRankSum=-1.231;SOR=1.047	GT:AD:DP:GQ:PL	0/1:97,25:122:99:646,0,3967	6	0	1	0
chr6	31356247	31356247	C	0	exonic	HLA-B	.	.	.	.	27	191	3	0	1301	1304	0.00779221	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	3231.94	56	chr6	31356247	.	C	*	3231.94	.	AC=3;AF=0.214;AN=14;BaseQRankSum=4.43;DP=503;ExcessHet=1.4958;FS=1.758;MLEAC=3;MLEAF=0.214;MQ=51.65;MQRankSum=-1.937;QD=7.5;ReadPosRankSum=-1.174;SOR=0.581	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:28,19:56:99:.:.:691,0,1123:.	5	1	1	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	0|1:0,51:79:99:0|1:31356809_C_T:3291,1152,1016:31356809	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	0/1:9,14:23:99:521,0,315	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	0/1:0,14:23:99:1142,375,315	2	1	4	0
chr6	31576785	31576785	C	T	exonic	TNF	.	nonsynonymous SNV	TNF:NM_000594:exon3:c.C251T:p.P84L	.	0	1456	62	4	0	70	0.0234742	.	.	.	710405	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.188	0.0119564785465	0.0019	0.000599042	0.0024	0.0003	0.0023	0.0001	0.0003	0.0028	0.0034	0.0041	0.0021345	330	154602	rs4645843	0.0018	0.0018	0.0017	0.0020	0.0184	0.0018	0.0018	0.0155	0.0145	0.0009	0.0029	0.0106	0	0.0002	0.0184	0.0014	0.0028	0.0045	0.0016	0.0016	0.0016	0.0016	0.0023	0.0015	0.0014	0.0017	0.0016	0.0003	0	0.0023	0.0109	0.0004	0.0002	0.0136	0.0020	0.0033	0.0021	0.145	0.25154	T	0.296	0.20615	T	0.007	0.14184	B	0.003	0.08700	B	0.084445	0.02389	N	1.798360	1	0.08975	N	1.25	0.31749	L	-2.04	0.85703	D	-0.66	0.19085	N	0.056	0.02759	-0.9293	0.44241	T	0.211	0.57067	T	10	0.0046066046	0.00096	T	0.011956	0.30096	T	0.188	0.46444	.	.	0.967945040658	0.96760	0.4098653570155833	0.40902	0.568028422092	0.53036	0.283045470715	0.07921	T	0.100786	0.40693	T	-0.488641	0.00661	T	-0.474409	0.25042	T	0.0327934610997307	0.02437	T	.	.	.	0.11627148	0.27428	0.08679749	0.20134	0.22171228	0.44754	0.104951486	0.25217	-3.833	0.21298	T	.	.	0.082	0.08754	B	.	.	1.914172	0.24313	16.35	0.91227581667590563	0.20484	0.04532	0.10164	N	AEFDBCI	0.061633	0.11797	N	-0.847107772778044	0.12121	0.588936	-0.844081313660175	0.13430	0.696636	0.999991238544582	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.62	0.019	0.13440	-0.178000	0.09775	.	.	0.592000	0.32167	0.000000	0.06391	0.000000	0.08366	0.982000	0.59238	0.535:0.364:0.0:0.101	5.542	0.16328	895	0.25842	.	.	.	.	.	.	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	0.022331	0.000000	0.048913	0.005319	0.000000	0.017241	0.006098	0.007576	0.07143	679.44	91	chr6	31576785	.	C	T	679.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.64;DP=278;ExcessHet=0;FS=0.848;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.47;ReadPosRankSum=1.51;SOR=0.814	GT:AD:DP:GQ:PL	0/1:63,28:91:99:690,0,1530	6	0	1	0
chr6	31625601	31625601	T	C	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon7:c.T749C:p.M250T,PRRC2A:NM_080686:exon7:c.T749C:p.M250T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.0178076993305	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.022e-07	6.841e-07	0	1.42e-06	9.161e-07	0	0	.	.	0	0	0	0	0	0	9.161e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.16	0.31427	T	0.985	0.61118	D	0.637	0.51992	P	0.000005	0.62929	D	0.000000	0.995498	0.42717	D	2.105	0.58435	M	4.53	0.01980	T	-4.28	0.76334	D	0.586	0.61680	-0.8368	0.52858	T	0.008	0.02720	T	10	0.43278176	0.57599	T	0.017808	0.39652	T	0.142	0.37995	0.195	0.10705	0.128874641272	0.12493	0.5487022548939708	0.54796	0.180877748463	0.20346	0.868078529835	0.92292	D	0.045246	0.27062	T	-0.000470291	0.51590	T	-0.238452	0.50949	T	0.941546738147736	0.61490	D	0.757724	0.38135	T	0.6803623	0.76989	0.726591	0.83849	0.6803623	0.76990	0.726591	0.83850	-10.319	0.75799	D	.	.	0.987	0.96107	P	.;.	.;.	3.901954	0.56841	23.8	0.93194787374129984	0.22862	0.76208	0.37359	D	AEFDBCI	0.190166	0.31740	N	0.457200889062192	0.64613	4.719805	0.475887910268732	0.66395	4.94659	0.999999757296763	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.06	5.06	0.67838	3.242000	0.51082	.	.	0.639000	0.52094	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:0.0:1.0	13.917	0.63410	878	0.29785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	1273.39	63	chr6	31625601	.	T	C	1273.39	.	AC=4;AF=0.5;AN=8;BaseQRankSum=-0.123;DP=510;ExcessHet=3.1439;FS=402.682;MLEAC=5;MLEAF=0.625;MQ=60;MQRankSum=0;QD=3.58;ReadPosRankSum=1.76;SOR=8.661	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:56,7:63:89:0|1:31625601_T_C:89,0,2096:31625601	0	0	4	3
chr6	31625602	31625602	G	A	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon7:c.G750A:p.M250I,PRRC2A:NM_080686:exon7:c.G750A:p.M250I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.0251130273271	7.7e-05	.	1.784e-05	0.0002	0	0	0	0	0	0	1.29e-05	2	154602	rs145609055	3.51e-06	4.788e-06	5.554e-06	1.42e-06	0.0001	1.03e-06	7.5e-07	4.163e-05	2.527e-05	0.0001	0	0	0	0	0	9.159e-07	0	0	6.577e-06	6.567e-06	1.286e-05	0	2.417e-05	0	0	.	.	2.417e-05	0	0	0	0	0	0	0	0	0	0.123	0.27544	T	0.045	0.49390	D	0.817	0.45613	P	0.292	0.40739	B	0.000005	0.62929	D	0.000000	0.999301	0.46608	D	2.105	0.58435	M	4.62	0.01834	T	-1.88	0.43906	N	0.361	0.40565	-0.6283	0.63643	T	0.004	0.01400	T	10	0.19789547	0.35739	T	0.025113	0.48090	D	0.179	0.44899	0.192	0.10304	0.19168177325	0.18762	0.40434125802200627	0.40350	0.17321795193	0.19509	0.804894983768	0.82710	D	0.021964	0.17018	T	-0.199437	0.20885	T	-0.287586	0.46022	T	0.45686399936676	0.31050	T	0.867413	0.56831	D	0.274247	0.50490	0.26731342	0.52588	0.274247	0.50490	0.26731342	0.52587	-5.343	0.40366	T	.	.	0.916	0.88221	P	.;.	.;.	4.189641	0.63134	24.5	0.9887765022119781	0.47771	0.95609	0.65407	D	AEFDBCI	0.573860	0.57688	D	0.38079905834961	0.60382	4.226512	0.455960616804997	0.65101	4.781292	0.999999999999631	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.06	5.06	0.67838	3.736000	0.54774	.	.	0.650000	0.52971	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:0.0:1.0:0.0	17.348	0.87202	878	0.29785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	1270.39	63	chr6	31625602	.	G	A	1270.39	.	AC=4;AF=0.5;AN=8;BaseQRankSum=-1.302;DP=507;ExcessHet=3.1439;FS=403.706;MLEAC=5;MLEAF=0.625;MQ=60;MQRankSum=0;QD=3.56;ReadPosRankSum=1.7;SOR=8.661	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:56,7:63:89:0|1:31625601_T_C:89,0,2096:31625601	0	0	4	3
chr6	32084509	32084509	T	C	exonic	TNXB	.	nonsynonymous SNV	TNXB:NM_001365276:exon8:c.A3349G:p.I1117V,TNXB:NM_019105:exon8:c.A3349G:p.I1117V	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.00404409277271	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1206170488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.488	0.08042	T	0.223	0.25670	T	.	.	.	.	.	.	0.011090	0.29665	N	0.157455	1	0.08975	N	.	.	.	0.6	0.53731	T	-0.55	0.16799	N	0.161	0.16864	-0.9398	0.42648	T	0.022	0.09375	T	10	0.10542533	0.19487	T	0.004044	0.09618	T	0.083	0.24192	0.628	0.76366	0.082315109003	0.07666	.	.	.	.	0.376017332077	0.21691	T	0.049554	0.28342	T	-0.363473	0.03937	T	-0.590752	0.13601	T	0.178008481860161	0.19109	T	0.579042	0.20891	T	0.03490001	0.04007	0.03757916	0.03441	0.03490001	0.04007	0.03757916	0.03440	-2.443	0.05403	T	0.1244784940056053	0.12220	0.096	0.33527	B	.;.;.;.	.;.;.;.	0.203901	0.05883	2.323	0.40594767169986945	0.02875	0.01905	0.05835	N	AEFBI	0.067491	0.13270	N	-0.954541453763761	0.09591	0.4545985	-0.991296341291336	0.09980	0.4997959	0.999587630504933	0.40607	0.549168	0.22868	0	0.627178	0.54094	0	0.576033	0.28219	0	0.530356	0.10902	0	.	.	4.23	0.376	0.15424	0.055000	0.14112	.	.	-0.122000	0.13826	0.025000	0.20085	0.000000	0.08366	0.135000	0.19760	0.0:0.3643:0.0:0.6357	7.727	0.27930	911	0.21964	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	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	94.53	50	chr6	32084509	.	T	C	94.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.552;DP=350;ExcessHet=0;FS=111.78;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=1.89;ReadPosRankSum=1.76;SOR=6.803	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:40,10:50:99:0|1:32084509_T_C:105,0,1451:32084509	6	0	1	0
chr6	32129698	32129698	T	C	exonic	FKBPL	.	nonsynonymous SNV	FKBPL:NM_022110:exon2:c.A83G:p.N28S	.	0	1469	52	1	0	54	0.0180481	.	.	.	3220457	FKBPL-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.102	.	0.0034	0.0105831	0.0063	0.0065	0.0049	0.0301	0.0009	0.0027	0.0055	0.0116	0.0060219	931	154602	rs117160266	0.0043	0.0043	0.0042	0.0045	0.0147	0.0042	0.0042	0.0137	0.0133	0.0050	0.0056	0.0008	0.0147	0.0009	0.0075	0.0035	0.0044	0.0118	0.0045	0.0045	0.0045	0.0045	0.0176	0.0042	0.0041	0.0147	0.0136	0.0063	0.0044	0.0046	0.0003	0.0176	0.0006	0.0102	0.0027	0.0057	0.0108	0.146	0.25055	T	0.536	0.09897	T	0.118	0.26577	B	0.017	0.18140	B	0.881190	0.08754	N	0.940554	1	0.08975	N	1.04	0.26193	L	-1.33	0.79854	T	-0.45	0.14782	N	0.112	0.09914	-0.9037	0.47595	T	0.154	0.48516	T	10	0.003453523	0.00061	T	.	.	.	0.102	0.29158	.	.	0.964397502001	0.96401	0.12206054170897931	0.12133	0.343234087858	0.36255	0.339676707983	0.16389	T	0.001858	0.01270	T	-0.560478	0.00252	T	-0.557592	0.16603	T	0.00333949956713115	0.00035	T	0.476552	0.14308	T	0.03655549	0.04519	0.05028008	0.07861	0.03655549	0.04518	0.05028008	0.07861	-3.286	0.13558	T	.	.	0.098	0.16275	B	.	.	0.649570	0.10179	6.921	0.65107643235153789	0.07679	0.03055	0.07955	N	AEFGBHCI	0.070669	0.14039	N	-0.860103146306415	0.11801	0.5715824	-0.884630442497938	0.12457	0.6409084	0.999979226538229	0.50053	0.542737	0.22433	0	0.516746	0.08562	0	0.685571	0.62057	0	0.627883	0.49187	0	.	.	4.23	3.03	0.34070	0.352000	0.19851	.	.	0.665000	0.62972	0.001000	0.13787	0.003000	0.18671	0.472000	0.28386	0.202:0.0:0.0:0.798	6.979	0.23874	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	0	0	1	0	0.006536	0.000000	0.004076	0.010638	0.000000	0.008621	0.009146	0.003788	0.07143	742.46	60	chr6	32129698	.	T	C	742.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.248;DP=244;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.37;ReadPosRankSum=0.68;SOR=0.576	GT:AD:DP:GQ:PL	0/1:30,30:60:99:753,0,760	6	0	1	0
chr6	32149340	32149340	G	A	exonic	PRRT1	.	nonsynonymous SNV	PRRT1:NM_030651:exon4:c.C803T:p.A268V,PRRT1:NM_001363780:exon6:c.C560T:p.A187V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.972	0.567365613894	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.78490	D	0.0	0.92824	D	0.997	0.90584	D	0.992	0.88582	D	.	.	.	.	0.999989	0.54805	D	2.54	0.74080	M	-3.35	0.94022	D	-3.87	0.72594	D	0.898	0.90476	0.923	0.96008	D	0.861	0.95383	D	9	0.95940363	0.95333	D	0.567366	0.96074	D	0.972	0.99695	0.823	0.93527	0.917865689854	0.91703	0.9923644020631984	0.99232	.	.	0.796729326248	0.81466	T	0.835489	0.96113	D	0.505881	0.94462	D	0.488887	0.94383	D	0.992065455416527	0.82458	D	0.919208	0.70896	D	0.13374771	0.31098	0.32801107	0.58694	0.13374771	0.31097	0.32801107	0.58694	-7.94	0.60660	D	.	.	0.996	0.95780	P	.;.	.;.	5.923481	0.94075	33	0.9993780266695157	0.99698	0.97115	0.72777	D	AEFDBI	0.943053	0.94840	D	0.830813058453111	0.87991	9.413316	0.794955670732566	0.89439	9.975905	0.999999999998126	0.74766	0.652421	0.48094	0	0.610034	0.51514	0	0.64067	0.45733	0	0.56751	0.32155	0	.	.	4.99	4.99	0.65942	8.760000	0.91349	.	.	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	15.785	0.78069	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	.	.	.	.	.	.	.	.	0.07143	107.45	78	chr6	32149340	.	G	A	107.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.303;DP=380;ExcessHet=0;FS=38.36;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=1.38;ReadPosRankSum=0.419;SOR=4.799	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:68,10:78:99:0|1:32149327_G_T:118,0,1498:32149327	6	0	1	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	0/1:26,22:48:99:553,0,644	5	0	2	0
chr6	32521978	32521979	GT	0	exonic	HLA-DRB5	.	.	.	.	198	662	145	14	503	676	0.115564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	3108.52	40	chr6	32521978	.	GT	*	3108.52	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.92;DP=633;ExcessHet=1.383;FS=27.359;MLEAC=2;MLEAF=0.167;MQ=49.49;MQRankSum=1.1;QD=7.91;ReadPosRankSum=-0.427;SOR=1.286	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:8,32:40:99:0|1:32521957_G_A:1320,0,240:32521957	4	0	2	1
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	1|1:0,8:8:24:1|1:32522075_A_G:360,24,0:32522075	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|0:0,4:23:99:0|1:32522156_T_*:966,798,786:32522156	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|0:0,4:23:99:0|1:32522156_T_*:966,798,786:32522156	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|0:0,4:23:99:0|1:32522156_T_*:966,798,786:32522156	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|1:0,37:37:99:1|1:32530183_CTT_C:1624,111,0:32530183	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|1:0,37:37:99:1|1:32530183_CTT_C:1624,111,0:32530183	2	4	1	0
chr6	32584171	32584171	G	0	exonic;splicing	HLA-DRB1;HLA-DRB1	NM_001243965:exon3:c.281+1C>0;NM_001243965:exon4:c.282-1C>0	.	.	.	212	511	370	121	308	920	0.374541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	13171.6	92	chr6	32584171	.	G	*	13171.6	.	AC=3;AF=0.25;AN=12;BaseQRankSum=0.568;DP=825;ExcessHet=3.1439;FS=6.614;MLEAC=3;MLEAF=0.25;MQ=52.25;MQRankSum=6.14;QD=17.47;ReadPosRankSum=1.59;SOR=0.312	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:28,64:92:99:0|1:32584162_G_T:2583,0,963:32584162	4	1	1	1
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	0|1:0,23:93:99:0|1:32584162_G_T:3894,2930,2861:32584162	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|1:0,70:93:84:1|1:32584162_G_T:3013,84,0:32584162	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	1/0:0,116:243:99:.:.:10249,5336,4984:.	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	1|1:0,74:74:99:1|1:32641430_C_T:3330,223,0:32641430	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	1|1:0,74:74:99:1|1:32641430_C_T:3330,223,0:32641430	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	1|1:0,68:68:99:1|1:32641430_C_T:3060,205,0:32641430	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	1|1:0,68:68:99:1|1:32641430_C_T:3060,205,0:32641430	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	1|1:0,58:58:99:1|1:32641476_G_A:2610,175,0:32641476	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	1|1:0,64:64:99:1|1:32641476_G_A:2739,193,0:32641476	2	2	3	0
chr6	32664917	32664917	C	A	exonic	HLA-DQB1	.	nonsynonymous SNV	HLA-DQB1:NM_001243961:exon2:c.G260T:p.R87L,HLA-DQB1:NM_002123:exon2:c.G260T:p.R87L	.	41	553	66	57	805	985	0.139969	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	.	.	.	0.0178	0.0094	0.0074	0.0044	0.0110	0.0123	0.0177	0.0613	0.0308211	4765	154602	rs1130380	0.0002	0.0028	0.0002	0.0002	0.0006	0.0001	0.0001	0.0005	0.0004	6.946e-05	7.264e-05	8.514e-05	0	0.0002	0.0004	0.0001	0.0001	0.0006	6.32e-05	0.0064	1.542e-05	0.0001	6.948e-05	3.113e-05	2.259e-05	2.321e-05	1.392e-05	2.998e-05	0	0	0.0010	0	0	0	6.948e-05	0	0	0.065	0.44029	T	0.021	0.58613	D	0.001	0.09854	B	0.004	0.10090	B	0.941407	0.08351	U	0.961307	0.979372	0.39555	D	.	.	.	7.87	0.00331	T	-5.88	0.88699	D	0.129	0.12341	-1.0646	0.10642	T	0.000	0.00039	T	10	0.003316313	0.00057	T	.	.	.	0.088	0.25558	.	.	.	.	0.3182965296469853	0.31742	0.691323969143	0.60588	0.299167692661	0.10277	T	0.017577	0.14314	T	-0.655468	0.00067	T	-0.649226	0.09008	T	0.02403772754452	0.01149	T	0.162684	0.01473	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.23219	B	.;.;.;.	.;.;.;.	1.177431	0.15679	12.02	0.80016420578156267	0.13006	0.03612	0.08845	N	ALL	0.215815	0.34113	N	-2.29836096021619	0.00046	0.001970145	-2.22797978748312	0.00097	0.004250061	0.999999969366938	0.74766	0.652421	0.48094	0	0.52208	0.09955	0	0.64067	0.45733	0	0.530356	0.10902	0	.	.	4.06	0.193	0.14419	0.297000	0.18856	.	.	-4.622000	0.00024	0.032000	0.20554	0.000000	0.08366	0.000000	0.00833	0.0:0.4718:0.2098:0.3184	5.435	0.15776	940	0.13648	MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3571	20647.3	120	chr6	32664917	.	C	A	20647.3	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-0.131;DP=1018;ExcessHet=4.7409;FS=1.742;MLEAC=5;MLEAF=0.357;MQ=59.02;MQRankSum=0;QD=20.5;ReadPosRankSum=0.072;SOR=0.685	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:0,21:120:99:.:.:5039,4157,4094:.	3	1	3	0
chr6	32664926	32664926	G	A	exonic	HLA-DQB1	.	nonsynonymous SNV	HLA-DQB1:NM_001243961:exon2:c.C251T:p.P84L,HLA-DQB1:NM_002123:exon2:c.C251T:p.P84L	.	20	1284	160	58	0	276	0.0970464	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	.	.	.	0.0182	0.0107	0.0076	0.0048	0.0114	0.0123	0.0151	0.0628	0.0296956	4591	154602	rs9274395	0.0003	0.0032	0.0003	0.0003	0.0011	0.0003	0.0003	0.0009	0.0008	7.464e-05	0.0002	0.0001	0	0.0003	0.0006	0.0003	0.0003	0.0011	0.0002	0.0078	0.0002	0.0002	0.0006	0.0001	0.0001	0.0001	7.089e-05	0.0002	0	0	0.0014	0	0	0.0046	0.0002	0	0.0006	0.069	0.40068	T	0.043	0.49942	D	0.052	0.22494	B	0.029	0.21540	B	0.099669	0.19922	U	0.369227	0.722216	0.33630	D	.	.	.	8.26	0.00269	T	-3.84	0.75058	D	0.15	0.15328	-0.9881	0.33077	T	0.001	0.00287	T	10	0.006448716	0.00146	T	.	.	.	0.119	0.33137	.	.	.	.	0.18514000446126433	0.18431	0.566269477264	0.52927	0.319175481796	0.13295	T	0.014743	0.12495	T	-0.159806	0.26790	T	-0.467326	0.25804	T	0.051758160492758	0.05806	T	0.0806919	0.00607	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.25656	B	.;.;.;.	.;.;.;.	1.397222	0.18105	13.55	0.99226900122916373	0.56089	0.07262	0.13285	N	ALL	0.271360	0.38723	N	-0.744876639371783	0.14773	0.7387562	-0.902920104954735	0.12025	0.6161842	0.999999967135338	0.74766	0.652421	0.48094	0	0.504199	0.08210	0	0.64067	0.45733	0	0.530356	0.10902	0	.	.	4.06	0.064	0.13666	-0.204000	0.09426	.	.	-0.499000	0.05024	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.0:0.5119:0.4881	10.579	0.44436	940	0.13648	MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal	.	.	.	.	rs9274395	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3571	4522.09	121	chr6	32664926	.	G	A	4522.09	.	AC=5;AF=0.357;AN=14;BaseQRankSum=2.97;DP=1022;ExcessHet=0.4813;FS=10.479;MLEAC=5;MLEAF=0.357;MQ=56.49;MQRankSum=-3.201;QD=13.42;ReadPosRankSum=-2.385;SOR=0.673	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:96,25:121:99:0|1:32664911_T_G:761,0,3956:32664911	3	1	3	0
chr6	33007137	33007137	C	A	exonic	HLA-DOA	.	nonsynonymous SNV	HLA-DOA:NM_002119:exon4:c.G692T:p.G231V	.	408	1104	10	0	0	10	0.00450857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.207	0.015832190313	0.0013	0.000199681	0.0018	0.0001	0.0015	0	0.0011	0.0026	0.0067	0.0008	0.0015912	246	154602	rs141887419	0.0013	0.0013	0.0013	0.0014	0.0040	0.0013	0.0013	0.0027	0.0023	0.0001	0.0015	0.0255	7.557e-05	0.0011	0.0040	0.0008	0.0026	0.0011	0.0014	0.0014	0.0014	0.0014	0.0020	0.0012	0.0012	0.0014	0.0012	2.405e-05	0	0.0020	0.0259	0	0.0016	0.0034	0.0010	0.0024	0.0002	0.0	0.91255	D	0.001	0.83351	D	0.986	0.61523	D	0.754	0.56161	P	0.000001	0.84330	D	0.055623	1	0.81001	D	.	.	.	4.34	0.02341	T	-5.85	0.88495	D	0.639	0.65159	-1.1539	0.00913	T	0.023	0.09968	T	10	0.008959204	0.00203	T	0.015832	0.36777	T	0.207	0.49555	.	.	0.245101548738	0.24120	0.466580494877547	0.46577	0.867106616012	0.69253	0.340403318405	0.16499	T	0.235749	0.60308	T	-0.294374	0.09201	T	-0.220252	0.52714	T	0.077117112410018	0.09614	T	.	.	.	0.43390742	0.63007	0.31397367	0.57392	0.43390742	0.63008	0.31397367	0.57391	-10.808	0.78594	D	.	.	0.163	0.35931	B	.	.	3.530082	0.49522	22.8	0.99701618943290538	0.80660	0.96381	0.68860	D	AEFDBI	0.501753	0.53446	D	0.686312535578109	0.78735	6.931957	0.625188012090597	0.76776	6.553385	0.999998229885003	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.542086	0.14980	0	.	.	4.81	4.81	0.61401	1.983000	0.40270	.	.	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.757000	0.36037	0.0:1.0:0.0:0.0	15.777	0.78003	895	0.25842	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006536	0.005051	0.001359	0.000000	0.000000	0.000000	0.015244	0.015152	0.08333	390.27	43	chr6	33007137	.	C	A	390.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.09;DP=221;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.08;ReadPosRankSum=0.572;SOR=0.656	GT:AD:DP:GQ:PL	0/1:26,17:43:99:400,0,600	5	0	1	1
chr6	33303829	33303829	C	G	exonic	TAPBP	.	nonsynonymous SNV	TAPBP:NM_172208:exon7:c.G1461C:p.W487C	Bare lymphocyte syndrome, type I, Autosomal recessive	0	1476	44	2	0	48	0.016	.	.	.	3886708	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.026	.	0.0020	0.00279553	0.0052	0.0026	0.0055	0.0056	0.0021	0.0032	0.0072	0.0115	0.0019211	297	154602	rs145837211	0.0016	0.0016	0.0014	0.0018	0.0127	0.0016	0.0015	0.0103	0.0095	0.0031	0.0027	0.0051	0.0014	0.0010	0.0127	0.0009	0.0022	0.0077	0.0020	0.0020	0.0017	0.0022	0.0048	0.0018	0.0017	0.0033	0.0028	0.0020	0	0.0021	0.0072	0.0025	0.0006	0.0204	0.0015	0.0043	0.0048	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.32	0.35219	T	-0.23	0.10656	N	0.176	0.18920	-0.9904	0.32500	T	0.022	0.09559	T	8	0.003785193	0.00071	T	.	.	.	0.026	0.05648	0.584	0.71118	0.0986583533028	0.09354	0.2775634209155518	0.27669	1.37107048066	0.84535	0.263246119022	0.05283	T	0.006466	0.05902	T	-0.578465	0.00197	T	-0.598856	0.12908	T	0.0680362654739556	0.08373	T	0.49795	0.15494	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.401	0.59622	A	.	.	0.513929	0.08826	5.606	0.94410838252651941	0.24808	0.04522	0.10151	N	AEFBCI	0.030595	0.03109	N	-0.883694909074238	0.11230	0.5408289	-0.971091330464309	0.10438	0.5257059	0.98929254224207	0.31780	0.631515	0.41029	0	0.697927	0.68747	0	0.696353	0.63694	0	0.635551	0.53088	0	.	.	3.64	0.854	0.18144	-0.061000	0.11650	0.068000	0.14222	0.589000	0.31548	0.001000	0.13787	0.000000	0.08366	0.021000	0.11733	0.1946:0.4782:0.2117:0.1155	2.115	0.03486	649	0.63102	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.012527	0.005051	0.014946	0.021277	0.000000	0.017241	0.000000	0.011364	0.07143	1649.45	118	chr6	33303829	.	C	G	1649.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.613;DP=294;ExcessHet=0;FS=2.389;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.98;ReadPosRankSum=0.551;SOR=0.941	GT:AD:DP:GQ:PL	0/1:48,70:118:99:1660,0,1082	6	0	1	0
chr6	33670361	33670361	C	A	exonic	ITPR3	.	nonsynonymous SNV	ITPR3:NM_002224:exon19:c.C2226A:p.D742E	.	411	1081	28	2	0	32	0.0145852	.	.	.	699552	not_provided|ITPR3-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.552	.	0.0050	0.0061901	0.0032	0.0129	0.0013	0.0020	0.0009	0.0013	0.0022	0.0076	0.0028654	443	154602	rs2229633	0.0016	0.0016	0.0014	0.0018	0.0110	0.0015	0.0015	0.0101	0.0097	0.0110	0.0028	0.0061	0.0013	0.0010	0.0092	0.0007	0.0019	0.0068	0.0045	0.0045	0.0047	0.0042	0.0114	0.0042	0.0041	0.0106	0.0102	0.0114	0	0.0031	0.0086	0.0021	0.0006	0.0034	0.0012	0.0047	0.0041	0.179	0.22053	T	0.147	0.32783	T	0.999	0.77913	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	0.997423	0.43877	D	2.305	0.65957	M	-3.04	0.92357	D	-3.0	0.62343	D	0.629	0.73735	0.374	0.88703	D	0.734	0.90891	D	10	0.0137833655	0.00291	T	.	.	.	0.552	0.81485	0.275	0.22687	0.934565858499	0.93389	0.6374912199327021	0.63683	1.17388174223	0.79838	0.734442591667	0.72156	T	0.672051	0.90277	D	-0.226168	0.17158	T	-0.0866196	0.64416	T	0.0238974007932212	0.01131	T	0.969303	0.88939	D	0.48998684	0.66502	0.24656922	0.50169	0.48998684	0.66503	0.24656922	0.50168	-10.948	0.79372	D	.	.	0.949	0.86952	P	.;.	.;.	3.926533	0.57362	23.8	0.9967623208858839	0.78912	0.93438	0.58217	D	AEFGBI	0.555448	0.56589	D	0.182642170245388	0.50367	3.227275	0.133167075273723	0.46257	2.87456	0.999966465697299	0.48965	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	4.81	2.94	0.33188	2.131000	0.41696	1.417000	0.26331	-0.187000	0.09635	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.8247:0.0:0.1753	9.947	0.40783	511	0.75131	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.07143	1783.44	134	chr6	33670361	.	C	A	1783.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.64;DP=325;ExcessHet=0;FS=2.184;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.31;ReadPosRankSum=1.8;SOR=0.573	GT:AD:DP:GQ:PL	0/1:59,75:134:99:1794,0,1224	6	0	1	0
chr6	36319517	36319517	G	A	exonic	BNIP5	.	nonsynonymous SNV	BNIP5:NM_001010903:exon11:c.C1762T:p.H588Y	.	425	1055	40	2	0	44	0.0204271	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	.	0.0004	0.00499201	0.0048	0.0002	0.0014	0.0001	0	0.0008	0.0033	0.0311	0.0042108	651	154602	rs141156956	0.0024	0.0024	0.0014	0.0034	0.0310	0.0023	0.0023	0.0300	0.0296	8.961e-05	0.0009	0.0017	2.519e-05	3.744e-05	0.0087	0.0005	0.0030	0.0310	0.0017	0.0017	0.0012	0.0022	0.0328	0.0015	0.0014	0.0286	0.0270	0.0001	0	0.0010	0.0020	0.0004	9.414e-05	0.0204	0.0008	0.0009	0.0328	1.0	0.00964	T	1.0	0.01155	T	0.989	0.62824	D	0.689	0.53736	P	0.121568	0.02730	N	1.775450	1	0.08975	N	1.59	0.40313	L	0.92	0.44461	T	-3.18	0.64478	D	0.24	0.27077	-1.0831	0.06758	T	0.084	0.32900	T	10	0.004032612	0.00078	T	.	.	.	0.053	0.14996	.	.	0.0762999501168	0.06990	0.07542998746863407	0.07478	0.0447508738287	0.04840	.	.	.	0.11461	0.43256	T	-0.657847	0.00065	T	-0.693353	0.06197	T	0.0419195599550089	0.04041	T	0.349965	0.07784	T	0.06261554	0.13096	0.056656428	0.10162	0.06261554	0.13096	0.056656428	0.10161	-3.888	0.22122	T	.	.	0.094	0.14568	B	.	.	1.114042	0.14994	11.50	0.95584321604298716	0.27297	0.03715	0.09002	N	AEFDGBHCI	0.076169	0.15316	N	-0.188137897838867	0.33628	1.909955	-0.349527260884552	0.26523	1.465581	0.999999975344712	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.491513	0.07944	0	0.530356	0.10902	0	.	.	5.55	1.02	0.19102	0.141000	0.15897	-1.329000	0.05702	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.440000	0.27671	0.086:0.0:0.387:0.527	6.729	0.22564	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	0.010081	0.005051	0.004076	0.017544	0.000000	0.017241	0.003067	0.018939	0.1667	3130.87	94	chr6	36319517	.	G	A	3130.87	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.341;DP=406;ExcessHet=0.4139;FS=3.388;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.86;ReadPosRankSum=0.787;SOR=0.507	GT:AD:DP:GQ:PL	0/1:48,46:94:99:1190,0,1226	4	0	2	1
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	0/1:34,22:56:99:121,0,533	1	0	5	1
chr6	44276159	44276159	A	C	exonic	TMEM151B	.	nonsynonymous SNV	TMEM151B:NM_001137560:exon3:c.A1333C:p.I445L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.243	0.356119215711	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.603	0.05584	T	0.918	0.02891	T	0.012	0.16265	B	0.018	0.18489	B	0.000258	0.46924	D	0.173717	0.997515	0.81001	D	1.14	0.29013	L	.	.	.	0.09	0.05917	N	0.429	0.46835	-1.0510	0.14119	T	0.065	0.26983	T	9	0.16996357	0.31632	T	0.356119	0.92394	D	0.243	0.54921	0.113	0.02240	0.0954503805726	0.09146	0.30910439168479603	0.30823	.	.	0.97451877594	0.99991	D	0.004165	0.03571	T	0.0262202	0.55219	T	-0.200113	0.54636	T	0.98872184753418	0.79021	D	0.79872	0.44372	T	0.14567277	0.33381	0.08761994	0.20378	0.14567277	0.33381	0.08761994	0.20377	-1.727	0.02301	T	.	.	0.432	0.61275	A	.	.	2.845699	0.37553	20.5	0.90168655020142274	0.19446	0.96151	0.67766	D	AEFDBHCIJ	0.737594	0.68274	D	-0.213033235757761	0.32598	1.840137	-0.0412149172125383	0.37872	2.22345	0.99999999894989	0.74766	0.700653	0.57754	0	0.59043	0.45803	0	0.717052	0.78885	0	0.554799	0.18163	0	.	.	4.18	4.18	0.48473	6.476000	0.73497	10.396000	0.83319	0.620000	0.51751	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	1.0:0.0:0.0:0.0	13.417	0.60423	593	0.68665	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	283.63	21	chr6	44276159	.	A	C	283.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.513;DP=147;ExcessHet=0;FS=1.74;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.51;ReadPosRankSum=1.21;SOR=0.905	GT:AD:DP:GQ:PL	0/1:9,12:21:99:294,0,234	6	0	1	0
chr6	46835422	46835422	C	T	exonic	MEP1A	.	nonsynonymous SNV	MEP1A:NM_005588:exon13:c.C1957T:p.R653W	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.229	0.0613074972728	.	.	2.855e-05	0	9.984e-05	0	0	1.716e-05	0	6.89e-05	1.94e-05	3	154602	rs754938190	1.85e-05	1.847e-05	2.181e-05	1.515e-05	3.497e-05	1.267e-05	1.086e-05	1.296e-05	1.107e-05	0	2.25e-05	0	2.522e-05	0	0	1.98e-05	0	3.497e-05	3.285e-05	3.283e-05	3.853e-05	2.69e-05	7.235e-05	1.261e-05	7.98e-06	1.918e-05	1.032e-05	7.235e-05	0	6.546e-05	0	0	0	0	1.47e-05	0	0	0.003	0.68238	D	0.002	0.79402	D	1.0	0.90584	D	0.997	0.88582	D	0.013044	0.28968	N	0.411067	0.999118	0.46101	D	0	0.06538	N	1.6	0.28604	T	-2.9	0.60827	D	0.722	0.72388	-0.9620	0.38800	T	0.112	0.40122	T	10	0.62965584	0.68443	D	0.061307	0.68287	D	0.229	0.52916	0.341	0.33302	0.609393688558	0.60625	0.4858937923288893	0.48509	0.529786557781	0.50535	0.442076921463	0.30861	T	0.433634	0.78100	T	-0.0592793	0.43022	T	-0.222297	0.52516	T	0.736045126062897	0.42526	D	0.90061	0.65471	D	0.11959589	0.28157	0.1363861	0.32628	0.11959589	0.28157	0.1363861	0.32627	-9.04	0.67955	D	.	.	0.204	0.44293	B	.;.	.;.	4.922378	0.81085	27.5	0.99904493613411383	0.97576	0.76045	0.37268	D	AEFBI	0.482506	0.52334	N	0.488767793925981	0.66431	4.94945	0.405934804366923	0.61932	4.400701	0.0011297815247058	0.08250	0.525926	0.21836	0	0.59043	0.45803	0	0.615948	0.41167	0	0.542086	0.14980	0	.	.	5.43	4.51	0.54589	1.377000	0.33923	2.052000	0.30351	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.200000	0.21896	0.2692:0.6421:0.0:0.0887	6.398	0.20825	618	0.66225	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1409.44	103	chr6	46835422	.	C	T	1409.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.789;DP=330;ExcessHet=0;FS=3.658;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.68;ReadPosRankSum=0.987;SOR=0.424	GT:AD:DP:GQ:PL	0/1:44,59:103:99:1420,0,1012	6	0	1	0
chr6	56459090	56459090	C	G	exonic	DST	.	nonsynonymous SNV	DST:NM_015548:exon84:c.G15431C:p.R5144P,DST:NM_001374730:exon93:c.G16043C:p.R5348P,DST:NM_183380:exon94:c.G16409C:p.R5470P,DST:NM_001144770:exon95:c.G16529C:p.R5510P,DST:NM_001144769:exon97:c.G16943C:p.R5648P,DST:NM_001374729:exon98:c.G22301C:p.R7434P,DST:NM_001374722:exon103:c.G23300C:p.R7767P,DST:NM_001374734:exon103:c.G23327C:p.R7776P,DST:NM_001374736:exon104:c.G23372C:p.R7791P	Epidermolysis bullosa simplex, autosomal recessive 2, Autosomal recessive	0	1520	1	0	1	2	0.000328839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.338	0.0367912559241	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	.	.	.	1.0	0.90584	D	0.995	0.83170	D	0.000317	0.45977	D	0.000000	.	.	.	.	.	.	0.21	0.68474	T	-5.7	0.90490	D	0.475	0.67132	0.046	0.83172	D	0.525	0.82307	D	9	0.39734918	0.55321	T	0.036791	0.57211	D	0.402	0.71558	.	.	0.604937310709	0.60177	0.6908610292476667	0.69026	1.64874246237	0.89509	0.541585326195	0.44669	T	0.09346	0.39215	T	0.206483	0.74500	D	0.0588224	0.74168	D	0.99935108423233	0.97079	D	0.979602	0.93000	D	.	.	.	.	.	.	.	.	-6.849	0.52923	T	.	.	.	.	.	.;.;.;.;.	.;.;.;.;.	3.622274	0.51264	23.1	0.95338727472655227	0.26708	0.98578	0.84304	D	AEFDBI	0.943129	0.94856	D	0.636822764993539	0.75520	6.320255	0.681289129457514	0.80961	7.41641	0.999999999998875	0.74766	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.78	5.78	0.91418	7.905000	0.86479	7.689000	0.65692	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.999	0.97403	146	0.94180	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1016.46	84	chr6	56459090	.	C	G	1016.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.64;DP=258;ExcessHet=0;FS=0.829;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.1;ReadPosRankSum=-0.396;SOR=0.838	GT:AD:DP:GQ:PL	0/1:38,46:84:99:1027,0,796	6	0	1	0
chr6	56640283	56640283	G	C	exonic	DST	.	nonsynonymous SNV	DST:NM_001723:exon4:c.C739G:p.P247A,DST:NM_015548:exon4:c.C739G:p.P247A,DST:NM_001374729:exon14:c.C1717G:p.P573A,DST:NM_001374730:exon14:c.C1717G:p.P573A,DST:NM_183380:exon14:c.C1717G:p.P573A,DST:NM_001144770:exon15:c.C1837G:p.P613A,DST:NM_001144769:exon17:c.C2251G:p.P751A,DST:NM_001374722:exon18:c.C2350G:p.P784A,DST:NM_001374734:exon18:c.C2377G:p.P793A,DST:NM_001374736:exon18:c.C2350G:p.P784A	Epidermolysis bullosa simplex, autosomal recessive 2, Autosomal recessive	2	1475	43	2	0	47	0.0156823	.	.	.	308408	DST-related_disorder|Hereditary_sensory_and_autonomic_neuropathy_type_6|Epidermolysis_bullosa_simplex_3,_localized_or_generalized_intermediate,_with_BP230_deficiency|not_provided|Inborn_genetic_diseases	.|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653,Orphanet:314381|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425,Orphanet:412181|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.033	.	0.0018	0.00299521	0.0033	0.0004	0.0012	0	0.0002	0.0030	0.0022	0.0107	0.0031177	482	154602	rs151271595	0.0028	0.0028	0.0025	0.0030	0.0102	0.0027	0.0027	0.0096	0.0094	0.0006	0.0014	0.0029	2.519e-05	0.0004	0.0095	0.0024	0.0033	0.0102	0.0018	0.0018	0.0017	0.0019	0.0097	0.0016	0.0016	0.0075	0.0067	0.0006	0	0.0023	0.0037	0.0002	0	0.0034	0.0022	0.0038	0.0097	0.052	0.52492	T	0.429	0.17217	T	0.023	0.25584	B	0.029	0.28327	B	0.073886	0.21317	N	0.395716	.	.	.	1.24	0.30952	L	1.06	0.82715	T	-1.84	0.59545	N	0.124	0.18512	-1.0564	0.12672	T	0.133	0.44661	T	9	0.0032327473	0.00055	T	.	.	.	0.033	0.08068	.	.	0.366092821824	0.36220	0.3893332817011348	0.38848	0.139746512027	0.15750	0.298681229353	0.10204	T	0.010347	0.16227	T	-0.41251	0.01913	T	-0.357357	0.38358	T	0.00171214513294426	0.00017	T	0.842416	0.51891	T	.	.	.	.	.	.	.	.	-4.492	0.30784	T	.	.	0.061	0.01143	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	1.025952	0.14055	10.63	0.74773530716296321	0.10821	0.50708	0.28725	D	AEFDGBHCI	0.156510	0.28188	N	-0.715540201429122	0.15585	0.7867031	-0.601513759295084	0.19453	1.043817	0.999999734906887	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.95	1.56	0.22423	0.441000	0.21325	1.420000	0.26356	0.676000	0.76740	0.773000	0.29391	0.931000	0.28545	0.995000	0.73285	0.0:0.3053:0.1732:0.5215	7.512	0.26746	314	0.87270	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009063	0.000000	0.008152	0.011696	0.000000	0.000000	0.012195	0.015152	0.07143	850.44	72	chr6	56640283	.	G	C	850.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.548;DP=256;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.81;ReadPosRankSum=-0.665;SOR=0.602	GT:AD:DP:GQ:PL	0/1:37,35:72:99:861,0,952	6	0	1	0
chr6	73730429	73730429	G	A	exonic	CD109	.	nonsynonymous SNV	CD109:NM_001159587:exon4:c.G362A:p.R121H,CD109:NM_133493:exon4:c.G362A:p.R121H	.	418	1085	19	0	0	19	0.00867976	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00407403340912	.	0.000199681	0.0003	0	0.0002	0	0	0.0002	0	0.0014	0.0002781	43	154602	rs111900767	0.0002	0.0002	0.0002	0.0003	0.0023	0.0002	0.0002	0.0015	0.0015	8.966e-05	8.944e-05	0	0	3.744e-05	0.0023	0.0001	0.0003	0.0018	0.0002	0.0002	0.0001	0.0002	0.0021	0.0001	9.237e-05	0.0011	0.0009	4.815e-05	0	0.0001	0	0	0	0	0.0001	0	0.0021	0.151	0.24857	T	0.098	0.39040	T	0.004	0.12183	B	0.009	0.14300	B	0.960159	0.07712	N	1.017200	1	0.08975	N	2.19	0.61577	M	1.86	0.24285	T	-0.61	0.18042	N	0.329	0.38950	-0.9527	0.40503	T	0.010	0.03582	T	10	0.014167875	0.00298	T	0.004074	0.09712	T	0.015	0.02232	.	.	0.165133752707	0.16062	0.2246981547612539	0.22384	0.0355492049732	0.03753	0.291018903255	0.09071	T	0.012462	0.10952	T	-0.587824	0.00173	T	-0.652523	0.08778	T	0.0279248407251503	0.01677	T	0.737326	0.35372	T	0.019185638	0.00445	0.024031734	0.00418	0.019185638	0.00445	0.024031734	0.00418	-4.718	0.33622	T	.	.	0.069	0.06250	B	.;.	.;.	1.434112	0.18528	13.78	0.97070937584941419	0.32239	0.03360	0.08452	N	AEFBI	0.089823	0.18205	N	-1.2080209151828	0.04881	0.221288	-1.23191064721539	0.05405	0.2574195	0.806036546163615	0.24271	0.706548	0.73137	0	0.588066	0.40923	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.28	-2.17	0.06663	-0.003000	0.12836	-0.574000	0.08411	-0.135000	0.12811	0.003000	0.16062	0.000000	0.08366	0.453000	0.27962	0.2431:0.3321:0.1914:0.2334	0.775	0.00965	886	0.28090	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.011364	0.07143	854.44	107	chr6	73730429	.	G	A	854.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.03;DP=302;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.99;ReadPosRankSum=3.51;SOR=0.762	GT:AD:DP:GQ:PL	0/1:67,40:107:99:865,0,1468	6	0	1	0
chr6	73765952	73765952	G	A	exonic	CD109	.	nonsynonymous SNV	CD109:NM_001159588:exon10:c.G899A:p.G300D,CD109:NM_001159587:exon11:c.G1130A:p.G377D,CD109:NM_133493:exon11:c.G1130A:p.G377D	.	426	1064	30	2	0	34	0.0157262	.	.	.	1936492	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.076	.	0.0055	0.00559105	0.0090	0.0012	0.0049	0	0.0212	0.0093	0.0078	0.0152	0.0084604	1308	154602	rs7741152	0.0077	0.0077	0.0075	0.0080	0.0165	0.0076	0.0076	0.0138	0.0128	0.0011	0.0059	0.0032	2.52e-05	0.0196	0.0165	0.0073	0.0080	0.0130	0.0069	0.0069	0.0063	0.0074	0.0131	0.0065	0.0064	0.0105	0.0096	0.0014	0	0.0103	0.0026	0	0.0169	0.0136	0.0083	0.0066	0.0131	0.251	0.37118	T	0.14	0.34837	T	0.99	0.63424	D	0.687	0.53665	P	0.225121	0.16047	N	0.646799	0.803527	0.29086	N	1.945	0.52268	M	1.85	0.28189	T	-3.61	0.69477	D	0.329	0.38027	-1.1034	0.03704	T	0.037	0.15770	T	10	0.003906667	0.00074	T	.	.	.	0.076	0.22200	.	.	0.494165489436	0.49052	0.45858311809435987	0.45776	0.0426313712504	0.04596	0.380707502365	0.22357	T	0.077416	0.35650	T	-0.4463	0.01187	T	-0.401532	0.33206	T	0.0257510232446633	0.01373	T	0.854015	0.55085	D	0.09098712	0.21306	0.13227315	0.31745	0.09098712	0.21306	0.13227315	0.31745	-5.307	0.40012	T	.	.	0.147	0.34602	B	.;.;.	.;.;.	2.610992	0.33913	19.48	0.94816582121608906	0.25582	0.62529	0.31809	D	AEFGBI	0.068000	0.13394	N	-0.171357638359433	0.34331	1.958243	-0.128088779677515	0.34262	1.968913	0.0351198615705181	0.14186	0.706548	0.73137	0	0.588015	0.36545	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	4.69	2.88	0.32617	1.785000	0.38315	5.533000	0.48851	0.676000	0.76740	0.983000	0.35670	1.000000	0.68203	0.763000	0.36255	0.2571:0.0:0.7429:0.0	7.785	0.28251	865	0.32612	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.014099	0.005051	0.013587	0.014620	0.000000	0.025862	0.015244	0.015152	0.07143	352.83	18	chr6	73765952	.	G	A	352.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.861;DP=136;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=19.6;ReadPosRankSum=0.725;SOR=1.329	GT:AD:DP:GQ:PL	0/1:7,11:18:99:363,0,203	6	0	1	0
chr6	78963156	78963156	T	C	exonic	PHIP	.	nonsynonymous SNV	PHIP:NM_017934:exon30:c.A3476G:p.N1159S	.	0	1519	3	0	0	3	0.000986518	.	.	.	2134162	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.061	0.00387990230978	.	.	8.237e-06	0	0	0	0	0	0	6.058e-05	1.29e-05	2	154602	rs765151226	3.907e-05	3.899e-05	3.956e-05	3.858e-05	0.0003	3.053e-05	2.788e-05	6.099e-05	3.287e-05	0	2.261e-05	0	0	0	0.0003	3.782e-05	6.638e-05	9.323e-05	1.971e-05	1.97e-05	1.285e-05	2.691e-05	4.411e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.411e-05	0	0	0.596	0.05703	T	0.304	0.20100	T	0.001	0.07471	B	0.001	0.04355	B	0.001921	0.37691	N	0.233361	1	0.08975	N	-0.345	0.03330	N	2.26	0.17596	T	-1.31	0.32791	N	0.076	0.05037	-0.9055	0.47389	T	0.005	0.01833	T	9	0.07202217	0.10694	T	0.00388	0.09117	T	0.061	0.17616	0.376	0.38994	0.128874641272	0.12493	0.38242153064882806	0.38157	0.526218639335	0.50253	0.37677487731	0.21798	T	0.066561	0.32978	T	-0.53336	0.00367	T	-0.821764	0.01417	T	0.0133153307147729	0.00239	T	0.661834	0.27067	T	0.022197714	0.00866	0.036935605	0.03242	0.022197714	0.00866	0.036935605	0.03241	-5.297	0.39913	T	.	.	0.065	0.01810	B	.	.	1.643094	0.20970	14.99	0.89041415366936061	0.18462	0.49519	0.28452	N	AEFGBI	0.069191	0.13683	N	-0.719605935420066	0.15472	0.7799716	-0.502956325426657	0.22073	1.197094	0.0101043444312249	0.11967	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.89	1.94	0.25058	0.579000	0.23490	1.451000	0.26606	-0.120000	0.14102	0.997000	0.40164	1.000000	0.68203	0.998000	0.85391	0.0:0.3662:0.0:0.6338	8.797	0.34047	905	0.23532	Bromodomain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	829.44	92	chr6	78963156	.	T	C	829.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.21;DP=269;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.02;ReadPosRankSum=-1.284;SOR=0.627	GT:AD:DP:GQ:PL	0/1:56,36:92:99:840,0,1348	6	0	1	0
chr6	80007990	80007990	G	C	exonic	TTK	.	nonsynonymous SNV	TTK:NM_001166691:exon3:c.G321C:p.E107D,TTK:NM_003318:exon3:c.G321C:p.E107D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.607	0.126467273608	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	8.893e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.035	0.92824	D	0.999	0.77913	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	0.938546	0.37229	D	2.62	0.76659	M	-2.54	0.89496	D	-1.53	0.56787	N	0.406	0.46649	0.480	0.90261	D	0.698	0.89595	D	10	0.39968592	0.55478	T	0.126467	0.80813	D	0.607	0.84559	0.377	0.39156	0.756102065754	0.75388	0.29326060996924297	0.29239	0.586303879314	0.54233	0.593461692333	0.51983	T	0.093775	0.51827	T	0.153432	0.69590	D	-0.0173821	0.69202	D	0.93341064453125	0.60015	D	0.887811	0.64303	D	0.7694828	0.82017	0.34171048	0.59907	0.7694828	0.82018	0.34171048	0.59906	-9.025	0.67858	D	.	.	0.446	0.62023	A	.;.;.;.;.;.	.;.;.;.;.;.	4.273798	0.65043	24.8	0.99838627551170323	0.91972	0.91788	0.54264	D	AEFBI	0.340775	0.43748	N	0.324956302953043	0.57431	3.910505	0.282171109977361	0.54497	3.614648	0.999919670358034	0.45857	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	5.66	2.91	0.32903	2.081000	0.41220	5.042000	0.46920	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.2117:0.0:0.7883:0.0	11.092	0.47344	827	0.39843	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	2039.36	33	chr6	80007990	.	G	C	2039.36	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-1.147;DP=196;ExcessHet=3.1439;FS=227.851;MLEAC=2;MLEAF=0.2;MQ=60;MQRankSum=0;QD=13.24;ReadPosRankSum=1.29;SOR=8.468	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:18,15:33:99:0|1:80007990_G_C:344,0,643:80007990	3	0	2	2
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|1:18,15:33:99:0|1:80007990_G_C:344,0,643:80007990	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|1:18,15:33:99:0|1:80007990_G_C:344,0,643:80007990	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|1:17,15:32:99:0|1:80007990_G_C:346,0,636:80007990	2	0	3	2
chr6	108663854	108663854	G	A	exonic	FOXO3	.	nonsynonymous SNV	FOXO3:NM_001455:exon2:c.G1021A:p.A341T,FOXO3:NM_201559:exon3:c.G1021A:p.A341T	.	426	1053	43	0	0	43	0.0200093	.	.	.	710103	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.131	.	0.0032	0.00259585	0.0049	0.0012	0.0098	0	0.0003	0.0055	0.0132	0.0054	0.0043855	678	154602	rs145259784	0.0033	0.0033	0.0031	0.0035	0.0293	0.0032	0.0032	0.0257	0.0243	0.0012	0.0066	0.0474	0	0.0004	0.0293	0.0019	0.0070	0.0056	0.0038	0.0038	0.0036	0.0040	0.0086	0.0035	0.0034	0.0074	0.0070	0.0010	0	0.0086	0.0475	0.0002	9.413e-05	0.0272	0.0026	0.0137	0.0044	0.038	0.42783	D	0.293	0.20811	T	0.204	0.29802	B	0.055	0.25995	B	0.004197	0.34013	N	0.343008	1	0.08975	N	0.99	0.25021	L	-2.64	0.90147	D	-0.48	0.15379	N	0.36	0.40665	-0.6141	0.64234	T	0.381	0.73744	T	10	0.007044345	0.00160	T	.	.	.	0.131	0.35738	.	.	0.855702866044	0.85431	0.2028257584335261	0.20199	.	.	0.449852347374	0.31923	T	0.418943	0.77113	T	-0.347946	0.04857	T	-0.268572	0.47965	T	0.00784643585367514	0.00092	T	0.810019	0.46084	T	0.02431428	0.01252	0.060943298	0.11689	0.02431428	0.01251	0.060943298	0.11688	-4.51	0.31019	T	.	.	0.075	0.05404	B	.;.;.	.;.;.	2.216561	0.28284	17.75	0.97082658405871858	0.32289	0.55788	0.29952	D	AEFDGBI	0.134308	0.25428	N	-0.470631801392504	0.23047	1.234884	-0.424609406794093	0.24278	1.328551	0.984320181979407	0.30699	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.71	3.8	0.42887	2.120000	0.41591	4.937000	0.46179	0.676000	0.76740	0.765000	0.29300	1.000000	0.68203	0.027000	0.12703	0.0:0.1233:0.6517:0.225	11.799	0.51388	618	0.66225	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.030242	0.040404	0.039402	0.026316	0.000000	0.025862	0.027607	0.018939	0.1429	2808.24	108	chr6	108663854	.	G	A	2808.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-1.384;DP=391;ExcessHet=0.3476;FS=1.009;MLEAC=2;MLEAF=0.143;MQ=57.9;MQRankSum=0.187;QD=12.16;ReadPosRankSum=-0.005;SOR=0.684	GT:AD:DP:GQ:PL	0/1:64,44:108:99:1095,0,1746	5	0	2	0
chr6	152331115	152331115	C	G	exonic	SYNE1	.	nonsynonymous SNV	SYNE1:NM_033071:exon77:c.G13357C:p.V4453L,SYNE1:NM_182961:exon78:c.G13570C:p.V4524L	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.00754825800838	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.034	0.53072	D	0.003	0.11197	B	0.004	0.10090	B	0.325020	0.14208	N	0.660669	1	0.81001	D	0.69	0.16971	N	1.38	0.34050	T	-0.86	0.23372	N	0.117	0.11340	-0.9824	0.34445	T	0.014	0.05513	T	10	0.042183667	0.02943	T	0.007548	0.20033	T	0.031	0.07369	0.323	0.30387	0.170165803431	0.16609	0.20548542717459714	0.20465	0.130822632684	0.14758	0.293257117271	0.09399	T	0.127862	0.45515	T	-0.311759	0.07593	T	-0.685596	0.06647	T	0.025374189688588	0.01322	T	0.79652	0.44001	T	0.047435828	0.08107	0.051205635	0.08193	0.047435828	0.08107	0.051205635	0.08192	-0.288	0.00468	T	.	.	0.131	0.28145	B	.;.	.;.	0.577523	0.09458	6.239	0.69415960505877994	0.08965	0.95287	0.64137	D	AEFDBI	0.517551	0.54362	D	-0.98190325063367	0.08989	0.4236828	-0.848130851139563	0.13332	0.6910612	0.0729640935166664	0.15619	0.554377	0.28877	0	0.573888	0.26702	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	6.03	0.886	0.18329	1.409000	0.34288	-0.077000	0.12225	-0.313000	0.06017	1.000000	0.71638	0.000000	0.08366	0.599000	0.31363	0.0:0.5304:0.1169:0.3527	6.318	0.20409	847	0.35998	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	45.25	107	chr6	152331115	.	C	G	45.25	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-4.043;DP=702;ExcessHet=0.4139;FS=242.021;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.28;ReadPosRankSum=1.07;SOR=10.035	GT:AD:DP:GQ:PL	0/1:74,26:107:31:31,0,1417	4	0	2	1
chr6	156778848	156778850	GGC	-	exonic	ARID1B	.	nonframeshift deletion	ARID1B:NM_001374820:exon1:c.1168_1170del:p.G402del,ARID1B:NM_001374828:exon1:c.1168_1170del:p.G402del,ARID1B:NM_017519:exon1:c.1168_1170del:p.G402del,ARID1B:NM_001371656:exon2:c.1168_1170del:p.G402del	Coffin-Siris syndrome 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	579302	not_provided|ARID1B-related_disorder|Inborn_genetic_diseases	MedGen:C3661900|.|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0647	.	0.0053	0.0094	0	0.0074	.	0.0050	0	0.0054	0.0005886	91	154602	rs752981400	0.0011	0.0062	0.0010	0.0011	0.0042	0.0010	0.0010	0.0035	0.0033	0.0010	0.0042	0.0019	0.0005	0.0015	0.0022	0.0008	0.0014	0.0039	0.0004	0.0005	0.0004	0.0004	0.0013	0.0003	0.0003	0.0008	0.0007	0.0004	0	0.0013	0	0	0	0	0.0004	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	109.59	20	chr6	156778847	.	GGGC	G	109.59	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.228;DP=212;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.48;ReadPosRankSum=-0.142;SOR=0.495	GT:AD:DP:GQ:PL	0/1:16,4:20:99:120,0,660	6	0	1	0
chr6	165395227	165395227	G	C	exonic	PDE10A	.	nonsynonymous SNV	PDE10A:NM_001130690:exon15:c.C1459G:p.P487A,PDE10A:NM_001385079:exon15:c.C2257G:p.P753A,PDE10A:NM_006661:exon16:c.C1429G:p.P477A	Dyskinesia, limb and orofacial, infantile-onset, Autosomal recessive;Striatal degeneration, autosomal dominant, Autosomal dominant	427	1092	3	0	0	3	0.00137174	.	.	.	413738	not_provided|PDE10A-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.514	0.0303236808807	0.0055	0.00239617	0.0045	0.0020	0.0012	0	0.0035	0.0072	0.0011	0.0005	0.0048253	746	154602	rs61733392	0.0069	0.0070	0.0072	0.0067	0.0084	0.0068	0.0068	0.0083	0.0082	0.0010	0.0017	0.0070	0	0.0032	0.0014	0.0084	0.0052	0.0004	0.0047	0.0047	0.0051	0.0042	0.0079	0.0044	0.0043	0.0073	0.0071	0.0017	0.0033	0.0025	0.0058	0	0.0025	0	0.0079	0.0061	0.0010	.	.	.	.	.	.	0.108	0.26116	B	0.024	0.20255	B	0.000002	0.62929	D	0.103311	1	0.81001	D	2.25	0.63811	M	.	.	.	.	.	.	.	.	-0.5835	0.65478	T	0.327	0.69547	T	10	0.0108220875	0.00239	T	0.030324	0.52661	D	0.514	0.79217	.	.	0.596215507535	0.59301	0.9564011803098554	0.95625	1.68445801464	0.90041	0.610611796379	0.54402	T	0.02402	0.54383	T	-0.124018	0.32469	T	0.0537859	0.73833	D	0.0421576177729157	0.04083	T	0.966803	0.87909	D	0.32890666	0.55382	0.17875467	0.40566	0.36651084	0.58326	0.20650785	0.44867	-7.634	0.58952	D	.	.	0.383	0.60894	A	.;.;.;.;.;.	.;.;.;.;.;.	4.314174	0.65970	24.9	0.9649163388610511	0.30009	0.99424	0.95853	D	AEFI	0.914466	0.87786	D	0.306150848548784	0.56464	3.811105	0.445242379398757	0.64412	4.695797	0.9999999978744	0.74766	0.638212	0.43195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.668105	0.65232	0	.	.	5.57	5.57	0.84021	9.638000	0.97833	11.697000	0.94442	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.563	0.95373	993	0.01300	.;.;.;.;.;3'5'-cyclic nucleotide phosphodiesterase, catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.07143	483.83	50	chr6	165395227	.	G	C	483.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.26;DP=223;ExcessHet=0;FS=1.064;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.68;ReadPosRankSum=-0.528;SOR=0.874	GT:AD:DP:GQ:PL	0/1:28,22:50:99:494,0,681	6	0	1	0
chr7	1236430	1236430	-	CGC	exonic	UNCX	.	nonframeshift insertion	UNCX:NM_001080461:exon3:c.1049_1050insCGC:p.A357_G358insA	.	358	1161	2	0	1	3	0.000860585	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1316820361	0.0001	0.0001	0.0001	9.886e-05	0.0003	0.0001	9.703e-05	0.0002	0.0001	0.0003	0	5.422e-05	4.238e-05	0	0.0003	0.0001	0.0001	0	0.0001	0.0001	0.0001	0.0002	0.0004	9.702e-05	8.088e-05	0.0002	0.0002	0.0004	0	0	0	0	0	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	711.59	44	chr7	1236430	.	A	ACGC	711.59	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.119;DP=232;ExcessHet=0;FS=2.652;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.17;ReadPosRankSum=0.865;SOR=0.52	GT:AD:DP:GQ:PL	0/1:25,19:44:99:722,0,971	6	0	1	0
chr7	1440649	1440649	C	T	exonic	MICALL2	.	nonsynonymous SNV	MICALL2:NM_182924:exon8:c.G1747A:p.G583R	.	416	992	110	4	0	118	0.056137	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	.	0.0058	0.00958466	0.0111	0.0014	0.0042	0.0002	0.0012	0.0092	0.0235	0.0387	0.0103815	1605	154602	rs118132501	0.0097	0.0097	0.0085	0.0108	0.0387	0.0095	0.0095	0.0376	0.0372	0.0019	0.0045	0.0214	5.038e-05	0.0018	0.0317	0.0081	0.0106	0.0387	0.0069	0.0070	0.0062	0.0077	0.0391	0.0066	0.0065	0.0345	0.0327	0.0011	0.0647	0.0083	0.0231	0	0.0016	0.0034	0.0077	0.0085	0.0391	0.01	0.56456	D	0.289	0.21078	T	0.998	0.73220	D	0.629	0.51727	P	0.785298	0.09439	N	0.854456	1	0.08975	N	0.55	0.14455	N	-0.5	0.70480	T	-2.9	0.60827	D	0.274	0.31027	-0.8680	0.50679	T	0.228	0.59372	T	10	0.003394574	0.00059	T	.	.	.	0.085	0.24743	0.254	0.19378	.	.	0.17260096805414704	0.17180	0.0127105137452	0.01221	0.354136884212	0.18529	T	0.005327	0.04780	T	-0.389267	0.02720	T	-0.304068	0.44293	T	0.0421110538412396	0.04076	T	0.717028	0.32946	T	0.07449362	0.16722	0.08943037	0.20911	0.07449362	0.16722	0.08943037	0.20911	-4.714	0.33573	T	.	.	0.185	0.40048	B	.	.	1.897278	0.24095	16.27	0.71380055128778219	0.09609	0.04398	0.09982	N	AEFGBI	0.094525	0.19111	N	-0.45859534911735	0.23449	1.259348	-0.634506495118654	0.18609	0.9948502	0.314020614395515	0.19317	0.706548	0.73137	0	0.588066	0.40923	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.08	2.22	0.27116	0.800000	0.26703	1.295000	0.25437	0.597000	0.34315	0.000000	0.06391	0.007000	0.19602	0.040000	0.14268	0.0:0.6189:0.1779:0.2032	4.792	0.12621	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.031219	0.000000	0.013587	0.049708	0.050000	0.025862	0.051829	0.045455	0.1429	1138.02	36	chr7	1440649	.	C	T	1138.02	.	AC=2;AF=0.143;AN=14;DP=206;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=31.61;SOR=1.061	GT:AD:DP:GQ:PL	1/1:0,36:36:99:1158,108,0	6	1	0	0
chr7	1444713	1444713	G	A	exonic	MICALL2	.	nonsynonymous SNV	MICALL2:NM_182924:exon6:c.C1357T:p.R453W	.	424	1096	2	0	0	2	0.000911577	.	.	.	2368348	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.071	0.0914009243479	.	.	6.239e-05	0	0	0.0005	0	3.249e-05	0	6.182e-05	4.53e-05	7	154602	rs756546164	3.63e-05	3.694e-05	3.816e-05	3.442e-05	0.0005	2.832e-05	2.568e-05	0.0003	0.0003	8.962e-05	2.237e-05	0	0.0005	0	0	2.069e-05	4.971e-05	4.638e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.45039	D	0.027	0.55341	D	0.079	0.24468	B	0.007	0.12992	B	0.028704	0.01690	N	3.664910	1	0.08975	N	0.55	0.14455	N	-0.47	0.70133	T	-1.88	0.43906	N	0.246	0.27792	-0.9046	0.47493	T	0.211	0.57134	T	10	0.053836346	0.05637	T	0.091401	0.75699	D	0.071	0.20720	.	.	0.550801545593	0.54736	0.3504401484264128	0.34958	0.0441765444341	0.04759	0.555522322655	0.46636	T	0.006587	0.06018	T	-0.303745	0.08310	T	-0.373761	0.36451	T	0.0837040897329393	0.10454	T	0.674133	0.28269	T	0.07777373	0.17673	0.049870357	0.07710	0.07777373	0.17672	0.049870357	0.07710	-7.907	0.60435	D	.	.	0.172	0.37709	B	.	.	2.532005	0.32736	19.13	0.9978303542692506	0.86955	0.05613	0.11520	N	AEFDGBI	0.168570	0.29533	N	-0.988793742274242	0.08843	0.4161824	-0.992660940178295	0.09948	0.4980649	0.573419258816321	0.21511	0.695654	0.57023	0	0.588066	0.40923	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	4.45	2.56	0.29842	3.131000	0.50210	2.797000	0.34830	-0.155000	0.11859	0.170000	0.23934	0.163000	0.23278	0.001000	0.02609	0.1039:0.1813:0.7147:0.0	6.684	0.22323	937	0.14592	.	.	.	.	.	.	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	0.000505	0.000000	0.001366	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	337.53	37	chr7	1444713	.	G	A	337.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.91;DP=210;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.12;ReadPosRankSum=0.157;SOR=0.703	GT:AD:DP:GQ:PL	0/1:23,14:37:99:348,0,501	6	0	1	0
chr7	26152944	26152944	C	T	exonic	NFE2L3	.	nonsynonymous SNV	NFE2L3:NM_004289:exon1:c.C446T:p.A149V	.	411	1104	7	0	0	7	0.00316027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	.	.	0.000998403	0.0041	0	0.0208	0	.	0.0087	0	0.0029	0.0006662	103	154602	rs200699467	0.0064	0.0059	0.0065	0.0063	0.0073	0.0063	0.0062	0.0071	0.0071	0.0012	0.0049	0.0051	0	0.0006	0.0053	0.0073	0.0054	0.0024	0.0039	0.0040	0.0044	0.0035	0.0065	0.0037	0.0036	0.0060	0.0058	0.0017	0.0077	0.0031	0.0049	0.0002	0.0002	0.0034	0.0065	0.0038	0.0014	0.051	0.39334	T	0.021	0.58089	D	0.608	0.39540	P	0.306	0.41250	B	0.561020	0.11336	N	0.794258	1	0.08975	N	2.015	0.55033	M	2.23	0.18083	T	-1.55	0.37566	N	0.064	0.03613	-1.0556	0.12882	T	0.044	0.18906	T	10	0.004148364	0.00082	T	.	.	.	0.031	0.07369	.	.	0.298403945805	0.29456	0.17218008392784495	0.17138	1.79946624974	0.91631	0.801559329033	0.82201	T	0.065212	0.32632	T	-0.563246	0.00243	T	-0.577275	0.14789	T	0.0340217854875971	0.02641	T	0.452755	0.12846	T	0.035513688	0.04193	0.05589209	0.09889	0.035513688	0.04193	0.05589209	0.09889	-4.758	0.34098	T	.	.	0.097	0.15743	B	.	.	2.655587	0.34589	19.67	0.99622406544648956	0.75533	0.39657	0.26262	N	AEFBHCI	0.052224	0.09301	N	-0.323381573486189	0.28262	1.557411	-0.370738187714241	0.25873	1.425612	0.999998999096297	0.74766	0.733237	0.96898	0	0.56911	0.20461	1	0.600757	0.32118	0	0.375	0.06713	1	.	.	4.67	2.79	0.31792	0.020000	0.13359	0.932000	0.22787	0.463000	0.21641	0.004000	0.16614	0.467000	0.25033	0.079000	0.17189	0.3824:0.6176:0.0:0.0	9.566	0.38561	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	0.006803	0.014493	0.002415	0.000000	0.000000	0.000000	0.005208	0.000000	0.07143	220.86	16	chr7	26152944	.	C	T	220.86	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.132;DP=141;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.8;ReadPosRankSum=0.816;SOR=0.534	GT:AD:DP:GQ:PL	0/1:6,10:16:99:231,0,106	6	0	1	0
chr7	27095695	27095695	C	0	exonic	HOXA1	.	.	.	Athabaskan brainstem dysgenesis syndrome;Bosley-Salih-Alorainy syndrome	13	23	341	1132	13	2618	0.982648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	19382.3	62	chr7	27095695	.	C	*	19382.3	.	AC=1;AF=0.071;AN=14;DP=694;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=29.82;SOR=1.025	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,24:62:99:1|0:27095694_GCGA_G:2586,1191,1485:27095694	6	0	1	0
chr7	30285550	30285558	GCCGCGGCG	-	exonic	ZNRF2	.	nonframeshift deletion	ZNRF2:NM_147128:exon1:c.193_201del:p.A69_A71del	.	1240	277	3	2	0	7	0.0124777	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs1417295176	0.0025	0.0015	0.0024	0.0025	0.0070	0.0024	0.0023	0.0059	0.0056	0.0058	0.0029	0	0.0024	0	0.0067	0.0023	0.0031	0.0070	0.0033	0.0033	0.0035	0.0032	0.0072	0.0031	0.0030	0.0056	0.0054	0.0063	0.0321	0.0019	0.0003	0.0021	0.0009	0.0072	0.0017	0.0020	0.0072	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	127.43	3	chr7	30285549	.	CGCCGCGGCG	C	127.43	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.967;DP=37;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.58;ReadPosRankSum=0;SOR=0.693	GT:AD:DP:GQ:PL	0/1:1,2:3:25:73,0,25	4	0	2	1
chr7	45109238	45109238	G	-	exonic	TBRG4	.	frameshift deletion	TBRG4:NM_001261834:exon2:c.33delC:p.M12Wfs*6	.	427	1085	9	1	0	11	0.00504356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0071	0.00319489	0.0080	0.0009	0.0037	0	0.0118	0.0113	0.0085	0.0042	0.0011142	29	26028	rs36007488	0.0093	0.0093	0.0094	0.0093	0.0107	0.0092	0.0091	0.0105	0.0105	0.0011	0.0039	0.0014	0	0.0122	0.0023	0.0107	0.0075	0.0037	0.0068	0.0068	0.0070	0.0067	0.0111	0.0065	0.0064	0.0105	0.0102	0.0013	0.0011	0.0054	0.0029	0	0.0107	0	0.0111	0.0076	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	249.59	19	chr7	45109237	.	TG	T	249.59	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.147;DP=179;ExcessHet=0;FS=2.199;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.14;ReadPosRankSum=-1.157;SOR=0.184	GT:AD:DP:GQ:PL	0/1:11,8:19:99:260,0,387	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	0/1:43,12:70:29:.:.:29,0,1430:.	0	0	7	0
chr7	47853147	47853147	A	G	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon31:c.T4940C:p.I1647T	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	420	1065	36	1	0	38	0.0175277	.	.	YES	700108	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.033	0.00307578698085	0.0024	0.00119808	0.0028	0.0006	0.0048	0.0001	0.0003	0.0031	0.0044	0.0038	0.0026132	404	154602	rs150396842	0.0025	0.0025	0.0025	0.0026	0.0269	0.0025	0.0024	0.0234	0.0221	0.0006	0.0032	0.0006	0	0.0002	0.0269	0.0025	0.0039	0.0039	0.0019	0.0019	0.0020	0.0017	0.0029	0.0017	0.0016	0.0026	0.0025	0.0005	0	0.0022	0.0009	0	9.413e-05	0.0374	0.0029	0.0028	0.0023	0.132	0.26519	T	0.13	0.34716	T	0.172	0.28767	B	0.025	0.20508	B	0.923955	0.07493	N	1.050930	1	0.08975	N	0.895	0.22405	L	1.9	0.23486	T	-2.15	0.48687	N	0.153	0.15749	-1.0059	0.28186	T	0.042	0.17910	T	10	0.0092950165	0.00210	T	0.003076	0.06636	T	0.033	0.08068	.	.	0.0954503805726	0.09146	0.2955123806695108	0.29464	0.12647757418	0.14255	0.317104578018	0.12981	T	0.060975	0.31530	T	-0.603463	0.00139	T	-0.637275	0.09869	T	0.00694634325530632	0.00079	T	0.363264	0.08416	T	0.08808688	0.20535	0.11958772	0.28864	0.08808688	0.20535	0.11958772	0.28863	-10.882	0.79007	D	0.19642316934644846	0.25944	0.365	0.57542	A	.	.	1.026868	0.14066	10.64	0.75558764966743985	0.11122	0.03166	0.08140	N	AEFI	0.043929	0.07004	N	-0.821283035922916	0.12767	0.6244539	-0.837001255752562	0.13600	0.7064044	0.244068471712208	0.18605	0.533608	0.22052	0	0.615948	0.52940	0	0.615948	0.41167	0	0.638833	0.57524	0	.	.	5.14	2.69	0.30923	0.979000	0.29098	1.846000	0.29223	0.756000	0.94297	0.001000	0.13787	0.001000	0.17328	0.613000	0.31716	0.8093:0.0:0.1907:0.0	6.861	0.23249	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	1	0	0	0	0	1	0	0.015136	0.010204	0.016304	0.026316	0.000000	0.000000	0.018405	0.011364	0.08333	312.27	36	chr7	47853147	.	A	G	312.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.368;DP=195;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.67;ReadPosRankSum=1.32;SOR=0.559	GT:AD:DP:GQ:PL	0/1:20,16:36:99:322,0,445	5	0	1	1
chr7	50368104	50368104	C	G	exonic	IKZF1	.	nonsynonymous SNV	IKZF1:NM_001291845:exon4:c.C259G:p.L87V	Immunodeficiency, common variable, 13, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	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	0/1:59,21:84:99:.:.:149,0,1028:.	1	0	4	2
chr7	64992528	64992528	C	G	exonic	ERV3-1	.	nonsynonymous SNV	ERV3-1:NM_001007253:exon2:c.G499C:p.D167H	.	432	1087	3	0	0	3	0.00137804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00129846394607	0.0002	.	0.0002	0	0.0009	0	0	0.0002	0.0011	0.0003	0.0001746	27	154602	rs71534295	0.0003	0.0003	0.0002	0.0003	0.0010	0.0002	0.0002	0.0004	0.0004	0	0.0004	0.0023	0	0	0.0010	0.0001	0.0002	0.0006	0.0001	0.0001	0.0001	0.0001	0.0010	9.15e-05	7.705e-05	0.0004	0.0003	0	0	0.0002	0.0029	0	0	0	4.411e-05	0	0.0010	0.054	0.38633	T	0.136	0.34009	T	0.433	0.35643	B	0.01	0.14941	B	.	.	.	.	1	0.08975	N	0	0.06538	N	2.62	0.12988	T	-0.27	0.11366	N	0.217	0.24260	-0.9876	0.33200	T	0.013	0.05321	T	8	0.017316371	0.00369	T	0.001298	0.01809	T	0.021	0.04004	.	.	0.0551355673512	0.04727	0.1699094469103624	0.16910	0.21499238779	0.24033	0.557504892349	0.46916	T	0.001239	0.00725	T	-0.506398	0.00526	T	-0.635181	0.10024	T	0.0169124046243842	0.00443	T	0.373163	0.08852	T	0.06505692	0.13865	0.14114854	0.33622	0.06505692	0.13864	0.14114854	0.33621	-4.196	0.26694	T	.	.	0.413	0.60281	A	.	.	0.994735	0.13731	10.27	0.92868615041474833	0.22413	0.01217	0.04320	N	AEFBI	0.043380	0.06850	N	-0.942598590195049	0.09859	0.4685268	-1.02560100122226	0.09224	0.4576887	0.880869361665755	0.25619	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	0.109	0.109	0.13884	0.202000	0.17094	.	.	0.212000	0.17994	0.477000	0.26777	0.704000	0.26251	0.545000	0.30055	.	.	.	716	0.55970	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001036	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	947.44	82	chr7	64992528	.	C	G	947.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.07;DP=562;ExcessHet=0;FS=0.84;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.55;ReadPosRankSum=0.86;SOR=0.733	GT:AD:DP:GQ:PL	0/1:46,36:82:99:958,0,1195	6	0	1	0
chr7	65979471	65979471	C	T	exonic	GUSB	.	nonsynonymous SNV	GUSB:NM_001293104:exon3:c.G82A:p.V28I,GUSB:NM_000181:exon4:c.G652A:p.V218I	Mucopolysaccharidosis VII, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.755	0.505346214334	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.024	0.56640	D	0.971	0.57185	D	0.906	0.64351	P	0.000001	0.62929	D	0.056754	1	0.81001	D	2.64	0.77224	M	-4.8	0.98169	D	-0.87	0.23590	N	0.76	0.75834	1.105	0.99806	D	0.963	0.98810	D	10	0.93923116	0.93250	D	0.505346	0.95217	D	0.755	0.91626	0.725	0.85937	0.902544157269	0.90157	0.7902203511487095	0.78974	0.613822498684	0.55932	0.418087184429	0.27574	T	0.587633	0.86593	D	0.261386	0.79659	D	0.137687	0.79396	D	0.892707421474455	0.54383	D	0.918208	0.70605	D	0.7105831	0.78639	0.63345534	0.78609	0.7105831	0.78641	0.63345534	0.78610	-10.811	0.78611	D	0.3691763117535301	0.46487	0.106	0.19800	B	.	.	4.302010	0.65697	24.9	0.99882794197208236	0.95892	0.95773	0.66093	D	AEFDBCI	0.947378	0.95786	D	0.716900392619733	0.80741	7.361744	0.640203165172786	0.77881	6.765916	0.999999999999997	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.27	5.27	0.73797	7.688000	0.83438	7.525000	0.59824	0.562000	0.28470	1.000000	0.71638	1.000000	0.68203	0.182000	0.21359	0.0:1.0:0.0:0.0	17.961	0.89006	487	0.76954	Glycosyl hydrolases family 2, sugar 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	790.53	52	chr7	65979471	.	C	T	790.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.68;DP=229;ExcessHet=0;FS=1.076;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.2;ReadPosRankSum=1.69;SOR=0.883	GT:AD:DP:GQ:PL	0/1:22,30:52:99:801,0,477	6	0	1	0
chr7	75058742	75058742	G	A	exonic	RCC1L	.	nonsynonymous SNV	RCC1L:NM_001281441:exon7:c.C815T:p.S272L,RCC1L:NM_001363447:exon7:c.C416T:p.S139L,RCC1L:NM_030798:exon7:c.C815T:p.S272L,RCC1L:NM_148842:exon7:c.C815T:p.S272L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.00449328993548	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1336706871	8.21e-06	8.209e-06	8.169e-06	8.252e-06	8.963e-05	4.38e-06	3.46e-06	2.375e-05	1.258e-05	8.963e-05	2.236e-05	0	0	0	0	6.296e-06	1.656e-05	0	2.629e-05	2.627e-05	3.854e-05	1.345e-05	4.825e-05	8.14e-06	5.14e-06	8e-06	2.99e-06	4.825e-05	0	0	0	0	0	0	2.94e-05	0	0	.	.	.	0.403	0.19539	T	.	.	.	.	.	.	0.007943	0.01187	N	2.657570	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.127	0.12484	-0.8025	0.54997	T	0.249	0.61901	T	10	0.048581243	0.04327	T	0.004493	0.11031	T	.	.	0.43	0.47843	0.0986583533028	0.09354	0.22710027761579216	0.22625	.	.	0.338433593512	0.16203	T	.	.	.	-0.246591	0.14520	T	-0.591988	0.13495	T	0.106341518461704	0.13041	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.02118	B	.;.;.	.;.;.	-0.643521	0.01456	0.089	0.66896654958178192	0.08193	0.01676	0.05356	N	AEFI	0.115773	0.22749	N	-1.53500525050426	0.01624	0.07100439	-1.60877482615573	0.01603	0.07270407	0.00167518515274658	0.08770	0.706298	0.61202	0	0.659464	0.62310	0	0.659464	0.59346	0	0.613276	0.41899	0	.	.	4.14	-6.75	0.01575	-0.685000	0.05269	-3.898000	0.02465	-0.734000	0.03706	0.000000	0.06391	0.000000	0.08366	0.044000	0.14658	0.6902:0.0:0.1936:0.1161	8.752	0.33783	940	0.13648	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	621.49	54	chr7	75058742	.	G	A	621.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.51;DP=230;ExcessHet=0;FS=3.9;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.51;ReadPosRankSum=-0.392;SOR=1.329	GT:AD:DP:GQ:PL	0/1:30,24:54:99:632,0,663	6	0	1	0
chr7	75422100	75422100	C	T	exonic	POM121C	.	nonsynonymous SNV	POM121C:NM_001099415:exon13:c.G2152A:p.A718T	.	.	.	.	.	.	.	.	.	.	.	2379713	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.023	0.0105048680564	0.0002	.	5.094e-05	0.0005	0	0	0	0	0	0.0001	4.53e-05	7	154602	rs369177631	2.411e-05	3.352e-05	2.189e-05	2.636e-05	0.0008	1.751e-05	1.549e-05	0.0003	0.0002	0.0004	0.0001	3.877e-05	0	0	0.0008	5.428e-06	5.014e-05	1.166e-05	9.198e-05	9.193e-05	0.0001	5.38e-05	0.0003	5.527e-05	4.364e-05	0.0001	0.0001	0.0003	0	6.542e-05	0	0	0	0	2.941e-05	0	0	.	.	.	0.372	0.16376	T	0.179	0.28995	B	0.024	0.20255	B	0.336064	0.14037	N	0.581381	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.069	0.04188	-0.9507	0.40851	T	0.015	0.06090	T	10	0.02793479	0.00931	T	0.010505	0.27109	T	.	.	.	.	0.0297737177859	0.01360	0.04262165462669714	0.04207	.	.	0.467867285013	0.34387	T	9.35E-4	0.00486	T	-0.305098	0.08187	T	-0.676028	0.07228	T	0.0123046226799488	0.00199	T	0.623338	0.24021	T	0.015357343	0.00135	0.060860854	0.11661	0.015357343	0.00135	0.060860854	0.11660	-4.446	0.30176	T	.	.	0.065	0.01834	B	.;.	.;.	-0.707168	0.01304	0.070	0.7275348431114973	0.10083	0.00130	0.00805	N	AEFBI	0.023318	0.01283	N	-1.55285467023272	0.01518	0.06628711	-1.62536255563305	0.01508	0.06828881	6.91607370028338E-5	0.04366	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	2.99	-3.97	0.03821	-0.203000	0.09440	-1.253000	0.05900	-1.209000	0.01353	0.058000	0.21700	0.000000	0.08366	0.004000	0.06068	0.0:0.2224:0.0:0.7776	9.046	0.35507	929	0.16858	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002096	0.005376	0.000000	0.003378	0.000000	0.000000	0.003185	0.007752	0.08333	316.27	35	chr7	75422100	.	C	T	316.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.98;DP=253;ExcessHet=0;FS=1.391;MLEAC=1;MLEAF=0.083;MQ=53.92;MQRankSum=-0.083;QD=9.04;ReadPosRankSum=-0.975;SOR=0.446	GT:AD:DP:GQ:PL	0/1:22,13:35:99:326,0,519	5	0	1	1
chr7	92040807	92040807	G	A	exonic	AKAP9	.	nonsynonymous SNV	AKAP9:NM_005751:exon18:c.G4826A:p.R1609K,AKAP9:NM_147185:exon18:c.G4826A:p.R1609K	.	2	1517	3	0	0	3	0.000987817	.	.	.	655810	not_specified|Long_QT_syndrome|Cardiovascular_phenotype|not_provided	MedGen:CN169374|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976|MedGen:CN230736|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.037	0.0105003809502	.	0.000599042	0.0004	0	0.0025	0	0.0002	0.0003	0.0033	0	0.0003946	61	154602	rs148146011	0.0003	0.0003	0.0003	0.0003	0.0033	0.0002	0.0002	0.0022	0.0018	2.987e-05	0.0020	0.0007	0	3.744e-05	0.0033	0.0002	0.0007	0.0001	0.0003	0.0003	0.0003	0.0003	0.0012	0.0002	0.0002	0.0008	0.0007	9.633e-05	0	0.0012	0.0012	0	0	0	0.0002	0.0005	0.0004	0.186	0.21467	T	0.686	0.07518	T	.	.	.	.	.	.	0.000524	0.43581	D	0.000000	0.954299	0.26374	N	.	.	.	4.05	0.03092	T	-0.35	0.12847	N	0.113	0.26957	-1.0222	0.22998	T	0.013	0.05033	T	10	0.011005938	0.00242	T	0.011	0.27109	T	0.037	0.09474	.	.	0.385084120042	0.38121	0.21059081786531725	0.20975	0.199357701048	0.22332	0.707103550434	0.68173	T	0.257823	0.64280	T	-0.560859	0.00251	T	-0.584888	0.14111	T	0.0222847738322418	0.00941	T	0.806219	0.45479	T	0.09535455	0.22439	0.11842089	0.28586	0.09535455	0.22438	0.11842089	0.28585	-5.876	0.45230	T	.	.	0.243	0.49711	B	.;.;.;.	.;.;.;.	3.796036	0.54670	23.5	0.91839952688437132	0.21152	0.85325	0.44447	D	AEFBI	0.210202	0.33612	N	0.0236045481696767	0.42930	2.596034	0.133577509776135	0.46276	2.876341	0.996458878739137	0.34757	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.37	4.48	0.53973	2.851000	0.48001	9.656000	0.81182	0.613000	0.49114	1.000000	0.71638	1.000000	0.68203	0.904000	0.43992	0.1443:0.0:0.8557:0.0	10.84	0.45913	231	0.90996	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006042	0.015152	0.004076	0.017544	0.000000	0.000000	0.000000	0.000000	0.07143	1616.63	82	chr7	92040807	.	G	A	1616.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.178;DP=302;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=19.72;ReadPosRankSum=-2.362;SOR=0.78	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:40,42:82:99:0|1:92040806_A_C:1627,0,1522:92040806	6	0	1	0
chr7	95311568	95311568	A	C	exonic	PON1	.	nonsynonymous SNV	PON1:NM_000446:exon5:c.T380G:p.M127R	.	0	1494	27	1	0	29	0.0096122	.	.	.	2825879	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.296	0.00942209962552	0.0010	0.00259585	0.0019	0.0002	0.0010	0	0.0003	0.0020	0.0022	0.0050	0.0019017	294	154602	rs144390653	0.0018	0.0018	0.0016	0.0020	0.0097	0.0017	0.0017	0.0077	0.0069	0.0005	0.0014	0.0103	0	0.0004	0.0097	0.0015	0.0025	0.0050	0.0017	0.0017	0.0018	0.0015	0.0035	0.0015	0.0014	0.0022	0.0018	0.0001	0	0.0026	0.0127	0	0.0003	0.0068	0.0020	0.0019	0.0035	0.001	0.78490	D	0.001	0.83351	D	0.005	0.12996	B	0.017	0.18140	B	0.000258	0.46924	D	0.186666	0.543587	0.32074	D	0.345	0.11182	N	1.08	0.39401	T	-2.8	0.59226	D	0.492	0.52563	-0.9763	0.35838	T	0.049	0.21065	T	10	0.01312533	0.00279	T	0.009422	0.24693	T	0.296	0.61616	.	.	0.483082108137	0.47938	0.9294117154541827	0.92919	0.237092020328	0.26249	0.308206707239	0.11637	T	0.222563	0.58644	T	-0.369924	0.03598	T	-0.303468	0.44357	T	0.126494515272133	0.15054	T	0.649435	0.26018	T	0.87436265	0.89209	0.82239217	0.89692	0.87436265	0.89211	0.82239217	0.89693	-4.952	0.36314	T	.	.	0.148	0.32804	B	.	.	2.705477	0.35350	19.87	0.9531854933755467	0.26661	0.99234	0.93208	D	AEFI	0.962327	0.98388	D	-0.222739094303376	0.32202	1.81356	-0.0786288753333333	0.36274	2.109002	0.999999694749795	0.74766	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.88	4.88	0.63131	8.273000	0.89816	11.210000	0.89365	0.756000	0.94297	0.997000	0.40164	0.999000	0.35428	0.051000	0.15275	1.0:0.0:0.0:0.0	14.958	0.70781	840	0.37365	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006042	0.005051	0.004076	0.014620	0.000000	0.000000	0.006098	0.003788	0.07143	430.49	40	chr7	95311568	.	A	C	430.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.12;DP=213;ExcessHet=0;FS=5.71;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.76;ReadPosRankSum=1.23;SOR=1.863	GT:AD:DP:GQ:PL	0/1:25,15:40:99:441,0,697	6	0	1	0
chr7	95592889	95592889	T	C	exonic	PDK4	.	nonsynonymous SNV	PDK4:NM_002612:exon4:c.A400G:p.M134V	.	437	1034	49	2	0	53	0.0249882	.	.	.	722756	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.249	.	0.0033	0.00858626	0.0067	0.0013	0.0035	0.0001	0.0003	0.0069	0.0089	0.0174	0.0065394	1011	154602	rs144262262	0.0051	0.0051	0.0046	0.0056	0.0397	0.0050	0.0050	0.0355	0.0339	0.0015	0.0047	0.0445	0	0.0004	0.0397	0.0035	0.0081	0.0158	0.0049	0.0049	0.0048	0.0050	0.0161	0.0046	0.0045	0.0133	0.0122	0.0008	0.0077	0.0088	0.0450	0.0002	0.0008	0.0308	0.0044	0.0099	0.0161	0.076	0.34269	T	0.135	0.34124	T	0.565	0.38434	P	0.729	0.55225	P	0.000000	0.84330	D	0.033626	1	0.81001	D	2.135	0.59519	M	1.41	0.33412	T	-3.65	0.69950	D	0.838	0.83371	-0.9886	0.32953	T	0.091	0.34847	T	10	0.015191466	0.00319	T	.	.	.	0.249	0.55752	.	.	0.47290127212	0.46918	0.8276107065165884	0.82719	0.475302677234	0.46711	0.502338647842	0.39154	T	0.492506	0.81643	T	-0.218354	0.18219	T	-0.0734536	0.65379	T	0.0402720909980972	0.03740	T	0.962404	0.85901	D	0.7293651	0.79687	0.6762805	0.80990	0.7293651	0.79689	0.6762805	0.80990	-6.626	0.51251	T	.	.	0.178	0.38836	B	.	.	4.667868	0.74577	26.2	0.97712210610986427	0.35501	0.92415	0.55659	D	AEFGBCI	0.911945	0.87192	D	0.518253502972479	0.68171	5.180456	0.563569092563689	0.72348	5.795517	0.999999999249284	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.54	5.54	0.82907	6.221000	0.72188	7.885000	0.72726	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:0.0:1.0	15.992	0.80010	889	0.27310	Branched-chain alpha-ketoacid dehydrogenase kinase/Pyruvate dehydrogenase kinase, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.025680	0.025253	0.016304	0.070175	0.000000	0.068966	0.009146	0.011364	0.1429	1149.24	102	chr7	95592889	.	T	C	1149.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.26;DP=283;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=10.35;ReadPosRankSum=-1.255;SOR=0.699	GT:AD:DP:GQ:PL	0/1:56,46:102:99:1053,0,1259	5	0	2	0
chr7	100098200	100098200	C	T	exonic	MCM7	.	nonsynonymous SNV	MCM7:NM_001278595:exon6:c.G283A:p.V95I,MCM7:NM_182776:exon6:c.G283A:p.V95I,MCM7:NM_005916:exon7:c.G811A:p.V271I	.	435	1082	5	0	0	5	0.00230521	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.0129791181118	.	.	.	.	.	.	.	.	.	.	.	.	.	rs983730565	5.473e-06	5.472e-06	4.084e-06	6.875e-06	5.974e-05	2.35e-06	1.7e-06	9.89e-06	3.7e-06	5.974e-05	0	3.826e-05	0	0	0	3.597e-06	0	1.159e-05	6.571e-06	6.567e-06	1.285e-05	0	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	0.152	0.29688	T	0.143	0.36101	T	0.228	0.30509	B	0.083	0.29179	B	0.000077	0.52346	N	0.127997	0.999965	0.52935	D	1.125	0.28843	L	2.86	0.10482	T	-0.57	0.17210	N	0.207	0.26717	-1.0208	0.23454	T	0.021	0.08963	T	10	0.09164488	0.16071	T	0.012979	0.32017	T	0.028	0.06331	0.562	0.68229	0.17948927462	0.17512	0.37921119955267274	0.37836	0.12052743132	0.13571	0.314627617598	0.12606	T	0.135046	0.46664	T	-0.226261	0.17145	T	-0.562785	0.16117	T	0.140801385213249	0.16345	T	0.880312	0.67839	D	0.09379598	0.22037	0.057299353	0.10391	0.09379598	0.22037	0.057299353	0.10391	-4.901	0.38388	T	0.11528185615194625	0.10297	0.075	0.14108	B	.;.;.;.;.	.;.;.;.;.	1.280579	0.16803	12.77	0.96105747475789194	0.28727	0.25857	0.22824	N	AEFDBHCI	0.088696	0.17980	N	-0.732426919456018	0.15115	0.7589248	-0.763633976056603	0.15388	0.8090437	0.999999370099103	0.74766	0.722319	0.85440	0	0.696144	0.67643	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	4.45	1.33	0.20958	0.531000	0.22759	0.510000	0.19072	-0.257000	0.07002	0.067000	0.21986	0.071000	0.22219	0.484000	0.28656	0.0:0.6998:0.0:0.3002	8.121	0.30130	185	0.92771	.;.;.;MCM OB domain;MCM OB 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	1416.46	120	chr7	100098200	.	C	T	1416.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.36;DP=307;ExcessHet=0;FS=0.683;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.8;ReadPosRankSum=-0.492;SOR=0.804	GT:AD:DP:GQ:PL	0/1:56,64:120:99:1427,0,1309	6	0	1	0
chr7	100175805	100175805	G	C	exonic	GPC2	.	nonsynonymous SNV	GPC2:NM_152742:exon3:c.C415G:p.L139V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.0084618148058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	5.746e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.19293	T	0.264	0.22761	T	0.002	0.09854	B	0.003	0.08700	B	0.011788	0.29400	N	0.319847	0.999984	0.18198	N	1.1	0.28011	L	0.82	0.48142	T	0.09	0.05917	N	0.115	0.10340	-1.0389	0.17648	T	0.045	0.19194	T	10	0.06973243	0.10047	T	0.008462	0.22382	T	0.015	0.02232	0.409	0.44395	0.260249123532	0.25628	0.12418845572528417	0.12344	0.308157786748	0.33120	0.309577137232	0.11843	T	0.086908	0.37827	T	-0.283254	0.10325	T	-0.644651	0.09334	T	0.086081848684672	0.10746	T	0.442656	0.12286	T	0.043123998	0.06666	0.05641909	0.10077	0.043123998	0.06665	0.05641909	0.10077	-4.159	0.26155	T	.	.	0.065	0.01960	B	.	.	1.692672	0.21567	15.25	0.93331368040686369	0.23058	0.23428	0.22073	N	AEFBI	0.121001	0.23544	N	-0.863199556233683	0.11727	0.5675084	-0.716315475991125	0.16555	0.876308	0.999171803000595	0.38651	0.52065	0.21626	1	0.588066	0.40923	0	0.719019	0.79029	0	0.604944	0.38103	0	.	.	5.06	2.18	0.26813	0.676000	0.24927	3.139000	0.36475	-0.186000	0.09761	0.000000	0.06391	1.000000	0.68203	0.968000	0.53726	0.0949:0.3504:0.5547:0.0	7.051	0.24254	285	0.88719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	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|1:36,16:52:99:0|1:100175805_G_C:343,0,1318:100175805	0	0	6	1
chr7	100430206	100430206	C	T	exonic	MEPCE	.	nonsynonymous SNV	MEPCE:NM_019606:exon1:c.C188T:p.A63V	.	425	1092	4	1	0	6	0.00273973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.00505467191084	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.725e-06	2.736e-06	0	3.605e-06	2.071e-06	2.9e-07	1.1e-07	3.4e-07	1.3e-07	0	0	0	0	0	0	2.071e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.572	0.06145	T	0.444	0.13177	T	0.0	0.02946	B	0.001	0.04355	B	0.304353	0.03974	N	1.742030	1	0.28795	N	0	0.06538	N	.	.	.	0.07	0.06138	N	0.148	0.15046	-1.0286	0.20908	T	0.062	0.25923	T	9	0.052541584	0.05304	T	0.005055	0.12784	T	0.020	0.03691	0.262	0.20631	0.082315109003	0.07666	0.20437632182995674	0.20354	0.957395983082	0.72880	0.721860766411	0.70317	T	0.015486	0.12979	T	-0.236631	0.15781	T	-0.577681	0.14752	T	0.0343897779164464	0.02704	T	0.451055	0.12757	T	0.026991494	0.01829	0.045151222	0.06010	0.026991494	0.01828	0.045151222	0.06010	-5.429	0.41197	T	.	.	0.093	0.14108	B	.	.	0.841900	0.12137	8.686	0.91206762212239345	0.20463	0.35774	0.25380	N	ALL	0.043490	0.06880	N	-1.18481983704941	0.05229	0.237897	-1.17150886380918	0.06390	0.3074245	0.999999999980371	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.519653	0.09787	0	0.372554	0.06265	0	.	.	4.08	2.25	0.27340	0.262000	0.18229	2.012000	0.30169	-0.286000	0.06345	0.000000	0.06391	0.014000	0.20376	0.000000	0.00833	0.0:0.7808:0.0:0.2192	7.178	0.24932	463	0.78548	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	230.84	32	chr7	100430206	.	C	T	230.84	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.701;DP=162;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.21;ReadPosRankSum=-0.557;SOR=0.757	GT:AD:DP:GQ:PL	0/1:19,13:32:99:241,0,424	6	0	1	0
chr7	100773851	100773851	A	0	exonic	ZAN	.	.	.	.	428	140	242	44	668	998	0.540984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	1021.11	81	chr7	100773851	.	A	*	1021.11	.	AC=5;AF=0.357;AN=14;DP=423;ExcessHet=0.0509;FS=2.771;MLEAC=5;MLEAF=0.357;MQ=60;QD=3.04;SOR=0.878	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,81:81:99:1|1:100773849_CCAT_C:3604,244,0:100773849	3	1	3	0
chr7	100952945	100952945	C	0	exonic	MUC3A	.	.	.	.	418	423	166	0	515	681	0.164032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	1756.07	430	chr7	100952945	.	C	*	1756.07	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-0.443;DP=3462;ExcessHet=14.2834;FS=0;MLEAC=5;MLEAF=0.357;MQ=58.69;MQRankSum=-8.839;QD=0.51;ReadPosRankSum=1.96;SOR=0.679	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:264,121:430:99:0|1:100952942_T_G:4286,0,10721:100952942	2	0	5	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|1:252,71:366:99:0|1:100953112_T_A:2223,0,10368:100953112	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	0/1:250,68:359:99:.:.:2103,0,10293:.	2	0	5	0
chr7	100953661	100953661	G	0	exonic	MUC3A	.	.	.	.	840	451	225	5	1	236	0.206684	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	13966.9	588	chr7	100953661	.	G	*	13966.9	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.81;DP=5125;ExcessHet=14.2834;FS=0.776;MLEAC=1;MLEAF=0.071;MQ=56.74;MQRankSum=-11.47;QD=2.73;ReadPosRankSum=0.038;SOR=0.702	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:504,72:588:99:0|1:100953661_G_*:1610,0,20920:100953661	6	0	1	0
chr7	100953663	100953663	C	0	exonic	MUC3A	.	.	.	.	859	431	226	5	1	237	0.214936	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	14518.0	589	chr7	100953663	.	C	*	14518.0	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.25;DP=5094;ExcessHet=14.2834;FS=0.776;MLEAC=1;MLEAF=0.071;MQ=56.81;MQRankSum=-11.54;QD=2.85;ReadPosRankSum=0.591;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:505,72:589:99:0|1:100953661_G_*:1607,0,20962:100953661	6	0	1	0
chr7	102934282	102934282	G	C	exonic	LRRC17	.	nonsynonymous SNV	LRRC17:NM_001031692:exon2:c.G369C:p.E123D,LRRC17:NM_005824:exon2:c.G369C:p.E123D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.00550950631605	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.541	0.10678	T	0.0	0.02946	B	0.002	0.06944	B	0.004721	0.33446	N	0.207615	1	0.81001	D	-0.18	0.04256	N	0.26	0.59314	T	2.97	0.00304	N	0.088	0.06587	-0.9900	0.32601	T	0.059	0.24871	T	10	0.0402624	0.02580	T	0.00551	0.14197	T	0.102	0.29158	0.593	0.72247	0.630674063255	0.62765	0.32803734693529624	0.32716	0.23164822142	0.25718	0.39575278759	0.24477	T	0.001762	0.01186	T	-0.263963	0.12439	T	-0.616941	0.11426	T	0.0953304618597031	0.11836	T	0.758424	0.38228	T	0.07261241	0.16165	0.063943654	0.12744	0.07261241	0.16165	0.063943654	0.12743	-1.533	0.03110	T	.	.	0.084	0.33156	B	.;.	.;.	1.403225	0.18178	13.59	0.79853046318071419	0.12930	0.67709	0.33531	D	AEFDBIJ	0.199371	0.32618	N	-0.6476857485773	0.17528	0.9027043	-0.402716744649766	0.24916	1.367225	0.999999761740133	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.338622	0.05889	2	0.613276	0.41899	0	.	.	5.52	3.61	0.40494	0.038000	0.13749	0.020000	0.13575	0.676000	0.76740	0.830000	0.30133	0.455000	0.24973	0.993000	0.69303	0.1452:0.1381:0.7166:0.0	7.418	0.26231	455	0.79073	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	412.11	59	chr7	102934282	.	G	C	412.11	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-2.405;DP=373;ExcessHet=2.5225;FS=246.061;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=1.64;ReadPosRankSum=1.36;SOR=7.941	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:46,11:59:99:.:.:109,0,1478:.	3	0	4	0
chr7	102934283	102934283	G	C	exonic	LRRC17	.	nonsynonymous SNV	LRRC17:NM_001031692:exon2:c.G370C:p.A124P,LRRC17:NM_005824:exon2:c.G370C:p.A124P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.686	0.102285869568	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.642e-05	1.362e-06	1.376e-06	8.996e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.996e-07	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.013	0.63109	D	1.0	0.90584	D	0.999	0.92359	D	0.000018	0.62929	D	0.000000	1	0.81001	D	2.48	0.72069	M	0.09	0.61443	T	-4.69	0.79743	D	0.866	0.91621	-0.0790	0.80575	T	0.414	0.76122	T	10	0.83823025	0.82978	D	0.102286	0.77566	D	0.686	0.88538	0.608	0.74063	0.884098710478	0.88296	0.8411723386298476	0.84077	1.02869255285	0.75355	0.595906376839	0.52327	T	0.053493	0.29459	T	0.351657	0.86616	D	0.267354	0.86441	D	0.998028337955475	0.93033	D	0.90001	0.65919	D	0.958163	0.97095	0.93957394	0.97739	0.958163	0.97095	0.93957394	0.97740	-8.842	0.66674	D	.	.	0.973	0.90137	P	.;.	.;.	4.615823	0.73244	26.0	0.99771405677723168	0.85918	0.99139	0.91801	D	AEFDBIJ	0.974099	0.99537	D	0.77679732466033	0.84635	8.343356	0.724224124696295	0.84219	8.231214	0.999999999999933	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.338622	0.05889	2	0.613276	0.41899	0	.	.	5.52	4.65	0.57626	8.066000	0.89276	4.610000	0.44033	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0697:0.0:0.9303:0.0	14.775	0.69347	455	0.79073	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	459.12	61	chr7	102934283	.	G	C	459.12	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-1.418;DP=470;ExcessHet=2.5225;FS=339.92;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=1.79;ReadPosRankSum=0.875;SOR=8.581	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:46,15:61:99:.:.:128,0,1478:.	3	0	4	0
chr7	103596518	103596518	G	T	exonic	RELN	.	nonsynonymous SNV	RELN:NM_005045:exon25:c.C3477A:p.N1159K,RELN:NM_173054:exon25:c.C3477A:p.N1159K	Lissencephaly 2 (Norman-Roberts type), Autosomal recessive	1	1499	22	0	0	22	0.00728477	.	.	.	265480	Norman-Roberts_syndrome|Familial_temporal_lobe_epilepsy_7|not_specified|Self-limited_epilepsy_with_centrotemporal_spikes|RELN-related_disorder|not_provided	MONDO:MONDO:0009760,MedGen:C0796089,OMIM:257320,Orphanet:89844|MONDO:MONDO:0014639,MedGen:C4225327,OMIM:616436,Orphanet:101046|MedGen:CN169374|MONDO:MONDO:0007295,MedGen:C0376532,Orphanet:1945|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.100	0.0123328672847	0.0024	0.000998403	0.0017	0.0004	0.0011	0	0.0003	0.0024	0.0022	0.0017	0.0016753	259	154602	rs114684479	0.0017	0.0017	0.0017	0.0018	0.0085	0.0017	0.0017	0.0066	0.0059	0.0004	0.0011	0.0036	0	0.0002	0.0085	0.0018	0.0023	0.0018	0.0014	0.0014	0.0017	0.0012	0.0023	0.0013	0.0012	0.0020	0.0019	0.0004	0	0.0014	0.0026	0	0	0.0068	0.0023	0.0024	0.0012	0.065	0.36310	T	0.006	0.70582	D	0.993	0.70673	D	0.968	0.71741	D	0.000000	0.84330	D	0.000000	0.999316	0.46639	D	2.135	0.59519	M	1.93	0.40749	T	-1.97	0.45587	N	0.802	0.79792	-0.7423	0.58334	T	0.222	0.58562	T	10	0.034067214	0.01602	T	0.012333	0.30806	T	0.100	0.28662	0.443	0.49975	0.582439298246	0.57915	0.7160210259459234	0.71545	0.334481402092	0.35464	0.660431861877	0.61471	T	0.12837	0.45598	T	-0.433301	0.01416	T	-0.401041	0.33264	T	0.0202194386212343	0.00722	T	0.926307	0.72903	D	0.21267676	0.43626	0.23037976	0.48138	0.19648728	0.41478	0.23178662	0.48320	-6.371	0.49283	T	0.5262139601829272	0.59774	0.571	0.67673	P	.;.;.	.;.;.	4.014742	0.59257	24.1	0.99859663217484318	0.93820	0.93134	0.57415	D	AEFI	0.738209	0.68316	D	0.675560567315045	0.78031	6.790338	0.673584547766623	0.80377	7.285509	0.845672714566861	0.24948	0.615465	0.37627	0	0.573888	0.26702	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	5.81	5.81	0.92413	2.171000	0.42080	5.969000	0.51963	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.1387:0.0:0.8613:0.0	11.424	0.49241	901	0.24189	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.010574	0.010101	0.014946	0.011696	0.100000	0.000000	0.009146	0.007576	0.07143	1011.44	87	chr7	103596518	.	G	T	1011.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.86;DP=279;ExcessHet=0;FS=1.761;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.63;ReadPosRankSum=3.19;SOR=0.97	GT:AD:DP:GQ:PL	0/1:47,40:87:99:1022,0,1106	6	0	1	0
chr7	107931500	107931500	C	T	exonic	LAMB1	.	nonsynonymous SNV	LAMB1:NM_002291:exon29:c.G4393A:p.V1465I	Lissencephaly 5, Autosomal recessive	2	1518	2	0	0	2	0.000658328	0.8583	0.656	.	513572	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.050	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.36509	T	0.093	0.39799	T	0.075	0.24198	B	0.171	0.35348	B	.	.	.	.	1	0.81001	D	2.105	0.58435	M	1.47	0.31987	T	-0.6	0.17834	N	0.229	0.30687	-1.0210	0.23389	T	0.098	0.36754	T	9	0.17468458	0.32361	T	0.01732	0.38971	T	0.050	0.13987	0.271	0.22052	0.28722502521	0.28325	0.40996437075337444	0.40912	0.0797094319076	0.08973	0.37497895956	0.21543	T	0.101402	0.40812	T	-0.16631	0.25795	T	-0.476669	0.24801	T	0.753503630586503	0.43481	D	0.846915	0.52723	T	0.13003767	0.30354	0.12462034	0.30035	0.09853129	0.23241	0.12143154	0.29297	-5.703	0.43721	T	.	.	0.226	0.47481	B	.;.	.;.	3.669642	0.52172	23.2	0.99560194598161955	0.71707	0.92804	0.56586	D	AEFBCI	0.606801	0.59701	D	0.0608397925909617	0.44643	2.734573	0.195551139691053	0.49602	3.161489	0.999999999737319	0.74766	0.706298	0.61202	0	0.601575	0.49859	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	5.62	4.75	0.59954	5.536000	0.66891	3.367000	0.37903	0.530000	0.24713	1.000000	0.71638	1.000000	0.68203	0.928000	0.46473	0.0:0.9291:0.0:0.0709	14.317	0.66014	748	0.52143	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	403.63	46	chr7	107931500	.	C	T	403.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.659;DP=228;ExcessHet=0;FS=1.152;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.77;ReadPosRankSum=-1.351;SOR=0.509	GT:AD:DP:GQ:PL	0/1:27,19:46:99:414,0,746	6	0	1	0
chr7	107935509	107935509	G	A	exonic	LAMB1	.	nonsynonymous SNV	LAMB1:NM_002291:exon27:c.C4094T:p.S1365F	Lissencephaly 5, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	3518901	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.096	0.0124858841587	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs201668649	1.368e-06	1.368e-06	1.361e-06	1.375e-06	0.0003	2.3e-07	9e-08	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.024	0.56640	D	0.771	0.43934	P	0.431	0.45421	B	.	.	.	.	0.996531	0.43261	D	1.79	0.46772	L	1.37	0.34253	T	-3.23	0.65056	D	0.225	0.28616	-1.0148	0.25400	T	0.109	0.39320	T	9	0.18159473	0.33398	T	0.012486	0.31109	T	0.096	0.27654	0.216	0.13643	0.491863012465	0.48820	0.3423830466667583	0.34151	0.179822720572	0.20224	0.40273296833	0.25449	T	0.328186	0.69862	T	-0.16423	0.26111	T	-0.473681	0.25121	T	0.97940731048584	0.72814	D	0.885611	0.61095	D	0.23223415	0.46008	0.29268664	0.55296	0.23223415	0.46008	0.29268664	0.55295	-4.473	0.30534	T	.	.	0.125	0.26294	B	.;.	.;.	3.742782	0.53604	23.4	0.99605680491501436	0.74516	0.95442	0.64737	D	AEFDBCIJ	0.664004	0.63332	D	0.317907105610071	0.57069	3.872829	0.42715085178924	0.63261	4.55655	0.999999998667581	0.74766	0.75658	0.98901	0	0.550933	0.16991	0	0.858454	0.99976	0	0.735409	0.98432	0	.	.	5.42	5.42	0.78666	5.051000	0.64074	7.477000	0.59216	0.676000	0.76740	0.996000	0.39380	1.000000	0.68203	0.852000	0.40310	0.0:0.0:1.0:0.0	19.401	0.94618	749	0.51929	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	786.44	71	chr7	107935509	.	G	A	786.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.693;DP=273;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.08;ReadPosRankSum=-0.961;SOR=0.741	GT:AD:DP:GQ:PL	0/1:35,36:71:99:797,0,809	6	0	1	0
chr7	107937212	107937212	G	C	exonic	LAMB1	.	nonsynonymous SNV	LAMB1:NM_002291:exon26:c.C3827G:p.S1276C	Lissencephaly 5, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.0154261369968	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.63226	D	0.017	0.60337	D	0.927	0.51527	P	0.478	0.47030	P	.	.	.	.	1	0.08975	N	2.14	0.59869	M	1.36	0.34452	T	-3.13	0.63901	D	0.267	0.31253	-1.0346	0.18983	T	0.086	0.33298	T	9	0.14093909	0.26784	T	0.015426	0.36156	T	0.140	0.37593	0.367	0.37524	0.353125101423	0.34923	0.14100992580359425	0.14023	0.15236135087	0.17194	0.283424139023	0.07975	T	0.331668	0.70172	T	-0.07443	0.40615	T	-0.34469	0.39814	T	0.531155090704422	0.33777	D	0.80472	0.45238	T	0.22046813	0.44603	0.22438765	0.47350	0.22046813	0.44603	0.22438765	0.47349	-9.842	0.72960	D	.	.	0.171	0.42491	B	.;.	.;.	2.077743	0.26423	17.11	0.98500200650852121	0.42204	0.46521	0.27778	N	AEFDBCI	0.245373	0.36632	N	-0.257854270998259	0.30791	1.720204	-0.268367132475962	0.29147	1.630669	0.999996486782026	0.74766	0.722319	0.85440	0	0.588066	0.40923	0	0.709663	0.75317	0	0.735409	0.98432	0	.	.	5.95	4.13	0.47661	0.686000	0.25072	2.976000	0.35819	0.676000	0.76740	0.001000	0.13787	0.572000	0.25577	0.991000	0.66497	0.0686:0.0:0.667:0.2644	8.873	0.34488	739	0.53257	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	925.44	72	chr7	107937212	.	G	C	925.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.453;DP=256;ExcessHet=0;FS=7.826;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.85;ReadPosRankSum=0.215;SOR=0.731	GT:AD:DP:GQ:PL	0/1:33,39:72:99:936,0,748	6	0	1	0
chr7	117542062	117542062	C	T	exonic	CFTR	.	nonsynonymous SNV	CFTR:NM_000492:exon9:c.C1163T:p.T388M	Congenital bilateral absence of vas deferens, Autosomal recessive;Cystic fibrosis, Autosomal recessive;Sweat chloride elevation without CF (3)	3	1510	9	0	0	9	0.00297128	.	.	.	487199	CFTR-related_disorder|not_specified|not_provided|Hereditary_pancreatitis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation|Bronchiectasis_with_or_without_elevated_sweat_chloride_1|Cystic_fibrosis	MedGen:C5924204|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180,Orphanet:48|MONDO:MONDO:0008887,MedGen:C2749757,OMIM:211400,Orphanet:60033|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:586	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.601	0.423738431628	7.7e-05	.	0.0001	0	0.0002	0	0	0.0001	0.0011	0.0003	0.00011	17	154602	rs143860237	0.0001	0.0001	8.381e-05	0.0001	0.0023	0.0001	9.575e-05	0.0013	0.0011	0	0.0001	0	0.0001	0	0.0023	8.078e-05	0.0001	0.0005	0.0001	0.0001	0.0001	0.0001	0.0002	7.095e-05	5.75e-05	7.91e-05	5.995e-05	7.238e-05	0	0.0001	0	0.0002	0	0	0.0001	0	0.0002	0.113	0.29158	T	0.116	0.36497	T	0.65	0.40644	P	0.1	0.30674	B	0.000000	0.84330	N	0.092382	0.999692	0.48338	D	1.26	0.31868	L	-3.03	0.92613	D	-1.06	0.27669	N	0.804	0.79986	0.235	0.86503	D	0.603	0.85872	D	10	0.2851867	0.46101	T	0.423738	0.93845	D	0.601	0.84237	.	.	0.992697746924	0.99261	0.7520671217846666	0.75153	0.00540111965589	0.00476	0.415776461363	0.27255	T	0.573689	0.85927	D	0.0795423	0.61987	D	0.186999	0.82398	D	0.0530084223274266	0.06021	T	0.90471	0.66491	D	0.17670465	0.38597	0.16910748	0.38920	0.18912923	0.40441	0.23801953	0.49113	-6.278	0.48548	T	0.5950192153524002	0.66188	0.098	0.30130	B	.;.;.;.;.	.;.;.;.;.	3.990498	0.58732	24.0	0.99025538745849717	0.50677	0.90432	0.51603	D	AEFI	0.674434	0.64016	D	0.161805877816176	0.49372	3.138372	0.26952030121205	0.53768	3.544157	0.504607880583997	0.20970	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.645665	0.59343	0	.	.	5.62	4.73	0.59485	4.064000	0.57221	4.841000	0.45285	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.9259:0.0:0.0741	13.971	0.63755	779	0.47767	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.07143	433.46	28	chr7	117542062	.	C	T	433.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.753;DP=202;ExcessHet=0;FS=1.562;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.48;ReadPosRankSum=2.38;SOR=1.179	GT:AD:DP:GQ:PL	0/1:10,18:28:99:444,0,188	6	0	1	0
chr7	122013164	122013164	A	T	exonic	PTPRZ1	.	nonsynonymous SNV	PTPRZ1:NM_001369395:exon12:c.A4118T:p.H1373L,PTPRZ1:NM_002851:exon12:c.A4118T:p.H1373L,PTPRZ1:NM_001369396:exon13:c.A4076T:p.H1359L	.	428	1076	18	0	0	18	0.00829493	.	.	.	2335641	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.029	0.00615047938991	0.0003	0.000599042	0.0006	9.612e-05	8.637e-05	0	0	0.0007	0	0.0013	0.0005045	78	154602	rs145746316	0.0004	0.0004	0.0003	0.0005	0.0026	0.0004	0.0003	0.0016	0.0013	2.987e-05	0.0002	0	0	5.616e-05	0.0026	0.0003	0.0007	0.0013	0.0003	0.0003	0.0004	0.0002	0.0010	0.0002	0.0002	0.0004	0.0003	0	0	0.0003	0	0	9.413e-05	0.0068	0.0005	0	0.0010	0.301	0.14449	T	0.673	0.06245	T	0.0	0.02946	B	0.0	0.01387	B	0.777422	0.09498	N	0.896611	1	0.19486	N	0.69	0.16971	N	1.06	0.39781	T	-1.19	0.30346	N	0.052	0.02366	-1.0203	0.23616	T	0.047	0.20275	T	10	0.0065009	0.00147	T	0.00615	0.16111	T	0.029	0.06676	.	.	0.0675242888579	0.06100	0.32915003274889704	0.32828	0.125427775553	0.14139	0.245896413922	0.03348	T	0.117039	0.43683	T	-0.507188	0.00521	T	-0.54185	0.18115	T	0.0134316485071541	0.00244	T	0.410559	0.10607	T	0.059687782	0.12161	0.036062274	0.02977	0.059687782	0.12161	0.036062274	0.02977	-2.57	0.06278	T	.	.	0.077	0.06387	B	.	.	0.700256	0.10689	7.385	0.87917767508485956	0.17579	0.09414	0.15175	N	AEFDBIJ	0.058127	0.10882	N	-1.1309987928269	0.06098	0.2798219	-1.08584333932725	0.07978	0.3903161	0.0408935380785449	0.14460	0.67177	0.52595	0	0.59043	0.45803	0	0.702456	0.68683	0	0.530356	0.10902	0	.	.	5.62	-1.66	0.07824	0.646000	0.24486	1.779000	0.28700	-0.040000	0.17491	0.073000	0.22155	0.054000	0.21897	0.920000	0.45560	0.4411:0.2256:0.1275:0.2058	1.113	0.01603	741	0.52966	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.000000	0.001359	0.002924	0.000000	0.000000	0.006098	0.003788	0.07143	1110.46	70	chr7	122013164	.	A	T	1110.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.099;DP=247;ExcessHet=0;FS=8.231;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.86;ReadPosRankSum=-0.594;SOR=1.342	GT:AD:DP:GQ:PL	0/1:28,42:70:99:1121,0,701	6	0	1	0
chr7	123616399	123616399	A	G	exonic	ASB15	.	nonsynonymous SNV	ASB15:NM_080928:exon4:c.A196G:p.K66E,ASB15:NM_001290258:exon6:c.A196G:p.K66E	.	430	1081	11	0	0	11	0.00506213	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	0.0084754779281	0.0011	0.000798722	0.0016	0.0004	0.0019	0	0	0.0017	0.0033	0.0027	0.0015006	232	154602	rs146389595	0.0012	0.0012	0.0011	0.0013	0.0139	0.0011	0.0011	0.0114	0.0105	0.0008	0.0015	0.0121	0	1.873e-05	0.0139	0.0007	0.0026	0.0030	0.0009	0.0009	0.0009	0.0009	0.0033	0.0008	0.0007	0.0021	0.0017	0.0002	0	0.0008	0.0118	0	0	0.0272	0.0007	0.0019	0.0033	0.892	0.30656	T	0.96	0.92824	T	0.332	0.33274	B	0.186	0.36104	B	0.000001	0.84330	D	0.000000	0.991962	0.41520	D	1.955	0.52871	M	2.45	0.52416	T	-0.72	0.30555	N	0.422	0.46928	-0.9451	0.41797	T	0.137	0.45260	T	10	0.008272409	0.00188	T	0.008475	0.22407	T	0.159	0.41286	.	.	0.623888465017	0.62083	0.33115366317917055	0.33028	0.195611412408	0.21904	0.442374646664	0.30901	T	0.00741	0.06818	T	-0.287075	0.09932	T	-0.188818	0.55701	T	0.0427459386873625	0.04190	T	0.79572	0.43862	T	0.21618117	0.44070	0.29316846	0.55345	0.21618117	0.44069	0.29316846	0.55344	-4.073	0.24891	T	.	.	0.18	0.54368	B	.;.;.;.;.;.	.;.;.;.;.;.	2.810219	0.36988	20.4	0.9963365777917903	0.76203	0.98045	0.79135	D	AEDIJ	0.838380	0.75590	D	0.240152028362037	0.53154	3.485585	0.385193605664805	0.60650	4.255098	0.99973891051268	0.42341	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.73	5.73	0.89730	4.182000	0.58107	7.922000	0.74576	0.756000	0.94297	0.992000	0.37556	1.000000	0.68203	0.987000	0.62547	1.0:0.0:0.0:0.0	15.682	0.77130	690	0.58899	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011604	0.000000	0.016304	0.011696	0.000000	0.043103	0.006173	0.003788	0.07143	944.63	75	chr7	123616399	.	A	G	944.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.17;DP=282;ExcessHet=0;FS=0.868;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.6;ReadPosRankSum=1.29;SOR=0.753	GT:AD:DP:GQ:PL	0/1:37,38:75:99:955,0,858	6	0	1	0
chr7	128767656	128767656	-	TAAGT	splicing	CALU	NM_001130674:exon6:c.843+1->TAAGT;NM_001219:exon6:c.843+1->TAAGT;NM_001199672:exon7:c.867+1->TAAGT;NM_001199671:exon7:c.867+1->TAAGT	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.106e-06	4.104e-06	5.448e-06	2.751e-06	3.599e-06	1.48e-06	9.7e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.599e-06	3.313e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1009.79	44	chr7	128767656	.	G	GTAAGT	1009.79	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.05;DP=230;ExcessHet=0;FS=7.182;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=22.95;ReadPosRankSum=-0.394;SOR=1.949	GT:AD:DP:GQ:PL	0/1:18,26:44:99:1020,0,630	6	0	1	0
chr7	128893261	128893261	G	A	exonic	KCP	.	nonsynonymous SNV	KCP:NM_001366122:exon13:c.C1244T:p.A415V,KCP:NM_199349:exon13:c.C1244T:p.A415V	.	425	1077	19	1	0	21	0.00965517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0157748	0.0218	0.0005	0.0101	0.0017	0	0.0011	0.0213	0.0503	0.0035834	554	154602	rs199677638	0.0040	0.0039	0.0027	0.0053	0.0518	0.0039	0.0039	0.0505	0.0500	0.0003	0.0008	0	0.0001	2.036e-05	0.0018	0.0011	0.0046	0.0518	0.0023	0.0023	0.0016	0.0031	0.0509	0.0021	0.0020	0.0456	0.0436	0.0003	0	0.0016	0	0	0	0	0.0010	0.0014	0.0509	.	.	.	0.329	0.18789	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.09349	.	.	.	.	.	.	.	0.0024197698	0.00036	T	.	.	.	.	.	.	.	.	.	0.10850653874881283	0.10779	.	.	0.308590769768	0.11694	T	0.002273	0.04800	T	-0.423063	0.01636	T	-0.343233	0.39978	T	.	.	.	0.548745	0.20183	T	0.027362043	0.01916	0.1073498	0.25841	0.027362043	0.01916	0.1073498	0.25841	-6.026	0.46497	T	.	.	0.086	0.11366	B	.;.;.	.;.;.	0.432349	0.08027	4.746	0.58662788602678073	0.06044	0.05280	0.11122	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999999970831139	0.74766	0.158359	0.03455	1	0.096583	0.02683	0	0.175771	0.04330	1	0.058706	0.01089	0	0.106538	0.23126	4.21	-2.36	0.06282	-0.314000	0.08132	-0.235000	0.10642	-0.106000	0.15538	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.1189:0.2438:0.4254:0.2118	2.219	0.03725	542	0.72843	VWFC domain|VWFC domain;VWFC domain|VWFC domain;VWFC domain|VWFC domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.000000	0.003597	0.000000	0.000000	0.004132	0.035211	0.07143	586.53	44	chr7	128893261	.	G	A	586.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.82;DP=217;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.33;ReadPosRankSum=0.106;SOR=0.883	GT:AD:DP:GQ:PL	0/1:22,22:44:99:597,0,482	6	0	1	0
chr7	129451613	129451613	T	C	exonic	STRIP2	.	nonsynonymous SNV	STRIP2:NM_001134336:exon4:c.T275C:p.V92A,STRIP2:NM_020704:exon4:c.T275C:p.V92A	.	430	1084	7	1	0	9	0.00413413	0.0002	0.012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.015892376828	.	0.000399361	0.0006	0.0002	8.639e-05	0	0	0	0	0.0043	0.0004916	76	154602	rs570968068	0.0002	0.0002	0.0001	0.0004	0.0040	0.0002	0.0002	0.0037	0.0036	2.987e-05	0	0	0	0	0.0002	0	0.0002	0.0040	0.0001	0.0001	6.427e-05	0.0002	0.0035	7.574e-05	6.279e-05	0.0022	0.0018	2.407e-05	0	0	0	0	0	0	0	0	0.0035	0.518	0.07307	T	0.614	0.07592	T	0.001	0.14184	B	0.002	0.16460	B	0.012451	0.29170	N	0.316635	0.994143	0.42177	D	1.63	0.41750	L	0.94	0.43672	T	-0.45	0.14782	N	0.235	0.26475	-1.0655	0.10432	T	0.088	0.34105	T	9	0.005226195	0.00114	T	0.015892	0.36869	T	0.079	0.23065	.	.	0.225215365344	0.22153	0.18236902444862638	0.18155	0.277347193824	0.30209	0.478532910347	0.35855	T	0.008538	0.07834	T	-0.45088	0.01116	T	-0.420715	0.30994	T	0.0173584750814703	0.00475	T	0.615438	0.23533	T	0.04957262	0.08822	0.042647082	0.05128	0.04957262	0.08822	0.042647082	0.05127	-2.616	0.06829	T	.	.	0.134	0.36966	B	.;.	.;.	2.914601	0.38671	20.8	0.89308535858219351	0.18686	0.79548	0.39439	D	AEFBI	0.114472	0.22546	N	-0.219188378457949	0.32347	1.823248	-0.117446591172619	0.34686	1.998083	0.627915658182146	0.21942	0.651	0.46895	0	0.588066	0.40923	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	4.45	3.27	0.36580	2.164000	0.42013	7.833000	0.70197	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.851000	0.40252	0.0:0.0:0.1773:0.8227	9.579	0.38644	763	0.50172	Far11/STRP, N-terminal|Far11/STRP, N-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	646.45	69	chr7	129451613	.	T	C	646.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.557;DP=254;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.37;ReadPosRankSum=0;SOR=0.674	GT:AD:DP:GQ:PL	0/1:41,28:69:99:657,0,1032	6	0	1	0
chr7	130322526	130322526	C	A	exonic	CPA4	.	nonsynonymous SNV	CPA4:NM_001163446:exon10:c.C1017A:p.D339E,CPA4:NM_016352:exon11:c.C1116A:p.D372E	.	423	1096	3	0	0	3	0.00136674	.	.	.	2342976	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.027	0.00493272029561	0.0005	0.000199681	0.0004	0	0.0003	0	0	0.0006	0.0022	0	0.0003363	52	154602	rs143094036	0.0003	0.0003	0.0003	0.0004	0.0009	0.0003	0.0003	0.0003	0.0002	0	0.0003	0.0042	0	0	0.0009	0.0003	0.0006	8.116e-05	0.0003	0.0003	0.0003	0.0004	0.0004	0.0002	0.0002	0.0003	0.0002	2.407e-05	0	0.0001	0.0043	0	0	0.0034	0.0004	0.0009	0	0.088	0.36113	T	0.124	0.40909	T	0.003	0.11197	B	0.009	0.14300	B	0.001372	0.39242	N	0.279574	0.973283	0.25555	N	0.755	0.19153	N	2.94	0.09728	T	-1.48	0.37375	N	0.065	0.03726	-1.0034	0.28933	T	0.013	0.05033	T	10	0.0049965978	0.00107	T	0.004933	0.12411	T	0.027	0.05988	0.573	0.69695	0.399596177874	0.39575	0.6677513880996173	0.66713	0.112203004936	0.12660	0.366407066584	0.20315	T	0.037444	0.24479	T	-0.57525	0.00206	T	-0.74601	0.03643	T	0.0176041674534016	0.00493	T	0.780122	0.41468	T	0.3325188	0.55676	0.14472413	0.34349	0.3325188	0.55676	0.14472413	0.34348	-6.118	0.47256	T	.	.	0.204	0.48135	B	.;.;.;.	.;.;.;.	0.180609	0.05683	2.130	0.80907707482337954	0.13426	0.09341	0.15117	N	AEFBCI	0.094418	0.19091	N	-1.58521685443178	0.01340	0.05838322	-1.65228951802282	0.01364	0.06160434	0.999892673799355	0.45129	0.648238	0.45900	0	0.573888	0.26702	0	0.624306	0.44879	0	0.542086	0.14980	0	.	.	5.75	-7.35	0.01275	-1.621000	0.02147	-0.818000	0.07307	-0.986000	0.01871	0.000000	0.06391	0.001000	0.17328	0.058000	0.15825	0.1125:0.5065:0.0819:0.2991	6.812	0.22997	613	0.66686	Peptidase M14, carboxypeptidase A|Peptidase M14, carboxypeptidase A|Carboxypeptidase A, carboxypeptidase domain;.;Peptidase M14, carboxypeptidase A|Peptidase M14, carboxypeptidase A|Carboxypeptidase A, carboxypeptidase domain;Peptidase M14, carboxypeptidase A|Peptidase M14, carboxypeptidase A|Carboxypeptidase A, 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	0.001511	0.000000	0.001359	0.002924	0.000000	0.008621	0.000000	0.000000	0.07143	869.44	94	chr7	130322526	.	C	A	869.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.872;DP=367;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.25;ReadPosRankSum=-1.674;SOR=0.75	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,39:94:99:0|1:130322520_A_G:880,0,1487:130322520	6	0	1	0
chr7	132385246	132385246	C	T	exonic	PLXNA4	.	nonsynonymous SNV	PLXNA4:NM_001105543:exon4:c.G1421A:p.R474Q	.	429	1092	1	0	0	1	0.000457666	.	.	.	2797537	PLXNA4-related_disorder	.	no_assertion_criteria_provided	Uncertain_significance	.	.	.	.	.	.	.	.	0.027	0.00313185050338	8.3e-05	0.000199681	4.158e-05	0.0004	0	0	0	0	0.0011	0	3.88e-05	6	154602	rs191301122	3.626e-05	3.625e-05	3.267e-05	3.988e-05	0.0008	2.828e-05	2.565e-05	0.0005	0.0005	0.0008	0	0	0	0	0	1.709e-05	8.28e-05	3.479e-05	0.0002	0.0002	0.0002	0.0002	0.0006	0.0001	9.703e-05	0.0004	0.0004	0.0006	0	0	0	0	0	0	0	0	0	0.148	0.24857	T	0.383	0.15842	T	0.154	0.28120	B	0.029	0.21540	B	.	.	.	.	1	0.08975	N	.	.	.	4.35	0.02319	T	0.04	0.06488	N	0.044	0.01658	-0.9190	0.45689	T	0.006	0.02093	T	8	0.02604866	0.00781	T	0.003132	0.06815	T	0.027	0.05988	.	.	0.0675242888579	0.06100	.	.	.	.	.	.	.	.	.	.	-0.666725	0.00057	T	-0.841447	0.01077	T	0.00662330351769924	0.00074	T	0.450355	0.12714	T	.	.	.	.	.	.	.	.	-3.628	0.18263	T	.	.	0.086	0.10835	B	.	.	0.503214	0.08720	5.496	0.87132209909720393	0.17010	0.05037	0.10822	N	AEFBI	0.074483	0.14930	N	-1.08078241999877	0.06997	0.3237741	-1.12280288362718	0.07265	0.3527748	0.789428794959677	0.23989	0.475973	0.10046	0	0.59043	0.45803	0	0.547309	0.15389	0	0.528226	0.09195	0	.	.	5.33	1.59	0.22622	0.148000	0.16042	-0.072000	0.12285	-0.850000	0.02721	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.5993:0.15:0.2506	5.088	0.14026	909	0.22467	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	748.49	43	chr7	132385246	.	C	T	748.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.358;DP=220;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.41;ReadPosRankSum=1.02;SOR=0.88	GT:AD:DP:GQ:PL	0/1:10,33:43:99:759,0,143	6	0	1	0
chr7	142060310	142060310	G	A	splicing	MGAM	NM_001365693:exon34:c.4060-1G>A;NM_004668:exon34:c.4060-1G>A	.	.	.	435	1084	3	0	0	3	0.00138185	1.0000	0.89	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	4.977e-05	0	8.684e-05	0	0	0	0	0.0003	4.53e-05	7	154602	rs554705939	2.532e-05	3.078e-05	2.042e-05	3.026e-05	0.0002	1.868e-05	1.631e-05	0.0001	0.0001	0	0.0002	0	0	0	0.0002	2.698e-06	8.283e-05	0.0002	8.533e-05	0.0001	5.139e-05	0.0001	0.0008	4.952e-05	3.959e-05	0.0005	0.0004	0	0	0.0008	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0615913	0.42659	T	-0.0327611	0.68186	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	5.247041	0.88089	29.5	0.98036714890257282	0.37758	0.99005	0.89843	D	AEFDBI	.	.	.	0.880100548799754	0.90753	10.54864	0.643945629922265	0.78160	6.820816	0.999955437514231	0.48110	0.053691	0.00478	0	0.059962	0.00310	0	0.063197	0.01477	0	0.062806	0.01542	0	0.797233	0.47171	3.89	3.89	0.44098	9.538000	0.97148	.	.	0.342000	0.19800	1.000000	0.71638	1.000000	0.68203	0.092000	0.17891	0.0:0.0:1.0:0.0	14.699	0.68758	.	.	.;.;.	.	.	.	.	.	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	1258.44	308	chr7	142060310	.	G	A	1258.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.754;DP=1326;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=4.09;ReadPosRankSum=0.29;SOR=0.664	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:233,75:308:99:0|1:142060121_T_C:1269,0,6309:142060121	6	0	1	0
chr7	143478290	143478290	A	G	exonic	TAS2R41	.	nonsynonymous SNV	TAS2R41:NM_176883:exon1:c.A418G:p.I140V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.00241750934598	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs373019967	6.544e-06	0.0009	4.362e-06	8.725e-06	7.733e-06	3.08e-06	2.23e-06	3.33e-06	2.4e-06	0	0	0	0	1.901e-05	0	7.733e-06	0	0	0	1.985e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.149	0.24758	T	0.412	0.14456	T	0.08	0.24543	B	0.074	0.28220	B	0.947612	0.07634	N	1.033800	1	0.08975	N	1.015	0.25427	L	5.65	0.00784	T	-0.47	0.15178	N	0.052	0.02366	-0.9758	0.35948	T	0.003	0.01092	T	10	0.07525703	0.11609	T	0.002418	0.04757	T	0.028	0.06331	0.652	0.78963	0.101711395817	0.09552	0.04758141662796776	0.04701	0.0497017490909	0.05451	0.254782557487	0.04288	T	0.002724	0.02115	T	-0.393424	0.02556	T	-0.802903	0.01831	T	0.103939465538467	0.12785	T	.	.	.	0.047795918	0.08228	0.037618708	0.03453	0.047795918	0.08227	0.037618708	0.03453	-3.217	0.12689	T	.	.	0.092	0.13503	B	.	.	-1.055815	0.00695	0.020	0.53951675314367431	0.05040	0.01208	0.04299	N	AEFBI	0.032596	0.03711	N	-1.54910637092624	0.01540	0.06726581	-1.68964110834314	0.01184	0.05327442	0.999999965671774	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.7	-8.61	0.00769	-1.143000	0.03311	-0.836000	0.07236	-0.773000	0.03420	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.279:0.1065:0.5102:0.1042	6.528	0.21510	819	0.41190	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	305.24	55	chr7	143478290	.	A	G	305.24	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-2.763;DP=337;ExcessHet=0.4139;FS=159.303;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=2.3;ReadPosRankSum=1.22;SOR=7.327	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:43,12:55:99:.:.:110,0,956:.	4	0	2	1
chr7	147132381	147132381	A	G	exonic	CNTNAP2	.	unknown	UNKNOWN	Cortical dysplasia-focal epilepsy syndrome;Pitt-Hopkins like syndrome 1	0	1515	7	0	0	7	0.00230491	.	.	.	101453	CNTNAP2-related_disorder|not_provided|not_specified|Cortical_dysplasia-focal_epilepsy_syndrome|Inborn_genetic_diseases	.|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0012400,MedGen:C2750246,OMIM:610042,Orphanet:163681,Orphanet:221150|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.118	0.00459544755955	0.0025	0.00139776	0.0009	0.0051	0.0008	0	0	0.0007	0	0.0001	0.0008538	132	154602	rs143877693	0.0006	0.0006	0.0007	0.0006	0.0070	0.0006	0.0006	0.0062	0.0059	0.0070	0.0007	0.0061	0.0006	3.744e-05	0	0.0004	0.0013	8.115e-05	0.0023	0.0023	0.0022	0.0024	0.0067	0.0021	0.0020	0.0061	0.0058	0.0067	0	0.0009	0.0063	0.0004	0	0	0.0003	0.0038	0.0004	0.548	0.06627	T	0.829	0.03728	T	0.003	0.11197	B	0.01	0.14941	B	0.032297	0.25050	N	0.348822	0.999996	0.08975	N	-0.95	0.01262	N	-1.29	0.79475	T	0.68	0.02228	N	0.24	0.27077	-0.9934	0.31722	T	0.144	0.46641	T	10	0.01616469	0.00340	T	0.004595	0.11346	T	0.118	0.32913	.	.	0.531972677126	0.52846	0.20501470567457233	0.20418	0.0774002172583	0.08706	0.233605995774	0.02245	T	0.124938	0.45031	T	-0.563756	0.00241	T	-0.579126	0.14622	T	0.000987796670502398	0.00009	T	0.718228	0.33111	T	0.03791757	0.04951	0.038157433	0.03622	0.040359326	0.05745	0.038902674	0.03862	-2.503	0.05801	T	.	.	0.056	0.00444	B	.;.	.;.	0.938628	0.13140	9.643	0.87274821820128745	0.17111	0.65813	0.32864	D	AEFI	0.099806	0.20082	N	-0.959996700708199	0.09469	0.4483113	-0.808265260525275	0.14296	0.746213	1.24215161231998E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.7	0.689	0.17197	2.033000	0.40757	2.744000	0.34485	-0.113000	0.14837	0.954000	0.33273	0.952000	0.29052	0.981000	0.58702	0.6014:0.0:0.3986:0.0	9.007	0.35279	944	0.12746	Laminin G domain|Laminin G domain|Laminin G domain;Laminin G domain|Laminin G domain|Laminin G domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	1235.44	87	chr7	147132381	.	A	G	1235.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.949;DP=284;ExcessHet=0;FS=1.763;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.2;ReadPosRankSum=0.585;SOR=0.515	GT:AD:DP:GQ:PL	0/1:35,52:87:99:1246,0,858	6	0	1	0
chr7	149103946	149103946	A	G	exonic	ZNF425	.	nonsynonymous SNV	ZNF425:NM_001001661:exon4:c.T1925C:p.M642T	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.000924084559709	0.0023	0.00199681	0.0021	0.0004	0.0012	0.0017	0.0018	0.0029	0	0.0009	0.0019922	308	154602	rs146409684	0.0027	0.0027	0.0027	0.0026	0.0031	0.0026	0.0026	0.0030	0.0030	0.0006	0.0009	7.652e-05	0.0010	0.0018	0.0016	0.0031	0.0021	0.0008	0.0015	0.0015	0.0015	0.0015	0.0025	0.0014	0.0013	0.0022	0.0020	0.0004	0	0.0015	0.0003	0.0018	0.0009	0	0.0025	0.0014	0.0008	0.267	0.16198	T	0.014	0.62352	D	0.001	0.07471	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	-0.21	0.04010	N	3.19	0.07353	T	0.51	0.02898	N	0.055	0.02658	-0.9528	0.40485	T	0.006	0.02018	T	9	0.008421868	0.00191	T	9.24E-4	0.00889	T	0.034	0.08419	.	.	0.0884992946249	0.08302	0.05061455582368372	0.05004	0.347455977516	0.36640	0.358933269978	0.19231	T	0.006529	0.05961	T	-0.614162	0.00120	T	-0.659281	0.08315	T	0.00193277582951496	0.00020	T	0.591241	0.21771	T	0.022276022	0.00879	0.04274664	0.05162	0.022276022	0.00879	0.04274664	0.05161	-2.824	0.08406	T	.	.	0.189	0.40746	B	.	.	0.086559	0.04912	1.491	0.29671929736424724	0.01585	0.02730	0.07398	N	AEFDGBI	0.056194	0.10368	N	-1.43821382122621	0.02311	0.1018953	-1.49151858782703	0.02413	0.1109514	0.0115823731583399	0.12207	0.732398	0.92422	0	0.588066	0.40923	0	0.743671	0.96076	0	0.567892	0.33627	0	.	.	3.34	-3.45	0.04479	0.009000	0.13117	-0.684000	0.07871	-0.065000	0.16512	0.000000	0.06391	0.000000	0.08366	0.112000	0.18829	0.1857:0.1085:0.2931:0.4127	1.181	0.01733	958	0.09170	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.000000	0.07143	1390.44	111	chr7	149103946	.	A	G	1390.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-4.699;DP=295;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.53;ReadPosRankSum=1.07;SOR=0.646	GT:AD:DP:GQ:PL	0/1:51,60:111:99:1401,0,1453	6	0	1	0
chr7	150948535	150948535	C	T	exonic	KCNH2	.	nonsynonymous SNV	KCNH2:NM_172057:exon7:c.G1581A:p.M527I,KCNH2:NM_000238:exon11:c.G2601A:p.M867I	Long QT syndrome 2, Autosomal dominant;Short QT syndrome 1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.687	0.624160017239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.257	0.19569	T	0.221	0.25827	T	0.444	0.35956	B	0.503	0.47728	P	0.000018	0.62929	D	0.148191	0.999455	0.50806	D	1.735	0.44892	L	-4.69	0.98487	D	-1.55	0.40274	N	0.561	0.60664	0.988	0.96994	D	0.922	0.97415	D	10	0.599457	0.66829	D	0.62416	0.96754	D	0.687	0.88585	0.316	0.29258	0.883126300403	0.88198	0.8656110223139508	0.86526	0.194290606841	0.21767	0.641322016716	0.58751	T	0.454256	0.79388	T	0.268008	0.80261	D	0.147199	0.80007	D	0.76245504617691	0.43993	D	0.851615	0.53551	D	0.32384765	0.54962	0.28557035	0.54561	0.32384765	0.54962	0.28557035	0.54560	-10.752	0.80797	D	0.18946790983123976	0.24786	0.769	0.78847	P	.;.	.;.	4.801959	0.78026	26.8	0.98661986276574531	0.44345	0.92958	0.56968	D	AEFDBCI	0.886204	0.81740	D	0.0848995445765167	0.45759	2.827105	0.164158983946246	0.47896	3.013154	0.999999999999898	0.74766	0.72623	0.87236	0	0.657636	0.61667	0	0.594344	0.31042	0	0.63947	0.58350	0	.	.	4.11	4.11	0.47350	3.437000	0.52627	7.567000	0.60617	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:1.0:0.0:0.0	14.225	0.65400	749	0.51929	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	905.44	97	chr7	150948535	.	C	T	905.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.631;DP=335;ExcessHet=0;FS=0.763;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.33;ReadPosRankSum=-0.796;SOR=0.797	GT:AD:DP:GQ:PL	0/1:54,43:97:99:916,0,1177	6	0	1	0
chr7	151181133	151181133	G	A	exonic	ASB10	.	nonsynonymous SNV	ASB10:NM_001142459:exon3:c.C910T:p.R304C,ASB10:NM_001142460:exon3:c.C910T:p.R304C,ASB10:NM_080871:exon3:c.C865T:p.R289C	Glaucoma 1, open angle, F	94	1420	8	0	0	8	0.00280899	.	.	.	105855	not_provided|Glaucoma_1,_open_angle,_F	MedGen:C3661900|MedGen:C1863926,OMIM:603383	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.225	0.0743076722227	0.0026	0.000998403	0.0028	0.0008	0.0013	0	0.0095	0.0037	0.0036	0.0003	0.0026002	402	154602	rs61735130	0.0029	0.0029	0.0029	0.0029	0.0038	0.0028	0.0028	0.0028	0.0028	0.0005	0.0017	0.0096	7.566e-05	0.0082	0.0038	0.0029	0.0030	0.0004	0.0026	0.0026	0.0025	0.0028	0.0032	0.0024	0.0023	0.0029	0.0027	0.0008	0	0.0019	0.0092	0.0002	0.0077	0.0068	0.0032	0.0019	0.0002	0.014	0.53172	D	0.027	0.55341	D	0.998	0.77913	D	0.799	0.65394	P	0.001396	0.39175	N	0.249276	0.978436	0.39461	D	0.755	0.19153	N	0.58	0.54149	T	-1.92	0.56301	N	0.469	0.52029	-0.7228	0.59324	T	0.218	0.58111	T	10	0.008752853	0.00198	T	0.074308	0.72010	D	0.225	0.52323	.	.	0.625091758369	0.62203	0.3120071742682823	0.31113	0.312190301889	0.33520	0.468261152506	0.34441	T	0.023268	0.17791	T	-0.3989	0.02354	T	-0.34882	0.39339	T	0.0234555827471462	0.01078	T	0.956004	0.83260	D	0.10019859	0.23656	0.09163117	0.21553	0.11078033	0.26183	0.099070214	0.23641	-7.875	0.60215	D	.	.	0.135	0.29228	B	.;.;.	.;.;.	5.096163	0.85121	28.5	0.99939545891364567	0.99734	0.82666	0.41862	D	AEFDBCI	0.638787	0.61708	D	0.500516202767928	0.67121	5.039544	0.521639941066314	0.69448	5.361893	0.999999624516096	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	5.29	5.29	0.74430	1.521000	0.35516	9.578000	0.81023	0.618000	0.50648	0.985000	0.35982	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.7291:0.2709	12.055	0.52827	906	0.23090	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;.;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002016	0.000000	0.002725	0.000000	0.000000	0.008621	0.006135	0.000000	0.07143	772.44	45	chr7	151181133	.	G	A	772.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.701;DP=323;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.17;ReadPosRankSum=-3.525;SOR=0.869	GT:AD:DP:GQ:PL	0/1:17,28:45:99:783,0,409	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	0/1:131,53:184:99:.:.:821,0,4382:.	1	0	6	0
chr7	158879986	158879986	C	T	exonic	DYNC2I1	.	nonsynonymous SNV	DYNC2I1:NM_001350915:exon5:c.C359T:p.P120L	.	432	1079	9	2	0	13	0.00598802	.	.	.	692196	Short-rib_thoracic_dysplasia_8_with_or_without_polydactyly	MONDO:MONDO:0014214,MedGen:C3809691,OMIM:615503,Orphanet:93271	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0.0002	0	0	9.235e-05	0	0.0015	0.000207	32	154602	rs757328480	0.0001	0.0001	7.202e-05	0.0001	0.0012	9.64e-05	9.112e-05	0.0010	0.0009	0	0.0001	0.0008	0	0	0.0004	1.812e-05	0.0003	0.0012	4.602e-05	4.598e-05	2.571e-05	6.727e-05	0.0004	2.11e-05	1.527e-05	7.31e-05	3.036e-05	2.414e-05	0	0	0.0009	0	0	0	1.47e-05	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.08333	399.27	38	chr7	158879986	.	C	T	399.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.112;DP=242;ExcessHet=0;FS=4.901;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.51;ReadPosRankSum=0.621;SOR=0.223	GT:AD:DP:GQ:PL	0/1:22,16:38:99:409,0,589	5	0	1	1
chr8	166783	166783	A	G	exonic	OR4F21	.	nonsynonymous SNV	OR4F21:NM_001005504:exon1:c.T242C:p.M81T	.	585	926	9	2	0	13	0.00697051	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.000628676177722	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs202124421	0.0002	0.0025	0.0002	0.0002	0.0018	0.0001	0.0001	0.0014	0.0012	0.0006	0.0001	0.0002	0.0018	0.0002	0	8.171e-05	0.0002	1.779e-05	0.0006	0.0019	0.0005	0.0008	0.0010	0.0004	0.0004	0.0006	0.0005	0.0010	0	0.0004	0	0.0009	0.0007	0	0.0003	0.0038	0.0009	0.031	0.45039	D	0.014	0.62352	D	0.693	0.41684	P	0.411	0.44827	B	0.000021	0.55875	D	0.000000	0.999929	0.19486	N	1.595	0.40691	L	3.36	0.05918	T	-5.48	0.85692	D	0.581	0.60241	-1.0849	0.06426	T	0.029	0.12234	T	10	0.01610899	0.00339	T	6.29E-4	0.00319	T	0.116	0.32463	.	.	0.202086224978	0.19791	0.10955451447147059	0.10884	.	.	0.790796160698	0.80564	T	0.025967	0.19311	T	-0.143541	0.29328	T	-0.443963	0.28366	T	0.267472499435865	0.23639	T	0.783822	0.42110	T	0.39735842	0.60549	0.5430023	0.73586	0.39735842	0.60550	0.5430023	0.73586	-6.397	0.49486	T	.	.	0.516	0.65301	A	.	.	2.169576	0.27649	17.53	0.98578928014600264	0.43206	0.93589	0.58631	D	AEFI	0.279019	0.39316	N	0.0856601990239782	0.45795	2.830089	-0.0133059655777993	0.39112	2.314222	0.00217768840927568	0.09210	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.96	1.96	0.25203	5.793000	0.68709	9.656000	0.81182	0.214000	0.18013	0.656000	0.28225	1.000000	0.68203	0.119000	0.19126	1.0:0.0:0.0:0.0	7.588	0.27169	994	0.00715	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	0.045455	0.000000	0.043478	0.000000	0	0.000000	0.045455	0.100000	0.1667	99.68	3	chr8	166783	.	A	G	99.68	.	AC=2;AF=0.167;AN=12;DP=121;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=42.86;QD=33.23;SOR=2.833	GT:AD:DP:GQ:PL	1/1:0,3:3:9:116,9,0	5	1	0	1
chr8	2974508	2974508	C	A	exonic	CSMD1	.	nonsynonymous SNV	CSMD1:NM_033225:exon56:c.G8683T:p.D2895Y	.	420	1094	7	1	0	9	0.0040965	.	.	.	2349987	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.159	0.0494696539654	.	.	.	.	.	.	.	.	.	.	.	.	.	rs768738523	1.3e-05	1.436e-05	4.085e-06	2.201e-05	0.0007	8.32e-06	6.7e-06	0.0002	0.0001	0	0	0	0	0	0.0007	6.297e-06	3.313e-05	6.965e-05	1.971e-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	0	0	0	0	0	0	0	2.939e-05	0.0005	0	0.029	0.68238	D	0.005	0.72224	D	0.232	0.30664	B	0.29	0.40682	B	0.595432	0.05615	N	1.221100	1	0.08975	N	.	.	.	-0.18	0.65747	T	-1.63	0.40274	N	0.317	0.38438	-0.9827	0.34375	T	0.059	0.24797	T	10	0.286025	0.46185	T	0.04947	0.63828	D	0.289	0.60808	0.669	0.80703	0.254761474806	0.25079	0.5081462967498733	0.50736	.	.	0.318448007107	0.13186	T	0.018437	0.14866	T	-0.178457	0.23967	T	-0.312589	0.43381	T	0.0782827650177267	0.09766	T	0.830817	0.49719	T	0.08101991	0.18596	0.10104582	0.24178	0.08101991	0.18595	0.10104582	0.24178	-4.416	0.29773	T	.	.	0.086	0.10594	B	.;.;.;.;.;.	.;.;.;.;.;.	1.291067	0.16917	12.85	0.80065552998624911	0.13029	0.33977	0.24958	N	AEFDHCI	0.103216	0.20685	N	-0.887177170818772	0.11147	0.5363581	-0.992097179302113	0.09962	0.4987689	8.24097530292964E-4	0.07872	0.55562	0.30534	0	0.573888	0.26702	0	0.68496	0.61776	0	0.564101	0.26826	0	.	.	5.66	-3.44	0.04493	0.245000	0.17917	-1.860000	0.04596	-0.994000	0.01837	0.885000	0.31090	0.000000	0.08366	0.000000	0.00833	0.2813:0.2617:0.2108:0.2462	0.214	0.00149	952	0.10565	Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1078.46	77	chr8	2974508	.	C	A	1078.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.933;DP=268;ExcessHet=0;FS=0.895;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.01;ReadPosRankSum=-0.763;SOR=0.614	GT:AD:DP:GQ:PL	0/1:28,49:77:99:1089,0,569	6	0	1	0
chr8	7359661	7359661	C	A	exonic	ZNF705G	.	nonsynonymous SNV	ZNF705G:NM_001164457:exon6:c.G276T:p.M92I	.	559	962	1	0	0	1	0.000519481	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.000260017541138	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1162457130	2.745e-06	7.529e-06	2.732e-06	2.759e-06	1.164e-05	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.7e-06	0	1.164e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.382	0.11120	T	0.192	0.28300	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.16	0.29674	L	3.21	0.07125	T	-1.25	0.31576	N	0.292	0.33030	-0.9508	0.40833	T	0.010	0.03492	T	7	0.10374072	0.19089	T	2.6E-4	0.00013	T	0.008	0.00669	0.352	0.35084	0.0138822411134	0.00435	0.021671821210769732	0.02119	8.85914395638E-4	0.00073	0.616853356361	0.55284	T	0.021798	0.16915	T	-0.37488	0.03354	T	-0.776266	0.02568	T	0.0310677552086176	0.02156	T	0.510449	0.16283	T	0.06866004	0.14976	0.07613186	0.16830	0.06866004	0.14976	0.07613186	0.16830	-2.877	0.08915	T	.	.	0.202	0.42592	B	.	.	-0.179249	0.03198	0.529	0.62374403696920055	0.06946	0.00137	0.00841	N	AEFI	0.020846	0.00865	N	-0.995106706711118	0.08707	0.4093233	-1.16764708493011	0.06457	0.3108578	1.15659289672568E-6	0.01202	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	0.861	-0.339	0.12019	-0.520000	0.06338	-20.000000	0.00162	0.215000	0.18024	0.068000	0.22015	0.000000	0.08366	0.039000	0.14166	0.0:0.3706:0.0:0.6294	2.766	0.04993	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	2110.44	202	chr8	7359661	.	C	A	2110.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.13;DP=434;ExcessHet=0;FS=3.546;MLEAC=1;MLEAF=0.071;MQ=52.36;MQRankSum=-9.979;QD=10.45;ReadPosRankSum=-0.87;SOR=1.006	GT:AD:DP:GQ:PL	0/1:140,62:202:99:2121,0,5579	6	0	1	0
chr8	23436976	23436976	C	G	exonic	ENTPD4	.	nonsynonymous SNV	ENTPD4:NM_001128930:exon10:c.G1308C:p.M436I,ENTPD4:NM_004901:exon10:c.G1332C:p.M444I	.	435	1086	1	0	0	1	0.000460193	.	.	.	2245899	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.214	0.00807869709529	0.0002	0.000199681	3.395e-05	0.0003	0	0.0001	0	0	0	0	3.23e-05	5	154602	rs142210988	1.165e-05	1.163e-05	1.227e-05	1.102e-05	0.0003	7.1e-06	5.8e-06	6.111e-05	2.528e-05	6.005e-05	2.253e-05	0	0	1.874e-05	0.0003	3.601e-06	0.0001	0	9.192e-05	9.186e-05	0.0001	8.056e-05	0.0003	5.523e-05	4.361e-05	0.0001	0.0001	0.0003	0	0	0	0.0002	0	0	2.94e-05	0	0	0.162	0.23541	T	0.459	0.12632	T	0.003	0.12996	B	0.01	0.14941	B	0.000000	0.84330	D	0.070413	0.999979	0.53665	D	0.76	0.19266	N	2.86	0.10482	T	-0.31	0.12099	N	0.265	0.30004	-0.9964	0.30919	T	0.022	0.09421	T	10	0.12147683	0.23029	T	0.008079	0.21418	T	0.214	0.50650	0.779	0.90388	0.243398259712	0.23965	0.8381391443499938	0.83773	0.118335029965	0.13327	0.629859685898	0.57125	T	0.006257	0.25883	T	-0.32497	0.06498	T	-0.467905	0.25742	T	0.0677768960595131	0.08336	T	0.584142	0.22366	T	0.24745442	0.47723	0.15833303	0.36980	0.24745442	0.47723	0.15833303	0.36979	-9.737	0.73093	D	.	.	0.399	0.60019	A	.;.;.;.	.;.;.;.	2.435279	0.31337	18.71	0.98611652201671696	0.43651	0.94895	0.62702	D	AEFBI	0.406246	0.47881	N	-0.189520528498247	0.33568	1.906015	0.0392119989499814	0.41555	2.498385	0.991428356656454	0.32484	0.719381	0.83141	0	0.724815	0.89359	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	5.59	5.59	0.84677	2.579000	0.45725	4.036000	0.41382	-0.172000	0.11096	1.000000	0.71638	1.000000	0.68203	0.939000	0.47918	0.0:1.0:0.0:0.0	18.144	0.89582	807	0.43470	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	721.44	84	chr8	23436976	.	C	G	721.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.398;DP=288;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.59;ReadPosRankSum=2.31;SOR=0.748	GT:AD:DP:GQ:PL	0/1:47,37:84:99:732,0,1256	6	0	1	0
chr8	27966483	27966483	G	C	exonic	SCARA5	.	nonsynonymous SNV	SCARA5:NM_173833:exon3:c.C172G:p.L58V	.	428	1089	5	0	0	5	0.00229043	.	.	.	2353403	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.454	0.115297236786	0.0002	.	0.0002	0	0	0	0	0.0003	0	6.098e-05	0.0001552	24	154602	rs371870933	0.0001	0.0001	0.0001	0.0001	0.0009	0.0001	0.0001	0.0003	0.0002	2.989e-05	0.0002	0	0	0	0.0009	0.0002	0.0002	1.16e-05	0.0001	0.0001	0.0001	0.0001	0.0002	7.091e-05	5.747e-05	0.0001	0.0001	0	0	6.541e-05	0	0	0	0	0.0002	0.0005	0	0.032	0.91255	D	0.049	0.92824	D	0.993	0.68779	D	0.967	0.76916	D	0.000307	0.45977	D	0.086312	0.828126	0.81001	D	1.78	0.46185	L	-2.63	0.92560	D	-0.85	0.30346	N	0.548	0.68255	0.734	0.93593	D	0.829	0.94267	D	10	0.37156403	0.53515	T	0.115297	0.79443	D	0.454	0.75347	.	.	0.932167581305	0.93147	0.17828296572888033	0.17747	0.893293377609	0.70316	0.617692172527	0.55403	T	0.122164	0.44564	T	-0.0676753	0.41698	T	-0.0346634	0.68059	D	0.122882987277879	0.14709	T	0.853715	0.60217	D	0.13859396	0.32047	0.13104351	0.31474	0.13859396	0.32046	0.13104351	0.31473	-6.817	0.62047	T	.	.	0.169	0.37140	B	.;.;.	.;.;.	4.171647	0.62732	24.5	0.99808274223895543	0.89264	0.83422	0.42540	D	AEFBI	0.361208	0.45090	N	0.65735608674633	0.76844	6.562284	0.641340609668063	0.77965	6.782486	0.998851717101332	0.37823	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.93	5.05	0.67566	2.596000	0.45870	5.043000	0.46929	0.676000	0.76740	0.996000	0.39380	1.000000	0.68203	0.991000	0.66497	0.0848:0.0:0.9152:0.0	11.405	0.49136	756	0.51065	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001512	0.000000	0.000000	0.000000	0.000000	0.025862	0.000000	0.000000	0.07143	317.63	40	chr8	27966483	.	G	C	317.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.476;DP=204;ExcessHet=0;FS=4.756;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.94;ReadPosRankSum=1.23;SOR=0.669	GT:AD:DP:GQ:PL	0/1:24,16:40:99:328,0,575	6	0	1	0
chr8	28029334	28029334	G	A	exonic	NUGGC	.	nonsynonymous SNV	NUGGC:NM_001010906:exon17:c.C2086T:p.R696W	.	415	1094	13	0	0	13	0.00590641	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	.	0.0008	0.00279553	0.0027	0.0005	0.0054	0	0.0029	0.0015	0.0096	0.0084	0.0020828	322	154602	rs200971147	0.0015	0.0015	0.0013	0.0017	0.0081	0.0015	0.0015	0.0076	0.0074	0.0001	0.0033	0.0009	2.526e-05	0.0032	0.0059	0.0010	0.0016	0.0081	0.0015	0.0015	0.0014	0.0016	0.0084	0.0013	0.0013	0.0063	0.0056	0.0001	0	0.0021	0.0035	0	0.0038	0	0.0014	0.0014	0.0084	0.017	0.51248	D	0.0	0.92824	D	0.998	0.73220	D	0.609	0.51053	P	0.083098	0.20772	N	0.476548	0.530492	0.31495	N	2.19	0.61577	M	2.35	0.16217	T	-2.86	0.60188	D	0.49	0.52386	-1.0457	0.15621	T	0.040	0.17191	T	10	0.0072264373	0.00164	T	.	.	.	0.112	0.31546	.	.	0.59589940523	0.59269	0.236100240792046	0.23525	0.366078253809	0.38189	0.307676851749	0.11556	T	0.070758	0.34041	T	-0.45371	0.01074	T	-0.419654	0.31115	T	0.0311100688441246	0.02164	T	0.511749	0.16382	T	0.07774786	0.17664	0.09231025	0.21749	0.07774786	0.17664	0.09231025	0.21748	-6.549	0.50663	T	.	.	0.116	0.23325	B	.	.	4.735803	0.76327	26.5	0.99921708139172249	0.98787	0.55350	0.29842	D	AEFDBI	0.459069	0.50983	N	0.281884511151786	0.55230	3.687214	0.298831216429642	0.55472	3.710143	0.50181484471757	0.20949	0.623552	0.39893	0	0.659912	0.62753	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.56	3.53	0.39533	2.535000	0.45343	4.778000	0.44817	0.676000	0.76740	0.820000	0.29989	1.000000	0.68203	0.993000	0.69303	0.0:0.1587:0.593:0.2483	7.050	0.24244	785	0.46916	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.005435	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	830.45	49	chr8	28029334	.	G	A	830.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.349;DP=223;ExcessHet=0;FS=1.191;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.95;ReadPosRankSum=-2.091;SOR=0.452	GT:AD:DP:GQ:PL	0/1:16,33:49:99:841,0,329	6	0	1	0
chr8	33592032	33592032	C	T	exonic	DUSP26	.	nonsynonymous SNV	DUSP26:NM_001305116:exon3:c.G617A:p.R206Q,DUSP26:NM_001305115:exon4:c.G617A:p.R206Q,DUSP26:NM_024025:exon4:c.G617A:p.R206Q	.	423	1079	20	0	0	20	0.00918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.173	.	0.0042	0.00299521	0.0078	0.0008	0.0237	0.0017	0.0083	0.0064	0.0111	0.0096	0.007128	1102	154602	rs144929688	0.0064	0.0064	0.0062	0.0065	0.0187	0.0062	0.0062	0.0176	0.0172	0.0007	0.0187	0.0018	0.0015	0.0094	0.0044	0.0059	0.0052	0.0105	0.0058	0.0058	0.0050	0.0066	0.0140	0.0055	0.0053	0.0125	0.0119	0.0014	0.0143	0.0140	0.0020	0.0037	0.0085	0.0102	0.0063	0.0028	0.0085	0.245	0.17410	T	0.524	0.10317	T	0.995	0.67487	D	0.846	0.60472	P	0.009268	0.30438	N	0.302728	0.998217	0.44638	D	0.415	0.12483	N	0.16	0.60610	T	-0.91	0.24460	N	0.411	0.45142	-0.9003	0.47962	T	0.132	0.44445	T	10	0.0071424246	0.00162	T	.	.	.	0.173	0.43840	.	.	0.852236254791	0.85081	0.7260099008780219	0.72544	0.565652636351	0.52896	0.457296043634	0.32940	T	0.034618	0.23393	T	-0.330154	0.06101	T	-0.230763	0.51698	T	0.014204565970665	0.00280	T	0.758824	0.38273	T	0.42837644	0.62646	0.23189811	0.48335	0.42837644	0.62646	0.23189811	0.48334	-5.738	0.44031	T	.	.	0.112	0.25034	B	.;.	.;.	3.952577	0.57911	23.9	0.99655955644390981	0.77631	0.96912	0.71619	D	AEFDBCI	0.928929	0.91391	D	0.444090876967139	0.63867	4.629105	0.473415853926189	0.66234	4.925591	0.994686813683884	0.33752	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	4.8	4.8	0.61157	5.223000	0.65114	5.993000	0.52362	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:1.0:0.0:0.0	16.002	0.80097	830	0.39242	Dual specificity protein phosphatase domain;Dual specificity protein phosphatase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005539	0.000000	0.006793	0.002924	0.000000	0.000000	0.006098	0.011364	0.07143	554.46	48	chr8	33592032	.	C	T	554.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.51;DP=224;ExcessHet=0;FS=6.502;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.55;ReadPosRankSum=-1.882;SOR=1.84	GT:AD:DP:GQ:PL	0/1:27,21:48:99:565,0,621	6	0	1	0
chr8	38428395	38428395	-	TCA	exonic	FGFR1	.	nonframeshift insertion	FGFR1:NM_001174066:exon3:c.131_132insTGA:p.D44_S45insD,FGFR1:NM_001354368:exon3:c.131_132insTGA:p.D44_S45insD,FGFR1:NM_001354370:exon3:c.131_132insTGA:p.D44_S45insD,FGFR1:NM_023105:exon3:c.131_132insTGA:p.D44_S45insD,FGFR1:NM_023106:exon3:c.131_132insTGA:p.D44_S45insD,FGFR1:NM_001174063:exon4:c.398_399insTGA:p.D133_S134insD,FGFR1:NM_001174065:exon4:c.398_399insTGA:p.D133_S134insD,FGFR1:NM_001354367:exon4:c.398_399insTGA:p.D133_S134insD,FGFR1:NM_001354369:exon4:c.398_399insTGA:p.D133_S134insD,FGFR1:NM_015850:exon4:c.398_399insTGA:p.D133_S134insD,FGFR1:NM_023110:exon4:c.398_399insTGA:p.D133_S134insD,FGFR1:NM_001174064:exon5:c.374_375insTGA:p.D125_S126insD,FGFR1:NM_001174067:exon5:c.497_498insTGA:p.D166_S167insD	Encephalocraniocutaneous lipomatosis, Somatic mosaicism;Hartsfield syndrome, Autosomal dominant;Hypogonadotropic hypogonadism 2 with or without anosmia, Autosomal dominant;Jackson-Weiss syndrome, Autosomal dominant;Osteoglophonic dysplasia, Autosomal dominant;Pfeiffer syndrome, Autosomal dominant;Trigonocephaly 1, Autosomal dominant	0	224	1	1	0	3	0.00665188	.	.	.	438386	Hypogonadotropic_hypogonadism_2_with_or_without_anosmia|Pfeiffer_syndrome|Mendelian_syndromes_with_cleft_lip/palate|not_provided	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950,Orphanet:478|MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600,Orphanet:710|MedGen:C5680616,Orphanet:139039|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	0.0002	0	0	0.0003	0	0.0005	0.0001153	3	26028	rs776622310	0.0001	0.0002	0.0001	0.0002	0.0003	0.0001	0.0001	0.0003	0.0002	8.964e-05	0.0002	0	2.52e-05	7.489e-05	0.0002	0.0001	0.0001	0.0003	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	0.0001	0.0002	0.0002	9.623e-05	0	0.0001	0	0	0	0	0.0003	0.0009	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	596.23	23	chr8	38428395	.	G	GTCA	596.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.946;DP=184;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=25.92;ReadPosRankSum=0.841;SOR=0.818	GT:AD:DP:GQ:PL	0/1:8,15:23:99:606,0,287	5	0	1	1
chr8	47440392	47440392	T	A	exonic	SPIDR	.	nonsynonymous SNV	SPIDR:NM_001352945:exon4:c.T221A:p.M74K,SPIDR:NM_001352941:exon5:c.T431A:p.M144K,SPIDR:NM_001352944:exon5:c.T431A:p.M144K,SPIDR:NM_001352953:exon5:c.T14A:p.M5K,SPIDR:NM_001352956:exon5:c.T14A:p.M5K,SPIDR:NM_001352939:exon6:c.T455A:p.M152K,SPIDR:NM_001352942:exon6:c.T290A:p.M97K,SPIDR:NM_001352952:exon6:c.T14A:p.M5K,SPIDR:NM_001352955:exon6:c.T14A:p.M5K,SPIDR:NM_001352957:exon6:c.T14A:p.M5K,SPIDR:NM_001282916:exon7:c.T737A:p.M246K,SPIDR:NM_001352935:exon7:c.T737A:p.M246K,SPIDR:NM_001352936:exon7:c.T737A:p.M246K,SPIDR:NM_001352938:exon7:c.T455A:p.M152K,SPIDR:NM_001352940:exon7:c.T455A:p.M152K,SPIDR:NM_001352943:exon7:c.T455A:p.M152K,SPIDR:NM_001352946:exon7:c.T197A:p.M66K,SPIDR:NM_001352948:exon7:c.T197A:p.M66K,SPIDR:NM_001352950:exon7:c.T455A:p.M152K,SPIDR:NM_001352951:exon7:c.T197A:p.M66K,SPIDR:NM_001080394:exon8:c.T947A:p.M316K,SPIDR:NM_001282919:exon8:c.T767A:p.M256K,SPIDR:NM_001352931:exon8:c.T947A:p.M316K,SPIDR:NM_001352932:exon8:c.T827A:p.M276K,SPIDR:NM_001352933:exon8:c.T767A:p.M256K,SPIDR:NM_001352934:exon8:c.T947A:p.M316K,SPIDR:NM_001352937:exon8:c.T767A:p.M256K,SPIDR:NM_001352947:exon8:c.T197A:p.M66K,SPIDR:NM_001352961:exon8:c.T947A:p.M316K,SPIDR:NM_001352949:exon9:c.T290A:p.M97K	.	427	1093	2	0	0	2	0.000914077	.	.	.	711551	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.131	0.00408169897264	0.0030	0.000599042	0.0024	0.0003	0.0017	0	0.0003	0.0035	0.0033	0.0015	0.0025291	391	154602	rs201125764	0.0037	0.0037	0.0037	0.0037	0.0044	0.0036	0.0036	0.0043	0.0042	0.0006	0.0021	0.0034	0	0.0002	0.0029	0.0044	0.0037	0.0016	0.0027	0.0027	0.0031	0.0022	0.0046	0.0025	0.0024	0.0042	0.0041	0.0005	0.0033	0.0024	0.0026	0	9.413e-05	0	0.0046	0.0047	0.0019	0.753	0.49117	T	0.073	0.56640	T	0.589	0.39027	P	0.142	0.33681	B	0.817273	0.09206	N	0.922560	0.995334	0.23316	N	1.01	0.25309	L	.	.	.	-2.12	0.62976	N	0.551	0.62696	-1.0497	0.14481	T	0.051	0.21689	T	9	0.009545952	0.00215	T	0.004082	0.09744	T	0.131	0.35738	.	.	0.0297737177859	0.01360	0.4801162512170496	0.47931	0.0936337207164	0.10573	.	.	.	0.040109	0.40155	T	-0.332179	0.05948	T	-0.249388	0.49878	T	0.014863578150471	0.00314	T	0.764224	0.39120	T	0.24582146	0.47544	0.19559357	0.43244	0.24582146	0.47544	0.19559357	0.43243	-11.563	0.82658	D	.	.	0.185	0.41888	B	.;.;.;.	.;.;.;.	2.094403	0.26643	17.19	0.92998129411742081	0.22586	0.51761	0.28971	D	AEFGBCI	0.058647	0.11018	N	-0.395647200648025	0.25624	1.392326	-0.323757267223649	0.27334	1.515969	0.999999975027504	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.659464	0.59346	0	0.727631	0.95156	0	.	.	5.7	3.33	0.37245	0.924000	0.28378	0.490000	0.18893	0.665000	0.62972	0.988000	0.36536	0.050000	0.21810	0.874000	0.41677	0.1335:0.1444:0.0:0.722	5.069	0.13933	645	0.63593	Domain of unknown function DUF4502;.;.;Domain of unknown function DUF4502	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002518	0.005051	0.001359	0.000000	0.050000	0.000000	0.003049	0.003788	0.1429	2203.23	74	chr8	47440392	.	T	A	2203.23	.	AC=2;AF=0.143;AN=14;DP=252;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=29.77;SOR=1.209	GT:AD:DP:GQ:PL	1/1:0,74:74:99:2224,221,0	6	1	0	0
chr8	54459709	54459709	A	G	exonic	SOX17	.	nonsynonymous SNV	SOX17:NM_022454:exon2:c.A959G:p.Q320R	Vesicoureteral reflux 3, Autosomal dominant	0	1518	2	0	2	4	0.000658328	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.110	0.0193181855625	.	.	7.156e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs757952976	2.867e-06	3.421e-06	1.417e-06	4.352e-06	2.783e-05	6.7e-07	4.5e-07	.	.	0	0	0	2.783e-05	0	0	9.236e-07	1.718e-05	1.246e-05	6.571e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.598	0.05668	T	0.56	0.09113	T	0.246	0.31102	B	0.036	0.22909	B	.	.	.	.	1	0.08975	N	0.69	0.16971	N	-1.07	0.76948	T	-0.01	0.07155	N	0.196	0.21580	-0.9873	0.33273	T	0.169	0.50987	T	9	0.08896625	0.15367	T	0.019318	0.41651	T	0.110	0.31079	0.236	0.16608	0.730879104249	0.72848	0.1616537117496091	0.16086	0.878080247472	0.69652	0.702015340328	0.67436	T	0.279673	0.65235	T	-0.214783	0.18711	T	-0.423753	0.30645	T	0.0506441746871141	0.05612	T	0.326967	0.06756	T	0.033716563	0.03645	0.06686196	0.13754	0.033716563	0.03644	0.06686196	0.13754	-9.881	0.73196	D	0.2453546888869637	0.33232	0.119	0.24464	B	.	.	0.671043	0.10395	7.119	0.51279390940111014	0.04534	0.19431	0.20658	N	AEFDBHCI	0.191456	0.31865	N	-1.21901212010154	0.04724	0.2138397	-1.2783145362374	0.04724	0.2235228	0.999999990506155	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.606814	0.37721	0	0.372554	0.06265	0	.	.	2.1	0.65	0.16984	0.094000	0.14946	-0.377000	0.09567	0.582000	0.30178	0.018000	0.19461	0.016000	0.20520	0.072000	0.16771	0.4422:0.5577:0.0:0.0	7.521	0.26795	905	0.23532	Sox, 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	675.83	57	chr8	54459709	.	A	G	675.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.564;DP=244;ExcessHet=0;FS=3.642;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.86;ReadPosRankSum=-2.565;SOR=1.214	GT:AD:DP:GQ:PL	0/1:26,31:57:99:686,0,602	6	0	1	0
chr8	54673895	54673895	A	G	exonic	RP1	.	nonsynonymous SNV	RP1:NM_001375654:exon8:c.A1369G:p.K457E	Retinitis pigmentosa 1, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.1502	0.78911	T	0.383	0.73884	T	6	0.3501361	0.51892	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.814119	0.49240	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.256	0.61470	B	.;.	.;.	3.812974	0.55007	23.6	0.87984247386889181	0.17629	0.95798	0.66199	D	AEFI	.	.	.	0.430700037268489	0.63118	4.539489	0.431472930900115	0.63536	4.589264	0.414610556013325	0.20241	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.820481	0.48968	5.18	5.18	0.71140	4.924000	0.63118	5.690000	0.49333	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	1.0:0.0:0.0:0.0	15.043	0.71471	790	0.46189	PLAT/LH2 domain|PLAT/LH2 domain|PLAT/LH2 domain;PLAT/LH2 domain|PLAT/LH2 domain|PLAT/LH2 domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	38.8	2	chr8	54673895	.	A	G	38.8	.	AC=2;AF=0.25;AN=8;DP=6;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.25;MQ=60;QD=19.4;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	3	1	0	3
chr8	56441673	56441673	G	A	exonic	PENK	.	nonsynonymous SNV	PENK:NM_001135690:exon4:c.C403T:p.R135W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.262	0.0576754574186	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1175793969	6.841e-06	6.84e-06	5.445e-06	8.251e-06	5.038e-05	3.46e-06	2.52e-06	1.583e-05	9.3e-06	0	0	0	5.038e-05	0	0	3.597e-06	0	4.638e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.975	0.73362	D	0.000530	0.43581	D	0.242516	0.553253	0.32151	D	3.52	0.92970	H	2.15	0.19311	T	-5.51	0.85921	D	0.756	0.76296	-0.6963	0.60614	T	0.145	0.46841	T	10	0.88327813	0.87645	D	0.057675	0.67049	D	0.262	0.57482	0.423	0.46693	0.56874858234	0.56539	0.5705508411031116	0.56983	0.259186231862	0.28475	0.554550766945	0.46499	T	0.809845	0.95236	D	0.119767	0.66347	D	0.0311143	0.72351	D	0.994649946689606	0.86061	D	0.962554	0.86020	D	0.37248343	0.58768	0.38937524	0.63759	0.37248343	0.58769	0.38937524	0.63759	-15.039	0.95943	D	.	.	0.472	0.64435	A	.;.	.;.	4.399047	0.67958	25.2	0.99909757421241518	0.97949	0.76014	0.37250	D	AEFDHCI	0.711439	0.66488	D	0.421561235836474	0.62608	4.479633	0.311236313862859	0.56200	3.782947	0.00323595295257479	0.10007	0.653496	0.48692	0	0.61073	0.52368	0	0.596874	0.31795	0	0.542086	0.14980	0	.	.	5.98	0.577	0.16569	1.259000	0.32559	1.131000	0.24326	0.676000	0.76740	0.996000	0.39380	1.000000	0.68203	0.913000	0.44837	0.0:0.0:0.5671:0.4329	14.982	0.70970	749	0.51929	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	2225.44	190	chr8	56441673	.	G	A	2225.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.354;DP=395;ExcessHet=0;FS=1.116;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.71;ReadPosRankSum=1.65;SOR=0.65	GT:AD:DP:GQ:PL	0/1:89,101:190:99:2236,0,1954	6	0	1	0
chr8	86427792	86427792	A	T	exonic	WWP1	.	nonsynonymous SNV	WWP1:NM_007013:exon11:c.A1307T:p.Q436L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.368	0.0696563929859	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.014	0.62352	D	0.996	0.68779	D	0.937	0.67262	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.39	0.68882	M	0.73	0.50721	T	-5.9	0.88839	D	0.582	0.60325	-0.4719	0.69658	T	0.285	0.65665	T	10	0.515165	0.62324	D	0.069656	0.70788	D	0.368	0.68757	0.459	0.52590	0.171220215726	0.16700	0.5273484206399934	0.52658	1.9606362905	0.93449	0.747439026833	0.74069	T	0.404002	0.76059	T	0.011955	0.53292	T	-0.220604	0.52679	T	0.997088491916656	0.90733	D	0.853415	0.53896	D	0.80757153	0.84394	0.6435708	0.79168	0.80757153	0.84395	0.6435708	0.79169	-15.343	0.96605	D	.	.	0.212	0.45174	B	.;.	.;.	5.085006	0.84888	28.4	0.99627557272743605	0.75837	0.96242	0.68190	D	AEFBI	0.816448	0.73817	D	0.72004506462786	0.80945	7.408516	0.692177594439059	0.81785	7.608428	0.994841231585899	0.33827	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.2	5.2	0.71720	7.313000	0.78289	11.167000	0.87842	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.061	0.71622	652	0.62785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	919.44	76	chr8	86427792	.	A	T	919.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.117;DP=307;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.1;ReadPosRankSum=0.61;SOR=0.64	GT:AD:DP:GQ:PL	0/1:35,41:76:99:930,0,762	6	0	1	0
chr8	106684246	106684246	G	A	exonic	OXR1	.	nonsynonymous SNV	OXR1:NM_181354:exon4:c.G391A:p.V131I,OXR1:NM_001198532:exon5:c.G415A:p.V139I,OXR1:NM_001198533:exon6:c.G412A:p.V138I,OXR1:NM_018002:exon6:c.G412A:p.V138I	.	0	225	1	0	0	1	0.00221729	0.9985	0.758	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	0.00507319851748	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.426e-07	2.055e-06	0	1.478e-06	9.909e-07	0	0	.	.	0	0	0	0	0	0	9.909e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.211	0.22573	T	0.358	0.17696	T	0.033	0.35444	B	0.058	0.37394	B	0.000017	0.62929	D	0.069035	0.999177	0.81001	D	0.65	0.16133	N	0.85	0.47130	T	-0.24	0.14390	N	0.1	0.08227	-1.0421	0.16681	T	0.090	0.34546	T	9	0.3972751	0.55316	T	0.005073	0.12846	T	0.113	0.31778	0.593	0.72247	0.562844193612	0.55947	0.17618467320770606	0.17537	0.11953327444	0.13463	0.470785796642	0.34788	T	0.040135	0.25426	T	-0.0890489	0.38234	T	-0.365689	0.37391	T	0.576501786708832	0.35483	D	0.941106	0.78488	D	0.021742536	0.00794	0.044028085	0.05613	0.021742536	0.00794	0.044028085	0.05613	-7.509	0.58499	D	.	.	0.085	0.11124	B	.;.;.;.;.;.	.;.;.;.;.;.	4.050378	0.60035	24.2	0.99642620156945583	0.76756	0.95467	0.64837	D	AEFGBI	0.653414	0.62646	D	0.187192250573264	0.50584	3.247002	0.370227114768071	0.59735	4.153929	0.999006575544784	0.38186	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.75	5.75	0.90390	6.114000	0.71248	11.737000	0.95113	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.1147:0.1676:0.7177:0.0	6.999	0.23980	845	0.36510	.;.;LysM domain|LysM domain|LysM domain|LysM domain;LysM domain|LysM domain|LysM domain|LysM 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	592.45	60	chr8	106684246	.	G	A	592.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.23;DP=235;ExcessHet=0;FS=3.877;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.87;ReadPosRankSum=-0.068;SOR=1.255	GT:AD:DP:GQ:PL	0/1:36,24:60:99:603,0,862	6	0	1	0
chr8	109440737	109440737	T	A	exonic	PKHD1L1	.	stopgain	PKHD1L1:NM_177531:exon33:c.T3984A:p.Y1328X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1350448035	4.11e-06	4.104e-06	4.089e-06	4.131e-06	2.525e-05	1.48e-06	9.7e-07	1.32e-06	9.6e-07	0	0	0	2.525e-05	0	0	4.502e-06	0	0	6.575e-06	6.567e-06	0	1.346e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000001	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.198	0.21839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58478	0.97200	D	0.60222	0.97155	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	6.527648	0.95354	34	0.99383810010875417	0.62024	0.74292	0.36342	D	AEFGI	0.174437	0.30156	N	0.369230992355125	0.59763	4.158371	0.164540371366805	0.47917	3.014894	0.172169224159337	0.17752	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	6.17	3.65	0.40985	0.358000	0.19952	0.626000	0.20179	0.665000	0.62972	0.987000	0.36337	0.938000	0.28711	0.849000	0.40138	0.0:0.2101:0.0:0.7899	7.562	0.27023	683	0.59664	.	.	.	.	.	.	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	114.63	35	chr8	109440737	.	T	A	114.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.366;DP=205;ExcessHet=0;FS=1.547;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=3.28;ReadPosRankSum=-0.452;SOR=1.085	GT:AD:DP:GQ:PL	0/1:27,8:35:99:125,0,644	6	0	1	0
chr8	112265476	112265476	T	A	exonic	CSMD3	.	nonsynonymous SNV	CSMD3:NM_001363185:exon56:c.A9023T:p.N3008I,CSMD3:NM_052900:exon58:c.A9116T:p.N3039I,CSMD3:NM_198123:exon60:c.A9623T:p.N3208I,CSMD3:NM_198124:exon61:c.A9503T:p.N3168I	.	425	1038	57	2	0	61	0.0285447	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	.	0.0030	0.00419329	0.0046	0.0007	0.0016	0	0.0006	0.0050	0.0088	0.0118	0.0044437	687	154602	rs61759499	0.0045	0.0045	0.0042	0.0049	0.0248	0.0044	0.0044	0.0215	0.0202	0.0011	0.0023	0.0094	0.0002	0.0004	0.0248	0.0042	0.0053	0.0122	0.0034	0.0034	0.0037	0.0031	0.0102	0.0032	0.0031	0.0079	0.0071	0.0008	0	0.0020	0.0130	0	0.0003	0.0238	0.0050	0.0052	0.0102	0.259	0.20456	T	0.225	0.25827	T	0.02	0.49385	B	0.018	0.55692	B	0.000977	0.40836	D	0.211612	0.999992	0.58761	D	-1.115	0.00953	N	-0.14	0.65006	T	-3.09	0.63438	D	0.856	0.85238	-0.8346	0.53002	T	0.163	0.49864	T	10	0.0080629885	0.00183	T	.	.	.	0.097	0.27909	.	.	0.255117706274	0.25116	0.2820143294223687	0.28114	0.567525139074	0.53010	0.424648225307	0.28476	T	0.043682	0.26579	T	-0.441398	0.01269	T	-0.395783	0.33875	T	0.0381416662886477	0.03357	T	0.631037	0.32360	T	0.29920405	0.52834	0.23564972	0.48815	0.29920405	0.52833	0.23564972	0.48814	-7.349	0.58611	T	.	.	0.138	0.30022	B	.;.;.;.	.;.;.;.	3.411280	0.47324	22.4	0.97637824020420805	0.35063	0.96486	0.69378	D	AEFGI	0.713844	0.66651	D	0.13987230302269	0.48332	3.046874	0.270081304787182	0.53799	3.547272	0.998598772479356	0.37268	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.44	5.44	0.79348	2.710000	0.46837	5.043000	0.46929	0.609000	0.47794	0.972000	0.34453	1.000000	0.68203	0.887000	0.42601	0.0:0.0:0.0:1.0	15.778	0.78007	865	0.32612	.;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.025706	0.010101	0.035326	0.023392	0.000000	0.034483	0.021472	0.011364	0.07143	1184.49	95	chr8	112265476	.	T	A	1184.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.466;DP=271;ExcessHet=0;FS=2.765;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.47;ReadPosRankSum=-2.225;SOR=0.432	GT:AD:DP:GQ:PL	0/1:41,54:95:99:1195,0,933	6	0	1	0
chr8	117146976	117146976	G	A	exonic	SLC30A8	.	nonsynonymous SNV	SLC30A8:NM_173851:exon2:c.G94A:p.V32M	.	417	1104	1	0	0	1	0.000452694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.0370692726648	.	.	3.303e-05	0	0	0	0	1.501e-05	0.0011	0.0001	2.59e-05	4	154602	rs757655293	1.573e-05	1.573e-05	1.089e-05	2.063e-05	0.0002	1.048e-05	8.75e-06	8.886e-05	7.054e-05	0	0	0	0	0	0	8.993e-06	0	0.0002	6.569e-06	6.562e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.134	0.26300	T	0.226	0.25438	T	0.274	0.31856	B	0.071	0.27960	B	0.208985	0.03373	N	1.611180	1	0.08975	N	0.895	0.22405	L	-0.1	0.64264	T	-0.01	0.07155	N	0.191	0.20925	-0.9777	0.35526	T	0.140	0.45922	T	10	0.082049996	0.13500	T	0.037069	0.57386	D	0.045	0.12272	0.197	0.10975	0.253726318573	0.24972	0.13040017001168308	0.12965	0.0542703918584	0.05997	0.279448986053	0.07416	T	0.107648	0.42002	T	-0.369389	0.03625	T	-0.58685	0.13941	T	0.0382914617657661	0.03384	T	0.675932	0.28448	T	0.030562809	0.02742	0.044182133	0.05666	0.030562809	0.02742	0.044182133	0.05665	-4.808	0.34685	T	.	.	0.080	0.07889	B	.	.	0.399501	0.07708	4.384	0.94421057269766229	0.24828	0.08512	0.14431	N	AEFDGBI	0.155383	0.28057	N	-0.828764318975001	0.12579	0.6140083	-0.851271100430146	0.13257	0.6867243	4.97774587603419E-5	0.03989	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.65	0.358	0.15319	-0.034000	0.12176	-0.119000	0.11742	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.375000	0.26223	0.0:0.211:0.5481:0.2409	8.253	0.30897	956	0.09877	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1863.45	176	chr8	117146976	.	G	A	1863.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.951;DP=351;ExcessHet=0;FS=0.559;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.59;ReadPosRankSum=1.52;SOR=0.663	GT:AD:DP:GQ:PL	0/1:99,77:176:99:1874,0,2461	6	0	1	0
chr8	119846995	119846995	A	C	exonic	DSCC1	.	nonsynonymous SNV	DSCC1:NM_024094:exon4:c.T572G:p.I191S	.	448	1071	3	0	0	3	0.0013986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.520	0.0670795510791	0.0035	0.000998403	0.0036	0.0004	0.0036	0	0.0006	0.0055	0.0055	0.0005	0.0036869	570	154602	rs61753750	0.0041	0.0041	0.0042	0.0041	0.0051	0.0041	0.0040	0.0049	0.0049	0.0006	0.0030	0.0009	0	0.0006	0.0030	0.0051	0.0027	0.0005	0.0026	0.0026	0.0029	0.0022	0.0041	0.0024	0.0023	0.0037	0.0036	0.0008	0	0.0033	0.0009	0	0.0007	0.0034	0.0041	0.0080	0.0006	0.001	0.78490	D	0.001	0.83351	D	0.999	0.77913	D	0.984	0.76113	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.105	0.87672	M	0.55	0.54728	T	-5.1	0.83027	D	0.959	0.96871	-0.3389	0.73876	T	0.294	0.66602	T	10	0.0528602	0.05385	T	0.06708	0.70063	D	0.520	0.79583	.	.	0.74231337688	0.74000	0.9072185091075976	0.90694	1.015795043	0.74944	0.563850402832	0.47810	T	0.357688	0.72436	T	-0.00440514	0.51045	T	0.227435	0.84544	D	0.0652603585097393	0.07970	T	0.913209	0.69058	D	0.7840102	0.82901	0.68510467	0.81486	0.7840102	0.82903	0.68510467	0.81487	-11.421	0.81916	D	.	.	0.244	0.47805	B	.	.	4.247511	0.64452	24.7	0.99224553770171542	0.56026	0.98014	0.78880	D	AEFBI	0.665161	0.63408	D	0.661381521618492	0.77107	6.611514	0.579610829695313	0.73481	5.977297	0.998771411024771	0.37645	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.655142	0.61905	0	.	.	5.21	5.21	0.72005	5.922000	0.69759	11.056000	0.85368	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.827000	0.38976	1.0:0.0:0.0:0.0	13.655	0.61810	830	0.39242	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.005051	0.006793	0.000000	0.000000	0.000000	0.006098	0.000000	0.07143	1145.46	77	chr8	119846995	.	A	C	1145.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.908;DP=256;ExcessHet=0;FS=0.892;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.88;ReadPosRankSum=0.32;SOR=0.571	GT:AD:DP:GQ:PL	0/1:27,50:77:99:1156,0,487	6	0	1	0
chr8	143441057	143441057	C	T	exonic	ZC3H3	.	nonsynonymous SNV	ZC3H3:NM_015117:exon10:c.G2371A:p.A791T	.	409	1112	1	0	0	1	0.000449438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.0240111666821	.	.	0.0001	0	0.0003	0	0	0.0002	0	0	3.23e-05	5	154602	rs761410773	1.207e-05	3.215e-05	1.042e-05	1.377e-05	0.0002	7.15e-06	5.78e-06	4.295e-05	2.261e-05	0	0.0002	0	0	0	0	7.568e-06	1.829e-05	5.955e-05	8.541e-05	8.536e-05	5.138e-05	0.0001	0.0007	4.956e-05	3.962e-05	0.0004	0.0003	2.412e-05	0	0.0007	0	0	0	0	1.47e-05	0	0	0.076	0.34269	T	0.333	0.18395	T	0.001	0.07471	B	0.003	0.08700	B	0.989449	0.07892	N	1.005240	1	0.08975	N	1.2	0.30300	L	0.81	0.48460	T	-0.45	0.14782	N	0.193	0.21188	-1.0145	0.25497	T	0.068	0.27845	T	10	0.024084985	0.00650	T	0.024011	0.46991	T	0.038	0.09825	0.128	0.03331	0.043077524339	0.03247	0.3590260854515273	0.35816	.	.	0.474439650774	0.35292	T	0.00648	0.05912	T	-0.320777	0.06834	T	-0.698551	0.05905	T	0.0386111212681781	0.03441	T	0.616838	0.23625	T	0.04214565	0.06338	0.05176253	0.08396	0.04214565	0.06338	0.05176253	0.08396	-5.94	0.45775	T	.	.	0.064	0.01762	B	.	.	0.692177	0.10608	7.312	0.93224437275027361	0.22903	0.05847	0.11790	N	AEFBI	0.078006	0.15727	N	-1.45284975965938	0.02194	0.09662523	-1.52980806950669	0.02118	0.09692953	0.992817354199205	0.32978	0.67177	0.52595	0	0.702456	0.74545	0	0.570548	0.19454	0	0.683762	0.67416	0	.	.	4.76	-5.72	0.02211	-1.132000	0.03346	.	.	-0.850000	0.02721	0.000000	0.06391	0.000000	0.08366	0.085000	0.17524	0.1931:0.3913:0.095:0.3205	1.760	0.02810	976	0.04745	Zinc finger, CCCH-type|Zinc finger, CCCH-type|Zinc finger, CCCH-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	539.27	59	chr8	143441057	.	C	T	539.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.628;DP=240;ExcessHet=0;FS=0.985;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.14;ReadPosRankSum=1.68;SOR=0.555	GT:AD:DP:GQ:PL	0/1:34,25:59:99:549,0,825	5	0	1	1
chr9	12775846	12775846	G	T	exonic	LURAP1L	.	nonsynonymous SNV	LURAP1L:NM_203403:exon1:c.G131T:p.G44V	.	330	1191	1	0	0	1	0.000419639	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.011572766489	.	.	2.61e-05	0	0	0	0	2.478e-05	0.0017	0	1.94e-05	3	154602	rs780163680	5.732e-05	5.814e-05	5.899e-05	5.561e-05	0.0002	4.72e-05	4.342e-05	5.278e-05	4.85e-05	3.018e-05	2.383e-05	0	2.549e-05	0	0.0002	6.512e-05	5.018e-05	4.691e-05	2.934e-05	2.645e-05	2.846e-05	3.029e-05	4.785e-05	9.86e-06	5.62e-06	1.27e-05	6.52e-06	2.724e-05	0	0	0	0	0	0	4.785e-05	0	0	0.019	0.50132	D	0.031	0.53788	D	.	.	.	.	.	.	0.473093	0.04937	N	1.334730	0.983739	0.40052	D	.	.	.	0.93	0.44065	T	-0.64	0.18670	N	0.227	0.25499	-0.9622	0.38761	T	0.074	0.29865	T	10	0.1415219	0.26890	T	0.011573	0.29327	T	0.051	0.14325	.	.	0.376039117802	0.37211	0.22989552219115447	0.22904	0.0355889908845	0.03753	0.529320776463	0.42938	T	.	.	.	-0.256198	0.13349	T	-0.469876	0.25529	T	0.13212089240551	0.15576	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.22897	B	.	.	1.595122	0.20400	14.73	0.99074976819712957	0.51810	0.76245	0.37379	D	ALL	0.210593	0.33647	N	-0.377152442169493	0.26286	1.433376	-0.249143728069807	0.29801	1.672599	0.999999888486622	0.74766	0.437478	0.07067	0	0.475579	0.06741	0	0.606814	0.37721	0	0.56214	0.19341	0	.	.	4.36	2.44	0.28875	0.821000	0.26993	0.000000	0.13247	0.590000	0.31872	0.997000	0.40164	0.467000	0.25033	0.187000	0.21511	0.1125:0.0:0.6672:0.2203	4.571	0.11602	893	0.26510	.	.	.	.	.	.	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	524.45	58	chr9	12775846	.	G	T	524.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.377;DP=257;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.04;ReadPosRankSum=0.174;SOR=0.561	GT:AD:DP:GQ:PL	0/1:34,24:58:99:535,0,826	6	0	1	0
chr9	15723666	15723666	A	G	exonic	CCDC171	.	nonsynonymous SNV	CCDC171:NM_001355547:exon12:c.A1435G:p.M479V,CCDC171:NM_001348002:exon14:c.A1156G:p.M386V	.	532	987	2	1	0	4	0.00202224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0049	0.000798722	0.0039	0.0010	0.0014	0	0.0059	0.0057	0.0023	0.0014	0.0039003	603	154602	rs192857827	0.0049	0.0050	0.0050	0.0048	0.0057	0.0048	0.0048	0.0056	0.0055	0.0007	0.0009	0.0031	0	0.0048	0.0032	0.0057	0.0041	0.0013	0.0036	0.0036	0.0037	0.0034	0.0058	0.0033	0.0032	0.0053	0.0052	0.0010	0	0.0031	0.0020	0	0.0042	0	0.0058	0.0024	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	277.27	31	chr9	15723666	.	A	G	277.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.52;DP=167;ExcessHet=0;FS=1.446;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.94;ReadPosRankSum=-0.099;SOR=1.179	GT:AD:DP:GQ:PL	0/1:17,14:31:99:287,0,410	5	0	1	1
chr9	17394996	17394996	C	T	exonic	CNTLN	.	nonsynonymous SNV	CNTLN:NM_001365029:exon15:c.C2542T:p.H848Y,CNTLN:NM_017738:exon15:c.C2542T:p.H848Y	.	426	1078	15	3	0	21	0.0096463	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	.	0.0057	0.00359425	0.0058	0.0004	0.0038	0	0.0127	0.0079	0.0089	0.0024	0.0058279	901	154602	rs144166918	0.0068	0.0068	0.0069	0.0066	0.0071	0.0067	0.0066	0.0069	0.0069	0.0009	0.0051	0.0203	2.519e-05	0.0116	0.0061	0.0071	0.0059	0.0031	0.0052	0.0052	0.0050	0.0054	0.0069	0.0049	0.0048	0.0059	0.0055	0.0007	0	0.0069	0.0202	0	0.0144	0.0136	0.0062	0.0038	0.0017	0.014	0.53172	D	0.044	0.49663	D	0.264	0.31602	B	0.055	0.25995	B	.	.	.	.	0.95295	0.37808	D	2.43	0.70455	M	2.21	0.18414	T	-1.33	0.33197	N	0.436	0.47487	-1.1197	0.02350	T	0.066	0.27364	T	9	0.005052775	0.00109	T	.	.	.	0.097	0.27909	.	.	0.0611884634855	0.05136	0.08164205980192901	0.08099	.	.	0.426689594984	0.28755	T	.	.	.	-0.404872	0.02151	T	-0.348657	0.39359	T	0.0438886258736104	0.04401	T	0.811819	0.46320	T	.	.	.	.	.	.	.	.	-5.253	0.39476	T	.	.	0.175	0.38281	B	.	.	4.184124	0.63012	24.5	0.99773894908934191	0.86174	0.93785	0.59184	D	AEFBI	0.523727	0.54721	D	0.423311050390687	0.62706	4.491064	0.530791572137921	0.70071	5.451773	0.99999999363096	0.74766	0.730579	0.87903	0	0.573888	0.26702	0	0.749866	0.98131	0	0.635551	0.53088	0	.	.	5.93	5.93	0.95888	6.601000	0.74015	7.731000	0.67736	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.942	0.97166	651	0.62880	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005539	0.000000	0.002717	0.002924	0.000000	0.025862	0.006098	0.011364	0.07143	203.63	23	chr9	17394996	.	C	T	203.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.204;DP=250;ExcessHet=0;FS=4.33;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.85;ReadPosRankSum=-0.517;SOR=1.751	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:15,8:23:99:0|1:17394996_C_T:214,0,606:17394996	6	0	1	0
chr9	19123608	19123608	C	T	exonic	PLIN2	.	nonsynonymous SNV	PLIN2:NM_001122:exon4:c.G266A:p.R89K	.	427	1089	6	0	0	6	0.00274725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.00450961062856	.	.	8.264e-06	0	0	0	0	1.502e-05	0	0	6.5e-06	1	154602	rs745938132	3.42e-06	4.104e-06	0	6.875e-06	0.0003	1e-06	7.3e-07	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.02639	T	0.003	0.11197	B	0.009	0.14300	B	0.000011	0.62929	D	0.154989	0.529753	0.31501	N	0.27	0.09956	N	3.62	0.04399	T	1.0	0.01761	N	0.154	0.15888	-1.0062	0.28095	T	0.007	0.02321	T	10	0.13261768	0.25241	T	0.00451	0.11094	T	0.187	0.46274	0.585	0.71245	0.378148810121	0.37422	0.4906652354338742	0.48986	0.0333552641458	0.03491	0.363964140415	0.19962	T	0.07805	0.35799	T	-0.150881	0.28174	T	-0.454506	0.27201	T	0.190338685959627	0.19864	T	0.788221	0.42759	T	0.06559524	0.14035	0.068901	0.14448	0.06559524	0.14035	0.068901	0.14447	-1.705	0.02242	T	.	.	0.068	0.07507	B	.;.;.;.	.;.;.;.	1.230921	0.16258	12.42	0.87995015863333848	0.17637	0.81645	0.41007	D	AEFDBHCI	0.261809	0.37968	N	-0.318039710926769	0.28463	1.570128	-0.0581230694635351	0.37140	2.170669	0.999999989903047	0.74766	0.722319	0.85440	0	0.696144	0.67643	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.94	5.94	0.96165	1.384000	0.34003	0.003000	0.13321	0.549000	0.26987	1.000000	0.71638	0.472000	0.25058	0.950000	0.49671	0.0:0.8113:0.0:0.1887	7.803	0.28351	671	0.60868	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1408.44	113	chr9	19123608	.	C	T	1408.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.76;DP=290;ExcessHet=0;FS=1.546;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.46;ReadPosRankSum=0.063;SOR=0.525	GT:AD:DP:GQ:PL	0/1:51,62:113:99:1419,0,1292	6	0	1	0
chr9	35751276	35751276	T	G	exonic	RGP1	.	nonsynonymous SNV	RGP1:NM_001080496:exon6:c.T498G:p.D166E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.00358232934776	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.023	0.19966	B	0.000001	0.84330	D	0.093877	0.812457	0.34660	D	0.01	0.07948	N	.	.	.	0.09	0.05917	N	0.313	0.35301	-1.0130	0.25975	T	0.068	0.27845	T	9	0.0805538	0.13088	T	0.003582	0.08185	T	0.090	0.26093	0.441	0.49648	0.206339911435	0.20273	0.33821284692644143	0.33734	0.174257037238	0.19618	0.586529970169	0.51005	T	0.005462	0.04911	T	-0.291332	0.09503	T	-0.656254	0.08521	T	0.245180889964104	0.22656	T	0.610139	0.23115	T	0.08552729	0.19844	0.062405653	0.12205	0.08552729	0.19843	0.062405653	0.12205	-4.987	0.36698	T	.	.	0.116	0.23500	B	.	.	2.056802	0.26148	17.02	0.78497283107076599	0.12326	0.79849	0.39650	D	AEFDBI	0.170549	0.29746	N	-0.49421557362871	0.22269	1.187937	-0.264316474339988	0.29282	1.639339	0.999979708145109	0.50053	0.722319	0.85440	0	0.653731	0.59785	0	0.65145	0.50148	0	0.735409	0.98432	0	.	.	5.52	4.39	0.52211	2.783000	0.47453	1.558000	0.27338	-0.171000	0.11205	1.000000	0.71638	1.000000	0.68203	0.767000	0.36405	0.0:0.1553:0.0:0.8447	8.070	0.29846	99	0.95913	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	651.53	67	chr9	35751276	.	T	G	651.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.054;DP=262;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.72;ReadPosRankSum=0.29;SOR=0.687	GT:AD:DP:GQ:PL	0/1:37,30:67:99:662,0,877	6	0	1	0
chr9	35906598	35906598	-	CCACCCCCACCG	exonic	HRCT1	.	nonframeshift insertion	HRCT1:NM_001039792:exon1:c.311_312insCCACCCCCACCG:p.H109_H110insPHRH	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs762598108	0.0022	0.0020	0.0023	0.0020	0.0057	0.0021	0.0021	0.0037	0.0031	0.0014	0.0014	0.0008	0.0006	0.0011	0.0057	0.0024	0.0027	0.0008	0.0026	0.0027	0.0026	0.0026	0.0035	0.0023	0.0021	0.0030	0.0028	0.0017	0	0.0026	0.0013	0.0008	0.0012	0.0057	0.0035	0.0022	0.0018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	498.39	17	chr9	35906598	.	A	ACCACCCCCACCG	498.39	.	AC=1;AF=0.1;AN=10;BaseQRankSum=0.994;DP=200;ExcessHet=0.5115;FS=0;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=14.66;ReadPosRankSum=1.32;SOR=0.573	GT:AD:DP:GQ:PL	0/1:9,8:17:99:307,0,355	4	0	1	2
chr9	38610339	38610339	C	T	exonic	ANKRD18A	.	nonsynonymous SNV	ANKRD18A:NM_001331100:exon5:c.G674A:p.R225H,ANKRD18A:NM_147195:exon5:c.G674A:p.R225H	.	437	1074	11	0	0	11	0.00509495	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00097080693899	.	0.000599042	0.0031	0.0004	0	0	0	0.0036	0.0042	0.0044	0.0006339	98	154602	rs200461192	0.0020	0.0019	0.0019	0.0020	0.0054	0.0019	0.0019	0.0039	0.0034	0.0002	0.0022	0.0059	0	0.0001	0.0054	0.0020	0.0023	0.0025	0.0016	0.0016	0.0017	0.0016	0.0024	0.0015	0.0014	0.0021	0.0020	0.0004	0	0.0016	0.0078	0	0.0002	0.0136	0.0024	0.0024	0.0010	0.121	0.27783	T	0.249	0.23776	T	0.054	0.22658	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.805	0.20218	L	1.55	0.29866	T	-0.18	0.09796	N	0.109	0.09490	-1.0312	0.20066	T	0.043	0.18451	T	7	0.005859643	0.00131	T	9.71E-4	0.01003	T	0.025	0.05312	.	.	0.0138822411134	0.00435	0.06953741690592233	0.06891	0.0301046387566	0.03106	0.842436909676	0.88465	D	0.001522	0.00969	T	-0.649699	0.00073	T	-0.71064	0.05263	T	0.00105927226958556	0.00010	T	0.218978	0.02800	T	0.02896199	0.02316	0.05091302	0.08089	0.02896199	0.02316	0.05091302	0.08088	-1.579	0.01933	T	.	.	0.067	0.02518	B	.	.	0.099798	0.05017	1.568	0.67235018702909288	0.08294	0.00025	0.00253	N	AEFGI	0.019622	0.00698	N	-1.44879507745295	0.02226	0.09807786	-1.59371509615333	0.01693	0.07692855	0.0958301257809382	0.16235	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	0.578	-1.16	0.09181	0.182000	0.16710	-0.190000	0.11047	-0.892000	0.02379	0.062000	0.21832	0.000000	0.08366	0.003000	0.05239	.	.	.	976	0.04745	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.010937	0.016129	0.000000	0.000000	0.000000	0.000000	0.005814	0.041667	0.07143	846.44	92	chr9	38610339	.	C	T	846.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.68;DP=278;ExcessHet=0;FS=1.707;MLEAC=1;MLEAF=0.071;MQ=57.02;MQRankSum=-5.898;QD=9.2;ReadPosRankSum=-0.123;SOR=0.914	GT:AD:DP:GQ:PL	0/1:54,38:92:99:857,0,1212	6	0	1	0
chr9	70610723	70610723	C	G	exonic	TRPM3	.	nonsynonymous SNV	TRPM3:NM_001366150:exon17:c.G2487C:p.E829D,TRPM3:NM_206944:exon17:c.G2028C:p.E676D,TRPM3:NM_001007471:exon18:c.G2517C:p.E839D,TRPM3:NM_001366141:exon18:c.G2523C:p.E841D,TRPM3:NM_001366143:exon18:c.G2523C:p.E841D,TRPM3:NM_001366149:exon18:c.G2523C:p.E841D,TRPM3:NM_001366151:exon18:c.G2517C:p.E839D,TRPM3:NM_020952:exon18:c.G2058C:p.E686D,TRPM3:NM_206945:exon18:c.G2064C:p.E688D,TRPM3:NM_206947:exon18:c.G2103C:p.E701D,TRPM3:NM_001366142:exon19:c.G2559C:p.E853D,TRPM3:NM_001366145:exon19:c.G2553C:p.E851D,TRPM3:NM_001366146:exon19:c.G2553C:p.E851D,TRPM3:NM_001366148:exon19:c.G2598C:p.E866D,TRPM3:NM_001366154:exon19:c.G2094C:p.E698D,TRPM3:NM_024971:exon19:c.G2094C:p.E698D,TRPM3:NM_206946:exon19:c.G2133C:p.E711D,TRPM3:NM_001366147:exon20:c.G2628C:p.E876D,TRPM3:NM_001366152:exon20:c.G2628C:p.E876D	.	417	1057	44	4	0	52	0.0240074	.	.	.	2826143	not_provided|TRPM3-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.024	0.0118216210745	0.0051	0.00319489	0.0054	0.0011	0.0036	0	0.0017	0.0064	0.0055	0.0094	0.0053298	824	154602	rs117283138	0.0067	0.0068	0.0065	0.0070	0.0160	0.0066	0.0066	0.0133	0.0123	0.0010	0.0058	0.0076	5.038e-05	0.0012	0.0160	0.0071	0.0068	0.0102	0.0048	0.0048	0.0047	0.0049	0.0082	0.0045	0.0044	0.0070	0.0066	0.0015	0.0110	0.0082	0.0046	0.0002	0.0006	0.0102	0.0067	0.0028	0.0079	0.271	0.18562	T	0.567	0.13140	T	0.0	0.11197	B	0.002	0.13708	B	0.000076	0.52346	D	0.165839	0.625744	0.32745	D	.	.	.	-1.71	0.83157	D	-0.68	0.19509	N	0.334	0.66615	-0.9954	0.31191	T	0.053	0.22462	T	10	0.0075959265	0.00173	T	0.011822	0.29821	T	0.456	0.75483	0.146	0.04941	0.605332244828	0.60217	0.46486820445237925	0.46405	0.754220577707	0.63932	0.519244551659	0.41520	T	0.07558	0.35299	T	-0.24288	0.14984	T	-0.114123	0.62281	T	0.00462167889087959	0.00049	T	0.872913	0.59112	D	.	.	.	.	.	.	.	.	-3.589	0.17698	T	.	.	0.074	0.06069	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	1.842900	0.23410	16.01	0.99042235127147105	0.51051	0.70471	0.34604	D	AEFBI	0.296227	0.40613	N	-0.246729905854376	0.31234	1.74935	-0.200379544437532	0.31524	1.784809	0.789892153716543	0.23996	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	6.17	1.1	0.19578	-0.370000	0.07578	-0.502000	0.08796	0.599000	0.40250	0.412000	0.26266	0.032000	0.21310	0.991000	0.66497	0.1174:0.5602:0.0:0.3225	5.807	0.17708	976	0.04745	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	0.010070	0.000000	0.008152	0.017544	0.000000	0.008621	0.009146	0.022727	0.07143	518.53	50	chr9	70610723	.	C	G	518.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.104;DP=227;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.37;ReadPosRankSum=-1.661;SOR=0.728	GT:AD:DP:GQ:PL	0/1:26,24:50:99:529,0,633	6	0	1	0
chr9	71698017	71698017	T	C	exonic	CEMIP2	.	nonsynonymous SNV	CEMIP2:NM_001135820:exon19:c.A3376G:p.T1126A,CEMIP2:NM_001349784:exon20:c.A1651G:p.T551A,CEMIP2:NM_013390:exon20:c.A3565G:p.T1189A	.	424	1086	11	1	0	13	0.00594966	.	.	.	2427603	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.094	0.00380662956895	0.0005	0.000798722	0.0009	9.61e-05	0.0009	0	0.0005	0.0012	0.0022	0.0010	0.0008732	135	154602	rs201694886	0.0006	0.0006	0.0006	0.0007	0.0080	0.0006	0.0006	0.0062	0.0055	0.0003	0.0005	0.0031	0	0.0003	0.0080	0.0005	0.0012	0.0013	0.0007	0.0007	0.0006	0.0007	0.0010	0.0006	0.0005	0.0008	0.0008	0.0001	0	0.0007	0.0017	0	0	0.0238	0.0010	0.0009	0.0004	0.524	0.25664	T	0.536	0.24987	T	0.001	0.09854	B	0.003	0.14300	B	0.118133	0.19126	N	0.580439	1	0.08975	N	.	.	.	0.81	0.48460	T	-1.59	0.40850	N	0.173	0.23884	-1.0468	0.15303	T	0.062	0.25672	T	10	0.006872356	0.00156	T	0.003807	0.08899	T	0.094	0.27141	.	.	0.223146558224	0.21909	0.578841830112091	0.57813	0.168028649199	0.18950	0.297638714314	0.10050	T	0.028113	0.20438	T	-0.556924	0.00265	T	-0.613293	0.11718	T	0.0203770377283535	0.00737	T	0.59944	0.32403	T	0.029134512	0.02360	0.031483978	0.01744	0.029134512	0.02359	0.031483978	0.01744	-3.313	0.13906	T	.	.	0.065	0.04517	B	.;.;.	.;.;.	1.761415	0.22403	15.61	0.89515854337299094	0.18863	0.86564	0.45870	D	AEFDGBI	0.133103	0.25265	N	-0.733214468905173	0.15093	0.7576322	-0.661355988984465	0.17930	0.955628	0.983492907210702	0.30569	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.8	-1.14	0.09241	2.364000	0.43840	1.331000	0.25669	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.1281:0.1347:0.2266:0.5106	1.857	0.02988	871	0.31377	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006042	0.000000	0.009511	0.011696	0.000000	0.008621	0.000000	0.003788	0.07143	433.53	30	chr9	71698017	.	T	C	433.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.389;DP=203;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.45;ReadPosRankSum=-0.503;SOR=0.776	GT:AD:DP:GQ:PL	0/1:13,17:30:99:444,0,343	6	0	1	0
chr9	92080918	92080918	G	C	exonic	SPTLC1	.	nonsynonymous SNV	SPTLC1:NM_001281303:exon4:c.C306G:p.N102K,SPTLC1:NM_006415:exon4:c.C306G:p.N102K,SPTLC1:NM_178324:exon4:c.C306G:p.N102K	Neuropathy, hereditary sensory and autonomic, type IA, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.845	0.399896509883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0068	0.0012	0.0010	0.0013	0.0011	0.0010	0.0013	0.0012	0.0012	4.477e-05	0.0003	0.0002	1.873e-05	0.0009	0.0013	0.0009	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.005	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.83	0.95627	H	-3.73	0.95458	D	-5.47	0.87143	D	0.946	0.96984	1.004	0.97255	D	0.941	0.98064	D	10	0.97626525	0.97408	D	0.399897	0.93374	D	0.845	0.95175	0.798	0.91802	0.945416172085	0.94484	0.9614716476571766	0.96133	1.13632118652	0.78799	0.737543225288	0.72611	T	0.97255	0.99710	D	0.219858	0.75763	D	0.0780339	0.75447	D	0.995089709758759	0.86803	D	0.978602	0.92442	D	0.9519136	0.96460	0.8880654	0.94130	0.9519136	0.96460	0.8880654	0.94130	-14.216	0.93737	D	0.860758186576928	0.92428	0.988	0.93037	P	.;.	.;.	4.020987	0.59386	24.1	0.9926344721683531	0.57289	0.83408	0.42527	D	AEFBI	0.256177	0.37516	N	0.211284656944223	0.51746	3.353416	0.0637648407406021	0.42742	2.59063	0.00398181740670549	0.10368	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.0	2.15	0.26590	1.717000	0.37612	4.300000	0.42938	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.3508:0.0:0.6492:0.0	10.600	0.44552	892	0.26670	Aminotransferase, class I/classII;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	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	0/1:133,102:248:99:459,0,1821	0	0	7	0
chr9	92474742	92474742	-	TCCTCATCA	exonic	ASPN	.	nonframeshift insertion	ASPN:NM_001193335:exon3:c.152_153insTGATGAGGA:p.D50_E51insDDE,ASPN:NM_017680:exon3:c.152_153insTGATGAGGA:p.D50_E51insDDE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1491116407	0.0006	0.0006	0.0006	0.0006	0.0007	0.0006	0.0006	0.0007	0.0007	0.0002	0.0004	0.0002	2.652e-05	3.958e-05	0.0004	0.0007	0.0004	2.448e-05	0.0004	0.0004	0.0004	0.0004	0.0007	0.0003	0.0003	0.0005	0.0005	0.0002	0	0.0001	0	0	0	0	0.0007	0.0015	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	10092.2	56	chr9	92474742	.	C	CTCCTCATCA	10092.2	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.405;DP=629;ExcessHet=1.1394;FS=0.954;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=27.57;ReadPosRankSum=0.448;SOR=0.631	GT:AD:DP:GQ:PL	0/1:0,22:56:99:2222,1293,1538	6	0	1	0
chr9	99020443	99020443	G	T	splicing	COL15A1	NM_001855:exon12:c.1701+1G>T	.	.	.	424	1087	11	0	0	11	0.00503432	0.9998	0.644	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0013	0.000399361	0.0014	0.0003	0.0004	0	0.0002	0.0016	0.0022	0.0031	0.0012936	200	154602	rs139218633	0.0010	0.0010	0.0009	0.0011	0.0034	0.0010	0.0009	0.0030	0.0029	0.0003	0.0011	0.0072	0	5.617e-05	0.0033	0.0007	0.0015	0.0034	0.0010	0.0010	0.0011	0.0008	0.0033	0.0008	0.0008	0.0021	0.0017	9.618e-05	0	0.0017	0.0069	0	9.409e-05	0	0.0011	0.0009	0.0033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.998355	0.44809	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.7315	0.00023	T	-0.827204	0.01312	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	3.363564	0.46445	22.3	0.50495399776478223	0.04394	0.30586	0.24120	N	AEFDGBCI	.	.	.	0.11469213600687	0.47148	2.944589	-0.259798412716786	0.29434	1.649087	0.999906067400715	0.45458	0.084569	0.02224	0	0.059962	0.00310	0	0.063197	0.01477	0	0.088719	0.02468	0	0.166886	0.28630	2.8	-0.586	0.11108	0.587000	0.23611	1.451000	0.26606	-0.154000	0.11915	0.996000	0.39380	1.000000	0.68203	0.223000	0.22544	0.1348:0.2095:0.4416:0.2141	1.514	0.02351	872	0.31118	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	418.27	57	chr9	99020443	.	G	T	418.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.471;DP=229;ExcessHet=0;FS=2.326;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.34;ReadPosRankSum=-0.05;SOR=0.916	GT:AD:DP:GQ:PL	0/1:36,21:57:99:428,0,894	5	0	1	1
chr9	101429893	101429893	G	C	exonic	ALDOB	.	nonsynonymous SNV	ALDOB:NM_000035:exon3:c.C186G:p.I62M	Fructose intolerance, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.229	0.0223698124844	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.50132	D	0.214	0.26386	T	0.002	0.09854	B	0.031	0.21939	B	0.010708	0.29815	N	0.395579	0.998558	0.81001	D	0.255	0.09829	N	-2.06	0.85875	D	-0.2	0.10136	N	0.245	0.27673	-1.0338	0.19236	T	0.219	0.58227	T	10	0.20269671	0.36398	T	0.02237	0.45252	T	0.229	0.52916	0.637	0.77361	0.347217280506	0.34334	0.666500206992419	0.66588	0.0167736739435	0.01621	0.507414579391	0.39861	T	0.48863	0.81419	T	-0.141023	0.29726	T	-0.440346	0.28769	T	0.152534916996956	0.17304	T	0.848715	0.53499	T	0.20012936	0.41977	0.081869036	0.18640	0.20012936	0.41977	0.081869036	0.18640	-2.661	0.06981	T	0.07479855287565809	0.03274	0.087	0.14660	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.252354	0.16495	12.57	0.93993597529210604	0.24084	0.23762	0.22180	N	AEFBI	.	.	.	-1.26536235074626	0.04100	0.1844152	-1.16424264760927	0.06516	0.313882	0.978979408359638	0.29978	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.94	-4.94	0.02830	-0.489000	0.06570	-1.021000	0.06580	-0.964000	0.01968	0.105000	0.22895	0.000000	0.08366	0.983000	0.59808	0.1491:0.4917:0.2732:0.0861	7.019	0.24085	888	0.27761	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	981.49	66	chr9	101429893	.	G	C	981.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.63;DP=243;ExcessHet=0;FS=0.945;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.87;ReadPosRankSum=-2.133;SOR=0.806	GT:AD:DP:GQ:PL	0/1:29,37:66:99:992,0,638	6	0	1	0
chr9	106974250	106974250	T	C	exonic	ZNF462	.	nonsynonymous SNV	ZNF462:NM_001347997:exon9:c.T4214C:p.I1405T,ZNF462:NM_021224:exon9:c.T6809C:p.I2270T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.332	0.0225480179474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.29554	T	0.0	0.92824	D	0.998	0.73220	D	0.987	0.77487	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.575	0.39704	L	3.38	0.05778	T	-0.68	0.36980	N	0.873	0.87049	-1.0740	0.08556	T	0.061	0.25455	T	10	0.3783521	0.54005	T	0.022548	0.45449	T	0.332	0.65424	0.419	0.46036	0.043077524339	0.03247	0.5838881706070325	0.58317	2.02329959298	0.94019	0.924512147903	0.98647	D	0.011805	0.11071	T	0.105501	0.64882	D	-0.0862318	0.64445	T	0.798904538154602	0.46279	D	0.963604	0.86445	D	0.1377539	0.31884	0.16932428	0.38958	0.1377539	0.31884	0.16932428	0.38957	-11.857	0.84147	D	.	.	0.989	0.94382	P	.;.;.	.;.;.	4.830708	0.78774	27.0	0.99799257148110543	0.88461	0.98380	0.82188	D	AEFBI	0.909931	0.86721	D	0.462121070414506	0.64895	4.754563	0.527672054984196	0.69859	5.42084	0.999999998491949	0.74766	0.67177	0.52595	0	0.546412	0.12157	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.66	5.66	0.87293	7.645000	0.82580	6.207000	0.54965	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:0.0:1.0	15.905	0.79209	677	0.60274	Zinc finger C2H2-type;Zinc finger C2H2-type;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	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|1:60,11:71:36:0|1:106974250_T_C:36,0,2003:106974250	0	0	5	2
chr9	110697338	110697338	T	C	exonic	MUSK	.	nonsynonymous SNV	MUSK:NM_001166280:exon5:c.T500C:p.I167T,MUSK:NM_001166281:exon5:c.T500C:p.I167T,MUSK:NM_005592:exon5:c.T500C:p.I167T	Fetal akinesia deformation sequence, Autosomal recessive;Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, Autosomal recessive	1	1491	28	2	0	32	0.0106171	.	.	.	310665	Inborn_genetic_diseases|Congenital_myasthenic_syndrome_9|Fetal_akinesia_deformation_sequence_1|MUSK-related_disorder|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014587,MedGen:C4225368,OMIM:616325,Orphanet:590|Human_Phenotype_Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150,Orphanet:994|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.073	0.0105356802295	0.0006	0.000998403	0.0011	0	8.639e-05	0.0001	0	0.0004	0	0.0064	0.0009638	149	154602	rs202045225	0.0008	0.0008	0.0006	0.0010	0.0076	0.0008	0.0008	0.0069	0.0067	2.988e-05	0.0001	0.0034	5.042e-05	1.875e-05	0.0076	0.0004	0.0009	0.0074	0.0005	0.0005	0.0003	0.0006	0.0060	0.0004	0.0004	0.0043	0.0037	0	0	0.0002	0.0035	0	0	0	0.0004	0	0.0060	0.227	0.27544	T	0.408	0.39645	T	0.0	0.02946	B	0.013	0.16460	B	0.000338	0.45700	N	0.223986	0.979095	0.47691	D	1.52	0.38360	L	-0.32	0.68181	T	-0.51	0.19509	N	0.366	0.44857	-0.9802	0.34955	T	0.180	0.52736	T	10	0.008293927	0.00188	T	0.010536	0.27195	T	0.073	0.21317	.	.	0.642361509819	0.63941	0.5543889347204217	0.55365	0.210267244558	0.23511	0.463808655739	0.33832	T	0.085329	0.37478	T	-0.457993	0.01012	T	-0.426787	0.30301	T	0.0137720248757838	0.00259	T	0.758424	0.41060	T	0.08186974	0.18832	0.09594791	0.22777	0.10821594	0.25586	0.1335766	0.32027	-7.667	0.58778	D	0.1998646848778895	0.26509	0.444	0.71856	A	.;.;.;.;.	.;.;.;.;.	1.949993	0.24767	16.52	0.7974631330892249	0.12882	0.79331	0.39290	D	AEFGBI	0.188104	0.31539	N	-0.666228027466867	0.16988	0.870428	-0.485543765250945	0.22551	1.225413	0.446587483137447	0.20502	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.88	3.57	0.40014	3.236000	0.51035	1.902000	0.29588	-0.912000	0.02253	1.000000	0.71638	1.000000	0.68203	0.904000	0.43992	0.0:0.1478:0.0:0.8522	10.855	0.46000	963	0.08280	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003525	0.000000	0.001359	0.005848	0.000000	0.000000	0.006098	0.011364	0.07143	537.45	75	chr9	110697338	.	T	C	537.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.321;DP=261;ExcessHet=0;FS=1.991;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.17;ReadPosRankSum=1.26;SOR=0.997	GT:AD:DP:GQ:PL	0/1:48,27:75:99:548,0,1153	6	0	1	0
chr9	114406374	114406374	C	G	exonic	WHRN	.	nonsynonymous SNV	WHRN:NM_001346890:exon5:c.G1164C:p.R388S,WHRN:NM_001083885:exon9:c.G1068C:p.R356S,WHRN:NM_001173425:exon9:c.G2217C:p.R739S,WHRN:NM_015404:exon9:c.G2217C:p.R739S	Deafness, autosomal recessive 31, Autosomal recessive;Usher syndrome, type 2D, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.246	0.0237251287023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.249	0.34959	T	0.996	0.68779	D	0.956	0.69739	D	0.000003	0.62929	D	0.058524	0.999998	0.58761	D	2.485	0.72352	M	3.72	0.11082	T	-1.76	0.41618	N	0.794	0.79022	-1.1467	0.01127	T	0.071	0.28969	T	10	0.7061209	0.72749	D	0.023725	0.46702	T	0.246	0.55340	0.267	0.21418	0.465381546717	0.46164	0.546202977391294	0.54546	0.217767607061	0.24300	0.665198624134	0.62152	T	0.178877	0.52967	T	0.156707	0.69894	D	-0.0126771	0.69508	D	0.965095579624176	0.67160	D	0.918408	0.70674	D	0.43276304	0.62933	0.30041197	0.56075	0.43276304	0.62933	0.30041197	0.56074	-3.765	0.20655	T	.	.	0.861	0.82156	P	.;.;.	.;.;.	4.122777	0.61634	24.4	0.99728939135831174	0.82619	0.85209	0.44322	D	AEFDBI	0.404361	0.47768	N	0.490746823562894	0.66546	4.964436	0.418910173237003	0.62744	4.495032	0.999998553595518	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.586402	0.36253	0	.	.	5.29	4.38	0.52019	0.480000	0.21954	1.068000	0.23780	0.599000	0.40250	0.996000	0.39380	1.000000	0.68203	0.662000	0.33024	0.0:0.8454:0.0:0.1546	9.668	0.39158	627	0.65350	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	525.18	104	chr9	114406374	.	C	G	525.18	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-1.975;DP=914;ExcessHet=1.1394;FS=125.612;MLEAC=3;MLEAF=0.3;MQ=60;MQRankSum=0;QD=1.18;ReadPosRankSum=0.699;SOR=9.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:93,11:104:7:.:.:7,0,3258:.	2	0	3	2
chr9	115084436	115084436	G	A	exonic	TNC	.	nonsynonymous SNV	TNC:NM_002160:exon4:c.C1904T:p.T635M	Deafness, autosomal dominant 56, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.416	0.0808360596901	7.7e-05	.	4.958e-05	0	0	0	0	6.011e-05	0.0011	6.083e-05	6.47e-05	10	154602	rs375940361	4.925e-05	4.925e-05	5.173e-05	4.675e-05	0.0002	3.992e-05	3.669e-05	4.699e-05	4.281e-05	0	0	0	7.557e-05	0	0.0002	5.845e-05	3.311e-05	1.159e-05	2.629e-05	2.627e-05	1.285e-05	4.036e-05	7.239e-05	8.14e-06	5.14e-06	1.919e-05	1.032e-05	7.239e-05	0	0	0	0	0	0	1.47e-05	0	0	0.004	0.68238	D	0.001	0.92824	D	1.0	0.90584	D	0.996	0.88582	D	0.000000	0.84330	D	0.092011	0.999999	0.58761	D	3.23	0.89537	M	0.15	0.60734	T	-4.15	0.76576	D	0.662	0.73015	0.098	0.84136	D	0.506	0.81411	D	10	0.78250146	0.77971	D	0.080836	0.73550	D	0.416	0.72631	.	.	0.863698320943	0.86237	0.8091496846171459	0.80869	0.671780626533	0.59483	0.618885457516	0.55571	T	0.490273	0.81514	T	0.115833	0.65951	D	0.120292	0.78255	D	0.8244309999971	0.48103	D	0.985601	0.95568	D	0.3558316	0.57517	0.41968617	0.65955	0.3558316	0.57518	0.41968617	0.65955	-11.646	0.83084	D	0.5443687152201885	0.61364	0.220	0.47794	B	.;.;.;.;.;.	.;.;.;.;.;.	5.502524	0.91598	32	0.9993617718183031	0.99621	0.92625	0.56153	D	AEFBHCI	0.831389	0.74993	D	0.948979518603671	0.93944	12.388	0.899737602890719	0.95561	13.74057	0.999999999994967	0.74766	0.615465	0.37627	0	0.563428	0.19063	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.93	5.93	0.95888	6.333000	0.72893	9.951000	0.82728	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.971000	0.54645	0.0:0.0:1.0:0.0	20.342	0.98770	551	0.72115	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1391.44	89	chr9	115084436	.	G	A	1391.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.369;DP=307;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.63;ReadPosRankSum=0.384;SOR=0.706	GT:AD:DP:GQ:PL	0/1:34,55:89:99:1402,0,762	6	0	1	0
chr9	122511447	122511447	-	TA	exonic	OR1J2	.	frameshift insertion	OR1J2:NM_054107:exon1:c.646_647insTA:p.S217Yfs*11	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8e-05	.	8.593e-06	0	0	0	0	1.527e-05	0	0	6.5e-06	1	154602	rs777178879	6.385e-06	6.36e-06	3.506e-06	8.79e-06	0.0002	1.49e-06	1.01e-06	2.29e-06	6.3e-07	0	0	0	0	0	0.0002	8.594e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	1373.4	85	chr9	122511447	.	G	GTA	1373.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.939;DP=283;ExcessHet=0;FS=2.902;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.16;ReadPosRankSum=-0.794;SOR=0.927	GT:AD:DP:GQ:PL	0/1:48,37:85:99:1384,0,1872	6	0	1	0
chr9	123035413	123035413	C	T	exonic	GPR21	.	nonsynonymous SNV	GPR21:NM_005294:exon2:c.C847T:p.R283C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.337	.	0.0002	0.000998403	0.0011	0.0002	0	0	0.0139	0.0006	0.0022	6.057e-05	0.0009056	140	154602	rs139223372	0.0006	0.0006	0.0006	0.0006	0.0003	0.0005	0.0005	0.0002	0.0001	0.0003	2.236e-05	0	0	0.0138	0	6.565e-05	0.0005	1.159e-05	0.0011	0.0011	0.0006	0.0016	0.0001	0.0009	0.0009	6.804e-05	5.087e-05	2.406e-05	0	6.537e-05	0	0	0.0142	0	0.0001	0	0	0.049	0.39820	D	0.098	0.39040	T	0.997	0.70673	D	0.862	0.61339	P	0.006252	0.32164	U	0.260617	1	0.81001	D	0.865	0.21413	L	-0.69	0.72678	T	-0.87	0.23590	N	0.399	0.50868	-0.2955	0.75110	T	0.343	0.70827	T	10	0.0051970184	0.00113	T	.	.	.	0.337	0.65913	.	.	0.305926609036	0.30200	0.35648180420822434	0.35562	0.619389203254	0.56290	0.291958421469	0.09208	T	0.020072	0.15869	T	-0.240965	0.15225	T	-0.238968	0.50899	T	0.0391137502074809	0.03530	T	0.694431	0.30396	T	0.12943973	0.30233	0.085060835	0.19613	0.12943973	0.30233	0.085060835	0.19612	-7.255	0.55875	T	.	.	0.378	0.60057	A	.;.	.;.	5.343409	0.89648	31	0.99892103315143221	0.96589	0.87727	0.47364	D	AEFGBCIJ	0.556123	0.56628	D	0.618616356861233	0.74352	6.118234	0.655394161930387	0.79014	6.993528	0.999999996668251	0.74766	0.522611	0.21652	0	0.446627	0.06534	0	0.54472	0.12158	0	0.714379	0.83352	0	.	.	5.93	5.93	0.95888	3.709000	0.54582	7.738000	0.67953	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:1.0:0.0:0.0	20.349	0.98808	883	0.28872	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1017.44	86	chr9	123035413	.	C	T	1017.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=4.58;DP=275;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.83;ReadPosRankSum=-3.52;SOR=0.722	GT:AD:DP:GQ:PL	0/1:50,36:86:99:1028,0,1161	6	0	1	0
chr9	125220560	125220560	C	A	exonic	RABEPK	.	nonsynonymous SNV	RABEPK:NM_001174153:exon5:c.C233A:p.P78Q,RABEPK:NM_005833:exon5:c.C386A:p.P129Q,RABEPK:NM_001174152:exon6:c.C386A:p.P129Q	.	424	1056	38	4	0	46	0.021316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	.	0.0032	0.0131789	0.0108	0.0023	0.0273	0.0366	0.0003	0.0027	0.0099	0.0280	0.0099352	1536	154602	rs74769898	0.0060	0.0060	0.0055	0.0066	0.0350	0.0059	0.0059	0.0335	0.0328	0.0019	0.0264	0.0047	0.0350	0.0002	0.0232	0.0029	0.0067	0.0272	0.0059	0.0059	0.0052	0.0067	0.0292	0.0056	0.0055	0.0254	0.0239	0.0016	0	0.0235	0.0058	0.0292	0	0.0171	0.0028	0.0033	0.0217	0.043	0.57480	D	0.051	0.61642	T	1.0	0.90584	D	0.99	0.78936	D	0.006842	0.31758	N	0.363683	0.999446	0.47080	D	3.72	0.94773	H	0.97	0.66294	T	-4.42	0.84175	D	0.662	0.67132	-1.0783	0.07681	T	0.028	0.12014	T	10	0.0064848065	0.00147	T	.	.	.	0.221	0.51721	.	.	.	.	0.6740180901266283	0.67339	0.233025175349	0.25843	0.377287000418	0.21871	T	0.08909	0.44184	T	-0.249871	0.14115	T	-0.105936	0.62934	T	0.0934891749203669	0.11626	T	0.733327	0.38041	T	0.522306	0.68392	0.43743414	0.67163	0.522306	0.68393	0.43743414	0.67163	-10.065	0.77970	D	.	.	0.174	0.62994	B	.;.;.;.	.;.;.;.	4.352240	0.66859	25.0	0.99131009604192399	0.53249	0.96984	0.72022	D	AEFDGBI	0.664585	0.63370	D	0.31568777204679	0.56953	3.861072	0.418815872447802	0.62737	4.494331	0.999843403595419	0.43971	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.7	5.7	0.88690	4.807000	0.62267	7.675000	0.64997	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.737000	0.35335	0.0:1.0:0.0:0.0	18.832	0.92112	849	0.35778	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.025176	0.005051	0.027174	0.043860	0.050000	0.025862	0.015244	0.022727	0.07143	963.44	93	chr9	125220560	.	C	A	963.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.863;DP=299;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.36;ReadPosRankSum=-2.19;SOR=0.771	GT:AD:DP:GQ:PL	0/1:49,44:93:99:974,0,1062	6	0	1	0
chr9	128203516	128203516	C	A	exonic	DNM1	.	unknown	UNKNOWN	Epileptic encephalopathy, early infantile, 31, Autosomal dominant	13	1488	21	0	0	21	0.00700701	.	.	.	369776	Developmental_and_epileptic_encephalopathy,_31A|Inborn_genetic_diseases|not_specified|not_provided	MONDO:MONDO:0014598,MedGen:C4225357,OMIM:616346,Orphanet:2382|MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.521	.	0.0026	0.0279553	0.0335	0.0038	0.0587	0.1655	0.0035	0.0104	0.0149	0.0402	0.0127489	1971	154602	rs61757224	0.0076	0.0078	0.0071	0.0081	0.1047	0.0075	0.0074	0.1017	0.1005	0.0009	0.0131	0.0004	0.1047	0.0011	0.0031	0.0038	0.0076	0.0273	0.0070	0.0071	0.0060	0.0081	0.0988	0.0067	0.0065	0.0917	0.0889	0.0011	0.0286	0.0054	0	0.0988	0.0007	0.0034	0.0037	0.0062	0.0271	0.019	0.51853	D	0.029	0.55341	D	0.012	0.16265	B	0.01	0.14941	B	0.010094	0.30071	N	0.315063	1	0.81001	D	2.68	0.78455	M	-4.26	0.97078	D	-1.64	0.39314	N	0.093	0.31478	-0.3636	0.73156	T	0.112	0.40052	T	10	0.0020967126	0.00030	T	.	.	.	0.521	0.79643	.	.	.	.	0.7578958498316064	0.75737	1.75258816871	0.91011	0.847831964493	0.89287	D	0.53455	0.83952	D	-0.276053	0.11091	T	-0.0725907	0.65442	T	0.0290570126467959	0.01845	T	0.933807	0.75196	D	0.27371824	0.50438	0.24311496	0.49748	0.28401318	0.51430	0.2125759	0.45731	-4.274	0.30797	T	0.5101791939494381	0.58403	0.262	0.49654	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.092953	0.41652	21.4	0.97068911465426433	0.32230	0.75356	0.36892	D	ALL	0.152075	0.27668	N	-0.224900301049422	0.32113	1.807713	-0.217760301003046	0.30899	1.743806	0.999999999999853	0.74766	0.455138	0.09556	0	0.606814	0.50340	0	0.504199	0.09095	0	0.56751	0.32155	0	.	.	4.78	1.87	0.24559	1.541000	0.35732	1.481000	0.26822	0.491000	0.22372	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:0.7444:0.0:0.2556	8.767	0.33868	359	0.84979	Dynamin, GTPase domain;.;.;.;Dynamin, GTPase domain;.;Dynamin, GTPase domain;.;Dynamin, GTPase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.005589	0.000000	0.002717	0.002941	0.000000	0.008621	0.003165	0.023077	0.07143	523.63	41	chr9	128203516	.	C	A	523.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.182;DP=208;ExcessHet=0;FS=2.755;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.77;ReadPosRankSum=0.106;SOR=0.637	GT:AD:DP:GQ:PL	0/1:17,24:41:99:534,0,347	6	0	1	0
chr9	128469298	128469298	G	A	exonic	ODF2	.	nonsynonymous SNV	ODF2:NM_001351581:exon4:c.G497A:p.R166H,ODF2:NM_153432:exon4:c.G497A:p.R166H,ODF2:NM_153436:exon4:c.G365A:p.R122H,ODF2:NM_153439:exon4:c.G440A:p.R147H,ODF2:NM_153440:exon4:c.G308A:p.R103H,ODF2:NM_001242352:exon5:c.G350A:p.R117H,ODF2:NM_001242353:exon5:c.G365A:p.R122H,ODF2:NM_001351577:exon5:c.G614A:p.R205H,ODF2:NM_001351578:exon5:c.G614A:p.R205H,ODF2:NM_001351579:exon5:c.G350A:p.R117H,ODF2:NM_001351583:exon5:c.G293A:p.R98H,ODF2:NM_001351584:exon5:c.G350A:p.R117H,ODF2:NM_001351586:exon5:c.G293A:p.R98H,ODF2:NM_153433:exon5:c.G365A:p.R122H,ODF2:NM_153435:exon5:c.G557A:p.R186H,ODF2:NM_153437:exon5:c.G308A:p.R103H,ODF2:NM_001351580:exon6:c.G350A:p.R117H,ODF2:NM_001351582:exon6:c.G482A:p.R161H,ODF2:NM_001351585:exon6:c.G350A:p.R117H,ODF2:NM_002540:exon7:c.G293A:p.R98H	.	416	1099	6	1	0	8	0.00362647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.0109698103709	0.0038	0.00139776	0.0030	0.0008	0.0005	0	0.0008	0.0045	0.0022	0.0025	0.0031824	492	154602	rs35903554	0.0042	0.0042	0.0042	0.0042	0.0050	0.0041	0.0041	0.0049	0.0049	0.0008	0.0006	0.0001	2.519e-05	0.0005	0.0016	0.0050	0.0029	0.0029	0.0026	0.0026	0.0028	0.0025	0.0045	0.0024	0.0023	0.0041	0.0039	0.0008	0.0285	0.0008	0	0	0.0002	0	0.0045	0.0024	0.0039	0.132	0.33585	T	0.164	0.35840	T	0.012	0.16265	B	0.002	0.06944	B	0.073630	0.21334	N	0.560958	0.999996	0.20103	N	1.39	0.34934	L	-0.11	0.64445	T	-1.01	0.29525	N	0.095	0.15187	-1.0035	0.28903	T	0.108	0.39246	T	10	0.00464195	0.00097	T	0.01097	0.28104	T	0.115	0.32236	.	.	0.255777322467	0.25185	0.0669948432708928	0.06637	0.510821598874	0.49180	0.253140330315	0.04106	T	0.157611	0.50028	T	-0.457281	0.01022	T	-0.425204	0.30481	T	0.000158423257483252	0.00001	T	0.789921	0.45098	T	0.026983995	0.01826	0.03479626	0.02610	0.026983995	0.01826	0.03479626	0.02610	-3.668	0.20208	T	.	.	0.058	0.09143	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	0.541790	0.09104	5.887	0.93769430161967493	0.23720	0.17541	0.19881	N	AEFGBI	0.057380	0.10682	N	-1.08006619587143	0.07011	0.3244389	-1.06226980769931	0.08452	0.4156898	0.99852727317004	0.37129	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.97	-2.77	0.05529	-0.012000	0.12637	-0.425000	0.09259	-1.982000	0.00461	0.360000	0.25842	0.000000	0.08366	0.531000	0.29730	0.5852:0.1036:0.3112:0.0	9.47	0.38000	451	0.79296	.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000505	0.000000	0.000000	0.000000	0.000000	0.000000	0.006135	0.000000	0.07143	452.44	49	chr9	128469298	.	G	A	452.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.83;DP=226;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.23;ReadPosRankSum=-0.936;SOR=0.818	GT:AD:DP:GQ:PL	0/1:29,20:49:99:463,0,641	6	0	1	0
chr9	128847458	128847482	GGGGCTCCAGCCTTCCTTCCCTGAA	-	exonic	KYAT1	.	frameshift deletion	KYAT1:NM_001287390:exon2:c.47_71del:p.L16Hfs*54,KYAT1:NM_001352994:exon2:c.47_71del:p.L16Hfs*54,KYAT1:NM_001352995:exon2:c.47_71del:p.L16Hfs*53,KYAT1:NM_001352996:exon2:c.47_71del:p.L16Hfs*53,KYAT1:NM_001352997:exon2:c.47_71del:p.L16Hfs*21,KYAT1:NM_001352998:exon2:c.47_71del:p.L16Hfs*21	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	685.5	38	chr9	128847457	.	TGGGGCTCCAGCCTTCCTTCCCTGAA	T	685.5	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.175;DP=211;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=18.04;ReadPosRankSum=0.127;SOR=0.922	GT:AD:DP:GQ:PL	0/1:19,19:38:99:696,0,740	6	0	1	0
chr9	129619764	129619764	T	C	exonic	C9orf50	.	nonsynonymous SNV	C9orf50:NM_199350:exon2:c.A575G:p.N192S	.	424	1067	29	2	0	33	0.0152284	.	.	.	2826464	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.019	.	0.0043	0.00239617	0.0031	0.0011	0.0041	0.0001	0	0.0041	0.0110	0.0020	0.0030595	473	154602	rs139758889	0.0036	0.0036	0.0037	0.0036	0.0106	0.0036	0.0035	0.0085	0.0077	0.0006	0.0042	0.0068	2.519e-05	0.0004	0.0106	0.0039	0.0043	0.0026	0.0031	0.0031	0.0034	0.0029	0.0060	0.0029	0.0028	0.0050	0.0047	0.0008	0	0.0060	0.0075	0	0.0003	0.0136	0.0044	0.0038	0.0025	0.921	0.02304	T	0.647	0.06812	T	0.01	0.15535	B	0.005	0.11217	B	0.391868	0.04482	N	1.419460	1	0.08975	N	-0.46	0.02758	N	2.61	0.13095	T	-1.03	0.27052	N	0.063	0.03502	-0.9702	0.37157	T	0.009	0.03096	T	10	0.0034188926	0.00060	T	.	.	.	0.019	0.03383	.	.	0.0138822411134	0.00435	0.011741665969622806	0.01134	0.529963951167	0.50551	.	.	.	9.3E-4	0.00486	T	-0.749097	0.00018	T	-0.844797	0.01029	T	0.000991300197597474	0.00010	T	0.505449	0.15971	T	0.030348785	0.02682	0.038332105	0.03678	0.030348785	0.02682	0.038332105	0.03678	-1.057	0.01064	T	.	.	0.079	0.07507	B	.	.	-0.024190	0.04119	0.976	0.59347015220903909	0.06203	0.01250	0.04399	N	AEFDBHCI	0.026021	0.01882	N	-1.58098593737585	0.01362	0.05936398	-1.65406289132508	0.01355	0.06118232	0.999999667143698	0.74766	0.446893	0.09132	0	0.563428	0.19063	0	0.608004	0.38603	0	0.554799	0.18163	0	.	.	3.48	-6.22	0.01881	-1.405000	0.02598	-2.377000	0.03830	0.509000	0.23192	0.000000	0.06391	0.000000	0.08366	0.101000	0.18331	0.0:0.2666:0.1454:0.588	5.971	0.18590	607	0.67291	.	.	.	.	.	.	Likely benign	0	0	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	0.014099	0.005051	0.012228	0.002924	0.000000	0.025862	0.027439	0.018939	0.07143	1750.44	134	chr9	129619764	.	T	C	1750.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.009;DP=327;ExcessHet=0;FS=7.805;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=0.732;SOR=0.525	GT:AD:DP:GQ:PL	0/1:60,74:134:99:1761,0,1518	6	0	1	0
chr9	132264633	132264633	A	G	exonic	SETX	.	nonsynonymous SNV	SETX:NM_001351527:exon26:c.T7640C:p.I2547T,SETX:NM_015046:exon26:c.T7640C:p.I2547T,SETX:NM_001351528:exon27:c.T7727C:p.I2576T	Amyotrophic lateral sclerosis 4, juvenile, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 1, Autosomal recessive	0	1502	17	3	0	23	0.00759828	.	.	.	165502	Amyotrophic_lateral_sclerosis_type_4|Spinocerebellar_ataxia,_autosomal_recessive,_with_axonal_neuropathy_2|not_provided|not_specified|Amyotrophic_lateral_sclerosis|Hereditary_spastic_paraplegia	MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433,Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002,Orphanet:64753|MedGen:C3661900|MedGen:CN169374|Human_Phenotype_Ontology:HP:0007354,MONDO:MONDO:0004976,MedGen:C0002736,Orphanet:803|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.112	0.0633152070572	0.0054	0.00259585	0.0034	0.0006	0.0055	0	0.0005	0.0048	0.0055	0.0011	0.0036804	569	154602	rs151117904	0.0052	0.0052	0.0052	0.0051	0.0107	0.0051	0.0050	0.0086	0.0078	0.0012	0.0069	0.0007	0	0.0003	0.0107	0.0060	0.0054	0.0012	0.0043	0.0043	0.0044	0.0042	0.0122	0.0040	0.0039	0.0107	0.0102	0.0015	0	0.0122	0.0006	0	0.0004	0.0034	0.0055	0.0095	0.0006	0.315	0.14595	T	0.475	0.12072	T	0.0	0.02946	B	0.0	0.01387	B	0.000502	0.00624	N	3.286410	1	0.08975	N	0	0.06538	N	-2.72	0.90622	D	0.42	0.03352	N	0.044	0.01658	-0.5751	0.65811	T	0.318	0.68735	T	10	0.0033735633	0.00059	T	0.063315	0.68928	D	0.112	0.31546	.	.	0.425028116352	0.42120	0.12267033688604907	0.12193	0.093049406823	0.10513	0.266960442066	0.05747	T	0.092795	0.39078	T	-0.533684	0.00365	T	-0.533686	0.18921	T	0.000574663953003263	0.00005	T	0.322168	0.06550	T	0.016643604	0.00212	0.03200239	0.01869	0.021115314	0.00697	0.032754432	0.02061	-2.87	0.08847	T	.	.	0.120	0.24833	B	.;.	.;.	-0.108979	0.03587	0.700	0.38995283768389621	0.02664	0.01355	0.04643	N	AEFGBI	0.021710	0.00998	N	-1.43950795165835	0.02300	0.1014283	-1.44411367920124	0.02824	0.1306009	0.999370126307587	0.39355	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.94	-3.37	0.04591	0.238000	0.17782	0.985000	0.23152	-0.786000	0.03287	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.455:0.2372:0.3079:0.0	6.013	0.18811	958	0.09170	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.014602	0.005051	0.017663	0.035088	0.000000	0.017241	0.006098	0.000000	0.07143	927.44	95	chr9	132264633	.	A	G	927.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.747;DP=294;ExcessHet=0;FS=1.681;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.76;ReadPosRankSum=-1.455;SOR=0.961	GT:AD:DP:GQ:PL	0/1:52,43:95:99:938,0,1297	6	0	1	0
chr9	136862464	136862465	CT	-	exonic	EDF1	.	frameshift deletion	EDF1:NM_001281297:exon5:c.417_418del:p.R139Sfs*72	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.845e-07	6.84e-07	0	1.376e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	252.45	16	chr9	136862463	.	GCT	G	252.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.175;DP=176;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.78;ReadPosRankSum=0.052;SOR=1.002	GT:AD:DP:GQ:PL	0/1:9,7:16:99:263,0,351	6	0	1	0
chr10	825249	825249	T	C	exonic	LARP4B	.	nonsynonymous SNV	LARP4B:NM_001351277:exon13:c.A1300G:p.S434G,LARP4B:NM_015155:exon13:c.A1300G:p.S434G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00390173934956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.259	0.16628	T	0.094	0.39645	T	0.034	0.20480	B	0.012	0.16012	B	0.000000	0.84330	D	0.124272	0.999909	0.50806	D	1.83	0.48079	L	1.42	0.33189	T	-1.32	0.32991	N	0.378	0.42149	-1.0760	0.08144	T	0.048	0.20553	T	10	0.09752631	0.17572	T	0.003902	0.09180	T	0.023	0.04649	0.235	0.16457	0.189391138174	0.18552	0.5409899109821052	0.54023	0.296725836107	0.32059	0.615102767944	0.55037	T	0.072244	0.34406	T	-0.147588	0.28690	T	-0.449777	0.27720	T	0.606496572494507	0.36659	D	0.835216	0.50504	T	0.1529754	0.34699	0.12790082	0.30779	0.1529754	0.34699	0.12790082	0.30779	-5.445	0.41350	T	.	.	0.098	0.19679	B	.;.	.;.	3.996231	0.58848	24.0	0.98635954636874601	0.43987	0.96367	0.68792	D	AEFDBI	0.396291	0.47282	N	-0.0822847856859552	0.38168	2.231465	0.131294021325016	0.46157	2.866445	0.999198281609489	0.38711	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.57	5.57	0.84021	5.068000	0.64193	7.942000	0.75525	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0743:0.0:0.9257	10.134	0.41870	884	0.28482	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4167	917.89	56	chr10	825249	.	T	C	917.89	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-2.679;DP=539;ExcessHet=6.1542;FS=221.567;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=2;ReadPosRankSum=1.29;SOR=10.035	GT:AD:DP:GQ:PL	0/1:37,19:56:99:167,0,512	1	0	5	1
chr10	15531075	15531075	G	C	exonic	ITGA8	.	nonsynonymous SNV	ITGA8:NM_001291494:exon27:c.C2912G:p.A971G,ITGA8:NM_003638:exon28:c.C2957G:p.A986G	Renal hypodysplasia/aplasia 1, Autosomal recessive	442	1077	3	0	0	3	0.00139082	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.0144080676915	.	0.000199681	2.471e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs565775882	1.686e-05	1.984e-05	6.985e-06	2.684e-05	0.0003	1.14e-05	9.58e-06	0.0002	0.0002	0	0	0	0	0	0	0	5.08e-05	0.0003	1.314e-05	1.313e-05	1.285e-05	1.343e-05	0.0004	2.18e-06	8.2e-07	7.304e-05	3.034e-05	0	0	0	0	0	0	0	0	0	0.0004	0.375	0.11370	T	0.379	0.16037	T	0.605	0.39444	P	0.108	0.31289	B	0.008571	0.30776	N	0.386403	0.54228	0.32064	D	2.19	0.61577	M	0.76	0.49919	T	-2.21	0.49684	N	0.316	0.35620	-0.8737	0.50249	T	0.114	0.40605	T	10	0.095507056	0.17063	T	0.014408	0.34508	T	0.100	0.28662	0.298	0.26362	0.572793788404	0.56946	0.42364972184025196	0.42281	0.088865395034	0.10049	0.331459969282	0.15156	T	0.178242	0.52882	T	-0.38506	0.02893	T	-0.49874	0.22479	T	0.175159607195467	0.18924	T	0.751225	0.37284	T	0.10493035	0.24806	0.12704834	0.30589	0.10493035	0.24806	0.12704834	0.30589	-4.697	0.33367	T	.	.	0.098	0.16363	B	.	.	2.262584	0.28910	17.95	0.96672887928537254	0.30672	0.88008	0.47752	D	AEFDI	0.316261	0.42060	N	-0.0181044007145572	0.41036	2.447482	0.0115327084295308	0.40250	2.399088	1.00632612411498E-5	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.64	2.7	0.31007	2.932000	0.48633	3.796000	0.39849	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0687:0.0:0.6689:0.2624	9.162	0.36189	946	0.12043	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	345.63	22	chr10	15531075	.	G	C	345.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.472;DP=188;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.71;ReadPosRankSum=-0.212;SOR=0.593	GT:AD:DP:GQ:PL	0/1:7,15:22:99:356,0,123	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	0/1:39,17:56:31:31,0,653	2	0	5	0
chr10	22209387	22209387	T	A	exonic	EBLN1	.	nonsynonymous SNV	EBLN1:NM_001199938:exon1:c.A597T:p.R199S	.	421	1090	11	0	0	11	0.00502054	.	.	.	3667192	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	0.0117810021079	.	.	1.775e-05	0	0	0	0	1.621e-05	0	6.219e-05	1.29e-05	2	154602	rs745332913	2.065e-05	2.052e-05	1.781e-05	2.351e-05	0.0003	1.465e-05	1.271e-05	6.094e-05	4.042e-05	0	2.236e-05	0	0	0	0.0003	1.259e-05	6.632e-05	0.0001	3.938e-05	3.937e-05	2.569e-05	5.37e-05	0.0004	1.714e-05	1.128e-05	7.296e-05	3.031e-05	0	0	0	0	0	0	0	5.88e-05	0	0.0004	.	.	.	0.025	0.56192	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.695	0.17993	N	.	.	.	.	.	.	0.26	0.29429	.	.	.	.	.	.	.	0.09687188	0.17407	T	0.011781	0.29743	T	.	.	.	.	0.112648838833	0.10856	0.29592092594893377	0.29505	1.35774008343	0.84223	0.381962537766	0.22535	T	0.050999	0.28754	T	-0.0479331	0.44761	T	-0.205999	0.54076	T	.	.	.	0.443756	0.12347	T	0.31437427	0.54162	0.3867374	0.63559	0.31437427	0.54162	0.3867374	0.63559	-3.158	0.11975	T	.	.	0.488	0.64039	A	.	.	2.059502	0.26183	17.03	0.86006770010578037	0.16253	0.00787	0.03223	N	AEFBI	0.036251	0.04802	N	.	.	.	.	.	.	1.53552691366679E-5	0.02871	0.080785	0.02172	0	0.063388	0.01293	0	0.060301	0.00762	0	0.10565	0.03146	0	.	.	0.51	0.51	0.16183	-0.083000	0.11250	-0.718000	0.07718	0.366000	0.20181	0.063000	0.21864	0.000000	0.08366	0.731000	0.35132	.	.	.	645	0.63593	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1203.44	121	chr10	22209387	.	T	A	1203.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.441;DP=756;ExcessHet=0;FS=0.689;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.95;ReadPosRankSum=0.277;SOR=0.818	GT:AD:DP:GQ:PL	0/1:72,49:121:99:1214,0,1990	6	0	1	0
chr10	25175986	25175986	A	T	exonic	GPR158	.	nonsynonymous SNV	GPR158:NM_020752:exon1:c.A566T:p.Q189L	.	430	1077	15	0	0	15	0.00691563	.	.	.	2343387	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.521	0.0808331269464	.	.	4.423e-05	0	0.0002	0	0	4.828e-05	0	0	4.53e-05	7	154602	rs535710420	4.107e-05	4.104e-05	3.541e-05	4.678e-05	0.0016	3.246e-05	2.921e-05	0.0008	0.0006	0	2.237e-05	0	0	0	0.0016	3.597e-05	9.938e-05	4.638e-05	4.603e-05	4.597e-05	3.857e-05	5.385e-05	0.0001	2.111e-05	1.528e-05	2.262e-05	9.08e-06	4.83e-05	0	0.0001	0	0	0	0	4.411e-05	0	0	0.045	0.40832	D	0.096	0.39340	T	0.454	0.36182	P	0.235	0.38432	B	0.000860	0.41440	D	0.160748	0.923997	0.36762	D	1.82	0.47800	L	-1.22	0.78752	T	-3.43	0.67359	D	0.486	0.52029	-0.1522	0.78862	T	0.389	0.74327	T	10	0.3945284	0.55130	T	0.080833	0.73548	D	0.521	0.79643	0.406	0.43902	0.753747480567	0.75152	0.6541067579616479	0.65346	0.865643695533	0.69194	0.382573723793	0.22622	T	0.162381	0.50702	T	0.052716	0.58692	T	0.0137932	0.71228	D	0.792173862457275	0.45832	D	0.743426	0.36851	T	0.48440534	0.66166	0.5653129	0.74840	0.48440534	0.66167	0.5653129	0.74841	-2.854	0.08691	T	.	.	0.111	0.22789	B	.;.	.;.	2.701488	0.35291	19.86	0.98752928503465109	0.45694	0.19884	0.20832	N	AEFDBHCIJ	0.421155	0.48769	N	0.138520089536652	0.48268	3.041307	0.21928645701698	0.50919	3.278974	0.997588130521891	0.35786	0.443343	0.08805	1	0.563428	0.19063	0	0.666236	0.60216	0	0.530356	0.10902	0	.	.	4.77	4.77	0.60425	2.130000	0.41687	6.851000	0.56739	0.686000	0.82685	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	14.457	0.67002	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	0.001038	0.000000	0.001359	0.000000	0.000000	0.008621	0.000000	0.000000	0.07143	360.83	42	chr10	25175986	.	A	T	360.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.805;DP=250;ExcessHet=0;FS=3.144;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.59;ReadPosRankSum=-0.118;SOR=1.368	GT:AD:DP:GQ:PL	0/1:27,15:42:99:371,0,800	6	0	1	0
chr10	27186516	27186516	G	A	exonic	MASTL	.	nonsynonymous SNV	MASTL:NM_001172304:exon11:c.G2503A:p.V835I,MASTL:NM_001172303:exon12:c.G2620A:p.V874I,MASTL:NM_032844:exon12:c.G2617A:p.V873I,MASTL:NM_001320756:exon13:c.G2632A:p.V878I,MASTL:NM_001320757:exon13:c.G2635A:p.V879I,MASTL:NM_001372030:exon13:c.G2137A:p.V713I,MASTL:NM_001372029:exon14:c.G2152A:p.V718I	.	0	1473	47	2	0	51	0.017017	.	.	.	712315	Thrombocytopenia_2|Thrombocytopenia|not_provided	MONDO:MONDO:0008555,MedGen:C1861185,OMIM:188000,Orphanet:268322|Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.078	0.00997056963759	0.0037	0.00139776	0.0044	0.0013	0.0016	0.0001	0.0002	0.0055	0.0077	0.0075	0.0040491	626	154602	rs138288481	0.0048	0.0048	0.0048	0.0049	0.0072	0.0047	0.0047	0.0067	0.0065	0.0012	0.0019	0.0121	2.52e-05	0.0002	0.0061	0.0050	0.0058	0.0072	0.0036	0.0036	0.0036	0.0035	0.0077	0.0033	0.0032	0.0057	0.0050	0.0011	0.0022	0.0033	0.0136	0	0.0004	0.0102	0.0051	0.0028	0.0077	0.203	0.20154	T	0.171	0.30339	T	0.011	0.20130	B	0.016	0.20792	B	0.000006	0.62929	N	0.106801	0.996275	0.45878	D	1.53	0.38800	L	-0.28	0.67543	T	-0.34	0.13805	N	0.061	0.08366	-0.9986	0.30311	T	0.126	0.43112	T	10	0.0049705505	0.00107	T	0.009971	0.25946	T	0.078	0.22779	.	.	0.371531589858	0.36766	0.1272268554561651	0.12648	0.0910169347132	0.10278	0.316755950451	0.12930	T	0.006687	0.06116	T	-0.498078	0.00586	T	-0.483104	0.24118	T	0.00412092111472847	0.00044	T	0.812919	0.48860	T	0.019913116	0.00533	0.0360601	0.02977	0.019913116	0.00532	0.0360601	0.02977	-5.82	0.52231	T	.	.	0.073	0.07697	B	.;.;.;.	.;.;.;.	1.094405	0.14780	11.32	0.95402752632936616	0.26857	0.91252	0.53159	D	AEFBI	0.103222	0.20687	N	-0.449366988897339	0.23761	1.278292	-0.341345716934986	0.26776	1.481296	0.146633193900005	0.17370	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.63	2.79	0.31792	2.239000	0.42728	0.193000	0.15765	0.656000	0.54149	0.995000	0.38783	0.001000	0.17328	0.935000	0.47363	0.2174:0.0:0.7826:0.0	10.103	0.41688	804	0.43891	.;AGC-kinase, C-terminal;.;AGC-kinase, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007553	0.000000	0.009511	0.005848	0.000000	0.008621	0.006098	0.011364	0.07143	1542.44	97	chr10	27186516	.	G	A	1542.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.154;DP=353;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.9;ReadPosRankSum=0.055;SOR=0.65	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:56,41:97:99:0|1:27186515_T_C:1553,0,2228:27186515	6	0	1	0
chr10	38118296	38118296	C	T	exonic	ZNF37A	.	nonsynonymous SNV	ZNF37A:NM_001178101:exon7:c.C1145T:p.P382L,ZNF37A:NM_001324245:exon7:c.C1145T:p.P382L,ZNF37A:NM_001324248:exon7:c.C1145T:p.P382L,ZNF37A:NM_001324249:exon7:c.C1145T:p.P382L,ZNF37A:NM_003421:exon7:c.C1145T:p.P382L,ZNF37A:NM_001007094:exon8:c.C1145T:p.P382L,ZNF37A:NM_001324246:exon8:c.C1145T:p.P382L,ZNF37A:NM_001324247:exon8:c.C1145T:p.P382L,ZNF37A:NM_001324250:exon8:c.C1145T:p.P382L,ZNF37A:NM_001324251:exon8:c.C1145T:p.P382L	.	360	1159	3	0	0	3	0.00129255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.00825195143562	0.0002	.	0.0002	0	8.729e-05	0	0	0.0003	0	0	0.0001746	27	154602	rs144692082	0.0002	0.0002	0.0002	0.0002	0.0010	0.0002	0.0002	0.0005	0.0003	2.987e-05	0.0001	0.0044	0	0	0.0010	9.533e-05	0.0004	1.159e-05	0.0001	0.0001	0.0001	0.0001	0.0001	8.178e-05	6.733e-05	7.911e-05	5.995e-05	0	0	0	0.0026	0	0	0	0.0001	0	0	0.089	0.32141	T	0.001	0.83351	D	0.999	0.77913	D	0.945	0.68163	D	.	.	.	.	0.999958	0.52396	D	1.885	0.50048	L	2.3	0.16953	T	-9.32	0.98325	D	0.334	0.41557	-1.0073	0.27758	T	0.096	0.36212	T	9	0.02379316	0.00633	T	0.008252	0.21853	T	0.179	0.44899	.	.	0.470566500458	0.46685	0.027418515205411643	0.02691	0.246365629491	0.27172	0.535627365112	0.43828	T	0.224974	0.58956	T	-0.332684	0.05910	T	-0.478986	0.24554	T	0.238298472264351	0.22341	T	0.814119	0.46793	T	0.23060979	0.45819	0.22447468	0.47361	0.23060979	0.45819	0.22447468	0.47360	-6.248	0.48309	T	.	.	0.595	0.68653	P	.;.	.;.	3.170401	0.42994	21.6	0.99767415732186149	0.85583	0.00118	0.00744	N	AEFDGBHCI	0.180764	0.30808	N	0.3574590975419	0.59135	4.090415	0.190067422369993	0.49300	3.135003	0.996698404426944	0.34934	0.719381	0.83141	0	0.723133	0.82719	0	0.602189	0.34648	0	0.674467	0.66132	0	.	.	1.6	1.6	0.22686	4.496000	0.60081	1.872000	0.29394	0.544000	0.25403	0.982000	0.35529	0.006000	0.19429	0.993000	0.69303	0.0:1.0:0.0:0.0	9.175	0.36266	568	0.70638	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	539.49	55	chr10	38118296	.	C	T	539.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.164;DP=228;ExcessHet=0;FS=1.038;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.81;ReadPosRankSum=0.657;SOR=0.675	GT:AD:DP:GQ:PL	0/1:32,23:55:99:550,0,840	6	0	1	0
chr10	45750790	45750790	G	A	exonic	WASHC2C	.	nonsynonymous SNV	WASHC2C:NM_001367404:exon8:c.G724A:p.A242T,WASHC2C:NM_001169106:exon10:c.G883A:p.A295T,WASHC2C:NM_001169107:exon10:c.G883A:p.A295T,WASHC2C:NM_001330074:exon10:c.G883A:p.A295T,WASHC2C:NM_001367393:exon10:c.G877A:p.A293T,WASHC2C:NM_001367394:exon10:c.G883A:p.A295T,WASHC2C:NM_001367395:exon10:c.G883A:p.A295T,WASHC2C:NM_001367396:exon10:c.G883A:p.A295T,WASHC2C:NM_001367397:exon10:c.G883A:p.A295T,WASHC2C:NM_001367399:exon10:c.G619A:p.A207T,WASHC2C:NM_001367400:exon10:c.G883A:p.A295T,WASHC2C:NM_001367401:exon10:c.G883A:p.A295T,WASHC2C:NM_001367403:exon10:c.G883A:p.A295T,WASHC2C:NM_001367408:exon10:c.G883A:p.A295T,WASHC2C:NM_001367409:exon10:c.G622A:p.A208T,WASHC2C:NM_001367410:exon10:c.G619A:p.A207T,WASHC2C:NM_001367411:exon10:c.G622A:p.A208T,WASHC2C:NM_001367413:exon10:c.G622A:p.A208T,WASHC2C:NM_001367415:exon10:c.G883A:p.A295T,WASHC2C:NM_001367416:exon10:c.G883A:p.A295T,WASHC2C:NM_015262:exon10:c.G883A:p.A295T,WASHC2C:NM_001367398:exon11:c.G304A:p.A102T,WASHC2C:NM_001367402:exon11:c.G304A:p.A102T,WASHC2C:NM_001367405:exon11:c.G304A:p.A102T,WASHC2C:NM_001367412:exon11:c.G304A:p.A102T,WASHC2C:NM_001367414:exon11:c.G304A:p.A102T,WASHC2C:NM_001367407:exon12:c.G304A:p.A102T	.	.	.	.	.	.	.	.	.	.	.	2813118	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.513	.	0.0054	0.000599042	0.0067	0.0020	0	0	0	0.0138	0.0158	0.0008	0.0020957	324	154602	rs201469599	0.0080	0.0078	0.0081	0.0079	0.0090	0.0079	0.0078	0.0089	0.0088	0.0010	0.0050	0.0233	0	0.0024	0.0044	0.0090	0.0081	0.0007	0.0063	0.0063	0.0068	0.0059	0.0090	0.0060	0.0059	0.0084	0.0082	0.0016	0.0406	0.0078	0.0262	0	0.0018	0.0068	0.0090	0.0062	0	0.003	0.72154	D	0.103	0.64786	T	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999977	0.58761	D	.	.	.	.	.	.	-3.07	0.68532	D	0.611	0.71410	-0.1404	0.79155	T	0.357	0.71990	T	9	0.009589434	0.00216	T	.	.	.	0.513	0.79156	.	.	0.130388298395	0.12655	0.1962043558718438	0.19537	.	.	0.530121564865	0.43051	T	0.316132	0.68769	T	-0.281439	0.10517	T	-0.170221	0.57423	T	0.0123708766637559	0.00202	T	0.974003	0.91859	D	0.45980605	0.64659	0.54810864	0.73875	0.45980605	0.64659	0.54810864	0.73876	-10.169	0.75418	D	.	.	0.287	0.52598	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.458819	0.69381	25.4	0.99911841541122759	0.98095	0.97001	0.72119	D	AEFDI	0.389477	0.46868	N	0.59709362682998	0.72992	5.893946	0.457069238267977	0.65172	4.790378	0.0142693496000148	0.12574	0.706548	0.73137	0	0.643519	0.57511	0	0.786243	0.99158	0	0.714379	0.83352	0	.	.	3.75	3.75	0.42236	7.264000	0.77831	9.924000	0.82528	0.473000	0.21965	1.000000	0.71638	1.000000	0.68203	0.331000	0.25224	0.0:0.0:1.0:0.0	13.428	0.60486	770	0.49152	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004348	0.000000	0.004412	0.000000	0.000000	0.000000	0.011628	0.000000	0.08333	80.3	10	chr10	45750790	.	G	A	80.3	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.03;DP=75;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=54.07;MQRankSum=-0.21;QD=8.03;ReadPosRankSum=0.096;SOR=0.307	GT:AD:DP:GQ:PL	0/1:6,4:10:90:90,0,153	5	0	1	1
chr10	45828081	45828081	C	G	splicing	AGAP4	NM_001291379:exon9:c.210-1G>C;NM_001276343:exon7:c.534-1G>C;NM_133446:exon6:c.465-1G>C	.	.	.	705	795	11	11	0	33	0.0203327	1.0000	0.672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1259220018	0.0090	0.0077	0.0082	0.0097	0.0262	0.0088	0.0087	0.0205	0.0186	0.0012	0.0068	0.0048	9.438e-05	0.0119	0.0262	0.0086	0.0075	0.0201	0.0062	0.0065	0.0062	0.0061	0.0121	0.0058	0.0057	0.0095	0.0086	0.0011	0.0146	0.0075	0.0042	0.0004	0.0112	0.0360	0.0081	0.0073	0.0121	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0721765	0.40978	T	-0.341453	0.40179	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	5.993006	0.94285	34	0.85737994814547802	0.16081	0.86269	0.45516	D	AEFI	.	.	.	0.551673247133502	0.70185	5.464414	0.239839142706968	0.52072	3.384739	4.27802207330989E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.063197	0.01477	0	0.101684	0.03063	0	0.185915	0.29733	1.68	1.68	0.23219	3.803000	0.55264	5.199000	0.47926	0.270000	0.18506	1.000000	0.71638	1.000000	0.68203	0.087000	0.17632	0.0:1.0:0.0:0.0	6.854	0.23214	751	0.51694	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	161.4	10	chr10	45828081	.	C	G	161.4	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.454;DP=91;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=32.38;MQRankSum=0.742;QD=16.14;ReadPosRankSum=-1.001;SOR=0.223	GT:AD:DP:GQ:PL	0/1:3,7:10:61:171,0,61	5	0	1	1
chr10	54213995	54213995	G	A	exonic	PCDH15	.	nonsynonymous SNV	PCDH15:NM_001142767:exon9:c.C928T:p.L310F,PCDH15:NM_001142768:exon9:c.C973T:p.L325F,PCDH15:NM_001142773:exon9:c.C973T:p.L325F,PCDH15:NM_001142764:exon10:c.C1039T:p.L347F,PCDH15:NM_001142765:exon10:c.C1039T:p.L347F,PCDH15:NM_001142766:exon10:c.C1039T:p.L347F,PCDH15:NM_001354411:exon10:c.C1039T:p.L347F,PCDH15:NM_001354420:exon10:c.C1039T:p.L347F,PCDH15:NM_001354429:exon10:c.C1039T:p.L347F,PCDH15:NM_001354430:exon10:c.C1039T:p.L347F,PCDH15:NM_001384140:exon10:c.C1039T:p.L347F,PCDH15:NM_033056:exon10:c.C1039T:p.L347F,PCDH15:NM_001142763:exon11:c.C1054T:p.L352F,PCDH15:NM_001354404:exon12:c.C973T:p.L325F	Deafness, autosomal recessive 23, Autosomal recessive;Usher syndrome, type 1D/F digenic, Autosomal recessive, Digenic recessive;Usher syndrome, type 1F, Autosomal recessive	3	1495	24	0	0	24	0.00796284	.	.	.	55599	not_specified|Usher_syndrome_type_1|not_provided|Usher_syndrome_type_1F	MedGen:CN169374|MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:231169,Orphanet:886|MedGen:C3661900|MONDO:MONDO:0011186,MedGen:C1865885,OMIM:602083,Orphanet:231169,Orphanet:886	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.254	0.0477581669201	0.0035	0.00119808	0.0036	0.0006	0.0018	0	0.0009	0.0053	0.0033	0.0028	0.0035575	550	154602	rs111033436	0.0041	0.0041	0.0039	0.0042	0.0050	0.0040	0.0039	0.0042	0.0041	0.0007	0.0020	0.0168	0	0.0010	0.0050	0.0043	0.0045	0.0030	0.0032	0.0032	0.0033	0.0030	0.0046	0.0029	0.0028	0.0042	0.0040	0.0008	0.0110	0.0029	0.0161	0	0.0004	0.0034	0.0046	0.0043	0.0027	0.002	0.72154	D	0.0	0.92824	D	0.997	0.90584	D	0.964	0.88582	D	.	.	.	.	1	0.81001	D	2.615	0.76484	M	0.43	0.56772	T	-2.87	0.62518	D	0.807	0.87481	-0.3166	0.74517	T	0.307	0.67740	T	9	0.0059919655	0.00134	T	0.047758	0.63066	D	0.254	0.56428	.	.	0.705405603352	0.70284	0.6460078611123972	0.64535	0.21467462913	0.24008	0.611727297306	0.54561	T	0.124994	0.82072	T	-0.257932	0.13143	T	-0.140943	0.60036	T	0.0103998413265441	0.00143	T	0.944805	0.79334	D	0.4974293	0.66944	0.3812635	0.63140	0.50377804	0.67317	0.36944348	0.62214	-11.315	0.81932	D	0.6398601033422839	0.71041	0.504	0.74312	A	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.742781	0.76508	26.5	0.99903023584850525	0.97426	0.94803	0.62383	D	AEFDI	0.849311	0.76613	D	0.798106157721513	0.85986	8.743229	0.752945161623409	0.86377	8.869651	0.499505483150631	0.20930	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.99	4.99	0.65942	7.139000	0.76905	9.765000	0.81528	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	18.206	0.89790	894	0.26265	Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;.;Cadherin-like|Cadherin-like;.;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like;Cadherin-like|Cadherin-like;.;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.005035	0.010101	0.001359	0.005848	0.000000	0.000000	0.006098	0.007576	0.1429	710.25	43	chr10	54213995	.	G	A	710.25	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.12;DP=219;ExcessHet=0.3476;FS=1.968;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=9.86;ReadPosRankSum=-0.423;SOR=0.667	GT:AD:DP:GQ:PL	0/1:26,17:43:99:436,0,607	5	0	2	0
chr10	60076361	60076361	G	A	exonic	ANK3	.	nonsynonymous SNV	ANK3:NM_020987:exon37:c.C4520T:p.T1507I	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.316	0.0241909512726	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	.	.	.	0.993	0.65571	D	0.738	0.55619	P	0.000573	0.43250	D	0.000000	0.998229	0.81001	D	1.7	0.43825	L	-0.23	0.66652	T	-1.94	0.45042	N	0.733	0.73375	-0.2689	0.75841	T	0.393	0.74619	T	10	0.7431318	0.75099	D	0.024191	0.47175	T	0.316	0.63799	0.361	0.36548	0.716686645318	0.71419	0.537031922882868	0.53628	0.634878381221	0.57326	0.682146191597	0.64577	T	0.290587	0.66336	T	0.153816	0.69625	D	-0.016831	0.69238	D	0.976152420043945	0.71252	D	0.927907	0.73422	D	0.3067246	0.53501	0.52223384	0.72397	0.3067246	0.53501	0.52223384	0.72398	-4.8	0.34591	T	0.1549353684652172	0.18537	0.208	0.43435	B	.	.	4.433577	0.68776	25.3	0.99871823505018165	0.94902	0.99083	0.90974	D	AEFDBI	0.923243	0.89941	D	0.803117354773635	0.86301	8.841422	0.838469583293644	0.92325	11.36168	0.999999999999681	0.74766	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.87	5.87	0.94266	9.602000	0.97623	11.837000	0.97708	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	20.201	0.98260	732	0.54084	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1042.27	62	chr10	60076361	.	G	A	1042.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.287;DP=234;ExcessHet=0;FS=3.875;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.81;ReadPosRankSum=-0.275;SOR=1.368	GT:AD:DP:GQ:PL	0/1:21,41:62:99:1052,0,440	5	0	1	1
chr10	68884949	68884949	G	A	exonic	STOX1	.	nonsynonymous SNV	STOX1:NM_001130161:exon3:c.G1153A:p.E385K,STOX1:NM_152709:exon3:c.G1153A:p.E385K	Preeclampsia/eclampsia 4	0	1509	12	1	0	14	0.00461741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.566	.	0.0002	0.00998403	0.0058	0.0002	0.0002	0.0002	0	0.0003	0.0022	0.0406	0.0050646	783	154602	rs200117499	0.0025	0.0025	0.0015	0.0036	0.0380	0.0025	0.0024	0.0369	0.0365	0.0005	8.944e-05	0.0032	2.519e-05	0	0.0026	0.0001	0.0031	0.0380	0.0014	0.0014	0.0007	0.0021	0.0363	0.0012	0.0011	0.0319	0.0302	0.0001	0	0.0001	0.0020	0.0002	0	0	0.0002	0.0009	0.0363	0.006	0.61437	D	0.0	0.92824	D	0.999	0.77913	D	0.826	0.59373	P	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	3.21	0.89262	M	-1.62	0.82347	D	-3.03	0.62747	D	0.573	0.59563	0.591	0.91785	D	0.740	0.91123	D	10	0.007938951	0.00180	T	.	.	.	0.566	0.82289	.	.	0.838516671336	0.83697	0.5094777767590273	0.50869	0.392926069305	0.40471	0.489928007126	0.37428	T	0.217738	0.58026	T	-0.199982	0.20807	T	-0.0314683	0.68270	D	0.134576356795939	0.15798	T	0.857914	0.54791	D	0.47448382	0.65565	0.36013976	0.61461	0.5035106	0.67302	0.36013976	0.61461	-6.363	0.49220	T	0.77365992344935	0.85439	0.132	0.45086	B	.;.;.	.;.;.	3.992822	0.58778	24.0	0.9990849136747314	0.97875	0.99788	0.99470	D	AEFBI	0.905740	0.85763	D	0.796221694347726	0.85869	8.706829	0.749981216235556	0.86154	8.799867	0.999999999243709	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.608075	0.38828	0	0.542086	0.14980	0	.	.	5.72	5.72	0.89380	9.765000	0.98142	9.751000	0.81472	-0.167000	0.11441	1.000000	0.71638	1.000000	0.68203	0.112000	0.18829	0.0:0.0:1.0:0.0	19.875	0.96865	676	0.60355	.;.;.	.	.	.	.	.	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	0.006042	0.000000	0.008152	0.005848	0.000000	0.000000	0.000000	0.003788	0.07143	931.53	70	chr10	68884949	.	G	A	931.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.862;DP=249;ExcessHet=0;FS=0.918;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.31;ReadPosRankSum=1.24;SOR=0.687	GT:AD:DP:GQ:PL	0/1:30,40:70:99:942,0,670	6	0	1	0
chr10	70598831	70598831	C	T	exonic	PRF1	.	nonsynonymous SNV	PRF1:NM_001083116:exon3:c.G890A:p.R297Q,PRF1:NM_005041:exon3:c.G890A:p.R297Q	Aplastic anemia;Hemophagocytic lymphohistiocytosis, familial, 2, Autosomal recessive;Lymphoma, non-Hodgkin	.	.	.	.	.	.	.	.	.	YES	1902872	PRF1-related_disorder|Familial_hemophagocytic_lymphohistiocytosis_2	.|MONDO:MONDO:0011337,MedGen:C1863727,OMIM:603553,Orphanet:540	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.051	0.0329628230551	.	.	8.237e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs752189303	1.3e-05	1.3e-05	9.528e-06	1.65e-05	5.038e-05	8.31e-06	6.7e-06	1.583e-05	9.3e-06	2.987e-05	2.236e-05	0	5.038e-05	0	0	8.993e-06	1.656e-05	4.637e-05	6.57e-06	6.566e-06	1.285e-05	0	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.273	0.15876	T	0.313	0.19539	T	0.032	0.20242	B	0.005	0.11217	B	0.905422	0.07382	N	1.054840	1	0.08975	N	0.945	0.23706	L	-1.77	0.83660	D	-0.12	0.08809	N	0.057	0.02861	-0.8766	0.50028	T	0.288	0.65978	T	10	0.054711044	0.05868	T	0.032963	0.54648	D	0.051	0.14325	0.419	0.46036	0.350088858571	0.34617	0.35149233808561636	0.35063	0.128085177085	0.14442	0.225293263793	0.01639	T	0.168583	0.51564	T	-0.330451	0.06078	T	-0.543318	0.17972	T	0.0631143823266029	0.07649	T	0.746125	0.36682	T	0.07083218	0.15635	0.06784718	0.14092	0.07083218	0.15634	0.06784718	0.14091	-3.747	0.20015	T	0.17804030954395358	0.22800	0.077	0.06617	B	.;.	.;.	0.283614	0.06604	3.096	0.94831282458705324	0.25611	0.07310	0.13332	N	AEFDGBCI	0.099815	0.20084	N	-1.35433632726016	0.03080	0.1370383	-1.39988137727253	0.03253	0.1514072	0.999999663118515	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.615948	0.41167	0	0.542086	0.14980	0	.	.	5.83	-4.42	0.03329	-1.290000	0.02886	-7.352000	0.01175	0.530000	0.24713	0.000000	0.06391	0.000000	0.08366	0.301000	0.24523	0.0:0.2677:0.1129:0.6194	9.165	0.36207	486	0.77016	Membrane attack complex component/perforin (MACPF) domain|Membrane attack complex component/perforin (MACPF) domain|Membrane attack complex component/perforin (MACPF) domain;Membrane attack complex component/perforin (MACPF) domain|Membrane attack complex component/perforin (MACPF) domain|Membrane attack complex component/perforin (MACPF) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1167.46	104	chr10	70598831	.	C	T	1167.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.52;DP=333;ExcessHet=0;FS=0.754;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.23;ReadPosRankSum=0.101;SOR=0.804	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:58,46:104:99:1|0:70598821_G_A:1178,0,2238:70598821	6	0	1	0
chr10	80164097	80164097	C	T	exonic	ANXA11	.	nonsynonymous SNV	ANXA11:NM_001157:exon8:c.G905A:p.R302H,ANXA11:NM_145868:exon9:c.G905A:p.R302H,ANXA11:NM_001278407:exon10:c.G905A:p.R302H,ANXA11:NM_001278408:exon10:c.G905A:p.R302H,ANXA11:NM_001278409:exon10:c.G806A:p.R269H,ANXA11:NM_145869:exon10:c.G905A:p.R302H	.	395	1121	6	0	0	6	0.00266904	.	.	.	1658875	not_provided|Amyotrophic_lateral_sclerosis_type_23|ANXA11-related_disorder	MedGen:C3661900|MONDO:MONDO:0027694,MedGen:C4693381,OMIM:617839|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.668	0.0493780921389	7.7e-05	0.00159744	0.0006	0.0007	0	0	0	3e-05	0	0.0038	0.0005304	82	154602	rs140133265	0.0003	0.0003	0.0002	0.0005	0.0040	0.0003	0.0003	0.0037	0.0035	0.0006	0.0001	0	0.0001	0	0.0012	7.914e-05	0.0004	0.0040	0.0003	0.0003	0.0003	0.0003	0.0041	0.0002	0.0002	0.0027	0.0023	0.0002	0	0.0001	0	0	0	0	0.0001	0.0005	0.0041	0.002	0.72154	D	0.005	0.76473	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	3.625	0.93960	H	2.65	0.12676	T	-4.55	0.78553	D	0.952	0.96187	-0.7329	0.58817	T	0.140	0.45828	T	10	0.0721657	0.10736	T	0.049378	0.63785	D	0.668	0.87674	.	.	0.873778278703	0.87255	0.8349654166634419	0.83455	0.409613746433	0.41775	0.588570654392	0.51293	T	0.187453	0.54106	T	-0.0621109	0.42577	T	0.138135	0.79424	D	0.148524063628641	0.16985	T	0.973403	0.90433	D	0.6264487	0.74109	0.51792556	0.72147	0.6646608	0.76149	0.50552297	0.71420	-12.069	0.85185	D	.	.	0.752	0.75123	P	.;.;.;.	.;.;.;.	6.311832	0.94994	34	0.99940386774845802	0.99767	0.88949	0.49131	D	AEFDGBHCI	0.942933	0.94813	D	0.845420695383476	0.88844	9.734498	0.76115552842074	0.86990	9.069395	0.999999999999914	0.74766	0.722319	0.85440	0	0.702456	0.74545	0	0.709663	0.75317	0	0.735409	0.98432	0	.	.	5.47	4.56	0.55644	7.798000	0.84489	7.651000	0.63703	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.1552:0.8448:0.0:0.0	13.749	0.62377	933	0.16026	Annexin repeat, conserved site;Annexin repeat, conserved site;.;Annexin repeat, conserved site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	574.53	64	chr10	80164097	.	C	T	574.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.439;DP=292;ExcessHet=0;FS=0.966;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.98;ReadPosRankSum=0.524;SOR=0.633	GT:AD:DP:GQ:PL	0/1:37,27:64:99:585,0,873	6	0	1	0
chr10	84225438	84225438	C	T	exonic	LRIT2	.	nonsynonymous SNV	LRIT2:NM_001017924:exon1:c.G83A:p.C28Y,LRIT2:NM_001284223:exon1:c.G83A:p.C28Y	.	438	1076	8	0	0	8	0.0037037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.572	.	0.0009	0.00219649	0.0036	0.0007	0.0003	0.0001	0.0238	0.0021	0.0044	0.0071	0.0030659	474	154602	rs12773843	0.0028	0.0028	0.0026	0.0031	0.0082	0.0028	0.0027	0.0077	0.0075	0.0002	0.0002	0.0012	0	0.0261	0.0031	0.0017	0.0025	0.0082	0.0035	0.0035	0.0023	0.0047	0.0075	0.0032	0.0031	0.0055	0.0049	0.0004	0	0.0008	0.0023	0.0004	0.0294	0	0.0021	0.0005	0.0075	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000246	0.46924	D	0.138116	0.993	0.41837	D	2.93	0.84523	M	-1.08	0.77078	T	-8.87	0.97888	D	0.905	0.97317	0.243	0.86630	D	0.543	0.83189	D	10	0.01376605	0.00291	T	.	.	.	0.572	0.82629	.	.	0.548358248517	0.54491	0.9137211227259994	0.91347	0.0199805071901	0.01959	0.361757427454	0.19642	T	0.448833	0.79056	T	0.0209351	0.54508	T	0.262001	0.86187	D	0.058448079270231	0.06923	T	0.745225	0.36553	T	0.9125238	0.92531	0.9152269	0.96060	0.9125238	0.92532	0.9152269	0.96061	-7.12	0.55925	T	.	.	0.465	0.66923	A	.;.	.;.	3.635853	0.51531	23.1	0.99613662772724509	0.74992	0.84372	0.43454	D	AEFGBCI	0.347894	0.44221	N	0.412623189444408	0.62115	4.422271	0.298064421179868	0.55428	3.705682	0.0222135252342156	0.13413	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.87	3.98	0.45383	3.442000	0.52663	2.158000	0.30961	0.599000	0.40250	1.000000	0.71638	0.975000	0.29991	0.958000	0.51230	0.0:0.7373:0.2627:0.0	15.518	0.75572	930	0.16408	.;Proteinase inhibitor I2, Kunitz, 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	0.003021	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.018939	0.07143	637.63	48	chr10	84225438	.	C	T	637.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.322;DP=221;ExcessHet=0;FS=1.148;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.28;ReadPosRankSum=-0.29;SOR=0.976	GT:AD:DP:GQ:PL	0/1:22,26:48:99:648,0,497	6	0	1	0
chr10	95684564	95684564	C	T	exonic	TCTN3	.	nonsynonymous SNV	TCTN3:NM_015631:exon9:c.G1030A:p.G344R	Joubert syndrome 18, Autosomal recessive;Orofaciodigital syndrome IV, Autosomal recessive	8	1407	104	3	0	110	0.0376197	.	.	.	207805	not_specified|Orofacial-digital_syndrome_IV|Joubert_syndrome_18|not_provided	MedGen:CN169374|MONDO:MONDO:0009794,MedGen:C0406727,OMIM:258860,Orphanet:2753|MONDO:MONDO:0013896,MedGen:C3553758,OMIM:614815,Orphanet:2754|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.375	.	0.0049	0.00359425	0.0072	0.0012	0.0033	0.0002	0.0070	0.0074	0.0066	0.0167	0.0067464	1043	154602	rs141088838	0.0065	0.0065	0.0062	0.0068	0.0152	0.0064	0.0064	0.0146	0.0143	0.0022	0.0037	0.0099	5.04e-05	0.0096	0.0151	0.0060	0.0074	0.0152	0.0045	0.0045	0.0048	0.0043	0.0133	0.0043	0.0041	0.0107	0.0097	0.0016	0.0088	0.0029	0.0069	0.0006	0.0057	0.0204	0.0059	0.0057	0.0133	0.484	0.08140	T	0.618	0.07741	T	0.006	0.16265	B	0.011	0.15521	B	0.248852	0.03633	N	1.421560	1	0.08975	N	0.675	0.16386	N	-1.51	0.81399	D	-1.25	0.31576	N	0.278	0.32370	-1.0118	0.26353	T	0.056	0.23677	T	10	0.009601146	0.00216	T	.	.	.	0.375	0.69358	0.476	0.55342	0.790772292906	0.78882	0.5454035550696645	0.54466	0.13614919438	0.15352	0.240530341864	0.02838	T	0.163459	0.50852	T	-0.328064	0.06259	T	-0.231693	0.51608	T	0.00183713152993083	0.00019	T	0.687031	0.29593	T	0.049764294	0.08885	0.06339117	0.12551	0.050919995	0.09274	0.058357354	0.10769	-3.4	0.18759	T	0.06951102923013433	0.02612	0.079	0.12750	B	.;.;.;.	.;.;.;.	0.943955	0.13196	9.698	0.79239687288419069	0.12652	0.02608	0.07182	N	AEFBI	0.040571	0.06054	N	-0.568814744440956	0.19897	1.04495	-0.618461886141582	0.19019	1.018611	6.80979325413761E-5	0.04366	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.59	-0.788	0.10387	-0.057000	0.11726	.	.	-0.182000	0.10109	0.059000	0.21734	0.003000	0.18671	0.955000	0.50612	0.0:0.4378:0.2572:0.3049	5.321	0.15186	712	0.56465	Domain of unknown function DUF1619;Domain of unknown function DUF1619;Domain of unknown function DUF1619;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.018649	0.020408	0.016304	0.017544	0.000000	0.000000	0.021341	0.034091	0.1429	922.29	45	chr10	95684564	.	C	T	922.29	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.29;DP=225;ExcessHet=0.3476;FS=2.83;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=10.48;ReadPosRankSum=0.395;SOR=0.507	GT:AD:DP:GQ:PL	0/1:19,26:45:99:577,0,385	5	0	2	0
chr10	95693676	95693676	G	A	exonic	TCTN3	.	nonsynonymous SNV	TCTN3:NM_001143973:exon1:c.C224T:p.A75V,TCTN3:NM_015631:exon1:c.C224T:p.A75V	Joubert syndrome 18, Autosomal recessive;Orofaciodigital syndrome IV, Autosomal recessive	9	1406	104	3	0	110	0.0376454	.	.	.	207806	Orofacial-digital_syndrome_IV|Joubert_syndrome_18|not_specified|not_provided	MONDO:MONDO:0009794,MedGen:C0406727,OMIM:258860,Orphanet:2753|MONDO:MONDO:0013896,MedGen:C3553758,OMIM:614815,Orphanet:2754|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.029	.	0.0050	0.00359425	0.0104	0.0005	0.0025	0	0.0126	0.0070	0.0142	0.0174	0.0023544	364	154602	rs41291570	0.0065	0.0062	0.0062	0.0067	0.0151	0.0063	0.0063	0.0144	0.0141	0.0021	0.0038	0.0100	2.798e-05	0.0097	0.0146	0.0059	0.0073	0.0151	0.0045	0.0045	0.0048	0.0043	0.0133	0.0042	0.0041	0.0107	0.0097	0.0015	0.0088	0.0029	0.0069	0.0008	0.0056	0.0204	0.0059	0.0057	0.0133	0.135	0.26192	T	0.284	0.26631	T	0.002	0.12183	B	0.004	0.17743	B	0.695638	0.10137	N	0.851711	1	0.08975	N	1.2	0.30300	L	-1.72	0.83241	D	-1.18	0.30140	N	0.02	0.00445	-1.0142	0.25593	T	0.043	0.18576	T	10	0.00509724	0.00110	T	.	.	.	0.089	0.25827	.	.	0.853917324909	0.85251	0.27649445813637197	0.27562	0.112868008101	0.12739	0.290317267179	0.08968	T	0.003843	0.03252	T	-0.429777	0.01487	T	-0.377798	0.35981	T	0.00188038530215611	0.00019	T	0.70393	0.31793	T	0.027774865	0.02017	0.0480095	0.07041	0.028834157	0.02283	0.03944964	0.04039	-4.12	0.25877	T	0.20698699571383888	0.27655	0.069	0.09045	B	.;.;.;.;.	.;.;.;.;.	1.137991	0.15248	11.71	0.98272581091808886	0.39777	0.00594	0.02659	N	AEFDGBHCI	0.051049	0.08981	N	-0.671870877272385	0.16825	0.8606815	-0.823356092228878	0.13929	0.725252	0.999999999731661	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.54	-0.71	0.10668	0.271000	0.18390	.	.	0.662000	0.56354	0.001000	0.13787	0.001000	0.17328	0.076000	0.17014	0.3648:0.162:0.4732:0.0	4.443	0.11007	714	0.56256	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.022837	0.015957	0.007937	0.026549	0.000000	0.000000	0.027473	0.036585	0.1429	1735.24	61	chr10	95693676	.	G	A	1735.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.274;DP=342;ExcessHet=0.3476;FS=1.877;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=9.28;ReadPosRankSum=0.868;SOR=0.854	GT:AD:DP:GQ:PL	0/1:35,26:61:99:611,0,962	5	0	2	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	0/1:29,42:71:99:1012,0,589	5	0	2	0
chr10	96304553	96304553	C	T	exonic	DNTT	.	nonsynonymous SNV	DNTT:NM_001017520:exon1:c.C56T:p.T19M,DNTT:NM_004088:exon1:c.C56T:p.T19M	.	437	1084	1	0	0	1	0.000461042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00936320305682	.	.	5.791e-05	0	0	0	0	4.51e-05	0	0.0002	4.53e-05	7	154602	rs756316751	2.531e-05	2.599e-05	2.45e-05	2.613e-05	0.0002	1.868e-05	1.631e-05	0.0002	0.0001	8.961e-05	4.472e-05	0	0	0	0.0002	7.194e-06	4.968e-05	0.0002	7.884e-05	7.88e-05	5.139e-05	0.0001	0.0005	4.496e-05	3.512e-05	0.0002	0.0002	4.826e-05	0	0.0005	0	0	0	0	0	0.0010	0.0002	0.325	0.13349	T	0.278	0.21880	T	0.012	0.18474	B	0.003	0.13708	B	0.115597	0.19228	N	0.613982	1	0.08975	N	-0.18	0.04256	N	2.75	0.11622	T	0.25	0.04456	N	0.132	0.12770	-0.9836	0.34164	T	0.014	0.05369	T	10	0.029586941	0.01085	T	0.009363	0.24553	T	0.024	0.04979	.	.	0.315609569513	0.31162	0.40603856556167794	0.40519	0.100179550336	0.11320	0.255340486765	0.04352	T	0.134179	0.46528	T	-0.580811	0.00190	T	-0.771747	0.02711	T	0.0235517602413893	0.01090	T	0.621638	0.23898	T	0.0934824	0.21958	0.076717794	0.17021	0.0934824	0.21957	0.076717794	0.17021	-5.812	0.44722	T	.	.	0.061	0.02118	B	.;.	.;.	0.656277	0.10244	6.983	0.86016626129593787	0.16259	0.00151	0.00912	N	AEFBI	0.031752	0.03455	N	-1.07830337692149	0.07044	0.3260799	-1.07853108832866	0.08124	0.3980657	0.999621821525452	0.41093	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.76	-0.974	0.09767	0.157000	0.16219	-1.817000	0.04672	0.599000	0.40250	0.043000	0.21118	0.000000	0.08366	0.211000	0.22211	0.0:0.2216:0.0:0.7784	10.425	0.43559	447	0.79583	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	212.63	16	chr10	96304553	.	C	T	212.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.562;DP=158;ExcessHet=0;FS=4.467;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=2.33;SOR=0.525	GT:AD:DP:GQ:PL	0/1:7,9:16:99:223,0,191	6	0	1	0
chr10	124989543	124989543	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon9:c.A1517G:p.N506S,CTBP2:NM_022802:exon9:c.A2933G:p.N978S,CTBP2:NM_001321013:exon10:c.A1313G:p.N438S,CTBP2:NM_001083914:exon11:c.A1313G:p.N438S,CTBP2:NM_001290214:exon11:c.A1313G:p.N438S,CTBP2:NM_001290215:exon11:c.A1313G:p.N438S,CTBP2:NM_001321012:exon11:c.A1313G:p.N438S,CTBP2:NM_001321014:exon11:c.A1313G:p.N438S,CTBP2:NM_001329:exon11:c.A1313G:p.N438S	.	430	785	300	7	0	314	0.166667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.362	0.0412206901109	.	.	.	.	.	.	.	.	.	.	0.0011526	30	26028	rs75839774	4.107e-06	4.104e-06	5.449e-06	2.752e-06	4.497e-06	1.48e-06	9.7e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.497e-06	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.61437	D	0.553	0.32461	T	0.017	0.35330	B	0.044	0.44683	B	0.040786	0.24019	N	0.433304	0.546531	0.31369	N	1.1	0.28011	L	-1.58	0.82806	D	-0.98	0.25986	N	0.097	0.39153	-0.2662	0.75916	T	0.330	0.69766	T	10	0.12751639	0.24250	T	0.041221	0.59806	D	0.362	0.68230	0.075	0.00517	0.760080849401	0.75790	0.26369227103169535	0.26282	1.68067603589	0.89969	0.448414385319	0.31727	T	0.157679	0.50038	T	0.0363132	0.56560	T	-0.185615	0.55999	T	0.436808287713247	0.30312	T	0.90311	0.67973	D	0.08655811	0.20123	0.08484771	0.19547	0.08655811	0.20122	0.08484771	0.19547	-2.304	0.04577	T	.	.	0.070	0.03588	B	.;.;.;.;.;.	.;.;.;.;.;.	2.477890	0.31950	18.89	0.9913628706847909	0.53410	0.86806	0.46168	D	AEFDGBCI	0.540087	0.55679	D	-0.275999058280499	0.30077	1.67381	-0.0903501737703044	0.35788	2.074695	0.999999280419097	0.74766	0.722319	0.85440	0	0.00446	0.00028	3	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.12	3.98	0.45383	2.629000	0.46152	0.448000	0.18493	0.665000	0.62972	1.000000	0.71638	0.999000	0.35428	1.000000	0.97212	0.0:0.0728:0.0:0.9272	11.061	0.47165	940	0.13648	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4286	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|1:54,20:74:99:0|1:124989533_G_A:571,0,2147:124989533	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	0/1:53,10:63:99:172,0,1753	1	0	6	0
chr10	124994489	124994489	T	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.A964C:p.N322H,CTBP2:NM_022802:exon5:c.A2380C:p.N794H,CTBP2:NM_001321013:exon6:c.A760C:p.N254H,CTBP2:NM_001083914:exon7:c.A760C:p.N254H,CTBP2:NM_001290214:exon7:c.A760C:p.N254H,CTBP2:NM_001290215:exon7:c.A760C:p.N254H,CTBP2:NM_001321012:exon7:c.A760C:p.N254H,CTBP2:NM_001321014:exon7:c.A760C:p.N254H,CTBP2:NM_001329:exon7:c.A760C:p.N254H	.	425	876	218	3	0	224	0.11336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.855	0.287995004976	.	.	.	.	.	.	.	.	.	.	.	.	.	rs913075834	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.53900	D	0.014	0.69154	D	1.0	0.90584	D	0.995	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.03	0.86425	M	-1.64	0.82533	D	-4.7	0.80510	D	0.955	0.96416	0.598	0.91868	D	0.722	0.90485	D	10	0.93609107	0.92939	D	0.287995	0.90464	D	0.855	0.95544	0.749	0.87988	0.908261012674	0.90733	0.9221523146368497	0.92192	2.0305426451	0.94091	0.826209723949	0.85982	D	0.743281	0.92907	D	0.230793	0.76796	D	0.0937411	0.76494	D	0.996190285808554	0.88852	D	0.970303	0.89317	D	0.91641486	0.92901	0.8315015	0.90282	0.91641486	0.92902	0.8315015	0.90283	-11.706	0.83405	D	.	.	0.818	0.83534	P	.;.;.;.;.;.	.;.;.;.;.;.	4.739043	0.76411	26.5	0.99694374199735813	0.80180	0.94484	0.61314	D	AEFDGBCI	0.936668	0.93334	D	0.798915340390827	0.86037	8.759083	0.761626191030682	0.87022	9.081087	0.999999999999979	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.36	5.36	0.76624	7.674000	0.83146	7.884000	0.72673	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.357	0.74148	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	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|1:85,13:98:99:0|1:124994489_T_G:290,0,3510:124994489	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|1:85,16:101:99:0|1:124994489_T_G:416,0,3501:124994489	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|1:89,17:106:99:0|1:124994489_T_G:438,0,3609:124994489	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|1:94,23:117:99:0|1:124994523_G_A:621,0,3788:124994523	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	0/1:92,26:118:99:394,0,2459	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	0/1:86,29:115:99:424,0,2407	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|1:86,29:115:99:0|1:124994577_C_A:937,0,3395:124994577	0	0	7	0
chr10	125003368	125003368	G	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C387G:p.D129E,CTBP2:NM_022802:exon2:c.C1803G:p.D601E,CTBP2:NM_001321013:exon3:c.C183G:p.D61E,CTBP2:NM_001083914:exon4:c.C183G:p.D61E,CTBP2:NM_001290214:exon4:c.C183G:p.D61E,CTBP2:NM_001290215:exon4:c.C183G:p.D61E,CTBP2:NM_001321012:exon4:c.C183G:p.D61E,CTBP2:NM_001321014:exon4:c.C183G:p.D61E,CTBP2:NM_001329:exon4:c.C183G:p.D61E	.	430	852	239	1	0	241	0.123907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.229	0.0278736828157	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.52492	D	0.035	0.76473	D	0.057	0.33445	B	0.084	0.45295	B	0.000001	0.84330	D	0.093937	0.998215	0.47795	D	1.255	0.31814	L	0.84	0.47477	T	-3.72	0.73151	D	0.731	0.74280	-0.8081	0.54665	T	0.168	0.50745	T	10	0.57244885	0.65394	D	0.027874	0.50634	D	0.229	0.52916	0.567	0.68901	0.742667268481	0.74035	0.9372575970872389	0.93705	0.839287628383	0.67962	0.822298943996	0.85381	D	0.532581	0.83851	D	-0.00859042	0.50463	T	-0.250116	0.49806	T	0.95814836025238	0.65193	D	0.816918	0.54045	T	0.61954224	0.73738	0.49464875	0.70773	0.61954224	0.73740	0.49464875	0.70773	-13.991	0.95421	D	.	.	0.998	0.97084	P	.;.;.;.;.;.	.;.;.;.;.;.	1.288935	0.16893	12.83	0.98899659867088185	0.48163	0.32479	0.24596	N	AEFDGBHCI	0.425946	0.49050	N	-0.575959099119209	0.19677	1.031687	-0.660887068078052	0.17942	0.9563054	0.999999886987385	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	-4.33	0.03423	-0.760000	0.04861	-7.833000	0.01078	0.662000	0.56354	0.017000	0.19353	0.000000	0.08366	0.996000	0.76049	0.7124:0.0:0.2876:0.0	14.997	0.71096	923	0.18507	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2143	429.74	67	chr10	125003368	.	G	C	429.74	.	AC=3;AF=0.214;AN=14;BaseQRankSum=0.71;DP=449;ExcessHet=1.1394;FS=0;MLEAC=3;MLEAF=0.214;MQ=58.88;MQRankSum=-8.377;QD=2.34;ReadPosRankSum=-2.038;SOR=0.768	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:60,7:67:73:0|1:125003350_T_C:73,0,2489:125003350	4	0	3	0
chr10	125003382	125003382	C	-	exonic	CTBP2	.	frameshift deletion	CTBP2:NM_001363508:exon2:c.373delG:p.V125Wfs*17,CTBP2:NM_022802:exon2:c.1789delG:p.V597Wfs*17,CTBP2:NM_001321013:exon3:c.169delG:p.V57Wfs*17,CTBP2:NM_001083914:exon4:c.169delG:p.V57Wfs*17,CTBP2:NM_001290214:exon4:c.169delG:p.V57Wfs*17,CTBP2:NM_001290215:exon4:c.169delG:p.V57Wfs*17,CTBP2:NM_001321012:exon4:c.169delG:p.V57Wfs*17,CTBP2:NM_001321014:exon4:c.169delG:p.V57Wfs*17,CTBP2:NM_001329:exon4:c.169delG:p.V57Wfs*17	.	420	832	265	5	0	275	0.141826	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	818.61	70	chr10	125003381	.	AC	A	818.61	.	AC=5;AF=0.357;AN=14;BaseQRankSum=0.088;DP=460;ExcessHet=4.7409;FS=0.879;MLEAC=5;MLEAF=0.357;MQ=58.87;MQRankSum=-8.474;QD=2.25;ReadPosRankSum=-1.303;SOR=0.804	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:63,7:70:99:0|1:125003381_AC_A:104,0,2598:125003381	2	0	5	0
chr10	125003410	125003410	C	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.G345C:p.E115D,CTBP2:NM_022802:exon2:c.G1761C:p.E587D,CTBP2:NM_001321013:exon3:c.G141C:p.E47D,CTBP2:NM_001083914:exon4:c.G141C:p.E47D,CTBP2:NM_001290214:exon4:c.G141C:p.E47D,CTBP2:NM_001290215:exon4:c.G141C:p.E47D,CTBP2:NM_001321012:exon4:c.G141C:p.E47D,CTBP2:NM_001321014:exon4:c.G141C:p.E47D,CTBP2:NM_001329:exon4:c.G141C:p.E47D	.	421	824	273	4	0	281	0.145671	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.261	0.0418347474684	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs74705267	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.088	0.62352	T	0.043	0.35387	B	0.17	0.48482	B	0.000054	0.53742	D	0.195283	0.999999	0.58761	D	0.98	0.24916	L	0.68	0.51952	T	-2.71	0.59710	D	0.686	0.73555	-0.5581	0.66476	T	0.255	0.62530	T	10	0.56158	0.64817	D	0.041835	0.60142	D	0.261	0.57352	0.434	0.48500	0.881554203603	0.88039	0.972171025341375	0.97206	1.7143308071	0.90477	0.748663306236	0.74250	T	0.62925	0.88488	D	0.139244	0.68253	D	-0.0377626	0.67852	D	0.957904279232025	0.65131	D	0.844016	0.52137	T	0.77675706	0.82455	0.4746194	0.69552	0.77675706	0.82456	0.4746194	0.69552	-14.274	0.93913	D	.	.	0.998	0.98268	P	.;.;.;.;.;.	.;.;.;.;.;.	4.166684	0.62622	24.5	0.99797317996392532	0.88283	0.94867	0.62605	D	AEFDGBHCI	0.781566	0.71311	D	0.172151716873866	0.49864	3.182254	0.205790313476848	0.50167	3.211761	0.999999999997825	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	3.8	0.42887	5.029000	0.63903	1.014000	0.23354	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.9225:0.0:0.0775	13.510	0.60961	923	0.18507	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2143	313.74	61	chr10	125003410	.	C	G	313.74	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-2.1;DP=423;ExcessHet=1.1394;FS=1.933;MLEAC=3;MLEAF=0.214;MQ=58.55;MQRankSum=-7.953;QD=1.79;ReadPosRankSum=1.46;SOR=0.637	GT:AD:DP:GQ:PL	0/1:52,9:61:40:40,0,1388	4	0	3	0
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|1:48,7:55:99:0|1:125003425_G_C:149,0,1994:125003425	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|1:47,5:52:68:0|1:125003425_G_C:68,0,1958:125003425	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|1:44,5:49:78:0|1:125003425_G_C:78,0,1833:125003425	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|1:45,5:50:74:0|1:125003425_G_C:74,0,1874:125003425	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|1:44,5:49:78:0|1:125003425_G_C:78,0,1833:125003425	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|1:46,5:51:72:0|1:125003425_G_C:72,0,1876:125003425	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|1:45,5:50:75:0|1:125003425_G_C:75,0,1834:125003425	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|1:93,14:107:99:0|1:125039033_T_A:308,0,3842:125039033	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|1:93,14:107:99:0|1:125039033_T_A:308,0,3842:125039033	3	0	4	0
chr10	131166856	131166856	G	A	exonic	TCERG1L	.	nonsynonymous SNV	TCERG1L:NM_174937:exon5:c.C886T:p.R296C	.	422	1080	20	0	0	20	0.00917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	0.0002	0.00399361	0.0023	0.0003	0.0004	0	0	0.0004	0.0046	0.0148	0.0020828	322	154602	rs140533955	0.0012	0.0012	0.0007	0.0017	0.0155	0.0012	0.0012	0.0148	0.0145	0.0002	0.0003	7.652e-05	0.0001	0	0.0076	0.0003	0.0017	0.0155	0.0007	0.0007	0.0005	0.0009	0.0149	0.0006	0.0005	0.0122	0.0111	7.215e-05	0	0.0002	0	0	0	0	0.0004	0.0009	0.0149	0.125	0.27310	T	0.039	0.51112	D	0.0	0.02946	B	0.0	0.01387	B	0.676126	0.10298	N	0.835585	1	0.08975	N	-0.77	0.01674	N	1.89	0.23688	T	0.88	0.01664	N	0.154	0.15888	-1.0090	0.27230	T	0.020	0.08313	T	10	0.0048452616	0.00103	T	.	.	.	0.035	0.08770	.	.	0.0806252709748	0.07271	0.527596657307229	0.52683	0.144877207135	0.16365	0.365255862474	0.20148	T	0.001547	0.00986	T	-0.631067	0.00094	T	-0.666936	0.07806	T	0.00386785938519685	0.00041	T	0.615039	0.23503	T	0.04266499	0.06510	0.032138523	0.01904	0.04266499	0.06510	0.032138523	0.01903	-5.23	0.39245	T	.	.	0.081	0.08320	B	.	.	-0.386863	0.02263	0.233	0.8808417742267507	0.17704	0.00357	0.01833	N	AEFBI	0.031351	0.03330	N	-1.60939364842222	0.01218	0.05297706	-1.69043314844492	0.01180	0.05311048	0.337431296324123	0.19549	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	2.4	-4.8	0.02957	-0.954000	0.03983	-0.952000	0.06810	-0.633000	0.04490	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.6124:0.1645:0.2231:0.0	5.700	0.17150	984	0.02857	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004532	0.005051	0.000000	0.005848	0.000000	0.000000	0.003049	0.015152	0.1429	1800.24	90	chr10	131166856	.	G	A	1800.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.689;DP=313;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=11.84;ReadPosRankSum=1.64;SOR=0.643	GT:AD:DP:GQ:PL	0/1:39,51:90:99:1244,0,917	5	0	2	0
chr10	132404783	132404783	G	A	exonic	PWWP2B	.	nonsynonymous SNV	PWWP2B:NM_001098637:exon2:c.G283A:p.E95K,PWWP2B:NM_138499:exon2:c.G283A:p.E95K	.	428	1087	7	0	0	7	0.00320954	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.0327256510079	0.0035	0.00139776	0.0048	0.0007	0.0014	0	0.0089	0.0070	0.0043	0.0019	0.0037516	580	154602	rs199872085	0.0066	0.0064	0.0067	0.0065	0.0077	0.0065	0.0064	0.0075	0.0075	0.0005	0.0016	0.0010	2.744e-05	0.0081	0.0018	0.0077	0.0061	0.0024	0.0054	0.0051	0.0056	0.0052	0.0092	0.0050	0.0049	0.0085	0.0082	0.0010	0	0.0014	0.0007	0	0.0122	0.0040	0.0092	0.0033	0.0018	0.338	0.12796	T	0.6	0.11933	T	0.892	0.49086	P	0.163	0.34892	B	0.264667	0.03732	N	1.724340	0.999938	0.19363	N	0	0.06538	N	0.55	0.54728	T	-0.29	0.11728	N	0.051	0.05162	-1.0548	0.13093	T	0.043	0.18410	T	10	0.004287362	0.00086	T	0.032726	0.54474	D	0.058	0.16647	.	.	0.128874641272	0.12493	0.20427679856389042	0.20344	0.662413389895	0.58972	0.54086971283	0.44568	T	0.005955	0.05392	T	-0.654162	0.00068	T	-0.70787	0.05406	T	0.00374503688154403	0.00040	T	0.460954	0.13351	T	0.038982812	0.05298	0.040384356	0.04352	0.038982812	0.05298	0.040384356	0.04352	-5.125	0.38170	T	.	.	0.08	0.07793	B	.;.	.;.	0.910828	0.12853	9.365	0.9587886172419966	0.28068	0.02418	0.06834	N	AEFDBI	0.034963	0.04420	N	-1.09059294672234	0.06815	0.3148317	-1.20301146191289	0.05861	0.2804899	0.998214054219011	0.36589	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.655142	0.61905	0	.	.	3.07	-0.469	0.11536	0.327000	0.19408	0.678000	0.20656	-0.119000	0.14319	0.001000	0.13787	0.005000	0.19230	0.002000	0.04165	0.5702:0.0:0.4298:0.0	6.863	0.23261	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	0.002037	0.000000	0.000000	0.000000	0.000000	0.000000	0.003086	0.007752	0.08333	362.27	32	chr10	132404783	.	G	A	362.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.07;DP=252;ExcessHet=0;FS=3.102;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.32;ReadPosRankSum=-1.102;SOR=1.329	GT:AD:DP:GQ:PL	0/1:18,14:32:99:372,0,434	5	0	1	1
chr10	132810995	132810995	G	A	exonic	CFAP46	.	nonsynonymous SNV	CFAP46:NM_001200049:exon56:c.C7538T:p.S2513F	.	413	1105	4	0	0	4	0.00180668	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.206	0.0451430446258	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.001	0.83351	D	.	.	.	.	.	.	0.256780	0.15396	N	0.516876	1	0.08975	N	.	.	.	1.37	0.34253	T	-1.92	0.44657	N	0.418	0.45803	-0.9331	0.43680	T	0.165	0.50209	T	10	0.34378678	0.51384	T	0.045143	0.61838	D	0.206	0.49396	.	.	0.223847106136	0.22009	0.19744161446319972	0.19661	0.50304780445	0.48651	0.443925738335	0.31114	T	0.060438	0.31388	T	-0.129381	0.31597	T	-0.423624	0.30660	T	0.533969057498574	0.33880	D	0.773323	0.40460	T	0.09733194	0.22940	0.1056815	0.25409	0.09733194	0.22940	0.1056815	0.25408	-3.3	0.13737	T	.	.	0.865	0.80562	P	.	.	3.488893	0.48758	22.7	0.99649748772695024	0.77192	0.62737	0.31872	D	AEFDBCI	0.293991	0.40448	N	0.178821242932616	0.50183	3.210787	-0.0187231161888746	0.38871	2.296295	0.00233198622259661	0.09333	0.553676	0.25195	0	0.588015	0.36545	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	2.86	2.86	0.32427	0.696000	0.25220	10.297000	0.83275	0.618000	0.50648	0.001000	0.13787	1.000000	0.68203	0.010000	0.09038	0.0:0.0:1.0:0.0	9.405	0.37616	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	1093.63	60	chr10	132810995	.	G	A	1093.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.11;DP=237;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=18.23;ReadPosRankSum=0.074;SOR=0.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:31,29:60:99:0|1:132810995_G_A:1104,0,1194:132810995	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	0/1:9,13:22:99:403,0,296	5	0	2	0
chr11	1018290	1018290	G	A	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.C4511T:p.P1504L	.	414	746	107	2	253	364	0.0692452	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.00130114034182	.	.	0.0003	0.0006	0.0002	0.0001	0.0005	0.0003	0.0011	0	1.94e-05	3	154602	rs776891354	1.107e-05	3.01e-05	1.651e-05	5.562e-06	2.261e-05	6.55e-06	5.3e-06	8.17e-06	6.48e-06	0	2.261e-05	0	0	0	0	1.361e-05	0	0	0.0001	0.0098	0.0001	9.374e-05	0.0007	5.246e-05	3.934e-05	0.0001	5.226e-05	0.0001	0	0	0	0.0007	0	0	9.554e-05	0	0	0.087	0.32453	T	0.452	0.12884	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.805	0.20218	L	2.32	0.16640	T	-0.07	0.08033	N	0.067	0.03956	-1.0134	0.25848	T	0.014	0.05465	T	9	0.022066832	0.00542	T	0.001301	0.01809	T	0.004	0.00165	.	.	0.141422826196	0.13715	0.17699347360380507	0.17618	0.090681263109	0.10232	0.182567775249	0.00120	T	0.011815	0.10487	T	-0.418061	0.01760	T	-0.838292	0.01125	T	0.0714186060218739	0.08849	T	.	.	.	0.023426026	0.01081	0.02954413	0.01305	0.023426026	0.01081	0.02954413	0.01304	-3.396	0.15003	T	.	.	0.071	0.04041	B	.	.	-1.051810	0.00700	0.020	0.59025517677381145	0.06128	0.00427	0.02100	N	AEFDGBI	0.028602	0.02550	N	-2.28884873487817	0.00048	0.002069904	-2.37477325509698	0.00045	0.001973028	0.999941380871367	0.47345	0.69289	0.55638	0	0.550933	0.16991	0	0.517114	0.09559	2	0.508809	0.08732	0	.	.	2.41	-4.82	0.02938	-5.543000	0.00137	-20.000000	0.00162	-5.324000	0.00012	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3114:0.1979:0.3276:0.1631	0.642	0.00759	825	0.40060	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	2064.7	188	chr11	1018290	.	G	A	2064.7	.	AC=2;AF=0.143;AN=14;BaseQRankSum=3.39;DP=1257;ExcessHet=4.7409;FS=16.239;MLEAC=2;MLEAF=0.143;MQ=55.67;MQRankSum=-9.645;QD=1.9;ReadPosRankSum=0.999;SOR=1.776	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:161,14:188:42:.:.:103,0,6718:.	5	0	2	0
chr11	1095030	1095030	-	T	exonic	MUC2	.	unknown	UNKNOWN	.	981	540	1	0	0	1	0.000925069	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0009	0.0004	0.0004	0.0007	0.0004	0.0003	0.0005	0.0004	0.0004	0.0003	0.0003	0.0007	0.0027	0.0003	0.0002	0.0005	0.0006	0.0060	0.0082	0.0059	0.0062	0.0072	0.0057	0.0056	0.0067	0.0064	0.0039	0	0.0059	0.0032	0.0039	0.0102	0.0035	0.0072	0.0067	0.0048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1006.8	36	chr11	1095030	.	C	CT	1006.8	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.39;DP=157;ExcessHet=0;FS=43.154;MLEAC=1;MLEAF=0.071;MQ=57.11;MQRankSum=0.663;QD=27.97;ReadPosRankSum=-1.323;SOR=3.593	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:11,25:36:99:0|1:1094981_C_T:1017,0,369:1094981	6	0	1	0
chr11	1096006	1096006	-	ACACCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACATCG	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0015	0.0043	0.0015	0.0015	0.0060	0.0014	0.0014	0.0052	0.0048	0.0028	0.0010	0.0023	0.0060	0.0020	0.0021	0.0012	0.0021	0.0008	0.0003	0.0006	0.0002	0.0005	0.0016	0.0002	0.0001	0.0002	6.527e-05	0.0003	0	0.0009	0	0.0016	0	0	0.0003	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	1683.77	143	chr11	1096006	.	A	AACACCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACATCG	1683.77	.	AC=1;AF=0.25;AN=4;BaseQRankSum=-1.823;DP=1454;ExcessHet=0;FS=20.361;MLEAC=2;MLEAF=0.5;MQ=57.44;MQRankSum=-7.608;QD=12.03;ReadPosRankSum=-9.304;SOR=2.129	GT:AD:DP:GQ:PL	0/1:101,39:143:99:1689,0,2621	1	0	1	5
chr11	1096143	1096212	TGACACCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	0	exonic	MUC2	.	.	.	.	508	767	11	0	236	247	0.00711974	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	6291.69	430	chr11	1096143	.	TGACACCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	*	6291.69	.	AC=3;AF=0.214;AN=14;BaseQRankSum=2.25;DP=3158;ExcessHet=1.4958;FS=0;MLEAC=3;MLEAF=0.214;MQ=57.38;MQRankSum=-0.691;QD=3.77;ReadPosRankSum=-0.569;SOR=0.675	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:257,173:430:99:0|1:1096089_C_A:6447,0,10244:1096089	5	1	1	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|1:257,173:430:99:0|1:1096089_C_A:6447,0,10244:1096089	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|1:257,173:430:99:0|1:1096089_C_A:6447,0,10244:1096089	2	0	3	2
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|1:249,169:418:99:0|1:1096089_C_A:6248,0,9942:1096089	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|1:249,169:418:99:0|1:1096089_C_A:6248,0,9942:1096089	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|1:167,167:348:99:1|0:1096089_C_A:6405,0,6802:1096089	1	0	3	3
chr11	1096749	1096749	C	G	exonic	MUC2	.	unknown	UNKNOWN	.	858	658	6	0	0	6	0.00453858	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0026	0.0083	0.0023	0.0030	0.0089	0.0025	0.0025	0.0082	0.0079	0.0036	0.0068	0.0036	0.0056	0.0032	0.0043	0.0016	0.0024	0.0089	0	0.0009	0	0	.	0	0	.	.	0	0	0	0	0	0	.	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	147.05	30	chr11	1096749	.	C	G	147.05	.	AC=2;AF=0.143;AN=14;BaseQRankSum=3.53;DP=196;ExcessHet=0.3476;FS=27.262;MLEAC=2;MLEAF=0.143;MQ=50.45;MQRankSum=-2.264;QD=2.16;ReadPosRankSum=-2.373;SOR=4.401	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:26,4:30:95:0|1:1096735_G_A:95,0,971:1096735	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|1:164,32:196:99:0|1:1097308_C_CACGGTGACCCCAACCCCAACACCCACTGGCACACAGACCCCAACCACAACAGCCATCACCACCACCACT:385,0,3589:1097308	4	0	3	0
chr11	1098120	1098120	C	A	exonic	MUC2	.	unknown	UNKNOWN	.	615	888	19	0	0	19	0.010585	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1221177584	0.0007	0.0036	0.0007	0.0006	0.0040	0.0006	0.0006	0.0034	0.0031	0.0014	0.0006	0.0009	0.0040	0.0003	0.0007	0.0005	0.0009	0.0004	0.0017	0.0041	0.0020	0.0014	0.0042	0.0014	0.0013	0.0020	0.0017	0.0027	0	0.0010	0.0013	0.0042	0.0006	0	0.0015	0.0027	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	707.44	120	chr11	1098120	.	C	A	707.44	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-1.667;DP=574;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=38.68;MQRankSum=-1.618;QD=3.65;ReadPosRankSum=-0.569;SOR=0.569	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,22:120:99:0|1:1098026_G_A:630,0,3968:1098026	5	0	2	0
chr11	1098124	1098124	C	T	exonic	MUC2	.	unknown	UNKNOWN	.	631	864	27	0	0	27	0.0153846	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1320109801	0.0016	0.0060	0.0017	0.0015	0.0031	0.0015	0.0015	0.0025	0.0023	0.0012	0.0010	0.0021	0.0031	0.0020	0.0023	0.0016	0.0019	0.0007	0.0023	0.0048	0.0024	0.0022	0.0042	0.0019	0.0018	0.0018	0.0017	0.0026	0	0.0013	0.0025	0.0036	0.0014	0	0.0024	0.0037	0.0042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	732.09	105	chr11	1098124	.	C	T	732.09	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-1.819;DP=541;ExcessHet=0.3476;FS=2.164;MLEAC=2;MLEAF=0.2;MQ=36.56;MQRankSum=-1.383;QD=4.26;ReadPosRankSum=-1.399;SOR=0.382	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:84,21:105:99:0|1:1098026_G_A:630,0,3409:1098026	3	0	2	2
chr11	1186891	1186891	A	T	exonic	MUC5AC	.	nonsynonymous SNV	MUC5AC:NM_001304359:exon31:c.A8746T:p.T2916S	.	456	1062	3	1	0	5	0.00234852	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1307373380	0.0004	0.0004	0.0003	0.0004	0.0024	0.0003	0.0003	0.0013	0.0010	0	0.0003	0	0	0	0.0024	0.0005	0.0005	0.0004	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	0.0001	0.0002	0.0002	4.834e-05	0	0.0001	0	0	0	0	0.0003	0	0.0002	.	.	.	0.866	0.03352	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	0.10056	.	.	.	.	.	.	.	0.06474507	0.08633	T	.	.	.	.	.	.	.	.	.	0.07802531793669251	0.07738	.	.	.	.	.	0.045	0.26927	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-8.86	0.66791	D	.	.	0.145	0.31882	B	.	.	-0.463944	0.01986	0.174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.009000	0.12703	-20.000000	0.00162	-2.068000	0.00410	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	6811.44	617	chr11	1186891	.	A	T	6811.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.36;DP=3661;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=59.77;MQRankSum=-1.594;QD=11.04;ReadPosRankSum=-0.236;SOR=0.679	GT:AD:DP:GQ:PL	0/1:326,291:617:99:6822,0,7725	6	0	1	0
chr11	1630383	1630413	TTACTGCTGCCAGTCCAGCTGCTGTAAGCCC	0	exonic	KRTAP5-5	.	.	.	.	532	195	381	185	229	980	0.658195	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	14104.4	99	chr11	1630383	.	TTACTGCTGCCAGTCCAGCTGCTGTAAGCCC	*	14104.4	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-0.785;DP=924;ExcessHet=0.0509;FS=0.581;MLEAC=3;MLEAF=0.214;MQ=58.8;MQRankSum=-4.241;QD=20.06;ReadPosRankSum=1.56;SOR=0.638	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,50:99:99:.:.:3670,1702,2102:.	5	1	1	0
chr11	2417803	2417803	G	T	exonic	TRPM5	.	nonsynonymous SNV	TRPM5:NM_014555:exon7:c.C933A:p.H311Q	.	426	1093	3	0	0	3	0.00137049	.	.	.	2806674	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.230	0.0747293318014	0.0016	0.000798722	0.0028	0.0006	0.0003	0	0.0090	0.0040	0	0.0024	0.0013777	213	154602	rs138197888	0.0017	0.0017	0.0017	0.0017	0.0023	0.0016	0.0016	0.0021	0.0020	0.0002	0.0007	0.0013	5.139e-05	0.0013	0.0013	0.0018	0.0014	0.0023	0.0012	0.0012	0.0013	0.0011	0.0021	0.0011	0.0010	0.0018	0.0017	0.0004	0	6.533e-05	0.0017	0.0002	0.0011	0	0.0021	0.0009	0.0006	0.824	0.03421	T	0.239	0.24694	T	0.93	0.63424	P	0.713	0.64565	P	0.004452	0.33730	N	0.237159	0.938578	0.26860	N	1.59	0.40313	L	-0.36	0.68754	T	-1.44	0.35399	N	0.258	0.29774	-0.8159	0.54189	T	0.209	0.56812	T	10	0.014400184	0.00303	T	0.074729	0.72114	D	0.230	0.53062	0.654	0.79172	0.0297737177859	0.01360	0.4372345306045129	0.43640	0.0938026689721	0.10595	0.472316712141	0.34999	T	0.183337	0.53565	T	-0.524335	0.00415	T	-0.531496	0.19137	T	0.0262451696136681	0.01439	T	0.549745	0.18930	T	0.059072014	0.11963	0.0629099	0.12382	0.059072014	0.11962	0.0629099	0.12382	-7.511	0.57688	D	.	.	0.161	0.37407	B	.;.;.;.	.;.;.;.	1.015993	0.13953	10.51	0.28779958386757981	0.01494	0.63082	0.31979	D	AEFDBI	0.187715	0.31501	N	-0.887185837181931	0.11147	0.5363483	-1.00637868353728	0.09644	0.4810252	0.00410448877128394	0.10418	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	3.92	-0.619	0.10991	0.006000	0.13051	0.330000	0.17274	-1.620000	0.00869	0.961000	0.33663	0.975000	0.29991	0.117000	0.19042	0.0838:0.2722:0.365:0.2789	3.169	0.06154	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	1	0	0.000509	0.000000	0.000000	0.000000	0.000000	0.000000	0.003106	0.000000	0.07143	238.63	26	chr11	2417803	.	G	T	238.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.724;DP=194;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.18;ReadPosRankSum=-1.287;SOR=0.73	GT:AD:DP:GQ:PL	0/1:14,12:26:99:249,0,334	6	0	1	0
chr11	3038130	3038130	C	A	exonic	CARS1	.	nonsynonymous SNV	CARS1:NM_001378140:exon4:c.G196T:p.A66S,CARS1:NM_001378137:exon6:c.G442T:p.A148S,CARS1:NM_001378138:exon6:c.G442T:p.A148S,CARS1:NM_001751:exon6:c.G472T:p.A158S,CARS1:NM_139273:exon6:c.G472T:p.A158S,CARS1:NM_001014437:exon7:c.G721T:p.A241S,CARS1:NM_001194997:exon7:c.G721T:p.A241S,CARS1:NM_001378136:exon7:c.G511T:p.A171S,CARS1:NM_001378139:exon7:c.G442T:p.A148S	.	434	1016	66	6	0	78	0.0369668	.	.	.	701727	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.068	.	0.0078	0.00738818	0.0099	0.0014	0.0065	0.0001	0.0030	0.0104	0.0187	0.0228	0.0095212	1472	154602	rs12796489	0.0100	0.0100	0.0094	0.0106	0.0394	0.0099	0.0098	0.0352	0.0335	0.0017	0.0067	0.0121	7.557e-05	0.0040	0.0394	0.0097	0.0110	0.0239	0.0076	0.0076	0.0076	0.0076	0.0232	0.0072	0.0071	0.0197	0.0184	0.0017	0	0.0102	0.0110	0	0.0033	0.0408	0.0105	0.0099	0.0232	0.643	0.04957	T	0.52	0.10465	T	0.003	0.12996	B	0.015	0.20792	B	0.001760	0.38106	N	0.256618	1	0.08975	N	0.325	0.10370	N	0.94	0.43672	T	0.24	0.04533	N	0.146	0.15609	-1.0238	0.22476	T	0.042	0.18035	T	10	0.0089785755	0.00203	T	.	.	.	0.068	0.19811	.	.	0.268211541103	0.26431	0.41422578982597624	0.41338	0.231550034422	0.25707	0.272399067879	0.06456	T	0.065227	0.32635	T	-0.664305	0.00059	T	-0.709419	0.05325	T	0.000694211314457137	0.00006	T	.	.	.	0.05427984	0.10392	0.04404145	0.05617	0.05427984	0.10391	0.04404145	0.05616	-4.286	0.27980	T	.	.	0.080	0.09530	B	.;.;.;.	.;.;.;.	-0.223372	0.02973	0.443	0.88549503278566	0.18065	0.25720	0.22782	N	AEFGBCI	0.105898	0.21146	N	-1.04813854451331	0.07624	0.354797	-1.07389750514943	0.08216	0.4030183	0.999994626051788	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	3.86	1.89	0.24700	0.330000	0.19460	-0.382000	0.09534	0.599000	0.40250	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	0.1906:0.7114:0.0:0.098	6.191	0.19738	884	0.28482	.;tRNA synthetases class I, catalytic domain|tRNA synthetases class I, catalytic domain;.;tRNA synthetases class I, catalytic domain|tRNA synthetases class I, catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.024673	0.020202	0.021739	0.023392	0.000000	0.025862	0.024390	0.037879	0.07143	1183.44	84	chr11	3038130	.	C	A	1183.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.23;DP=266;ExcessHet=0;FS=2.955;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.09;ReadPosRankSum=0.885;SOR=0.407	GT:AD:DP:GQ:PL	0/1:35,49:84:99:1194,0,747	6	0	1	0
chr11	4545230	4545230	T	-	exonic	OR52M1	.	frameshift deletion	OR52M1:NM_001004137:exon1:c.40delT:p.F14Sfs*32	.	429	1053	39	1	0	41	0.0190964	.	.	.	3221646	OR52M1-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	.	.	0.0077	0.0181709	0.0084	0.0203	0.0027	0.0488	0	0.0005	0.0046	0.0211	0.001191	31	26028	rs77893620	0.0035	0.0035	0.0031	0.0040	0.0361	0.0035	0.0034	0.0345	0.0339	0.0230	0.0025	0.0002	0.0361	0	0.0064	0.0007	0.0077	0.0186	0.0091	0.0091	0.0088	0.0093	0.0445	0.0087	0.0085	0.0398	0.0380	0.0218	0	0.0052	0	0.0445	0	0	0.0006	0.0104	0.0214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009567	0.000000	0.005435	0.014620	0.000000	0.008621	0.009146	0.018939	0.07143	786.59	45	chr11	4545229	.	CT	C	786.59	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.565;DP=228;ExcessHet=0;FS=2.991;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.48;ReadPosRankSum=0.377;SOR=0.297	GT:AD:DP:GQ:PL	0/1:20,25:45:99:797,0,613	6	0	1	0
chr11	4681807	4681807	-	C	exonic	OR51E2	.	frameshift insertion	OR51E2:NM_030774:exon2:c.904dupG:p.V302Gfs*10	.	435	1081	6	0	0	6	0.00276753	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	0	7.492e-05	0	0.0005	8.41e-05	13	154602	rs763844103	7.456e-05	7.456e-05	5.581e-05	9.35e-05	0.0005	6.315e-05	5.873e-05	0.0003	0.0003	0	2.236e-05	0	0	0	0.0002	5.396e-05	0.0001	0.0005	3.939e-05	3.937e-05	1.285e-05	6.714e-05	0.0006	1.714e-05	1.129e-05	0.0002	9.007e-05	0	0	0	0	0	0	0	4.41e-05	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1999.4	133	chr11	4681807	.	A	AC	1999.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.422;DP=317;ExcessHet=0;FS=1.363;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.03;ReadPosRankSum=-1.019;SOR=0.822	GT:AD:DP:GQ:PL	0/1:61,72:133:99:2010,0,1697	6	0	1	0
chr11	6571721	6571721	T	C	exonic	DNHD1	.	nonsynonymous SNV	DNHD1:NM_144666:exon43:c.T13997C:p.I4666T	.	426	1064	32	0	0	32	0.0148148	.	.	.	612918	DNHD1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.021	0.00242048950287	0.0059	0.00199681	0.0061	0.0018	0.0051	0	0.0017	0.0091	0.0054	0.0019	0.005181	801	154602	rs11604362	0.0062	0.0062	0.0062	0.0062	0.0253	0.0061	0.0061	0.0220	0.0207	0.0016	0.0058	0.0083	0	0.0016	0.0253	0.0070	0.0066	0.0016	0.0046	0.0046	0.0052	0.0040	0.0068	0.0043	0.0042	0.0063	0.0061	0.0016	0.0340	0.0050	0.0072	0	0.0007	0.0308	0.0068	0.0086	0.0010	0.328	0.13219	T	0.217	0.26145	T	0.0	0.02946	B	0.001	0.04355	B	0.286257	0.03865	N	1.500610	1	0.08975	N	1.04	0.26193	L	3.19	0.07353	T	0.85	0.01736	N	0.108	0.09914	-0.9586	0.39442	T	0.005	0.01578	T	10	0.0035536885	0.00064	T	0.00242	0.04757	T	0.021	0.04004	.	.	0.0401082797425	0.02173	0.2379967463452294	0.23713	0.148820726089	0.16780	0.2791274786	0.07370	T	0.004595	0.03998	T	-0.689082	0.00042	T	-0.757749	0.03194	T	6.56141346553341e-05	0.00001	T	0.382862	0.09330	T	0.025150282	0.01421	0.037576307	0.03441	0.025150282	0.01421	0.037576307	0.03440	-1.741	0.02339	T	.	.	0.092	0.13644	B	.;.	.;.	-0.464050	0.01986	0.174	0.63889802075881286	0.07344	0.02995	0.07855	N	AEFDGBHCI	0.017310	0.00445	N	-1.45185825977806	0.02202	0.09697423	-1.37140251439273	0.03560	0.166304	0.999925422565124	0.46280	0.67177	0.52595	0	0.702456	0.74545	0	0.505578	0.09266	0	0.664235	0.64389	0	.	.	4.75	-0.827	0.10256	-0.708000	0.05138	-0.500000	0.08808	-0.137000	0.12594	0.000000	0.06391	0.000000	0.08366	0.061000	0.16044	0.3386:0.1861:0.0:0.4753	3.778	0.08189	425	0.81160	Dynein heavy chain domain;Dynein heavy chain 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	0.023666	0.015152	0.020380	0.064327	0.050000	0.017241	0.009146	0.003788	0.08333	595.23	44	chr11	6571721	.	T	C	595.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.593;DP=219;ExcessHet=0;FS=4.288;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.53;ReadPosRankSum=-0.482;SOR=0.288	GT:AD:DP:GQ:PL	0/1:21,23:44:99:605,0,519	5	0	1	1
chr11	7963399	7963399	G	A	exonic	NLRP10	.	nonsynonymous SNV	NLRP10:NM_176821:exon1:c.C97T:p.R33W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.0142664598716	0.0002	0.000599042	0.0002	0.0005	8.648e-05	0	0	3.001e-05	0.0022	0.0012	0.0002329	36	154602	rs146049194	0.0001	0.0001	6.943e-05	0.0002	0.0015	0.0001	0.0001	0.0013	0.0012	0.0001	2.236e-05	0	0.0002	0	0.0007	1.799e-05	0.0002	0.0015	0.0002	0.0002	0.0002	0.0002	0.0012	0.0001	0.0001	0.0005	0.0004	0.0003	0	0.0003	0	0	0	0	4.41e-05	0	0.0012	0.054	0.38633	T	0.086	0.40909	T	0.245	0.31074	B	0.071	0.27960	B	0.657249	0.10458	N	0.783587	1	0.08975	N	1.5	0.37844	L	0.83	0.47815	T	-2.48	0.69357	N	0.35	0.39153	-0.9460	0.41648	T	0.113	0.40284	T	10	0.01211828	0.00262	T	0.014266	0.34274	T	0.103	0.29403	.	.	0.53104733087	0.52752	0.44375052966841305	0.44293	0.105728612331	0.11951	0.42362254858	0.28335	T	0.054313	0.30292	T	-0.445085	0.01207	T	-0.452643	0.27405	T	0.00770362254277423	0.00090	T	.	.	.	0.061956163	0.12888	0.06968491	0.14714	0.061956163	0.12887	0.06968491	0.14714	-5.595	0.42746	T	.	.	0.238	0.47172	B	.;.	.;.	2.063786	0.26240	17.05	0.9871548151901014	0.45113	0.02589	0.07148	N	AEFGBCI	0.045687	0.07501	N	-0.860779057780444	0.11786	0.570701	-0.975023174518484	0.10348	0.5206107	0.99762241446635	0.35831	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.13	0.124	0.14016	-0.493000	0.06539	-0.473000	0.08966	-0.110000	0.15115	0.000000	0.06391	0.000000	0.08366	0.173000	0.21076	0.3344:0.0:0.461:0.2046	2.768	0.04999	768	0.49510	DAPIN domain|DAPIN domain|DAPIN domain;DAPIN domain|DAPIN 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	566.49	44	chr11	7963399	.	G	A	566.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.062;DP=218;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.87;ReadPosRankSum=0.687;SOR=0.588	GT:AD:DP:GQ:PL	0/1:19,25:44:99:577,0,410	6	0	1	0
chr11	12293628	12293628	G	A	exonic	MICALCL	.	nonsynonymous SNV	MICALCL:NM_032867:exon3:c.G197A:p.R66Q	.	437	1018	62	5	0	72	0.0341556	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	.	0.0046	0.00998403	0.0073	0.0015	0.0062	0.0242	0.0038	0.0056	0.0056	0.0110	0.0066558	1029	154602	rs148792670	0.0062	0.0062	0.0060	0.0064	0.0217	0.0061	0.0060	0.0186	0.0179	0.0008	0.0049	0.0054	0.0195	0.0027	0.0217	0.0056	0.0083	0.0099	0.0051	0.0052	0.0051	0.0052	0.0231	0.0048	0.0047	0.0197	0.0184	0.0010	0.0044	0.0056	0.0061	0.0231	0.0027	0.0170	0.0061	0.0071	0.0102	0.673	0.04521	T	0.502	0.11115	T	.	.	.	.	.	.	0.530288	0.11646	N	0.701301	1	0.08975	N	.	.	.	3.36	0.05918	T	0.25	0.04456	N	0.03	0.00717	-0.9170	0.45958	T	0.003	0.01026	T	10	0.0025303662	0.00038	T	.	.	.	0.007	0.00512	.	.	0.132336055621	0.12781	.	.	0.0162568994873	0.01562	0.216049045324	0.01094	T	.	.	.	-0.742639	0.00020	T	-0.818576	0.01482	T	0.00101569959699687	0.00010	T	0.488651	0.14976	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.18622	B	.;.	.;.	0.231460	0.06126	2.572	0.78592888275697237	0.12368	0.01101	0.04040	N	AEFDBI	0.030233	0.03004	N	-1.85835775263321	0.00417	0.0179525	-1.81897311249413	0.00700	0.03118622	0.955462753322834	0.28190	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.71	-3.9	0.03904	0.079000	0.14636	1.571000	0.27417	-0.763000	0.03499	0.079000	0.22314	0.968000	0.29604	0.003000	0.05239	0.3934:0.0:0.4217:0.1849	7.360	0.25913	906	0.23090	.;.	.	.	.	.	rs148792670	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.018630	0.000000	0.021739	0.035088	0.000000	0.025862	0.021341	0.011364	0.1429	1051.24	107	chr11	12293628	.	G	A	1051.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.73;DP=291;ExcessHet=0.3476;FS=2.397;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=9.06;ReadPosRankSum=0.594;SOR=0.487	GT:AD:DP:GQ:PL	0/1:58,49:107:99:1009,0,1318	5	0	2	0
chr11	17553211	17553211	G	A	exonic	OTOG	.	nonsynonymous SNV	OTOG:NM_001277269:exon4:c.G421A:p.V141M,OTOG:NM_001292063:exon5:c.G385A:p.V129M	Deafness, autosomal recessive 18B, Autosomal recessive	8	1506	8	0	0	8	0.00264901	1.0000	0.996	.	230045	Meniere_disease|not_specified|not_provided|Autosomal_recessive_nonsyndromic_hearing_loss_18B|OTOG-related_disorder	MONDO:MONDO:0007972,MedGen:C0025281,OMIM:156000|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013985,MedGen:C3554163,OMIM:614945,Orphanet:90636|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.252	.	.	0.000599042	0.0004	0.0011	0	0	0	0.0008	0	0.0001	0.0001876	29	154602	rs552304627	0.0009	0.0009	0.0009	0.0009	0.0019	0.0009	0.0009	0.0012	0.0011	6.33e-05	0.0016	7.947e-05	0	4.164e-05	0.0019	0.0011	0.0009	0.0001	0.0008	0.0008	0.0008	0.0009	0.0018	0.0007	0.0007	0.0012	0.0011	0.0003	0.0011	0.0018	0.0003	0	0	0.0136	0.0012	0.0009	0	0.001	0.78490	D	0.0	0.92824	D	.	.	.	.	.	.	0.000131	0.49741	U	0.000000	0.999995	0.58761	D	2.275	0.64647	M	2.11	0.19860	T	-2.28	0.50830	N	0.498	0.53884	0.735	0.93610	D	0.810	0.93572	D	8	0.029867262	0.01113	T	0.152769	0.83414	D	0.252	0.56159	.	.	0.289098819767	0.28531	0.40285226492066106	0.40201	.	.	0.809623837471	0.83434	D	0.138145	0.47147	T	-0.27063	0.11686	T	-0.168782	0.57554	T	0.0839331305810653	0.10482	T	0.862614	0.55818	D	0.30592415	0.53430	0.4042858	0.64861	0.3123483	0.53988	0.39376733	0.64087	-5.755	0.44180	T	.	.	0.744	0.78641	P	.;.;.	.;.;.	6.335095	0.95035	34	0.99877465426074996	0.95410	0.99029	0.90187	D	AEFDBI	0.916781	0.88347	D	0.664749203087661	0.77325	6.653394	0.615510663787076	0.76067	6.423032	0.999999999988696	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.36	5.36	0.76624	9.602000	0.97623	11.698000	0.94457	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	0.0:0.0:1.0:0.0	18.695	0.91557	754	0.51307	von Willebrand factor, type D domain;von Willebrand factor, type D domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	434.83	38	chr11	17553211	.	G	A	434.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.62;DP=223;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=-0.947;SOR=0.636	GT:AD:DP:GQ:PL	0/1:22,16:38:99:445,0,590	6	0	1	0
chr11	17642200	17642200	G	A	exonic	OTOG	.	nonsynonymous SNV	OTOG:NM_001277269:exon52:c.G8405A:p.R2802H,OTOG:NM_001292063:exon53:c.G8369A:p.R2790H	Deafness, autosomal recessive 18B, Autosomal recessive	8	1492	20	2	0	24	0.00797872	.	.	.	230180	Meniere_disease|not_provided|not_specified	MONDO:MONDO:0007972,MedGen:C0025281,OMIM:156000|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.059	0.0283372504366	.	0.00239617	0.0037	0	0.0070	0	0	0.0058	0	0.0031	0.000925	143	154602	rs117315845	0.0023	0.0022	0.0024	0.0023	0.0079	0.0023	0.0022	0.0061	0.0054	0.0005	0.0029	0.0118	8.395e-05	2.078e-05	0.0079	0.0022	0.0031	0.0025	0.0020	0.0020	0.0021	0.0020	0.0029	0.0019	0.0018	0.0022	0.0021	0.0005	0	0.0029	0.0141	0.0002	0	0.0068	0.0025	0.0047	0.0027	0.235	0.18000	T	0.032	0.53426	D	.	.	.	.	.	.	0.415666	0.12937	U	0.633406	0.997058	0.22807	N	0	0.06538	N	2.34	0.16351	T	-0.79	0.21860	N	0.12	0.11054	-1.0156	0.25143	T	0.013	0.05273	T	8	0.0062504113	0.00141	T	0.028337	0.51029	D	0.059	0.16972	.	.	0.104622674875	0.10061	0.322351961586085	0.32148	.	.	0.453960210085	0.32485	T	0.069659	0.33766	T	-0.622543	0.00106	T	-0.670695	0.07564	T	0.0170966670649605	0.00455	T	0.79692	0.44325	T	0.03753874	0.04831	0.030210957	0.01449	0.044588383	0.07152	0.042879596	0.05206	-4.586	0.31995	T	.	.	0.087	0.13597	B	.;.	.;.	2.990201	0.39914	21.1	0.9623178987708948	0.29122	0.54556	0.29645	D	AEFDBI	0.232467	0.35553	N	-0.464700989427482	0.23244	1.246863	-0.420621056808819	0.24392	1.335474	3.90753324716607E-4	0.06781	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.98	1.77	0.23848	2.720000	0.46921	3.318000	0.37521	-0.182000	0.10109	0.651000	0.28180	1.000000	0.68203	0.095000	0.18041	0.193:0.2781:0.3936:0.1353	1.796	0.02876	677	0.60274	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1021.49	80	chr11	17642200	.	G	A	1021.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.076;DP=255;ExcessHet=0;FS=1.848;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.77;ReadPosRankSum=-0.387;SOR=0.801	GT:AD:DP:GQ:PL	0/1:36,44:80:99:1032,0,768	6	0	1	0
chr11	18283808	18283808	C	T	exonic	HPS5	.	nonsynonymous SNV	HPS5:NM_007216:exon20:c.G2703A:p.M901I,HPS5:NM_181508:exon20:c.G2703A:p.M901I,HPS5:NM_181507:exon21:c.G3045A:p.M1015I	Hermansky-Pudlak syndrome 5	1	1499	21	1	0	23	0.00761337	.	.	.	254081	not_specified|Hermansky-Pudlak_syndrome_5|not_provided	MedGen:CN169374|MONDO:MONDO:0013557,MedGen:C3888004,OMIM:614074,Orphanet:231512,Orphanet:79430|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.061	0.00343407009999	0.0065	0.00219649	0.0053	0.0013	0.0033	0	0.0032	0.0081	0.0055	0.0019	0.0054333	840	154602	rs61755718	0.0062	0.0063	0.0062	0.0063	0.0090	0.0061	0.0061	0.0071	0.0069	0.0009	0.0048	0.0056	0	0.0035	0.0090	0.0071	0.0062	0.0024	0.0051	0.0051	0.0053	0.0049	0.0092	0.0048	0.0047	0.0080	0.0075	0.0010	0	0.0092	0.0066	0	0.0025	0.0204	0.0076	0.0062	0.0023	0.274	0.20988	T	0.263	0.48336	T	0.002	0.09854	B	0.003	0.08700	B	0.000030	0.55875	D	0.182193	0.944391	0.26692	N	0.755	0.19153	N	0.65	0.52642	T	-0.32	0.16187	N	0.367	0.41853	-1.0841	0.06572	T	0.037	0.15986	T	10	0.0052384734	0.00114	T	0.003434	0.07725	T	0.061	0.17616	0.19	0.10039	0.437850553699	0.43404	0.363894242531548	0.36303	0.0585039543478	0.06489	0.435782372952	0.30000	T	0.099721	0.40481	T	-0.467136	0.00886	T	-0.438376	0.28990	T	0.00679383975175657	0.00077	T	0.789321	0.47137	T	0.10789853	0.25512	0.08325923	0.19068	0.098915875	0.23338	0.08325923	0.19067	-1.696	0.02585	T	.	.	0.418	0.61725	A	.;.;.;.	.;.;.;.	3.205910	0.43621	21.8	0.9603410061052392	0.28512	0.89374	0.49800	D	AEFBI	0.202774	0.32934	N	-0.208970558572334	0.32765	1.85152	0.0622409162456563	0.42668	2.584779	0.253676565573333	0.18707	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.683762	0.67416	0	.	.	5.98	5.07	0.68106	1.708000	0.37518	3.965000	0.40779	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1427:0.7865:0.0:0.0707	9.546	0.38447	670	0.60992	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.013092	0.005051	0.024457	0.000000	0.000000	0.000000	0.015244	0.011364	0.07143	791.44	65	chr11	18283808	.	C	T	791.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.192;DP=278;ExcessHet=0;FS=0.942;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.18;ReadPosRankSum=0.381;SOR=0.877	GT:AD:DP:GQ:PL	0/1:32,33:65:99:802,0,793	6	0	1	0
chr11	18719865	18719865	T	C	exonic	IGSF22	.	nonsynonymous SNV	IGSF22:NM_173588:exon7:c.A547G:p.K183E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.0121660291587	.	.	8.281e-06	0.0001	0	0	0	0	0	0	6.5e-06	1	154602	rs757130357	1.984e-05	1.984e-05	2.042e-05	1.925e-05	2.987e-05	1.392e-05	1.203e-05	1.663e-05	1.425e-05	2.987e-05	0	0	0	0	0	2.428e-05	1.656e-05	0	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	0.226	0.18562	T	0.0	0.92824	D	.	.	.	.	.	.	0.033242	0.24922	N	0.192972	0.999505	0.21084	N	.	.	.	0.65	0.52642	T	-0.45	0.14782	N	0.418	0.45803	-1.0103	0.26823	T	0.120	0.42015	T	10	0.26400378	0.43884	T	0.012166	0.30502	T	0.099	0.28413	0.417	0.45709	0.760942616389	0.75876	0.13244731691086062	0.13168	0.571060429895	0.53246	0.447722673416	0.31632	T	.	.	.	-0.303824	0.08303	T	-0.49267	0.23112	T	0.995907425880432	0.88288	D	0.492651	0.15191	T	.	.	.	.	.	.	.	.	-4.868	0.35373	T	.	.	0.180	0.39237	B	.	.	2.687851	0.35076	19.80	0.99717820523170853	0.81843	0.67459	0.33440	D	AEFBI	0.203330	0.32985	N	0.0314385399136662	0.43289	2.624797	0.0141768290737165	0.40371	2.408323	0.0900843971562646	0.16100	0.497415	0.19182	0	0.59043	0.45803	0	0.563428	0.18855	0	0.530356	0.10902	0	.	.	2.87	2.87	0.32523	4.213000	0.58317	0.046000	0.13935	0.502000	0.22824	1.000000	0.71638	0.020000	0.20764	0.931000	0.46843	0.0:0.0:0.0:1.0	9.295	0.36969	759	0.50631	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	945.44	67	chr11	18719865	.	T	C	945.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.22;DP=252;ExcessHet=0;FS=4.843;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.11;ReadPosRankSum=-1.124;SOR=1.306	GT:AD:DP:GQ:PL	0/1:32,35:67:99:956,0,725	6	0	1	0
chr11	20092320	20092320	A	G	exonic	NAV2	.	nonsynonymous SNV	NAV2:NM_001111019:exon18:c.A2959G:p.M987V,NAV2:NM_145117:exon28:c.A5767G:p.M1923V,NAV2:NM_182964:exon28:c.A5776G:p.M1926V,NAV2:NM_001111018:exon29:c.A5575G:p.M1859V,NAV2:NM_001244963:exon30:c.A5944G:p.M1982V	.	419	1091	11	1	0	13	0.00592255	.	.	.	3192262	NAV2-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.055	.	0.0005	0.00259585	0.0021	0.0003	0.0018	0	0	0.0006	0.0011	0.0118	0.0018823	291	154602	rs140693573	0.0011	0.0011	0.0008	0.0014	0.0114	0.0011	0.0010	0.0109	0.0106	0.0002	0.0013	0.0020	0	0	0.0062	0.0003	0.0015	0.0114	0.0007	0.0007	0.0007	0.0008	0.0104	0.0006	0.0006	0.0081	0.0073	0.0001	0	0.0009	0.0009	0.0002	9.418e-05	0.0034	0.0005	0.0019	0.0104	0.292	0.18434	T	0.277	0.22561	T	0.0	0.02946	B	0.0	0.04355	B	0.711572	0.10009	N	0.878099	0.999999	0.08975	N	0.845	0.21182	L	1.77	0.25841	T	-0.63	0.24026	N	0.219	0.25130	-1.0693	0.09567	T	0.021	0.08732	T	9	0.0035722852	0.00065	T	.	.	.	0.055	0.15663	.	.	0.23524818089	0.23142	0.18010943180078337	0.17929	0.41494507042	0.42158	0.299527615309	0.10331	T	0.011155	0.36026	T	-0.671016	0.00054	T	-0.726257	0.04500	T	0.0108014514994385	0.00153	T	0.824517	0.48627	T	0.042037062	0.06301	0.06588853	0.13417	0.042037062	0.06301	0.06588853	0.13417	-4.548	0.31512	T	.	.	0.053	0.01491	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.009564	0.04347	1.111	0.59728580425167499	0.06293	0.07059	0.13085	N	AEFBI	0.072710	0.14519	N	-1.43625411616667	0.02327	0.1026254	-1.52721831279669	0.02137	0.09782311	0.999999999994081	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	6.17	-12.3	0.00001	-0.274000	0.08569	-1.440000	0.05434	-0.083000	0.16234	0.000000	0.06391	0.000000	0.08366	0.990000	0.65344	0.2238:0.5122:0.0534:0.2106	8.329	0.31336	875	0.30485	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.005539	0.005051	0.000000	0.008772	0.000000	0.008621	0.000000	0.015152	0.07143	277.53	32	chr11	20092320	.	A	G	277.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.922;DP=196;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.67;ReadPosRankSum=-0.817;SOR=0.551	GT:AD:DP:GQ:PL	0/1:18,14:32:99:288,0,443	6	0	1	0
chr11	45902506	45902506	C	T	exonic	MAPK8IP1	.	nonsynonymous SNV	MAPK8IP1:NM_005456:exon5:c.C739T:p.P247S	.	413	1095	14	0	0	14	0.00635209	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	.	0.0073	0.00319489	0.0099	0.0030	0.0049	0.0002	0.0210	0.0129	0.0098	0.0075	0.006811	1053	154602	rs117665789	0.0095	0.0095	0.0096	0.0095	0.0107	0.0094	0.0093	0.0106	0.0105	0.0016	0.0049	0.0016	0.0001	0.0100	0.0036	0.0107	0.0083	0.0071	0.0069	0.0069	0.0070	0.0068	0.0101	0.0065	0.0064	0.0095	0.0092	0.0022	0.0209	0.0058	0.0020	0	0.0104	0	0.0101	0.0076	0.0058	0.031	0.45039	D	0.616	0.09795	T	0.816	0.45573	P	0.245	0.38823	B	0.000011	0.62929	D	0.065445	0.998496	0.44993	D	1.32	0.33002	L	1.24	0.36691	T	-0.62	0.18248	N	0.343	0.42050	-1.1029	0.03758	T	0.044	0.19111	T	10	0.004411131	0.00090	T	.	.	.	0.117	0.32689	.	.	0.368021343446	0.36418	0.1638190692086197	0.16301	1.23262236702	0.81394	0.584953010082	0.50783	T	0.250764	0.62091	T	-0.541355	0.00329	T	-0.541	0.18198	T	0.0128702646338869	0.00220	T	0.693531	0.30321	T	0.11472272	0.27081	0.11416077	0.27556	0.10529684	0.24894	0.11416077	0.27556	-4.158	0.26141	T	.	.	0.081	0.08033	B	.;.	.;.	3.150523	0.42647	21.6	0.99693363987309003	0.80112	0.65112	0.32629	D	AEFBCI	0.496552	0.53145	N	-0.0136159726570341	0.41238	2.463142	0.0303879258557061	0.41132	2.466171	0.998126188882572	0.36460	0.695654	0.57023	0	0.550933	0.16991	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	4.51	4.51	0.54589	4.404000	0.59494	5.809000	0.49993	0.599000	0.40250	0.974000	0.34632	1.000000	0.68203	0.823000	0.38780	0.0:1.0:0.0:0.0	17.771	0.88403	461	0.78683	.;.	.	.	.	.	rs117665789	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	0.002022	0.000000	0.000000	0.002924	0.000000	0.008621	0.000000	0.007576	0.07143	921.44	76	chr11	45902506	.	C	T	921.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.035;DP=269;ExcessHet=0;FS=4.468;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.12;ReadPosRankSum=-0.452;SOR=0.51	GT:AD:DP:GQ:PL	0/1:38,38:76:99:932,0,918	6	0	1	0
chr11	58227978	58227983	TGTTCC	-	exonic	OR10Q1	.	nonframeshift deletion	OR10Q1:NM_001004471:exon1:c.893_898del:p.R298_N299del	.	425	1075	22	0	0	22	0.0101289	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0026	0.00299521	0.0024	0.0002	0.0029	0.0001	0.0002	0.0023	0.0022	0.0059	0.0004995	13	26028	rs569971760	0.0020	0.0020	0.0018	0.0023	0.0067	0.0020	0.0019	0.0062	0.0061	0.0002	0.0039	0.0002	2.519e-05	0.0002	0.0024	0.0018	0.0020	0.0067	0.0016	0.0016	0.0016	0.0016	0.0058	0.0014	0.0014	0.0041	0.0036	0.0003	0	0.0031	0	0	0.0004	0	0.0022	0.0019	0.0058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1048.41	52	chr11	58227977	.	TTGTTCC	T	1048.41	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.696;DP=256;ExcessHet=0;FS=1.073;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=20.16;ReadPosRankSum=-0.794;SOR=0.527	GT:AD:DP:GQ:PL	0/1:25,27:52:99:1059,0,960	6	0	1	0
chr11	59443586	59443590	ACCCA	-	exonic	OR5A1	.	frameshift deletion	OR5A1:NM_001004728:exon2:c.418_422del:p.T140Gfs*27	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.295e-05	0	8.637e-05	0	0	0	0	0.0002	3.84e-05	1	26028	rs774040347	3.625e-05	3.625e-05	3.539e-05	3.713e-05	0.0005	2.828e-05	2.565e-05	0.0003	0.0002	0	0.0001	0	0	0	0.0005	8.094e-06	4.967e-05	0.0004	5.924e-05	5.912e-05	5.146e-05	6.739e-05	0.0015	3.082e-05	2.214e-05	0.0007	0.0005	2.42e-05	0	0	0	0	0	0	1.471e-05	0	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1572.4	102	chr11	59443585	.	GACCCA	G	1572.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.055;DP=397;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.42;ReadPosRankSum=-0.356;SOR=0.72	GT:AD:DP:GQ:PL	0/1:60,42:102:99:1583,0,2377	6	0	1	0
chr11	61740527	61740527	G	C	exonic	DAGLA	.	nonsynonymous SNV	DAGLA:NM_006133:exon18:c.G1918C:p.V640L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.359	0.0303838687175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	0.20078	T	0.084	0.41239	T	0.984	0.60733	D	0.956	0.69739	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.085	0.57729	M	1.75	0.26152	T	-1.66	0.39692	N	0.801	0.79696	-0.9294	0.44227	T	0.147	0.47183	T	10	0.85639554	0.84838	D	0.030384	0.52709	D	0.359	0.67962	0.717	0.85230	0.332276917938	0.32835	0.6045569509805981	0.60386	1.38609513779	0.84885	0.863340735435	0.91603	D	0.126602	0.45309	T	0.100887	0.64389	D	-0.0928586	0.63945	T	0.953071773052216	0.63941	D	0.949005	0.80370	D	0.34753636	0.56875	0.27692467	0.53642	0.34753636	0.56876	0.27692467	0.53641	-9.454	0.70572	D	.	.	0.932	0.85229	P	.	.	5.079334	0.84758	28.4	0.99721849654714378	0.82125	0.99768	0.99325	D	AEFBI	0.892349	0.82920	D	0.710803035018918	0.80340	7.272851	0.681479095580318	0.80974	7.419648	0.999999999989603	0.74766	0.651	0.46895	0	0.547309	0.14657	0	0.723109	0.80598	0	0.683762	0.67416	0	.	.	4.41	4.41	0.52588	9.852000	0.98385	11.590000	0.93399	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	17.371	0.87267	745	0.52414	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	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|1:32,18:50:99:0|1:61740527_G_C:202,0,748:61740527	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|1:32,18:50:99:0|1:61740527_G_C:202,0,748:61740527	1	0	4	2
chr11	62576195	62576195	A	T	exonic	TUT1	.	nonsynonymous SNV	TUT1:NM_001367906:exon9:c.T1465A:p.W489R	.	407	1085	30	0	0	30	0.0136364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0066	0.00179712	0.0091	0.0019	0.0051	0	0.0048	0.0138	0.0097	0.0026	0.0071797	1110	154602	rs118073625	0.0083	0.0083	0.0084	0.0082	0.0180	0.0082	0.0081	0.0152	0.0141	0.0012	0.0035	0.0068	0	0.0042	0.0180	0.0097	0.0084	0.0019	0.0053	0.0053	0.0059	0.0046	0.0089	0.0050	0.0049	0.0083	0.0081	0.0015	0.0011	0.0033	0.0081	0	0.0024	0.0170	0.0089	0.0085	0.0014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.014099	0.005051	0.014946	0.029240	0.000000	0.008621	0.009146	0.003788	0.07143	497.83	51	chr11	62576195	.	A	T	497.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.099;DP=224;ExcessHet=0;FS=2.369;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.76;ReadPosRankSum=0.746;SOR=0.404	GT:AD:DP:GQ:PL	0/1:27,24:51:99:508,0,654	6	0	1	0
chr11	62615729	62615729	C	T	exonic	B3GAT3	.	nonsynonymous SNV	B3GAT3:NM_012200:exon5:c.G980A:p.R327Q,B3GAT3:NM_001288721:exon6:c.G959A:p.R320Q	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1017472	Larsen-like_syndrome,_B3GAT3_type|Inborn_genetic_diseases|not_provided	MONDO:MONDO:0009511,MedGen:C3278404,OMIM:245600,Orphanet:284139|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.073	0.0237419893054	.	.	2.575e-05	0	0.0002	0	0	1.552e-05	0	0	2.59e-05	4	154602	rs569989507	5.337e-05	5.336e-05	5.174e-05	5.502e-05	0.0005	4.345e-05	4.018e-05	0.0001	7.557e-05	0	4.473e-05	0	0	0	0.0005	5.935e-05	4.969e-05	4.64e-05	6.568e-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	0.389	0.10874	T	0.143	0.33219	T	0.0	0.02946	B	0.0	0.01387	B	0.004430	0.33751	N	0.254043	1	0.81001	D	1.295	0.32453	L	-1.02	0.76300	T	-0.68	0.19509	N	0.054	0.02559	-0.9012	0.47868	T	0.238	0.60607	T	10	0.03878793	0.02321	T	0.023742	0.46713	T	0.073	0.21317	0.261	0.20473	0.801811778313	0.79996	0.20439763939130595	0.20356	0.348214224296	0.36698	0.285089820623	0.08212	T	0.03511	0.23589	T	-0.26194	0.12673	T	-0.417064	0.31413	T	0.0724860730398844	0.08995	T	0.782222	0.41780	T	0.29056713	0.52045	0.09579453	0.22733	0.29056713	0.52045	0.09579453	0.22733	-3.577	0.17525	T	.	.	0.076	0.06024	B	.	.	2.014831	0.25599	16.82	0.99374006808188775	0.61585	0.30447	0.24085	N	AEFGBI	0.346821	0.44150	N	-0.608217994804571	0.18697	0.9727509	-0.497634234973027	0.22220	1.205757	0.981486486447589	0.30269	0.67177	0.52595	0	0.643519	0.57511	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	4.8	2.9	0.32809	0.437000	0.21261	.	.	-0.176000	0.10722	0.046000	0.21249	0.033000	0.21346	0.965000	0.52897	0.0:0.8023:0.0:0.1977	8.419	0.31853	198	0.92335	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	619.44	42	chr11	62615729	.	C	T	619.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.9;DP=214;ExcessHet=0;FS=1.206;MLEAC=1;MLEAF=0.071;MQ=58.77;MQRankSum=-2.127;QD=14.75;ReadPosRankSum=2.65;SOR=0.478	GT:AD:DP:GQ:PL	0/1:17,25:42:99:630,0,311	6	0	1	0
chr11	64834338	64834338	C	T	exonic	CDC42BPG	.	nonsynonymous SNV	CDC42BPG:NM_017525:exon20:c.G2341A:p.E781K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.0221029341845	7.7e-05	.	3.777e-05	0	0	0	0	0	0	0.0001	2.59e-05	4	154602	rs376552956	3.309e-05	3.557e-05	3.49e-05	3.126e-05	9.8e-05	2.55e-05	2.285e-05	4.804e-05	3.534e-05	3.083e-05	0	0	0	0	0	3.47e-05	0	9.8e-05	1.314e-05	1.313e-05	1.284e-05	1.345e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.19	0.21144	T	0.162	0.31225	T	0.929	0.51690	P	0.404	0.44625	B	0.001277	0.39594	N	0.110501	0.971208	0.38854	D	2.075	0.57047	M	1.03	0.40469	T	-1.77	0.41809	N	0.451	0.48872	-1.0021	0.29313	T	0.105	0.38489	T	10	0.21460173	0.37988	T	0.022103	0.44952	T	0.078	0.22779	.	.	0.532168211543	0.52864	0.567961211843321	0.56724	0.752973457457	0.63868	0.587891995907	0.51197	T	0.037031	0.24324	T	-0.143817	0.29284	T	-0.44436	0.28320	T	0.784565985202789	0.45337	D	0.856214	0.54490	D	0.066821784	0.14414	0.13995428	0.33375	0.066821784	0.14414	0.13995428	0.33374	-8.866	0.66830	D	.	.	0.089	0.12084	B	.	.	3.027514	0.40545	21.2	0.99871063150458028	0.94902	0.46591	0.27794	N	AEFDGBI	0.162142	0.28829	N	0.0345799201869474	0.43433	2.636393	0.013212538676884	0.40328	2.404959	0.999999910715656	0.74766	0.700653	0.57754	0	0.588066	0.40923	0	0.717052	0.78885	0	0.567892	0.33627	0	.	.	5.06	4.14	0.47821	1.003000	0.29410	1.432000	0.26455	0.599000	0.40250	0.002000	0.15269	0.802000	0.26959	0.926000	0.46234	0.0:0.824:0.176:0.0	11.899	0.51950	309	0.87553	Myotonic dystrophy protein kinase, coiled coil|Myotonic dystrophy protein kinase, coiled coil	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001531	0.000000	0.000000	0.000000	0.000000	0.008621	0.006173	0.000000	0.08333	336.27	25	chr11	64834338	.	C	T	336.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.807;DP=166;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.45;ReadPosRankSum=1.55;SOR=0.498	GT:AD:DP:GQ:PL	0/1:10,15:25:99:346,0,229	5	0	1	1
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	0/1:34,25:59:99:.:.:177,0,497:.	2	0	5	0
chr11	67467357	67467357	G	A	exonic	TMEM134	.	nonsynonymous SNV	TMEM134:NM_001078650:exon4:c.C361T:p.R121C,TMEM134:NM_001078651:exon4:c.C334T:p.R112C,TMEM134:NM_025124:exon4:c.C361T:p.R121C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.00561440560184	7.7e-05	.	8.302e-06	9.839e-05	0	0	0	0	0	0	6.5e-06	1	154602	rs371527066	5.473e-06	5.472e-06	5.446e-06	5.501e-06	0.0001	2.36e-06	1.7e-06	5.849e-05	3.758e-05	0.0001	0	0	0	1.874e-05	0	0	0	2.319e-05	3.942e-05	3.94e-05	6.422e-05	1.345e-05	0.0001	1.715e-05	1.129e-05	6.282e-05	4.299e-05	0.0001	0	0	0	0	0	0	0	0	0	0.028	0.51853	D	0.011	0.66756	D	0.004	0.12183	B	0.003	0.08700	B	0.002525	0.36389	N	0.218810	0.994526	0.42315	D	1.845	0.48678	L	.	.	.	-0.72	0.24244	N	0.353	0.44666	-0.9969	0.30783	T	0.135	0.44875	T	9	0.2086421	0.37200	T	0.005614	0.14500	T	0.074	0.21613	.	.	0.154104182512	0.14974	0.561181125651518	0.56045	0.0995731962095	0.11238	0.271081268787	0.06282	T	0.036941	0.24290	T	-0.174278	0.24590	T	-0.251446	0.49673	T	0.189879573650178	0.19837	T	0.873413	0.58193	D	0.08098205	0.18584	0.06916918	0.14538	0.08098205	0.18584	0.06916918	0.14537	-5.562	0.42444	T	.	.	0.089	0.12323	B	.;.	.;.	3.464818	0.48308	22.6	0.96880380745361561	0.31457	0.35688	0.25360	N	AEFBCI	0.159708	0.28555	N	-0.480718849282196	0.22714	1.214745	-0.41165813171206	0.24655	1.351332	0.998357588977531	0.36814	0.660085	0.49399	0	0.662677	0.63036	0	0.643519	0.47002	0	0.655142	0.61905	0	.	.	4.37	2.48	0.29194	2.630000	0.46160	2.133000	0.30793	0.606000	0.46413	1.000000	0.71638	0.989000	0.31174	0.989000	0.64315	0.2268:0.0:0.7732:0.0	6.715	0.22484	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	.	.	.	.	.	.	.	.	0.07143	676.49	44	chr11	67467357	.	G	A	676.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.04;DP=201;ExcessHet=0;FS=1.189;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.37;ReadPosRankSum=-1.294;SOR=0.495	GT:AD:DP:GQ:PL	0/1:16,28:44:99:687,0,283	6	0	1	0
chr11	72095011	72095011	G	C	exonic	LRTOMT	.	nonsynonymous SNV	LRTOMT:NM_001205138:exon4:c.G298C:p.G100R,LRTOMT:NM_001145307:exon5:c.G352C:p.G118R,LRTOMT:NM_001271471:exon5:c.G352C:p.G118R,LRTOMT:NM_001318803:exon5:c.G352C:p.G118R,LRTOMT:NM_145309:exon5:c.G352C:p.G118R	Deafness, autosomal recessive 63, Autosomal recessive	0	1513	8	1	0	10	0.00329381	.	.	.	230229	Autosomal_recessive_nonsyndromic_hearing_loss_63|not_specified|not_provided|LRTOMT-related_disorder	MONDO:MONDO:0012670,MedGen:C1969621,OMIM:611451,Orphanet:90636|MedGen:CN169374|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.114	.	0.0053	0.00359425	0.0049	0.0021	0.0022	0	0.0127	0.0068	0.0066	0.0004	0.0050452	780	154602	rs149637884	0.0064	0.0064	0.0066	0.0062	0.0074	0.0063	0.0063	0.0072	0.0072	0.0010	0.0030	0.0017	0	0.0114	0.0042	0.0074	0.0058	0.0006	0.0045	0.0045	0.0043	0.0047	0.0060	0.0042	0.0041	0.0054	0.0052	0.0015	0	0.0060	0.0020	0	0.0111	0.0034	0.0058	0.0047	0.0002	0.166	0.24758	T	0.497	0.11299	T	0.01	0.27266	B	0.01	0.24832	B	0.080132	0.20943	N	0.501814	1	0.81001	D	2.155	0.60227	M	-0.21	0.66294	T	-0.69	0.21215	N	0.367	0.41853	-1.0368	0.18295	T	0.083	0.32440	T	10	0.008438677	0.00191	T	.	.	.	0.114	0.32008	0.379	0.39482	0.480574121323	0.47689	.	.	.	.	0.459091573954	0.33186	T	0.007208	0.06625	T	-0.367302	0.03733	T	-0.294124	0.45343	T	0.00326756443632443	0.00034	T	0.905209	0.74506	D	.	.	.	.	.	.	.	.	-8.945	0.68261	D	0.10690774698806924	0.08643	0.160	0.43116	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	2.973222	0.39636	21.0	0.87029333014338728	0.16939	0.79943	0.39717	D	AEFDGBCIJ	0.274436	0.38962	N	-0.504449875041368	0.21935	1.167774	-0.350621122489587	0.26489	1.46349	0.999996507289428	0.74766	0.536635	0.22144	0	0.577304	0.33150	0	0.489635	0.07774	0	0.636168	0.56350	0	.	.	5.45	3.23	0.36150	1.556000	0.35895	3.812000	0.39914	-0.161000	0.11593	1.000000	0.71638	1.000000	0.68203	0.333000	0.25271	0.1889:0.0:0.6484:0.1627	5.553	0.16386	557	0.71576	.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	DHCR7	Cells_EBV-transformed_lymphocytes	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.010101	0.004076	0.000000	0.000000	0.017241	0.009146	0.000000	0.07143	393.53	45	chr11	72095011	.	G	C	393.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.897;DP=222;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.75;ReadPosRankSum=-1.326;SOR=0.653	GT:AD:DP:GQ:PL	0/1:25,20:45:99:404,0,647	6	0	1	0
chr11	73394701	73394701	G	C	exonic	RELT	.	nonsynonymous SNV	RELT:NM_032871:exon9:c.G1013C:p.R338P,RELT:NM_152222:exon9:c.G1013C:p.R338P	.	401	1120	1	0	0	1	0.000446229	.	.	.	3205215	RELT-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.507	0.120105476566	0.0028	0.000399361	0.0025	0.0004	0.0006	0	0.0031	0.0039	0.0034	0.0004	0.0024709	382	154602	rs147659360	0.0032	0.0032	0.0032	0.0032	0.0036	0.0031	0.0031	0.0035	0.0035	0.0004	0.0011	0.0052	2.519e-05	0.0037	0.0003	0.0036	0.0030	0.0006	0.0025	0.0025	0.0027	0.0022	0.0039	0.0023	0.0022	0.0035	0.0033	0.0006	0	0.0027	0.0061	0	0.0025	0	0.0039	0.0019	0.0002	0.002	0.72154	D	0.006	0.70582	D	0.997	0.70673	D	0.731	0.55321	P	0.000003	0.62929	D	0.058353	0.711759	0.33526	D	2.77	0.80896	M	-1.22	0.78752	T	-3.53	0.68532	D	0.604	0.62273	0.374	0.88712	D	0.521	0.82115	D	10	0.017392904	0.00371	T	0.120105	0.80056	D	0.507	0.78786	.	.	0.719263558215	0.71679	0.4743254348279872	0.47351	0.365847165232	0.38172	0.515975356102	0.41060	T	0.224059	0.58838	T	-0.145313	0.29048	T	0.0194442	0.71593	D	0.0304924705411548	0.02066	T	0.710329	0.32115	T	0.7131917	0.78783	0.7111176	0.82958	0.73020035	0.79736	0.6837796	0.81411	-1.88	0.02759	T	0.2361618945186724	0.31978	0.342	0.56105	A	.;.	.;.	4.493645	0.70214	25.5	0.99772693932545753	0.86088	0.79972	0.39738	D	AEFDGBCI	0.399393	0.47469	N	0.503635181275105	0.67305	5.06387	0.45586118048983	0.65094	4.780496	0.999999831350803	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.696353	0.63694	0	0.635551	0.53088	0	.	.	5.04	5.04	0.67293	0.795000	0.26632	11.708000	0.94607	0.676000	0.76740	0.003000	0.16062	1.000000	0.68203	0.974000	0.55675	0.0:0.1563:0.8437:0.0	13.653	0.61795	393	0.83123	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.07143	362.49	40	chr11	73394701	.	G	C	362.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.35;DP=205;ExcessHet=0;FS=1.366;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.06;ReadPosRankSum=-0.112;SOR=1.096	GT:AD:DP:GQ:PL	0/1:25,15:40:99:373,0,643	6	0	1	0
chr11	74085833	74085833	T	C	exonic	C2CD3	.	nonsynonymous SNV	C2CD3:NM_001286577:exon21:c.A3695G:p.N1232S,C2CD3:NM_015531:exon21:c.A3695G:p.N1232S	.	425	1069	26	2	0	30	0.0138376	.	.	.	237381	C2CD3-related_disorder|not_provided|not_specified	.|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.260	.	0.0062	0.00359425	0.0074	0.0018	0.0025	0.0002	0.0018	0.0090	0.0078	0.0138	0.0071668	1108	154602	rs140307393	0.0081	0.0081	0.0078	0.0084	0.0136	0.0080	0.0079	0.0130	0.0127	0.0013	0.0036	0.0036	5.04e-05	0.0022	0.0133	0.0087	0.0078	0.0136	0.0056	0.0055	0.0057	0.0054	0.0112	0.0052	0.0051	0.0088	0.0082	0.0015	0	0.0054	0.0023	0.0002	0.0016	0.0034	0.0090	0.0038	0.0112	0.065	0.91255	T	0.0	0.92824	D	0.998	0.73220	D	0.994	0.82059	D	0.000000	0.84330	D	0.047690	0.998178	0.44592	D	2.275	0.64647	M	2.1	0.22474	T	-3.73	0.70920	D	0.618	0.67822	-1.0898	0.05565	T	0.087	0.33774	T	9	0.008733511	0.00198	T	.	.	.	0.260	0.57221	.	.	0.730538620245	0.72814	0.6667703258334168	0.66615	0.450404353452	0.44807	0.605244636536	0.53645	T	0.566117	0.85558	D	-0.443432	0.01235	T	-0.398059	0.33611	T	0.00854146172025429	0.00104	T	0.928907	0.75503	D	0.16323857	0.36452	0.28754643	0.54767	0.13781822	0.31896	0.2813219	0.54112	-6.251	0.48333	T	0.8860313117378174	0.94227	0.290	0.52144	B	.;.;.	.;.;.	4.933726	0.81364	27.5	0.99834264341119572	0.91542	0.96462	0.69259	D	AEFBHCI	0.847817	0.76465	D	0.709629925426277	0.80264	7.255832	0.723519105273188	0.84165	8.216543	1.0	0.98316	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.8	5.8	0.92081	7.453000	0.79758	7.851000	0.70967	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.798	0.78201	381	0.83684	C2 domain|C2 domain|C2CD3, C2 domain;.;C2 domain|C2 domain|C2CD3, C2 domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009567	0.010101	0.005435	0.020468	0.000000	0.000000	0.006098	0.015152	0.1429	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	0/1:38,39:77:99:900,0,1021	5	0	2	0
chr11	85886325	85886325	A	G	exonic	CCDC83	.	nonsynonymous SNV	CCDC83:NM_001286159:exon5:c.A469G:p.N157D,CCDC83:NM_173556:exon5:c.A469G:p.N157D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.0130361108443	.	.	8.591e-06	0	8.752e-05	0	0	0	0	0	6.5e-06	1	154602	rs745662225	2.059e-06	2.052e-06	4.096e-06	0	6.897e-05	5.5e-07	1.5e-07	1.829e-05	9.07e-06	0	6.897e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.25979	T	0.187	0.29945	T	0.687	0.41560	P	0.189	0.36295	B	0.007743	0.31217	N	0.314716	1	0.81001	D	2.52	0.73523	M	0.91	0.45248	T	-2.35	0.51968	N	0.305	0.34444	-1.0741	0.08535	T	0.075	0.30303	T	9	0.13016504	0.24771	T	0.013036	0.32127	T	0.097	0.27909	0.255	0.19533	0.117506650769	0.11410	0.22887508853742333	0.22802	0.0458610742693	0.04982	0.633895456791	0.57698	T	0.003452	0.02859	T	-0.37622	0.03291	T	-0.598507	0.12937	T	0.552418529987335	0.34568	D	0.610439	0.23144	T	0.12241394	0.28766	0.16248485	0.37741	0.12241394	0.28766	0.16248485	0.37740	-4.026	0.25157	T	.	.	0.155	0.34383	B	.;.	.;.	2.585125	0.33527	19.37	0.99485367284534976	0.67124	0.60389	0.31182	D	AEDGBIJ	0.172147	0.29916	N	0.0422059657948302	0.43786	2.664661	0.13631171303565	0.46420	2.888345	0.940638529580317	0.27440	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.09	3.95	0.44952	1.509000	0.35387	5.298000	0.48228	0.756000	0.94297	1.000000	0.71638	0.996000	0.32793	1.000000	0.97212	0.7379:0.1709:0.0913:0.0	5.623	0.16750	713	0.56348	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	395.46	28	chr11	85886325	.	A	G	395.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.38;DP=199;ExcessHet=0;FS=3.227;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.12;ReadPosRankSum=-0.876;SOR=0.537	GT:AD:DP:GQ:PL	0/1:13,15:28:99:406,0,288	6	0	1	0
chr11	88149739	88149739	C	T	exonic	RAB38	.	nonsynonymous SNV	RAB38:NM_022337:exon2:c.G419A:p.G140D	.	434	1086	2	0	0	2	0.000919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.226	0.0178965398464	.	0.000599042	0.0003	0	0	0	0	1.499e-05	0	0.0021	0.0002458	38	154602	rs529999144	0.0001	0.0001	7.759e-05	0.0002	0.0021	0.0001	0.0001	0.0019	0.0018	0	0	0	0	0	0.0003	3.597e-06	4.967e-05	0.0021	9.85e-05	9.843e-05	7.711e-05	0.0001	0.0031	6.003e-05	4.877e-05	0.0019	0.0015	0	0	0	0	0	0	0	0	0	0.0031	0.562	0.06341	T	0.577	0.08594	T	0.002	0.09854	B	0.014	0.16862	B	0.000138	0.49741	D	0.211384	0.999727	0.48557	D	0.28	0.10031	N	-0.97	0.75670	T	0.14	0.05405	N	0.744	0.74371	-1.0026	0.29168	T	0.093	0.35390	T	9	0.04597503	0.03732	T	0.017897	0.39776	T	0.226	0.52472	0.572	0.69564	0.868550372422	0.86726	0.748654397795004	0.74811	0.217516937017	0.24271	0.824813485146	0.85767	D	0.21779	0.58033	T	-0.290786	0.09557	T	-0.196946	0.54934	T	0.0384196424075703	0.03407	T	0.887811	0.61653	D	0.27788338	0.50845	0.2469598	0.50216	0.27788338	0.50844	0.2469598	0.50214	-7.703	0.59029	D	.	.	0.172	0.37802	B	.	.	3.535433	0.49623	22.8	0.93343849730080919	0.23075	0.92537	0.55944	D	AEFBI	0.534783	0.55368	D	0.161879195689553	0.49377	3.138686	0.316527916242715	0.56511	3.814483	0.0812715877643726	0.15869	0.693126	0.56070	0	0.708844	0.79440	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	5.47	5.47	0.80345	3.660000	0.54234	7.544000	0.60141	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.1493:0.8507:0.0:0.0	14.203	0.65258	893	0.26510	Small GTP-binding protein domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	807.45	84	chr11	88149739	.	C	T	807.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.329;DP=274;ExcessHet=0;FS=0.831;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.61;ReadPosRankSum=-0.647;SOR=0.803	GT:AD:DP:GQ:PL	0/1:48,36:84:99:818,0,1324	6	0	1	0
chr11	89191378	89191378	G	A	exonic	TYR	.	nonsynonymous SNV	TYR:NM_000372:exon2:c.G996A:p.M332I	Albinism, oculocutaneous, type IA, Autosomal recessive;Albinism, oculocutaneous, type IB;Waardenburg syndrome/albinism, digenic, Autosomal dominant	1	1517	2	2	0	6	0.00197368	.	.	YES	1170272	not_provided|Abnormality_of_the_skin|Oculocutaneous_albinism_type_1A|SKIN/HAIR/EYE_PIGMENTATION_3,_LIGHT/DARK_SKIN	MedGen:C3661900|Human_Phenotype_Ontology:HP:0000951,Human_Phenotype_Ontology:HP:0001478,Human_Phenotype_Ontology:HP:0001479,Human_Phenotype_Ontology:HP:0005591,Human_Phenotype_Ontology:HP:0006736,Human_Phenotype_Ontology:HP:0007415,Human_Phenotype_Ontology:HP:0007580,MedGen:C5848159|MONDO:MONDO:0008745,MedGen:C4551504,OMIM:203100,Orphanet:352731,Orphanet:79431|MedGen:C2677190,OMIM:601800	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0.816	0.452783023193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	1.362e-06	0	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.47320	D	0.077	0.42436	T	0.985	0.61118	D	0.977	0.73820	D	0.000000	0.84330	N	0.034352	1	0.81001	D	2.5	0.72771	M	-4.47	0.97583	D	-0.86	0.23372	N	0.924	0.92784	1.077	0.98798	D	0.948	0.98287	D	9	0.89743793	0.89100	D	0.452783	0.94373	D	0.816	0.94085	0.564	0.68499	0.999915359409	0.99991	0.8442407316737897	0.84385	0.0739840921623	0.08289	0.513606905937	0.40727	T	0.703991	0.91501	D	0.49892	0.94263	D	0.478887	0.94184	D	0.967107117176056	0.67799	D	0.933907	0.75239	D	0.80760825	0.84396	0.71026814	0.82910	0.80760825	0.84398	0.71026814	0.82911	-2.292	0.04511	T	0.5667168270684695	0.63413	0.458	0.62616	A	.	.	4.710871	0.75672	26.4	0.99709727968769313	0.81213	0.98032	0.79028	D	AEFI	0.938470	0.93771	D	0.731490665441918	0.81697	7.583261	0.683030735018421	0.81092	7.446299	0.556091860729777	0.21375	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.59	4.67	0.58089	7.465000	0.79922	11.679000	0.94198	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.863:0.137	15.818	0.78393	875	0.30485	Tyrosinase copper-binding domain	.	.	.	.	.	Uncertain significance	0	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	486.45	59	chr11	89191378	.	G	A	486.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.301;DP=242;ExcessHet=0;FS=2.383;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.24;ReadPosRankSum=-1.057;SOR=0.392	GT:AD:DP:GQ:PL	0/1:36,23:59:99:497,0,1013	6	0	1	0
chr11	93754023	93754023	G	A	exonic	C11orf54	.	nonsynonymous SNV	C11orf54:NM_001286070:exon4:c.G259A:p.G87R,C11orf54:NM_001351993:exon4:c.G259A:p.G87R,C11orf54:NM_001286068:exon5:c.G316A:p.G106R,C11orf54:NM_001286069:exon5:c.G316A:p.G106R,C11orf54:NM_001286071:exon5:c.G316A:p.G106R,C11orf54:NM_001351990:exon5:c.G259A:p.G87R,C11orf54:NM_001351991:exon5:c.G316A:p.G106R,C11orf54:NM_001351992:exon5:c.G316A:p.G106R,C11orf54:NM_014039:exon5:c.G316A:p.G106R,C11orf54:NM_001286067:exon6:c.G316A:p.G106R,C11orf54:NM_001351985:exon6:c.G316A:p.G106R,C11orf54:NM_001351986:exon6:c.G316A:p.G106R,C11orf54:NM_001351987:exon6:c.G316A:p.G106R,C11orf54:NM_001351988:exon6:c.G316A:p.G106R,C11orf54:NM_001351989:exon6:c.G316A:p.G106R	.	434	1086	2	0	0	2	0.000919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.739	0.0273401208162	0.0021	0.000599042	0.0004	0.0051	8.639e-05	0	0	3.001e-05	0	0	0.000401	62	154602	rs111749614	0.0002	0.0002	0.0002	0.0002	0.0053	0.0002	0.0002	0.0047	0.0045	0.0053	0.0001	0.0003	0.0002	0	0.0016	1.529e-05	0.0008	4.638e-05	0.0015	0.0015	0.0015	0.0014	0.0050	0.0013	0.0012	0.0045	0.0042	0.0050	0	0.0007	0	0.0002	0	0	1.47e-05	0	0.0002	0.004	0.72154	D	0.042	0.70582	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.047201	1	0.81001	D	2.67	0.78151	M	.	.	.	-6.42	0.92476	D	0.962	0.99670	0.094	0.84066	D	0.447	0.78294	T	9	0.035144866	0.01750	T	0.02734	0.50160	D	0.739	0.90939	0.752	0.88237	0.680820311638	0.67810	0.875609550741208	0.87527	0.265596492825	0.29113	.	.	.	0.23439	0.64985	T	0.136663	0.68006	D	0.425311	0.92906	D	0.0909151369614218	0.11326	T	0.905509	0.66687	D	0.83386487	0.86173	0.6429655	0.79134	0.83386487	0.86175	0.6429655	0.79135	-3.629	0.26461	T	.	.	0.330	0.75089	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	5.256437	0.88258	29.5	0.99911036292469724	0.98022	0.99636	0.98212	D	AEFBI	0.936708	0.93343	D	0.818610696165557	0.87256	9.155199	0.73835651946531	0.85286	8.535024	0.999999925573182	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.68	4.68	0.58319	9.045000	0.93277	8.563000	0.77575	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:1.0:0.0	17.780	0.88432	819	0.41190	Domain of unknown function DUF1907|Domain of unknown function DUF1907|Domain of unknown function DUF1907;Domain of unknown function DUF1907|Domain of unknown function DUF1907|Domain of unknown function DUF1907;.;Domain of unknown function DUF1907|Domain of unknown function DUF1907|Domain of unknown function DUF1907;Domain of unknown function DUF1907|Domain of unknown function DUF1907|Domain of unknown function DUF1907;Domain of unknown function DUF1907|Domain of unknown function DUF1907|Domain of unknown function DUF1907;Domain of unknown function DUF1907|Domain of unknown function DUF1907|Domain of unknown function DUF1907;Domain of unknown function DUF1907|Domain of unknown function DUF1907|Domain of unknown function DUF1907;Domain of unknown function DUF1907|Domain of unknown function DUF1907|Domain of unknown function DUF1907;Domain of unknown function DUF1907|Domain of unknown function DUF1907|Domain of unknown function DUF1907;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	197.47	20	chr11	93754023	.	G	A	197.47	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.44;DP=95;ExcessHet=0;FS=1.922;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.87;ReadPosRankSum=-0.348;SOR=1.402	GT:AD:DP:GQ:PL	0/1:12,8:20:99:207,0,278	5	0	1	1
chr11	95027059	95027059	T	A	exonic	KDM4E	.	nonsynonymous SNV	KDM4E:NM_001161630:exon1:c.T1502A:p.M501K	.	430	1053	36	3	0	42	0.0195531	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166	.	0.0053	0.00878594	0.0220	0.0012	0.0184	0	0	0.0142	0.0181	0.0344	0.0037322	577	154602	rs138237692	0.0069	0.0065	0.0062	0.0076	0.0326	0.0068	0.0067	0.0316	0.0312	0.0013	0.0024	0.0315	0.0001	0.0008	0.0233	0.0049	0.0093	0.0326	0.0046	0.0046	0.0043	0.0048	0.0292	0.0043	0.0042	0.0253	0.0238	0.0009	0	0.0026	0.0305	0.0002	0.0004	0.0102	0.0051	0.0061	0.0292	0.001	0.78490	D	0.002	0.79402	D	0.813	0.45457	P	0.053	0.25678	B	.	.	.	.	1	0.08975	N	1.445	0.36358	L	1.66	0.27486	T	-0.76	0.21215	N	0.097	0.07811	-1.0483	0.14875	T	0.024	0.10103	T	9	0.003069669	0.00051	T	.	.	.	0.166	0.42578	.	.	.	.	0.6004198705781656	0.59972	0.56785414273	0.53028	0.431474715471	0.29409	T	0.004693	0.04103	T	-0.503249	0.00548	T	-0.470592	0.25453	T	0.0105413857863969	0.00146	T	0.271273	0.04576	T	0.4697091	0.65272	0.35971227	0.61425	0.4697091	0.65273	0.35971227	0.61425	-2.291	0.04506	T	.	.	0.087	0.10979	B	.	.	0.395647	0.07671	4.341	0.81177585983080713	0.13557	0.02618	0.07200	N	AEFGBI	0.034436	0.04266	N	-0.712274400931302	0.15677	0.7921231	-0.856568180653819	0.13130	0.6794357	0.621212821137092	0.21887	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.82	1.82	0.24209	-0.467000	0.06741	-3.521000	0.02724	-0.371000	0.05444	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.0:0.0:1.0	5.691	0.17102	944	0.12746	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.019360	0.017045	0.024691	0.030769	0.000000	0.017857	0.022321	0.020548	0.07143	668.63	31	chr11	95027059	.	T	A	668.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.12;DP=235;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=21.57;ReadPosRankSum=2.01;SOR=0.638	GT:AD:DP:GQ:PL	0/1:10,21:31:99:679,0,275	6	0	1	0
chr11	96384356	96384356	C	T	exonic	CCDC82	.	nonsynonymous SNV	CCDC82:NM_001318737:exon4:c.G392A:p.S131N,CCDC82:NM_001363594:exon4:c.G392A:p.S131N,CCDC82:NM_024725:exon4:c.G392A:p.S131N,CCDC82:NM_001318736:exon5:c.G392A:p.S131N	.	488	991	37	6	0	49	0.024126	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	.	0.0022	0.00499201	0.0059	0	0.0034	0.0002	0.0003	0.0034	0.0133	0.0263	0.0051293	793	154602	rs143022124	0.0020	0.0020	0.0013	0.0026	0.0179	0.0019	0.0019	0.0172	0.0169	0.0003	0.0013	0.0023	2.521e-05	0.0001	0.0106	0.0009	0.0022	0.0179	0.0029	0.0029	0.0023	0.0036	0.0301	0.0027	0.0026	0.0261	0.0246	0.0004	0	0.0028	0.0023	0	9.432e-05	0.0136	0.0033	0.0024	0.0301	1.0	0.00964	T	0.501	0.11153	T	0.002	0.09854	B	0.005	0.11217	B	0.512704	0.05156	N	1.233760	1	0.08975	N	0.805	0.20218	L	1.81	0.25182	T	-0.26	0.11185	N	0.042	0.01498	-1.0088	0.27292	T	0.043	0.18701	T	10	0.0033774972	0.00059	T	.	.	.	0.018	0.03083	.	.	0.159798565429	0.15598	0.03132535768265218	0.03081	0.0574924983243	0.06368	0.307645320892	0.11552	T	0.001217	0.00709	T	-0.661212	0.00062	T	-0.727489	0.04443	T	0.00389319789664587	0.00041	T	0.332367	0.08817	T	0.18073986	0.39209	0.06620944	0.13531	0.18073986	0.39209	0.06620944	0.13530	-6.996	0.55445	T	.	.	0.078	0.20896	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	0.559908	0.09286	6.066	0.88297889401585861	0.17867	0.06405	0.12408	N	AEFDGBHCI	0.037299	0.05108	N	-1.04098532032772	0.07766	0.3618497	-1.11817198183985	0.07352	0.3573358	0.999549943018494	0.40300	0.722319	0.85440	0	0.724815	0.89359	0	0.608884	0.39905	0	0.735409	0.98432	0	.	.	4.48	-1.45	0.08365	-0.764000	0.04841	-0.229000	0.10694	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.2623:0.3623:0.1287:0.2467	0.874	0.01142	.	.	Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;.;Domain of unknown function DUF4196	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.017623	0.005051	0.005435	0.002924	0.050000	0.043103	0.024390	0.053030	0.1429	3139.24	120	chr11	96384356	.	C	T	3139.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.36;DP=518;ExcessHet=0.3476;FS=2.96;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=9.15;ReadPosRankSum=1.32;SOR=0.859	GT:AD:DP:GQ:PL	0/1:60,60:120:99:1501,0,1430	5	0	2	0
chr11	108510951	108510951	A	C	exonic	EXPH5	.	nonsynonymous SNV	EXPH5:NM_001144765:exon3:c.T3992G:p.L1331R,EXPH5:NM_001144764:exon4:c.T4088G:p.L1363R,EXPH5:NM_001144763:exon6:c.T4328G:p.L1443R,EXPH5:NM_015065:exon6:c.T4556G:p.L1519R,EXPH5:NM_001308019:exon7:c.T4535G:p.L1512R	Epidermolysis bullosa, nonspecific, autosomal recessive, Autosomal recessive	424	1083	15	0	0	15	0.00687758	.	.	.	1455390	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.112	0.010724032914	0.0003	.	0.0005	0.0003	0.0007	0	0	0.0007	0.0011	0.0002	0.0004786	74	154602	rs140766467	0.0005	0.0005	0.0004	0.0005	0.0116	0.0005	0.0004	0.0094	0.0086	0.0002	0.0010	7.655e-05	0	0	0.0116	0.0005	0.0008	0.0002	0.0004	0.0004	0.0003	0.0004	0.0007	0.0003	0.0003	0.0004	0.0003	9.628e-05	0	0.0007	0	0	0	0.0068	0.0005	0.0024	0.0002	0.008	0.58626	D	0.25	0.23707	T	.	.	.	.	.	.	0.028885	0.25534	N	0.338236	0.999996	0.08975	N	.	.	.	3.89	0.04014	T	-2.65	0.73788	D	0.225	0.56919	-1.0618	0.11312	T	0.032	0.13942	T	10	0.034558415	0.01668	T	0.010724	0.27578	T	0.112	0.31546	.	.	0.342168650903	0.33825	0.20203287735326667	0.20120	0.303277129939	0.32650	0.267671763897	0.05839	T	0.135641	0.46757	T	-0.419671	0.01719	T	-0.451018	0.27584	T	0.0316073637662647	0.02242	T	0.743426	0.36288	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.25133	B	.;.;.	.;.;.	2.623839	0.34107	19.53	0.99668327807882495	0.78394	0.24089	0.22284	N	AEFDGBI	0.132037	0.25119	N	0.0557397263217358	0.44408	2.71533	-0.105103396036077	0.35184	2.032547	0.997812506045755	0.36062	0.615465	0.37627	0	0.633656	0.55848	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	5.72	4.59	0.56297	1.362000	0.33752	4.560000	0.43837	0.756000	0.94297	0.010000	0.18352	0.939000	0.28734	0.652000	0.32748	0.7967:0.0:0.2033:0.0	5.781	0.17571	819	0.41190	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.014602	0.005051	0.029891	0.011696	0.000000	0.008621	0.006098	0.000000	0.07143	1413.53	122	chr11	108510951	.	A	C	1413.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.015;DP=342;ExcessHet=0;FS=0.666;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.59;ReadPosRankSum=-1.589;SOR=0.624	GT:AD:DP:GQ:PL	0/1:59,63:122:99:1424,0,1572	6	0	1	0
chr11	111354295	111354295	G	A	exonic	POU2AF1	.	nonsynonymous SNV	POU2AF1:NM_006235:exon5:c.C737T:p.A246V	.	424	1094	4	0	0	4	0.00182482	.	.	.	2301889	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.054	0.00279342309543	0.0003	.	0.0005	0	0.0003	0	0	0.0006	0.0011	0.0011	0.0004916	76	154602	rs140834337	0.0003	0.0003	0.0003	0.0004	0.0028	0.0003	0.0003	0.0017	0.0014	0.0003	0.0003	0.0008	0	3.744e-05	0.0028	0.0003	0.0006	0.0008	0.0003	0.0003	0.0003	0.0003	0.0012	0.0002	0.0002	0.0005	0.0004	9.616e-05	0	6.533e-05	0.0014	0	9.414e-05	0	0.0004	0.0014	0.0012	0.34	0.12714	T	0.362	0.16865	T	0.002	0.09854	B	0.002	0.06944	B	0.131179	0.18632	N	0.450401	1	0.08975	N	0.345	0.11182	N	1.65	0.27650	T	-1.0	0.26422	N	0.049	0.02088	-1.0582	0.12209	T	0.036	0.15465	T	10	0.024559349	0.00680	T	0.002793	0.05810	T	0.054	0.15330	.	.	0.151262610727	0.14761	0.2703619961533094	0.26949	0.262623937004	0.28828	0.303922563791	0.10988	T	0.135688	0.46764	T	-0.587453	0.00174	T	-0.67296	0.07420	T	0.025804669016672	0.01379	T	0.725927	0.34027	T	0.023682442	0.01129	0.029200047	0.01233	0.023682442	0.01129	0.029200047	0.01232	-3.515	0.16642	T	.	.	0.088	0.11701	B	.	.	1.096320	0.14803	11.34	0.98195549993933096	0.39071	0.08195	0.14155	N	AEFDBCI	0.050982	0.08964	N	-0.724688513207624	0.15329	0.7715872	-0.675349979236421	0.17578	0.9352882	0.999967042296326	0.48965	0.67177	0.52595	0	0.702456	0.74545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.07	0.71	0.17313	0.936000	0.28536	4.083000	0.41752	0.676000	0.76740	0.035000	0.20724	0.791000	0.26863	0.280000	0.24017	0.2095:0.1149:0.3686:0.307	1.341	0.02024	420	0.81451	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	531.44	55	chr11	111354295	.	G	A	531.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.516;DP=239;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.66;ReadPosRankSum=0.626;SOR=0.796	GT:AD:DP:GQ:PL	0/1:30,25:55:99:542,0,715	6	0	1	0
chr11	114063505	114063505	C	A	exonic	ZBTB16	.	nonsynonymous SNV	ZBTB16:NM_001354752:exon1:c.C205A:p.H69N,ZBTB16:NM_001018011:exon2:c.C205A:p.H69N,ZBTB16:NM_001354750:exon2:c.C205A:p.H69N,ZBTB16:NM_001354751:exon2:c.C205A:p.H69N,ZBTB16:NM_006006:exon2:c.C205A:p.H69N	Leukemia, acute promyelocytic, PL2F/RARA type (3);Skeletal defects, genital hypoplasia, and mental retardation, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.0332551066821	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1435197148	7.525e-06	7.524e-06	4.084e-06	1.1e-05	8.993e-06	4.04e-06	2.95e-06	4.55e-06	3.32e-06	0	0	0	0	0	0	8.993e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.40319	D	0.004	0.74150	D	0.295	0.32424	B	0.068	0.27651	B	0.000000	0.84330	D	0.046324	1	0.81001	D	1.06	0.26948	L	-0.2	0.66113	T	-0.42	0.14193	N	0.797	0.79310	-0.8997	0.48024	T	0.164	0.50160	T	10	0.3750264	0.53765	T	0.033255	0.54854	D	0.151	0.39764	0.513	0.61153	0.606841231823	0.60368	0.5862602588354062	0.58556	0.749165256584	0.63679	0.924250006676	0.98629	D	0.406997	0.76273	T	-0.0318223	0.47151	T	-0.283487	0.46446	T	0.71563732624054	0.41479	D	0.855414	0.54290	D	0.3395394	0.56243	0.16136487	0.37538	0.3395394	0.56243	0.16136487	0.37537	-7.756	0.59396	D	.	.	0.2	0.42361	B	.;.;.;.	.;.;.;.	4.962384	0.82058	27.7	0.94498198059058192	0.24969	0.96031	0.67221	D	AEFDBHCI	0.892396	0.82928	D	0.124016860940013	0.47584	2.982155	0.316276367672486	0.56495	3.81298	0.999999999991681	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.563428	0.18855	0	0.491896	0.07777	0	.	.	5.32	5.32	0.75377	6.106000	0.71175	7.658000	0.64072	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:1.0:0.0:0.0	19.370	0.94470	919	0.19497	BTB/POZ domain|BTB/POZ domain|BTB/POZ domain;BTB/POZ domain|BTB/POZ domain|BTB/POZ domain;BTB/POZ domain|BTB/POZ domain|BTB/POZ domain;BTB/POZ domain|BTB/POZ domain|BTB/POZ 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	.	.	.	.	.	.	.	.	0.07143	1650.45	153	chr11	114063505	.	C	A	1650.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.096;DP=337;ExcessHet=0;FS=1.265;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.79;ReadPosRankSum=-1.647;SOR=0.577	GT:AD:DP:GQ:PL	0/1:79,74:153:99:1661,0,1937	6	0	1	0
chr11	117428363	117428363	C	T	exonic	DSCAML1	.	nonsynonymous SNV	DSCAML1:NM_020693:exon33:c.G6127A:p.A2043T	.	427	1089	6	0	0	6	0.00274725	.	.	.	1605921	not_provided|DSCAML1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.037	0.0372581878692	0.0015	0.000599042	0.0016	0.0002	0.0010	0	0.0005	0.0026	0.0023	6.128e-05	0.0014618	226	154602	rs143875346	0.0025	0.0025	0.0025	0.0024	0.0030	0.0024	0.0024	0.0029	0.0028	0.0002	0.0012	0.0016	0	0.0005	0.0020	0.0030	0.0029	9.551e-05	0.0019	0.0019	0.0022	0.0016	0.0032	0.0017	0.0017	0.0029	0.0028	0.0008	0	0.0012	0.0029	0	0.0004	0.0068	0.0032	0.0028	0	0.305	0.17183	T	0.597	0.09522	T	.	.	.	.	.	.	.	.	.	.	0.999968	0.52935	D	.	.	.	-0.01	0.63568	T	-0.58	0.18248	N	0.145	0.40765	-0.9977	0.30563	T	0.134	0.44778	T	9	0.00686422	0.00156	T	0.037258	0.57503	D	0.037	0.09474	.	.	0.433847406099	0.43006	0.2411843965476237	0.24032	0.00910728076374	0.00827	0.637237906456	0.58172	T	.	.	.	-0.357314	0.04284	T	-0.290024	0.45770	T	0.0560602788444198	0.06534	T	0.752425	0.37456	T	.	.	.	.	.	.	.	.	-4.177	0.26417	T	.	.	0.096	0.15520	B	.;.	.;.	1.913234	0.24300	16.34	0.98931339092937598	0.48750	0.97684	0.76395	D	AEFDBI	0.510400	0.53947	D	-0.317372854446626	0.28488	1.571727	-0.203899116462117	0.31396	1.776402	0.999306784289065	0.39077	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.27	3.35	0.37468	3.780000	0.55092	0.549000	0.19403	-0.235000	0.07621	0.995000	0.38783	0.077000	0.22320	0.928000	0.46473	0.0:0.8463:0.1537:0.0	13.895	0.63271	848	0.35897	.;.	.	.	.	.	.	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	0.005035	0.005051	0.004076	0.002924	0.000000	0.008621	0.012195	0.000000	0.07143	610.45	43	chr11	117428363	.	C	T	610.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.83;DP=213;ExcessHet=0;FS=1.186;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.2;ReadPosRankSum=1.55;SOR=0.922	GT:AD:DP:GQ:PL	0/1:16,27:43:99:621,0,266	6	0	1	0
chr11	118532154	118532154	G	C	exonic	TMEM25	.	nonsynonymous SNV	TMEM25:NM_001144034:exon3:c.G75C:p.W25C,TMEM25:NM_001144035:exon3:c.G75C:p.W25C,TMEM25:NM_001144037:exon3:c.G75C:p.W25C,TMEM25:NM_001144038:exon3:c.G75C:p.W25C,TMEM25:NM_001318755:exon3:c.G75C:p.W25C,TMEM25:NM_001318757:exon3:c.G75C:p.W25C,TMEM25:NM_032780:exon3:c.G75C:p.W25C	.	422	1078	22	0	0	22	0.010101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	.	0.0092	0.00698882	0.0169	0.0281	0.0113	0.0003	0.0053	0.0198	0.0286	0.0084	0.0075484	1167	154602	rs35915434	0.0081	0.0081	0.0081	0.0081	0.0194	0.0080	0.0079	0.0165	0.0153	0.0160	0.0056	0.0157	5.118e-05	0.0036	0.0194	0.0085	0.0075	0.0041	0.0095	0.0095	0.0102	0.0087	0.0146	0.0091	0.0089	0.0136	0.0132	0.0146	0.0493	0.0062	0.0164	0	0.0024	0.0442	0.0085	0.0047	0.0031	0.021	0.53172	D	0.04	0.65728	D	0.0	0.65571	B	0.0	0.51908	B	0.001093	0.40303	N	0.176289	0.997138	0.81001	D	1.87	0.49600	L	2.3	0.30133	T	-2.12	0.91395	N	0.334	0.38848	-1.1085	0.03201	T	0.043	0.18326	T	10	0.006802678	0.00155	T	.	.	.	0.079	0.23065	0.252	0.19067	0.0986583533028	0.09354	0.6947654204807727	0.69417	0.22818053352	0.25372	0.571099042892	0.48834	T	0.078915	0.36005	T	-0.451457	0.01108	T	-0.40829	0.32422	T	0.00937457569547086	0.00120	T	0.765923	0.39354	T	0.2311183	0.45878	0.16963321	0.39011	0.2311183	0.45878	0.16963321	0.39010	-2.912	0.09559	T	.	.	0.277	0.55487	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	1.764781	0.22442	15.62	0.98477695238953178	0.41931	0.85246	0.44362	D	AEFDBI	0.251787	0.37159	N	-0.39224383228242	0.25744	1.399828	-0.315853451040397	0.27586	1.532	0.999955652262329	0.48110	0.72623	0.87236	0	0.627608	0.54475	0	0.594344	0.31042	0	0.669	0.65921	0	.	.	5.19	1.07	0.19399	0.929000	0.28445	1.009000	0.23318	-0.110000	0.15115	0.983000	0.35670	1.000000	0.68203	0.995000	0.73285	0.0828:0.0:0.4638:0.4534	6.757	0.22705	321	0.86949	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.014646	0.015306	0.019074	0.017544	0.000000	0.008621	0.015337	0.003788	0.08333	284.27	19	chr11	118532154	.	G	C	284.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.94;DP=196;ExcessHet=0;FS=2.017;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.96;ReadPosRankSum=-1.757;SOR=1.371	GT:AD:DP:GQ:PL	0/1:9,10:19:99:294,0,217	5	0	1	1
chr11	118555075	118555075	G	A	exonic	IFT46	.	nonsynonymous SNV	IFT46:NM_001168618:exon6:c.C269T:p.P90L,IFT46:NM_020153:exon7:c.C422T:p.P141L	.	425	1083	14	0	0	14	0.00642202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.507	0.118571185948	0.0006	0.000798722	0.0009	0	0.0006	0	0.0005	0.0010	0.0011	0.0021	0.0008797	136	154602	rs143391860	0.0006	0.0006	0.0005	0.0007	0.0031	0.0006	0.0006	0.0020	0.0017	5.983e-05	0.0003	0.0019	0	0.0002	0.0031	0.0005	0.0007	0.0019	0.0004	0.0004	0.0004	0.0005	0.0008	0.0004	0.0003	0.0005	0.0005	4.813e-05	0.0011	0.0003	0.0017	0	9.422e-05	0	0.0007	0.0014	0.0008	0.002	0.78490	D	0.003	0.76473	D	0.993	0.77913	D	0.916	0.75168	D	0.000004	0.62929	D	0.106561	1	0.81001	D	3.165	0.88605	M	0.03	0.64630	T	-7.76	0.97138	D	0.872	0.86941	0.143	0.84933	D	0.518	0.81995	D	10	0.06347144	0.08273	T	0.118571	0.79865	D	0.507	0.78786	.	.	0.388425449554	0.38455	0.6012162632722131	0.60052	0.710200166085	0.61670	0.640157163143	0.58587	T	0.432962	0.81290	T	-0.139941	0.29899	T	0.0189441	0.71562	D	0.234996899962425	0.22188	T	0.988851	0.96210	D	0.6548184	0.75621	0.6909232	0.81812	0.6548184	0.75622	0.6909232	0.81813	-11.854	0.84132	D	.	.	0.638	0.78471	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.317055	0.89247	29.9	0.9986057309193106	0.93911	0.97808	0.77284	D	AEFBI	0.835436	0.75334	D	0.905357124738942	0.92021	11.18954	0.859972360870844	0.93585	12.14131	0.904853044677183	0.26189	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.45	5.45	0.79688	7.441000	0.79617	11.656000	0.93934	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	19.645	0.95770	325	0.86759	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.005051	0.005435	0.000000	0.000000	0.008621	0.003049	0.003788	0.08333	803.27	62	chr11	118555075	.	G	A	803.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.98;DP=233;ExcessHet=0;FS=4.921;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.96;ReadPosRankSum=1.18;SOR=1.074	GT:AD:DP:GQ:PL	0/1:32,30:62:99:813,0,768	5	0	1	1
chr11	118908600	118908600	C	T	exonic	BCL9L	.	nonsynonymous SNV	BCL9L:NM_182557:exon2:c.G82A:p.G28S,BCL9L:NM_001378213:exon4:c.G82A:p.G28S	.	429	1088	5	0	0	5	0.00229253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.242	0.0204875198448	0.0004	0.000399361	0.0006	0.0002	0.0004	0	0	0.0009	0.0022	0.0004	0.0005951	92	154602	rs145433932	0.0009	0.0009	0.0010	0.0009	0.0012	0.0009	0.0009	0.0011	0.0010	0.0002	0.0004	0.0006	2.519e-05	0.0001	0.0012	0.0011	0.0007	0.0005	0.0005	0.0005	0.0006	0.0004	0.0008	0.0004	0.0004	0.0006	0.0006	0.0002	0	0.0004	0.0003	0	9.425e-05	0	0.0008	0	0.0004	0.0	0.91255	D	1.0	0.01155	T	0.98	0.59353	D	0.368	0.43478	B	0.002597	0.36278	N	0.000000	0.959731	0.26174	N	0.345	0.11182	N	-0.33	0.68329	T	-0.41	0.41809	N	0.451	0.48872	-0.8818	0.49617	T	0.125	0.42966	T	10	0.027073383	0.00860	T	0.020488	0.43095	T	0.242	0.54781	.	.	0.486517018974	0.48284	0.16921036034583253	0.16841	0.67402453772	0.59623	0.672547876835	0.63201	T	0.098735	0.40285	T	-0.241456	0.15163	T	-0.193725	0.55241	T	0.047266088469494	0.05012	T	0.80032	0.46129	T	0.2783284	0.50887	0.24574414	0.50068	0.2783284	0.50886	0.24574414	0.50067	-3.166	0.12070	T	.	.	0.106	0.27161	B	.;.	.;.	4.557005	0.71774	25.7	0.9987487369114918	0.95244	0.86111	0.45331	D	AEFBCI	0.209703	0.33566	N	0.245204026039935	0.53401	3.509205	0.346705713258738	0.58311	4.000745	0.999992663545119	0.74766	0.722319	0.85440	0	0.633656	0.55848	0	0.698795	0.65105	0	0.683762	0.67416	0	.	.	5.69	4.72	0.59248	1.326000	0.33341	5.837000	0.50214	0.599000	0.40250	0.990000	0.36992	1.000000	0.68203	0.992000	0.67800	0.1426:0.7199:0.1375:0.0	11.186	0.47882	309	0.87553	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	583.63	44	chr11	118908600	.	C	T	583.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.397;DP=218;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.26;ReadPosRankSum=0.024;SOR=0.608	GT:AD:DP:GQ:PL	0/1:20,24:44:99:594,0,438	6	0	1	0
chr11	118979010	118979010	C	G	exonic	FOXR1	.	nonsynonymous SNV	FOXR1:NM_181721:exon3:c.C190G:p.P64A	.	429	1082	11	0	0	11	0.00505747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.136	0.401102286755	0.0057	0.00119808	0.0044	0.0017	0.0043	0	0.0003	0.0068	0.0057	0.0001	0.0045084	697	154602	rs45602538	0.0067	0.0067	0.0069	0.0065	0.0080	0.0066	0.0065	0.0079	0.0078	0.0011	0.0034	0.0091	5.054e-05	0.0008	0.0028	0.0080	0.0061	0.0002	0.0043	0.0043	0.0047	0.0039	0.0073	0.0041	0.0040	0.0068	0.0066	0.0016	0	0.0024	0.0118	0	0.0002	0.0068	0.0073	0.0052	0.0006	0.014	0.53172	D	0.022	0.57587	D	0.963	0.55692	D	0.564	0.49695	P	0.000001	0.84330	D	0.057101	0.999992	0.58761	D	2.485	0.72352	M	-4.37	0.97343	D	-3.8	0.71762	D	0.468	0.50418	0.754	0.93840	D	0.856	0.95186	D	10	0.007909238	0.00179	T	0.401102	0.93399	D	0.601	0.84237	.	.	0.978007857545	0.97776	0.32811968395035235	0.32724	0.607201376569	0.55536	0.356424987316	0.18864	T	0.316103	0.68766	T	-0.133102	0.30996	T	0.0483559	0.73475	D	0.0499710597967564	0.05495	T	.	.	.	0.23834144	0.46711	0.31269622	0.57270	0.23834144	0.46711	0.31269622	0.57269	-3.563	0.17324	T	.	.	0.131	0.28203	B	.	.	3.329037	0.45818	22.2	0.98620284075857068	0.43771	0.96685	0.70394	D	AEFDBI	0.266955	0.38376	N	0.260855350639023	0.54179	3.584069	0.164813835703459	0.47931	3.016169	0.999394831798296	0.39470	0.446893	0.09132	0	0.563428	0.19063	0	0.578056	0.29568	0	0.530356	0.10902	0	.	.	5.69	4.78	0.60666	4.192000	0.58176	4.030000	0.41330	0.599000	0.40250	0.995000	0.38783	1.000000	0.68203	0.971000	0.54645	0.0:0.9121:0.0:0.0879	10.719	0.45226	195	0.92448	.	.	.	.	.	.	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	0.002014	0.000000	0.000000	0.005848	0.000000	0.000000	0.006098	0.000000	0.07143	654.83	76	chr11	118979010	.	C	G	654.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.648;DP=246;ExcessHet=0;FS=0.909;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.62;ReadPosRankSum=-0.215;SOR=0.522	GT:AD:DP:GQ:PL	0/1:48,28:76:99:665,0,1321	6	0	1	0
chr11	124016178	124016178	A	G	exonic	OR10G4	.	nonsynonymous SNV	OR10G4:NM_001004462:exon1:c.A604G:p.I202V	.	433	1086	2	1	0	4	0.00183824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00582896675969	.	.	1.647e-05	0	0	0	0	2.997e-05	0	0	3.84e-05	1	26028	rs746674745	2.736e-06	2.736e-06	2.722e-06	2.75e-06	3.597e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.597e-06	0	0	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	0.811	0.03028	T	0.753	0.04754	T	0.001	0.07471	B	0.011	0.15521	B	0.007074	0.31620	N	0.144205	0.999211	0.21497	N	-0.18	0.04256	N	1.26	0.36330	T	0.01	0.06868	N	0.045	0.01740	-1.0585	0.12134	T	0.039	0.16806	T	10	0.06883666	0.09792	T	0.005829	0.15161	T	0.015	0.02232	0.273	0.22369	0.137902524267	0.13322	0.09333638095506697	0.09265	0.398644923858	0.40916	0.193156719208	0.00286	T	0.00223	0.01633	T	-0.271083	0.11636	T	-0.611683	0.11849	T	0.0306153624272855	0.02085	T	0.463154	0.13467	T	0.037406515	0.04789	0.03238958	0.01968	0.037406515	0.04789	0.03238958	0.01968	-2.269	0.04389	T	.	.	0.140	0.31431	B	.;.;.	.;.;.	-0.277087	0.02718	0.358	0.20038182472862653	0.00703	0.08335	0.14278	N	AEFI	0.047488	0.08001	N	-1.49823864654518	0.01863	0.08170011	-1.50568738231049	0.02300	0.1055616	5.34340564699367E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.33	0.829	0.17984	0.105000	0.15169	-10.705000	0.00674	-1.120000	0.01474	0.001000	0.13787	0.000000	0.08366	0.004000	0.06068	0.7035:0.0:0.1118:0.1848	3.913	0.08712	808	0.43318	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	4302.44	372	chr11	124016178	.	A	G	4302.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.898;DP=1799;ExcessHet=0;FS=1.703;MLEAC=1;MLEAF=0.071;MQ=58.5;MQRankSum=-0.629;QD=11.57;ReadPosRankSum=-0.612;SOR=0.794	GT:AD:DP:GQ:PL	0/1:189,183:372:99:4313,0,4783	6	0	1	0
chr11	124571017	124571017	G	A	exonic	OR8A1	.	nonsynonymous SNV	OR8A1:NM_001005194:exon1:c.G898A:p.V300M	.	432	1085	4	1	0	6	0.00275735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	0.0055	0.00838658	0.0017	0.0159	0.0012	0	0	0.0003	0.0022	0.0003	0.0017076	264	154602	rs116716423	0.0007	0.0007	0.0008	0.0007	0.0190	0.0007	0.0007	0.0178	0.0173	0.0190	0.0015	3.841e-05	0.0002	0	0.0040	0.0002	0.0018	0.0005	0.0041	0.0041	0.0040	0.0042	0.0133	0.0038	0.0037	0.0124	0.0120	0.0133	0	0.0030	0	0.0002	0	0.0102	0.0002	0.0052	0	.	.	.	.	.	.	0.0	0.02946	B	0.001	0.04355	B	0.379518	0.04411	N	1.512350	1	0.08975	N	-0.08	0.04796	N	.	.	.	.	.	.	.	.	-1.0068	0.27912	T	0.013	0.04890	T	10	0.0035787225	0.00065	T	.	.	.	0.035	0.08770	.	.	0.0986583533028	0.09354	0.09097398753495536	0.09030	0.0633483782219	0.07056	0.180566951632	0.00099	T	0.010737	0.09664	T	-0.717567	0.00029	T	-0.791188	0.02132	T	0.010253665684161	0.00139	T	0.670833	0.27951	T	0.020424966	0.00601	0.03445628	0.02516	0.020424966	0.00600	0.03445628	0.02516	-3.448	0.15711	T	.	.	0.084	0.10304	B	.;.;.	.;.;.	-0.356609	0.02380	0.262	0.4036593830135598	0.02844	0.00616	0.02727	N	AEFBI	0.021889	0.01028	N	-2.06202047637857	0.00155	0.006637934	-2.17368830722708	0.00128	0.005634801	0.999985128181917	0.51787	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.08	-10.2	0.00305	-5.126000	0.00175	.	.	-1.300000	0.01245	0.000000	0.06391	0.000000	0.08366	0.019000	0.11356	0.1033:0.3762:0.3977:0.1227	7.518	0.26779	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	0.010574	0.015152	0.021739	0.008772	0.000000	0.008621	0.003049	0.000000	0.07143	959.44	76	chr11	124571017	.	G	A	959.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.592;DP=271;ExcessHet=0;FS=0.874;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.62;ReadPosRankSum=-0.983;SOR=0.576	GT:AD:DP:GQ:PL	0/1:37,39:76:99:970,0,906	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	0/1:5,4:9:99:153,0,198	3	1	3	0
chr11	134359072	134359072	C	T	exonic	GLB1L2	.	nonsynonymous SNV	GLB1L2:NM_001370460:exon7:c.C664T:p.R222C,GLB1L2:NM_001370461:exon7:c.C664T:p.R222C,GLB1L2:NM_001370462:exon7:c.C664T:p.R222C,GLB1L2:NM_138342:exon7:c.C664T:p.R222C	.	.	.	.	.	.	.	.	.	.	.	3681205	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.273	0.324894195192	.	.	3.412e-05	0	0	0	0	0	0	0.0003	3.23e-05	5	154602	rs755604496	3.934e-05	4.173e-05	3.431e-05	4.442e-05	0.0004	3.074e-05	2.807e-05	0.0003	0.0003	0	2.327e-05	7.759e-05	0	0	0	1.538e-05	3.339e-05	0.0004	3.285e-05	3.283e-05	1.284e-05	5.381e-05	0.0004	1.261e-05	7.98e-06	7.282e-05	3.026e-05	0	0	0	0.0003	0	0	0	2.94e-05	0	0.0004	0.0	0.91255	D	0.025	0.56192	D	1.0	0.90584	D	0.969	0.72001	D	0.000000	0.84330	D	0.000000	0.955929	0.37949	D	2.77	0.80896	M	-4.77	0.98126	D	-7.63	0.95424	D	0.847	0.84609	1.100	0.99674	D	0.954	0.98491	D	10	0.8558073	0.84777	D	0.324894	0.91583	D	0.745	0.91198	0.599	0.72984	0.707775620182	0.70523	0.89463701660123	0.89434	0.751316181784	0.63800	0.518573820591	0.41424	T	0.663539	0.89932	D	0.146281	0.68919	D	0.286604	0.87477	D	0.948252439498901	0.62855	D	0.989679	0.96647	D	0.82241225	0.85383	0.6024307	0.76897	0.82241225	0.85385	0.6024307	0.76898	-11.859	0.84157	D	.	.	0.232	0.47105	B	.;.	.;.	4.591127	0.72620	25.9	0.99880889947926088	0.95733	0.84559	0.43642	D	AEFDBI	0.227319	0.35114	N	0.382271744794709	0.60462	4.235279	0.251115708100708	0.52714	3.44429	0.621620904412214	0.21890	0.700653	0.57754	0	0.588066	0.40923	0	0.717052	0.78885	0	0.567892	0.33627	0	.	.	4.72	2.66	0.30672	1.953000	0.39977	1.014000	0.23354	0.596000	0.33519	0.997000	0.40164	0.442000	0.24909	0.636000	0.32315	0.5304:0.4696:0.0:0.0	10.672	0.44961	970	0.06235	Glycoside hydrolase 35, catalytic domain;Glycoside hydrolase 35, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1418.44	132	chr11	134359072	.	C	T	1418.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.24;DP=325;ExcessHet=0;FS=2.214;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.75;ReadPosRankSum=1.76;SOR=0.678	GT:AD:DP:GQ:PL	0/1:71,61:132:99:1429,0,1522	6	0	1	0
chr12	2688580	2688580	G	A	exonic	CACNA1C	.	nonsynonymous SNV	CACNA1C:NM_001129837:exon45:c.G5942A:p.R1981Q,CACNA1C:NM_001129838:exon45:c.G5942A:p.R1981Q,CACNA1C:NM_001129839:exon45:c.G5936A:p.R1979Q,CACNA1C:NM_001129846:exon45:c.G5885A:p.R1962Q,CACNA1C:NM_000719:exon46:c.G5918A:p.R1973Q,CACNA1C:NM_001129829:exon46:c.G6041A:p.R2014Q,CACNA1C:NM_001129833:exon46:c.G5975A:p.R1992Q,CACNA1C:NM_001129834:exon46:c.G5975A:p.R1992Q,CACNA1C:NM_001129835:exon46:c.G5975A:p.R1992Q,CACNA1C:NM_001129836:exon46:c.G5969A:p.R1990Q,CACNA1C:NM_001129840:exon46:c.G5918A:p.R1973Q,CACNA1C:NM_001129841:exon46:c.G5918A:p.R1973Q,CACNA1C:NM_001129842:exon46:c.G5918A:p.R1973Q,CACNA1C:NM_001129843:exon46:c.G5918A:p.R1973Q,CACNA1C:NM_001129844:exon46:c.G5909A:p.R1970Q,CACNA1C:NM_001167623:exon46:c.G5918A:p.R1973Q,CACNA1C:NM_001167625:exon46:c.G6098A:p.R2033Q,CACNA1C:NM_001129830:exon47:c.G6023A:p.R2008Q,CACNA1C:NM_001129831:exon47:c.G6002A:p.R2001Q,CACNA1C:NM_001129832:exon47:c.G5978A:p.R1993Q,CACNA1C:NM_001167624:exon47:c.G6023A:p.R2008Q,CACNA1C:NM_001129827:exon48:c.G6062A:p.R2021Q,CACNA1C:NM_199460:exon49:c.G6167A:p.R2056Q	Brugada syndrome 3;Timothy syndrome, Autosomal dominant	0	1472	48	2	0	52	0.0173565	.	.	.	99326	Long_QT_syndrome|not_provided|Short_QT_syndrome|CACNA1C-related_disorder|Cardiovascular_phenotype|not_specified	MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976|MedGen:C3661900|MONDO:MONDO:0000453,MedGen:C2348199,OMIM:PS609620,Orphanet:51083|.|MedGen:CN230736|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.183	.	0.0017	0.00319489	0.0036	0.0002	0.0013	0.0001	0.0003	0.0021	0.0045	0.0162	0.0030918	478	154602	rs112414325	0.0023	0.0023	0.0019	0.0028	0.0156	0.0023	0.0022	0.0149	0.0146	0.0002	0.0014	0.0127	0	5.623e-05	0.0080	0.0013	0.0036	0.0156	0.0020	0.0020	0.0016	0.0023	0.0180	0.0018	0.0017	0.0150	0.0138	0.0004	0	0.0018	0.0135	0.0002	0	0.0102	0.0016	0.0043	0.0180	0.484	0.09776	T	0.586	0.11551	T	0.032	0.58535	B	0.005	0.52168	B	0.433660	0.12716	N	0.733016	0.999909	0.52935	D	.	.	.	0.53	0.55090	T	-0.51	0.18459	N	0.317	0.36674	-0.9378	0.42963	T	0.158	0.49060	T	10	0.006121576	0.00138	T	.	.	.	0.183	0.45592	.	.	0.774745351775	0.77267	0.42943405207208213	0.42860	0.220456262239	0.24588	0.339064538479	0.16298	T	0.005257	0.06762	T	-0.393694	0.02546	T	-0.325967	0.41916	T	0.0125000085483832	0.00207	T	.	.	.	.	.	.	.	.	.	.	.	-4.262	0.27641	T	.	.	0.1	0.20469	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.453092	0.48089	22.6	0.82543286476877942	0.14247	0.95520	0.65048	D	AEFDBI	0.740151	0.68449	D	-0.310102523607895	0.28764	1.589257	-0.162370008803943	0.32934	1.878767	0.999316768921301	0.39113	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	4.97	4.97	0.65419	2.576000	0.45698	1.641000	0.27792	0.586000	0.30580	1.000000	0.71638	0.947000	0.28924	0.652000	0.32748	0.0797:0.0:0.9203:0.0	12.655	0.56145	861	0.33516	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007049	0.000000	0.002717	0.000000	0.000000	0.025862	0.018293	0.007576	0.1429	1678.24	141	chr12	2688580	.	G	A	1678.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.618;DP=330;ExcessHet=0.3476;FS=1.258;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=11.04;ReadPosRankSum=1.71;SOR=0.803	GT:AD:DP:GQ:PL	0/1:70,71:141:99:1627,0,1523	5	0	2	0
chr12	5921309	5921309	G	A	exonic	ANO2	.	nonsynonymous SNV	ANO2:NM_001278596:exon3:c.C265T:p.R89C,ANO2:NM_001278597:exon3:c.C253T:p.R85C,ANO2:NM_001364791:exon3:c.C265T:p.R89C	.	426	1093	3	0	0	3	0.00137049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.237	0.122625540484	.	.	2.487e-05	0	0	0	0	4.499e-05	0	0	2.59e-05	4	154602	rs748302845	2.189e-05	2.189e-05	2.042e-05	2.338e-05	2.987e-05	1.584e-05	1.356e-05	1.543e-05	1.304e-05	2.987e-05	0	0	0	0	0	2.248e-05	8.282e-05	1.159e-05	3.286e-05	3.283e-05	3.854e-05	2.69e-05	0.0002	1.261e-05	7.98e-06	8e-06	2.99e-06	4.826e-05	0	6.547e-05	0	0.0002	0	0	1.47e-05	0	0	0.052	0.53900	T	0.051	0.50514	T	.	.	.	.	.	.	0.003403	0.34985	N	0.204069	0.998581	0.45122	D	.	.	.	-0.33	0.68329	T	-0.36	0.13035	N	0.449	0.59223	-0.7339	0.58766	T	0.247	0.61565	T	10	0.31477734	0.48915	T	0.122626	0.80364	D	0.237	0.54074	0.576	0.70087	0.431602765429	0.42780	0.3058286344039055	0.30495	0.3598936142	0.37679	0.468763411045	0.34509	T	0.071288	0.34172	T	-0.139921	0.29902	T	-0.331106	0.41345	T	0.777283847332001	0.44881	D	0.877312	0.59062	D	.	.	.	.	.	.	.	.	-4.035	0.24326	T	.	.	0.141	0.30868	B	.;.;.	.;.;.	4.095556	0.61034	24.3	0.99892863031964563	0.96666	0.79601	0.39476	D	AEFGBCI	0.519368	0.54468	D	0.194325834452823	0.50926	3.278173	0.164092798571547	0.47893	3.012853	0.0539332997054609	0.14955	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.636168	0.56350	0	.	.	5.05	3.09	0.34677	2.823000	0.47781	6.536000	0.55871	0.672000	0.70159	0.998000	0.41325	1.000000	0.68203	0.737000	0.35335	0.0986:0.2725:0.6289:0.0	6.858	0.23236	919	0.19497	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1035.44	76	chr12	5921309	.	G	A	1035.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.04;DP=270;ExcessHet=0;FS=4.508;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.62;ReadPosRankSum=0.005;SOR=1.269	GT:AD:DP:GQ:PL	0/1:35,41:76:99:1046,0,738	6	0	1	0
chr12	6018491	6018491	C	T	exonic	VWF	.	nonsynonymous SNV	VWF:NM_000552:exon28:c.G4927A:p.G1643S	von Willebrand disease, type 1, Autosomal dominant;von Willebrand disease, types 2A, 2B, 2M, and 2N, Autosomal recessive, Autosomal dominant;von Willibrand disease, type 3, Autosomal recessive	1	1509	12	0	0	12	0.0039604	.	.	.	266164	not_provided|von_Willebrand_disease_type_1	MedGen:C3661900|MONDO:MONDO:0008668,MedGen:C1264039,OMIM:193400,Orphanet:166078,Orphanet:903	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.162	0.160264547263	.	.	.	.	.	.	.	.	.	.	.	.	.	rs886042266	6.855e-07	0.0003	1.364e-06	0	2.55e-05	0	0	.	.	0	0	0	2.55e-05	0	0	0	0	0	3.987e-05	0.0014	2.595e-05	5.447e-05	0.0004	1.731e-05	1.14e-05	7.569e-05	3.132e-05	2.439e-05	0	0	0	0.0004	0	0	1.479e-05	0	0.0004	1.0	0.00964	T	1.0	0.01155	T	0.002	0.09854	B	0.007	0.12992	B	0.622881	0.10760	N	0.800246	1	0.08975	N	-0.17	0.04298	N	-1.62	0.82347	D	1.68	0.00591	N	0.056	0.02759	-0.8521	0.51823	T	0.228	0.59296	T	10	0.0630967	0.08169	T	0.160265	0.84030	D	0.162	0.41843	0.574	0.69826	0.21737058555	0.21362	0.5882981791414933	0.58759	0.267909689989	0.29325	0.333105444908	0.15402	T	0.327896	0.69836	T	-0.149613	0.28373	T	-0.452685	0.27400	T	0.0162144067542753	0.00395	T	0.853715	0.53946	D	0.14332709	0.32945	0.067866616	0.14099	0.14332709	0.32945	0.067866616	0.14098	-0.482	0.00573	T	0.05719184728934513	0.01374	0.078	0.06803	B	.	.	-0.013829	0.04188	1.016	0.13516923145724999	0.00269	0.05786	0.11720	N	AEFDGBCI	0.105980	0.21160	N	-1.06452504620559	0.07306	0.3389689	-0.996246155712722	0.09870	0.4935613	0.775192937279552	0.23740	0.67177	0.52595	0	0.563428	0.19063	0	0.547309	0.15389	0	0.711	0.71501	0	.	.	5.03	-0.85	0.10177	0.125000	0.15577	-0.736000	0.07640	0.594000	0.32500	0.020000	0.19661	0.000000	0.08366	0.282000	0.24066	0.0:0.348:0.0:0.652	8.238	0.30798	952	0.10565	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	150.46	35	chr12	6018491	.	C	T	150.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.448;DP=282;ExcessHet=0;FS=7.51;MLEAC=1;MLEAF=0.071;MQ=56.41;MQRankSum=-5.775;QD=4.3;ReadPosRankSum=0.416;SOR=2.27	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:29,6:35:99:0|1:6018491_C_T:161,0,1195:6018491	6	0	1	0
chr12	6516981	6516981	C	T	exonic	NCAPD2	.	nonsynonymous SNV	NCAPD2:NM_014865:exon10:c.C1141T:p.R381W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.683	0.0836545471238	.	.	8.236e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs759487830	4.788e-06	4.788e-06	1.361e-06	8.25e-06	6.295e-06	1.99e-06	1.28e-06	2.62e-06	1.68e-06	0	0	0	0	0	0	6.295e-06	0	0	6.574e-06	6.568e-06	1.285e-05	0	6.551e-05	0	0	.	.	0	0	6.551e-05	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	3.205	0.89189	M	1.66	0.27486	T	-7.96	0.96342	D	0.975	0.98563	-0.5138	0.68146	T	0.222	0.58614	T	10	0.8671564	0.85965	D	0.083655	0.74162	D	0.683	0.88396	0.699	0.83592	0.493628743246	0.48995	0.827111162241432	0.82669	0.763659519793	0.64390	0.831634521484	0.86812	D	0.558248	0.85166	D	0.239199	0.77586	D	0.105816	0.77294	D	0.99815034866333	0.93375	D	0.90091	0.65583	D	0.86661375	0.88596	0.67712235	0.81038	0.86661375	0.88597	0.67712235	0.81038	-12.143	0.85541	D	.	.	0.921	0.84270	P	.;.	.;.	4.659227	0.74356	26.1	0.99918782674997086	0.98586	0.92175	0.55112	D	AEFDBI	0.721853	0.67197	D	0.431142585945395	0.63142	4.542358	0.305957826622625	0.55890	3.751775	0.434369576028067	0.20400	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.44	1.18	0.20058	1.543000	0.35754	0.972000	0.23065	0.599000	0.40250	0.994000	0.38300	0.999000	0.35428	0.998000	0.85391	0.4903:0.5097:0.0:0.0	14.935	0.70598	819	0.41190	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1636.44	114	chr12	6516981	.	C	T	1636.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.37;DP=302;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.35;ReadPosRankSum=-0.233;SOR=0.703	GT:AD:DP:GQ:PL	0/1:47,67:114:99:1647,0,913	6	0	1	0
chr12	7089719	7089719	C	T	exonic	C1R	.	nonsynonymous SNV	C1R:NM_001354346:exon4:c.G481A:p.A161T,C1R:NM_001733:exon4:c.G439A:p.A147T	Ehlers-Danlos syndrome, periodontal type, 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.413	0.30375	T	0.461	0.36901	T	0.085	0.24868	B	0.076	0.28435	B	0.010508	0.29895	N	0.278497	0.998432	0.44913	D	.	.	.	-1.61	0.92613	D	-0.55	0.22727	N	0.037	0.09207	-0.4533	0.70291	T	0.509	0.81537	D	9	0.1717329	0.31909	T	.	.	.	0.148	0.39182	0.485	0.56780	0.851824492466	0.85039	0.253742368127128	0.25288	.	.	0.348453998566	0.17694	T	0.020643	0.18916	T	0.0313628	0.55905	T	-0.192726	0.55334	T	0.700087487697601	0.40723	D	0.689731	0.32236	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.07083	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.011798	0.25564	16.81	0.79351670855620648	0.12702	0.43314	0.27070	N	AEFDBCI	0.654453	0.62713	D	-0.761265941448551	0.14329	0.7128863	-0.705396381340614	0.16827	0.8919407	0.999988064452671	0.51787	0.643511	0.44296	0	0.670034	0.63936	0	0.688494	0.62686	0	0.616125	0.45549	0	.	.	5.4	2.55	0.29757	0.792000	0.26590	0.580000	0.19696	0.549000	0.26987	0.807000	0.29812	0.270000	0.24042	0.797000	0.37605	0.0:0.7967:0.0:0.2033	10.641	0.44784	625	0.65529	.;.;EGF-like calcium-binding, conserved site|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding, conserved site|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding, conserved site|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding, conserved site|EGF-like calcium-binding domain;EGF-like calcium-binding, conserved site;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	996.44	70	chr12	7089719	.	C	T	996.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.103;DP=263;ExcessHet=0;FS=0.964;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.23;ReadPosRankSum=-0.407;SOR=0.492	GT:AD:DP:GQ:PL	0/1:32,38:70:99:1007,0,776	6	0	1	0
chr12	11091839	11091839	C	T	exonic	TAS2R43	.	nonsynonymous SNV	TAS2R43:NM_176884:exon1:c.G391A:p.V131M	.	459	1026	32	5	0	42	0.0200573	.	.	.	2810184	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.023	.	0.0050	0.00399361	0.0046	0.0011	0.0035	0	0.0005	0.0066	0.0126	0.0033	0.0039909	617	154602	rs186718859	0.0049	0.0046	0.0049	0.0049	0.0390	0.0048	0.0048	0.0348	0.0332	0.0013	0.0053	0.0234	2.529e-05	0.0003	0.0390	0.0047	0.0080	0.0036	0.0050	0.0045	0.0051	0.0050	0.0115	0.0047	0.0046	0.0100	0.0094	0.0010	0	0.0115	0.0294	0	0.0001	0.0483	0.0059	0.0072	0.0031	0.225	0.18626	T	0.189	0.28575	T	0.795	0.44777	P	0.714	0.54635	P	.	.	.	.	1	0.08975	N	1.95	0.52479	M	5.7	0.00742	T	-1.21	0.30762	N	0.088	0.06587	-0.8727	0.50326	T	0.003	0.00961	T	9	0.01653698	0.00349	T	.	.	.	0.023	0.04649	.	.	0.21737058555	0.21362	0.11926794117223397	0.11853	0.187907574998	0.21116	0.252214491367	0.04005	T	0.008581	0.07868	T	-0.338172	0.05515	T	-0.723537	0.04626	T	0.0180244596414497	0.00526	T	0.860814	0.55431	D	0.067621015	0.14658	0.085668504	0.19797	0.067621015	0.14658	0.085668504	0.19796	-5.353	0.40464	T	.	.	0.142	0.31304	B	.	.	-0.316511	0.02545	0.307	0.95792710937999048	0.27836	0.00158	0.00946	N	AEFI	0.024026	0.01424	N	-0.703983466663494	0.15909	0.8059916	-0.940122615972782	0.11153	0.5664451	7.70814022812138E-6	0.01202	0.553676	0.25195	0	0.547309	0.14657	0	0.618467	0.43123	0	0.567892	0.33627	0	.	.	1.97	-0.0553	0.13141	-2.257000	0.01262	-20.000000	0.00162	0.323000	0.19410	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.5586:0.0:0.4413	3.892	0.08627	946	0.12043	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.042510	0.070707	0.051630	0.045181	0.050000	0.068966	0.021341	0.011364	0.07143	1561.44	161	chr12	11091839	.	C	T	1561.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.384;DP=798;ExcessHet=0;FS=2.028;MLEAC=1;MLEAF=0.071;MQ=58.06;MQRankSum=3.86;QD=9.7;ReadPosRankSum=-1.384;SOR=0.874	GT:AD:DP:GQ:PL	0/1:97,64:161:99:1572,0,2798	6	0	1	0
chr12	27494342	27494342	A	T	exonic	SMCO2	.	nonsynonymous SNV	SMCO2:NM_001145010:exon7:c.A643T:p.I215L	.	444	1072	6	0	0	6	0.0027907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.00193482516032	.	0.000399361	0.0001	0.0015	0	0	0	0	0	0	3.23e-05	5	154602	rs538439387	2.767e-05	2.941e-05	2.441e-05	3.103e-05	0.0004	2.057e-05	1.801e-05	6.246e-05	2.685e-05	0.0001	0.0001	0	0	0	0.0004	1.497e-05	0.0002	0	0.0001	0.0001	0.0002	0.0001	0.0004	9.741e-05	8.256e-05	0.0003	0.0002	0.0004	0	6.539e-05	0	0	0	0.0034	2.941e-05	0	0	0.079	0.34800	T	0.083	0.42794	T	0.005	0.12996	B	0.005	0.11217	B	0.925359	0.08458	N	0.957474	1	0.08975	N	1.1	0.28011	L	.	.	.	-1.65	0.39503	N	0.175	0.18784	-1.0148	0.25400	T	0.065	0.26878	T	9	0.011709541	0.00255	T	0.001935	0.03430	T	0.005	0.00259	0.311	0.28451	0.0138822411134	0.00435	0.04180621659198681	0.04125	.	.	0.396810412407	0.24625	T	0.042318	0.26143	T	-0.469531	0.00856	T	-0.548063	0.17511	T	0.0119151420784443	0.00186	T	0.20228	0.02343	T	0.07407378	0.16596	0.09968178	0.23809	0.07407378	0.16596	0.09968178	0.23808	-1.824	0.02582	T	.	.	0.093	0.15475	B	.;.;.	.;.;.	-0.163330	0.03284	0.563	0.87273624816521278	0.17110	0.05467	0.11348	N	AEFI	0.033113	0.03868	N	-1.11189350433185	0.06430	0.2959937	-1.1904431244193	0.06069	0.2910024	5.75424069977167E-4	0.07363	0.553676	0.25195	0	0.588066	0.40923	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	3.29	-1.84	0.07387	-0.497000	0.06509	-1.327000	0.05707	0.729000	0.85517	0.000000	0.06391	0.000000	0.08366	0.592000	0.31189	0.3893:0.0:0.6107:0.0	7.997	0.29432	793	0.45818	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002571	0.000000	0.000000	0.000000	0.000000	0.000000	0.006024	0.014706	0.07143	315.44	45	chr12	27494342	.	A	T	315.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.045;DP=208;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.01;ReadPosRankSum=-2.135;SOR=0.558	GT:AD:DP:GQ:PL	0/1:29,16:45:99:326,0,721	6	0	1	0
chr12	31091731	31091731	C	T	exonic	DDX11	.	nonsynonymous SNV	DDX11:NM_001257144:exon10:c.C1102T:p.P368S,DDX11:NM_001257145:exon10:c.C1024T:p.P342S,DDX11:NM_004399:exon10:c.C1102T:p.P368S,DDX11:NM_030653:exon10:c.C1102T:p.P368S,DDX11:NM_152438:exon10:c.C1102T:p.P368S	Warsaw breakage syndrome, Autosomal recessive	1	1276	245	0	0	245	0.0875939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.437	.	.	0.0223642	0.0002	0.0003	0.0002	0.0005	0.0003	0.0002	0	0	0.0008409	130	154602	rs201612562	0.0006	0.0035	0.0005	0.0007	0.0033	0.0005	0.0005	0.0028	0.0027	0.0002	0.0033	0.0005	0.0016	0.0013	0.0006	0.0004	0.0005	0.0007	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.013	0.57480	D	0.0	0.92824	D	1.0	0.90584	D	0.99	0.86255	D	0.000009	0.62929	D	0.114571	1	0.81001	D	.	.	.	1.14	0.38397	T	-7.74	0.95765	D	0.935	0.94668	-0.3380	0.73902	T	0.280	0.65170	T	10	0.0195221	0.00437	T	.	.	.	0.437	0.74164	.	.	0.584736501517	0.58146	0.856246594939591	0.85587	.	.	0.844346821308	0.88757	D	0.56607	0.85555	D	0.117933	0.66163	D	-0.0683742	0.65742	T	0.971576750278473	0.69369	D	0.946205	0.79675	D	0.8229996	0.85423	0.65729964	0.79931	0.8229996	0.85424	0.65729964	0.79931	-11.524	0.82967	D	.	.	0.597	0.70296	P	.;.;.;.	.;.;.;.	5.562741	0.92150	32	0.99906950704780995	0.97726	0.96748	0.70729	D	AEFBI	0.667814	0.63581	D	0.720063401293283	0.80945	7.408779	0.572471631206645	0.72975	5.895083	0.92097638106142	0.26654	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.683762	0.67416	0	.	.	3.05	3.05	0.34272	7.167000	0.77125	3.884000	0.40256	0.497000	0.22564	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:1.0:0.0:0.0	11.616	0.50348	976	0.04745	.;.;DEAD2|Helicase superfamily 1/2, ATP-binding domain, DinG/Rad3-type|Helicase-like, DEXD box c2 type;.	.	.	.	.	.	Likely benign	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	109.44	125	chr12	31091731	.	C	T	109.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.573;DP=463;ExcessHet=0;FS=1.666;MLEAC=1;MLEAF=0.071;MQ=48.13;MQRankSum=-4.028;QD=0.88;ReadPosRankSum=-1.766;SOR=0.481	GT:AD:DP:GQ:PL	0/1:105,20:125:99:120,0,2600	6	0	1	0
chr12	31662099	31662099	C	T	exonic	ETFBKMT	.	nonsynonymous SNV	ETFBKMT:NM_001135863:exon2:c.C146T:p.A49V,ETFBKMT:NM_001135864:exon2:c.C146T:p.A49V,ETFBKMT:NM_173802:exon2:c.C146T:p.A49V	.	430	1086	6	0	0	6	0.00275482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.139	0.0355347420345	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.91255	T	0.143	0.92824	T	0.706	0.42003	P	0.23	0.38212	B	0.003778	0.34511	N	0.314600	0.925267	0.36800	D	.	.	.	.	.	.	-1.82	0.74051	N	0.414	0.46835	-0.4529	0.70304	T	0.217	0.57863	T	9	0.22929928	0.39854	T	0.035535	0.56409	D	0.139	0.37390	0.343	0.33626	0.0884992946249	0.08302	0.26221385408481795	0.26134	0.0464259818516	0.05045	0.444821208715	0.31236	T	0.016857	0.13851	T	0.0261742	0.55212	T	-0.200179	0.54630	T	0.899968683719635	0.55238	D	0.760524	0.43505	T	0.11634218	0.27443	0.16310912	0.37854	0.11634218	0.27443	0.16310912	0.37853	-4.923	0.35993	T	.	.	0.091	0.22573	B	.;.;.;.;.;.	.;.;.;.;.;.	1.942690	0.24678	16.48	0.99718957691991894	0.81914	0.76303	0.37412	D	AEFDBI	0.129610	0.24786	N	0.158228642470679	0.49202	3.12326	0.144967502335954	0.46875	2.926537	0.999950853887353	0.48110	0.562547	0.31514	0	0.596877	0.49441	0	0.602189	0.34648	0	0.635551	0.53088	0	.	.	4.5	4.5	0.54382	1.450000	0.34745	0.466000	0.18665	0.581000	0.30040	0.794000	0.29644	0.054000	0.21897	0.232000	0.22788	0.0:1.0:0.0:0.0	15.553	0.75902	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	1454.44	128	chr12	31662099	.	C	T	1454.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.073;DP=321;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.36;ReadPosRankSum=1.15;SOR=0.701	GT:AD:DP:GQ:PL	0/1:68,60:128:99:1465,0,1658	6	0	1	0
chr12	39764776	39764776	G	C	exonic	SLC2A13	.	nonsynonymous SNV	SLC2A13:NM_052885:exon8:c.C1528G:p.L510V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.252	0.0443433292116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.747e-06	0.0002	4.1e-06	1.38e-06	3.612e-06	6.4e-07	4.3e-07	8.5e-07	5.7e-07	0	0	0	0	0	0	3.612e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	0.15201	T	0.462	0.12526	T	0.374	0.34192	B	0.326	0.41929	B	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-0.89	0.74793	T	-0.46	0.14978	N	0.564	0.58798	-0.6019	0.64739	T	0.322	0.69134	T	10	0.51726407	0.62438	D	0.044343	0.61442	D	0.252	0.56159	0.421	0.46365	0.695003275107	0.69237	0.8554796860303294	0.85510	0.415926434887	0.42235	0.617287814617	0.55346	T	0.14097	0.47579	T	0.161933	0.70380	D	-0.00517021	0.70000	D	0.952465236186981	0.63797	D	0.912409	0.68863	D	0.25600496	0.48637	0.19588253	0.43288	0.25600496	0.48637	0.19588253	0.43287	-8.267	0.62875	D	.	.	0.147	0.32493	B	.	.	3.372480	0.46612	22.3	0.9975783521054008	0.84772	0.94008	0.59836	D	AEFCI	0.740830	0.68496	D	0.145500679544335	0.48600	3.070197	0.293165215121814	0.55141	3.677321	0.998323112009773	0.36758	0.653281	0.48532	0	0.573888	0.26702	0	0.675528	0.61593	0	0.620846	0.47308	0	.	.	5.39	5.39	0.77615	4.252000	0.58574	11.595000	0.93433	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	19.172	0.93569	507	0.75469	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4167	398.42	26	chr12	39764776	.	G	C	398.42	.	AC=5;AF=0.417;AN=12;BaseQRankSum=0.419;DP=205;ExcessHet=6.1542;FS=279.101;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.33;ReadPosRankSum=0.832;SOR=8.439	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:11,15:26:71:.:.:99,0,71:.	1	0	5	1
chr12	40487424	40487424	-	CAGGTGTAGTGACAGGGACAACTGGCCC	exonic	MUC19	.	unknown	UNKNOWN	.	531	647	136	0	208	344	0.0951049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.211e-06	9.603e-06	2.25e-06	0	0.0010	0	0	.	.	0	0.0010	0	0	0	0	0	0	0	0.0003	0.0073	0.0003	0.0004	0.0005	0.0003	0.0002	0.0003	0.0002	0.0002	0	0.0005	0	0.0003	0.0005	0	0.0004	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	15468.5	661	chr12	40487424	.	T	TCAGGTGTAGTGACAGGGACAACTGGCCC	15468.5	.	AC=4;AF=0.333;AN=12;BaseQRankSum=0.817;DP=6041;ExcessHet=4.7409;FS=9.147;MLEAC=3;MLEAF=0.25;MQ=55.93;MQRankSum=-7.108;QD=5.66;ReadPosRankSum=7.39;SOR=3.526	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:659,2:661:99:.:.:3096,0,27242:.	2	0	4	1
chr12	40488212	40488217	GGGGTG	-	exonic	MUC19	.	unknown	UNKNOWN	.	573	874	75	0	0	75	0.041141	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1328022944	0	4.385e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0005	0.0045	0.0004	0.0005	0.0005	0.0004	0.0003	0.0003	0.0003	0.0005	0	0.0005	0.0013	0	0.0004	0	0.0004	0.0010	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	3487.68	340	chr12	40488211	.	TGGGGTG	T	3487.68	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-2.455;DP=4138;ExcessHet=1.1394;FS=5.453;MLEAC=3;MLEAF=0.214;MQ=57.73;MQRankSum=-15.92;QD=1.88;ReadPosRankSum=-4.326;SOR=1.408	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:307,33:340:99:0|1:40488211_TGGGGTG_T:343,0,12346:40488211	4	0	3	0
chr12	40488219	40488242	CAGAGACAACTGGACAATCAGCTG	-	exonic	MUC19	.	unknown	UNKNOWN	.	562	903	55	1	1	58	0.0305958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1486154631	0	3.663e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0004	0.0040	0.0004	0.0005	0.0005	0.0003	0.0003	0.0003	0.0003	0.0005	0	0.0004	0.0013	0	0.0005	0	0.0004	0.0010	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	3069.68	377	chr12	40488218	.	ACAGAGACAACTGGACAATCAGCTG	A	3069.68	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-2.03;DP=4157;ExcessHet=1.1394;FS=5.724;MLEAC=3;MLEAF=0.214;MQ=58.01;MQRankSum=-15.99;QD=1.54;ReadPosRankSum=-4.294;SOR=1.397	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:344,33:377:99:0|1:40488211_TGGGGTG_T:231,0,13860:40488211	4	0	3	0
chr12	40488222	40488222	A	0	exonic	MUC19	.	.	.	.	668	663	143	10	38	201	0.109469	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	4245.33	377	chr12	40488222	.	A	*	4245.33	.	AC=2;AF=0.167;AN=12;BaseQRankSum=3.17;DP=4021;ExcessHet=3.1439;FS=4.948;MLEAC=2;MLEAF=0.167;MQ=58.27;MQRankSum=-14.66;QD=1.43;ReadPosRankSum=-3.365;SOR=1.16	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:344,33:377:99:0|1:40488211_TGGGGTG_T:231,0,13860:40488211	4	0	2	1
chr12	40488224	40488224	A	0	exonic	MUC19	.	.	.	.	25	95	24	1	81	107	0.12037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	31631.5	377	chr12	40488224	.	A	*	31631.5	.	AC=2;AF=0.2;AN=10;BaseQRankSum=1.28;DP=4035;ExcessHet=1.383;FS=1.773;MLEAC=2;MLEAF=0.2;MQ=59.2;MQRankSum=15.9;QD=12.2;ReadPosRankSum=4.4;SOR=0.853	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:344,33:377:99:0|1:40488211_TGGGGTG_T:231,0,13860:40488211	3	0	2	2
chr12	40488225	40488225	C	0	exonic	MUC19	.	.	.	.	637	844	2	0	39	41	0.00118343	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	619.01	377	chr12	40488225	.	C	*	619.01	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.776;DP=3965;ExcessHet=1.1394;FS=6.239;MLEAC=2;MLEAF=0.143;MQ=55.75;MQRankSum=-14.7;QD=0.32;ReadPosRankSum=-6.958;SOR=1.287	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:344,33:377:99:0|1:40488211_TGGGGTG_T:231,0,13860:40488211	5	0	2	0
chr12	40488231	40488231	G	0	exonic	MUC19	.	.	.	.	640	765	79	12	26	129	0.0630741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	3467.54	377	chr12	40488231	.	G	*	3467.54	.	AC=2;AF=0.2;AN=10;BaseQRankSum=0.904;DP=3950;ExcessHet=1.383;FS=7.163;MLEAC=2;MLEAF=0.2;MQ=59.29;MQRankSum=-4.477;QD=1.34;ReadPosRankSum=-1.578;SOR=1.382	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:344,33:377:99:0|1:40488211_TGGGGTG_T:231,0,13860:40488211	3	0	2	2
chr12	40488234	40488234	A	0	exonic	MUC19	.	.	.	.	655	769	59	13	26	111	0.0523722	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	3274.33	377	chr12	40488234	.	A	*	3274.33	.	AC=2;AF=0.167;AN=12;BaseQRankSum=4.29;DP=3914;ExcessHet=3.1439;FS=5.194;MLEAC=2;MLEAF=0.167;MQ=58.36;MQRankSum=-14.63;QD=1.12;ReadPosRankSum=-7.88;SOR=1.225	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:344,33:377:99:0|1:40488211_TGGGGTG_T:231,0,13860:40488211	4	0	2	1
chr12	45891802	45891802	G	C	exonic	ARID2	.	nonsynonymous SNV	ARID2:NM_001347839:exon17:c.G4945C:p.V1649L,ARID2:NM_152641:exon17:c.G4945C:p.V1649L	.	433	1077	11	1	0	13	0.00599908	.	.	.	137311	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.222	0.0223764760044	0.0002	0.000998403	0.0013	9.621e-05	0.0010	0	0	0.0010	0.0022	0.0051	0.0011837	183	154602	rs201268655	0.0007	0.0007	0.0005	0.0009	0.0050	0.0006	0.0006	0.0046	0.0044	0.0002	0.0006	0.0007	0	1.872e-05	0.0047	0.0004	0.0008	0.0050	0.0005	0.0005	0.0003	0.0006	0.0048	0.0004	0.0004	0.0033	0.0028	0.0002	0	0.0005	0.0003	0	0	0	0.0005	0.0014	0.0048	0.1	0.32929	T	0.051	0.92824	T	0.217	0.32186	B	0.04	0.32387	B	0.000000	0.84330	D	0.000000	0.999998	0.81001	D	1.04	0.26193	L	1.0	0.41392	T	-0.97	0.51646	N	0.74	0.79792	-1.0698	0.09458	T	0.100	0.37085	T	10	0.012111098	0.00262	T	0.022376	0.45263	T	0.222	0.51872	.	.	0.718575572554	0.71610	0.48737062560680344	0.48657	0.184298380875	0.20729	0.83280390501	0.86992	D	0.039466	0.25199	T	-0.143323	0.29361	T	0.0217533	0.71743	D	0.0539407879114151	0.06179	T	0.889011	0.66112	D	0.31849742	0.54512	0.21973705	0.46724	0.28788137	0.51795	0.21093398	0.45500	-9.742	0.72353	D	.	.	0.926	0.84845	P	.;.;.;.	.;.;.;.	4.081993	0.60724	24.3	0.98938570650694557	0.48902	0.99415	0.95738	D	AEFBI	0.878903	0.80446	D	0.190215641634862	0.50729	3.260232	0.352645208474332	0.58667	4.038622	0.999999972376364	0.74766	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	5.17	5.17	0.70848	9.322000	0.95579	11.831000	0.97525	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:1.0:0.0	19.028	0.92921	843	0.36859	Zinc finger C2H2-type;Zinc finger C2H2-type;Zinc finger C2H2-type;Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.005539	0.000000	0.001359	0.008772	0.000000	0.000000	0.012195	0.011364	0.08333	685.27	43	chr12	45891802	.	G	C	685.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.239;DP=220;ExcessHet=0;FS=1.267;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.94;ReadPosRankSum=-1.033;SOR=0.985	GT:AD:DP:GQ:PL	0/1:21,22:43:99:695,0,610	5	0	1	1
chr12	50350897	50350897	C	G	exonic	FAM186A	.	nonsynonymous SNV	FAM186A:NM_001145475:exon4:c.G5935C:p.A1979P	.	429	1080	12	1	0	14	0.00643974	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	.	.	0.000399361	0.0049	0	0	0	0	0.0103	0.0319	0.0005	0.0007438	115	154602	rs183549613	0.0012	0.0011	0.0011	0.0012	0.0051	0.0011	0.0011	0.0036	0.0032	0.0001	0.0006	0.0321	0	6.091e-05	0.0051	0.0005	0.0028	0.0010	0.0011	0.0011	0.0011	0.0012	0.0008	0.0010	0.0010	0.0006	0.0006	0.0001	0	0.0005	0.0294	0	0	0	0.0008	0.0019	0.0006	0.157	0.23997	T	0.106	0.37872	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0	0.06538	N	2.89	0.10196	T	-1.0	0.26422	N	0.074	0.24010	-1.0114	0.26478	T	0.010	0.03627	T	9	0.003254652	0.00056	T	.	.	.	0.016	0.02506	.	.	0.0138822411134	0.00435	0.020118489836411953	0.01964	.	.	0.242013975978	0.02974	T	0.004474	0.03877	T	-0.632403	0.00092	T	-0.726731	0.04477	T	0.0323130377568132	0.02357	T	0.285271	0.05070	T	0.08004381	0.18318	0.07760044	0.17302	0.08004381	0.18318	0.07760044	0.17302	-1.609	0.02003	T	.	.	0.085	0.11366	B	.;.	.;.	-1.210715	0.00520	0.012	0.83558385996489282	0.14792	0.00089	0.00592	N	AEFDGBI	.	.	.	-2.28644752126192	0.00049	0.002095698	-2.37767160785682	0.00044	0.001942588	0.999999757822338	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.46	-8.93	0.00663	-2.372000	0.01152	-1.280000	0.05829	-1.899000	0.00526	0.000000	0.06391	0.000000	0.08366	0.545000	0.30055	0.3715:0.0781:0.0906:0.4598	3.402	0.06903	584	0.69381	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001433	0.000000	0.000000	0.009174	0.000000	0.000000	0.000000	0.000000	0.07143	799.53	86	chr12	50350897	.	C	G	799.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.136;DP=391;ExcessHet=0;FS=1.747;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.3;ReadPosRankSum=-0.109;SOR=0.827	GT:AD:DP:GQ:PL	0/1:49,37:86:99:810,0,1217	6	0	1	0
chr12	54363500	54363500	G	A	exonic	GPR84	.	nonsynonymous SNV	GPR84:NM_020370:exon2:c.C352T:p.R118C	.	424	1095	3	0	0	3	0.00136799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.828	0.244531666409	7.7e-05	0.000599042	9.095e-05	0.0003	0	0.0005	0	6.014e-05	0	0	9.7e-05	15	154602	rs145386200	5.678e-05	5.678e-05	5.31e-05	6.051e-05	0.0004	4.677e-05	4.302e-05	0.0003	0.0002	5.975e-05	2.236e-05	0	0.0004	5.623e-05	0.0003	4.587e-05	9.935e-05	1.159e-05	7.878e-05	7.873e-05	5.138e-05	0.0001	0.0010	4.493e-05	3.509e-05	0.0004	0.0002	4.812e-05	0	6.537e-05	0	0.0010	0	0	2.94e-05	0.0009	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.968	0.71741	D	0.000009	0.62929	D	0.000000	1	0.81001	D	3.525	0.93020	H	-4.28	0.97126	D	-7.69	0.95603	D	0.979	0.98929	1.073	0.98673	D	0.951	0.98399	D	10	0.8261237	0.81792	D	0.244532	0.88848	D	0.828	0.94541	.	.	0.989644784695	0.98952	0.9093460237639029	0.90908	0.775613616254	0.65014	0.551679432392	0.46095	T	0.241829	0.61044	T	0.274482	0.80837	D	0.512875	0.94919	D	0.596213567396819	0.36251	D	0.930207	0.74183	D	0.7730415	0.82230	0.66370493	0.80287	0.7730415	0.82232	0.66370493	0.80287	-9.048	0.68006	D	.	.	0.599	0.68830	P	.;.	.;.	5.146181	0.86174	28.8	0.99932883204816314	0.99488	0.95470	0.64849	D	AEFBHI	0.615949	0.60269	D	0.764955203133241	0.83874	8.133396	0.684269558598202	0.81182	7.46783	0.999999102549499	0.74766	0.497415	0.19182	0	0.541556	0.11502	0	0.59043	0.30614	0	0.530356	0.10902	0	.	.	5.21	4.27	0.50009	3.033000	0.49433	3.633000	0.39322	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.845:0.155	13.623	0.61615	686	0.59327	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	956.53	55	chr12	54363500	.	G	A	956.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.25;DP=258;ExcessHet=0;FS=1.046;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.39;ReadPosRankSum=0.394;SOR=0.869	GT:AD:DP:GQ:PL	0/1:20,35:55:99:967,0,442	6	0	1	0
chr12	54963039	54963039	T	C	exonic	TESPA1	.	nonsynonymous SNV	TESPA1:NM_001351150:exon6:c.A232G:p.I78V,TESPA1:NM_001351148:exon7:c.A445G:p.I149V,TESPA1:NM_001351151:exon7:c.A100G:p.I34V,TESPA1:NM_001351152:exon7:c.A100G:p.I34V,TESPA1:NM_001351153:exon7:c.A100G:p.I34V,TESPA1:NM_001351154:exon7:c.A100G:p.I34V,TESPA1:NM_001351155:exon7:c.A100G:p.I34V,TESPA1:NM_014796:exon7:c.A445G:p.I149V,TESPA1:NM_001261844:exon8:c.A445G:p.I149V,TESPA1:NM_001098815:exon9:c.A859G:p.I287V,TESPA1:NM_001136030:exon9:c.A859G:p.I287V,TESPA1:NM_001351149:exon10:c.A859G:p.I287V	.	432	1057	30	3	0	36	0.0167442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.00635071941167	0.0051	0.00259585	0.0049	0.0020	0.0065	0	0.0003	0.0068	0.0089	0.0022	0.0047671	737	154602	rs151024475	0.0050	0.0050	0.0049	0.0051	0.0229	0.0049	0.0048	0.0197	0.0185	0.0030	0.0059	0.0227	0	0.0002	0.0229	0.0050	0.0073	0.0021	0.0043	0.0043	0.0045	0.0040	0.0060	0.0040	0.0039	0.0050	0.0048	0.0018	0	0.0060	0.0256	0.0002	0.0002	0.0204	0.0054	0.0085	0.0010	0.049	0.39820	D	0.3	0.24477	T	0.537	0.37852	P	0.203	0.37000	B	0.000022	0.55875	D	0.069110	0.957218	0.38013	D	-0.805	0.01590	N	0.1	0.61326	T	-0.62	0.18248	N	0.139	0.23380	-0.9849	0.33856	T	0.078	0.31224	T	10	0.006645471	0.00151	T	0.006351	0.16696	T	0.099	0.28413	.	.	0.278143212241	0.27437	0.13621010059658048	0.13545	0.140071736936	0.15782	0.410828411579	0.26571	T	0.001749	0.01176	T	-0.556352	0.00267	T	-0.567933	0.15639	T	0.0178518659397938	0.00513	T	0.719228	0.39120	T	0.036203723	0.04409	0.05571088	0.09822	0.036203723	0.04408	0.05571088	0.09821	-3.494	0.18641	T	.	.	0.087	0.24363	B	.;.;.;.;.	.;.;.;.;.	1.175982	0.15662	12.01	0.99188203244763684	0.54906	0.46176	0.27702	N	AEFBI	0.142651	0.26514	N	0.0225348912315619	0.42879	2.592122	0.144746699284098	0.46863	2.925541	0.908225549450194	0.26279	0.706548	0.73137	0	0.724815	0.89359	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.49	4.2	0.48814	1.110000	0.30761	1.773000	0.28651	0.665000	0.62972	0.947000	0.32937	1.000000	0.68203	0.998000	0.85391	0.0:0.1449:0.0:0.8551	5.697	0.17132	783	0.47268	.;.;ITPR-interacting domain;ITPR-interacting domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.028197	0.030303	0.055707	0.011696	0.050000	0.034483	0.009146	0.003788	0.07143	327.53	34	chr12	54963039	.	T	C	327.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.619;DP=212;ExcessHet=0;FS=3.108;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.63;ReadPosRankSum=0.555;SOR=0.497	GT:AD:DP:GQ:PL	0/1:19,15:34:99:338,0,530	6	0	1	0
chr12	55935942	55935942	G	A	exonic	DGKA	.	nonsynonymous SNV	DGKA:NM_001351035:exon1:c.G17A:p.G6E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.199e-06	6.84e-07	0	2.595e-06	1.311e-06	0	0	.	.	0	0	0	0	0	0	1.311e-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	.	.	.	.	.	.	.	.	0.125	33.12	3	chr12	55935942	.	G	A	33.12	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-0.967;DP=14;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.125;MQ=60;MQRankSum=0;QD=11.04;ReadPosRankSum=-0.967;SOR=0.223	GT:AD:DP:GQ:PL	0/1:1,2:3:34:40,0,34	3	0	1	3
chr12	57751081	57751081	G	A	exonic	CDK4	.	nonsynonymous SNV	CDK4:NM_000075:exon4:c.C364T:p.R122C	.	.	.	.	.	.	.	.	.	.	.	137613	Familial_melanoma|not_provided|not_specified|Melanoma,_cutaneous_malignant,_susceptibility_to,_3|Hereditary_cancer-predisposing_syndrome	MONDO:MONDO:0018961,MedGen:C1512419,Orphanet:618|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0012183,MedGen:C1836892,OMIM:609048,Orphanet:618|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.210	0.00959958098929	.	.	2.471e-05	0	8.637e-05	0	0	1.498e-05	0	6.056e-05	1.94e-05	3	154602	rs587778185	9.577e-06	9.577e-06	9.529e-06	9.625e-06	4.637e-05	5.56e-06	4.35e-06	1.583e-05	9.3e-06	0	2.236e-05	0	0	0	0	8.093e-06	0	4.637e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.39097	T	0.123	0.37173	T	0.995	0.67487	D	0.708	0.54437	P	0.008063	0.31035	N	0.299629	1	0.81001	D	1.27	0.32069	L	0.85	0.47130	T	-4.52	0.78302	D	0.195	0.21449	-0.9638	0.38448	T	0.133	0.44484	T	10	0.37228715	0.53567	T	0.010	0.25107	T	0.210	0.50028	0.513	0.61153	0.730243032302	0.72784	0.6726061321920708	0.67198	0.868071758153	0.69291	0.430020272732	0.29211	T	0.532776	0.83861	D	-0.220582	0.17912	T	-0.373099	0.36526	T	0.654237449169159	0.38645	D	0.29727	0.44919	T	0.3747842	0.58936	0.392544	0.63997	0.3747842	0.58936	0.392544	0.63997	-5.676	0.43479	T	.	.	0.147	0.41449	B	.;.;.;.;.;.	.;.;.;.;.;.	4.238708	0.64244	24.7	0.99843525702029123	0.92403	0.43091	0.27022	N	AEFDGBHCI	0.415635	0.48441	N	0.0501565170874673	0.44150	2.694322	-0.0371729555417621	0.38051	2.236328	0.999999975246217	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.685571	0.62057	0	0.657601	0.63696	0	.	.	4.76	1.31	0.20837	0.439000	0.21293	4.736000	0.44580	0.676000	0.76740	0.148000	0.23625	1.000000	0.68203	0.994000	0.71098	0.2204:0.0:0.54:0.2396	4.579	0.11642	174	0.93268	Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1123.44	111	chr12	57751081	.	G	A	1123.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.775;DP=315;ExcessHet=0;FS=1.518;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.12;ReadPosRankSum=1.44;SOR=0.856	GT:AD:DP:GQ:PL	0/1:61,50:111:99:1134,0,1497	6	0	1	0
chr12	68251515	68251515	T	C	exonic	IL22	.	nonsynonymous SNV	IL22:NM_020525:exon5:c.A460G:p.K154E	.	426	1095	1	0	0	1	0.000456413	0.0002	0.006	.	2366418	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.038	0.00562882400348	0.0007	0.000399361	0.0003	0.0011	0.0007	0	0	0.0002	0.0011	0	0.0002264	35	154602	rs138190698	0.0002	0.0003	0.0002	0.0003	0.0010	0.0002	0.0002	0.0005	0.0004	0.0006	0.0005	3.832e-05	0	0	0.0010	0.0003	0.0002	1.162e-05	0.0003	0.0003	0.0003	0.0003	0.0007	0.0003	0.0002	0.0005	0.0004	0.0007	0	0.0003	0	0	0	0.0102	0.0002	0.0009	0	0.135	0.26192	T	0.64	0.06970	T	0.002	0.09854	B	0.003	0.08700	B	0.280739	0.14950	N	0.669254	0.999242	0.21461	N	1.76	0.45711	L	0.95	0.43279	T	-2.57	0.55501	D	0.162	0.17002	-1.0334	0.19363	T	0.076	0.30522	T	9	0.031203657	0.01253	T	0.005629	0.14560	T	0.038	0.09825	.	.	0.431150418975	0.42736	0.2736831014506876	0.27281	0.14134607187	0.15935	0.394318521023	0.24277	T	0.193558	0.54907	T	-0.581197	0.00189	T	-0.658066	0.08398	T	0.0115075070440396	0.00173	T	0.561944	0.19701	T	0.39545178	0.60417	0.24188995	0.49597	0.39545178	0.60417	0.24188995	0.49595	-3.508	0.16543	T	.	.	0.086	0.11606	B	.;.	.;.	1.287238	0.16875	12.82	0.59984639971393239	0.06354	0.28721	0.23631	N	AEFGBI	0.073319	0.14661	N	-0.85320495215957	0.11971	0.5807764	-0.874770865995437	0.12693	0.6544281	0.0549783412051737	0.14997	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.6	-0.522	0.11332	-0.074000	0.11410	-1.186000	0.06083	-0.157000	0.11712	0.981000	0.35396	0.000000	0.08366	0.059000	0.15899	0.0:0.184:0.3399:0.4762	4.298	0.10352	945	0.12563	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003525	0.010101	0.005435	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	1067.44	100	chr12	68251515	.	T	C	1067.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.599;DP=291;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.67;ReadPosRankSum=-0.746;SOR=0.643	GT:AD:DP:GQ:PL	0/1:53,47:100:99:1078,0,1295	6	0	1	0
chr12	68746582	68746582	C	G	exonic	SLC35E3	.	nonsynonymous SNV	SLC35E3:NM_001354997:exon1:c.C205G:p.P69A,SLC35E3:NM_001354998:exon1:c.C205G:p.P69A,SLC35E3:NM_018656:exon1:c.C205G:p.P69A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.266	0.0501615545114	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.41	0.10148	T	0.446	0.13103	T	0.415	0.35204	B	0.205	0.37080	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.075	0.57047	M	0.33	0.58323	T	-2.52	0.54702	D	0.784	0.78072	-0.8009	0.55092	T	0.205	0.56307	T	9	0.64637333	0.69350	D	0.050162	0.64125	D	0.266	0.57999	0.481	0.56142	0.766150250677	0.76401	0.5573545958472674	0.55662	0.20160109141	0.22562	0.590440094471	0.51556	T	0.175162	0.52465	T	0.0289394	0.55582	T	-0.196207	0.55006	T	0.836121261119843	0.49013	D	0.913609	0.69252	D	0.26206782	0.49267	0.46167323	0.68740	0.26206782	0.49267	0.46167323	0.68741	-7.426	0.57088	T	.	.	0.135	0.29255	B	.	.	3.020080	0.40419	21.2	0.80360396454377581	0.13167	0.98772	0.86654	D	AEFDGBHCI	0.813618	0.73604	D	0.162134920849173	0.49387	3.139752	0.216939521753028	0.50785	3.26714	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.98	4.98	0.65679	7.354000	0.78680	7.538000	0.60033	0.333000	0.19617	1.000000	0.71638	1.000000	0.68203	0.774000	0.36673	0.0:1.0:0.0:0.0	18.635	0.91330	883	0.28872	Sugar phosphate transporter domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	806.53	96	chr12	68746582	.	C	G	806.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.31;DP=279;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.4;ReadPosRankSum=-0.369;SOR=0.715	GT:AD:DP:GQ:PL	0/1:59,37:96:99:817,0,1461	6	0	1	0
chr12	69755649	69755649	T	C	exonic	RAB3IP	.	nonsynonymous SNV	RAB3IP:NM_022456:exon2:c.T241C:p.S81P,RAB3IP:NM_175623:exon2:c.T289C:p.S97P,RAB3IP:NM_175624:exon2:c.T241C:p.S81P,RAB3IP:NM_175625:exon2:c.T289C:p.S97P	.	0	225	1	0	0	1	0.00221729	.	.	.	2365571	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.058	0.0129295976648	0.0002	.	0.0001	9.701e-05	0	0	0	0.0002	0	6.109e-05	9.7e-05	15	154602	rs141936642	7.743e-05	7.73e-05	7.36e-05	8.129e-05	0.0002	6.543e-05	6.146e-05	1.585e-05	9.31e-06	0	0	0.0029	0	0	0.0002	1.712e-05	0.0002	4.648e-05	9.198e-05	9.193e-05	0.0001	6.724e-05	0.0001	5.527e-05	4.364e-05	4.738e-05	3.052e-05	0.0001	0	0	0.0017	0	0	0	4.41e-05	0	0	0.12	0.31987	T	0.068	0.49942	T	0.001	0.07471	B	0.001	0.08700	B	0.094636	0.20163	N	0.524360	0.999951	0.52396	D	1.39	0.34934	L	0.74	0.50721	T	0.56	0.32185	N	0.15	0.22742	-1.0996	0.04140	T	0.068	0.27743	T	10	0.013831854	0.00292	T	0.01293	0.31926	T	0.058	0.16647	.	.	0.476364732183	0.47263	0.23849091991694524	0.23763	0.126400502665	0.14248	0.393505573273	0.24162	T	0.012619	0.33446	T	-0.225467	0.17253	T	-0.380116	0.35707	T	0.0166178295221942	0.00421	T	0.657134	0.26688	T	0.05155677	0.09486	0.076680526	0.17008	0.05155677	0.09486	0.076680526	0.17008	-3.19	0.12358	T	.	.	0.056	0.00949	B	.;.;.;.;.;.	.;.;.;.;.;.	0.683278	0.10520	7.231	0.98047114417067338	0.37835	0.27153	0.23197	N	AEFDBI	0.112434	0.22222	N	-0.765251693542238	0.14222	0.7067254	-0.706477335343063	0.16799	0.8903936	0.0208257388425652	0.13294	0.732398	0.92422	0	0.653731	0.59785	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.93	0.417	0.15639	0.140000	0.15877	-0.772000	0.07491	0.665000	0.62972	0.373000	0.25949	0.008000	0.19753	0.231000	0.22761	0.1113:0.0634:0.4595:0.3658	5.597	0.16615	614	0.66605	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1179.45	79	chr12	69755649	.	T	C	1179.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.64;DP=255;ExcessHet=0;FS=0.926;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.93;ReadPosRankSum=-2.059;SOR=0.929	GT:AD:DP:GQ:PL	0/1:35,44:79:99:1190,0,859	6	0	1	0
chr12	79449113	79449113	G	A	exonic	SYT1	.	nonsynonymous SNV	SYT1:NM_001135806:exon10:c.G1258A:p.V420I,SYT1:NM_001291901:exon10:c.G1249A:p.V417I,SYT1:NM_005639:exon11:c.G1258A:p.V420I,SYT1:NM_001135805:exon12:c.G1258A:p.V420I	.	435	1078	9	0	0	9	0.00415704	.	.	.	2816726	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.034	0.0089244443933	0.0012	.	0.0032	0.0005	0.0022	0	0.0002	0.0045	0	0.0031	0.0022509	348	154602	rs61756211	0.0029	0.0029	0.0029	0.0029	0.0036	0.0028	0.0028	0.0030	0.0030	0.0004	0.0017	0.0080	2.529e-05	0.0004	0.0036	0.0031	0.0027	0.0027	0.0019	0.0019	0.0020	0.0018	0.0033	0.0017	0.0017	0.0023	0.0022	0.0003	0	0.0028	0.0086	0	0.0005	0.0068	0.0026	0.0005	0.0033	0.486	0.08091	T	0.52	0.11864	T	0.001	0.07471	B	0.001	0.04355	B	0.023158	0.26497	N	0.406771	0.870077	0.31549	N	0	0.06538	N	0.29	0.59037	T	-0.11	0.08653	N	0.088	0.07811	-1.0436	0.16236	T	0.082	0.32353	T	10	0.0042853355	0.00086	T	0.008924	0.23511	T	0.034	0.08419	.	.	0.229543500084	0.22568	0.4045132169293496	0.40367	1.13317876906	0.78688	0.301473617554	0.10620	T	0.374968	0.73866	T	-0.517315	0.00456	T	-0.5186	0.20436	T	0.000321241870974318	0.00003	T	0.60264	0.22576	T	0.06538623	0.13967	0.06013083	0.11402	0.060316067	0.12362	0.056054596	0.09946	-3.635	0.18364	T	.	.	0.067	0.02829	B	.;.;.;.	.;.;.;.	2.059928	0.26190	17.03	0.85696259719363199	0.16055	0.69285	0.34127	D	AEFDGHCI	0.127149	0.24439	N	-0.618347675941327	0.18394	0.9545726	-0.417953651527767	0.24470	1.340159	0.997690290464492	0.35915	0.706298	0.61202	0	0.573888	0.26702	0	0.779548	0.98927	0	0.613276	0.41899	0	.	.	6.01	3.2	0.35826	1.202000	0.31878	4.066000	0.41626	-0.685000	0.04181	0.820000	0.29989	1.000000	0.68203	0.972000	0.54974	0.1925:0.0:0.6899:0.1176	7.411	0.26189	912	0.21483	.;.;.;.	.	.	.	.	.	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	0.005051	0.004076	0.000000	0.000000	0.000000	0.006098	0.011364	0.07143	605.46	73	chr12	79449113	.	G	A	605.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.287;DP=257;ExcessHet=0;FS=1.99;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.29;ReadPosRankSum=1.45;SOR=0.471	GT:AD:DP:GQ:PL	0/1:45,28:73:99:616,0,1127	6	0	1	0
chr12	100059301	100059301	C	T	exonic	UHRF1BP1L	.	nonsynonymous SNV	UHRF1BP1L:NM_015054:exon14:c.G1976A:p.R659K	.	433	1083	6	0	0	6	0.00276243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.00986710379366	0.0002	0.000599042	0.0006	0	0.0003	0	0	0.0005	0	0.0025	0.0005821	90	154602	rs200286047	0.0004	0.0004	0.0004	0.0005	0.0033	0.0004	0.0004	0.0022	0.0018	2.987e-05	0.0003	0.0011	0	0	0.0033	0.0003	0.0004	0.0020	0.0004	0.0004	0.0003	0.0005	0.0023	0.0003	0.0003	0.0013	0.0010	0.0001	0	0.0007	0	0	0	0	0.0005	0	0.0023	0.106	0.42487	T	0.369	0.41405	T	0.573	0.38659	P	0.161	0.34794	B	0.000000	0.84330	D	0.048884	0.999963	0.52935	D	1.655	0.42436	L	2.96	0.09728	T	-0.72	0.24244	N	0.649	0.68429	-1.1365	0.01495	T	0.037	0.15813	T	10	0.02142778	0.00512	T	0.009867	0.25720	T	0.115	0.32236	.	.	0.245697971988	0.24196	0.4699985069444435	0.46918	0.495410716143	0.48077	0.702900826931	0.67563	T	0.002712	0.14499	T	-0.311404	0.07625	T	-0.225634	0.52193	T	0.0300771161019923	0.02001	T	0.957804	0.86020	D	0.28262812	0.51298	0.27757528	0.53711	0.28262812	0.51298	0.27757528	0.53710	-2.702	0.07320	T	.	.	0.207	0.43311	B	.;.	.;.	3.791865	0.54583	23.5	0.99386554489727852	0.62113	0.96517	0.69535	D	AEFBI	0.711031	0.66460	D	0.349951744878321	0.58738	4.047871	0.449872392517167	0.64708	4.732342	0.999999999346557	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.547309	0.15389	0	0.563494	0.21769	0	.	.	5.56	5.56	0.83678	4.826000	0.62405	6.015000	0.52706	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	19.526	0.95196	818	0.41518	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.005051	0.006793	0.000000	0.000000	0.000000	0.009146	0.000000	0.07143	973.53	58	chr12	100059301	.	C	T	973.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.93;DP=239;ExcessHet=0;FS=3.707;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.79;ReadPosRankSum=0.596;SOR=0.444	GT:AD:DP:GQ:PL	0/1:23,35:58:99:984,0,625	6	0	1	0
chr12	107741033	107741033	T	C	exonic	PRDM4	.	nonsynonymous SNV	PRDM4:NM_012406:exon10:c.A1837G:p.M613V	.	424	1096	2	0	0	2	0.000911577	.	.	.	2761254	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.094	0.0056716211778	7.7e-05	.	2.471e-05	0	0	0	0	4.495e-05	0	0	3.23e-05	5	154602	rs138588917	4.104e-05	4.104e-05	4.084e-05	4.125e-05	4.856e-05	3.244e-05	2.919e-05	3.804e-05	3.407e-05	2.987e-05	2.236e-05	0	0	0	0	4.856e-05	4.967e-05	1.159e-05	1.314e-05	1.313e-05	1.285e-05	1.345e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.053	0.38863	T	0.323	0.18959	T	0.012	0.16265	B	0.002	0.06944	B	0.000000	0.84330	D	0.115537	0.999579	0.47641	D	0.33	0.10399	N	1.69	0.27032	T	-0.14	0.09135	N	0.149	0.15187	-1.0606	0.11607	T	0.033	0.14203	T	10	0.083269775	0.13833	T	0.005672	0.14681	T	0.094	0.27141	.	.	0.110392049598	0.10638	0.4562366990742257	0.45541	0.605572307548	0.55437	0.735593259335	0.72324	T	0.029343	0.21048	T	-0.29069	0.09567	T	-0.498967	0.22455	T	0.102208433760941	0.12599	T	0.854615	0.54143	D	0.23892522	0.46777	0.20796868	0.45079	0.23892522	0.46777	0.20796868	0.45078	-5.363	0.40562	T	.	.	0.188	0.40586	B	.	.	2.841523	0.37494	20.5	0.95803241782393933	0.27862	0.95524	0.65064	D	AEFBI	0.426191	0.49065	N	-0.10621612776745	0.37122	2.155205	0.167456499126228	0.48075	3.028376	0.995408735466588	0.34108	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.03	6.03	0.97798	5.745000	0.68308	7.947000	0.75742	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.558	0.84362	872	0.31118	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	0.001008	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.07143	1468.44	101	chr12	107741033	.	T	C	1468.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.128;DP=278;ExcessHet=0;FS=1.658;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.54;ReadPosRankSum=-1.197;SOR=0.86	GT:AD:DP:GQ:PL	0/1:39,62:101:99:1479,0,806	6	0	1	0
chr12	110531589	110531589	A	T	exonic	RAD9B	.	nonsynonymous SNV	RAD9B:NM_001286536:exon9:c.A934T:p.N312Y,RAD9B:NM_001368056:exon10:c.A550T:p.N184Y,RAD9B:NM_001368052:exon11:c.A1141T:p.N381Y,RAD9B:NM_001368053:exon11:c.A925T:p.N309Y,RAD9B:NM_152442:exon12:c.A1250T:p.E417V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.00417218592625	9.7e-05	.	4.395e-05	0	0	0	0	7.969e-05	0	0	3.23e-05	5	154602	rs377565239	4.195e-05	4.378e-05	4.383e-05	4.005e-05	0.0002	3.328e-05	3.017e-05	3.911e-05	3.509e-05	0	0	7.668e-05	0	0	0.0002	4.973e-05	4.989e-05	0	1.972e-05	1.97e-05	2.571e-05	1.345e-05	1.47e-05	5.24e-06	2.45e-06	.	.	0	0	0	0	0	0	0.0063	1.47e-05	0	0	0.044	0.41096	D	0.596	0.08052	T	0.062	0.23277	B	0.017	0.18140	B	.	.	.	.	0.999922	0.19486	N	.	.	.	2.1	0.19990	T	-0.29	0.11728	N	0.219	0.24510	-0.9746	0.36213	T	0.016	0.06711	T	9	0.05084145	0.04876	T	0.004172	0.10026	T	0.021	0.04004	.	.	0.184867976434	0.18130	.	.	.	.	.	.	.	0.009992	0.09054	T	-0.327557	0.06298	T	-0.577839	0.14739	T	0.115477738765188	0.13983	T	0.385961	0.09480	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.22717	B	.	.	-0.730912	0.01250	0.064	0.96606779532231002	0.30427	0.14099	0.18222	N	AEFDGBCI	0.046927	0.07847	N	-1.2450473402502	0.04365	0.1968688	-1.2223773673988	0.05552	0.2648583	0.999997233039846	0.74766	0.393558	0.05922	0	0.518115	0.08659	0	0.514364	0.09456	0	0.727631	0.95156	0	.	.	4.81	-0.984	0.09735	0.102000	0.15108	0.596000	0.19873	0.691000	0.84096	0.002000	0.15269	0.001000	0.17328	0.517000	0.29406	0.3546:0.3652:0.1145:0.1657	1.441	0.02212	227	0.91186	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	794.49	62	chr12	110531589	.	A	T	794.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.067;DP=237;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=-0.899;SOR=0.627	GT:AD:DP:GQ:PL	0/1:28,34:62:99:805,0,666	6	0	1	0
chr12	120214922	120214922	C	T	exonic	PXN	.	nonsynonymous SNV	PXN:NM_001243756:exon8:c.G1223A:p.R408Q,PXN:NM_002859:exon8:c.G1079A:p.R360Q,PXN:NM_025157:exon8:c.G680A:p.R227Q,PXN:NM_001080855:exon9:c.G1181A:p.R394Q	.	418	1070	34	0	0	34	0.0156394	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.0797572520239	0.0016	0.000599042	0.0023	0.0003	0.0004	0	0.0032	0.0034	0	0.0009	0.0021216	328	154602	rs111674215	0.0019	0.0019	0.0020	0.0019	0.0224	0.0019	0.0019	0.0192	0.0180	0.0005	0.0012	0.0054	0.0002	0.0029	0.0224	0.0019	0.0030	0.0009	0.0016	0.0016	0.0013	0.0018	0.0020	0.0014	0.0013	0.0017	0.0016	0.0003	0	0.0012	0.0037	0.0004	0.0042	0.0068	0.0020	0.0019	0.0015	0.133	0.27544	T	0.271	0.23984	T	0.585	0.40359	P	0.105	0.31615	B	.	.	.	.	1	0.81001	D	-0.235	0.03917	N	-2.25	0.87272	D	-2.41	0.52938	N	0.525	0.61341	-0.4091	0.71739	T	0.326	0.69418	T	9	0.010912269	0.00241	T	0.079757	0.73308	D	0.399	0.71321	.	.	0.893840687942	0.89279	0.4575059753207088	0.45668	0.771881204982	0.64809	0.732327580452	0.71847	T	0.707445	0.91628	D	-0.245447	0.14661	T	-0.129335	0.61029	T	0.02653105194599	0.01479	T	0.858514	0.84742	D	0.26880148	0.49952	0.23454912	0.48674	0.26880148	0.49952	0.23454912	0.48673	-12.086	0.85897	D	.	.	0.335	0.55590	B	.;.;.;.;.;.	.;.;.;.;.;.	5.348436	0.89727	31	0.99892984177864352	0.96666	0.90481	0.51693	D	AEFDBCI	0.718958	0.66999	D	-0.043095108725219	0.39911	2.361425	0.164567877012949	0.47919	3.015019	0.999999999982393	0.74766	0.67177	0.52595	0	0.643519	0.57511	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.18	5.18	0.71140	6.085000	0.70992	7.640000	0.63152	0.577000	0.29297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.685	0.91521	437	0.80299	.;.;Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type;.;Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type;Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.023162	0.015152	0.024457	0.038012	0.000000	0.017241	0.021341	0.018939	0.07143	927.44	76	chr12	120214922	.	C	T	927.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.39;DP=254;ExcessHet=0;FS=0.869;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.2;ReadPosRankSum=0.296;SOR=0.617	GT:AD:DP:GQ:PL	0/1:39,37:76:99:938,0,927	6	0	1	0
chr12	121011115	121011115	T	A	exonic	C12orf43	.	nonsynonymous SNV	C12orf43:NM_001286191:exon2:c.A177T:p.Q59H,C12orf43:NM_001286192:exon2:c.A177T:p.Q59H,C12orf43:NM_001286195:exon2:c.A177T:p.Q59H,C12orf43:NM_001286196:exon2:c.A177T:p.Q59H,C12orf43:NM_001286197:exon2:c.A177T:p.Q59H,C12orf43:NM_022895:exon2:c.A177T:p.Q59H,C12orf43:NM_001286198:exon3:c.A51T:p.Q17H	.	437	1071	14	0	0	14	0.00649351	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.0150175476265	0.0032	0.000798722	0.0038	0.0012	0.0041	0	0.0018	0.0054	0.0044	0.0016	0.0036998	572	154602	rs112728225	0.0044	0.0044	0.0044	0.0044	0.0073	0.0043	0.0043	0.0055	0.0051	0.0009	0.0059	0.0186	2.519e-05	0.0019	0.0073	0.0045	0.0062	0.0011	0.0041	0.0041	0.0042	0.0041	0.0087	0.0039	0.0038	0.0075	0.0071	0.0011	0	0.0087	0.0222	0	0.0024	0.0034	0.0048	0.0066	0.0015	0.078	0.34982	T	0.109	0.46406	T	0.051	0.22415	B	0.023	0.19966	B	0.196636	0.16707	N	0.624203	1	0.08975	N	.	.	.	0.8	0.49068	T	-2.43	0.55181	N	0.232	0.33469	-0.8908	0.48864	T	0.117	0.41320	T	10	0.004691571	0.00099	T	0.015018	0.35506	T	0.130	0.35528	.	.	0.225902525712	0.22197	0.1964779174714574	0.19564	0.74176315843	0.63301	.	.	.	0.089503	0.38385	T	-0.502812	0.00551	T	-0.492281	0.23152	T	0.0108098246428127	0.00153	T	0.647535	0.25853	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.177	0.46447	B	.;.;.;.;.;.	.;.;.;.;.;.	0.932503	0.13078	9.581	0.58142698737610365	0.05926	0.03873	0.09239	N	AEFBI	0.078282	0.15791	N	-1.0395364445583	0.07794	0.3632934	-1.24160540764897	0.05257	0.2500275	0.32892325456824	0.19465	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.59	-6.29	0.01838	-0.805000	0.04636	-3.641000	0.02637	-1.707000	0.00749	0.009000	0.18154	0.000000	0.08366	0.025000	0.12405	0.1128:0.1831:0.1116:0.5925	4.208	0.09954	376	0.83959	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.011581	0.020202	0.013587	0.002924	0.050000	0.017241	0.006098	0.007576	0.07143	1002.53	57	chr12	121011115	.	T	A	1002.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1;DP=241;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.59;ReadPosRankSum=3.46;SOR=0.801	GT:AD:DP:GQ:PL	0/1:20,37:57:99:1013,0,408	6	0	1	0
chr12	131851123	131851123	C	T	exonic	MMP17	.	nonsynonymous SNV	MMP17:NM_016155:exon10:c.C1661T:p.S554L	.	.	.	.	.	.	.	.	.	.	.	2207497	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.075	0.0272953610451	.	.	0.0001	0	0	0	0	8.665e-05	0	0.0007	7.12e-05	11	154602	rs755261675	5.504e-05	5.609e-05	3.597e-05	7.44e-05	0.0004	4.492e-05	4.158e-05	0.0003	0.0003	0	0	0	0	0	0.0002	3.637e-05	3.376e-05	0.0004	1.314e-05	1.313e-05	2.569e-05	0	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.1	0.61437	T	0.161	0.61642	T	0.491	0.36960	P	0.036	0.22909	B	0.033767	0.01776	N	2.893580	0.757454	0.35026	D	1.845	0.48678	L	2.28	0.17271	T	-1.46	0.38540	N	0.167	0.23125	-1.0201	0.23682	T	0.026	0.11264	T	10	0.07742441	0.12217	T	0.027295	0.50125	D	0.075	0.21907	0.213	0.13210	0.395441342475	0.39163	0.4451381404140394	0.44431	0.257231272302	0.28296	0.59388589859	0.52042	T	0.19371	0.54926	T	-0.374849	0.03356	T	-0.468805	0.25646	T	0.134155750274658	0.15760	T	0.824718	0.48674	T	0.09654902	0.22744	0.09523757	0.22578	0.09654902	0.22744	0.09523757	0.22577	-3.047	0.14537	T	.	.	0.104	0.32469	B	.;.;.	.;.;.	3.358363	0.46356	22.3	0.99634743818733473	0.76264	0.61493	0.31500	D	AEFBCI	0.625784	0.60885	D	-0.514481250124486	0.21611	1.148175	-0.454483028560008	0.23422	1.277209	0.99999999822426	0.74766	0.706298	0.61202	0	0.547309	0.14657	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	4.98	4.09	0.47038	4.616000	0.60900	3.030000	0.36038	0.531000	0.24825	0.747000	0.29101	0.057000	0.21958	0.643000	0.32503	0.0:0.9221:0.0:0.0779	13.133	0.58809	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	.	.	.	.	.	.	.	.	0.07143	918.49	72	chr12	131851123	.	C	T	918.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.367;DP=252;ExcessHet=0;FS=1.964;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.76;ReadPosRankSum=2;SOR=0.926	GT:AD:DP:GQ:PL	0/1:33,39:72:99:929,0,695	6	0	1	0
chr12	132011564	132011564	A	C	exonic	EP400	.	nonsynonymous SNV	EP400:NM_015409:exon16:c.A3371C:p.K1124T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.898	0.582408831535	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999946	0.58761	D	.	.	.	-3.18	0.93111	D	-5.26	0.84105	D	0.643	0.65501	1.009	0.97347	D	0.896	0.96558	D	10	0.8604413	0.85260	D	0.582409	0.96262	D	0.898	0.97135	.	.	0.760380764633	0.75819	0.897918227211768	0.89762	0.536651038253	0.50994	0.756912350655	0.75470	T	.	.	.	0.285466	0.81779	D	0.172275	0.81544	D	0.996360838413239	0.89195	D	0.958304	0.84304	D	.	.	.	.	.	.	.	.	-12.716	0.88159	D	.	.	0.867	0.80717	P	.;.	.;.	3.804409	0.54833	23.5	0.98389096989607039	0.40936	0.99315	0.94380	D	AEFBI	0.847028	0.76389	D	0.865758159505899	0.89987	10.20322	0.811629169526085	0.90592	10.477	0.999998210858832	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.18	5.18	0.71140	9.176000	0.93972	9.282000	0.79722	0.677000	0.82338	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.039	0.71434	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	309.27	26	chr12	132011564	.	A	C	309.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.03;DP=193;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=-1.21;SOR=0.693	GT:AD:DP:GQ:PL	0/1:12,14:26:99:319,0,304	5	0	1	1
chr12	133121791	133121791	A	G	exonic	ZNF891	.	nonsynonymous SNV	ZNF891:NM_001277291:exon2:c.T128C:p.M43T	.	431	1057	33	1	0	35	0.0162866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	.	.	0.00399361	0.0171	0.0040	0.0051	0	0.0284	0.0135	0.0052	0.0193	0.0028395	439	154602	rs11147241	0.0071	0.0068	0.0068	0.0075	0.0159	0.0070	0.0069	0.0152	0.0149	0.0009	0.0037	0.0231	5.597e-05	0.0236	0.0132	0.0060	0.0074	0.0159	0.0067	0.0067	0.0057	0.0078	0.0141	0.0064	0.0062	0.0114	0.0104	0.0006	0	0.0048	0.0213	0.0002	0.0253	0.0136	0.0073	0.0066	0.0141	0.003	0.68238	D	0.008	0.67890	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1.735	0.44892	L	4.67	0.01735	T	-1.27	0.31981	N	0.303	0.34228	-1.0652	0.10502	T	0.010	0.03537	T	5	0.0045554936	0.00094	T	.	.	.	0.108	0.30607	.	.	0.043077524339	0.03247	0.10339948176292266	0.10269	0.0205511460022	0.02023	0.261319935322	0.05049	T	0.006881	0.06306	T	-0.5581	0.00261	T	-0.560823	0.16299	T	0.0170166397133512	0.00450	T	0.910809	0.68393	D	0.52541	0.68569	0.42895132	0.66593	0.52541	0.68570	0.42895132	0.66593	-5.486	0.41737	T	.	.	0.617	0.69559	P	.	.	2.194521	0.27984	17.65	0.97262635867247871	0.33098	0.16088	0.19225	N	AEFBI	0.066787	0.13095	N	-0.126146370739987	0.36257	2.093278	-0.190241992970159	0.31895	1.809316	0.0900386912113356	0.16099	0.562547	0.31514	0	0.588066	0.40923	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	4.05	4.05	0.46415	1.244000	0.32381	4.555000	0.43818	0.756000	0.94297	0.001000	0.13787	0.198000	0.23548	0.868000	0.41282	1.0:0.0:0.0:0.0	11.028	0.46973	856	0.34373	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	.	.	.	.	.	.	.	.	0.07143	823.44	85	chr12	133121791	.	A	G	823.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.196;DP=283;ExcessHet=0;FS=0.825;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.69;ReadPosRankSum=0.28;SOR=0.822	GT:AD:DP:GQ:PL	0/1:49,36:85:99:834,0,1198	6	0	1	0
chr13	20189125	20189125	C	T	exonic	GJB2	.	nonsynonymous SNV	GJB2:NM_004004:exon2:c.G457A:p.V153I	Bart-Pumphrey syndrome, Autosomal dominant;Deafness, autosomal dominant 3A, Autosomal dominant;Deafness, autosomal recessive 1A, Autosomal recessive, Digenic dominant;Hystrix-like ichthyosis with deafness, Autosomal dominant;Keratitis-ichthyosis-deafness syndrome, Autosomal dominant;Keratoderma, palmoplantar, with deafness, Autosomal dominant;Vohwinkel syndrome, Autosomal dominant	0	1428	89	5	0	99	0.0335025	.	.	YES	53921	not_specified|Autosomal_recessive_nonsyndromic_hearing_loss_1A|Autosomal_dominant_nonsyndromic_hearing_loss_3A|Hearing_loss,_autosomal_recessive|Nonsyndromic_genetic_hearing_loss|Ichthyosis,_hystrix-like,_with_hearing_loss|not_provided|Mutilating_keratoderma|X-linked_mixed_hearing_loss_with_perilymphatic_gusher|Autosomal_dominant_keratitis-ichthyosis-hearing_loss_syndrome|Palmoplantar_keratoderma-deafness_syndrome|Knuckle_pads,_deafness_AND_leukonychia_syndrome	MedGen:CN169374|MONDO:MONDO:0009076,MedGen:C2673759,OMIM:220290,Orphanet:90636|MONDO:MONDO:0011103,MedGen:C2675750,OMIM:601544,Orphanet:90635|MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636|MONDO:MONDO:0019497,MedGen:C5680182,Orphanet:87884|MONDO:MONDO:0011245,MedGen:C1865234,OMIM:602540,Orphanet:477|MedGen:C3661900|MONDO:MONDO:0007422,MedGen:C0265964,OMIM:124500,Orphanet:494|MONDO:MONDO:0010576,MedGen:C1844678,OMIM:304400,Orphanet:383|MONDO:MONDO:0007850,MedGen:C0265336,OMIM:148210,Orphanet:477|MONDO:MONDO:0007852,MedGen:C1835672,OMIM:148350,Orphanet:2202|MONDO:MONDO:0007866,MedGen:C0266004,OMIM:149200,Orphanet:2698	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.384	.	0.0022	0.0131789	0.0106	0.0003	0.0021	0.0001	0.0027	0.0045	0.0133	0.0559	0.0093789	1450	154602	rs111033186	0.0056	0.0056	0.0039	0.0073	0.0532	0.0055	0.0055	0.0519	0.0514	0.0004	0.0015	0.0125	0.0002	0.0024	0.0130	0.0023	0.0065	0.0532	0.0041	0.0041	0.0033	0.0049	0.0537	0.0038	0.0037	0.0483	0.0463	0.0002	0	0.0018	0.0112	0.0002	0.0011	0.0068	0.0039	0.0024	0.0537	1.0	0.00964	T	1.0	0.01155	T	0.003	0.11197	B	0.007	0.12992	B	0.002985	0.35606	N	0.194247	0.81569	0.34703	D	-0.305	0.03614	N	-3.69	0.95317	D	0.21	0.04776	N	0.037	0.01347	-0.1897	0.77935	T	0.500	0.81081	T	10	0.0035775304	0.00065	T	.	.	.	0.384	0.70112	.	.	.	.	0.7986003561244597	0.79813	0.0344876997802	0.03621	0.396479845047	0.24579	T	0.514834	0.82919	D	-0.343221	0.05168	T	-0.22706	0.52055	T	0.00172557914567628	0.00018	T	0.775922	0.40781	T	0.118389055	0.27895	0.07755717	0.17290	0.15799402	0.35569	0.084154546	0.19337	-2.737	0.07619	T	0.08005930382270487	0.04003	0.074	0.05188	B	.;.;.	.;.;.	2.535416	0.32792	19.15	0.75964087230707467	0.11280	0.42497	0.26891	N	AEFBHCI	0.189679	0.31693	N	-0.689546288893229	0.16319	0.8303233	-0.521671695966085	0.21565	1.167199	0.999999795805695	0.74766	0.59774	0.34471	0	0.61073	0.52368	0	0.61531	0.40942	0	0.63947	0.58350	0	.	.	5.47	5.47	0.80345	0.240000	0.17822	6.006000	0.52567	0.599000	0.40250	0.001000	0.13787	1.000000	0.68203	0.271000	0.23793	0.0:0.7829:0.1429:0.0743	9.616	0.38854	682	0.59757	Connexin, N-terminal|Gap junction protein, cysteine-rich domain;Connexin, N-terminal|Gap junction protein, cysteine-rich domain;Connexin, N-terminal|Gap junction protein, cysteine-rich domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.015106	0.000000	0.004076	0.008772	0.000000	0.000000	0.024390	0.041667	0.07143	986.44	94	chr13	20189125	.	C	T	986.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.11;DP=297;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.49;ReadPosRankSum=-1.259;SOR=0.707	GT:AD:DP:GQ:PL	0/1:55,39:94:99:997,0,1368	6	0	1	0
chr13	42303097	42303097	G	C	exonic	AKAP11	.	nonsynonymous SNV	AKAP11:NM_016248:exon8:c.G4351C:p.V1451L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00348779331928	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0058	0.0001	0.0001	0.0004	0.0001	0.0001	0.0001	0.0001	0.0001	2.239e-05	0.0002	0.0001	0	0.0004	0.0002	0.0001	5.842e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.732	0.03787	T	0.652	0.06690	T	0.0	0.02946	B	0.0	0.01387	B	0.384222	0.04439	N	1.329080	1	0.08975	N	-0.695	0.01866	N	1.03	0.40469	T	0.12	0.05604	N	0.01	0.00095	-1.0487	0.14761	T	0.025	0.10553	T	10	0.03053692	0.01181	T	0.003488	0.07908	T	0.040	0.10527	0.282	0.23801	0.174091166621	0.17034	0.08873411500846382	0.08806	0.0437477432083	0.04714	0.247362196445	0.03495	T	0.00156	0.01004	T	-0.357409	0.04279	T	-0.75117	0.03440	T	0.0190869918422606	0.00616	T	0.254375	0.03921	T	0.018132178	0.00335	0.025108913	0.00546	0.018132178	0.00334	0.025108913	0.00545	-2.626	0.06703	T	.	.	0.106	0.19839	B	.	.	-0.851205	0.01010	0.042	0.27875280092314592	0.01405	0.12762	0.17464	N	AEFBCI	0.031390	0.03350	N	-1.67084211627419	0.00950	0.04116467	-1.65714055191059	0.01339	0.06045885	0.999931029354219	0.46732	0.706548	0.73137	0	0.702456	0.74545	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.98	-6.75	0.01575	0.231000	0.17651	-0.238000	0.10617	-0.111000	0.15049	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.2747:0.1624:0.2842:0.2787	0.459	0.00478	675	0.60470	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3571	599.43	61	chr13	42303097	.	G	C	599.43	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-1.816;DP=548;ExcessHet=4.7409;FS=227.48;MLEAC=5;MLEAF=0.357;MQ=60;MQRankSum=0;QD=1.35;ReadPosRankSum=1.65;SOR=9.17	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:51,10:61:47:0|1:42303097_G_C:47,0,1606:42303097	2	0	5	0
chr13	48459808	48459808	T	C	exonic	RB1	.	nonsynonymous SNV	RB1:NM_000321:exon20:c.T2081C:p.L694P	Bladder cancer, somatic;Osteosarcoma, somatic;Retinoblastoma, Autosomal dominant, Somatic mutation;Retinoblastoma, trilateral, Autosomal dominant, Somatic mutation;Small cell cancer of the lung, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.976	0.602785562062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.392e-06	5.093e-05	2.774e-06	0	1.836e-06	2.3e-07	9e-08	3.1e-07	1.1e-07	0	0	0	0	0	0	1.836e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.62929	D	0.000000	1	0.81001	D	3.345	0.91022	M	-3.77	0.95595	D	-6.07	0.89871	D	0.984	0.99337	1.097	0.99525	D	0.943	0.98136	D	10	0.9566928	0.95037	D	0.602786	0.96508	D	0.976	0.99783	0.78	0.90465	0.995699770876	0.99565	0.980477162488264	0.98038	1.68776258327	0.90085	0.897795319557	0.96192	D	0.975174	0.99754	D	0.560843	0.96253	D	0.567835	0.96194	D	0.999335587024689	0.97004	D	0.909909	0.68110	D	0.9948388	0.99958	0.97334516	0.99602	0.9948388	0.99958	0.97334516	0.99602	-13.406	0.90966	D	0.9398642061341252	0.97687	0.998	0.97486	P	.;.	.;.	5.226627	0.87722	29.3	0.99926600234762908	0.99103	0.97876	0.77794	D	AEFBI	0.964519	0.98666	D	0.915122981473785	0.92480	11.44748	0.844938188139194	0.92718	11.58983	0.999996381698106	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	5.48	5.48	0.80675	7.674000	0.83146	7.932000	0.75071	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	15.564	0.76018	726	0.54788	Retinoblastoma-associated protein, B-box|Cyclin-like|Cyclin-like;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	257.6	65	chr13	48459808	.	T	C	257.6	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-1.879;DP=428;ExcessHet=3.1439;FS=244.247;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=0.76;ReadPosRankSum=1.1;SOR=9.044	GT:AD:DP:GQ:PL	0/1:54,11:65:5:5,0,1242	2	0	4	1
chr13	49482808	49482808	A	G	exonic	SETDB2;SETDB2-PHF11	.	nonsynonymous SNV	SETDB2:NM_001160308:exon9:c.A1228G:p.M410V,SETDB2:NM_001320699:exon9:c.A1228G:p.M410V,SETDB2-PHF11:NM_001320727:exon9:c.A1228G:p.M410V,SETDB2:NM_031915:exon10:c.A1264G:p.M422V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.00855278507866	.	.	8.321e-06	0	0	0	0	1.514e-05	0	0	6.5e-06	1	154602	rs778526695	1.576e-05	1.573e-05	1.227e-05	1.927e-05	0.0002	1.049e-05	8.76e-06	1.297e-05	1.107e-05	0	0	0	0	0	0.0002	1.981e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.812	0.03020	T	1.0	0.01155	T	0.002	0.09854	B	0.003	0.08700	B	0.168408	0.17448	N	0.613955	0.999774	0.20412	N	1.045	0.26769	L	1.36	0.34452	T	0.7	0.02163	N	0.074	0.04790	-0.8110	0.54490	T	0.388	0.74312	T	10	0.05561936	0.06108	T	0.008553	0.22606	T	0.086	0.25016	0.452	0.51448	0.115124310173	0.11017	0.673299613945574	0.67267	0.234792991846	0.26015	0.307211339474	0.11486	T	0.008992	0.08979	T	-0.250827	0.13996	T	-0.598072	0.12973	T	0.00810955185443163	0.00097	T	0.534647	0.17878	T	0.027369328	0.01919	0.04607731	0.06342	0.027369328	0.01918	0.04607731	0.06341	-2.319	0.04761	T	.	.	0.059	0.02228	B	.;.;.;.	.;.;.;.	0.287565	0.06639	3.138	0.31773090489465733	0.01807	0.06006	0.11970	N	AEFBI	0.034173	0.04186	N	-0.690321657121716	0.16295	0.8290093	-0.575948256847162	0.20121	1.082634	0.71088018349685	0.22818	0.732398	0.92422	0	0.743671	0.97443	0	0.618467	0.43123	0	0.683762	0.67416	0	.	.	5.47	1.58	0.22557	1.109000	0.30749	0.881000	0.22395	0.756000	0.94297	0.402000	0.26186	0.641000	0.25915	0.893000	0.43066	0.4823:0.0:0.3382:0.1796	3.275	0.06489	838	0.37812	SET domain|SET domain|SET domain;SET domain|SET domain;.;SET domain|SET domain|SET domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	244.63	28	chr13	49482808	.	A	G	244.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.412;DP=207;ExcessHet=0;FS=1.518;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.74;ReadPosRankSum=0.161;SOR=0.586	GT:AD:DP:GQ:PL	0/1:15,13:28:99:255,0,358	6	0	1	0
chr13	50015883	50015883	-	A	exonic	KCNRG	.	frameshift insertion	KCNRG:NM_173605:exon1:c.391dupA:p.T132Nfs*3,KCNRG:NM_199464:exon1:c.391dupA:p.T132Nfs*3	.	431	1083	8	0	0	8	0.00367985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.471e-05	0	0	0	0	4.496e-05	0	0	1.94e-05	3	154602	rs780873281	5.883e-05	5.883e-05	6.806e-05	4.95e-05	0.0009	4.876e-05	4.496e-05	0.0003	0.0002	0	0.0002	0	0	1.872e-05	0.0009	5.576e-05	0.0001	3.478e-05	2.629e-05	2.627e-05	5.138e-05	0	0.0001	8.14e-06	5.14e-06	2.26e-05	9.07e-06	0	0	0.0001	0	0	0	0	2.94e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001036	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1891.4	129	chr13	50015883	.	C	CA	1891.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.024;DP=330;ExcessHet=0;FS=6.613;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.66;ReadPosRankSum=-0.935;SOR=0.838	GT:AD:DP:GQ:PL	0/1:58,71:129:99:1902,0,1505	6	0	1	0
chr13	52666878	52666878	A	G	exonic	SUGT1	.	nonsynonymous SNV	SUGT1:NM_006704:exon10:c.A586G:p.I196V,SUGT1:NM_001130912:exon11:c.A682G:p.I228V,SUGT1:NM_001320831:exon11:c.A418G:p.I140V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	.	7.7e-05	0.00139776	0.0009	0	0	0	0.0125	0.0004	0.0011	0	0.0007568	117	154602	rs187331422	0.0005	0.0005	0.0005	0.0005	0.0001	0.0005	0.0005	0.0001	0.0001	0	2.237e-05	0	2.53e-05	0.0102	0	0.0001	0.0004	0	0.0010	0.0010	0.0006	0.0014	0.0003	0.0009	0.0008	0.0002	0.0002	0	0	0	0	0	0.0119	0	0.0003	0.0019	0	0.129	0.26852	T	0.241	0.24334	T	0.033	0.20350	B	0.116	0.31939	B	0.000000	0.84330	N	0.087510	1	0.81001	D	.	.	.	2.12	0.19726	T	-0.67	0.19297	N	0.309	0.39052	-1.1145	0.02710	T	0.047	0.20156	T	10	0.005187571	0.00113	T	.	.	.	0.088	0.25558	.	.	0.215239754934	0.21150	0.40788190115079853	0.40704	0.239585080843	0.26507	0.302658766508	0.10798	T	0.067266	0.33158	T	-0.499681	0.00574	T	-0.520613	0.20232	T	0.0500240707186785	0.05504	T	0.813419	0.47040	T	0.09245762	0.21692	0.08365304	0.19188	0.09245762	0.21692	0.08365304	0.19187	-6.032	0.46546	T	.	.	0.065	0.02012	B	.;.	.;.	1.337291	0.17432	13.16	0.99460583265131297	0.65788	0.85417	0.44548	D	AEFDBI	0.192023	0.31920	N	-0.130364229868667	0.36075	2.08036	0.00600329024373491	0.39992	2.379797	0.999617162173817	0.40981	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	6.07	4.9	0.63643	1.345000	0.33558	0.698000	0.20823	0.756000	0.94297	0.999000	0.42656	0.023000	0.20922	0.949000	0.49496	0.9283:0.0:0.0717:0.0	11.318	0.48642	356	0.85138	CS domain|CS domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	409.49	45	chr13	52666878	.	A	G	409.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.11;DP=193;ExcessHet=0;FS=1.154;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.1;ReadPosRankSum=-0.125;SOR=0.99	GT:AD:DP:GQ:PL	0/1:24,21:45:99:420,0,545	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	0/1:53,20:80:91:91,0,774	2	0	4	1
chr13	77753329	77753329	G	A	exonic	SLAIN1	.	nonsynonymous SNV	SLAIN1:NM_001242870:exon3:c.G188A:p.G63E,SLAIN1:NM_001242869:exon4:c.G188A:p.G63E,SLAIN1:NM_001242871:exon4:c.G527A:p.G176E,SLAIN1:NM_144595:exon4:c.G530A:p.G177E,SLAIN1:NM_001040153:exon5:c.G893A:p.G298E,SLAIN1:NM_001242868:exon5:c.G1385A:p.G462E,SLAIN1:NM_001366666:exon5:c.G530A:p.G177E,SLAIN1:NM_001366665:exon6:c.G1043A:p.G348E	.	452	1066	4	0	0	4	0.00187266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	0.00929951636696	.	0.000199681	0.0001	0	8.864e-05	0	0	3.091e-05	0	0.0006	9.06e-05	14	154602	rs551950144	5.625e-05	5.678e-05	3.55e-05	7.722e-05	0.0009	4.623e-05	4.248e-05	0.0005	0.0004	0	0	0	0	0	0.0009	1.621e-05	9.97e-05	0.0006	2.629e-05	2.625e-05	2.572e-05	2.689e-05	0.0004	8.14e-06	5.14e-06	7.299e-05	3.032e-05	0	0	6.547e-05	0	0	0	0	1.471e-05	0	0.0004	0.04	0.51248	D	0.046	0.62352	D	0.884	0.48618	P	0.586	0.50343	P	0.000124	0.49741	D	0.170352	0.887046	0.27949	N	1.955	0.52871	M	.	.	.	-1.98	0.45769	N	0.44	0.49783	-1.0453	0.15738	T	0.104	0.38267	T	9	0.051753104	0.05104	T	0.009	0.24413	T	0.129	0.35316	0.179	0.08626	0.043077524339	0.03247	0.3349875054027211	0.33411	0.985488010302	0.73883	0.454889029264	0.32612	T	0.046735	0.27512	T	-0.232358	0.16338	T	-0.219824	0.52753	T	0.114447645481105	0.13879	T	0.936706	0.77406	D	0.12765439	0.29866	0.20478088	0.44617	0.12765439	0.29866	0.20478088	0.44616	-4.676	0.44435	T	.	.	0.401	0.63932	A	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.812596	0.55007	23.6	0.99546669085951789	0.70836	0.89938	0.50737	D	AEFBI	0.599086	0.59224	D	0.0725616872476598	0.45186	2.779374	0.143805335062876	0.46815	2.921375	0.301890619433088	0.19197	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.620846	0.47308	0	.	.	5.25	3.49	0.39065	4.177000	0.58072	8.138000	0.76675	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.076:0.2999:0.6242:0.0	9.162	0.36194	146	0.94180	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.008621	0.000000	0.000000	0.07143	99.46	21	chr13	77753329	.	G	A	99.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.34;DP=140;ExcessHet=0;FS=2.172;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=4.74;ReadPosRankSum=-0.992;SOR=1.609	GT:AD:DP:GQ:PL	0/1:16,5:21:99:110,0,399	6	0	1	0
chr13	100368479	100368479	G	T	exonic	PCCA	.	nonsynonymous SNV	PCCA:NM_001352608:exon17:c.G1429T:p.V477F,PCCA:NM_001352612:exon17:c.G562T:p.V188F,PCCA:NM_001127692:exon18:c.G1573T:p.V525F,PCCA:NM_001352606:exon18:c.G1507T:p.V503F,PCCA:NM_001352607:exon18:c.G1573T:p.V525F,PCCA:NM_001352610:exon18:c.G706T:p.V236F,PCCA:NM_001352611:exon18:c.G706T:p.V236F,PCCA:NM_000282:exon19:c.G1651T:p.V551F,PCCA:NM_001178004:exon19:c.G1651T:p.V551F,PCCA:NM_001352605:exon19:c.G1651T:p.V551F,PCCA:NM_001352609:exon19:c.G1651T:p.V551F	Propionicacidemia, Autosomal recessive	35	1422	60	5	0	70	0.024022	.	.	.	47470	Propionic_acidemia|not_provided|not_specified	Human_Phenotype_Ontology:HP:0003571,MONDO:MONDO:0011628,MedGen:C0268579,OMIM:606054,Orphanet:35|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.042	.	0.0061	0.00279553	0.0077	0.0020	0.0058	0.0001	0.0020	0.0106	0.0099	0.0070	0.007846	1213	154602	rs61749895	0.0088	0.0091	0.0087	0.0090	0.0362	0.0087	0.0086	0.0322	0.0306	0.0020	0.0081	0.0100	0	0.0027	0.0362	0.0096	0.0098	0.0068	0.0070	0.0070	0.0066	0.0074	0.0128	0.0066	0.0065	0.0113	0.0107	0.0019	0	0.0128	0.0110	0	0.0023	0.0411	0.0096	0.0157	0.0054	0.51	0.50676	T	0.706	0.54541	T	0.072	0.23997	B	0.059	0.26602	B	0.000666	0.42516	D	0.092028	0.999897	0.19781	N	1.245	0.31408	L	-1.19	0.78427	T	-1.24	0.41428	N	0.253	0.29313	-0.9538	0.40310	T	0.166	0.50486	T	10	0.0050973594	0.00110	T	.	.	.	0.495	0.78036	.	.	0.237489013734	0.23353	0.5414792096076211	0.54072	0.18749610879	0.21068	0.274469137192	0.06733	T	0.405477	0.76164	T	-0.220797	0.17884	T	-0.0795484	0.64938	T	0.002613999720297	0.00027	T	0.686231	0.31753	T	0.10194706	0.24085	0.08496319	0.19583	0.09695565	0.22845	0.07956249	0.17920	-3.107	0.13455	T	0.09290950936720156	0.06056	0.096	0.15385	B	.;.;.;.	.;.;.;.	0.493760	0.08630	5.399	0.58896346874019345	0.06098	0.25735	0.22787	N	AEFGBI	0.246318	0.36709	N	-1.39697904296976	0.02667	0.1180743	-1.37944493398146	0.03472	0.1620144	0.93334498371539	0.27125	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.77	-1.81	0.07456	-0.163000	0.09986	-0.136000	0.11567	-0.678000	0.04252	0.706000	0.28683	0.000000	0.08366	0.310000	0.24737	0.2295:0.0:0.7705:0.0	13.543	0.61143	892	0.26670	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.023162	0.015152	0.031250	0.035088	0.050000	0.008621	0.015244	0.007576	0.07143	304.63	38	chr13	100368479	.	G	T	304.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.969;DP=196;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.02;ReadPosRankSum=-1.701;SOR=0.636	GT:AD:DP:GQ:PL	0/1:22,16:38:99:315,0,597	6	0	1	0
chr13	102734331	102734331	T	C	exonic	CCDC168	.	nonsynonymous SNV	CCDC168:NM_001146197:exon4:c.A16366G:p.T5456A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.0148895854277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.092	0.07125	-0.9161	0.46076	T	0.006	0.01981	T	9	0.051733285	0.05099	T	0.01489	0.35296	T	0.028	0.06331	.	.	0.0138822411134	0.00435	0.024895675462768038	0.02440	.	.	0.245660990477	0.03324	T	.	.	.	-0.315233	0.07294	T	-0.690587	0.06355	T	0.143874693153753	0.16604	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	0.17146	B	.	.	0.301452	0.06771	3.288	0.77975967936438151	0.12102	0.01964	0.05955	N	AEFGBI	0.026567	0.02019	N	-0.920023641302985	0.10374	0.4954366	-1.00124500250094	0.09758	0.487349	0.98340334688773	0.30553	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	3.63	1.14	0.19817	0.207000	0.17194	0.029000	0.13704	0.580000	0.29708	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.1239:0.2384:0.6377	3.724	0.07995	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	.	.	.	.	.	.	.	.	0.07143	1765.46	142	chr13	102734331	.	T	C	1765.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.009;DP=603;ExcessHet=0;FS=3.976;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.43;ReadPosRankSum=-2.638;SOR=0.471	GT:AD:DP:GQ:PL	0/1:71,71:142:99:1776,0,1862	6	0	1	0
chr13	102747739	102747739	C	G	exonic	CCDC168	.	nonsynonymous SNV	CCDC168:NM_001146197:exon4:c.G2958C:p.K986N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	7.525e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	0.50809	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.03841	.	.	.	.	.	.	.	0.071324736	0.10499	T	.	.	.	.	.	.	.	0.0716867268079	0.06686	0.029755569922110755	0.02924	.	.	0.339609414339	0.16379	T	.	.	.	-0.183105	0.23276	T	-0.500794	0.22266	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.484	0.63867	A	.	.	2.482158	0.32012	18.91	0.76786657609047815	0.11609	0.06593	0.12608	N	AEFGBI	.	.	.	.	.	.	.	.	.	0.974835266602416	0.29578	0.07523	0.01759	0	0.085267	0.02369	0	0.063197	0.01477	0	0.091162	0.02695	0	0.166294	0.28576	4.21	2.49	0.29274	0.370000	0.20166	-0.592000	0.08316	0.599000	0.40250	0.003000	0.16062	0.000000	0.08366	0.974000	0.55675	0.0:0.7826:0.0:0.2174	6.417	0.20924	939	0.14249	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	46.76	154	chr13	102747739	.	C	G	46.76	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-3.158;DP=971;ExcessHet=0;FS=305.299;MLEAC=1;MLEAF=0.125;MQ=60;MQRankSum=0;QD=0.38;ReadPosRankSum=0.66;SOR=10.138	GT:AD:DP:GQ:PL	0/1:91,33:154:54:54,0,1595	3	0	1	3
chr13	102758903	102758903	T	-	exonic	CCDC168	.	stopgain	CCDC168:NM_001146197:exon1:c.30delA:p.V12*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.75e-06	6.225e-05	2.838e-06	8.739e-06	7.454e-06	2.47e-06	1.79e-06	3.21e-06	2.32e-06	0	0	0	0	0	0	7.454e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	33.23	7	chr13	102758902	.	CT	C	33.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.068;DP=91;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=4.75;ReadPosRankSum=1.98;SOR=0.148	GT:AD:DP:GQ:PL	0/1:5,2:7:43:43,0,138	5	0	1	1
chr13	109784855	109784856	CT	-	exonic	IRS2	.	frameshift deletion	IRS2:NM_003749:exon1:c.1198_1199del:p.S400Pfs*138	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	47.34	11	chr13	109784854	.	GCT	G	47.34	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.23;DP=61;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=4.3;ReadPosRankSum=0;SOR=0.527	GT:AD:DP:GQ:PL	0/1:9,2:11:57:57,0,372	5	0	1	1
chr13	113081271	113081271	G	A	exonic	MCF2L	.	nonsynonymous SNV	MCF2L:NM_001366645:exon14:c.G1753A:p.V585I,MCF2L:NM_001366646:exon14:c.G1753A:p.V585I,MCF2L:NM_001112732:exon16:c.G1867A:p.V623I,MCF2L:NM_001320815:exon16:c.G1861A:p.V621I,MCF2L:NM_001320816:exon16:c.G1879A:p.V627I,MCF2L:NM_001320817:exon16:c.G1861A:p.V621I,MCF2L:NM_001366644:exon16:c.G1780A:p.V594I,MCF2L:NM_024979:exon16:c.G1861A:p.V621I	.	419	1097	6	0	0	6	0.00272727	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.0192942946038	0.0015	0.000399361	0.0031	0	0.0013	0.0003	0.0014	0.0051	0	0.0020	0.0014748	228	154602	rs146542168	0.0028	0.0028	0.0028	0.0028	0.0034	0.0027	0.0027	0.0033	0.0032	0.0005	0.0013	7.855e-05	0.0001	0.0001	0.0023	0.0034	0.0018	0.0013	0.0019	0.0019	0.0022	0.0015	0.0030	0.0017	0.0016	0.0027	0.0026	0.0008	0.0011	0.0022	0	0.0002	0	0.0068	0.0030	0.0019	0.0019	0.44	0.09264	T	0.606	0.08134	T	0.709	0.77913	P	0.324	0.63340	B	0.000000	0.84330	D	0.000000	0.977334	0.39357	D	0.1	0.08449	N	0.19	0.60236	T	-0.53	0.16393	N	0.197	0.22486	-0.9360	0.43241	T	0.153	0.48188	T	10	0.009700358	0.00218	T	0.019294	0.41613	T	0.101	0.28911	.	.	0.766799274583	0.76466	0.24310633720146085	0.24224	0.290956997048	0.31498	0.49343007803	0.37915	T	0.046758	0.27521	T	-0.419958	0.01711	T	-0.375064	0.36297	T	0.0179173221769999	0.00518	T	0.924508	0.72366	D	0.06046662	0.12410	0.055271298	0.09665	0.06046662	0.12410	0.055271298	0.09664	-4.689	0.34145	T	.	.	0.086	0.17060	B	.;.;.;.;.;.	.;.;.;.;.;.	3.758385	0.53913	23.4	0.99232599313429859	0.56278	0.73348	0.35880	D	AEFDBCI	0.213983	0.33950	N	-0.121835818506463	0.36442	2.106546	-0.0170206137143025	0.38946	2.301901	0.999038905488274	0.38264	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	4.3	3.45	0.38602	1.074000	0.30315	8.068000	0.76428	0.676000	0.76740	0.750000	0.29133	1.000000	0.68203	0.993000	0.69303	0.2052:0.0:0.7948:0.0	7.328	0.25739	994	0.00715	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	0.001021	0.000000	0.000000	0.002941	0.050000	0.000000	0.003125	0.000000	0.07143	686.63	63	chr13	113081271	.	G	A	686.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.225;DP=243;ExcessHet=0;FS=0.962;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.9;ReadPosRankSum=-1.437;SOR=0.523	GT:AD:DP:GQ:PL	0/1:31,32:63:99:697,0,680	6	0	1	0
chr13	113766124	113766124	C	T	exonic	TMEM255B	.	nonsynonymous SNV	TMEM255B:NM_001348663:exon2:c.C56T:p.S19L,TMEM255B:NM_182614:exon2:c.C56T:p.S19L	.	428	1091	3	0	0	3	0.001373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.00429569265551	.	.	0.0003	0	0	0	0	3.003e-05	0	0.0019	0.0002135	33	154602	rs754716183	0.0001	0.0001	8.44e-05	0.0002	0.0018	0.0001	0.0001	0.0016	0.0015	2.987e-05	0	0	0	0	0.0005	2.068e-05	0.0001	0.0018	8.535e-05	8.531e-05	7.709e-05	9.399e-05	0.0008	4.953e-05	3.96e-05	0.0003	0.0002	2.406e-05	0	0.0002	0	0.0002	0	0.0068	2.94e-05	0	0.0008	0.151	0.24564	T	0.093	0.39799	T	0.625	0.40054	P	0.088	0.29688	B	.	.	.	.	1	0.08975	N	1.1	0.28011	L	0.94	0.43672	T	-1.69	0.40274	N	0.231	0.25989	-1.0744	0.08472	T	0.056	0.23527	T	9	0.016188085	0.00340	T	0.004296	0.10404	T	0.014	0.01968	0.269	0.21735	0.112648838833	0.10856	0.2910769508054306	0.29020	0.0645193683208	0.07196	0.655000805855	0.60696	T	0.046655	0.27488	T	-0.583177	0.00184	T	-0.640549	0.09628	T	0.0191623897974047	0.00623	T	0.644736	0.25622	T	0.048963964	0.08619	0.066438876	0.13609	0.048963964	0.08619	0.066438876	0.13609	-6.633	0.51304	T	.	.	0.098	0.16054	B	.;.	.;.	0.990505	0.13686	10.22	0.94220443256158315	0.24468	0.01848	0.05718	N	AEFDBI	0.044425	0.07145	N	-0.884723423925185	0.11205	0.5394989	-0.972976633820077	0.10394	0.5232541	0.999942425292484	0.47345	0.706548	0.73137	0	0.59043	0.45803	0	0.596874	0.31795	0	0.714379	0.83352	0	.	.	4.42	0.465	0.15923	0.907000	0.28154	-0.858000	0.07152	0.469000	0.21855	0.408000	0.26234	0.000000	0.08366	0.005000	0.06747	0.0:0.5534:0.2807:0.1658	6.398	0.20827	964	0.07719	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	200.44	46	chr13	113766124	.	C	T	200.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.395;DP=226;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=4.36;ReadPosRankSum=2.12;SOR=0.542	GT:AD:DP:GQ:PL	0/1:34,12:46:99:211,0,923	6	0	1	0
chr14	20584035	20584035	C	T	exonic	RNASE11	.	nonsynonymous SNV	RNASE11:NM_145250:exon3:c.G440A:p.C147Y	.	431	1086	5	0	0	5	0.00229674	.	.	.	2765872	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.140	0.00735921811052	.	0.000199681	0.0002	0	0.0003	0	0	7.503e-05	0	0.0011	0.0001746	27	154602	rs151131974	0.0001	0.0001	7.351e-05	0.0001	0.0019	8.713e-05	8.2e-05	0.0011	0.0008	0	8.945e-05	0	0	0	0.0019	3.237e-05	0.0002	0.0010	5.909e-05	5.906e-05	6.424e-05	5.371e-05	0.0008	3.075e-05	2.209e-05	0.0003	0.0002	0	0	0	0	0	0	0	7.351e-05	0	0.0008	0.186	0.22486	T	0.519	0.10501	T	0.058	0.22967	B	0.029	0.21540	B	0.002655	0.36173	N	0.224065	1	0.08975	N	1.79	0.46772	L	-1.02	0.76300	T	-4.96	0.88767	D	0.074	0.07811	-0.9980	0.30479	T	0.163	0.49864	T	10	0.014668316	0.00308	T	0.007359	0.19523	T	0.140	0.37593	.	.	0.211220785272	0.20719	0.2328282016904606	0.23197	.	.	0.276590049267	0.07021	T	0.107313	0.41941	T	-0.350637	0.04687	T	-0.33279	0.41157	T	0.0248955837506147	0.01258	T	0.40126	0.10220	T	0.115086384	0.27161	0.19686542	0.43439	0.115086384	0.27161	0.19686542	0.43438	-3.704	0.19377	T	.	.	0.126	0.30318	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	1.288052	0.16887	12.83	0.91188942563662867	0.20444	0.01423	0.04798	N	AEFBI	0.064085	0.12422	N	-1.14878869127767	0.05799	0.2653425	-1.20655950234561	0.05804	0.2775745	0.99918908366295	0.38681	0.487112	0.14033	0	0.573888	0.26702	0	0.491513	0.07944	0	0.530356	0.10902	0	.	.	3.94	-3.12	0.04959	-0.289000	0.08401	-1.865000	0.04588	0.542000	0.25261	0.000000	0.06391	0.000000	0.08366	0.905000	0.44082	0.4042:0.3086:0.0:0.2872	3.365	0.06779	940	0.13648	Ribonuclease A-domain;Ribonuclease A-domain;Ribonuclease A-domain;Ribonuclease A-domain;Ribonuclease A-domain;Ribonuclease A-domain;Ribonuclease A-domain;Ribonuclease A-domain;Ribonuclease A-domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1273.49	93	chr14	20584035	.	C	T	1273.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.182;DP=279;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.69;ReadPosRankSum=-0.116;SOR=0.707	GT:AD:DP:GQ:PL	0/1:40,53:93:99:1284,0,857	6	0	1	0
chr14	20641346	20641346	G	T	exonic	OR6S1	.	nonsynonymous SNV	OR6S1:NM_001001968:exon1:c.C346A:p.L116M	.	425	1022	71	4	0	79	0.0372115	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	.	0.0070	0.00678914	0.0100	0.0009	0.0073	0.0002	0.0142	0.0092	0.0132	0.0239	0.0095924	1483	154602	rs72659934	0.0096	0.0096	0.0091	0.0102	0.0251	0.0095	0.0094	0.0242	0.0238	0.0011	0.0058	0.0066	0.0001	0.0151	0.0186	0.0090	0.0093	0.0251	0.0073	0.0073	0.0067	0.0080	0.0243	0.0069	0.0068	0.0207	0.0193	0.0013	0.0164	0.0080	0.0049	0.0008	0.0157	0.0068	0.0087	0.0100	0.0243	0.002	0.72154	D	0.005	0.72224	D	0.99	0.63424	D	0.895	0.63489	P	0.002465	0.36499	N	0.000000	0.999994	0.08975	N	3.03	0.86425	M	2.6	0.13204	T	-1.75	0.41428	N	0.245	0.27673	-1.0891	0.05684	T	0.059	0.24760	T	10	0.0075003207	0.00170	T	.	.	.	0.106	0.30130	.	.	.	.	0.08102884940831236	0.08037	0.0777633554608	0.08748	0.300130873919	0.10420	T	0.007311	0.06724	T	-0.483694	0.00704	T	-0.449316	0.27773	T	0.0483692759940438	0.05211	T	0.938006	0.76748	D	0.50906944	0.67625	0.53427285	0.73088	0.50906944	0.67626	0.53427285	0.73089	-8.335	0.63331	D	.	.	0.279	0.51236	B	.	.	2.848611	0.37605	20.5	0.99636242048711365	0.76387	0.22463	0.21755	N	AEFBI	0.095467	0.19287	N	0.367726829928538	0.59681	4.14961	0.291694043039854	0.55051	3.668843	0.146601963832402	0.17369	0.59774	0.34471	0	0.550933	0.16991	0	0.547309	0.15389	0	0.63947	0.58350	0	.	.	5.22	4.32	0.50899	0.678000	0.24956	1.260000	0.25225	0.656000	0.54149	0.239000	0.24738	0.767000	0.26670	0.950000	0.49671	0.0864:0.0:0.9136:0.0	11.814	0.51473	940	0.13648	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	0.018127	0.000000	0.017663	0.017544	0.100000	0.034483	0.018293	0.030303	0.07143	1138.53	82	chr14	20641346	.	G	T	1138.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.026;DP=373;ExcessHet=0;FS=5.697;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.88;ReadPosRankSum=0.771;SOR=0.474	GT:AD:DP:GQ:PL	0/1:36,46:82:99:1149,0,861	6	0	1	0
chr14	20641390	20641390	G	T	exonic	OR6S1	.	nonsynonymous SNV	OR6S1:NM_001001968:exon1:c.C302A:p.T101N	.	425	1092	5	0	0	5	0.00228415	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.00285869788617	.	0.00179712	0.0009	0	8.637e-05	0	0	0	0	0.0067	0.0008021	124	154602	rs577080351	0.0003	0.0003	0.0002	0.0005	0.0056	0.0003	0.0003	0.0052	0.0050	2.987e-05	0	0	0	0	0.0007	3.597e-06	0.0003	0.0056	0.0002	0.0002	0.0001	0.0003	0.0064	0.0002	0.0001	0.0047	0.0041	0	0	0	0	0	0	0	1.47e-05	0	0.0064	0.002	0.72154	D	0.025	0.56192	D	0.76	0.43524	P	0.522	0.48285	P	0.110010	0.19460	N	0.436531	1	0.08975	N	3.525	0.93020	H	4.08	0.03003	T	-3.46	0.67705	D	0.495	0.52829	-1.0442	0.16059	T	0.019	0.08173	T	10	0.009497911	0.00214	T	0.002859	0.06015	T	0.094	0.27141	0.448	0.50793	0.566121633045	0.56276	0.1097530927884315	0.10904	0.0232995929772	0.02366	0.34138405323	0.16645	T	0.005962	0.05402	T	-0.455572	0.01047	T	-0.424424	0.30569	T	0.278589058412922	0.24112	T	0.20138	0.02300	T	0.4838798	0.66135	0.7320531	0.84166	0.4838798	0.66135	0.7320531	0.84167	-9.894	0.73274	D	.	.	0.357	0.57053	A	.	.	3.529230	0.49512	22.8	0.99283512833859244	0.58008	0.21322	0.21360	N	AEFBI	0.123714	0.23944	N	0.2113976432456	0.51751	3.353944	0.179499319358415	0.48724	3.084581	0.403809005002229	0.20153	0.59774	0.34471	0	0.550933	0.16991	0	0.547309	0.15389	0	0.63947	0.58350	0	.	.	5.22	4.08	0.46880	0.256000	0.18120	3.467000	0.38554	0.656000	0.54149	0.000000	0.06391	0.547000	0.25447	0.994000	0.71098	0.2405:0.0:0.7595:0.0	5.406	0.15620	940	0.13648	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	1049.53	96	chr14	20641390	.	G	T	1049.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.55;DP=386;ExcessHet=0;FS=1.658;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.93;ReadPosRankSum=-1.069;SOR=0.573	GT:AD:DP:GQ:PL	0/1:51,45:96:99:1060,0,1307	6	0	1	0
chr14	21074797	21074799	GAG	-	exonic	ARHGEF40	.	nonframeshift deletion	ARHGEF40:NM_018071:exon3:c.1067_1069del:p.G362del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0057	0.000798722	0.0008	0.0008	0.0014	0.0004	0.0002	0.0008	0.0025	0.0011	0.0006533	101	154602	rs545146973	0.0002	0.0005	0.0002	0.0003	0.0009	0.0002	0.0002	0.0006	0.0006	9.019e-05	0.0009	0.0002	0.0003	0.0002	0.0004	0.0002	0.0003	0.0004	0.0001	0.0001	0.0001	0.0001	0.0007	8.664e-05	7.256e-05	0.0004	0.0003	2.406e-05	0	0.0007	0	0	0	0	0.0001	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.185109	0.277778	0.132514	0.128655	0.200000	0.184211	0.202532	0.146154	0.07143	577.45	29	chr14	21074796	.	AGAG	A	577.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.202;DP=236;ExcessHet=0;FS=1.485;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=19.91;ReadPosRankSum=0.918;SOR=0.375	GT:AD:DP:GQ:PL	0/1:14,15:29:99:588,0,543	6	0	1	0
chr14	21326062	21326062	C	T	exonic	RPGRIP1	.	nonsynonymous SNV	RPGRIP1:NM_001377948:exon7:c.C1525T:p.R509W,RPGRIP1:NM_020366:exon17:c.C2599T:p.R867W	Cone-rod dystrophy 13;Leber congenital amaurosis 6	1	1519	2	0	0	2	0.000657895	.	.	.	177015	not_specified|Cone-rod_dystrophy_13|Leber_congenital_amaurosis_6	MedGen:CN169374|MONDO:MONDO:0011987,MedGen:C2750720,OMIM:608194,Orphanet:1872|MONDO:MONDO:0013446,MedGen:C1854260,OMIM:613826,Orphanet:65	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.275	0.0337753729808	0.0019	0.00259585	0.0007	0.0063	0.0006	0.0002	0	1.5e-05	0	0.0004	0.0006468	100	154602	rs186803989	0.0002	0.0002	0.0002	0.0002	0.0056	0.0002	0.0002	0.0050	0.0047	0.0056	0.0004	0	2.519e-05	0	0.0012	4.767e-05	0.0003	0.0003	0.0017	0.0017	0.0018	0.0017	0.0061	0.0015	0.0015	0.0055	0.0052	0.0061	0	0.0001	0	0.0002	0	0	0	0.0024	0.0004	0.084	0.32929	T	0.077	0.43721	T	0.009	0.15093	B	0.003	0.08700	B	0.119679	0.19065	N	0.568233	0.997782	0.44189	D	1.155	0.29575	L	-2.35	0.88066	D	-2.86	0.62151	D	0.253	0.29081	-0.7203	0.59449	T	0.291	0.66316	T	10	0.0068340898	0.00155	T	0.033775	0.55220	D	0.275	0.59130	.	.	0.83501569805	0.83344	0.4919556089051551	0.49116	0.0721809193313	0.08090	0.22621807456	0.01700	T	0.09872	0.57277	T	-0.358598	0.04209	T	-0.284988	0.46292	T	0.0158608499601534	0.00372	T	0.741926	0.36121	T	0.102459155	0.24212	0.10245883	0.24557	0.10174799	0.24036	0.13032167	0.31315	-7.772	0.59506	D	0.649972062814764	0.72196	0.122	0.25592	B	.;.;.	.;.;.	2.303218	0.29477	18.13	0.98722460769288756	0.45230	0.06258	0.12249	N	AEFBI	0.208955	0.33499	N	-0.616086159376306	0.18461	0.9586124	-0.496601072337476	0.22248	1.207442	0.998543272720961	0.37167	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.87	3.98	0.45383	-0.121000	0.10618	0.566000	0.19559	0.599000	0.40250	0.001000	0.13787	0.078000	0.22336	0.772000	0.36596	0.1663:0.5841:0.161:0.0887	3.825	0.08364	952	0.10565	C2 domain;C2 domain;C2 domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1840.46	166	chr14	21326062	.	C	T	1840.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.256;DP=349;ExcessHet=0;FS=1.949;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.09;ReadPosRankSum=0.304;SOR=0.874	GT:AD:DP:GQ:PL	0/1:86,80:166:99:1851,0,1953	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	0/1:43,40:83:99:968,0,1031	5	0	2	0
chr14	24137381	24137381	C	T	exonic	PSME1	.	nonsynonymous SNV	PSME1:NM_001281528:exon4:c.C196T:p.P66S,PSME1:NM_001281529:exon4:c.C196T:p.P66S,PSME1:NM_006263:exon4:c.C196T:p.P66S,PSME1:NM_176783:exon4:c.C196T:p.P66S	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.618	0.405082011431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.003	0.79402	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.66	0.77858	M	-0.44	0.69777	T	-7.02	0.93786	D	0.604	0.62781	0.078	0.83776	D	0.499	0.81057	T	10	0.8613752	0.85359	D	0.405082	0.93480	D	0.618	0.85144	0.723	0.85761	0.848513814992	0.84706	0.6190026284222638	0.61833	0.898485195106	0.70554	0.64682495594	0.59534	T	0.372599	0.73675	T	0.178823	0.71935	D	0.019091	0.71571	D	0.994862377643585	0.86429	D	.	.	.	0.8021111	0.84041	0.7465579	0.85019	0.8021111	0.84043	0.7465579	0.85020	-4.803	0.35543	T	.	.	0.933	0.85316	P	.;.;.	.;.;.	4.865856	0.79668	27.2	0.99852909191406092	0.93191	0.95469	0.64845	D	AEFBHCI	0.848804	0.76562	D	0.606097762685663	0.73561	5.986048	0.487632054419544	0.67169	5.048226	0.999999999997477	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.26897	0.05253	2	0.735409	0.98432	0	.	.	4.88	4.88	0.63131	5.996000	0.70309	7.690000	0.65738	0.575000	0.29119	0.999000	0.42656	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	15.575	0.76115	894	0.26265	Proteasome activator PA28, N-terminal domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	481.46	48	chr14	24137381	.	C	T	481.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.527;DP=228;ExcessHet=0;FS=2.578;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.03;ReadPosRankSum=0.639;SOR=0.741	GT:AD:DP:GQ:PL	0/1:30,18:48:99:492,0,800	6	0	1	0
chr14	24336256	24336256	-	G	exonic	RIPK3	.	frameshift insertion	RIPK3:NM_006871:exon10:c.1475dupC:p.P493Tfs*9	.	420	1078	22	2	0	26	0.0119157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0032	0.00239617	0.0025	0.0009	0.0032	0	0.0009	0.0034	0.0033	0.0013	0.0008452	22	26028	rs531266348	0.0037	0.0037	0.0038	0.0036	0.0071	0.0036	0.0036	0.0054	0.0048	0.0011	0.0032	0.0041	0	0.0007	0.0071	0.0042	0.0043	0.0011	0.0031	0.0031	0.0033	0.0028	0.0062	0.0028	0.0027	0.0052	0.0048	0.0011	0.0044	0.0062	0.0026	0	0.0007	0.0102	0.0042	0.0047	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009063	0.005051	0.006793	0.026316	0.000000	0.000000	0.009146	0.007576	0.07143	1061.18	71	chr14	24336256	.	T	TG	1061.18	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.276;DP=254;ExcessHet=0.3476;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.15;ReadPosRankSum=0;SOR=0.616	GT:AD:DP:GQ:PL	0/1:31,40:71:99:1030,0,752	6	0	1	0
chr14	24414693	24414693	C	A	exonic	NYNRIN	.	nonsynonymous SNV	NYNRIN:NM_025081:exon9:c.C2944A:p.P982T	.	415	1085	22	0	0	22	0.0100365	.	.	.	2810324	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.105	0.0102701104823	0.0013	0.000998403	0.0012	0.0006	0.0022	0	0	0.0016	0.0011	0.0003	0.0010802	167	154602	rs181160538	0.0009	0.0009	0.0009	0.0010	0.0078	0.0009	0.0009	0.0060	0.0054	0.0009	0.0021	0.0106	0	1.874e-05	0.0078	0.0007	0.0022	0.0003	0.0012	0.0012	0.0012	0.0012	0.0036	0.0010	0.0010	0.0028	0.0026	0.0004	0	0.0036	0.0112	0	0	0.0306	0.0008	0.0033	0.0004	0.043	0.41364	D	0.004	0.74150	D	0.952	0.54136	P	0.42	0.45080	B	.	.	.	.	1	0.08975	N	1.1	0.28011	L	2.72	0.11947	T	-2.18	0.49187	N	0.103	0.08646	-1.0676	0.09948	T	0.038	0.16290	T	9	0.0054706335	0.00121	T	0.01027	0.26610	T	0.105	0.29889	.	.	0.241664281697	0.23763	0.5110794306933167	0.51029	0.226695250779	0.25215	0.28573769331	0.08304	T	0.033286	0.22852	T	-0.584824	0.00180	T	-0.61962	0.11214	T	0.0159022332931623	0.00375	T	0.465053	0.13602	T	0.039496146	0.05463	0.05341085	0.08989	0.039496146	0.05462	0.05341085	0.08989	-3.601	0.17871	T	.	.	0.078	0.06710	B	.	.	1.317899	0.17215	13.03	0.99028392147768396	0.50742	0.16373	0.19358	N	AEFBI	0.050674	0.08881	N	-0.512461320319969	0.21676	1.15211	-0.642215251805691	0.18413	0.9835417	0.97865038151807	0.29945	0.706548	0.73137	0	0.627178	0.54094	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.54	3.66	0.41111	0.795000	0.26632	0.199000	0.15831	-0.953000	0.02023	0.009000	0.18154	0.000000	0.08366	0.004000	0.06068	0.2025:0.7975:0.0:0.0	9.964	0.40885	814	0.42100	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.014099	0.030303	0.019022	0.017544	0.000000	0.008621	0.006098	0.000000	0.07143	467.63	52	chr14	24414693	.	C	A	467.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.656;DP=254;ExcessHet=0;FS=1.09;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.99;ReadPosRankSum=1.26;SOR=0.634	GT:AD:DP:GQ:PL	0/1:31,21:52:99:478,0,897	6	0	1	0
chr14	31383720	31383720	C	T	exonic	HEATR5A	.	nonsynonymous SNV	HEATR5A:NM_015473:exon10:c.G1397A:p.R466Q	.	430	1088	4	0	0	4	0.00183486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.0255051627752	0.0002	.	0.0002	0	0	0.0001	0	0.0004	0	6.081e-05	0.0002005	31	154602	rs200562122	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	6.699e-05	6.199e-05	5.976e-05	0.0001	0.0056	0	0	0.0003	8.096e-05	0.0004	1.16e-05	0.0002	0.0002	0.0002	0.0002	0.0001	0.0001	0.0001	6.805e-05	5.088e-05	2.417e-05	0	0	0.0040	0	0	0	0.0001	0.0010	0	0.004	0.65419	D	0.004	0.74150	D	.	.	.	.	.	.	0.000306	0.45977	D	0.145416	0.99996	0.54805	D	.	.	.	-0.58	0.71425	T	-3.67	0.70191	D	0.603	0.62103	-0.4130	0.71614	T	0.312	0.68201	T	10	0.03275937	0.01435	T	0.025505	0.48476	D	0.418	0.72780	.	.	0.347879110917	0.34393	0.625744045549294	0.62507	.	.	0.414210617542	0.27039	T	0.216475	0.57865	T	-0.159661	0.26813	T	-0.207439	0.53940	T	0.141028157155284	0.16364	T	0.908809	0.67676	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.14339	B	.	.	3.833575	0.55424	23.6	0.99926344646311405	0.99103	0.96348	0.68700	D	AEFDGBI	0.546593	0.56063	D	0.307317403500979	0.56523	3.817194	0.384269930001865	0.60594	4.248785	0.999999993314113	0.74766	0.706298	0.61202	0	0.546412	0.12157	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.62	5.62	0.85714	4.094000	0.57448	0.809000	0.21733	0.599000	0.40250	0.999000	0.42656	0.490000	0.25148	0.825000	0.38878	0.0:0.9275:0.0:0.0725	13.898	0.63288	447	0.79583	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	310.27	42	chr14	31383720	.	C	T	310.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.809;DP=212;ExcessHet=0;FS=1.505;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.39;ReadPosRankSum=2.12;SOR=0.37	GT:AD:DP:GQ:PL	0/1:28,14:42:99:320,0,668	5	0	1	1
chr14	37622197	37622197	G	T	exonic	TTC6	.	nonsynonymous SNV	TTC6:NM_001310135:exon3:c.G181T:p.A61S	.	404	1117	1	0	0	1	0.000447427	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.0191883363531	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1039877359	2.168e-06	3.42e-06	1.427e-06	2.929e-06	1.854e-06	5.8e-07	1.6e-07	3.1e-07	1.2e-07	0	0	0	0	0	0	1.854e-06	1.728e-05	0	1.317e-05	1.314e-05	0	2.697e-05	2.941e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	0.259	0.16628	T	0.127	0.35082	T	.	.	.	.	.	.	0.197196	0.03293	N	1.664870	.	.	.	.	.	.	-0.51	0.70597	T	-0.66	0.19085	N	0.073	0.04668	-0.9962	0.30974	T	0.127	0.43277	T	6	0.050727874	0.04849	T	0.019188	0.41484	T	0.097	0.27909	0.116	0.02439	0.165133752707	0.16062	.	.	0.0300148458776	0.03093	.	.	.	0.011356	0.10143	T	-0.280552	0.10609	T	-0.64077	0.09612	T	0.347872793674469	0.26935	T	0.435856	0.11948	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.13032	B	.	.	-0.229233	0.02944	0.433	0.7831841981194031	0.12249	0.06055	0.12025	N	AEFBHCI	0.093065	0.18834	N	-1.36994175447178	0.02923	0.1298262	-1.53197968679572	0.02102	0.09619549	0.999999931138832	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	4.8	-6.71	0.01597	-1.137000	0.03330	-1.471000	0.05364	-0.135000	0.12811	0.000000	0.06391	0.000000	0.08366	0.197000	0.21808	0.5111:0.2169:0.272:0.0	7.085	0.24433	682	0.59757	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	635.53	63	chr14	37622197	.	G	T	635.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.12;DP=240;ExcessHet=0;FS=3.468;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.09;ReadPosRankSum=0.347;SOR=0.775	GT:AD:DP:GQ:PL	0/1:36,27:63:99:646,0,835	6	0	1	0
chr14	41891551	41891551	G	A	exonic	LRFN5	.	nonsynonymous SNV	LRFN5:NM_001346173:exon3:c.G1687A:p.V563I,LRFN5:NM_152447:exon4:c.G1687A:p.V563I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.00523217608259	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.42e-06	3.42e-06	4.084e-06	2.75e-06	2.698e-06	1e-06	7.3e-07	7.2e-07	2e-07	0	0	0	0	1.872e-05	0	2.698e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.281	0.15458	T	0.346	0.17696	T	0.001	0.07471	B	0.004	0.10090	B	0.003993	0.34245	N	0.129837	1	0.81001	D	-0.55	0.02420	N	0.91	0.44856	T	-0.38	0.13418	N	0.064	0.03613	-1.0743	0.08493	T	0.047	0.20195	T	10	0.11105439	0.20781	T	0.005232	0.13341	T	0.071	0.20720	0.193	0.10437	0.260580752073	0.25663	0.17945353120033047	0.17864	0.346885249969	0.36588	0.554497003555	0.46490	T	0.025479	0.19042	T	-0.182266	0.23400	T	-0.499589	0.22390	T	0.551404297351837	0.34530	D	0.762524	0.38803	T	0.092864394	0.21795	0.075109445	0.16502	0.092864394	0.21795	0.075109445	0.16502	-3.82	0.21104	T	.	.	0.079	0.07318	B	.	.	3.076023	0.41366	21.3	0.86327499591242463	0.16462	0.96237	0.68167	D	AEFI	0.635723	0.61513	D	-0.525394753922222	0.21262	1.127041	-0.255780771718748	0.29572	1.657897	0.0824867274751843	0.15902	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.75	4.86	0.62624	3.835000	0.55508	8.724000	0.78169	-0.148000	0.12190	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.8476:0.1524	14.017	0.64048	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	.	.	.	.	.	.	.	.	0.07143	1632.44	121	chr14	41891551	.	G	A	1632.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.731;DP=320;ExcessHet=0;FS=0.676;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.49;ReadPosRankSum=0.812;SOR=0.597	GT:AD:DP:GQ:PL	0/1:59,62:121:99:1643,0,1460	6	0	1	0
chr14	45046651	45046651	C	T	exonic	TOGARAM1	.	nonsynonymous SNV	TOGARAM1:NM_001308120:exon14:c.C4261T:p.R1421C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.0283430041362	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs375633921	1e-05	2.189e-05	8.081e-06	1.205e-05	6.885e-05	5.33e-06	4.21e-06	1.107e-05	4.14e-06	0	6.885e-05	0	6.688e-05	2.463e-05	0	7.173e-06	2.057e-05	0	6.574e-06	6.568e-06	0	1.346e-05	.	0	0	.	.	0	0	0	0	0	9.457e-05	0	0	0	0	.	.	.	0.001	0.83351	D	0.997	0.70673	D	0.785	0.57495	P	0.000006	0.62929	U	0.000000	0.999998	0.81001	D	.	.	.	0.97	0.42502	T	-2.64	0.56630	D	0.55	0.57604	-0.6988	0.60495	T	0.201	0.55695	T	9	0.41121587	0.56238	T	0.028343	0.51038	D	0.156	0.40720	0.458	0.52427	0.446310458034	0.44255	0.44509963660167995	0.44427	.	.	.	.	.	0.117968	0.43844	T	-0.120488	0.33044	T	-0.410849	0.32128	T	0.292464503787064	0.24692	T	0.962704	0.86103	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.374	0.58066	A	.	.	4.767920	0.77149	26.6	0.99905290461412122	0.97576	0.88232	0.48068	D	AEFBI	0.362821	0.45194	N	0.437946897987913	0.63522	4.587605	0.436608227908933	0.63861	4.628578	0.00459659489796996	0.10632	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.6	4.71	0.59010	1.793000	0.38397	4.825000	0.45150	0.599000	0.40250	0.994000	0.38300	1.000000	0.68203	0.981000	0.58702	0.3334:0.6666:0.0:0.0	13.685	0.61987	805	0.43675	CLASP N-terminal domain|TOG domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	793.45	75	chr14	45046651	.	C	T	793.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.6;DP=253;ExcessHet=0;FS=0.9;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.58;ReadPosRankSum=-0.655;SOR=0.849	GT:AD:DP:GQ:PL	0/1:41,34:75:99:804,0,882	6	0	1	0
chr14	45110113	45110113	A	G	exonic	PRPF39	.	nonsynonymous SNV	PRPF39:NM_017922:exon9:c.A1196G:p.N399S	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.00600362823945	0.0018	0.000399361	0.0016	0.0004	0.0004	0	0.0005	0.0025	0.0033	0.0008	0.0016882	261	154602	rs149834781	0.0024	0.0024	0.0024	0.0024	0.0029	0.0024	0.0023	0.0028	0.0027	0.0006	0.0010	0.0014	0	0.0007	0.0009	0.0029	0.0024	0.0010	0.0015	0.0015	0.0016	0.0015	0.0026	0.0014	0.0013	0.0023	0.0022	0.0005	0	0.0009	0.0032	0	0.0004	0	0.0026	0.0005	0.0006	0.965	0.02075	T	0.676	0.06186	T	0.095	0.25437	B	0.047	0.24832	B	0.000041	0.55875	N	0.190159	0.98401	0.40089	D	-0.24	0.03895	N	1.43	0.32958	T	0.57	0.02638	N	0.092	0.07125	-1.0362	0.18481	T	0.026	0.11043	T	10	0.0088249445	0.00200	T	0.006004	0.15668	T	0.093	0.26882	.	.	0.412688821616	0.40882	0.1518460223179444	0.15106	0.370283581431	0.38553	0.665320754051	0.62170	T	0.002573	0.01964	T	-0.640708	0.00083	T	-0.689383	0.06425	T	0.0195712728448023	0.00660	T	0.890711	0.62461	D	0.037012424	0.04663	0.054097697	0.09240	0.037012424	0.04663	0.054097697	0.09240	-4.93	0.36071	T	.	.	0.078	0.06896	B	.	.	2.371917	0.30435	18.44	0.86003345019999178	0.16250	0.82941	0.42104	D	AEFBI	0.162196	0.28834	N	-0.460717575896448	0.23378	1.255007	-0.207210134210931	0.31276	1.768501	0.929209610154166	0.26959	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.53	4.39	0.52211	5.125000	0.64555	9.341000	0.80216	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.9255:0.0:0.0745:0.0	10.951	0.46540	828	0.39726	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	538.63	57	chr14	45110113	.	A	G	538.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.173;DP=227;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.45;ReadPosRankSum=1.22;SOR=0.68	GT:AD:DP:GQ:PL	0/1:32,25:57:99:549,0,770	6	0	1	0
chr14	45136202	45136202	G	C	exonic	FANCM	.	nonsynonymous SNV	FANCM:NM_001308133:exon1:c.G171C:p.L57F,FANCM:NM_001308134:exon1:c.G171C:p.L57F,FANCM:NM_020937:exon1:c.G171C:p.L57F	.	0	1516	6	0	0	6	0.00197498	.	.	.	320542	Fanconi_anemia|Spermatogenic_failure_28|Premature_ovarian_failure_15|FANCM-related_disorder|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MONDO:MONDO:0054732,MedGen:C4748117,OMIM:618086|MONDO:MONDO:0054862,MedGen:C4748170,OMIM:618096|.|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.064	0.00606018896748	0.0018	0.000399361	0.0016	0.0004	0.0004	0	0.0005	0.0025	0.0033	0.0008	0.0017076	264	154602	rs142007602	0.0024	0.0024	0.0024	0.0025	0.0029	0.0024	0.0023	0.0028	0.0028	0.0006	0.0010	0.0014	0	0.0007	0.0009	0.0029	0.0024	0.0010	0.0015	0.0015	0.0016	0.0015	0.0027	0.0014	0.0013	0.0024	0.0023	0.0005	0	0.0009	0.0032	0	0.0004	0	0.0027	0.0005	0.0006	0.048	0.40068	D	0.168	0.42976	T	0.026	0.24389	B	0.022	0.21939	B	0.032070	0.25080	N	0.294885	0.752312	0.33943	D	2.34	0.67151	M	2.58	0.13916	T	-2.48	0.54059	N	0.151	0.22486	-1.0821	0.06946	T	0.033	0.14117	T	10	0.010391653	0.00231	T	0.00606	0.15846	T	0.064	0.18567	0.465	0.53566	0.450152462452	0.44640	0.33167879403635986	0.33080	0.109337524117	0.12337	0.634920537472	0.57843	T	0.154481	0.49579	T	-0.490588	0.00645	T	-0.473747	0.25114	T	0.0620598967691673	0.07490	T	0.835416	0.50550	T	0.11937108	0.28109	0.16322358	0.37875	0.1304708	0.30441	0.21647355	0.46276	-6.105	0.48904	T	.	.	0.095	0.45061	B	.;.;.	.;.;.	2.370992	0.30420	18.43	0.99102636245465514	0.52521	0.62210	0.31713	D	ALL	0.227833	0.35159	N	-0.469880570957647	0.23071	1.236403	-0.399328345478878	0.25018	1.373323	0.99999999988759	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.519653	0.09787	0	0.372554	0.06265	0	.	.	5.1	1.07	0.19399	2.894000	0.48339	1.613000	0.27646	-0.254000	0.07082	1.000000	0.71638	0.999000	0.35428	0.940000	0.48062	0.165:0.0:0.5168:0.3182	5.135	0.14264	799	0.44747	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	1215.44	89	chr14	45136202	.	G	C	1215.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.951;DP=270;ExcessHet=0;FS=2.799;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.66;ReadPosRankSum=-0.65;SOR=0.588	GT:AD:DP:GQ:PL	0/1:41,48:89:99:1226,0,936	6	0	1	0
chr14	51725799	51725799	G	A	exonic	FRMD6	.	nonsynonymous SNV	FRMD6:NM_001267047:exon4:c.G439A:p.G147R,FRMD6:NM_001267046:exon13:c.G1513A:p.G505R,FRMD6:NM_152330:exon13:c.G1489A:p.G497R,FRMD6:NM_001042481:exon14:c.G1489A:p.G497R	.	423	1097	2	0	0	2	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	0.0236521197687	.	.	8.245e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs761646381	1.027e-05	1.026e-05	9.535e-06	1.101e-05	0.0003	6.17e-06	4.89e-06	6.094e-05	2.522e-05	0	0	0	0	0	0.0003	1.17e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.226	0.38407	T	0.024	0.57104	D	0.023	0.18885	B	0.017	0.18140	B	0.000401	0.44960	D	0.238525	0.761262	0.34041	D	0	0.06538	N	-1.07	0.76948	T	-0.52	0.29114	N	0.186	0.24260	-0.9283	0.44386	T	0.174	0.51722	T	10	0.07432562	0.11345	T	0.023652	0.46619	T	0.191	0.46948	0.296	0.26041	0.694078074994	0.69144	0.2510187880151128	0.25015	0.16921771514	0.19074	0.50617235899	0.39687	T	0.111726	0.42743	T	0.0162211	0.53870	T	-0.214476	0.53267	T	0.360750555992126	0.27438	T	0.935706	0.75920	D	0.100651205	0.23769	0.06610277	0.13493	0.100651205	0.23769	0.06610277	0.13492	-3.085	0.11125	T	.	.	0.506	0.64862	A	.;.;.;.;.	.;.;.;.;.	2.410818	0.30984	18.60	0.98877227469150408	0.47754	0.72141	0.35322	D	AEFBI	0.097829	0.19724	N	-0.463222161476648	0.23293	1.249869	-0.28694179076433	0.28527	1.591344	0.999916429662101	0.45857	0.722319	0.85440	0	0.588015	0.36545	0	0.65145	0.50148	0	0.735409	0.98432	0	.	.	5.83	2.52	0.29514	2.945000	0.48735	3.827000	0.39978	0.676000	0.76740	0.995000	0.38783	1.000000	0.68203	0.969000	0.54022	0.4696:0.0:0.5304:0.0	5.795	0.17643	764	0.49969	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	384.83	53	chr14	51725799	.	G	A	384.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.222;DP=235;ExcessHet=0;FS=3.998;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.26;ReadPosRankSum=1.54;SOR=0.883	GT:AD:DP:GQ:PL	0/1:34,19:53:99:395,0,851	6	0	1	0
chr14	56634901	56634901	-	TGATCCATCTTCTTGGGAATC	exonic	TMEM260	.	nonframeshift insertion	TMEM260:NM_017799:exon14:c.1727_1728insTGATCCATCTTCTTGGGAATC:p.S583_V584insDPSSWES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1193.45	79	chr14	56634901	.	T	TTGATCCATCTTCTTGGGAATC	1193.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.752;DP=317;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.11;ReadPosRankSum=-0.766;SOR=0.709	GT:AD:DP:GQ:PL	0/1:46,33:79:99:1204,0,1814	6	0	1	0
chr14	58465837	58465837	A	-	exonic	KIAA0586	.	frameshift deletion	KIAA0586:NM_001244193:exon12:c.1642delA:p.T548Lfs*3,KIAA0586:NM_014749:exon14:c.1834delA:p.T612Lfs*3,KIAA0586:NM_001244191:exon15:c.1807delA:p.T603Lfs*3,KIAA0586:NM_001329943:exon15:c.2062delA:p.T688Lfs*3,KIAA0586:NM_001329944:exon15:c.2062delA:p.T688Lfs*3,KIAA0586:NM_001329945:exon15:c.1807delA:p.T603Lfs*3,KIAA0586:NM_001329946:exon15:c.2062delA:p.T688Lfs*3,KIAA0586:NM_001329947:exon15:c.2062delA:p.T688Lfs*3,KIAA0586:NM_001364700:exon15:c.1807delA:p.T603Lfs*3,KIAA0586:NM_001364701:exon15:c.1807delA:p.T603Lfs*3,KIAA0586:NM_001244190:exon16:c.2017delA:p.T673Lfs*3,KIAA0586:NM_001244192:exon16:c.1930delA:p.T644Lfs*3,KIAA0586:NM_001244189:exon17:c.2221delA:p.T741Lfs*3	Joubert syndrome 23, Autosomal recessive;Short-rib thoracic dysplasia 14 with polydactyly, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	456.45	32	chr14	58465836	.	CA	C	456.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.222;DP=206;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.26;ReadPosRankSum=-2.357;SOR=0.976	GT:AD:DP:GQ:PL	0/1:18,14:32:99:467,0,631	6	0	1	0
chr14	59928307	59928307	G	A	exonic	LRRC9	.	nonsynonymous SNV	LRRC9:NM_001355272:exon3:c.G88A:p.E30K	.	440	1070	11	1	0	13	0.00603809	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00339457	0.0130	0	0.0259	0	0.0126	0.0240	0	0.0036	0.0023092	357	154602	rs145698407	0.0113	0.0098	0.0114	0.0112	0.0154	0.0111	0.0110	0.0141	0.0139	0.0019	0.0069	0.0203	0	0.0110	0.0154	0.0144	0.0118	0.0010	0.0096	0.0097	0.0099	0.0094	0.0135	0.0092	0.0091	0.0128	0.0125	0.0026	0.0286	0.0112	0.0216	0	0.0125	0.0034	0.0135	0.0118	0.0014	0.175	0.22400	T	0.326	0.30926	T	.	.	.	.	.	.	.	.	.	.	0.974766	0.25472	N	.	.	.	2.15	0.19311	T	-1.09	0.28290	N	0.345	0.38643	.	.	.	.	.	.	.	0.0069488883	0.00158	T	.	.	.	.	.	.	.	0.301122078929	0.29733	0.5692649983021691	0.56854	.	.	.	.	.	0.004528	0.03938	T	-0.575088	0.00206	T	-0.585225	0.14082	T	.	.	.	0.750125	0.37153	T	0.08694563	0.20227	0.11374232	0.27452	0.08694563	0.20226	0.11374232	0.27451	-2.649	0.06885	T	.	.	0.103	0.18497	B	.;.;.	.;.;.	2.475411	0.31911	18.88	0.99544459118472972	0.70711	0.77618	0.38184	D	AEFI	0.243605	0.36485	N	.	.	.	.	.	.	2.89881993570851E-4	0.06355	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.29	3.41	0.38145	2.770000	0.47346	3.649000	0.39371	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.768000	0.36443	0.0765:0.1403:0.7832:0.0	9.981	0.40982	506	0.75555	.;.;.	.	.	.	.	rs145698407	Uncertain significance	0	0	0	0	0	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	290.44	18	chr14	59928307	.	G	A	290.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.568;DP=198;ExcessHet=0;FS=2.251;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.14;ReadPosRankSum=-0.77;SOR=0.19	GT:AD:DP:GQ:PL	0/1:7,11:18:99:301,0,205	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	0/1:64,15:79:99:.:.:141,0,1979:.	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	0/1:62,15:79:99:.:.:156,0,1943:.	3	0	4	0
chr14	64786960	64786960	C	T	exonic	SPTB	.	nonsynonymous SNV	SPTB:NM_001024858:exon15:c.G3005A:p.R1002H,SPTB:NM_001355436:exon16:c.G3005A:p.R1002H,SPTB:NM_001355437:exon16:c.G3005A:p.R1002H	Anemia, neonatal hemolytic, fatal and near-fatal (3);Elliptocytosis-3 (3);Spherocytosis, type 2, Autosomal dominant	0	1519	3	0	0	3	0.000986518	.	.	.	2359472	Hereditary_spherocytosis_type_2|Inborn_genetic_diseases	MONDO:MONDO:0000913,MedGen:C2674219,OMIM:616649,Orphanet:822|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.255	0.063785773078	.	.	8.244e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs780815297	1.916e-05	1.984e-05	1.225e-05	2.613e-05	0.0003	1.328e-05	1.144e-05	6.092e-05	2.521e-05	0	0	3.826e-05	0	0	0.0003	1.259e-05	8.279e-05	6.956e-05	2.628e-05	3.283e-05	3.853e-05	1.345e-05	0.0001	8.14e-06	5.14e-06	2.26e-05	9.07e-06	0	0	0.0001	0	0	0	0	0	0.0010	0	0.008	0.59928	D	0.021	0.58089	D	0.466	0.36465	P	0.347	0.42698	B	0.000001	0.62929	N	0.055862	0.999958	0.52396	D	2.51	0.73131	M	0.71	0.51228	T	-3.84	0.74193	D	0.492	0.52563	-0.6599	0.62280	T	0.191	0.54301	T	10	0.52769387	0.63004	D	0.063786	0.69075	D	0.255	0.56562	0.441	0.49648	0.63568515825	0.63269	0.5151196180972656	0.51434	0.346443160718	0.36549	0.529669880867	0.42988	T	0.631572	0.88588	D	-0.14952	0.28387	T	-0.271024	0.47716	T	0.825243532657623	0.48165	D	0.939106	0.77081	D	0.3277793	0.55289	0.24986507	0.50567	0.3277793	0.55289	0.24986507	0.50566	-6.334	0.48991	T	0.7692014804704723	0.85034	0.191	0.41047	B	.;.;.;.;.	.;.;.;.;.	4.258599	0.64698	24.7	0.99883087972797924	0.95892	0.98802	0.87042	D	AEFDGBI	0.819815	0.74075	D	0.33431430606589	0.57917	3.961171	0.337305038824625	0.57746	3.94157	0.999999772358059	0.74766	0.615755	0.39536	0	0.59043	0.45803	0	0.602189	0.34648	0	0.526803	0.08958	0	.	.	4.89	4.0	0.45673	6.163000	0.71702	4.928000	0.46104	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.386000	0.26469	0.0:0.9161:0.0:0.0839	12.443	0.54975	464	0.78488	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1671.44	125	chr14	64786960	.	C	T	1671.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.5;DP=327;ExcessHet=0;FS=4.3;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.37;ReadPosRankSum=0.953;SOR=0.696	GT:AD:DP:GQ:PL	0/1:58,67:125:99:1682,0,1275	6	0	1	0
chr14	66681128	66681128	A	G	exonic	GPHN	.	nonsynonymous SNV	GPHN:NM_001024218:exon2:c.A86G:p.N29S,GPHN:NM_001377514:exon2:c.A86G:p.N29S,GPHN:NM_001377515:exon2:c.A86G:p.N29S,GPHN:NM_001377516:exon2:c.A86G:p.N29S,GPHN:NM_001377517:exon2:c.A86G:p.N29S,GPHN:NM_001377518:exon2:c.A86G:p.N29S,GPHN:NM_001377519:exon2:c.A86G:p.N29S,GPHN:NM_020806:exon2:c.A86G:p.N29S	Molybdenum cofactor deficiency C	21	1498	2	1	0	4	0.00133333	.	.	.	528323	Inborn_genetic_diseases|Sulfite_oxidase_deficiency_due_to_molybdenum_cofactor_deficiency_type_C|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014212,MedGen:C1854990,OMIM:615501,Orphanet:308400,Orphanet:833|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.353	0.0526138235332	7.7e-05	.	9.139e-05	0	0.0003	0	0	0.0001	0	6.078e-05	7.12e-05	11	154602	rs144247888	6.097e-05	6.362e-05	6.077e-05	6.116e-05	0.0006	5.024e-05	4.685e-05	0.0002	8.479e-05	3.045e-05	8.952e-05	0	2.533e-05	0	0.0006	6.109e-05	0.0002	3.496e-05	6.574e-05	6.568e-05	7.711e-05	5.383e-05	0.0001	3.518e-05	2.617e-05	6.807e-05	5.089e-05	2.414e-05	0	0	0	0	0	0	0.0001	0	0	0.184	0.43085	T	0.465	0.36365	T	0.248	0.53072	B	0.438	0.64047	B	0.000000	0.84330	D	0.000000	0.999273	0.81001	D	0.4	0.12274	N	-1.02	0.76300	T	-1.35	0.39119	N	0.793	0.80180	-0.3669	0.73056	T	0.367	0.72712	T	10	0.61218137	0.67506	D	0.052614	0.65141	D	0.353	0.67418	.	.	0.72538121087	0.72295	0.49290651260588103	0.49211	1.38065135197	0.84769	0.775062918663	0.78184	T	0.490282	0.81514	T	-0.206582	0.19863	T	-0.308815	0.43785	T	0.316590964794159	0.25683	T	0.932107	0.76420	D	0.32512578	0.55069	0.23285916	0.48458	0.32512578	0.55069	0.23285916	0.48457	-7.077	0.54595	T	0.15152657662892952	0.17883	0.166	0.54146	B	.;.;.;.	.;.;.;.	4.774765	0.77330	26.7	0.99138770012916644	0.53464	0.96558	0.69741	D	AEFBI	0.894378	0.83329	D	0.237224559343401	0.53010	3.472004	0.365614382876398	0.59453	4.123351	0.95762640559479	0.28315	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	5.11	5.11	0.69188	8.587000	0.90596	11.061000	0.85440	0.677000	0.82338	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	12.835	0.57152	510	0.75209	MoaB/Mog domain|MoaB/Mog domain|MoaB/Mog domain|MoaB/Mog domain;.;MoaB/Mog domain|MoaB/Mog domain;MoaB/Mog domain|MoaB/Mog domain|MoaB/Mog domain|MoaB/Mog domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.005051	0.004076	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	283.27	21	chr14	66681128	.	A	G	283.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.783;DP=120;ExcessHet=0;FS=7.025;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.49;ReadPosRankSum=-1.553;SOR=1.718	GT:AD:DP:GQ:PL	0/1:10,11:21:99:293,0,247	5	0	1	1
chr14	74358253	74358253	C	A	exonic	VRTN	.	nonsynonymous SNV	VRTN:NM_018228:exon2:c.C1470A:p.D490E	.	419	1038	61	4	0	69	0.0321678	.	.	.	714232	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.031	.	0.0028	0.00579073	0.0075	0.0009	0.0057	0.0001	0.0005	0.0060	0.0172	0.0245	0.0063324	979	154602	rs45500395	0.0053	0.0053	0.0045	0.0061	0.0380	0.0052	0.0052	0.0339	0.0323	0.0017	0.0054	0.0246	7.57e-05	0.0005	0.0380	0.0036	0.0069	0.0248	0.0044	0.0044	0.0040	0.0047	0.0251	0.0041	0.0040	0.0214	0.0201	0.0009	0	0.0056	0.0239	0.0002	0.0003	0.0272	0.0045	0.0095	0.0251	0.913	0.02349	T	0.46	0.12597	T	0.0	0.02946	B	0.0	0.01387	B	0.155817	0.17819	N	0.521574	1	0.08975	N	0.55	0.14455	N	1.02	0.40749	T	0.37	0.03639	N	0.017	0.00226	-0.9971	0.30728	T	0.020	0.08500	T	10	0.002757728	0.00043	T	.	.	.	0.031	0.07369	0.093	0.01151	0.043077524339	0.03247	0.20745129742837223	0.20661	0.40891498354	0.41719	0.289120614529	0.08794	T	0.010456	0.09443	T	-0.727529	0.00025	T	-0.798897	0.01930	T	0.00100007721668825	0.00010	T	0.194281	0.02108	T	0.08663903	0.20147	0.026262786	0.00706	0.08663903	0.20146	0.026262786	0.00706	-2.211	0.04094	T	.	.	0.093	0.13876	B	.	.	-2.672347	0.00021	0.001	0.21223961864604715	0.00799	0.04030	0.09467	N	AEFDBCI	0.036499	0.04872	N	-2.07478394950839	0.00145	0.00622438	-2.132926700732	0.00158	0.006943154	0.999999953199564	0.74766	0.722319	0.85440	0	0.59043	0.45803	0	0.698795	0.65105	0	0.542086	0.14980	0	.	.	3.89	-6.98	0.01454	-3.080000	0.00676	-4.396000	0.02178	-0.979000	0.01905	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2059:0.4317:0.1323:0.2301	3.018	0.05698	269	0.89438	.	.	.	.	.	.	Likely benign	0	0	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	0.035247	0.010101	0.036685	0.032164	0.050000	0.034483	0.024390	0.045455	0.07143	703.83	40	chr14	74358253	.	C	A	703.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.869;DP=209;ExcessHet=0;FS=2.906;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.6;ReadPosRankSum=-0.083;SOR=0.293	GT:AD:DP:GQ:PL	0/1:16,24:40:99:714,0,442	6	0	1	0
chr14	75071558	75071558	G	A	exonic	ZC2HC1C	.	nonsynonymous SNV	ZC2HC1C:NM_001330191:exon2:c.G985A:p.E329K,ZC2HC1C:NM_024643:exon2:c.G985A:p.E329K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	.	0.0038	0.00359425	0.0037	0.0009	0.0064	0	0.0017	0.0051	0.0011	0.0008	0.0036481	564	154602	rs117100576	0.0045	0.0045	0.0047	0.0043	0.0069	0.0044	0.0043	0.0062	0.0060	0.0007	0.0069	0.0018	2.519e-05	0.0021	0.0009	0.0051	0.0047	0.0010	0.0038	0.0038	0.0042	0.0035	0.0058	0.0036	0.0035	0.0053	0.0052	0.0013	0	0.0057	0.0017	0	0.0018	0.0034	0.0058	0.0066	0.0012	0.003	0.68238	D	0.015	0.92824	D	.	.	.	.	.	.	0.001187	0.39899	N	0.166449	0.999244	0.81001	D	1.965	0.53209	M	0.62	0.53302	T	-1.34	0.65972	N	0.511	0.69474	-1.0047	0.28547	T	0.075	0.30272	T	9	0.0050235093	0.00108	T	.	.	.	0.096	0.27654	.	.	0.112648838833	0.10856	0.3052483643247251	0.30437	0.568047790783	0.53036	0.455931127071	0.32754	T	0.021375	0.16659	T	-0.402288	0.02237	T	-0.344944	0.39784	T	0.0168530926675664	0.00438	T	0.748825	0.36981	T	0.09063727	0.21214	0.13139261	0.31552	0.09063727	0.21214	0.13139261	0.31551	-2.808	0.08257	T	.	.	0.239	0.54861	B	.;.	.;.	4.633637	0.73696	26.0	0.99866272659241162	0.94457	0.91136	0.52931	D	AEFDBI	0.372417	0.45807	N	-0.229861592401244	0.31914	1.794364	-0.187765219991681	0.31984	1.815333	0.999998078504067	0.74766	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.664235	0.64389	0	.	.	4.48	3.59	0.40253	2.747000	0.47151	9.773000	0.81562	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.549000	0.30150	0.0797:0.1444:0.7758:0.0	9.400	0.37589	476	0.77720	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.001359	0.000000	0.000000	0.008621	0.009146	0.000000	0.1429	1502.29	64	chr14	75071558	.	G	A	1502.29	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.801;DP=282;ExcessHet=0.3476;FS=4.155;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=11.13;ReadPosRankSum=1.2;SOR=0.417	GT:AD:DP:GQ:PL	0/1:32,32:64:99:820,0,891	5	0	2	0
chr14	75959291	75959291	C	T	exonic	TGFB3	.	nonsynonymous SNV	TGFB3:NM_003239:exon7:c.G1135A:p.V379M,TGFB3:NM_001329939:exon8:c.G1135A:p.V379M	Arrhythmogenic right ventricular dysplasia 1, Autosomal dominant;Loeys-Dietz syndrome 5, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	996010	Rienhoff_syndrome|TGFB3-related_disorder|not_provided|Familial_thoracic_aortic_aneurysm_and_aortic_dissection	MONDO:MONDO:0014262,MedGen:C3810012,OMIM:615582|.|MedGen:C3661900|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.762	0.514348588741	.	.	8.237e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs757031677	7.525e-06	7.524e-06	9.528e-06	5.5e-06	0.0001	4.04e-06	2.95e-06	3.348e-05	1.981e-05	2.987e-05	0	0	0.0001	0	0	4.496e-06	1.656e-05	0	2.631e-05	2.627e-05	2.571e-05	2.693e-05	9.662e-05	8.15e-06	5.14e-06	3.252e-05	1.916e-05	9.662e-05	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.84	0.95699	H	-0.7	0.72785	T	-2.7	0.57599	D	0.684	0.69037	0.697	0.93142	D	0.699	0.89620	D	10	0.8758652	0.86876	D	0.514349	0.95350	D	0.762	0.91920	.	.	0.819143354546	0.81743	0.8033605620653225	0.80290	1.60380208302	0.88742	0.902795553207	0.96743	D	0.967488	0.99621	D	0.0776919	0.61769	D	0.138251	0.79432	D	0.991864085197449	0.82224	D	0.985401	0.94968	D	0.9470301	0.95964	0.84211594	0.90978	0.9470301	0.95964	0.84211594	0.90979	-9.591	0.71424	D	0.7502258630070471	0.83231	0.858	0.80188	P	.	.	5.144299	0.86141	28.8	0.99909040613055844	0.97875	0.97973	0.78548	D	AEFBI	0.856190	0.77339	D	1.03999290879378	0.96848	15.22697	0.944593370149887	0.97240	15.804	0.999999999994441	0.74766	0.632932	0.41330	0	0.596877	0.49441	0	0.601832	0.32385	0	0.635551	0.53088	0	.	.	5.36	5.36	0.76624	7.905000	0.86479	7.723000	0.67399	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	19.094	0.93223	894	0.26265	Transforming growth factor-beta, C-terminal|Transforming growth factor-beta, C-terminal|Transforming growth factor-beta, 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	.	.	.	.	.	.	.	.	0.07143	632.49	60	chr14	75959291	.	C	T	632.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.905;DP=227;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.54;ReadPosRankSum=-0.059;SOR=0.609	GT:AD:DP:GQ:PL	0/1:32,28:60:99:643,0,682	6	0	1	0
chr14	94129289	94129289	G	A	exonic	IFI27L2	.	nonsynonymous SNV	IFI27L2:NM_032036:exon2:c.C10T:p.R4W	.	386	1133	2	1	0	4	0.00176211	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.00351984217628	.	0.000199681	1.714e-05	0	0	0	0	1.55e-05	0	6.439e-05	1.94e-05	3	154602	rs577127970	2.069e-06	2.052e-06	1.372e-06	2.774e-06	1.811e-06	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.811e-06	1.678e-05	0	6.645e-06	6.605e-06	1.299e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.009	0.57480	D	0.011	0.64786	D	0.0	0.02946	B	0.0	0.01387	B	0.039559	0.01865	U	4.062350	1	0.24182	N	1.905	0.50856	L	1.38	0.34050	T	-2.58	0.55662	D	0.296	0.33469	-1.0080	0.27541	T	0.084	0.32729	T	10	0.05189851	0.05142	T	0.00352	0.08000	T	0.037	0.09474	0.353	0.35246	0.126345400529	0.12197	0.6222816218962532	0.62161	0.0556908895108	0.06161	0.610887467861	0.54441	T	0.078217	0.35839	T	-0.248335	0.14304	T	-0.493863	0.22986	T	0.241293698549271	0.22479	T	0.541546	0.18382	T	0.15800531	0.35571	0.09203345	0.21669	0.15800531	0.35570	0.09203345	0.21669	-5.961	0.45952	T	.	.	0.217	0.44643	B	.	.	2.042433	0.25964	16.95	0.86888539370341356	0.16841	0.02647	0.07252	N	ALL	0.107697	0.21448	N	-1.10787947419813	0.06502	0.2994921	-1.22246444045514	0.05550	0.2647823	0.999999981220478	0.74766	0.72623	0.87236	0	0.484254	0.07192	0	0.594344	0.31042	0	0.56214	0.19341	0	.	.	1.65	0.744	0.17503	-0.301000	0.08269	-1.560000	0.05170	0.656000	0.54149	0.001000	0.13787	0.000000	0.08366	0.010000	0.09038	0.2231:0.0:0.7769:0.0	4.010	0.09108	433	0.80627	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	322.46	35	chr14	94129289	.	G	A	322.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.64;DP=210;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.21;ReadPosRankSum=1.06;SOR=0.871	GT:AD:DP:GQ:PL	0/1:21,14:35:99:333,0,474	6	0	1	0
chr14	94379513	94379513	C	T	exonic	SERPINA1	.	nonsynonymous SNV	SERPINA1:NM_000295:exon4:c.G1016A:p.G339E,SERPINA1:NM_001002235:exon4:c.G1016A:p.G339E,SERPINA1:NM_001127700:exon4:c.G1016A:p.G339E,SERPINA1:NM_001127702:exon5:c.G1016A:p.G339E,SERPINA1:NM_001127706:exon5:c.G1016A:p.G339E,SERPINA1:NM_001127707:exon5:c.G1016A:p.G339E,SERPINA1:NM_001002236:exon6:c.G1016A:p.G339E,SERPINA1:NM_001127701:exon6:c.G1016A:p.G339E,SERPINA1:NM_001127703:exon6:c.G1016A:p.G339E,SERPINA1:NM_001127704:exon6:c.G1016A:p.G339E,SERPINA1:NM_001127705:exon6:c.G1016A:p.G339E	Emphysema due to AAT deficiency, Autosomal recessive;Emphysema-cirrhosis, due to AAT deficiency, Autosomal recessive;Hemorrhagic diathesis due to antithrombin Pittsburgh, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	0.015284713241	.	.	.	.	.	.	.	.	.	.	0.0252805	658	26028	rs186298255	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	7.405e-05	0.0081	2.626e-05	0.0001	0.0002	4.066e-05	3.196e-05	5.533e-05	2.903e-05	2.445e-05	0	0.0002	0	0.0002	0.0004	0	1.502e-05	0.0005	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.07471	B	0.004	0.10090	B	0.201876	0.03325	N	1.632050	1	0.08975	N	-0.055	0.04927	N	-1.63	0.82440	D	1.6	0.00652	N	0.084	0.06059	-0.7416	0.58370	T	0.175	0.51816	T	10	0.06385669	0.08383	T	0.015285	0.35936	T	0.152	0.39956	0.358	0.36060	0.708489977135	0.70594	0.28805864301383166	0.28718	0.0536714916649	0.05925	0.246817171574	0.03440	T	0.12283	0.44678	T	-0.214714	0.18721	T	-0.546198	0.17693	T	0.0226976832768117	0.00987	T	0.0435956	0.00682	T	0.099375755	0.23451	0.08960794	0.20963	0.099375755	0.23451	0.08960794	0.20963	-2.39	0.25083	T	0.10573163998153827	0.08417	0.074	0.11510	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	-1.212546	0.00518	0.012	0.47182625122801897	0.03837	0.02891	0.07678	N	AEFDBHCI	0.440912	0.49928	N	-1.78089906355498	0.00593	0.025575	-1.76931647493546	0.00863	0.03855153	0.99999997204157	0.74766	0.553676	0.25195	0	0.610034	0.51514	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.38	-8.5	0.00808	-2.165000	0.01360	-20.000000	0.00162	-0.176000	0.10722	0.000000	0.06391	0.000000	0.08366	0.320000	0.24970	0.0:0.1294:0.2015:0.6691	10.136	0.41880	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;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	55.97	66	chr14	94379513	.	C	T	55.97	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.26;DP=411;ExcessHet=0.4139;FS=7.708;MLEAC=2;MLEAF=0.167;MQ=59.87;MQRankSum=0;QD=0.26;ReadPosRankSum=1.78;SOR=0.99	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:61,5:66:26:0|1:94379487_CCT_C:26,0,2546:94379487	4	0	2	1
chr14	95466044	95466044	G	A	exonic	SYNE3	.	nonsynonymous SNV	SYNE3:NM_001363692:exon4:c.C514T:p.R172W,SYNE3:NM_001384281:exon4:c.C514T:p.R172W,SYNE3:NM_001384282:exon4:c.C514T:p.R172W,SYNE3:NM_001384284:exon4:c.C514T:p.R172W,SYNE3:NM_152592:exon4:c.C514T:p.R172W,SYNE3:NM_001384283:exon5:c.C538T:p.R180W	.	.	.	.	.	.	.	.	.	.	.	3478253	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.213	0.0882536398162	7.7e-05	.	5.776e-05	9.617e-05	8.64e-05	0	0	4.5e-05	0	0.0001	5.17e-05	8	154602	rs376081330	2.328e-05	2.326e-05	1.498e-05	3.167e-05	0.0002	1.676e-05	1.479e-05	3.766e-05	2.662e-05	0	6.711e-05	0	2.522e-05	0	0.0002	1.89e-05	1.657e-05	8.117e-05	2.629e-05	2.627e-05	3.854e-05	1.346e-05	0.0001	8.14e-06	5.14e-06	2.261e-05	9.07e-06	2.414e-05	0	0.0001	0	0	0	0	1.47e-05	0	0	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.984	0.76113	D	0.003344	0.35069	N	0.000000	0.999089	0.46032	D	2.455	0.71248	M	1.31	0.35405	T	-5.91	0.89684	D	0.755	0.76296	-0.8661	0.50820	T	0.177	0.52272	T	10	0.6610868	0.70158	D	0.088254	0.75096	D	0.213	0.50496	.	.	0.611542178662	0.60841	0.4566513724639848	0.45583	0.549970519472	0.51874	0.633121073246	0.57588	T	0.337571	0.70694	T	-0.144953	0.29104	T	-0.243337	0.50472	T	0.651205599308014	0.38514	D	0.937806	0.76632	D	0.422073	0.62229	0.39678845	0.64311	0.422073	0.62230	0.39678845	0.64311	-8.81	0.69626	D	.	.	0.259	0.51297	B	.;.;.	.;.;.	4.870944	0.79790	27.2	0.99899766350778174	0.97199	0.79815	0.39626	D	AEFBI	0.637931	0.61653	D	0.285258575261791	0.55399	3.704158	0.190146164248038	0.49306	3.135375	0.992496789666824	0.32860	0.67177	0.52595	0	0.702456	0.74545	0	0.547309	0.15389	0	0.635551	0.53088	0	.	.	4.12	1.66	0.23081	1.850000	0.38968	5.659000	0.49211	0.601000	0.45875	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.4098:0.5902	11.610	0.50309	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	599.53	45	chr14	95466044	.	G	A	599.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.62;DP=221;ExcessHet=0;FS=1.154;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.32;ReadPosRankSum=-0.466;SOR=0.483	GT:AD:DP:GQ:PL	0/1:23,22:45:99:610,0,570	6	0	1	0
chr14	96264253	96264253	C	G	exonic	BDKRB1	.	nonsynonymous SNV	BDKRB1:NM_000710:exon3:c.C571G:p.L191V	.	415	1105	2	0	0	2	0.000904159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.170	0.0370978439039	0.0029	0.00179712	0.0024	0.0005	0.0028	0	0.0024	0.0036	0.0022	0	0.0023932	370	154602	rs143823168	0.0028	0.0028	0.0029	0.0027	0.0032	0.0027	0.0027	0.0031	0.0031	0.0005	0.0022	0.0020	0	0.0026	0.0003	0.0032	0.0033	2.319e-05	0.0019	0.0019	0.0020	0.0019	0.0030	0.0018	0.0017	0.0025	0.0023	0.0005	0	0.0030	0.0026	0	0.0022	0	0.0028	0.0033	0	0.005	0.63226	D	0.082	0.41573	T	0.999	0.77913	D	0.986	0.76916	D	0.000588	0.43095	U	0.094118	0.999996	0.08975	N	1.77	0.45869	L	1.16	0.38073	T	-1.79	0.43524	N	0.449	0.48872	-1.0104	0.26791	T	0.120	0.41993	T	10	0.0067479014	0.00153	T	0.037098	0.57405	D	0.170	0.43303	.	.	0.581120218722	0.57782	0.45269421062681536	0.45187	0.403603670912	0.41292	0.370061576366	0.20841	T	0.166886	0.51329	T	-0.444656	0.01214	T	-0.414545	0.31703	T	0.0370417964876169	0.03163	T	0.645335	0.25688	T	0.41492498	0.61752	0.30642885	0.56668	0.41492498	0.61752	0.30642885	0.56667	-8.21	0.62492	D	.	.	0.321	0.56038	B	.;.;.	.;.;.	2.189119	0.27911	17.62	0.99233529003978449	0.56310	0.22296	0.21698	N	AEFGBCI	.	.	.	-0.199949076929356	0.33136	1.876577	-0.346448827929337	0.26620	1.471507	0.999997051635862	0.74766	0.533608	0.22052	0	0.610034	0.51514	0	0.685742	0.62368	0	0.613276	0.41899	0	.	.	4.95	3.13	0.35090	-0.021000	0.12445	0.106000	0.14715	-0.172000	0.11096	0.001000	0.13787	0.141000	0.23092	0.026000	0.12556	0.0:0.7366:0.0:0.2634	8.757	0.33810	976	0.04745	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.005051	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	852.53	72	chr14	96264253	.	C	G	852.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.604;DP=307;ExcessHet=0;FS=1.958;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.84;ReadPosRankSum=0.999;SOR=0.652	GT:AD:DP:GQ:PL	0/1:38,34:72:99:863,0,985	6	0	1	0
chr14	99645357	99645357	G	C	exonic	HHIPL1	.	nonsynonymous SNV	HHIPL1:NM_001127258:exon1:c.G150C:p.E50D,HHIPL1:NM_032425:exon1:c.G150C:p.E50D	.	430	1091	1	0	0	1	0.000458085	.	.	.	4142986	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.015	0.0180402161438	.	.	.	.	.	.	.	.	.	.	.	.	.	rs751957573	4.319e-05	4.241e-05	4.257e-05	4.383e-05	0.0003	3.411e-05	3.065e-05	3.894e-05	3.525e-05	0	0	0	0	0	0.0003	5.015e-05	1.876e-05	2.9e-05	3.291e-05	3.284e-05	5.147e-05	1.347e-05	0.0001	1.262e-05	7.99e-06	2.265e-05	9.09e-06	0	0	0.0001	0	0	0	0	4.416e-05	0	0	0.627	0.05198	T	0.62	0.07444	T	0.022	0.20130	B	0.109	0.31370	B	0.846308	0.08996	U	0.911255	1	0.08975	N	-0.55	0.02420	N	1.55	0.29866	T	-1.13	0.29114	N	0.107	0.11483	-0.9799	0.35025	T	0.033	0.14290	T	10	0.028911144	0.01020	T	0.01804	0.39967	T	0.015	0.02232	0.294	0.25720	0.0716867268079	0.06686	0.2886313665661262	0.28776	0.483244084845	0.47279	0.846618294716	0.89103	D	0.012047	0.10654	T	-0.504369	0.00540	T	-0.736566	0.04036	T	0.0556978442275706	0.06474	T	0.89481	0.63428	D	0.04008577	0.05657	0.052567743	0.08686	0.04008577	0.05657	0.052567743	0.08685	-6.458	0.51357	T	.	.	0.126	0.31431	B	.;.	.;.	-0.795677	0.01115	0.051	0.41603177421169818	0.03012	0.00991	0.03763	N	AEFDBHIJ	0.040462	0.06023	N	-2.50883255185555	0.00015	0.0006584841	-2.59182970785638	0.00014	0.000626612	1.0	0.98316	0.455138	0.09556	0	0.59043	0.45803	0	0.503968	0.08637	0	0.56751	0.32155	0	.	.	4.25	-8.49	0.00812	-2.660000	0.00924	-6.542000	0.01370	-1.872000	0.00551	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0646:0.1357:0.6386:0.1611	11.246	0.48227	906	0.23090	Folate receptor-like;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	77.63	13	chr14	99645357	.	G	C	77.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.023;DP=161;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.97;ReadPosRankSum=-1.691;SOR=1.329	GT:AD:DP:GQ:PL	0/1:9,4:13:88:88,0,230	6	0	1	0
chr14	104707715	104707715	C	T	exonic	INF2	.	nonsynonymous SNV	INF2:NM_001031714:exon8:c.C1448T:p.S483F,INF2:NM_022489:exon8:c.C1448T:p.S483F	Charcot-Marie-Tooth disease, dominant intermediate E, Autosomal dominant;Glomerulosclerosis, focal segmental, 5	.	.	.	.	.	.	.	.	.	.	505344	INF2-related_disorder|Focal_segmental_glomerulosclerosis_5|Charcot-Marie-Tooth_disease_dominant_intermediate_E|not_provided	.|MONDO:MONDO:0013191,MedGen:C2750475,OMIM:613237,Orphanet:656|MONDO:MONDO:0013758,MedGen:C4302667,OMIM:614455,Orphanet:93114|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.107	0.398930579461	.	.	0.0002	0	0	0	0	0.0003	0	0.0002	1.29e-05	2	154602	rs753188664	0.0001	0.0001	0.0001	0.0001	0.0036	0.0001	0.0001	0.0021	0.0017	3.794e-05	0.0009	0	8.812e-05	0	0.0036	8.195e-05	0.0003	0.0001	0.0001	0.0001	0.0001	0.0001	0.0005	8.215e-05	6.807e-05	8.356e-05	3.487e-05	8.075e-05	0	0.0002	0	0	0	0.0154	4.689e-05	0.0015	0.0005	0.039	0.43393	D	0.128	0.34959	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.895	0.01383	N	-1.37	0.80301	T	-0.16	0.09460	N	0.148	0.15046	-0.9093	0.46940	T	0.237	0.60379	T	9	0.020722717	0.00482	T	0.398931	0.93354	D	0.107	0.30369	.	.	0.102598925029	0.09809	0.03958585762132977	0.03904	0.270303575424	0.29553	0.640102207661	0.58579	T	0.023666	0.18025	T	-0.472327	0.00822	T	-0.501682	0.22173	T	0.00459116373822256	0.00049	T	0.435556	0.11926	T	0.03905909	0.05321	0.047990028	0.07034	0.044147555	0.07007	0.04406177	0.05623	-4.208	0.27768	T	0.1483932970694452	0.17273	0.094	0.14979	B	.;.	.;.	0.679840	0.10482	7.199	0.93778540709419633	0.23735	0.00605	0.02694	N	AEFDBCI	0.032790	0.03771	N	-1.3528552649815	0.03095	0.137735	-1.43255250960402	0.02932	0.1358124	0.999972096036013	0.50053	0.660377	0.49826	0	0.550933	0.16991	0	0.723109	0.80598	0	0.592323	0.36904	0	.	.	3.18	-2.61	0.05811	-0.752000	0.04902	-0.850000	0.07182	-0.367000	0.05470	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2715:0.1569:0.5717	5.152	0.14341	957	0.09725	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012270	0.007353	0.023585	0.010714	0.000000	0.040541	0.000000	0.005556	0.07143	289.93	12	chr14	104707715	.	C	T	289.93	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.014;DP=85;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=24.16;ReadPosRankSum=1.45;SOR=0.495	GT:AD:DP:GQ:PL	0/1:1,11:12:5:300,0,5	6	0	1	0
chr14	104953797	104953797	C	T	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G1354A:p.D452N,AHNAK2:NM_138420:exon7:c.G1654A:p.D552N	.	411	1040	68	3	0	74	0.0343547	.	.	.	2807606	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.019	.	0.0069	0.00798722	0.0082	0.0015	0.0071	0	0.0005	0.0101	0.0111	0.0130	0.0078718	1217	154602	rs45448397	0.0073	0.0073	0.0069	0.0077	0.0406	0.0072	0.0071	0.0363	0.0347	0.0022	0.0066	0.0321	7.557e-05	0.0007	0.0406	0.0066	0.0105	0.0137	0.0067	0.0067	0.0067	0.0066	0.0110	0.0063	0.0062	0.0097	0.0092	0.0018	0	0.0110	0.0343	0.0006	0.0006	0.0306	0.0083	0.0114	0.0104	0.842	0.02796	T	0.408	0.14633	T	0.021	0.18474	B	0.032	0.22131	B	.	.	.	.	1	0.08975	N	0	0.06538	N	4.03	0.03149	T	-0.08	0.08187	N	0.1	0.08227	-0.9097	0.46891	T	0.003	0.00832	T	9	0.0041176975	0.00081	T	.	.	.	0.019	0.03383	.	.	0.0297737177859	0.01360	0.0316760095331914	0.03116	.	.	0.185123771429	0.00150	T	0.022655	0.17431	T	-0.727118	0.00025	T	-0.8062	0.01752	T	0.00461407943591834	0.00049	T	0.309269	0.05988	T	0.016435066	0.00197	0.024356974	0.00454	0.016435066	0.00197	0.024356974	0.00454	-4.588	0.32020	T	.	.	0.109	0.20934	B	.	.	-0.342790	0.02437	0.277	0.97984752298087319	0.37356	0.08243	0.14197	N	AEFDBI	0.071796	0.14307	N	-1.45363581998287	0.02188	0.09635179	-1.48412917277304	0.02474	0.1138519	0.07631154992444	0.15723	0.706548	0.73137	0	0.588015	0.36545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.96	-3.51	0.04397	-1.192000	0.03161	-2.796000	0.03352	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.105:0.2143:0.4064:0.2743	3.143	0.06076	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.031219	0.000000	0.031250	0.058480	0.150000	0.060345	0.021341	0.026515	0.1429	1820.24	159	chr14	104953797	.	C	T	1820.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.66;DP=663;ExcessHet=0.3476;FS=1.936;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=10.71;ReadPosRankSum=0.389;SOR=0.872	GT:AD:DP:GQ:PL	0/1:91,68:159:99:1750,0,2260	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	1/1:0,27:27:81:881,81,0	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|1:5,2:7:68:0|1:22768260_GCATCTGCTCCTCCTCCTCCCCCATCTGCTCCTCCTGATTCCT_G:68,0,161:22768260	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|1:5,2:7:68:0|1:22768260_GCATCTGCTCCTCCTCCTCCCCCATCTGCTCCTCCTGATTCCT_G:68,0,161:22768260	3	0	2	2
chr15	22768342	22768383	CCGCATCTGCTCCTCCTGCTCCCACATCTGCTCCTCCTGCTC	-	exonic	GOLGA6L7	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0005	0.0003	0.0002	0.0007	0.0002	0.0001	0.0001	0.0001	0.0001	0	0.0002	0.0007	0.0005	0.0003	0	0.0003	0	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	59.96	6	chr15	22768341	.	TCCGCATCTGCTCCTCCTGCTCCCACATCTGCTCCTCCTGCTC	T	59.96	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.28;DP=24;ExcessHet=0;FS=3.31;MLEAC=1;MLEAF=0.083;MQ=59.35;MQRankSum=-0.967;QD=9.99;ReadPosRankSum=-1.282;SOR=2.303	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:4,2:6:69:0|1:22768260_GCATCTGCTCCTCCTCCTCCCCCATCTGCTCCTCCTGATTCCT_G:69,0,162:22768260	5	0	1	1
chr15	23039414	23039414	C	T	exonic	TUBGCP5	.	nonsynonymous SNV	TUBGCP5:NM_001102610:exon1:c.G130A:p.A44T,TUBGCP5:NM_001354372:exon1:c.G130A:p.A44T,TUBGCP5:NM_001354373:exon1:c.G130A:p.A44T,TUBGCP5:NM_001354374:exon1:c.G130A:p.A44T,TUBGCP5:NM_001354375:exon1:c.G130A:p.A44T,TUBGCP5:NM_001354376:exon1:c.G130A:p.A44T,TUBGCP5:NM_001354377:exon1:c.G130A:p.A44T,TUBGCP5:NM_001354378:exon1:c.G130A:p.A44T,TUBGCP5:NM_052903:exon1:c.G130A:p.A44T	.	418	1097	7	0	0	7	0.00318037	.	.	.	725921	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.060	0.022237899635	.	.	.	.	.	.	.	.	.	.	.	.	.	rs150671482	0.0032	0.0031	0.0031	0.0032	0.0045	0.0031	0.0031	0.0041	0.0040	0.0005	0.0025	0.0051	0	0.0007	0.0033	0.0033	0.0033	0.0045	0.0020	0.0020	0.0024	0.0016	0.0046	0.0019	0.0018	0.0031	0.0026	0.0003	0	0.0027	0.0040	0	0.0003	0.0103	0.0030	0.0057	0.0046	.	.	.	0.08	0.42086	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.227	0.31253	.	.	.	.	.	.	.	0.07992759	0.12914	T	.	.	.	.	.	.	.	.	.	0.812660692479773	0.81222	.	.	.	.	.	0.05588	0.30132	T	.	.	.	.	.	.	.	.	.	0.836416	0.50788	T	.	.	.	.	.	.	.	.	-3.603	0.18597	T	.	.	0.099	0.23605	B	.;.	.;.	3.409128	0.47284	22.4	.	.	.	.	.	.	0.345561	0.44067	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.315000	0.51661	2.882000	0.35335	0.596000	0.33519	1.000000	0.71638	0.999000	0.35428	0.955000	0.50612	.	.	.	906	0.23090	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.07143	446.46	48	chr15	23039414	.	C	T	446.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.588;DP=233;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.3;ReadPosRankSum=-0.77;SOR=0.536	GT:AD:DP:GQ:PL	0/1:29,19:48:99:457,0,756	6	0	1	0
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	1|0:0,19:50:99:1|0:23361378_GGAGCAGCAGGAGAGGCTTCCA_G:1613,889,1203:23361378	2	0	5	0
chr15	23440328	23440328	C	0	exonic	GOLGA6L2	.	.	.	.	950	317	163	50	42	305	0.2932	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375	43.73	36	chr15	23440328	.	C	*	43.73	.	AC=3;AF=0.375;AN=8;BaseQRankSum=-0.126;DP=394;ExcessHet=4.1913;FS=16.583;MLEAC=4;MLEAF=0.5;MQ=54.16;MQRankSum=0.126;QD=0.32;ReadPosRankSum=0;SOR=3.018	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:32,4:36:72:0|1:23440319_CT_C:72,0,1179:23440319	1	0	3	3
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	1/0:0,55:113:99:4145,1993,2340	0	0	6	1
chr15	28179189	28179189	G	C	exonic	HERC2	.	nonsynonymous SNV	HERC2:NM_004667:exon58:c.C8972G:p.A2991G	Mental retardation, autosomal recessive 38, Autosomal recessive	421	1098	3	0	0	3	0.00136426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.440	0.0391253060199	.	.	.	.	.	.	.	.	.	.	.	.	.	rs928739534	4.108e-06	4.104e-06	1.362e-06	6.882e-06	0.0005	1.48e-06	9.7e-07	0.0001	7.568e-05	0	0	0	0	0	0.0005	2.699e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.127	0.27080	T	.	.	.	0.997	0.70673	D	0.91	0.64641	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.495	0.37439	L	-1.16	0.78082	T	-1.92	0.44657	N	0.364	0.40565	-0.0751	0.80662	T	0.573	0.84554	D	10	0.41455904	0.56453	T	0.039125	0.58629	D	0.440	0.74377	0.388	0.40951	0.590594912999	0.58735	0.5159273168106074	0.51515	1.61186839032	0.88922	0.873898506165	0.93121	D	0.211812	0.57268	T	0.17405	0.71494	D	0.0122342	0.71127	D	0.867840945720673	0.51783	D	0.943406	0.78638	D	0.20075767	0.42062	0.29866976	0.55901	0.20075767	0.42062	0.29866976	0.55900	-7.148	0.55107	T	0.19613427463315355	0.25897	0.099	0.16626	B	.	.	3.816669	0.55084	23.6	0.99781298823627762	0.86780	0.99395	0.95476	D	AEFBI	0.898399	0.84163	D	0.757005877373284	0.83362	7.99726	0.7737786971548	0.87919	9.39111	0.999999999999366	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.76	5.76	0.90726	8.039000	0.89191	8.676000	0.78026	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.941000	0.48210	0.0:0.0:1.0:0.0	19.960	0.97247	923	0.18507	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.07143	222.45	30	chr15	28179189	.	G	C	222.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.308;DP=182;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.41;ReadPosRankSum=1.81;SOR=0.892	GT:AD:DP:GQ:PL	0/1:19,11:30:99:233,0,484	6	0	1	0
chr15	31327345	31327345	A	G	exonic	KLF13	.	nonsynonymous SNV	KLF13:NM_001302461:exon1:c.A133G:p.T45A,KLF13:NM_015995:exon1:c.A133G:p.T45A	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.0110681774999	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1057070402	4.471e-06	6.84e-06	0	9.231e-06	0.0007	1.31e-06	9.5e-07	0.0001	5.01e-05	0	0	0	0	0	0.0007	3.185e-06	0	0	6.717e-06	6.6e-06	0	1.377e-05	1.492e-05	0	0	.	.	0	0	0	0	0	0	0	1.492e-05	0	0	0.757	0.03512	T	0.739	0.05000	T	0.0	0.02946	B	0.0	0.01387	B	0.151081	0.17966	U	0.522274	1	0.08975	N	-1.04	0.01097	N	2.85	0.10578	T	0.07	0.06138	N	0.039	0.01274	-0.9422	0.42266	T	0.012	0.04463	T	10	0.04428163	0.03367	T	0.011068	0.28311	T	0.030	0.07022	0.203	0.11797	0.151262610727	0.14761	0.15975284077850083	0.15896	1.22684531646	0.81226	0.786715269089	0.79942	T	0.062382	0.31901	T	-0.377128	0.03248	T	-0.779495	0.02468	T	0.0322914190007349	0.02354	T	.	.	.	0.06837938	0.14892	0.03464532	0.02569	0.06837938	0.14892	0.03464532	0.02568	-2.206	0.04069	T	.	.	0.087	0.11027	B	.	.	1.172292	0.15621	11.98	0.73658308391585725	0.10408	0.01070	0.03963	N	ALL	0.029030	0.02668	N	-1.0462033368285	0.07662	0.3566977	-1.02677355937093	0.09198	0.4563049	0.999999999958479	0.74766	0.65757	0.49021	0	0.52208	0.09955	0	0.619478	0.44681	0	0.492483	0.08430	1	.	.	2.1	0.806	0.17851	0.833000	0.27157	0.397000	0.17956	0.531000	0.24825	0.035000	0.20724	0.001000	0.17328	0.941000	0.48210	0.4114:0.4012:0.1874:0.0	3.571	0.07468	782	0.47442	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	52.27	7	chr15	31327345	.	A	G	52.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.792;DP=114;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.47;ReadPosRankSum=0.697;SOR=1.179	GT:AD:DP:GQ:PL	0/1:4,3:7:62:62,0,78	5	0	1	1
chr15	33066576	33066576	A	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.T1309C:p.S437P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.0439174776103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.269e-06	0.0003	8.328e-06	4.195e-06	3.048e-05	2.95e-06	2.14e-06	3.16e-06	2.28e-06	3.048e-05	0	0	0	0	0	7.335e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.149	0.63918	T	0.999	0.90584	D	0.961	0.73157	D	0.013889	0.28700	N	0.367334	.	.	.	.	.	.	0.86	0.52416	T	-1.05	0.30140	N	0.667	0.67564	-0.3122	0.74643	T	0.279	0.65058	T	8	0.56316704	0.64902	D	0.043917	0.61227	D	0.118	0.32913	0.237	0.16760	0.692833615445	0.69019	.	.	0.0243119155432	0.02469	.	.	.	.	.	.	0.065645	0.60314	T	-0.143482	0.59815	T	0.97686767578125	0.71575	D	.	.	.	.	.	.	.	.	.	.	.	-11.775	0.83737	D	.	.	0.768	0.82694	P	.;.	.;.	1.889637	0.24000	16.23	0.99337903151617613	0.60051	0.70445	0.34593	D	AEFBCI	0.339556	0.43666	N	0.607978743589503	0.73679	6.005621	0.621611519535191	0.76513	6.504682	0.999997974355125	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	5.96	0.96695	2.674000	0.46532	7.052000	0.57375	0.756000	0.94297	0.994000	0.38300	1.000000	0.68203	0.859000	0.40722	0.8664:0.0:0.0:0.1336	11.519	0.49792	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	1421.39	77	chr15	33066576	.	A	G	1421.39	.	AC=4;AF=0.333;AN=12;BaseQRankSum=1.25;DP=407;ExcessHet=3.1439;FS=230.13;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=4.47;ReadPosRankSum=1.48;SOR=6.9	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:58,18:77:99:.:.:335,0,1976:.	2	0	4	1
chr15	33066577	33066577	C	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.G1308C:p.E436D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.0297600126912	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.862e-07	0.0001	0	1.379e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.662e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.31834	T	0.298	0.32355	T	0.859	0.61523	P	0.569	0.58136	P	0.000805	0.41658	D	0.269242	.	.	.	.	.	.	0.34	0.59717	T	-1.06	0.27669	N	0.523	0.55280	-0.6555	0.62473	T	0.195	0.54913	T	8	0.3596483	0.52628	T	0.02976	0.52206	D	0.121	0.33580	0.179	0.08626	0.723881056707	0.72144	.	.	0.0215900956345	0.02143	.	.	.	.	.	.	-0.156676	0.27274	T	-0.46283	0.26291	T	0.960661649703979	0.65867	D	.	.	.	.	.	.	.	.	.	.	.	-8.241	0.62700	D	.	.	0.231	0.54353	B	.;.	.;.	0.926501	0.13016	9.521	0.9948329941711106	0.67014	0.72494	0.35481	D	AEFBCI	0.313711	0.41879	N	0.240855582260182	0.53189	3.48888	0.245955025105221	0.52420	3.416909	0.999871332870031	0.44625	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	3.06	0.34374	0.207000	0.17194	0.009000	0.13411	0.599000	0.40250	0.983000	0.35670	0.800000	0.26941	0.903000	0.43903	0.1331:0.5968:0.0:0.2702	5.341	0.15286	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	791.31	77	chr15	33066577	.	C	G	791.31	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-0.61;DP=397;ExcessHet=3.1439;FS=238.759;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=2.58;ReadPosRankSum=1.41;SOR=8.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:59,18:77:99:0|1:33066574_C_T:334,0,2017:33066574	2	0	4	1
chr15	39588622	39588622	C	T	exonic	THBS1	.	nonsynonymous SNV	THBS1:NM_003246:exon10:c.C1568T:p.T523I	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.00971750780854	.	.	1.703e-05	9.707e-05	0	0	0	1.522e-05	0	0	1.29e-05	2	154602	rs748012239	1.37e-06	1.368e-06	1.363e-06	1.378e-06	1.8e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.8e-06	0	0	1.314e-05	1.313e-05	2.569e-05	0	4.827e-05	2.18e-06	8.2e-07	8e-06	2.99e-06	4.827e-05	0	0	0	0	0	0	0	0	0	0.093	0.31532	T	0.197	0.27855	T	0.026	0.19406	B	0.012	0.16012	B	0.557327	0.11372	N	0.716432	0.998808	0.21894	N	1.105	0.28596	L	0.17	0.60485	T	-0.84	0.22944	N	0.182	0.19728	-1.0137	0.25752	T	0.101	0.37543	T	10	0.07813692	0.12418	T	0.009718	0.25381	T	0.044	0.11924	0.462	0.53079	0.390913227754	0.38705	0.42519809564220296	0.42436	0.503164557005	0.48655	0.247804701328	0.03539	T	0.126807	0.45344	T	-0.261647	0.12708	T	-0.431468	0.29769	T	0.039424900795543	0.03586	T	0.715028	0.32735	T	0.13737878	0.31811	0.093699224	0.22143	0.13737878	0.31811	0.093699224	0.22143	-6.141	0.47444	T	.	.	0.068	0.02670	B	.	.	1.929242	0.24505	16.42	0.99234264705903741	0.56310	0.11374	0.16591	N	ALL	0.142685	0.26519	N	-0.617610405441943	0.18415	0.955887	-0.527967546019152	0.21395	1.157206	0.999999799768602	0.74766	0.675202	0.55065	0	0.563428	0.19063	0	0.702456	0.68683	0	0.756233	0.99697	0	.	.	5.87	1.48	0.21900	0.488000	0.22080	1.840000	0.29181	0.599000	0.40250	0.001000	0.13787	0.003000	0.18671	0.991000	0.66497	0.2784:0.495:0.0:0.2267	4.931	0.13269	884	0.28482	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	452.27	55	chr15	39588622	.	C	T	452.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.863;DP=225;ExcessHet=0;FS=2.276;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.22;ReadPosRankSum=-0.486;SOR=0.586	GT:AD:DP:GQ:PL	0/1:32,23:55:99:462,0,822	5	0	1	1
chr15	40459848	40459848	G	T	exonic	BAHD1	.	nonsynonymous SNV	BAHD1:NM_001301132:exon2:c.G1384T:p.A462S,BAHD1:NM_014952:exon2:c.G1384T:p.A462S	.	420	1088	11	3	0	17	0.00775194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.0196622205009	.	0.00199681	0.0010	9.664e-05	0.0006	0	0	0.0002	0.0011	0.0070	0.000912	141	154602	rs372997308	0.0005	0.0005	0.0003	0.0007	0.0069	0.0005	0.0005	0.0064	0.0062	5.997e-05	0.0004	0	0	0	0.0012	9.748e-05	0.0005	0.0069	0.0004	0.0004	0.0003	0.0006	0.0085	0.0004	0.0003	0.0064	0.0057	0.0001	0	0.0004	0	0	0	0	0.0002	0.0009	0.0085	0.007	0.59928	D	0.643	0.06903	T	0.028	0.19712	B	0.047	0.24832	B	0.579095	0.11161	N	0.817411	1	0.08975	N	-0.345	0.03330	N	0.41	0.57100	T	-0.2	0.10136	N	0.111	0.09772	-1.0113	0.26510	T	0.067	0.27640	T	10	0.0046699047	0.00098	T	0.019662	0.42079	T	0.023	0.04649	0.343	0.33626	0.259504319725	0.25562	0.16432030732101519	0.16352	0.225734295107	0.25122	0.250678598881	0.03840	T	0.06064	0.31441	T	-0.582152	0.00187	T	-0.605411	0.12360	T	0.00939331955240208	0.00120	T	0.754824	0.37774	T	0.04374213	0.06871	0.045280524	0.06056	0.04374213	0.06871	0.045280524	0.06056	-3.135	0.11903	T	.	.	0.080	0.13362	B	.;.;.	.;.;.	-0.239254	0.02897	0.416	0.94081081147642942	0.24231	0.18427	0.20256	N	AEFDBCI	0.101965	0.20467	N	-1.085743917904	0.06905	0.3192281	-1.0698527257442	0.08299	0.4074101	0.999934709088128	0.46732	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	6.08	-1.47	0.08312	0.127000	0.15617	0.156000	0.15349	0.676000	0.76740	0.001000	0.13787	0.000000	0.08366	0.016000	0.10718	0.4852:0.1122:0.4025:0.0	7.716	0.27870	581	0.69614	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	842.44	77	chr15	40459848	.	G	T	842.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.654;DP=308;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=-0.637;SOR=0.664	GT:AD:DP:GQ:PL	0/1:40,37:77:99:853,0,976	6	0	1	0
chr15	43240864	43240864	T	A	exonic	TGM5	.	nonsynonymous SNV	TGM5:NM_004245:exon6:c.A743T:p.K248M,TGM5:NM_201631:exon7:c.A989T:p.K330M	Peeling skin syndrome 2, Autosomal recessive	0	1507	14	1	0	16	0.00528053	.	.	.	338967	Acral_peeling_skin_syndrome|not_provided	MONDO:MONDO:0012345,MedGen:C1853354,OMIM:609796,Orphanet:263534|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.538	0.199842821306	7.7e-05	0.000399361	0.0005	0	0	0	0	0.0001	0.0033	0.0031	0.0004075	63	154602	rs201805126	0.0002	0.0002	0.0001	0.0003	0.0026	0.0002	0.0002	0.0023	0.0022	5.975e-05	2.236e-05	0	0	0	0.0012	6.745e-05	0.0004	0.0026	0.0001	0.0001	7.709e-05	0.0001	0.0019	6.507e-05	5.319e-05	0.0010	0.0007	0	0	0	0	0	0	0	0.0001	0	0.0019	0.008	0.58626	D	0.039	0.51112	D	0.909	0.73220	P	0.866	0.68059	P	0.000868	0.41335	D	0.231893	0.718985	0.29941	N	2.485	0.72352	M	-2.43	0.88689	D	-2.73	0.58085	D	0.497	0.53972	0.318	0.87846	D	0.707	0.89911	D	10	0.017929494	0.00386	T	0.199843	0.86675	D	0.538	0.80664	.	.	0.768130985018	0.76600	0.5314309952880202	0.53068	0.73787972437	0.63083	0.432078063488	0.29492	T	0.22466	0.86781	T	-0.261657	0.12708	T	-0.152306	0.59038	T	0.147743650922521	0.16922	T	0.546745	0.20563	T	0.27050513	0.50123	0.265938	0.52432	0.31301102	0.54045	0.29437104	0.55466	-7.389	0.56827	T	0.5039485173676317	0.57873	0.180	0.39613	B	.;.;.;.;.	.;.;.;.;.	3.659112	0.51976	23.2	0.99557655168147041	0.71583	0.78772	0.38915	D	AEFBI	0.460775	0.51081	N	0.174394596270673	0.49972	3.191869	0.109576006589017	0.45037	2.774107	0.999993037261078	0.74766	0.559995	0.30671	0	0.624146	0.53433	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.39	4.27	0.50009	0.211000	0.17268	4.364000	0.43127	0.601000	0.45875	0.114000	0.23067	1.000000	0.68203	0.982000	0.59238	0.0:0.0867:0.0:0.9133	9.226	0.36569	15	0.98792	Transglutaminase-like|Transglutaminase-like;Transglutaminase-like|Transglutaminase-like;Transglutaminase-like|Transglutaminase-like;Transglutaminase-like|Transglutaminase-like;.	.	.	.	.	.	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	0.003021	0.000000	0.001359	0.002924	0.050000	0.000000	0.000000	0.011364	0.07143	846.46	98	chr15	43240864	.	T	A	846.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.489;DP=276;ExcessHet=0;FS=2.648;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.64;ReadPosRankSum=1.22;SOR=0.469	GT:AD:DP:GQ:PL	0/1:56,42:98:99:857,0,1265	6	0	1	0
chr15	43366160	43366160	G	A	exonic	ZSCAN29	.	nonsynonymous SNV	ZSCAN29:NM_152455:exon3:c.C1172T:p.T391I,ZSCAN29:NM_001372080:exon4:c.C1172T:p.T391I	.	415	1105	2	0	0	2	0.000904159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00243507479702	.	.	1.651e-05	0	0	0	0	1.502e-05	0	6.086e-05	1.29e-05	2	154602	rs758479000	1.642e-05	1.642e-05	1.225e-05	2.063e-05	0.0007	1.111e-05	9.33e-06	0.0002	0.0001	0	0	0	0	0	0.0007	1.079e-05	6.623e-05	4.637e-05	1.315e-05	1.314e-05	1.286e-05	1.347e-05	2.94e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.688	0.09291	T	0.254	0.23914	T	0.001	0.07471	B	0.002	0.08700	B	0.983177	0.07854	N	1.007950	1	0.08975	N	0.905	0.23240	L	3.23	0.06931	T	-1.88	0.50012	N	0.069	0.14054	-0.9193	0.45648	T	0.015	0.05994	T	10	0.049051702	0.04439	T	0.002435	0.04785	T	0.027	0.05988	0.26	0.20315	0.163833314356	0.15978	0.24559119643105465	0.24473	0.100634872147	0.11374	0.367300063372	0.20443	T	0.012494	0.17785	T	-0.422532	0.01648	T	-0.663187	0.08052	T	0.0163669290654346	0.00405	T	0.49705	0.15447	T	0.021439431	0.00746	0.024470262	0.00467	0.021439431	0.00746	0.024470262	0.00467	-4.896	0.35690	T	.	.	0.084	0.11797	B	.;.;.;.	.;.;.;.	-0.425698	0.02119	0.201	0.48887067733504863	0.04117	0.07251	0.13275	N	AEFDBI	0.051689	0.09157	N	-1.18784485644047	0.05183	0.235684	-1.17869466865514	0.06267	0.3011182	0.999944001074726	0.47345	0.732398	0.92422	0	0.552637	0.17590	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	4.81	1.95	0.25130	-0.228000	0.09119	0.083000	0.14415	-0.127000	0.13314	0.000000	0.06391	0.000000	0.08366	0.103000	0.18424	0.2653:0.1597:0.5749:0.0	4.625	0.11860	15	0.98792	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	634.63	56	chr15	43366160	.	G	A	634.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.728;DP=235;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.33;ReadPosRankSum=0.074;SOR=0.727	GT:AD:DP:GQ:PL	0/1:29,27:56:99:645,0,732	6	0	1	0
chr15	43421079	43421079	G	A	exonic	TP53BP1	.	nonsynonymous SNV	TP53BP1:NM_001141979:exon20:c.C4196T:p.T1399M,TP53BP1:NM_001141980:exon20:c.C4196T:p.T1399M,TP53BP1:NM_005657:exon20:c.C4181T:p.T1394M,TP53BP1:NM_001355001:exon21:c.C1316T:p.T439M	.	422	1092	8	0	0	8	0.00364964	.	.	.	758712	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.162	0.013232764584	7.7e-05	0.000399361	0.0007	0	0	0	0	9.002e-05	0.0033	0.0045	0.0005563	86	154602	rs200691218	0.0003	0.0003	0.0002	0.0005	0.0040	0.0003	0.0003	0.0036	0.0035	5.974e-05	2.236e-05	3.826e-05	2.519e-05	0	0.0012	7.644e-05	0.0003	0.0040	0.0001	0.0001	6.422e-05	0.0002	0.0025	8.657e-05	7.25e-05	0.0014	0.0011	0	0	0	0	0	0	0.0034	0.0001	0	0.0025	0.0	0.91255	D	0.006	0.70582	D	1.0	0.90584	D	0.987	0.77487	D	0.000062	0.52346	D	0.121047	0.986631	0.81001	D	2.045	0.56016	M	3.36	0.05918	T	-2.55	0.55181	D	0.346	0.42931	-1.1394	0.01380	T	0.042	0.18076	T	10	0.009740233	0.00219	T	0.013233	0.32470	T	0.162	0.41843	.	.	0.263709349026	0.25991	0.3476731069296314	0.34681	1.74205220635	0.90873	0.778426110744	0.78691	T	0.664096	0.89954	D	-0.437985	0.01329	T	-0.401919	0.33161	T	0.193006172776222	0.20020	T	0.931307	0.74459	D	0.33120018	0.55569	0.31619275	0.57601	0.33120018	0.55569	0.31619275	0.57600	-8.847	0.66707	D	.	.	0.421	0.60725	A	.;.;.	.;.;.	4.725613	0.76062	26.4	0.99889203722948816	0.96359	0.97069	0.72509	D	AEFDBI	0.546325	0.56047	D	0.637568227512038	0.75566	6.32876	0.666946965360565	0.79878	7.176436	0.999998909707621	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.41	5.41	0.78313	5.535000	0.66885	11.901000	0.99356	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	19.581	0.95460	18	0.98631	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.000000	0.001359	0.000000	0.050000	0.000000	0.000000	0.007576	0.07143	724.63	74	chr15	43421079	.	G	A	724.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.296;DP=252;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.79;ReadPosRankSum=1.37;SOR=0.726	GT:AD:DP:GQ:PL	0/1:40,34:74:99:735,0,869	6	0	1	0
chr15	50925167	50925167	G	A	exonic	AP4E1	.	nonsynonymous SNV	AP4E1:NM_001252127:exon5:c.G265A:p.E89K,AP4E1:NM_007347:exon5:c.G490A:p.E164K	Spastic paraplegia 51, autosomal recessive, Autosomal recessive;Stuttering, familial persistent, 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1944525	Spastic_paraplegia	Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.357	0.0280749157658	.	.	8.264e-06	0	0	0	0	1.503e-05	0	0	1.29e-05	2	154602	rs556357549	4.79e-06	4.788e-06	4.085e-06	5.502e-06	1.16e-05	1.99e-06	1.28e-06	1.94e-06	1.28e-06	0	0	0	0	0	0	5.397e-06	0	1.16e-05	1.97e-05	1.968e-05	0	4.029e-05	6.539e-05	5.24e-06	2.45e-06	.	.	2.406e-05	0	6.539e-05	0	0	0	0	1.47e-05	0	0	0.004	0.65419	D	0.016	0.60972	D	1.0	0.90584	D	0.982	0.75477	D	0.000000	0.84330	D	0.052250	1	0.81001	D	2.455	0.71248	M	2.31	0.16794	T	-3.8	0.71762	D	0.485	0.51940	-0.9353	0.43349	T	0.135	0.44971	T	10	0.40395916	0.55762	T	0.028075	0.50806	D	0.357	0.67782	0.542	0.65446	0.369524611565	0.36568	0.29057527201993233	0.28970	0.548098038175	0.51770	0.739223480225	0.72858	T	0.290083	0.66286	T	-0.113933	0.34120	T	-0.304579	0.44240	T	0.974646866321564	0.70595	D	0.964104	0.86689	D	0.9145642	0.92724	0.8099173	0.88895	0.9145642	0.92725	0.8099173	0.88895	-9.551	0.74187	D	.	.	0.753	0.75196	P	.;.	.;.	5.250335	0.88146	29.5	0.99932381095955025	0.99439	0.98648	0.85116	D	AEFDBI	0.880757	0.80762	D	0.797101372753598	0.85924	8.723904	0.781996282867424	0.88515	9.610971	0.999999999999914	0.74766	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	5.53	5.53	0.82530	9.602000	0.97623	11.747000	0.95320	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.794000	0.37478	0.0:0.0:1.0:0.0	18.441	0.90614	206	0.91974	Clathrin/coatomer adaptor, adaptin-like, 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	.	.	.	.	.	.	.	.	0.07143	753.53	72	chr15	50925167	.	G	A	753.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.193;DP=262;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.47;ReadPosRankSum=0.378;SOR=0.701	GT:AD:DP:GQ:PL	0/1:37,35:72:99:764,0,864	6	0	1	0
chr15	66326260	66326260	C	G	exonic	DIS3L	.	nonsynonymous SNV	DIS3L:NM_001323937:exon11:c.C1719G:p.S573R,DIS3L:NM_001323940:exon11:c.C987G:p.S329R,DIS3L:NM_001323943:exon11:c.C987G:p.S329R,DIS3L:NM_001323948:exon11:c.C1917G:p.S639R,DIS3L:NM_001143688:exon12:c.C2097G:p.S699R,DIS3L:NM_001323936:exon12:c.C1848G:p.S616R,DIS3L:NM_001323938:exon12:c.C1695G:p.S565R,DIS3L:NM_001323941:exon12:c.C1695G:p.S565R,DIS3L:NM_001323944:exon12:c.C2046G:p.S682R,DIS3L:NM_001323945:exon12:c.C1848G:p.S616R,DIS3L:NM_001323946:exon12:c.C1695G:p.S565R,DIS3L:NM_133375:exon12:c.C1848G:p.S616R,DIS3L:NM_001323939:exon13:c.C1695G:p.S565R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00807237602779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.37e-06	7.595e-05	1.363e-06	1.376e-06	1.801e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.801e-06	0	0	0	1.315e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.155	0.25355	T	0.353	0.17320	T	0.029	0.19866	B	0.033	0.22329	B	0.055829	0.22610	N	0.539436	0.999548	0.47497	D	-0.285	0.03692	N	1.3	0.35590	T	-1.92	0.44657	N	0.196	0.22228	-1.0764	0.08063	T	0.043	0.18618	T	10	0.08429423	0.14113	T	0.008072	0.21393	T	0.025	0.05312	0.424	0.46857	0.500994481783	0.49735	0.48282530288770603	0.48202	0.189759959303	0.21295	0.441389143467	0.30767	T	0.019826	0.15725	T	-0.2058	0.19975	T	-0.533394	0.18948	T	0.371591597795486	0.27858	T	0.811819	0.46320	T	0.13266377	0.30883	0.17544033	0.40009	0.13266377	0.30882	0.17544033	0.40008	-9.64	0.71728	D	.	.	0.195	0.42820	B	.;.	.;.	2.006311	0.25495	16.78	0.99354999151066503	0.60738	0.93367	0.58027	D	AEFBI	0.310496	0.41649	N	-0.52080163687102	0.21409	1.135919	-0.344169861240159	0.26690	1.475863	0.235350875039061	0.18512	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.4	2.44	0.28875	0.637000	0.24348	0.590000	0.19811	0.581000	0.30040	0.997000	0.40164	0.998000	0.33993	0.995000	0.73285	0.0:0.5695:0.1341:0.2964	5.619	0.16725	644	0.63734	.;Ribonuclease II/R|Ribonuclease II/R	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	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	0/1:42,14:56:51:51,0,780	3	0	3	1
chr15	67826673	67826673	T	G	exonic	SKOR1	.	nonsynonymous SNV	SKOR1:NM_001365915:exon2:c.T845G:p.L282R	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.136	0.095764245124	0.0015	0.000399361	0.0012	0	0.0012	0	0	0.0021	0	0	0.0007309	113	154602	rs199971924	0.0021	0.0020	0.0022	0.0019	0.0025	0.0020	0.0020	0.0024	0.0024	0.0002	0.0013	0.0025	0	0.0002	0.0002	0.0025	0.0016	0	0.0011	0.0011	0.0012	0.0010	0.0018	0.0010	0.0009	0.0015	0.0014	0.0002	0	0.0015	0.0032	0	0.0002	0	0.0018	0.0019	0	0.058	0.44358	T	0.399	0.15109	T	.	.	.	.	.	.	0.273270	0.15086	N	0.482787	0.999999	0.58761	D	0.805	0.20218	L	1.6	0.28604	T	-1.46	0.35792	N	0.493	0.55799	-1.0812	0.07118	T	0.103	0.38069	T	6	0.011685371	0.00254	T	0.095764	0.76486	D	0.136	0.36778	.	.	0.295974979623	0.29207	.	.	.	.	.	.	.	0.014324	0.12216	T	-0.336111	0.05662	T	-0.262841	0.48540	T	0.0103845413639	0.00142	T	0.676232	0.28483	T	0.40318388	0.60952	0.3450368	0.60192	0.40318388	0.60953	0.3450368	0.60192	-6.099	0.47100	T	.	.	0.613	0.69415	P	.;.;.	.;.;.	4.758664	0.76912	26.6	0.99504740210213904	0.68264	0.90501	0.51730	D	AEFDGBHCI	0.190171	0.31740	N	-0.0534079137111613	0.39450	2.326612	-0.0755109215414664	0.36406	2.118246	0.999999994502492	0.74766	0.59774	0.34471	0	0.627178	0.54094	0	0.666236	0.60216	0	0.63947	0.58350	0	.	.	4.58	4.58	0.56077	2.376000	0.43947	6.130000	0.53904	0.665000	0.62972	0.986000	0.36153	1.000000	0.68203	0.891000	0.42908	0.0:0.0:0.0:1.0	10.648	0.44825	337	0.86119	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	792.63	61	chr15	67826673	.	T	G	792.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.54;DP=247;ExcessHet=0;FS=2.267;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.99;ReadPosRankSum=0.968;SOR=1.022	GT:AD:DP:GQ:PL	0/1:32,29:61:99:803,0,845	6	0	1	0
chr15	75339279	75339279	T	C	exonic	COMMD4	.	nonsynonymous SNV	COMMD4:NM_001321845:exon4:c.T179C:p.L60P,COMMD4:NM_001284379:exon5:c.T335C:p.L112P,COMMD4:NM_001321846:exon5:c.T251C:p.L84P,COMMD4:NM_001321847:exon5:c.T251C:p.L84P,COMMD4:NM_001321848:exon5:c.T335C:p.L112P,COMMD4:NM_001284377:exon6:c.T317C:p.L106P,COMMD4:NM_001321844:exon6:c.T245C:p.L82P,COMMD4:NM_017828:exon6:c.T317C:p.L106P	.	438	1079	5	0	0	5	0.0023116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.442	0.115208052658	0.0002	.	0.0003	0	8.814e-05	0.0001	0	0.0004	0	0.0004	0.0002523	39	154602	rs373430411	0.0002	0.0002	0.0002	0.0002	0.0007	0.0002	0.0002	0.0002	0.0002	0	2.236e-05	7.652e-05	0.0003	1.872e-05	0.0007	0.0002	0.0001	0.0003	0.0001	0.0001	0.0002	0.0001	0.0004	9.147e-05	7.702e-05	0.0001	7.893e-05	7.236e-05	0	0.0001	0	0.0004	0	0	0.0002	0	0.0004	0.04	0.47745	D	0.029	0.54541	D	0.974	0.57829	D	0.79	0.57710	P	0.000002	0.62929	D	0.000000	1	0.81001	D	2.78	0.81115	M	2.39	0.15724	T	-5.76	0.89029	D	0.962	0.98368	-0.8622	0.51104	T	0.116	0.41053	T	10	0.5248448	0.62850	D	0.115208	0.79431	D	0.442	0.74518	.	.	0.353548585375	0.34966	0.8422590522724507	0.84185	0.893908206387	0.70341	0.838452219963	0.87859	D	0.267569	0.73634	T	-0.0374893	0.46321	T	0.038374	0.72822	D	0.509023070335388	0.32961	D	0.70183	0.31596	T	0.8946847	0.90913	0.8529498	0.91702	0.8946847	0.90915	0.8529498	0.91703	-14.724	0.95172	D	.	.	0.938	0.90412	P	.;.;.;.;.;.	.;.;.;.;.;.	5.128608	0.85820	28.7	0.99731357588547054	0.82761	0.98393	0.82318	D	AEFBI	0.963467	0.98537	D	0.439748457118002	0.63623	4.599751	0.432991274372709	0.63633	4.600886	0.999997378540869	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.58	4.58	0.56077	3.699000	0.54511	7.817000	0.69620	0.658000	0.54486	1.000000	0.71638	1.000000	0.68203	0.695000	0.33988	0.0:0.0:0.0:1.0	13.466	0.60705	499	0.76092	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	116.49	67	chr15	75339279	.	T	C	116.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.912;DP=259;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=57.74;MQRankSum=-8.088;QD=1.74;ReadPosRankSum=3.67;SOR=0.489	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:59,8:67:99:0|1:75339279_T_C:127,0,2357:75339279	6	0	1	0
chr15	75339284	75339284	C	T	exonic	COMMD4	.	nonsynonymous SNV	COMMD4:NM_001321845:exon4:c.C184T:p.R62C,COMMD4:NM_001284379:exon5:c.C340T:p.R114C,COMMD4:NM_001321846:exon5:c.C256T:p.R86C,COMMD4:NM_001321847:exon5:c.C256T:p.R86C,COMMD4:NM_001321848:exon5:c.C340T:p.R114C,COMMD4:NM_001284377:exon6:c.C322T:p.R108C,COMMD4:NM_001321844:exon6:c.C250T:p.R84C,COMMD4:NM_017828:exon6:c.C322T:p.R108C	.	440	1076	6	0	0	6	0.00278035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.167782209255	0.0002	.	0.0001	0	0.0002	0.0002	0	9.21e-05	0	0.0001	8.41e-05	13	154602	rs377428086	0.0001	0.0002	0.0001	0.0001	0.0005	0.0001	0.0001	0.0001	0.0001	2.993e-05	8.946e-05	0	0.0002	1.872e-05	0.0005	0.0001	9.968e-05	0.0001	0.0002	0.0003	0.0002	0.0002	0.0029	0.0002	0.0002	0.0018	0.0014	0.0002	0	0.0003	0	0.0029	0	0	0.0001	0	0.0004	0.069	0.45756	T	0.033	0.53426	D	0.371	0.34093	B	0.175	0.35598	B	0.000002	0.62929	D	0.059165	1	0.81001	D	2.76	0.80626	M	2.8	0.11082	T	-6.1	0.90371	D	0.647	0.72388	-1.0919	0.05223	T	0.047	0.20275	T	10	0.29890493	0.47445	T	0.167782	0.84605	D	0.160	0.41473	.	.	0.323886383625	0.31992	0.43562391172678777	0.43479	0.500387696712	0.48461	0.794249176979	0.81088	T	0.146129	0.48698	T	-0.150871	0.28174	T	-0.190064	0.55584	T	0.573064088821411	0.35352	D	0.90351	0.66162	D	0.26001346	0.49056	0.31395358	0.57390	0.26001346	0.49056	0.31395358	0.57389	-8.178	0.62276	D	.	.	0.165	0.49807	B	.;.;.;.;.;.	.;.;.;.;.;.	4.863446	0.79612	27.1	0.99731738107172074	0.82833	0.94955	0.62914	D	AEFBI	0.597564	0.59130	D	0.174525288898486	0.49979	3.192424	0.24819373268159	0.52548	3.42883	0.99940722412738	0.39524	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.58	4.58	0.56077	2.632000	0.46177	5.916000	0.51093	-0.183000	0.09960	1.000000	0.71638	1.000000	0.68203	0.707000	0.34357	0.0:1.0:0.0:0.0	16.78	0.85423	499	0.76092	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	131.49	62	chr15	75339284	.	C	T	131.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.701;DP=253;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=57.52;MQRankSum=-7.771;QD=2.12;ReadPosRankSum=3.29;SOR=0.56	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:54,8:62:99:0|1:75339279_T_C:142,0,2209:75339279	6	0	1	0
chr15	75688222	75688222	C	T	exonic	CSPG4	.	nonsynonymous SNV	CSPG4:NM_001897:exon3:c.G2843A:p.R948H	.	427	1092	3	0	0	3	0.00137174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00866160201881	7.7e-05	0.000399361	0.0003	0.0003	8.669e-05	0	0.0017	0.0002	0.0011	0.0001	0.0002305	6	26028	rs143336068	0.0001	0.0001	0.0001	0.0001	0.0003	0.0001	0.0001	0.0002	0.0002	8.963e-05	2.236e-05	3.827e-05	0	0.0013	0	8.634e-05	6.626e-05	0.0003	0.0003	0.0003	0.0003	0.0004	0.0010	0.0003	0.0002	0.0004	0.0003	7.212e-05	0	0	0.0003	0	0.0022	0.0034	0.0002	0.0005	0.0010	0.136	0.26085	T	0.06	0.45744	T	0.909	0.50183	P	0.306	0.41250	B	0.272202	0.15106	N	0.622737	0.999999	0.08975	N	1.245	0.31408	L	1.42	0.33189	T	-1.38	0.34198	N	0.174	0.18649	-1.0703	0.09348	T	0.041	0.17530	T	10	0.009926319	0.00223	T	0.008662	0.22878	T	0.029	0.06676	.	.	0.264081493735	0.26024	0.33849989036879463	0.33762	0.415926434887	0.42235	0.240603357553	0.02845	T	0.143437	0.47955	T	-0.447195	0.01173	T	-0.575593	0.14941	T	0.0106415769130787	0.00149	T	0.708429	0.31914	T	0.030648287	0.02764	0.026899846	0.00806	0.030648287	0.02763	0.026899846	0.00806	-5.749	0.44128	T	.	.	0.073	0.04847	B	.	.	0.724549	0.10936	7.604	0.98488056177300454	0.42061	0.05475	0.11357	N	AEFGBI	0.111209	0.22026	N	-0.61090213798014	0.18617	0.9679196	-0.753613483266435	0.15633	0.8231983	0.929035875804008	0.26952	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.63947	0.58350	0	.	.	5.02	0.967	0.18792	0.037000	0.13728	-1.853000	0.04608	-1.028000	0.01704	0.003000	0.16062	0.000000	0.08366	0.167000	0.20881	0.0:0.559:0.1315:0.3095	6.302	0.20323	162	0.93704	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000508	0.000000	0.000000	0.000000	0.000000	0.000000	0.003067	0.000000	0.1429	3255.24	104	chr15	75688222	.	C	T	3255.24	.	AC=2;AF=0.143;AN=14;DP=439;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=59.31;QD=31.3;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,104:104:99:3276,310,0	6	1	0	0
chr15	75690325	75690325	C	A	exonic	CSPG4	.	nonsynonymous SNV	CSPG4:NM_001897:exon3:c.G740T:p.R247L	.	242	1239	41	0	0	41	0.0162763	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.336	.	.	.	0.0072	0.0221	0.0051	0.0002	0.0016	0.0082	0.0106	0.0026	4.53e-05	7	154602	rs150241616	0.0023	0.0075	0.0022	0.0023	0.0104	0.0022	0.0022	0.0083	0.0075	0.0076	0.0012	0.0014	0	0.0013	0.0104	0.0024	0.0019	0.0007	0.0003	0.0038	0.0003	0.0004	0.0006	0.0003	0.0002	0.0004	0.0004	0.0006	0	0.0003	0	0	9.443e-05	0.0035	0.0003	0.0010	0	0.027	0.46513	D	0.073	0.43159	T	0.579	0.38789	P	0.155	0.34417	B	0.963717	0.07733	N	1.017680	0.999987	0.18198	N	1.59	0.40313	L	-1.15	0.77964	T	-2.52	0.54702	D	0.26	0.29429	-0.8451	0.52304	T	0.136	0.45164	T	10	0.0137501955	0.00291	T	.	.	.	0.336	0.65816	.	.	0.456089687795	0.45231	0.5956843285600265	0.59498	0.526958073932	0.50312	0.209487393498	0.00790	T	0.353228	0.72055	T	-0.0896309	0.38139	T	-0.366525	0.37296	T	0.0229721219108999	0.01020	T	0.69823	0.30825	T	0.0856866	0.19887	0.17583492	0.40076	0.0856866	0.19887	0.17583492	0.40075	-4.458	0.30335	T	.	.	0.087	0.11414	B	.	.	0.218507	0.06011	2.453	0.95054651626861075	0.26075	0.16596	0.19462	N	AEFBI	0.241601	0.36319	N	-1.19395214962389	0.05091	0.2312774	-1.31445633219564	0.04242	0.1997009	0.999317597206819	0.39113	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.530356	0.10902	0	.	.	5.21	-7.51	0.01203	0.200000	0.17055	-6.465000	0.01391	-1.914000	0.00512	0.003000	0.16062	0.000000	0.08366	0.346000	0.25568	0.0:0.1131:0.1092:0.7777	12.053	0.52813	162	0.93704	Laminin G domain|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	0	0	0	1	0	0	0	0.024083	0.013889	0.035616	0.021739	0.000000	0.017241	0.014493	0.008065	0.07143	778.83	60	chr15	75690325	.	C	A	778.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2;DP=268;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=47.2;MQRankSum=-5.072;QD=12.98;ReadPosRankSum=1.74;SOR=0.866	GT:AD:DP:GQ:PL	0/1:30,30:60:99:789,0,698	6	0	1	0
chr15	78274284	78274284	G	C	exonic	DNAJA4	.	nonsynonymous SNV	DNAJA4:NM_001130182:exon4:c.G506C:p.G169A,DNAJA4:NM_001130183:exon4:c.G425C:p.G142A,DNAJA4:NM_018602:exon5:c.G593C:p.G198A	.	422	1088	12	0	0	12	0.00548446	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.685	.	0.0002	0.00519169	0.0025	0.0002	8.678e-05	0.0001	0	0.0002	0.0022	0.0170	0.0021345	330	154602	rs149661275	0.0012	0.0012	0.0007	0.0017	0.0170	0.0011	0.0011	0.0163	0.0160	8.961e-05	0.0003	0.0001	5.038e-05	0	0.0033	0.0001	0.0014	0.0170	0.0008	0.0008	0.0005	0.0012	0.0201	0.0007	0.0007	0.0169	0.0157	9.623e-05	0	0.0005	0.0003	0.0006	0	0.0034	0.0002	0.0009	0.0201	0.001	0.78490	D	0.022	0.83351	D	0.999	0.77913	D	0.919	0.76916	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.58	0.93551	H	-0.16	0.69657	T	-5.51	0.86527	D	0.808	0.82862	0.569	0.91487	D	0.661	0.88235	D	10	0.014220059	0.00299	T	.	.	.	0.685	0.88490	.	.	0.921348960271	0.92055	0.5592713310500774	0.55854	0.944348631935	0.72353	0.623005867004	0.56154	T	0.168107	0.51499	T	-0.00535027	0.50913	T	0.232512	0.84791	D	0.178344698035607	0.19130	T	0.983602	0.94423	D	0.8629819	0.88313	0.82959324	0.90158	0.8629819	0.88315	0.82959324	0.90159	-9.519	0.73202	D	.	.	0.659	0.71281	P	.;.;.;.	.;.;.;.	5.040104	0.83879	28.2	0.99853672934908155	0.93279	0.99387	0.95371	D	AEFDBI	0.939978	0.94130	D	1.133867259664	0.98714	19.12637	1.06288667865194	0.99516	23.37584	1.0	0.98316	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.91	5.91	0.95240	9.790000	0.98212	11.653000	0.93904	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	19.287	0.94064	744	0.52588	.;Heat shock protein DnaJ, cysteine-rich domain|Chaperone DnaJ, C-terminal|Heat shock protein DnaJ, cysteine-rich domain|Heat shock protein DnaJ, cysteine-rich domain;Heat shock protein DnaJ, cysteine-rich domain|Chaperone DnaJ, C-terminal|Heat shock protein DnaJ, cysteine-rich domain|Heat shock protein DnaJ, cysteine-rich domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.002717	0.002924	0.000000	0.000000	0.003049	0.011364	0.1429	2747.63	90	chr15	78274284	.	G	C	2747.63	.	AC=2;AF=0.143;AN=14;DP=264;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=30.53;SOR=0.738	GT:AD:DP:GQ:PL	1/1:0,90:90:99:2768,270,0	6	1	0	0
chr15	88530840	88530840	T	C	exonic	DET1	.	nonsynonymous SNV	DET1:NM_001144074:exon2:c.A866G:p.D289G,DET1:NM_001321596:exon3:c.A866G:p.D289G,DET1:NM_017996:exon3:c.A899G:p.D300G,DET1:NM_001321594:exon4:c.A764G:p.D255G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.318	0.00613817741382	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.51853	D	0.009	0.66756	D	0.505	0.37231	P	0.27	0.39872	B	0.000016	0.62929	D	0.152324	0.999966	0.81001	D	1.385	0.34509	L	.	.	.	-3.25	0.65283	D	0.479	0.51672	-0.7606	0.57373	T	0.199	0.55428	T	9	0.52906257	0.63078	D	0.006138	0.16082	T	0.318	0.64008	0.456	0.52102	0.0675242888579	0.06100	0.595297197239194	0.59459	0.736621479123	0.63016	0.657280743122	0.61021	T	0.425961	0.77591	T	0.0656937	0.60321	T	-0.143412	0.59821	T	0.961599886417389	0.66126	D	0.915108	0.69728	D	0.35442662	0.57409	0.35527286	0.61058	0.35442662	0.57409	0.35527286	0.61057	-3.559	0.17871	T	.	.	0.422	0.62236	A	.;.;.;.	.;.;.;.	3.993478	0.58790	24.0	0.9968250448962318	0.79373	0.98529	0.83755	D	AEFBI	0.844511	0.76147	D	0.374329023459271	0.60035	4.188161	0.514087085182772	0.68935	5.28951	0.999999999890716	0.74766	0.651	0.46895	0	0.546412	0.12157	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	6.17	6.17	0.99707	7.279000	0.77969	7.849000	0.70877	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.003	0.80122	882	0.29131	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	36.89	54	chr15	88530840	.	T	C	36.89	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-2.707;DP=467;ExcessHet=0.4139;FS=202.526;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.23;ReadPosRankSum=1.09;SOR=7.824	GT:AD:DP:GQ:PL	0/1:41,13:54:28:28,0,848	4	0	2	1
chr15	88905757	88905757	C	T	exonic	MFGE8	.	nonsynonymous SNV	MFGE8:NM_001310319:exon4:c.G553A:p.G185R,MFGE8:NM_001114614:exon5:c.G685A:p.G229R,MFGE8:NM_001310321:exon5:c.G349A:p.G117R,MFGE8:NM_005928:exon5:c.G685A:p.G229R,MFGE8:NM_001310320:exon6:c.G661A:p.G221R	.	418	1089	15	0	0	15	0.00683995	1.0000	0.968	.	739851	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.643	0.422477141003	0.0005	0.00139776	0.0013	0	0.0007	0	0	0.0007	0.0044	0.0063	0.0011643	180	154602	rs148279922	0.0008	0.0008	0.0006	0.0009	0.0057	0.0007	0.0007	0.0053	0.0051	8.961e-05	0.0007	0.0051	0	0.0001	0.0019	0.0003	0.0012	0.0057	0.0006	0.0006	0.0006	0.0007	0.0060	0.0005	0.0005	0.0043	0.0037	4.812e-05	0	0.0002	0.0072	0.0004	0	0.0034	0.0005	0.0014	0.0060	0.001	0.91255	D	0.036	0.72224	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.047868	1	0.81001	D	2.795	0.81503	M	-1.71	0.83157	D	-5.98	0.91868	D	0.88	0.90590	0.388	0.88915	D	0.698	0.89602	D	9	0.053219825	0.05477	T	0.422477	0.93821	D	0.643	0.86435	0.485	0.56780	0.905101539505	0.90415	0.8869347806286604	0.88662	0.594357360814	0.54751	0.559940934181	0.47259	T	0.52122	0.83260	D	-0.163247	0.26262	T	-0.00479646	0.70024	D	0.137562387423378	0.16063	T	0.979702	0.93041	D	0.64230967	0.74954	0.5605565	0.74575	0.64230967	0.74956	0.5605565	0.74576	-5.191	0.45630	T	.	.	0.441	0.61765	A	.;.;.;.	.;.;.;.	5.264220	0.88388	29.6	0.99883229125342099	0.95892	0.95365	0.64436	D	AEFBHCI	0.962876	0.98460	D	0.664026003406121	0.77279	6.644366	0.584703430595167	0.73842	6.037225	1.0	0.98316	0.706548	0.73137	0	0.588015	0.36545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.97	4.97	0.65419	7.696000	0.83499	7.595000	0.61372	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.043000	0.14563	0.0:1.0:0.0:0.0	17.818	0.88552	958	0.09170	Coagulation factor 5/8 C-terminal domain;Coagulation factor 5/8 C-terminal domain;Coagulation factor 5/8 C-terminal domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002520	0.005051	0.002717	0.008772	0.000000	0.000000	0.000000	0.000000	0.07143	433.46	63	chr15	88905757	.	C	T	433.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.5;DP=242;ExcessHet=0;FS=2.379;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.88;ReadPosRankSum=-1.019;SOR=1.112	GT:AD:DP:GQ:PL	0/1:43,20:63:99:444,0,1057	6	0	1	0
chr15	89625987	89625987	C	T	exonic	TICRR	.	nonsynonymous SNV	TICRR:NM_001308025:exon21:c.C5525T:p.A1842V,TICRR:NM_152259:exon21:c.C5528T:p.A1843V	.	422	1096	4	0	0	4	0.00182149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	0.0106186141955	.	0.000199681	0.0003	9.677e-05	0	0	0	0.0001	0.0036	0.0023	0.0002652	41	154602	rs200631269	0.0002	0.0002	0.0001	0.0003	0.0027	0.0002	0.0002	0.0024	0.0023	0	2.293e-05	0	2.52e-05	0	0.0002	5.679e-05	0.0002	0.0027	0.0002	0.0002	6.426e-05	0.0002	0.0017	0.0001	8.713e-05	0.0008	0.0006	2.407e-05	0	0	0	0.0004	0	0	0.0002	0	0.0017	0.007	0.59928	D	0.015	0.61642	D	0.372	0.34134	B	0.15	0.34161	B	0.000358	0.45440	D	0.185868	0.998492	0.22118	N	0.69	0.16971	N	3.07	0.08547	T	-2.0	0.46146	N	0.264	0.36464	-0.9958	0.31082	T	0.018	0.07706	T	10	0.013040841	0.00278	T	0.010619	0.27366	T	0.135	0.36572	.	.	0.173771789658	0.16945	0.2409480580541644	0.24008	0.0405451585251	0.04348	0.395540475845	0.24447	T	0.008635	0.07919	T	-0.458323	0.01007	T	-0.436053	0.29251	T	0.101585156083369	0.12530	T	0.744825	0.36507	T	0.09909967	0.23382	0.14718981	0.34843	0.09909967	0.23382	0.14718981	0.34842	-4.4	0.29557	T	.	.	0.219	0.48644	B	.;.	.;.	2.745663	0.35978	20.1	0.99498007841945357	0.67859	0.83755	0.42852	D	AEFDBCI	0.418418	0.48606	N	-0.358343481768235	0.26967	1.475886	-0.297396675806421	0.28183	1.569409	0.999240081121059	0.38873	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	4.89	3.97	0.45241	4.743000	0.61805	8.374000	0.77054	-0.184000	0.09925	0.996000	0.39380	1.000000	0.68203	0.952000	0.50033	0.0:0.1612:0.8388:0.0	13.802	0.62697	859	0.33891	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	472.63	51	chr15	89625987	.	C	T	472.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.78;DP=229;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.27;ReadPosRankSum=0.057;SOR=0.846	GT:AD:DP:GQ:PL	0/1:29,22:51:99:483,0,624	6	0	1	0
chr15	89776903	89776915	AGGGCAGGGGCAG	0	exonic	MESP2	.	.	.	Spondylocostal dysostosis 2, autosomal recessive	68	42	561	596	255	2008	0.954273	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	5841.52	24	chr15	89776903	.	AGGGCAGGGGCAG	*	5841.52	.	AC=4;AF=0.286;AN=14;DP=222;ExcessHet=0;FS=0;MLEAC=4;MLEAF=0.286;MQ=60;QD=30.58;SOR=0.746	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,13:24:99:1|0:89776889_GAGGGGCAGGGGCAAGGGCAGGGGC_G:997,445,403:89776889	4	1	2	0
chr16	1218439	1218439	G	A	exonic	CACNA1H	.	nonsynonymous SNV	CACNA1H:NM_001005407:exon32:c.G5657A:p.R1886H,CACNA1H:NM_021098:exon33:c.G5675A:p.R1892H	Hyperaldosteronism, familial, type IV, Autosomal dominant	0	1502	20	0	0	20	0.00661376	.	.	.	1157619	not_provided|Idiopathic_generalized_epilepsy|Hyperaldosteronism,_familial,_type_IV	MedGen:C3661900|MONDO:MONDO:0005579,MedGen:C0270850,OMIM:600669,OMIM:PS600669|MONDO:MONDO:0014875,MedGen:C4310756,OMIM:617027,Orphanet:642671	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.289	0.230569211625	.	0.000798722	0.0004	0.0005	0	0	0	0.0003	0	0.0006	0.0001617	25	154602	rs58667649	0.0002	0.0002	0.0001	0.0003	0.0026	0.0002	0.0002	0.0016	0.0014	6.31e-05	5.565e-05	0	8.368e-05	0	0.0026	8.606e-05	0.0004	0.0017	0.0002	0.0002	0.0001	0.0002	0.0015	0.0001	9.233e-05	0.0007	0.0005	4.813e-05	0	0.0003	0	0	0	0.0034	0.0001	0	0.0015	0.12	0.27904	T	0.108	0.38160	T	0.696	0.63424	P	0.075	0.49411	B	0.000000	0.00162	N	217.147000	1	0.08975	N	0.345	0.11182	N	-4.02	0.96402	D	-0.32	0.12283	N	0.121	0.11197	0.181	0.85590	D	0.748	0.91401	D	10	0.02485764	0.00699	T	0.230569	0.88236	D	0.289	0.60808	.	.	0.686264368364	0.68357	0.28994561901116644	0.28907	.	.	0.418811500072	0.27673	T	0.111524	0.42708	T	-0.306378	0.08070	T	-0.242946	0.50510	T	0.010467638469209	0.00144	T	0.608739	0.23025	T	0.052658413	0.09854	0.03237358	0.01963	0.064911254	0.13820	0.036766883	0.03190	-4.592	0.32071	T	0.08143372016908992	0.04205	0.089	0.14108	B	.;.;.;.	.;.;.;.	0.662662	0.10309	7.042	0.99744602681041505	0.83778	0.05902	0.11853	N	AEFBCI	0.100308	0.20173	N	-0.867638323477869	0.11619	0.5616765	-1.0072562263633	0.09625	0.47993	0.00315771082778046	0.09960	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	3.05	-0.615	0.11005	-0.683000	0.05280	-0.807000	0.07350	-0.106000	0.15538	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1086:0.1665:0.5543:0.1706	3.374	0.06811	929	0.16858	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.07143	1331.49	105	chr16	1218439	.	G	A	1331.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.213;DP=402;ExcessHet=0;FS=0.739;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.68;ReadPosRankSum=-0.055;SOR=0.555	GT:AD:DP:GQ:PL	0/1:49,56:105:99:1342,0,1127	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	1/1:0,32:32:99:.:.:1194,108,0:.	0	3	3	1
chr16	2246926	2246926	G	A	exonic	ECI1	.	nonsynonymous SNV	ECI1:NM_001178029:exon3:c.C227T:p.T76M,ECI1:NM_001919:exon3:c.C227T:p.T76M	.	429	1039	50	4	0	58	0.0271536	.	.	.	967234	Complex_I_deficiency|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.425	.	0.0028	0.00658946	0.0083	0.0006	0.0030	0	0.0017	0.0055	0.0089	0.0349	0.007432	1149	154602	rs112729404	0.0053	0.0053	0.0042	0.0064	0.0349	0.0052	0.0051	0.0338	0.0334	0.0010	0.0021	0.0174	7.557e-05	0.0016	0.0282	0.0031	0.0067	0.0349	0.0036	0.0036	0.0032	0.0041	0.0299	0.0034	0.0033	0.0259	0.0244	0.0007	0	0.0026	0.0135	0.0004	0.0012	0.0646	0.0037	0.0033	0.0299	0.072	0.34982	T	0.072	0.48336	T	0.943	0.55554	P	0.344	0.42549	B	0.000000	0.84330	N	0.050039	1	0.81001	D	2.23	0.63091	M	-0.37	0.68892	T	-3.35	0.66436	D	0.467	0.51851	-0.7118	0.59864	T	0.228	0.59372	T	10	0.0073796213	0.00168	T	.	.	.	0.425	0.73299	.	.	0.353125101423	0.34923	0.791210419671449	0.79073	0.23438854129	0.25976	0.49139213562	0.37632	T	0.400195	0.75784	T	-0.173626	0.24687	T	0.00358432	0.70568	D	0.0677868819702007	0.08337	T	0.89861	0.64536	D	0.44832537	0.63935	0.29479742	0.55511	0.44832537	0.63936	0.29479742	0.55510	-7.575	0.58136	D	.	.	0.157	0.46949	B	.;.;.;.	.;.;.;.	3.230173	0.44050	21.9	0.88066581068473471	0.17691	0.95841	0.66383	D	AEFBCI	0.818677	0.73988	D	-0.134269476967074	0.35905	2.068471	-0.218506891995213	0.30872	1.742091	0.605736620092496	0.21763	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.21	3.22	0.36041	6.130000	0.71403	8.347000	0.77005	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.045000	0.14751	0.0817:0.1478:0.7705:0.0	9.082	0.35717	556	0.71678	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.025706	0.015152	0.010870	0.032164	0.050000	0.008621	0.036810	0.049242	0.1429	901.34	27	chr16	2246926	.	G	A	901.34	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.56;DP=225;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=11.13;ReadPosRankSum=1.63;SOR=0.739	GT:AD:DP:GQ:PL	0/1:16,11:27:99:270,0,361	5	0	2	0
chr16	2298532	2298532	G	A	exonic	ABCA3	.	nonsynonymous SNV	ABCA3:NM_001089:exon15:c.C1750T:p.P584S	Surfactant metabolism dysfunction, pulmonary, 3, Autosomal recessive	4	1505	13	0	0	13	0.00430036	.	.	.	334209	Interstitial_lung_disease_due_to_ABCA3_deficiency|not_provided	MONDO:MONDO:0012582,MedGen:C1970456,OMIM:610921,Orphanet:440402|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.457	0.175679297751	.	0.000599042	0.0004	0	0	0	0	0.0001	0.0033	0.0019	0.000304	47	154602	rs552751331	0.0002	0.0002	0.0001	0.0002	0.0043	0.0002	0.0002	0.0030	0.0025	0	0	0	0	0	0.0043	7.194e-06	0.0003	0.0024	0.0002	0.0002	7.709e-05	0.0002	0.0046	0.0001	9.233e-05	0.0031	0.0026	2.406e-05	0	0	0	0	0	0	0	0.0005	0.0046	0.219	0.19710	T	0.171	0.32568	T	0.51	0.37313	P	0.491	0.47360	P	0.000026	0.55875	D	0.158011	0.995268	0.42614	D	0.065	0.08236	N	-3.18	0.93111	D	-5.39	0.85247	D	0.172	0.24135	0.058	0.83388	D	0.623	0.86738	D	10	0.021826655	0.00531	T	0.175679	0.85168	D	0.457	0.75551	0.371	0.38176	0.826080846998	0.82443	0.7753279826621574	0.77482	0.647531300315	0.58134	0.548421025276	0.45635	T	0.840464	0.96275	D	-0.20104	0.20656	T	-0.066794	0.65855	T	0.137538442050611	0.16061	T	0.893711	0.63166	D	0.19321193	0.41021	0.38244492	0.63230	0.18191598	0.39385	0.30364206	0.56393	-6.402	0.49525	T	0.4143687769581481	0.50416	0.112	0.26074	B	.;.	.;.	3.884201	0.56469	23.7	0.9557369231556192	0.27270	0.97000	0.72113	D	AEFDBI	0.552431	0.56410	D	-0.339378056154319	0.27664	1.519642	-0.253066599010928	0.29665	1.663895	0.0165522585230617	0.12845	0.732398	0.92422	0	0.670034	0.63936	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	6.17	5.21	0.72005	5.735000	0.68231	6.015000	0.52706	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0714:0.0:0.7878:0.1408	9.97	0.40918	628	0.65206	ABC transporter-like|ABC transporter-like|AAA+ ATPase domain;ABC transporter-like|ABC transporter-like|AAA+ ATPase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	729.53	50	chr16	2298532	.	G	A	729.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.18;DP=232;ExcessHet=0;FS=1.088;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.59;ReadPosRankSum=0.807;SOR=0.515	GT:AD:DP:GQ:PL	0/1:21,29:50:99:740,0,540	6	0	1	0
chr16	3015360	3015360	C	G	exonic	CLDN6	.	stoploss	CLDN6:NM_021195:exon2:c.G662C:p.X221S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.7e-05	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs201318784	8.77e-06	8.893e-06	7.17e-06	1.043e-05	0.0002	4.68e-06	3.69e-06	4.73e-06	2.33e-06	0	0	0	0	0	0.0002	7.484e-06	1.777e-05	2.849e-05	6.57e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.29675	N	.	.	.	.	.	.	.	.	.	0.091	0.06990	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.565593	0.00235	T	-0.86682	0.00773	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	1.122157	0.15080	11.57	0.6509231073695072	0.07675	0.49372	0.28418	N	AEFBHCI	.	.	.	0.416514817399105	0.62330	4.44716	0.0940843839544674	0.44250	2.710438	0.999788702096139	0.43007	0.139865	0.03177	0	0.059962	0.00310	0	0.292527	0.05481	0	0.079188	0.02158	0	0.19682	0.30312	4.77	0.065	0.13668	1.034000	0.29811	.	.	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.595000	0.31264	0.0:0.8035:0.0:0.1965	10.428	0.43577	764	0.49969	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.07143	574.63	33	chr16	3015360	.	C	G	574.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.319;DP=190;ExcessHet=0;FS=1.414;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.41;ReadPosRankSum=0.784;SOR=0.469	GT:AD:DP:GQ:PL	0/1:10,23:33:99:585,0,198	6	0	1	0
chr16	3205171	3205171	G	A	exonic	OR1F1	.	nonsynonymous SNV	OR1F1:NM_012360:exon3:c.G925A:p.V309M,OR1F1:NM_001370639:exon4:c.G955A:p.V319M,OR1F1:NM_001370640:exon4:c.G955A:p.V319M,OR1F1:NM_001370641:exon5:c.G925A:p.V309M	.	.	.	.	.	.	.	.	.	.	.	3570536	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.022	0.00409149543801	.	.	8.66e-06	0	0	0	0	0	0	6.412e-05	6.5e-06	1	154602	rs765251088	1.306e-05	1.368e-05	1.502e-05	1.107e-05	0.0002	8.35e-06	6.73e-06	3.001e-05	2.042e-05	0	0	0	0	0	0.0002	9.032e-06	3.329e-05	6.974e-05	1.315e-05	1.314e-05	1.285e-05	1.346e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.18	0.21968	T	0.295	0.20680	T	0.002	0.09854	B	0.002	0.06944	B	0.034173	0.01782	N	2.531040	1	0.08975	N	1.04	0.26193	L	8.19	0.00279	T	-0.18	0.09796	N	0.11	0.09631	-0.9371	0.43072	T	0.001	0.00188	T	10	0.05593592	0.06192	T	0.004091	0.09775	T	0.022	0.04323	0.342	0.33464	0.110078149338	0.10416	0.0599690267401265	0.05936	0.00230504125883	0.00198	0.241143465042	0.02894	T	0.00527	0.04719	T	-0.407767	0.02057	T	-0.722875	0.04658	T	0.0378383159938972	0.03304	T	0.20258	0.02331	T	0.022013327	0.00837	0.03354585	0.02268	0.022013327	0.00837	0.03354585	0.02268	-4.889	0.35611	T	.	.	0.109	0.20663	B	.	.	0.312120	0.06872	3.405	0.32769948656790049	0.01917	0.00122	0.00764	N	AEFDBI	0.019555	0.00689	N	-1.17014777140774	0.05456	0.2487916	-1.17705393656324	0.06295	0.3025474	1.52160499245641E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	4.95	1.37	0.21200	0.569000	0.23342	.	.	-0.378000	0.05405	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.65:0.0:0.1881:0.1619	3.750	0.08087	725	0.54935	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	492.63	54	chr16	3205171	.	G	A	492.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.778;DP=256;ExcessHet=0;FS=1.105;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.12;ReadPosRankSum=-0.308;SOR=0.929	GT:AD:DP:GQ:PL	0/1:32,22:54:99:503,0,764	6	0	1	0
chr16	3224601	3224601	C	G	exonic	ZNF200	.	nonsynonymous SNV	ZNF200:NM_001145446:exon5:c.G476C:p.S159T,ZNF200:NM_001145447:exon5:c.G476C:p.S159T,ZNF200:NM_001145448:exon5:c.G476C:p.S159T,ZNF200:NM_003454:exon5:c.G479C:p.S160T,ZNF200:NM_198087:exon5:c.G476C:p.S159T,ZNF200:NM_198088:exon5:c.G479C:p.S160T	.	.	.	.	.	.	.	.	.	.	.	3631358	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.020	0.00238376039512	.	.	2.541e-05	0	0	0	0	3.05e-05	0	6.736e-05	1.94e-05	3	154602	rs765495787	1.322e-05	1.368e-05	1.379e-05	1.265e-05	0.0002	8.46e-06	6.82e-06	3.073e-05	2.089e-05	0	0	0	0	0	0.0002	9.102e-06	3.375e-05	7.175e-05	1.971e-05	1.97e-05	1.285e-05	2.69e-05	0.0002	5.24e-06	2.45e-06	.	.	0	0	6.547e-05	0	0	0	0	1.47e-05	0	0.0002	0.581	0.06847	T	0.52	0.10465	T	0.275	0.31898	B	0.059	0.26602	B	0.265879	0.15222	N	0.588619	1	0.08975	N	0.755	0.19153	N	3.33	0.06138	T	-0.14	0.11366	N	0.049	0.22357	-0.9478	0.41347	T	0.012	0.04463	T	10	0.061600506	0.07749	T	0.002384	0.04646	T	0.020	0.03691	0.194	0.10571	0.152612264143	0.14878	0.08033527125756784	0.07968	0.00824714859196	0.00747	0.297080993652	0.09967	T	0.015703	0.13121	T	-0.499817	0.00573	T	-0.845671	0.01017	T	0.0126367177783232	0.00211	T	0.39926	0.10706	T	0.03523465	0.04107	0.03910371	0.03927	0.03523465	0.04107	0.03910371	0.03926	-3.784	0.20610	T	.	.	0.133	0.29642	B	.;.;.;.;.;.	.;.;.;.;.;.	0.687568	0.10564	7.270	0.66498761409808294	0.08077	0.00092	0.00608	N	AEFBCI	0.049122	0.08454	N	-0.76039247904343	0.14352	0.7142398	-0.749550660292549	0.15733	0.8289385	6.31013077080377E-4	0.07482	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.05	1.95	0.25130	-0.950000	0.03999	.	.	-0.217000	0.08171	0.000000	0.06391	0.000000	0.08366	0.599000	0.31363	0.1885:0.6228:0.0:0.1887	4.475	0.11151	764	0.49969	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	419.83	26	chr16	3224601	.	C	G	419.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.758;DP=144;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.15;ReadPosRankSum=-1.108;SOR=0.56	GT:AD:DP:GQ:PL	0/1:10,16:26:99:430,0,274	6	0	1	0
chr16	3300458	3300458	G	T	exonic	TIGD7	.	nonsynonymous SNV	TIGD7:NM_033208:exon2:c.C157A:p.L53M	.	.	.	.	.	.	.	.	.	.	.	2446734	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.227	0.00235087372163	.	.	0.0001	0	0	0	0	7.493e-05	0	0.0008	0.0001423	22	154602	rs772278462	9.919e-05	9.919e-05	8.031e-05	0.0001	0.0006	8.578e-05	8.048e-05	0.0005	0.0005	0	0	0	0	0	0.0002	7.014e-05	0.0002	0.0006	5.919e-05	5.912e-05	3.856e-05	8.08e-05	0.0008	3.08e-05	2.212e-05	0.0003	0.0002	0	0	0	0	0	0	0	7.35e-05	0	0.0008	0.036	0.43393	D	0.155	0.92824	T	1.0	0.90584	D	0.997	0.86255	D	0.013500	0.28825	U	0.000000	0.999347	0.21331	N	0.875	0.21512	L	0.78	0.49358	T	-0.56	0.17003	N	0.264	0.29889	-0.9772	0.35638	T	0.179	0.52551	T	10	0.0639402	0.08405	T	0.002351	0.04562	T	0.227	0.52620	.	.	0.0611884634855	0.05136	0.15904922354363255	0.15825	0.234577238011	0.26000	0.606083273888	0.53763	T	0.041927	0.26017	T	-0.402354	0.02235	T	-0.466298	0.25917	T	0.0608807028974357	0.07307	T	0.454055	0.12934	T	0.09572198	0.22533	0.05488703	0.09526	0.09572198	0.22532	0.05488703	0.09525	-4.717	0.33610	T	.	.	0.116	0.23430	B	.;.	.;.	2.757377	0.36155	20.2	0.99258848819929801	0.57155	0.42800	0.26958	N	AEFBI	0.051641	0.09144	N	0.0874379938403863	0.45876	2.83702	0.0435129165539668	0.41760	2.514227	0.274255792827338	0.18924	0.651	0.46895	0	0.708844	0.79440	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	4.29	3.2	0.35826	0.652000	0.24573	.	.	-0.116000	0.14526	0.989000	0.36753	1.000000	0.68203	0.981000	0.58702	0.8748:0.0:0.1252:0.0	5.795	0.17645	784	0.47045	DNA binding HTH domain, Psq-type;DNA binding HTH domain, Psq-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	1145.44	90	chr16	3300458	.	G	T	1145.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.553;DP=269;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.73;ReadPosRankSum=-2.351;SOR=0.668	GT:AD:DP:GQ:PL	0/1:43,47:90:99:1156,0,1148	6	0	1	0
chr16	3356336	3356336	C	A	exonic	OR2C1	.	stopgain	OR2C1:NM_012368:exon1:c.C396A:p.Y132X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002434	0.36574	N	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.139	0.13769	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.288176	0.82005	D	0.176168	0.81773	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	5.472991	0.91297	32	0.99183461907206916	0.54760	0.42146	0.26813	N	AEFDBHCI	0.162545	0.28873	N	-0.0610205848171071	0.39113	2.301294	-0.408842299644395	0.24738	1.356325	0.00250583801210114	0.09486	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.63	0.537	0.16337	0.700000	0.25278	.	.	0.512000	0.23348	0.116000	0.23103	0.000000	0.08366	0.026000	0.12556	0.0:0.5318:0.0:0.4682	7.298	0.25581	659	0.61982	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	144.46	71	chr16	3356336	.	C	A	144.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.983;DP=590;ExcessHet=0;FS=48.75;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=2.03;ReadPosRankSum=2.35;SOR=5.891	GT:AD:DP:GQ:PL	0/1:53,18:71:99:155,0,1293	6	0	1	0
chr16	10472122	10472124	TGT	-	exonic	ATF7IP2	.	nonframeshift deletion	ATF7IP2:NM_024997:exon8:c.1365_1367del:p.V456del,ATF7IP2:NM_001256160:exon9:c.1365_1367del:p.V456del,ATF7IP2:NM_001352120:exon9:c.1365_1367del:p.V456del	.	499	979	36	8	0	52	0.0258706	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0084	0.00499201	0.0096	0.0018	0.0069	0.0001	0.0023	0.0119	0.0113	0.0152	0.0022284	58	26028	rs566280429	0.0090	0.0093	0.0088	0.0093	0.0263	0.0089	0.0088	0.0228	0.0215	0.0018	0.0068	0.0396	5.147e-05	0.0015	0.0263	0.0087	0.0099	0.0146	0.0078	0.0078	0.0081	0.0075	0.0129	0.0074	0.0073	0.0103	0.0095	0.0025	0.0022	0.0081	0.0415	0.0002	0.0018	0.0034	0.0104	0.0099	0.0129	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026741	0.005102	0.023098	0.032164	0.050000	0.043103	0.042945	0.030303	0.07143	997.4	47	chr16	10472121	.	ATGT	A	997.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.311;DP=230;ExcessHet=0;FS=2.509;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=21.22;ReadPosRankSum=1.02;SOR=0.654	GT:AD:DP:GQ:PL	0/1:21,26:47:99:1008,0,783	6	0	1	0
chr16	10694693	10694693	C	T	exonic	TEKT5	.	nonsynonymous SNV	TEKT5:NM_144674:exon1:c.G181A:p.V61I	.	430	1077	15	0	0	15	0.00691563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	.	0.0070	0.00159744	0.0071	0.0011	0.0029	0	0.0089	0.0108	0.0056	0.0020	0.0067205	1039	154602	rs138126929	0.0090	0.0089	0.0091	0.0088	0.0105	0.0088	0.0088	0.0103	0.0102	0.0009	0.0032	0.0054	0	0.0084	0.0021	0.0105	0.0092	0.0015	0.0070	0.0070	0.0077	0.0062	0.0115	0.0066	0.0065	0.0108	0.0106	0.0017	0	0.0063	0.0066	0	0.0069	0	0.0115	0.0057	0.0010	0.308	0.14111	T	0.406	0.14725	T	0.003	0.11197	B	0.002	0.06944	B	0.024995	0.01622	N	2.299810	1	0.08975	N	0.46	0.12951	N	4.11	0.02916	T	-0.49	0.15578	N	0.073	0.04668	-0.9453	0.41764	T	0.005	0.01761	T	10	0.0038414598	0.00073	T	.	.	.	0.015	0.02232	.	.	0.117506650769	0.11410	0.20483342377689734	0.20400	0.0228577877693	0.02315	0.251101672649	0.03885	T	0.012405	0.10910	T	-0.696014	0.00038	T	-0.759579	0.03128	T	0.00117707586328804	0.00011	T	0.255274	0.03954	T	0.029504377	0.02456	0.023197655	0.00334	0.029504377	0.02455	0.023197655	0.00334	-3.69	0.19171	T	.	.	0.068	0.02861	B	.	.	-0.675178	0.01379	0.079	0.84443608144586346	0.15295	0.08805	0.14679	N	AEFBI	0.070489	0.13996	N	-1.38179900226416	0.02809	0.1245622	-1.49804783514101	0.02360	0.1084401	0.964251543770108	0.28747	0.553676	0.25195	0	0.588015	0.36545	0	0.608075	0.38828	0	0.564101	0.26826	0	.	.	4.99	-6.92	0.01485	-0.691000	0.05234	.	.	-0.202000	0.08738	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.192:0.341:0.0944:0.3726	1.764	0.02816	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	0.004028	0.000000	0.002717	0.000000	0.000000	0.008621	0.006098	0.003788	0.07143	572.53	53	chr16	10694693	.	C	T	572.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.16;DP=279;ExcessHet=0;FS=1.043;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.8;ReadPosRankSum=-0.656;SOR=0.536	GT:AD:DP:GQ:PL	0/1:30,23:53:99:583,0,751	6	0	1	0
chr16	19440096	19440096	T	C	exonic	TMC5	.	nonsynonymous SNV	TMC5:NM_001105248:exon3:c.T58C:p.S20P,TMC5:NM_001105249:exon3:c.T58C:p.S20P,TMC5:NM_001261841:exon3:c.T58C:p.S20P,TMC5:NM_001308161:exon3:c.T58C:p.S20P	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	0.0122730834136	0.0017	0.000199681	0.0014	0.0002	0.0008	0	0.0005	0.0021	0	0.0007	0.00152	235	154602	rs146537276	0.0025	0.0025	0.0026	0.0025	0.0030	0.0025	0.0024	0.0029	0.0029	0.0005	0.0010	0.0029	0	0.0004	0.0007	0.0030	0.0023	0.0006	0.0015	0.0015	0.0018	0.0012	0.0026	0.0013	0.0013	0.0023	0.0021	0.0007	0	0.0006	0.0037	0	9.43e-05	0	0.0026	0	0.0006	0.16	0.23721	T	0.177	0.30045	T	0.181	0.36091	B	0.074	0.29521	B	0.000000	0.00162	N	17.052200	1	0.08975	N	2.375	0.68372	M	-0.56	0.74265	T	-0.75	0.21215	N	0.233	0.27554	-0.9023	0.47749	T	0.246	0.61495	T	10	0.007520497	0.00171	T	0.012273	0.30692	T	0.154	0.40340	.	.	0.273503213844	0.26977	0.3173166654607831	0.31644	0.205466867482	0.22964	0.358751922846	0.19203	T	0.01264	0.11071	T	-0.418146	0.01758	T	-0.37108	0.36763	T	0.00972602867284003	0.00127	T	0.69603	0.30552	T	0.15243725	0.34603	0.14221045	0.33840	0.15243725	0.34603	0.14221045	0.33839	-1.451	0.01667	T	.	.	0.085	0.10400	B	.;.;.;.	.;.;.;.	0.790827	0.11611	8.201	0.97879979449795329	0.36594	0.02378	0.06759	N	AEFBI	0.071604	0.14260	N	-0.830842099380813	0.12527	0.611148	-0.897150805472195	0.12161	0.6239586	9.3378165228426E-5	0.04910	0.553676	0.25195	0	0.547309	0.14657	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.15	0.26	0.14844	0.341000	0.19652	-0.652000	0.08023	-0.111000	0.15049	0.001000	0.13787	0.000000	0.08366	0.058000	0.15825	0.0:0.2746:0.1688:0.5566	4.286	0.10301	754	0.51307	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	969.53	80	chr16	19440096	.	T	C	969.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.147;DP=273;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.12;ReadPosRankSum=-0.419;SOR=0.63	GT:AD:DP:GQ:PL	0/1:42,38:80:99:980,0,1117	6	0	1	0
chr16	21404236	21404236	C	-	splicing	NPIPB3	NM_130464:exon10:c.1691+1G>-;NM_130464:exon11:c.1692-1G>-	.	.	.	1479	15	0	28	0	56	0.651163	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	.	.	.	.	0	.	.	0.0004528	70	154602	rs767458164	0.3333	0.0001	1.0000	0	0.5000	0.0592	0.0248	0.0888	0.0371	.	0.5000	.	.	.	.	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	426.24	4	chr16	21404235	.	GC	G	426.24	.	AC=8;AF=1;AN=8;DP=17;ExcessHet=0;FS=0;MLEAC=9;MLEAF=1;MQ=27.33;QD=27.5;SOR=4.977	GT:AD:DP:GQ:PL	1/1:0,4:4:12:150,12,0	0	4	0	3
chr16	27507007	27507007	C	A	exonic	GTF3C1	.	nonsynonymous SNV	GTF3C1:NM_001286242:exon9:c.G1392T:p.E464D,GTF3C1:NM_001520:exon9:c.G1392T:p.E464D	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.00633259676272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.342	0.12632	T	0.498	0.11263	T	0.032	0.20242	B	0.014	0.16862	B	0.003203	0.35270	N	0.246313	0.95792	0.26243	N	1.985	0.53793	M	1.85	0.24472	T	-0.43	0.14390	N	0.082	0.06854	-1.0402	0.17253	T	0.036	0.15683	T	10	0.034306943	0.01634	T	0.006333	0.16639	T	0.092	0.26621	0.07	0.00395	0.2338531098	0.23012	0.6600073570374517	0.65937	0.727662557189	0.62576	0.429952561855	0.29202	T	0.202605	0.56083	T	-0.289136	0.09724	T	-0.653101	0.08738	T	0.127006486058235	0.15102	T	0.637336	0.25103	T	0.028318036	0.02152	0.026200876	0.00697	0.028318036	0.02151	0.026200876	0.00697	-3.678	0.18994	T	0.09420489685848638	0.06279	0.075	0.05579	B	.;.	.;.	1.574050	0.20152	14.61	0.99071135769782781	0.51715	0.72712	0.35581	D	AEFDGBI	0.067989	0.13391	N	-0.510086091813085	0.21752	1.156735	-0.434592236357625	0.23988	1.311181	0.688508868910801	0.22561	0.719381	0.83141	0	0.702456	0.74545	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	4.92	-0.0882	0.13009	0.115000	0.15373	0.244000	0.16344	0.599000	0.40250	0.988000	0.36536	0.180000	0.23413	0.927000	0.46353	0.1275:0.2224:0.234:0.4161	1.408	0.02147	558	0.71484	.;.	.	.	.	.	.	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	713.44	83	chr16	27507007	.	C	A	713.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.363;DP=266;ExcessHet=0;FS=0.845;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.6;ReadPosRankSum=-0.291;SOR=0.569	GT:AD:DP:GQ:PL	0/1:48,35:83:99:724,0,1156	6	0	1	0
chr16	29381691	29381691	G	C	exonic	NPIPB11	.	nonsynonymous SNV	NPIPB11:NM_001310137:exon8:c.C3241G:p.R1081G	.	553	960	1	5	3	14	0.00569653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.00416674162864	.	.	.	.	.	.	.	.	.	.	.	.	.	rs528606058	0.0001	6.51e-05	0.0001	9.738e-05	0.0013	8.036e-05	7.256e-05	0.0003	0.0002	0	7.069e-05	0	0	0	0.0013	0.0001	0.0002	9.88e-05	5.471e-05	4.739e-05	2.05e-05	9.389e-05	6.314e-05	2.099e-05	1.361e-05	1.675e-05	8.64e-06	0	0	0	0	0	0	0	6.314e-05	0.0018	0	0.102	0.30235	T	0.092	0.39954	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.24	0.30952	L	0.24	0.59583	T	-0.96	0.25551	N	0.168	0.17828	-1.0094	0.27105	T	0.089	0.34160	T	5	0.09611273	0.17216	T	0.004167	0.10026	T	0.080	0.23350	0.251	0.18912	0.433823933641	0.42998	0.0020538258508922516	0.00190	.	.	.	.	.	0.012001	0.10618	T	-0.343938	0.05120	T	-0.532826	0.19006	T	0.0840512334389132	0.10497	T	0.473853	0.14122	T	0.09276863	0.21772	0.1569316	0.36719	0.09276863	0.21772	0.1569316	0.36718	-6.945	0.53632	T	.	.	0.358	0.57091	A	.	.	1.864911	0.23687	16.11	0.91891882053020202	0.21210	0.00341	0.01769	N	AEFDI	0.048526	0.08288	N	-0.945013095367644	0.09805	0.4656869	-1.1341917360785	0.07055	0.3417709	7.73663240632492E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	.	.	.	0.089000	0.14843	0.481000	0.18806	0.093000	0.17603	0.024000	0.20007	0.001000	0.17328	0.025000	0.12405	.	.	.	779	0.47767	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	635.63	30	chr16	29381691	.	G	C	635.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.125;DP=190;ExcessHet=0;FS=13.257;MLEAC=1;MLEAF=0.071;MQ=34.51;MQRankSum=0.487;QD=21.19;ReadPosRankSum=-1.733;SOR=1.758	GT:AD:DP:GQ:PL	0/1:5,25:30:94:646,0,94	6	0	1	0
chr16	29810106	29810114	GCAGCGGCA	-	exonic	MAZ	.	nonframeshift deletion	MAZ:NM_001276276:exon3:c.394_402del:p.A141_A143del,MAZ:NM_002383:exon5:c.1309_1317del:p.A446_A448del,MAZ:NM_001276275:exon6:c.1240_1248del:p.A423_A425del	.	329	1048	62	5	78	150	0.0332103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0125	.	0.0097	0.0014	0.0019	0.0059	0.0005	0.0013	0.015	0.0587	3.23e-05	5	154602	rs760562143	0.0044	0.0044	0.0028	0.0060	0.0564	0.0043	0.0043	0.0550	0.0545	0.0009	0.0018	0.0003	0.0031	0.0009	0.0146	0.0009	0.0055	0.0564	0.0034	0.0034	0.0026	0.0042	0.0571	0.0032	0.0031	0.0514	0.0492	0.0010	0	0.0032	0	0.0063	0.0009	0.0252	0.0014	0.0063	0.0571	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1206.59	76	chr16	29810105	.	GGCAGCGGCA	G	1206.59	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.926;DP=269;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.88;ReadPosRankSum=-1.275;SOR=0.611	GT:AD:DP:GQ:PL	0/1:41,35:76:99:1217,0,1571	6	0	1	0
chr16	31916369	31916369	G	A	exonic	ZNF267	.	nonsynonymous SNV	ZNF267:NM_003414:exon4:c.G2120A:p.R707Q,ZNF267:NM_001265588:exon5:c.G2024A:p.R675Q	.	432	1077	11	2	0	15	0.00691563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.000816012745926	0.0014	0.000798722	0.0016	0.0002	0.0011	0.0001	0	0.0024	0.0022	0.0010	0.0014877	230	154602	rs146914846	0.0012	0.0012	0.0012	0.0012	0.0049	0.0012	0.0011	0.0035	0.0030	0.0002	0.0013	0.0144	5.042e-05	9.364e-05	0.0049	0.0009	0.0022	0.0012	0.0012	0.0012	0.0010	0.0014	0.0021	0.0011	0.0010	0.0015	0.0013	0.0004	0	0.0021	0.0122	0	0	0.0104	0.0011	0.0029	0.0017	0.851	0.02732	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999777	0.20412	N	-0.195	0.04202	N	2.26	0.17596	T	0.1	0.05810	N	0.039	0.01274	-0.9207	0.45458	T	0.010	0.03537	T	9	0.0035986304	0.00065	T	8.16E-4	0.00649	T	0.018	0.03083	.	.	0.0611884634855	0.05136	0.021880521238061168	0.02140	0.147075874367	0.16591	0.206648498774	0.00677	T	0.002559	0.01954	T	-0.687862	0.00043	T	-0.78547	0.02292	T	7.20058960723691e-05	0.00001	T	0.433057	0.11799	T	0.015028422	0.00119	0.028979275	0.01186	0.015028422	0.00119	0.028979275	0.01186	-0.836	0.00835	T	.	.	0.085	0.10400	B	.	.	0.543270	0.09120	5.902	0.47951912305285999	0.03962	0.00001	0.00044	N	AEFDBHCI	0.019052	0.00628	N	-1.80176376856197	0.00541	0.02328854	-1.82422774107859	0.00685	0.03046993	0.939816240523632	0.27404	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	0.468	-0.935	0.09893	0.083000	0.14718	.	.	-0.440000	0.05175	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.7045:0.0:0.2955:0.0	4.188	0.09869	680	0.59965	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	0.005035	0.000000	0.005435	0.005848	0.050000	0.000000	0.009146	0.003788	0.07143	1124.44	84	chr16	31916369	.	G	A	1124.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.22;DP=291;ExcessHet=0;FS=4.246;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.39;ReadPosRankSum=-0.358;SOR=1.268	GT:AD:DP:GQ:PL	0/1:42,42:84:99:1135,0,976	6	0	1	0
chr16	48270018	48270018	C	T	exonic	LONP2	.	nonsynonymous SNV	LONP2:NM_001300948:exon6:c.C853T:p.R285C,LONP2:NM_001348078:exon7:c.C985T:p.R329C,LONP2:NM_031490:exon7:c.C985T:p.R329C	.	434	1086	1	1	0	3	0.00137931	.	.	.	2435972	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.101	0.00537639713445	7.7e-05	.	0.0001	0	8.738e-05	0	0	0.0002	0	0	9.06e-05	14	154602	rs377497324	0.0001	0.0001	0.0001	0.0001	0.0003	0.0001	0.0001	6.115e-05	3.041e-05	6.003e-05	2.253e-05	0.0036	0	0	0.0003	4.41e-05	0.0005	4.653e-05	0.0002	0.0002	0.0001	0.0002	0.0001	0.0001	8.727e-05	4.743e-05	3.056e-05	0.0001	0	6.553e-05	0.0032	0	0	0	8.821e-05	0	0	0.121	0.27904	T	0.088	0.40586	T	0.002	0.09854	B	0.001	0.04355	B	0.000049	0.53742	D	0.203518	0.999995	0.58761	D	1.295	0.32453	L	0.98	0.42122	T	-3.64	0.71639	D	0.248	0.28028	-1.0605	0.11632	T	0.099	0.37034	T	10	0.02783528	0.00923	T	0.005376	0.13771	T	0.101	0.28911	.	.	0.71323274049	0.71072	0.3555620230453855	0.35470	0.345560330002	0.36465	0.618086576462	0.55458	T	0.221029	0.58448	T	-0.256196	0.13349	T	-0.424256	0.30588	T	0.074866458773613	0.09317	T	0.939006	0.93576	D	0.19054785	0.40644	0.13460405	0.32250	0.19054785	0.40644	0.13460405	0.32250	-5.226	0.44250	T	.	.	0.087	0.11366	B	.;.	.;.	3.904330	0.56897	23.8	0.99372698351693478	0.61498	0.91818	0.54329	D	AEFBI	0.516953	0.54328	D	0.0334752048305106	0.43383	2.632317	0.222739066673647	0.51111	3.29657	0.984761948308411	0.30771	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.64	5.64	0.86480	2.992000	0.49106	5.932000	0.51336	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.9277:0.0:0.0723	13.938	0.63549	440	0.80101	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	306.33	14	chr16	48270018	.	C	T	306.33	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.874;DP=138;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=21.88;ReadPosRankSum=0.861;SOR=0.76	GT:AD:DP:GQ:PL	0/1:3,11:14:46:316,0,46	5	0	1	1
chr16	51140463	51140463	G	A	exonic	SALL1	.	nonsynonymous SNV	SALL1:NM_001127892:exon2:c.C1468T:p.P490S,SALL1:NM_002968:exon2:c.C1759T:p.P587S	Townes-Brocks branchiootorenal-like syndrome, Autosomal dominant;Townes-Brocks syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	0.0205993900231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	0.35918	T	0.146	0.32891	T	0.911	0.50336	P	0.311	0.41430	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.74	0.80084	M	3.15	0.08106	T	-1.18	0.30140	N	0.344	0.39760	-1.1002	0.04067	T	0.038	0.16333	T	10	0.40818578	0.56040	T	0.020599	0.43227	T	0.204	0.49076	0.298	0.26362	0.134007934775	0.12933	0.3384461282502499	0.33757	0.523255955335	0.50038	0.589487075806	0.51422	T	0.326172	0.69682	T	-0.0526092	0.44051	T	-0.313346	0.43299	T	0.928389251232147	0.59180	D	0.844715	0.52235	T	0.14728716	0.33678	0.15147328	0.35679	0.14728716	0.33677	0.15147328	0.35678	-4.505	0.32096	T	0.2645209029930965	0.35674	0.083	0.09045	B	.;.;.	.;.;.	3.701978	0.52801	23.3	0.99848703288324758	0.92838	0.95501	0.64972	D	AEFDBHCI	0.897492	0.83972	D	0.617839638620612	0.74303	6.109771	0.653708281078943	0.78888	6.967615	0.999999999085693	0.74766	0.631515	0.41029	0	0.547309	0.14657	0	0.697927	0.64325	0	0.613276	0.41899	0	.	.	5.32	5.32	0.75377	8.177000	0.89635	9.969000	0.82849	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.786000	0.37147	0.0:0.0:1.0:0.0	18.996	0.92789	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	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1161.44	76	chr16	51140463	.	G	A	1161.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.242;DP=282;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.28;ReadPosRankSum=-1.771;SOR=0.64	GT:AD:DP:GQ:PL	0/1:31,45:76:99:1172,0,781	6	0	1	0
chr16	55326341	55326346	GGCGTC	-	exonic	IRX6	.	nonframeshift deletion	IRX6:NM_024335:exon2:c.51_56del:p.A20_S21del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.574e-06	6.568e-06	0	1.346e-05	2.414e-05	0	0	.	.	2.414e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	950.79	38	chr16	55326340	.	TGGCGTC	T	950.79	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.308;DP=208;ExcessHet=0;FS=1.378;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=25.02;ReadPosRankSum=0.668;SOR=1.038	GT:AD:DP:GQ:PL	0/1:14,24:38:99:961,0,506	6	0	1	0
chr16	57451045	57451045	C	G	exonic	COQ9	.	nonsynonymous SNV	COQ9:NM_020312:exon2:c.C79G:p.R27G	Coenzyme Q10 deficiency, primary, 5, Autosomal recessive	2	1463	55	2	0	59	0.0197655	.	.	.	211720	COQ9-related_disorder|not_provided|Encephalopathy-hypertrophic_cardiomyopathy-renal_tubular_disease_syndrome	.|MedGen:C3661900|MONDO:MONDO:0013840,MedGen:C3553374,OMIM:614654,Orphanet:319678	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.132	.	0.0005	0.000998403	0.0024	0.0002	0.0026	0	0	0.0013	0.0057	0.0105	0.0020246	313	154602	rs140264612	0.0013	0.0013	0.0010	0.0017	0.0197	0.0013	0.0013	0.0167	0.0156	0.0005	0.0019	0.0039	7.557e-05	0	0.0197	0.0006	0.0018	0.0104	0.0009	0.0009	0.0008	0.0010	0.0087	0.0008	0.0007	0.0066	0.0059	9.632e-05	0	0.0006	0.0035	0	0	0.0272	0.0008	0.0038	0.0087	0.014	0.59928	D	0.055	0.57104	T	0.418	0.35279	B	0.065	0.27321	B	0.810299	0.09256	N	0.918676	0.999131	0.21587	N	2.175	0.60977	M	.	.	.	-2.57	0.84742	D	0.537	0.58968	-1.0003	0.29831	T	0.082	0.32207	T	9	0.00896737	0.00203	T	.	.	.	0.132	0.35948	.	.	0.387689773709	0.38380	0.4378721019580951	0.43704	0.259252817373	0.28482	0.535011053085	0.43740	T	0.070879	0.39639	T	-0.344015	0.05115	T	-0.258968	0.48927	T	0.0228780761383594	0.01010	T	0.831017	0.49766	T	0.15947412	0.35821	0.13199598	0.31684	0.1836086	0.39636	0.15318273	0.36006	-3.83	0.21253	T	.	.	0.069	0.12132	B	.;.;.;.;.;.	.;.;.;.;.;.	1.464020	0.18867	13.97	0.98290489573241691	0.39945	0.11866	0.16912	N	AEFBI	0.179999	0.30729	N	-0.324439954419346	0.28222	1.554889	-0.376808982927053	0.25690	1.414323	0.747359427171746	0.23305	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.2	0.861	0.18186	-0.036000	0.12136	-0.108000	0.11862	0.599000	0.40250	0.038000	0.20882	0.000000	0.08366	0.735000	0.35267	0.2708:0.4678:0.0:0.2613	3.775	0.08177	683	0.59664	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.011581	0.000000	0.017663	0.005848	0.000000	0.017241	0.012195	0.011364	0.07143	354.49	35	chr16	57451045	.	C	G	354.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.71;DP=201;ExcessHet=0;FS=1.387;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.13;ReadPosRankSum=0.05;SOR=1.179	GT:AD:DP:GQ:PL	0/1:19,16:35:99:365,0,410	6	0	1	0
chr16	66925060	66925060	C	T	exonic	RRAD	.	nonsynonymous SNV	RRAD:NM_001128850:exon2:c.G120A:p.M40I,RRAD:NM_004165:exon2:c.G120A:p.M40I	.	444	1069	9	0	0	9	0.0041919	.	.	.	2343267	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.065	0.215254888953	.	.	0.0008	0	0	0	0	0	0	0.0010	2.59e-05	4	154602	rs764978814	0.0001	0.0001	7.734e-05	0.0001	0.0013	8.913e-05	8.34e-05	0.0008	0.0007	0	0	0	0	0	0.0013	7.723e-05	4.31e-05	0.0010	5.92e-05	5.91e-05	5.144e-05	6.732e-05	0.0004	3.08e-05	2.212e-05	7.279e-05	3.341e-05	0	0	0	0	0	0	0	0.0001	0	0.0004	0.502	0.07695	T	0.602	0.07894	T	0.001	0.07471	B	0.002	0.06944	B	0.000000	0.84330	D	0.078689	0.999948	0.51968	D	1.79	0.46772	L	-0.08	0.63911	T	-1.14	0.29323	N	0.558	0.58883	-0.9840	0.34069	T	0.145	0.46895	T	10	0.07116127	0.10452	T	0.215255	0.87499	D	0.065	0.18881	0.319	0.29741	0.641759411539	0.63880	0.41515920431293374	0.41431	1.64548930497	0.89442	0.924835085869	0.98669	D	0.188929	0.54299	T	-0.362877	0.03970	T	-0.329403	0.41535	T	0.16455699552915	0.18202	T	0.759024	0.38317	T	0.5474054	0.69811	0.52511954	0.72564	0.5474054	0.69812	0.52511954	0.72564	-3.566	0.17367	T	.	.	0.802	0.77371	P	.;.	.;.	4.142923	0.62090	24.4	0.99223456643504737	0.55963	0.91496	0.53653	D	ALL	0.850498	0.76733	D	-0.387566083621317	0.25910	1.41015	-0.223929567258161	0.30681	1.729565	0.999999999997258	0.74766	0.437478	0.07067	0	0.552344	0.17405	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	4.38	3.42	0.38259	6.260000	0.72463	7.459000	0.59036	-0.390000	0.05348	1.000000	0.71638	1.000000	0.68203	0.920000	0.45560	0.1454:0.7144:0.1402:0.0	10.909	0.46307	113	0.95418	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	88.27	9	chr16	66925060	.	C	T	88.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1;DP=141;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.81;ReadPosRankSum=-0.464;SOR=0.495	GT:AD:DP:GQ:PL	0/1:5,4:9:98:98,0,147	5	0	1	1
chr16	66932825	66932825	T	G	exonic	CIAO2B	.	nonsynonymous SNV	CIAO2B:NM_016062:exon4:c.A349C:p.M117L	.	426	1095	1	0	0	1	0.000456413	0.0025	0.046	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.130	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs764830209	6.85e-07	2.052e-06	0	1.378e-06	2.249e-05	0	0	.	.	0	2.249e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.33923	T	0.308	0.21812	T	0.0	0.02946	B	0.002	0.06944	B	0.000000	0.84330	D	0.085006	0.996731	0.43384	D	.	.	.	.	.	.	-0.07	0.08033	N	0.338	0.37923	-1.1025	0.03801	T	0.030	0.12717	T	9	0.12833011	0.24411	T	0.00604	0.15787	T	0.130	0.35528	0.465	0.53566	0.0762999501168	0.06990	0.33205141068686805	0.33118	0.439521257904	0.43982	0.710497200489	0.68665	T	0.010877	0.09774	T	-0.137766	0.30247	T	-0.352802	0.38884	T	0.233899886766414	0.22136	T	0.879712	0.59601	D	0.14767073	0.33747	0.16940257	0.38972	0.14767073	0.33746	0.16940257	0.38971	-1.355	0.01492	T	.	.	0.115	0.22861	B	.;.	.;.	2.524018	0.32617	19.10	0.90870244965352887	0.20119	0.76134	0.37317	D	AEFDBCI	0.358383	0.44908	N	-0.685894696881172	0.16423	0.8365953	-0.423694352452711	0.24304	1.330151	0.999918543994287	0.45857	0.706298	0.61202	0	0.685571	0.66316	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	5.25	2.97	0.33479	0.926000	0.28405	5.068000	0.47151	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0773:0.3069:0.6157	6.424	0.20963	123	0.95099	MIP18 family-like;MIP18 family-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	762.46	73	chr16	66932825	.	T	G	762.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.148;DP=250;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.44;ReadPosRankSum=-1.913;SOR=0.767	GT:AD:DP:GQ:PL	0/1:41,32:73:99:773,0,1067	6	0	1	0
chr16	67270751	67270751	G	A	exonic	SLC9A5	.	nonsynonymous SNV	SLC9A5:NM_001323971:exon13:c.G1856A:p.C619Y	.	429	1056	36	1	0	38	0.0176744	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0070	0.00638978	0.0115	0.0021	0.0024	0.0003	0.0062	0.0102	0.0185	0.0424	0.0083117	1285	154602	rs143000650	0.0093	0.0093	0.0087	0.0099	0.0264	0.0092	0.0091	0.0255	0.0251	0.0010	0.0023	0.0050	7.591e-05	0.0045	0.0118	0.0092	0.0088	0.0264	0.0056	0.0056	0.0055	0.0056	0.0243	0.0053	0.0051	0.0207	0.0194	0.0014	0.0033	0.0027	0.0035	0.0004	0.0024	0	0.0086	0.0024	0.0243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.012085	0.025253	0.005435	0.005848	0.000000	0.008621	0.018293	0.022727	0.07143	583.49	38	chr16	67270751	.	G	A	583.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.779;DP=214;ExcessHet=0;FS=3.227;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.35;ReadPosRankSum=1.22;SOR=0.316	GT:AD:DP:GQ:PL	0/1:17,21:38:99:594,0,518	6	0	1	0
chr16	67304454	67304454	A	T	exonic	KCTD19	.	nonsynonymous SNV	KCTD19:NM_001100915:exon3:c.T418A:p.S140T	.	424	1061	36	1	0	38	0.0175926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.182	.	0.0071	0.00658946	0.0087	0.0015	0.0018	0.0002	0.0047	0.0079	0.0144	0.0270	0.0084216	1302	154602	rs143573730	0.0094	0.0094	0.0087	0.0100	0.0266	0.0092	0.0092	0.0257	0.0253	0.0010	0.0023	0.0050	7.557e-05	0.0046	0.0123	0.0092	0.0088	0.0266	0.0056	0.0056	0.0056	0.0056	0.0245	0.0053	0.0052	0.0209	0.0195	0.0014	0.0033	0.0027	0.0035	0.0004	0.0023	0	0.0087	0.0024	0.0245	0.007	0.59928	D	0.111	0.37173	T	0.985	0.61118	D	0.542	0.48916	P	0.001385	0.39175	N	0.116318	0.921889	0.27273	N	0.895	0.22405	L	0.14	0.60854	T	-0.65	0.18877	N	0.375	0.41656	-0.8979	0.48205	T	0.114	0.40513	T	10	0.006156385	0.00139	T	.	.	.	0.182	0.45420	.	.	0.78800085046	0.78603	0.7784897433197607	0.77798	0.837338821554	0.67864	0.76940703392	0.77336	T	0.019758	0.15682	T	-0.426939	0.01547	T	-0.365095	0.37462	T	0.0246198427217777	0.01224	T	0.688231	0.29741	T	0.16197774	0.36243	0.16115986	0.37501	0.15422364	0.34918	0.16115986	0.37500	-3.83	0.21253	T	.	.	0.108	0.20313	B	.	.	3.664333	0.52068	23.2	0.99360921978537375	0.60987	0.93602	0.58667	D	AEFBI	0.485667	0.52516	N	0.31610546893752	0.56975	3.863271	0.390190990393839	0.60959	4.289605	0.999997023525818	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.87	5.87	0.94266	2.614000	0.46024	11.312000	0.92460	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	1.0:0.0:0.0:0.0	13.629	0.61651	34	0.98095	.	PLEKHG4|PLEKHG4|SLC7A6	Brain_Cerebellum|Brain_Cortex|Thyroid	.	.	.	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	0.010628	0.015464	0.004076	0.005882	0.000000	0.008621	0.021605	0.022901	0.07143	473.49	59	chr16	67304454	.	A	T	473.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.639;DP=241;ExcessHet=0;FS=1.07;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.03;ReadPosRankSum=-0.317;SOR=0.475	GT:AD:DP:GQ:PL	0/1:38,21:59:99:484,0,1119	6	0	1	0
chr16	68214404	68214404	G	A	exonic	NFATC3	.	nonsynonymous SNV	NFATC3:NM_004555:exon10:c.G3182A:p.C1061Y	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.0124022179661	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.52	0.10465	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	3.18	0.07478	T	-0.41	0.14000	N	0.318	0.35832	-0.9787	0.35299	T	0.013	0.05225	T	9	0.14463878	0.27446	T	0.012402	0.30939	T	0.062	0.17934	0.446	0.50466	0.0934897674506	0.08844	.	.	.	.	.	.	.	.	.	.	-0.256143	0.13356	T	-0.605708	0.12335	T	0.266684752807978	0.23605	T	0.483852	0.14720	T	.	.	.	.	.	.	.	.	-3.892	0.22182	T	.	.	0.171	0.37520	B	.	.	1.343375	0.17498	13.20	0.67512549268135702	0.08377	0.63090	0.31981	D	AEFDGBHI	0.114550	0.22558	N	-0.346122278223329	0.27415	1.50393	-0.164436091828691	0.32856	1.873502	0.811696965577314	0.24367	0.615465	0.37627	0	0.614415	0.52539	0	0.566861	0.19136	0	0.655142	0.61905	0	.	.	6.06	2.34	0.28071	0.257000	0.18137	2.264000	0.31782	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.997000	0.79791	0.2552:0.0:0.5803:0.1645	4.727	0.12326	12	0.98946	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1007.45	105	chr16	68214404	.	G	A	1007.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.299;DP=294;ExcessHet=0;FS=1.582;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.59;ReadPosRankSum=1.47;SOR=0.847	GT:AD:DP:GQ:PL	0/1:59,46:105:99:1018,0,1321	6	0	1	0
chr16	70132237	70132237	A	G	exonic	PDPR	.	nonsynonymous SNV	PDPR:NM_001322118:exon7:c.A634G:p.I212V,PDPR:NM_001322117:exon9:c.A934G:p.I312V,PDPR:NM_017990:exon9:c.A934G:p.I312V	.	418	1085	19	0	0	19	0.00867976	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	.	.	.	0.0024	0.0161	0.0012	0	0	0.0004	0.0056	0.0052	0.0019728	305	154602	rs200212343	0.0003	0.0007	0.0002	0.0004	0.0028	0.0003	0.0003	0.0025	0.0024	0.0009	0.0003	0.0005	5.038e-05	0	0.0023	9.715e-05	0.0006	0.0028	0.0002	0.0003	0.0002	0.0003	0.0027	0.0002	0.0001	0.0016	0.0013	4.81e-05	0	0.0001	0.0009	0	0	0	0.0002	0.0014	0.0027	1.0	0.00964	T	1.0	0.01155	T	0.025	0.19245	B	0.019	0.18783	B	0.000000	0.84330	D	0.050662	0.999626	0.47904	D	1.11	0.28643	L	1.69	0.27032	T	0.44	0.03243	N	0.519	0.54932	-1.0736	0.08639	T	0.031	0.13155	T	10	0.010658145	0.00236	T	.	.	.	0.056	0.15993	.	.	0.366466682447	0.36252	0.46028569994023094	0.45946	0.384480209222	0.39746	0.501907587051	0.39094	T	0.018119	0.34819	T	-0.173895	0.24648	T	-0.487565	0.23645	T	0.0139654405173654	0.00268	T	0.922108	0.71672	D	0.03260917	0.03319	0.04228881	0.05003	0.03260917	0.03319	0.04228881	0.05003	-5.65	0.43246	T	.	.	0.077	0.08033	B	.;.;.	.;.;.	1.922213	0.24416	16.39	0.49956463330930956	0.04300	0.68614	0.33869	D	AEFDBHCI	0.430191	0.49300	N	-0.587404041057041	0.19327	1.010584	-0.367217833693819	0.25982	1.432211	0.00141110113601005	0.08519	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.16	4.05	0.46415	4.032000	0.56985	5.196000	0.47916	0.645000	0.52629	0.999000	0.42656	1.000000	0.68203	0.997000	0.79791	0.6837:0.3163:0.0:0.0	11.065	0.47190	198	0.92335	FAD dependent oxidoreductase;FAD dependent oxidoreductase;FAD dependent oxidoreductase	.	.	.	.	.	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	0.005539	0.000000	0.009511	0.002924	0.000000	0.008621	0.000000	0.011364	0.07143	309.49	51	chr16	70132237	.	A	G	309.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.28;DP=225;ExcessHet=0;FS=1.128;MLEAC=1;MLEAF=0.071;MQ=57.52;MQRankSum=-0.771;QD=6.07;ReadPosRankSum=0.187;SOR=0.87	GT:AD:DP:GQ:PL	0/1:33,18:51:99:320,0,881	6	0	1	0
chr16	70177319	70177319	G	A	exonic	CLEC18C	.	nonsynonymous SNV	CLEC18C:NM_173619:exon4:c.G295A:p.G99S	.	433	1068	21	0	0	21	0.00973574	.	.	.	3660427	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.009	0.00229342874219	.	.	5.955e-05	0	0.0002	0	0	7.557e-05	0	0	7.68e-05	2	26028	rs776843053	0.0001	0.0005	0.0001	0.0001	0.0010	0.0001	0.0001	0.0007	0.0006	0.0010	8.972e-05	0.0001	2.539e-05	0	0.0006	6.661e-05	0.0009	0.0001	0.0001	0.0002	0.0001	0.0001	0.0009	7.355e-05	6.063e-05	0.0003	0.0002	0.0002	0	0	0.0003	0	0	0	4.497e-05	0.0005	0.0009	0.824	0.17584	T	0.721	0.12957	T	0.059	0.23051	B	0.025	0.20508	B	0.380192	0.04415	N	1.337120	1	0.08975	N	1.385	0.34509	L	3.12	0.08898	T	0.22	0.04694	N	0.144	0.14480	-0.9987	0.30283	T	0.036	0.15422	T	10	0.052730262	0.05352	T	0.002293	0.04397	T	0.017	0.02790	.	.	0.043077524339	0.03247	0.1883476226636304	0.18752	.	.	.	.	.	0.012624	0.11064	T	-0.297012	0.08945	T	-0.664413	0.07972	T	0.0259131440635412	0.01394	T	0.432757	0.11777	T	0.026957333	0.01821	0.034152143	0.02431	0.026957333	0.01821	0.034152143	0.02431	-2.428	0.05307	T	.	.	0.066	0.02173	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.135741	0.03435	0.629	0.3990226419411706	0.02783	0.03713	0.08999	N	AEFDI	0.067744	0.13331	N	-1.00973544960941	0.08401	0.3937751	-1.17016678467506	0.06413	0.3086307	4.28208711897542E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.67	-3.42	0.04521	-0.273000	0.08580	-0.286000	0.10231	0.368000	0.20244	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.413:0.0:0.236:0.351	2.748	0.04947	162	0.93704	CAP domain|CAP domain;CAP domain|CAP domain;CAP domain|CAP domain;.;CAP domain|CAP domain;CAP domain|CAP domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1427.44	185	chr16	70177319	.	G	A	1427.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.207;DP=715;ExcessHet=0;FS=0.645;MLEAC=1;MLEAF=0.071;MQ=37.15;MQRankSum=-4.424;QD=7.72;ReadPosRankSum=-1.79;SOR=0.599	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:140,45:185:99:0|1:70177319_G_A:1438,0,5698:70177319	6	0	1	0
chr16	70177328	70177328	C	T	exonic	CLEC18C	.	nonsynonymous SNV	CLEC18C:NM_173619:exon4:c.C304T:p.R102C	.	429	1071	22	0	0	22	0.0101664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.00741372403503	.	0.000199681	4.677e-05	0	0.0001	0.0003	0	2.847e-05	0	0	3.84e-05	1	26028	rs533214847	5.895e-05	0.0004	5.726e-05	6.065e-05	0.0011	4.886e-05	4.505e-05	0.0009	0.0008	5.989e-05	6.724e-05	0.0001	0.0011	0	0.0005	1.35e-05	8.314e-05	0.0001	6.023e-05	0.0002	5.228e-05	6.857e-05	0.0006	3.129e-05	2.347e-05	0.0002	9.227e-05	0	0	0	0.0003	0.0004	0	0	1.481e-05	0.0010	0.0006	0.039	0.45393	D	0.107	0.45110	T	0.895	0.49247	P	0.448	0.46037	P	0.084338	0.02388	N	1.740020	1	0.08975	N	1.865	0.49290	L	3.13	0.10008	T	-1.48	0.36189	N	0.205	0.24260	-1.0177	0.24463	T	0.022	0.09330	T	10	0.09364423	0.16588	T	0.007414	0.19657	T	0.157	0.40909	.	.	0.043077524339	0.03247	0.2397432577910385	0.23888	.	.	.	.	.	0.014358	0.12236	T	-0.00945993	0.50340	T	-0.251365	0.49682	T	0.729884922504425	0.42204	D	0.765423	0.39305	T	0.08999967	0.21046	0.049599133	0.07614	0.08999967	0.21045	0.049599133	0.07614	-8.191	0.62365	D	.	.	0.127	0.32030	B	.;.;.;.;.;.	.;.;.;.;.;.	1.321434	0.17257	13.05	0.99629999369341704	0.75959	0.03734	0.09030	N	AEFDI	0.093056	0.18832	N	-0.597350344341462	0.19025	0.9924862	-0.7475599950126	0.15782	0.8317537	2.14520971887058E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.89	1.85	0.24418	-0.236000	0.09019	0.233000	0.16214	0.324000	0.19419	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1692:0.5629:0.2679:0.0	6.173	0.19644	162	0.93704	CAP domain|CAP domain;CAP domain|CAP domain;CAP domain|CAP domain;.;CAP domain|CAP domain;CAP domain|CAP domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1539.44	196	chr16	70177328	.	C	T	1539.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.177;DP=915;ExcessHet=0;FS=1.309;MLEAC=1;MLEAF=0.071;MQ=37.69;MQRankSum=-4.174;QD=7.85;ReadPosRankSum=-1.621;SOR=0.553	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:146,50:196:99:0|1:70177319_G_A:1550,0,5847:70177319	6	0	1	0
chr16	70466898	70466898	C	T	exonic	FCSK	.	nonsynonymous SNV	FCSK:NM_145059:exon6:c.C428T:p.P143L	.	420	1099	3	0	0	3	0.00136302	.	.	.	2869648	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.306	0.0856949305676	.	.	4.203e-05	0	0	0	0	4.565e-05	0.0011	6.13e-05	5.17e-05	8	154602	rs572099494	6.98e-05	6.977e-05	6.809e-05	7.153e-05	0.0001	5.848e-05	5.459e-05	4.907e-05	3.165e-05	0	6.711e-05	0.0009	0.0001	1.883e-05	0	1.979e-05	0.0007	3.479e-05	0.0001	0.0001	0.0002	9.397e-05	0.0003	9.735e-05	8.25e-05	8.87e-05	5.282e-05	2.405e-05	0	0.0003	0.0014	0.0002	0	0	1.47e-05	0.0047	0	0.006	0.61437	D	0.007	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.62	0.76659	M	1.41	0.33412	T	-5.48	0.85921	D	0.642	0.65416	-0.8045	0.54879	T	0.203	0.56031	T	10	0.5401778	0.63674	D	0.085695	0.74586	D	0.306	0.62729	0.656	0.79379	0.564503807532	0.56114	0.6831610654957836	0.68255	0.382062709471	0.39545	0.656060993671	0.60846	T	0.337706	0.70706	T	-0.00425839	0.51066	T	-0.0680465	0.65765	T	0.682997524738312	0.39925	D	0.934107	0.82627	D	0.39078552	0.60088	0.39988333	0.64539	0.39078552	0.60088	0.39988333	0.64539	-9.868	0.73118	D	.	.	0.246	0.55438	B	.;.;.;.	.;.;.;.	5.629503	0.92664	32	0.99861905153867925	0.94002	0.98331	0.81705	D	AEFDBIJ	0.692215	0.65195	D	0.775278679186593	0.84539	8.316	0.748112568811509	0.86016	8.756349	0.999999999976052	0.74766	0.646311	0.45356	0	0.601575	0.49859	0	0.645312	0.48771	0	0.491896	0.07777	0	.	.	5.24	5.24	0.72863	7.007000	0.76083	7.577000	0.60860	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.673000	0.33338	0.0:1.0:0.0:0.0	19.203	0.93705	106	0.95650	L-fucokinase;L-fucokinase;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	567.63	50	chr16	70466898	.	C	T	567.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.39;DP=223;ExcessHet=0;FS=1.093;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.35;ReadPosRankSum=-1.593;SOR=0.748	GT:AD:DP:GQ:PL	0/1:26,24:50:99:578,0,555	6	0	1	0
chr16	71069386	71069386	G	A	exonic	HYDIN	.	nonsynonymous SNV	HYDIN:NM_001198542:exon14:c.C1936T:p.H646Y,HYDIN:NM_001198543:exon14:c.C1906T:p.H636Y,HYDIN:NM_001270974:exon14:c.C1855T:p.H619Y,HYDIN:NM_017558:exon14:c.C1855T:p.H619Y	Ciliary dyskinesia, primary, 5, Autosomal recessive	2	1492	27	1	0	29	0.00962496	.	.	.	2817733	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.013	0.00217146394401	0.0012	0.000599042	0.0012	0.0004	0.0011	0	0.0003	0.0017	0.0011	0.0007	0.0008837	23	26028	rs144124863	0.0010	0.0010	0.0009	0.0010	0.0090	0.0009	0.0009	0.0071	0.0064	0.0002	0.0016	0.0081	0	0.0002	0.0090	0.0008	0.0020	0.0006	0.0011	0.0011	0.0011	0.0011	0.0018	0.0009	0.0009	0.0013	0.0011	0.0003	0	0.0018	0.0098	0	0	0.0170	0.0011	0.0033	0.0010	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.088968	0.02434	N	2.572970	1	0.08975	N	-1.1	0.00987	N	5.6	0.05989	T	-0.36	0.13035	N	0.087	0.06454	-0.9837	0.34140	T	0.010	0.03492	T	10	0.0025181174	0.00038	T	0.002171	0.04071	T	0.013	0.01715	.	.	0.0666544352282	0.05500	0.10813125051761875	0.10742	.	.	0.301112771034	0.10566	T	0.038342	0.24807	T	-0.60264	0.00141	T	-0.668506	0.07704	T	0.00890760338183509	0.00111	T	.	.	.	0.033103418	0.03464	0.04666248	0.06552	0.03027777	0.02663	0.046069797	0.06338	-6.149	0.49587	T	.	.	0.071	0.04041	B	.;.;.;.;.	.;.;.;.;.	-0.888746	0.00944	0.036	0.15403906447541041	0.00375	0.02540	0.07059	N	AEFDBCI	0.045511	0.07451	N	-2.16966490958107	0.00090	0.003832085	-2.17309161829622	0.00129	0.00565431	0.999999981858464	0.74766	0.446893	0.09132	0	0.563428	0.19063	0	0.463624	0.06942	0	0.613276	0.41899	0	.	.	4.98	-8.22	0.00910	-0.767000	0.04826	0.122000	0.14930	-0.957000	0.01998	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.1356:0.305:0.0816:0.4778	3.155	0.06112	679	0.60090	.;.;.;.;.	.	.	.	.	.	Likely benign	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	0.007553	0.000000	0.012228	0.005848	0.000000	0.000000	0.009146	0.003788	0.07143	676.49	68	chr16	71069386	.	G	A	676.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.761;DP=246;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=45.67;MQRankSum=-4.689;QD=9.95;ReadPosRankSum=0.767;SOR=0.709	GT:AD:DP:GQ:PL	0/1:35,33:68:99:687,0,809	6	0	1	0
chr16	72811612	72811612	C	T	exonic	ZFHX3	.	nonsynonymous SNV	ZFHX3:NM_001164766:exon6:c.G1087A:p.V363M,ZFHX3:NM_006885:exon7:c.G3829A:p.V1277M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.593	0.126351335839	.	.	8.826e-06	0	0	0	0	1.55e-05	0	0	6.5e-06	1	154602	rs750527365	2.745e-06	2.736e-06	1.364e-06	4.142e-06	2.704e-06	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.704e-06	1.661e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000397	0.44960	D	0.000000	1	0.81001	D	2.49	0.72568	M	-1.24	0.78967	T	-2.61	0.56144	D	0.702	0.71055	0.201	0.85927	D	0.598	0.85661	D	10	0.7696519	0.76979	D	0.126351	0.80800	D	0.593	0.83802	0.463	0.53242	0.473786764527	0.47009	0.36793901568997306	0.36707	0.423927710588	0.42835	0.900854289532	0.96535	D	0.356367	0.72323	T	0.215761	0.75374	D	0.0876347	0.76087	D	0.969671845436096	0.68674	D	0.976402	0.94055	D	0.41208783	0.61561	0.46056476	0.68670	0.41208783	0.61562	0.46056476	0.68670	-7.59	0.60865	D	.	.	0.993	0.94731	P	.;.;.	.;.;.	5.418400	0.90661	31	0.99795513063953045	0.88106	0.98438	0.82779	D	AEFBHI	0.863471	0.78201	D	0.832970597920869	0.88118	9.459859	0.840224646187193	0.92432	11.42295	0.999999999999953	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.565031	0.19037	0	0.635551	0.53088	0	.	.	5.67	5.67	0.87673	7.905000	0.86479	7.680000	0.65243	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.722	0.96142	158	0.93861	.;.;.	.	.	.	.	.	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	414.45	29	chr16	72811612	.	C	T	414.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.28;DP=214;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.29;ReadPosRankSum=-0.461;SOR=0.741	GT:AD:DP:GQ:PL	0/1:13,16:29:99:425,0,301	6	0	1	0
chr16	78022661	78022661	T	G	exonic	CLEC3A	.	nonsynonymous SNV	CLEC3A:NM_005752:exon1:c.T35G:p.V12G	.	434	1082	4	2	0	8	0.00368324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.0158925621706	.	.	0.0001	0	8.673e-05	0	0	3.002e-05	0.0011	0.0007	9.7e-05	15	154602	rs760496672	9.166e-05	9.166e-05	6.806e-05	0.0001	0.0009	7.89e-05	7.365e-05	0.0007	0.0007	0	0	3.826e-05	0	1.872e-05	0.0002	4.406e-05	6.623e-05	0.0009	4.598e-05	4.593e-05	1.285e-05	8.06e-05	0.0010	2.108e-05	1.526e-05	0.0004	0.0003	0	0	0	0	0	0	0	2.94e-05	0	0.0010	.	.	.	0.036	0.52060	D	.	.	.	.	.	.	0.010079	0.30079	N	0.289408	0.999197	0.46300	D	.	.	.	3.04	0.08810	T	.	.	.	0.44	0.47857	-0.9799	0.35025	T	0.130	0.43968	T	9	0.06961158	0.10013	T	0.015893	0.36869	T	0.099	0.28413	.	.	0.18995819373	0.18626	.	.	0.00224187038655	0.00188	0.383359611034	0.22732	T	.	.	.	-0.369609	0.03614	T	-0.397609	0.33663	T	0.335046827793121	0.26427	T	0.505449	0.15971	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.069941	0.60461	24.2	0.99240312211607939	0.56533	0.95699	0.65780	D	AEFDBI	0.557926	0.56735	D	-0.0565258205195075	0.39311	2.316164	0.111590079757284	0.45140	2.782553	0.920310567306153	0.26628	0.553676	0.25195	0	0.573888	0.26702	0	0.596394	0.31383	0	0.620846	0.47308	0	.	.	5.71	4.6	0.56512	5.256000	0.65286	7.877000	0.72286	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.969000	0.54022	0.1314:0.0:0.0:0.8686	11.830	0.51565	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	704.63	57	chr16	78022661	.	T	G	704.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.98;DP=246;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.36;ReadPosRankSum=1.51;SOR=0.765	GT:AD:DP:GQ:PL	0/1:30,27:57:99:715,0,685	6	0	1	0
chr16	81165870	81165870	C	T	exonic	PKD1L2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	610.49	61	chr16	81165870	.	C	T	610.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.559;DP=339;ExcessHet=0;FS=0.968;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.01;ReadPosRankSum=1.52;SOR=0.551	GT:AD:DP:GQ:PL	0/1:34,27:61:99:621,0,790	6	0	1	0
chr16	84439475	84439475	A	G	exonic	ATP2C2	.	nonsynonymous SNV	ATP2C2:NM_001291454:exon10:c.A707G:p.N236S,ATP2C2:NM_001286527:exon13:c.A1160G:p.N387S,ATP2C2:NM_014861:exon13:c.A1160G:p.N387S	.	434	1078	10	0	0	10	0.00461681	.	.	.	3213947	ATP2C2-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.579	0.148471823982	0.0003	0.000399361	0.0005	0.0001	0.0002	0	0	0.0007	0.0011	0.0008	0.0005498	85	154602	rs200192229	0.0007	0.0007	0.0007	0.0007	0.0008	0.0006	0.0006	0.0006	0.0006	8.961e-05	0.0007	0.0049	0	1.872e-05	0.0007	0.0006	0.0011	0.0008	0.0006	0.0006	0.0006	0.0006	0.0014	0.0005	0.0005	0.0009	0.0008	0.0002	0	0.0014	0.0046	0	0	0	0.0007	0.0019	0.0002	0.001	0.78490	D	0.009	0.66756	D	1.0	0.90584	D	1.0	0.97372	D	0.000056	0.53742	D	0.076072	0.999037	0.45921	D	3.29	0.90338	M	-1.04	0.76561	T	-4.86	0.81187	D	0.89	0.89242	0.472	0.90145	D	0.694	0.89437	D	10	0.17317587	0.32130	T	0.148472	0.83039	D	0.579	0.83024	.	.	0.56369308836	0.56033	0.8301570809571298	0.82974	.	.	0.664507508278	0.62054	T	0.664919	0.89988	D	-0.199344	0.20898	T	-0.148275	0.59397	T	0.288498282432556	0.24527	T	0.994101	0.98044	D	0.20973328	0.43249	0.27924207	0.53891	0.20973328	0.43249	0.27924207	0.53890	-8.962	0.67452	D	0.7190167671081512	0.79996	0.116	0.29032	B	.;.	.;.	4.928108	0.81231	27.5	0.99642906991834945	0.76756	0.97982	0.78620	D	AEFDBIJ	0.861602	0.77971	D	0.483337476998605	0.66117	4.908836	0.340607255571958	0.57945	3.962281	0.99961679670128	0.40981	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	4.91	3.8	0.42887	8.488000	0.90299	11.215000	0.89546	-0.083000	0.16234	1.000000	0.71638	1.000000	0.68203	0.328000	0.25156	0.8443:0.1557:0.0:0.0	11.076	0.47248	982	0.03397	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.007576	0.07143	1371.46	120	chr16	84439475	.	A	G	1371.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.819;DP=692;ExcessHet=0;FS=3.3;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.43;ReadPosRankSum=-1.14;SOR=1.004	GT:AD:DP:GQ:PL	0/1:62,58:120:99:1382,0,1622	6	0	1	0
chr16	88429428	88429428	C	T	exonic	ZNF469	.	nonsynonymous SNV	ZNF469:NM_001367624:exon3:c.C1958T:p.P653L	Brittle cornea syndrome 1, Autosomal recessive	9	1511	2	0	0	2	0.000661376	.	.	YES	1843296	Cardiovascular_phenotype|not_provided	MedGen:CN230736|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.054	0.884103422702	.	.	.	.	.	.	.	.	.	.	.	.	.	rs780409854	0.0001	0.0001	0.0001	0.0001	0.0001	0.0001	9.491e-05	0.0001	0.0001	3.179e-05	0	0	0	0	0	0.0001	3.467e-05	0	3.288e-05	3.281e-05	1.286e-05	5.383e-05	0.0002	1.262e-05	7.98e-06	1.974e-05	1.126e-05	0	0	0	0	0.0002	0	0	5.889e-05	0	0	0.059	0.38633	T	0.009	0.66756	D	.	.	.	.	.	.	.	.	.	.	0.763027	0.29519	N	.	.	.	2.34	0.16351	T	-2.89	0.60665	D	0.205	0.22742	-1.0938	0.04929	T	0.037	0.16029	T	9	0.20585647	0.36827	T	0.884103	0.99118	D	0.054	0.15330	0.178	0.08503	0.373897652646	0.36997	0.1395164571160485	0.13874	.	.	0.473594605923	0.35175	T	0.025	0.18723	T	-0.378183	0.03199	T	-0.579973	0.14547	T	0.289122822989275	0.24553	T	0.662434	0.27137	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.14108	B	.;.	.;.	2.482015	0.32005	18.91	0.9938697146136164	0.62157	0.18789	0.20403	N	AEFBI	0.124979	0.24128	N	-0.191196643621473	0.33500	1.901256	-0.29990962936568	0.28102	1.564247	0.999026633699177	0.38237	0.580535	0.33130	0	0.547309	0.14657	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	4.34	3.3	0.36912	0.993000	0.29281	1.572000	0.27423	0.537000	0.25018	0.001000	0.13787	0.354000	0.24487	0.010000	0.09038	0.1837:0.7157:0.0:0.1005	6.450	0.21100	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	46	chr16	88429428	.	C	T	522.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.42;DP=276;ExcessHet=0;FS=2.55;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.36;ReadPosRankSum=0.473;SOR=0.805	GT:AD:DP:GQ:PL	0/1:23,23:46:99:533,0,581	6	0	1	0
chr16	89281033	89281033	G	A	exonic	ANKRD11	.	nonsynonymous SNV	ANKRD11:NM_001256183:exon9:c.C5509T:p.P1837S,ANKRD11:NM_013275:exon9:c.C5509T:p.P1837S,ANKRD11:NM_001256182:exon10:c.C5509T:p.P1837S	KBG syndrome, Autosomal dominant	0	1478	43	1	0	45	0.014995	.	.	.	580086	ANKRD11-related_disorder|not_provided|Inborn_genetic_diseases|not_specified|KBG_syndrome	.|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050,Orphanet:2332	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.019	.	0.0042	0.00199681	0.0040	0.0008	0.0038	0	0.0038	0.0055	0.0059	0.0022	0.0038551	596	154602	rs145906515	0.0032	0.0033	0.0031	0.0033	0.0325	0.0032	0.0031	0.0287	0.0272	0.0012	0.0050	0.0141	0	0.0048	0.0325	0.0028	0.0051	0.0022	0.0040	0.0040	0.0041	0.0039	0.0093	0.0037	0.0036	0.0081	0.0076	0.0007	0	0.0093	0.0156	0	0.0024	0.0850	0.0045	0.0109	0.0010	0.38	0.11191	T	0.811	0.03933	T	0.002	0.09854	B	0.003	0.08700	B	0.064985	0.21913	N	0.385555	1	0.08975	N	1.445	0.36358	L	1.3	0.35590	T	-0.1	0.08495	N	0.056	0.05542	-1.0053	0.28368	T	0.025	0.10688	T	10	0.0031891763	0.00054	T	.	.	.	0.019	0.03383	.	.	0.213499824651	0.20940	0.03753617685181097	0.03699	0.0990860901721	0.11200	0.280230402946	0.07524	T	0.062284	0.31875	T	-0.651348	0.00071	T	-0.704387	0.05589	T	0.00249692265642688	0.00026	T	0.715028	0.32735	T	0.02164385	0.00778	0.030817764	0.01587	0.023787895	0.01150	0.04176469	0.04822	-3.505	0.16501	T	.	.	0.081	0.08465	B	.;.;.	.;.;.	1.313788	0.17173	13.00	0.89837487977274233	0.19145	0.11940	0.16959	N	AEFBCI	0.048531	0.08291	N	-1.211134778551	0.04837	0.2191572	-1.22349443315435	0.05534	0.2639546	0.994268546997177	0.33559	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.59	-1.28	0.08834	0.906000	0.28140	2.752000	0.34542	0.670000	0.69193	0.116000	0.23103	0.987000	0.30940	0.005000	0.06747	0.2829:0.4378:0.2793:0.0	5.962	0.18540	819	0.41190	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.029708	0.035354	0.029891	0.061404	0.000000	0.025862	0.021341	0.003788	0.07143	1189.45	103	chr16	89281033	.	G	A	1189.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.12;DP=295;ExcessHet=0;FS=2.601;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.55;ReadPosRankSum=2.12;SOR=0.442	GT:AD:DP:GQ:PL	0/1:58,45:103:99:1200,0,1622	6	0	1	0
chr16	89284747	89284747	T	A	exonic	ANKRD11	.	nonsynonymous SNV	ANKRD11:NM_001256183:exon9:c.A1795T:p.R599W,ANKRD11:NM_013275:exon9:c.A1795T:p.R599W,ANKRD11:NM_001256182:exon10:c.A1795T:p.R599W	KBG syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.0644850323704	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.014	0.62352	D	0.999	0.77913	D	0.924	0.65913	D	0.000015	0.62929	D	0.107769	0.966023	0.38504	D	2.08	0.57402	M	1.08	0.39401	T	-3.63	0.69714	D	0.339	0.38027	-0.8506	0.51926	T	0.179	0.52520	T	10	0.2862172	0.46204	T	0.064485	0.69290	D	0.176	0.44373	0.293	0.25560	0.317526407968	0.31361	0.03854498775245508	0.03800	0.461749125381	0.45718	0.428896546364	0.29058	T	0.597679	0.87059	D	-0.0733161	0.40796	T	-0.34309	0.39995	T	0.975876033306122	0.71128	D	0.90391	0.66280	D	0.25634876	0.48674	0.2564887	0.51349	0.25634876	0.48674	0.2564887	0.51349	-6.226	0.48133	T	0.6010058624993233	0.66802	0.279	0.51832	B	.;.;.;.	.;.;.;.	3.135158	0.42376	21.5	0.99887597522480287	0.96204	0.93147	0.57448	D	AEFBI	0.648481	0.62328	D	0.11529706552247	0.47176	2.947032	0.0190428627742556	0.40600	2.42556	0.927136897602537	0.26877	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.71	2.21	0.27042	2.770000	0.47346	1.065000	0.23755	0.651000	0.53179	1.000000	0.71638	0.776000	0.26740	0.667000	0.33166	0.0:0.0:0.3808:0.6192	13.534	0.61094	819	0.41190	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	2116.44	145	chr16	89284747	.	T	A	2116.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.109;DP=397;ExcessHet=0;FS=2.084;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.6;ReadPosRankSum=-1.312;SOR=0.673	GT:AD:DP:GQ:PL	0/1:68,77:145:99:2127,0,1939	6	0	1	0
chr16	89900636	89900636	C	G	exonic	TCF25	.	nonsynonymous SNV	TCF25:NM_014972:exon12:c.C1223G:p.A408G	.	425	1081	15	1	0	17	0.00780174	0.0001	0.014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.0038737488847	0.0037	0.00219649	0.0037	0.0006	0.0036	0.0001	0.0009	0.0047	0.0011	0.0052	0.0036287	561	154602	rs75719943	0.0046	0.0046	0.0046	0.0047	0.0050	0.0046	0.0045	0.0049	0.0048	0.0005	0.0023	0.0136	0	0.0008	0.0049	0.0050	0.0043	0.0050	0.0030	0.0030	0.0034	0.0025	0.0045	0.0028	0.0027	0.0040	0.0039	0.0008	0	0.0018	0.0153	0.0004	0.0010	0	0.0045	0.0028	0.0039	0.194	0.28520	T	0.261	0.22962	T	0.018	0.19075	B	0.026	0.23607	B	0.208935	0.16413	N	0.659388	0.922594	0.36722	D	0.975	0.24501	L	.	.	.	-1.65	0.39503	N	0.17	0.19055	-0.9063	0.47297	T	0.098	0.36574	T	9	0.008198619	0.00186	T	0.003874	0.09086	T	0.027	0.05988	.	.	0.314417295294	0.31040	0.10664353812247865	0.10594	0.154448843171	0.17448	0.322857230902	0.13853	T	0.032788	0.26786	T	-0.483383	0.00707	T	-0.464511	0.26109	T	0.00264271366004096	0.00028	T	0.794521	0.44963	T	0.12059963	0.28374	0.11749133	0.28364	0.12059963	0.28374	0.11749133	0.28363	-6.395	0.49471	T	.	.	0.084	0.09723	B	.;.	.;.	1.691293	0.21548	15.25	0.9789408958704614	0.36690	0.67411	0.33423	D	AEFGBCI	0.247582	0.36813	N	-0.520414616955509	0.21421	1.136666	-0.396363472616956	0.25105	1.378669	0.00958903472302979	0.11879	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	5.36	1.94	0.25058	0.747000	0.25956	1.148000	0.24458	-0.279000	0.06446	0.978000	0.35038	0.658000	0.26000	0.682000	0.33600	0.1134:0.515:0.3716:0.0	10.574	0.44406	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	0.002520	0.000000	0.004076	0.000000	0.000000	0.000000	0.006135	0.000000	0.07143	1175.53	80	chr16	89900636	.	C	G	1175.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.917;DP=255;ExcessHet=0;FS=0.849;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.69;ReadPosRankSum=-1.111;SOR=0.816	GT:AD:DP:GQ:PL	0/1:35,45:80:99:1186,0,810	6	0	1	0
chr17	2711604	2711604	G	A	exonic	CLUH	.	nonsynonymous SNV	CLUH:NM_001366661:exon1:c.C58T:p.H20Y,CLUH:NM_015229:exon1:c.C58T:p.H20Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.601e-06	2.052e-06	2.231e-06	5.199e-06	0.0012	9.6e-07	2.7e-07	0.0002	9.112e-05	0	0	0	0	0	0.0012	0	3.664e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	0.94	0.43672	T	.	.	.	.	.	.	.	.	.	.	.	.	0.14581352	0.27654	T	.	.	.	.	.	.	.	0.603376289789	0.60021	.	.	.	.	.	.	.	0.014382	0.12256	T	-0.265275	0.12289	T	-0.618825	0.11277	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.19998	B	.	.	2.660117	0.34655	19.69	0.97078719905484312	0.32272	0.85187	0.44298	D	AEFGBHCI	0.216287	0.34155	N	.	.	.	.	.	.	0.999999999997328	0.74766	0.65757	0.49021	0	0.52208	0.09955	0	0.619478	0.44681	0	0.492483	0.08430	1	.	.	4.09	3.11	0.34883	3.858000	0.55690	7.154000	0.57685	0.540000	0.25189	0.996000	0.39380	1.000000	0.68203	0.906000	0.44173	0.0:0.0:0.7856:0.2144	9.311	0.37065	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	497.49	55	chr17	2711604	.	G	A	497.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.516;DP=241;ExcessHet=0;FS=2.361;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.05;ReadPosRankSum=0.085;SOR=0.371	GT:AD:DP:GQ:PL	0/1:32,23:55:99:508,0,730	6	0	1	0
chr17	3898516	3898516	T	C	exonic	P2RX1	.	nonsynonymous SNV	P2RX1:NM_002558:exon10:c.A1000G:p.T334A	Bleeding disorder due to P2RX1 defect, somatic	.	.	.	.	.	.	.	.	.	.	4050089	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.136	0.00964639848099	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.525e-06	7.525e-06	1.089e-05	4.126e-06	9.893e-06	4.04e-06	2.95e-06	5.31e-06	3.88e-06	0	0	0	0	0	0	9.893e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	0.22660	T	0.22	0.25907	T	0.263	0.31569	B	0.182	0.35926	B	0.000002	0.62929	D	0.104096	0.977628	0.39384	D	0.97	0.24054	L	3.68	0.04151	T	-1.38	0.34198	N	0.686	0.69213	-0.9262	0.44688	T	0.013	0.05177	T	10	0.53125465	0.63196	D	0.009646	0.25222	T	0.136	0.36778	0.702	0.83869	0.259761712551	0.25597	0.8093415288982542	0.80889	0.582783069985	0.54019	0.679263949394	0.64162	T	0.308691	0.68076	T	-0.127656	0.31876	T	-0.421145	0.30944	T	0.781643629074097	0.45153	D	0.763224	0.38939	T	0.12878853	0.30099	0.11634142	0.28085	0.12878853	0.30099	0.11634142	0.28084	-8.815	0.66499	D	.	.	0.137	0.29941	B	.	.	3.047941	0.40890	21.3	0.98690112581770284	0.44752	0.92776	0.56517	D	AEFBI	0.703298	0.65939	D	-0.0237511881846423	0.40781	2.427813	0.116648349818331	0.45400	2.803826	0.989153342480002	0.31739	0.646311	0.45356	0	0.633656	0.55848	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	5.12	3.96	0.45097	5.563000	0.67055	7.897000	0.73349	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:0.1536:0.8464	11.179	0.47845	331	0.86429	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	387.44	55	chr17	3898516	.	T	C	387.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.78;DP=236;ExcessHet=0;FS=2.418;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.04;ReadPosRankSum=1.16;SOR=0.801	GT:AD:DP:GQ:PL	0/1:37,18:55:99:398,0,892	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|1:0,34:66:99:0|1:4933907_ACCACCCCAGAGCCCAC_*:3273,917,657:4933907	1	1	5	0
chr17	6800775	6800775	C	G	exonic	TEKT1	.	nonsynonymous SNV	TEKT1:NM_053285:exon7:c.G1021C:p.V341L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.254	0.0148905317491	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.74e-06	0.0001	2.726e-06	2.755e-06	3.602e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.602e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.01	0.65728	D	0.554	0.38213	P	0.802	0.58266	P	0.000902	0.41128	D	0.246339	0.603536	0.30920	N	3.065	0.87014	M	3.56	0.04696	T	-2.86	0.60188	D	0.591	0.61087	-1.1171	0.02524	T	0.046	0.19879	T	10	0.87548256	0.86836	D	0.014891	0.35296	T	0.254	0.56428	0.784	0.90768	0.246773566709	0.24272	0.5436249433425214	0.54288	0.388407156696	0.40106	0.465720266104	0.34094	T	0.063408	0.32168	T	-0.0577574	0.43257	T	-0.320741	0.42493	T	0.98490309715271	0.76061	D	0.841416	0.51702	T	0.3524521	0.57257	0.4248366	0.66311	0.3524521	0.57257	0.4248366	0.66311	-7.213	0.55575	T	.	.	0.280	0.51350	B	.	.	3.041864	0.40780	21.2	0.99569122627841022	0.72258	0.87246	0.46727	D	AEFDBHCI	0.189729	0.31698	N	0.250775222256954	0.53677	3.535585	0.210393057645656	0.50423	3.234527	0.999881703001044	0.44867	0.525926	0.21836	0	0.563428	0.19063	0	0.607795	0.38427	0	0.584449	0.35598	0	.	.	5.84	2.75	0.31439	1.756000	0.38018	-0.111000	0.11829	0.599000	0.40250	1.000000	0.71638	0.151000	0.23179	0.983000	0.59808	0.0:0.7763:0.0:0.2237	10.030	0.41269	873	0.30802	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	438.1	100	chr17	6800775	.	C	G	438.1	.	AC=2;AF=0.333;AN=6;BaseQRankSum=-1.479;DP=607;ExcessHet=0.4139;FS=239.519;MLEAC=3;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.8;ReadPosRankSum=2.42;SOR=8.121	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,22:100:99:0|1:6800775_C_G:148,0,2188:6800775	1	0	2	4
chr17	7314995	7314995	G	A	exonic	GPS2	.	nonsynonymous SNV	GPS2:NM_004489:exon2:c.C58T:p.R20W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.0346068783167	.	.	.	.	.	.	.	.	.	.	.	.	.	rs756013916	2.758e-06	6.84e-06	0	5.552e-06	3.612e-06	6.5e-07	4.4e-07	8.5e-07	5.7e-07	0	0	0	0	0	0	3.612e-06	0	0	1.313e-05	1.312e-05	1.285e-05	1.342e-05	2.405e-05	2.18e-06	8.2e-07	.	.	2.405e-05	0	0	0	0	0	0	1.47e-05	0	0	0.073	0.34800	T	0.02	0.58613	D	0.986	0.61523	D	0.432	0.45448	B	0.000207	0.47681	U	0.080485	0.81512	0.28952	N	0.805	0.20218	L	0.81	0.48460	T	-3.41	0.67129	D	0.317	0.42541	-0.9623	0.38742	T	0.093	0.35471	T	10	0.2750014	0.45056	T	0.034607	0.55790	D	0.156	0.40720	0.329	0.31357	0.439749870471	0.43592	0.1917068599554375	0.19088	.	.	0.779857993126	0.78906	T	0.227372	0.59264	T	-0.0660043	0.41962	T	-0.332587	0.41181	T	0.990409731864929	0.80624	D	0.921208	0.71813	D	0.28352535	0.51384	0.29859465	0.55893	0.28352535	0.51384	0.29859465	0.55892	-13.061	0.89613	D	.	.	0.946	0.86524	P	.;.;.	.;.;.	5.426140	0.90761	31	0.99871743062983254	0.94902	0.34103	0.24988	N	AEFDGBHCI	0.454958	0.50744	N	0.141143209044324	0.48392	3.052149	0.124434821119437	0.45802	2.836968	0.999999772626973	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.59	1.27	0.20595	2.619000	0.46066	5.905000	0.50941	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1674:0.0:0.5578:0.2748	4.992	0.13566	552	0.72024	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	253.63	46	chr17	7314995	.	G	A	253.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.88;DP=224;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.51;ReadPosRankSum=0.232;SOR=0.772	GT:AD:DP:GQ:PL	0/1:33,13:46:99:264,0,768	6	0	1	0
chr17	7764236	7764236	C	T	exonic	DNAH2	.	nonsynonymous SNV	DNAH2:NM_020877:exon20:c.C3299T:p.A1100V	.	420	1099	3	0	0	3	0.00136302	.	.	.	2814852	not_provided|DNAH2-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.114	0.00428526571416	0.0019	0.00159744	0.0018	0.0007	0.0010	0	0.0009	0.0029	0	6.791e-05	0.001824	282	154602	rs146533727	0.0022	0.0022	0.0023	0.0021	0.0026	0.0021	0.0021	0.0026	0.0025	0.0003	0.0013	0.0006	0	0.0010	0.0026	0.0026	0.0019	0.0001	0.0019	0.0019	0.0020	0.0018	0.0031	0.0017	0.0016	0.0027	0.0026	0.0006	0	0.0021	0.0012	0	0.0006	0.0068	0.0031	0.0033	0.0006	0.167	0.23095	T	.	.	.	0.032	0.20242	B	0.046	0.24676	B	0.888349	0.07279	N	1.072200	0.961673	0.38248	D	1.975	0.53506	M	1.86	0.24285	T	-2.52	0.54702	D	0.395	0.43610	-1.0856	0.06298	T	0.088	0.33941	T	10	0.014644533	0.00308	T	0.004285	0.10373	T	0.114	0.32008	.	.	0.437850553699	0.43404	0.33954248161697725	0.33867	0.275190507075	0.30004	0.289508849382	0.08850	T	0.231612	0.59798	T	-0.501949	0.00558	T	-0.497782	0.22578	T	0.0313433502590505	0.02201	T	0.709529	0.32034	T	0.06554646	0.14020	0.124509834	0.30010	0.06554646	0.14019	0.124509834	0.30009	-5.892	0.45367	T	.	.	0.120	0.24666	B	.;.	.;.	2.626578	0.34148	19.54	0.99584136865697892	0.73218	0.88062	0.47829	D	AEFDBCI	0.496510	0.53142	N	-0.137227487987935	0.35779	2.059543	-0.0649119117587832	0.36852	2.149991	0.0261956337080102	0.13697	0.497415	0.19182	0	0.59043	0.45803	0	0.315538	0.05692	2	0.542086	0.14980	0	.	.	4.66	3.64	0.40864	5.249000	0.65246	2.158000	0.30961	-0.181000	0.10308	1.000000	0.71638	0.967000	0.29559	0.738000	0.35369	0.0:0.8189:0.181:0.0	11.605	0.50281	222	0.91398	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005035	0.000000	0.005435	0.002924	0.000000	0.008621	0.009146	0.003788	0.07143	1129.44	81	chr17	7764236	.	C	T	1129.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.373;DP=262;ExcessHet=0;FS=0.858;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.94;ReadPosRankSum=-1.257;SOR=0.894	GT:AD:DP:GQ:PL	0/1:37,44:81:99:1140,0,1012	6	0	1	0
chr17	7823899	7823899	C	T	exonic	DNAH2	.	nonsynonymous SNV	DNAH2:NM_020877:exon75:c.C11395T:p.R3799C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.546	0.0489632348746	.	.	8.239e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs775819741	1.231e-05	1.3e-05	9.529e-06	1.513e-05	1.529e-05	7.7e-06	6.35e-06	9.31e-06	7.61e-06	0	0	0	0	0	0	1.529e-05	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.195	0.89043	M	2.31	0.16794	T	-7.55	0.95188	D	0.926	0.94077	-0.6049	0.64614	T	0.175	0.51896	T	10	0.9630075	0.95736	D	0.048963	0.63606	D	0.546	0.81135	0.872	0.96425	0.386882687439	0.38305	0.8103486321906248	0.80989	1.10327722277	0.77797	0.859463810921	0.91032	D	0.216453	0.57862	T	0.253878	0.78962	D	0.126901	0.78689	D	0.999894261360168	0.99577	D	0.981202	0.96450	D	0.9035651	0.91704	0.8448481	0.91160	0.9035651	0.91705	0.8448481	0.91160	-11.09	0.80149	D	.	.	0.640	0.78119	P	.;.;.	.;.;.	5.346179	0.89688	31	0.9992704097797821	0.99163	0.93263	0.57752	D	AEFGBCI	0.821540	0.74208	D	0.806512528064646	0.86513	8.909266	0.710265265995007	0.83157	7.948874	0.999999999327332	0.74766	0.437478	0.07067	0	0.547309	0.14657	0	0.606814	0.37721	0	0.530356	0.10902	0	.	.	4.96	4.96	0.65153	5.170000	0.64828	4.739000	0.44596	0.580000	0.29708	1.000000	0.71638	1.000000	0.68203	0.893000	0.43066	0.0:1.0:0.0:0.0	16.961	0.86143	287	0.88635	Dynein heavy chain domain;Dynein heavy chain domain;Dynein heavy chain domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1293.53	98	chr17	7823899	.	C	T	1293.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.843;DP=297;ExcessHet=0;FS=1.66;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.2;ReadPosRankSum=1.03;SOR=0.535	GT:AD:DP:GQ:PL	0/1:44,54:98:99:1304,0,1079	6	0	1	0
chr17	8003192	8003192	G	T	exonic	GUCY2D	.	nonsynonymous SNV	GUCY2D:NM_000180:exon2:c.G145T:p.A49S	Cone-rod dystrophy 6, Autosomal dominant;Leber congenital amaurosis 1, Autosomal recessive	4	1515	3	0	0	3	0.00098912	.	.	.	846355	Cone-rod_dystrophy_6|Leber_congenital_amaurosis_1	MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777,Orphanet:1872|MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000,Orphanet:65	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.097	0.956994938075	.	.	9.533e-05	0	0	0	0	0.0004	0	0	3.23e-05	5	154602	rs771232307	9.449e-05	9.85e-05	8.095e-05	0.0001	9.341e-05	8.089e-05	7.603e-05	7.8e-05	7.271e-05	0	5.934e-05	0.0006	0	5.284e-05	0	9.341e-05	0.0002	1.309e-05	5.914e-05	5.907e-05	5.143e-05	6.721e-05	8.828e-05	3.078e-05	2.21e-05	3.765e-05	2.577e-05	0	0	6.537e-05	0.0003	0	9.427e-05	0	8.828e-05	0	0	0.277	0.15665	T	0.259	0.23097	T	0.021	0.18474	B	0.007	0.12992	B	0.722526	0.09923	N	0.833021	1	0.08975	N	2.28	0.64929	M	-1.63	0.82440	D	-0.47	0.15178	N	0.192	0.21056	-0.7727	0.56709	T	0.406	0.75565	T	10	0.23282662	0.40287	T	0.956995	0.99713	D	0.097	0.27909	.	.	0.806080698872	0.80427	0.35266059002327665	0.35180	1.24011272246	0.81548	0.713609039783	0.69116	T	0.119103	0.44040	T	-0.247022	0.14466	T	-0.387101	0.34891	T	0.0295310455213538	0.01918	T	0.407359	0.10471	T	0.10775722	0.25480	0.09978293	0.23836	0.10775722	0.25479	0.09978293	0.23835	-5.244	0.39386	T	0.16314223790544946	0.20084	0.084	0.09675	B	.	.	1.175135	0.15650	12.01	0.91147627071788129	0.20401	0.28605	0.23600	N	AEFDBI	0.067424	0.13253	N	-0.875142053115183	0.11436	0.5518711	-0.927860304254828	0.11439	0.5827038	0.882106981839013	0.25646	0.59774	0.34471	0	0.59043	0.45803	0	0.608004	0.38603	0	0.63947	0.58350	0	.	.	4.65	1.5	0.22029	0.901000	0.28075	5.765000	0.49707	0.668000	0.69082	0.001000	0.13787	0.993000	0.31925	0.077000	0.17074	0.3371:0.0:0.6629:0.0	8.637	0.33119	712	0.56465	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001687	0.000000	0.001506	0.000000	0.000000	0.018182	0.006667	0.000000	0.07143	381.49	24	chr17	8003192	.	G	T	381.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.548;DP=124;ExcessHet=0;FS=1.824;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.9;ReadPosRankSum=2.36;SOR=0.252	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:8,16:24:99:0|1:8003192_G_T:392,0,288:8003192	6	0	1	0
chr17	8149597	8149597	C	T	exonic	PER1	.	nonsynonymous SNV	PER1:NM_002616:exon6:c.G718A:p.V240I	.	410	1102	10	0	0	10	0.00451671	.	.	.	727565	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.019	.	0.0049	0.00259585	0.0043	0.0011	0.0027	0	0.0003	0.0067	0.0045	0.0020	0.0044954	695	154602	rs74795714	0.0057	0.0057	0.0056	0.0057	0.0066	0.0056	0.0055	0.0065	0.0064	0.0008	0.0040	0.0065	0	0.0008	0.0031	0.0066	0.0044	0.0027	0.0042	0.0042	0.0045	0.0039	0.0072	0.0039	0.0038	0.0066	0.0064	0.0007	0	0.0046	0.0032	0	0.0013	0.0102	0.0072	0.0076	0.0019	0.443	0.10412	T	0.241	0.24334	T	0.029	0.19866	B	0.013	0.16460	B	0.253721	0.15456	N	0.670897	1	0.08975	N	0.69	0.16971	N	2.67	0.35960	T	-0.13	0.09460	N	0.114	0.10198	-1.0242	0.22344	T	0.026	0.11131	T	10	0.007104814	0.00162	T	.	.	.	0.019	0.03383	.	.	0.147330786459	0.14319	.	.	0.106249982341	0.12016	0.28054112196	0.07567	T	0.109207	0.42288	T	-0.669413	0.00055	T	-0.730197	0.04318	T	0.00271622591116476	0.00028	T	0.559344	0.28234	T	0.020158	0.00565	0.028824672	0.01156	0.020158	0.00564	0.028824672	0.01156	-6.165	0.47639	T	.	.	0.066	0.05623	B	.;.;.	.;.;.	-0.148903	0.03360	0.597	0.8573706713813477	0.16080	0.09460	0.15211	N	AEFBCI	0.089305	0.18101	N	-1.66099788880046	0.00989	0.0428954	-1.72274035109285	0.01040	0.04668455	0.999934501669828	0.46732	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.55	-8.48	0.00815	-0.237000	0.09007	-3.577000	0.02683	-1.577000	0.00925	0.000000	0.06391	0.000000	0.08366	0.147000	0.20199	0.0:0.676:0.1582:0.1658	11.762	0.51177	306	0.87689	PAS domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003525	0.000000	0.004076	0.002924	0.000000	0.000000	0.003049	0.003788	0.07143	933.63	71	chr17	8149597	.	C	T	933.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.48;DP=258;ExcessHet=0;FS=1.953;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.15;ReadPosRankSum=-1.754;SOR=0.954	GT:AD:DP:GQ:PL	0/1:33,38:71:99:944,0,718	6	0	1	0
chr17	9023070	9023070	G	C	exonic	NTN1	.	nonsynonymous SNV	NTN1:NM_004822:exon2:c.G697C:p.D233H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.876	0.293290331008	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs749289575	4.913e-06	6.156e-06	6.955e-06	2.833e-06	0.0003	2.04e-06	1.31e-06	6.133e-05	2.536e-05	0	0	0	0	0	0.0003	3.653e-06	1.694e-05	0	1.314e-05	1.313e-05	2.569e-05	0	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.001	0.78490	D	0.07	0.43721	T	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.515	0.92918	H	-1.51	0.81399	D	-5.8	0.88148	D	0.747	0.74644	0.605	0.91965	D	0.716	0.90239	D	10	0.93052375	0.92392	D	0.29329	0.90637	D	0.876	0.96317	0.8	0.91946	0.929026907579	0.92829	0.8236809628090355	0.82325	.	.	0.885409235954	0.94676	D	0.879957	0.97476	D	0.38996	0.89324	D	0.392212	0.91856	D	0.964601936940029	0.67008	D	0.986551	0.95418	D	0.9349458	0.94735	0.8757318	0.93264	0.9349458	0.94735	0.8757318	0.93265	-14.825	0.95429	D	0.9142964753913077	0.96123	0.993	0.94651	P	.	.	5.980978	0.94250	34	0.99433681321218015	0.64374	0.98474	0.83158	D	AEFDBHCIJ	0.912761	0.87381	D	0.863805609002155	0.89879	10.15697	0.79546891473174	0.89474	9.990767	0.999999999999841	0.74766	0.59774	0.34471	0	0.541168	0.11318	0	0.666236	0.60216	0	0.63947	0.58350	0	.	.	4.71	4.71	0.59010	8.147000	0.89557	9.941000	0.82656	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	17.632	0.88014	938	0.14419	Laminin, N-terminal|Laminin, N-terminal|Laminin, 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	610.63	60	chr17	9023070	.	G	C	610.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.6;DP=239;ExcessHet=0;FS=5.343;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.18;ReadPosRankSum=0.023;SOR=0.871	GT:AD:DP:GQ:PL	0/1:36,24:60:99:621,0,891	6	0	1	0
chr17	9857511	9857511	G	A	exonic	GLP2R	.	nonsynonymous SNV	GLP2R:NM_004246:exon6:c.G700A:p.V234I	.	427	1072	21	2	0	25	0.011526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	.	0.0047	0.00419329	0.0080	0.0004	0.0010	0	0.0187	0.0071	0.0088	0.0210	0.0072121	1115	154602	rs61730822	0.0053	0.0053	0.0047	0.0060	0.0205	0.0052	0.0052	0.0197	0.0194	0.0005	0.0011	0.0064	5.038e-05	0.0172	0.0057	0.0041	0.0039	0.0205	0.0051	0.0051	0.0045	0.0057	0.0193	0.0048	0.0047	0.0161	0.0149	0.0006	0	0.0012	0.0037	0.0002	0.0175	0	0.0064	0.0033	0.0193	0.371	0.11514	T	0.56	0.22627	T	0.028	0.19712	B	0.021	0.19346	B	0.190017	0.16872	N	0.434889	1	0.08975	N	0.61	0.15665	N	1.15	0.45248	T	0.27	0.04306	N	0.063	0.05670	-1.0347	0.18951	T	0.039	0.16763	T	10	0.0036627948	0.00067	T	.	.	.	0.060	0.17295	.	.	0.476364732183	0.47263	0.0847454450444423	0.08408	0.238286903455	0.26374	0.291410237551	0.09127	T	0.040885	0.25675	T	-0.644047	0.00079	T	-0.681649	0.06884	T	0.000678992996314219	0.00006	T	0.686031	0.51512	T	0.022864567	0.00981	0.034941487	0.02653	0.022864567	0.00981	0.034941487	0.02653	-5.195	0.38891	T	.	.	0.070	0.06710	B	.;.;.	.;.;.	0.655718	0.10239	6.978	0.86854329371311922	0.16818	0.04631	0.10296	N	AEFGBI	0.068523	0.13520	N	-0.847650686937809	0.12108	0.588198	-0.814886138503196	0.14135	0.7370068	5.87251080179806E-5	0.04171	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.28	0.641	0.16930	-0.097000	0.11010	0.155000	0.15338	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.962000	0.52141	0.2648:0.0:0.7352:0.0	11.531	0.49862	940	0.13648	GPCR, family 2-like;GPCR, family 2-like;GPCR, family 2-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.011078	0.005051	0.004076	0.014620	0.000000	0.008621	0.015244	0.018939	0.07143	1554.49	124	chr17	9857511	.	G	A	1554.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.36;DP=313;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.54;ReadPosRankSum=0.533;SOR=0.752	GT:AD:DP:GQ:PL	0/1:59,65:124:99:1565,0,1285	6	0	1	0
chr17	17819659	17819659	G	A	exonic	SREBF1	.	nonsynonymous SNV	SREBF1:NM_001321096:exon3:c.C518T:p.P173L,SREBF1:NM_004176:exon3:c.C590T:p.P197L,SREBF1:NM_001005291:exon4:c.C680T:p.P227L	.	402	1113	7	0	0	7	0.0031348	.	.	.	703997	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.127	0.0159295662998	0.0052	0.00219649	0.0050	0.0015	0.0045	0	0.0013	0.0076	0.0098	0.0004	0.0046507	719	154602	rs114001633	0.0072	0.0071	0.0074	0.0069	0.0084	0.0070	0.0070	0.0083	0.0082	0.0024	0.0057	0.0049	0	0.0017	0.0057	0.0084	0.0076	0.0005	0.0052	0.0052	0.0054	0.0050	0.0078	0.0049	0.0048	0.0073	0.0071	0.0022	0	0.0078	0.0052	0	0.0012	0.0068	0.0078	0.0061	0	0.491	0.09128	T	0.567	0.16914	T	0.001	0.07471	B	0.002	0.06944	B	0.000007	0.62929	N	0.066076	0.99967	0.20745	N	1.1	0.28011	L	0.65	0.63568	T	-1.21	0.30762	N	0.155	0.16028	-1.0463	0.15447	T	0.112	0.40029	T	10	0.006355375	0.00144	T	0.01593	0.36930	T	0.127	0.34888	.	.	0.082315109003	0.07666	0.10340040442223171	0.10270	0.305260887764	0.32830	0.38338214159	0.22735	T	0.422868	0.77380	T	-0.473877	0.00804	T	-0.4482	0.27895	T	0.00114388923650348	0.00011	T	0.777822	0.45098	T	0.036058877	0.04362	0.02994412	0.01390	0.036058877	0.04362	0.02994412	0.01389	-4.238	0.30162	T	.	.	0.064	0.02927	B	.;.;.	.;.;.	2.195373	0.27999	17.65	0.84759611732675255	0.15481	0.04634	0.10300	N	AEFGBHCI	0.170114	0.29699	N	-0.797834808254444	0.13366	0.6579506	-0.716077191492659	0.16560	0.8766532	0.999999999978281	0.74766	0.645754	0.44609	0	0.696144	0.67643	0	0.696144	0.63334	0	0.723	0.93126	0	.	.	3.76	0.403	0.15569	2.066000	0.41078	1.185000	0.24724	0.672000	0.70159	0.814000	0.29906	0.001000	0.17328	0.954000	0.50415	0.218:0.0:0.4118:0.3702	3.039	0.05761	300	0.87974	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.006579	0.025773	0.006812	0.002924	0.050000	0.000000	0.003067	0.003817	0.1429	1738.65	49	chr17	17819659	.	G	A	1738.65	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.69;DP=263;ExcessHet=0.3476;FS=1.479;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=14.73;ReadPosRankSum=-0.031;SOR=0.857	GT:AD:DP:GQ:PL	0/1:19,30:49:99:868,0,378	5	0	2	0
chr17	31853010	31853010	G	A	exonic	COPRS	.	nonsynonymous SNV	COPRS:NM_001330176:exon3:c.C151T:p.P51S,COPRS:NM_018405:exon3:c.C187T:p.P63S	.	420	1099	3	0	0	3	0.00136302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.0149136626246	.	.	2.471e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs773314060	2.189e-05	2.189e-05	1.634e-05	2.751e-05	0.0003	1.584e-05	1.356e-05	0.0002	0.0002	0	0	0	0	0	0.0003	4.498e-06	1.656e-05	0.0003	6.571e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.013	0.53900	D	0.024	0.56640	D	0.573	0.38659	P	0.294	0.40804	B	0.238836	0.15756	N	0.599907	1	0.08975	N	2.42	0.70002	M	0.59	0.53943	T	-5.09	0.82961	D	0.139	0.17828	-1.0055	0.28307	T	0.103	0.38044	T	10	0.11518875	0.21693	T	0.014914	0.35329	T	0.059	0.16972	0.173	0.07894	0.448877186464	0.44507	0.08981039020694367	0.08914	0.153351658725	0.17303	0.315866053104	0.12795	T	0.108588	0.42404	T	-0.359323	0.04168	T	-0.461771	0.26406	T	0.806199610233307	0.46780	D	0.573243	0.20728	T	0.18457505	0.39780	0.18174268	0.41057	0.18457505	0.39779	0.18174268	0.41056	-3.34	0.14259	T	.	.	0.079	0.07937	B	.;.;.	.;.;.	1.578666	0.20203	14.64	0.99329188715756489	0.59700	0.22898	0.21899	N	AEFBI	0.070172	0.13920	N	-0.679894282471142	0.16596	0.8469295	-0.753219287959048	0.15644	0.8237593	1.33170543523043E-5	0.02871	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.84	0.259	0.14839	0.376000	0.20265	0.739000	0.21146	0.596000	0.33519	0.609000	0.27821	0.884000	0.27742	0.049000	0.15107	0.0757:0.2634:0.3895:0.2714	3.754	0.08104	920	0.19381	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	497.63	36	chr17	31853010	.	G	A	497.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.8;DP=205;ExcessHet=0;FS=3.164;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.82;ReadPosRankSum=0.063;SOR=1.46	GT:AD:DP:GQ:PL	0/1:17,19:36:99:508,0,361	6	0	1	0
chr17	35422761	35422761	C	T	exonic	SLFN12	.	nonsynonymous SNV	SLFN12:NM_001289009:exon2:c.G268A:p.V90I,SLFN12:NM_018042:exon2:c.G268A:p.V90I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00952362786528	.	.	8.244e-06	0	8.637e-05	0	0	0	0	0	6.5e-06	1	154602	rs764941956	4.789e-06	4.789e-06	5.445e-06	4.126e-06	2.237e-05	1.99e-06	1.28e-06	1.94e-06	1.28e-06	0	2.237e-05	0	0	0	0	5.396e-06	0	0	6.573e-06	6.568e-06	1.285e-05	0	6.545e-05	0	0	.	.	0	0	6.545e-05	0	0	0	0	0	0	0	0.336	0.37966	T	0.094	0.39645	T	0.9	0.49598	P	0.286	0.40541	B	.	.	.	.	1	0.08975	N	2.28	0.64929	M	3.84	0.22678	T	-0.24	0.15178	N	0.09	0.06854	-1.0396	0.17434	T	0.036	0.15683	T	9	0.109140426	0.20347	T	0.009524	0.24924	T	0.026	0.05648	0.36	0.36385	0.167679373172	0.16340	0.022376581441498455	0.02189	0.168893101428	0.19044	0.487222731113	0.37054	T	0.005115	0.14127	T	-0.317655	0.07092	T	-0.611201	0.11887	T	0.09362736339952	0.11642	T	0.717028	0.32946	T	0.030834725	0.02815	0.03515549	0.02715	0.030834725	0.02815	0.03515549	0.02715	-3.993	0.23699	T	.	.	0.110	0.21541	B	.;.;.;.	.;.;.;.	0.475545	0.08450	5.209	0.98015761662962775	0.37589	0.02015	0.06057	N	AEFGBI	0.038362	0.05417	N	-0.699722239598615	0.16030	0.8131404	-0.92070899883072	0.11606	0.5922909	4.10261875472659E-4	0.06860	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	3.03	-0.587	0.11104	-0.608000	0.05737	-10.594000	0.00685	0.375000	0.20354	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.2193:0.4316:0.2141:0.135	1.460	0.02248	742	0.52873	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1450.44	98	chr17	35422761	.	C	T	1450.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.507;DP=494;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.8;ReadPosRankSum=-0.581;SOR=0.624	GT:AD:DP:GQ:PL	0/1:45,53:98:99:1461,0,1172	6	0	1	0
chr17	35479888	35479888	C	A	exonic	SLFN12L	.	nonsynonymous SNV	SLFN12L:NM_001195790:exon2:c.G322T:p.V108F,SLFN12L:NM_001363830:exon3:c.G409T:p.V137F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.0101657904307	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.742e-06	2.736e-06	4.091e-06	1.378e-06	3.602e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.602e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.472	0.15984	T	0.727	0.05221	T	0.997	0.70673	D	0.994	0.82059	D	.	.	.	.	1	0.08975	N	1.61	0.41143	L	3.83	0.03702	T	-0.69	0.19720	N	0.275	0.31140	-0.9373	0.43041	T	0.018	0.07470	T	9	0.16212139	0.30392	T	0.010166	0.26390	T	0.060	0.17295	0.341	0.33302	0.0551355673512	0.04727	0.15447611087698823	0.15368	0.200760539975	0.22472	0.525263726711	0.42368	T	0.035533	0.23754	T	-0.253723	0.13645	T	-0.602232	0.12624	T	0.263355791568756	0.23461	T	0.533147	0.17760	T	0.04171136	0.06192	0.044870324	0.05910	0.04171136	0.06191	0.044870324	0.05910	-3.344	0.14922	T	.	.	0.314	0.54041	B	.;.;.	.;.;.	0.387719	0.07593	4.253	0.61540266934543397	0.06735	0.02457	0.06906	N	AEFBI	0.041605	0.06346	N	-0.457055253425503	0.23502	1.26252	-0.669180731498794	0.17732	0.9442258	0.0238817940394959	0.13540	0.475973	0.10046	0	0.601575	0.49859	0	0.563428	0.18855	0	0.530356	0.10902	0	.	.	1.98	1.98	0.25351	-0.734000	0.04997	-6.709000	0.01326	-1.555000	0.00957	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:1.0:0.0:0.0	7.350	0.25860	240	0.90628	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1240.46	110	chr17	35479888	.	C	A	1240.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.23;DP=412;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.28;ReadPosRankSum=-0.238;SOR=0.748	GT:AD:DP:GQ:PL	0/1:61,49:110:99:1251,0,1462	6	0	1	0
chr17	35981408	35981408	C	T	exonic	CCL16	.	nonsynonymous SNV	CCL16:NM_004590:exon1:c.G13A:p.E5K	.	.	.	.	.	.	.	.	.	.	.	2674420	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.018	0.00204031841418	7.7e-05	0.000399361	3.124e-05	0	0	0.0001	0	3.698e-05	0	0	3.23e-05	5	154602	rs142115594	1.987e-05	1.984e-05	1.499e-05	2.48e-05	0.0002	1.394e-05	1.205e-05	2.377e-05	1.259e-05	8.97e-05	4.497e-05	0	2.521e-05	0	0.0002	1.71e-05	0	3.506e-05	3.285e-05	3.281e-05	5.142e-05	1.344e-05	6.545e-05	1.261e-05	7.98e-06	7.98e-06	2.99e-06	4.816e-05	0	6.545e-05	0	0	0	0	2.94e-05	0	0	.	.	.	0.888	0.03152	T	0.0	0.02946	B	0.0	0.01387	B	0.801319	0.06771	N	1.144270	1	0.08975	N	-0.69	0.01958	N	.	.	.	.	.	.	0.145	0.14622	-0.8961	0.48380	T	0.005	0.01688	T	10	0.021828026	0.00531	T	0.00204	0.03721	T	.	.	.	.	0.270447802918	0.26645	0.4791215831687993	0.47832	.	.	0.256725430489	0.04509	T	0.005839	0.05287	T	-0.422759	0.01643	T	-0.675912	0.07235	T	0.0203441396368754	0.00734	T	0.429357	0.11628	T	0.026254125	0.01660	0.043077305	0.05276	0.026254125	0.01660	0.043077305	0.05276	-3.541	0.17010	T	.	.	0.102	0.17869	B	.	.	-0.624313	0.01506	0.095	0.85671038806959265	0.16039	0.05660	0.11574	N	AEFDBHCI	0.108792	0.21631	N	-1.50615180206219	0.01809	0.07928671	-1.55784393577504	0.01922	0.08770615	0.999999963173566	0.74766	0.554377	0.28877	0	0.547309	0.14657	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	3.5	-3.98	0.03810	-0.655000	0.05447	-8.595000	0.00944	-0.191000	0.09375	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.3596:0.0:0.6404	9.003	0.35256	389	0.83303	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	903.44	66	chr17	35981408	.	C	T	903.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.591;DP=253;ExcessHet=0;FS=2.09;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.69;ReadPosRankSum=0.946;SOR=0.438	GT:AD:DP:GQ:PL	0/1:27,39:66:99:914,0,574	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	0/1:25,30:55:99:306,0,193	1	0	6	0
chr17	37553619	37553619	T	C	exonic	SYNRG	.	nonsynonymous SNV	SYNRG:NM_001163547:exon12:c.A1621G:p.I541V,SYNRG:NM_001163544:exon13:c.A1870G:p.I624V,SYNRG:NM_001163545:exon13:c.A1867G:p.I623V,SYNRG:NM_001163546:exon13:c.A1870G:p.I624V,SYNRG:NM_080550:exon13:c.A1870G:p.I624V,SYNRG:NM_198882:exon13:c.A1870G:p.I624V,SYNRG:NM_007247:exon14:c.A2104G:p.I702V	.	435	1079	8	0	0	8	0.00369344	.	.	.	2247747	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.064	0.00174645616462	0.0004	0.000399361	0.0004	9.692e-05	0.0010	0	0	0.0004	0.0011	0.0004	0.0003428	53	154602	rs139017068	0.0003	0.0003	0.0003	0.0003	0.0014	0.0003	0.0003	0.0007	0.0007	2.988e-05	0.0010	0.0036	0	0	0.0014	0.0002	0.0007	0.0006	0.0003	0.0003	0.0003	0.0004	0.0016	0.0003	0.0002	0.0011	0.0010	4.814e-05	0	0.0016	0.0037	0	0	0	0.0002	0	0.0004	.	.	.	0.957	0.10501	T	0.002	0.11197	B	0.002	0.08700	B	0.238646	0.15760	N	0.664334	1	0.08975	N	0.77	0.19370	N	.	.	.	.	.	.	0.051	0.03726	-1.0052	0.28397	T	0.053	0.22384	T	10	0.0031022727	0.00051	T	0.001746	0.02934	T	.	.	.	.	0.0675242888579	0.06100	0.0684756150646634	0.06785	.	.	0.252966672182	0.04086	T	0.006878	0.06306	T	-0.580064	0.00192	T	-0.656439	0.08509	T	0.0124214301810348	0.00204	T	.	.	.	0.01927723	0.00455	0.060873587	0.11664	0.01927723	0.00455	0.060873587	0.11664	-2.208	0.04079	T	.	.	0.061	0.02399	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.925334	0.00884	0.032	0.46206734690816975	0.03684	0.03815	0.09152	N	AEFDBI	0.056642	0.10487	N	-1.09930516950097	0.06657	0.3070414	-1.05821234926909	0.08537	0.4201962	0.880546553119356	0.25611	0.706548	0.73137	0	0.724815	0.89359	0	0.566861	0.19136	0	0.714379	0.83352	0	.	.	6.17	-3.23	0.04794	-1.189000	0.03170	-8.883000	0.00899	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	1.000000	0.97212	0.0:0.6254:0.0:0.3746	13.998	0.63929	48	0.97687	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	544.44	65	chr17	37553619	.	T	C	544.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.21;DP=254;ExcessHet=0;FS=0.985;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.38;ReadPosRankSum=1.23;SOR=0.487	GT:AD:DP:GQ:PL	0/1:41,24:65:99:555,0,1098	6	0	1	0
chr17	39424658	39424658	T	C	exonic	MED1	.	nonsynonymous SNV	MED1:NM_004774:exon11:c.A820G:p.I274V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.017250199539	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.884e-07	6.841e-07	0	1.384e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	0.29029	T	0.132	0.92824	T	0.77	0.55692	P	0.295	0.63417	B	.	.	.	.	0.999414	0.46970	D	1.565	0.39561	L	1.26	0.36330	T	-0.65	0.20576	N	0.374	0.43610	-1.0460	0.15534	T	0.122	0.42378	T	9	0.32319635	0.49660	T	0.01725	0.38871	T	0.085	0.24743	0.453	0.51612	0.472011534587	0.46827	0.4382436582389497	0.43741	0.602793756406	0.55280	0.704655170441	0.67817	T	0.12115	0.44390	T	-0.152506	0.27920	T	-0.456841	0.26943	T	0.662570970099326	0.39009	D	0.846715	0.52677	T	0.062516496	0.13064	0.08939838	0.20903	0.062516496	0.13064	0.08939838	0.20902	-2.755	0.07946	T	.	.	0.333	0.55417	B	.;.	.;.	3.390375	0.46937	22.4	0.99889571068460226	0.96359	0.97557	0.75530	D	AEBI	0.528778	0.55016	D	0.268223601221027	0.54544	3.619855	0.322920752390628	0.56888	3.853057	0.258835146220981	0.18766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.46	4.38	0.52019	5.711000	0.68052	5.104000	0.47459	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0752:0.0:0.9248	10.837	0.45897	440	0.80101	.;Mediator complex, subunit Med1	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1031.49	78	chr17	39424658	.	T	C	1031.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.06;DP=269;ExcessHet=0;FS=7.672;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.22;ReadPosRankSum=-1.296;SOR=0.577	GT:AD:DP:GQ:PL	0/1:32,46:78:99:1042,0,706	6	0	1	0
chr17	39965842	39965842	G	A	exonic	GSDMA	.	nonsynonymous SNV	GSDMA:NM_178171:exon2:c.G155A:p.R52Q	.	.	.	.	.	.	.	.	.	.	.	2719752	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.235	0.0034169723116	8.1e-05	.	8.598e-05	0	0	0	0	0.0001	0	0.0001	1.94e-05	3	154602	rs199741961	1.336e-05	1.779e-05	1.253e-05	1.421e-05	0.0001	8.55e-06	6.89e-06	5.716e-05	4.273e-05	6.173e-05	2.622e-05	0	0	0	0	5.493e-06	1.695e-05	0.0001	3.945e-05	3.94e-05	2.571e-05	5.385e-05	0.0001	1.716e-05	1.13e-05	3.251e-05	1.916e-05	9.659e-05	0	0.0001	0	0	0	0	0	0	0	0.075	0.34444	T	0.046	0.49120	D	0.992	0.64738	D	0.763	0.56556	P	0.072834	0.21385	N	0.442305	0.746298	0.33878	D	1.525	0.38595	L	1.78	0.25678	T	-1.84	0.43149	N	0.322	0.36254	-0.9239	0.45013	T	0.108	0.39197	T	10	0.27806175	0.45375	T	0.003417	0.07694	T	0.235	0.53788	.	.	0.201204373187	0.19734	0.2706319221998247	0.26976	0.119740202869	0.13491	0.521137416363	0.41786	T	0.009851	0.18245	T	-0.0789022	0.39893	T	-0.351114	0.39077	T	0.346391290426254	0.26877	T	0.863414	0.55914	D	0.12819245	0.29977	0.13129821	0.31530	0.12819245	0.29977	0.13129821	0.31529	-4.4	0.29557	T	.	.	0.118	0.24088	B	.;.;.	.;.;.	4.197646	0.63317	24.6	0.99518807268482345	0.69100	0.78990	0.39060	D	AEFBI	0.229493	0.35301	N	0.485838574545136	0.66263	4.927572	0.496248937282563	0.67739	5.124786	0.735595264565939	0.23126	0.500041	0.20204	0	0.59043	0.45803	0	0.624306	0.44879	0	0.542086	0.14980	0	.	.	5.51	5.51	0.81769	3.474000	0.52893	9.635000	0.81135	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.964000	0.52637	0.0:0.0:1.0:0.0	14.905	0.70352	318	0.87072	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	636.44	46	chr17	39965842	.	G	A	636.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.3;DP=268;ExcessHet=0;FS=6.632;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.84;ReadPosRankSum=-0.484;SOR=1.765	GT:AD:DP:GQ:PL	0/1:24,22:46:99:647,0,551	6	0	1	0
chr17	39974278	39974278	G	A	exonic	GSDMA	.	nonsynonymous SNV	GSDMA:NM_178171:exon9:c.G757A:p.V253I	.	416	1094	12	0	0	12	0.00545455	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.00279396523765	0.0002	0.00119808	0.0014	0.0001	0.0002	0	0	0.0002	0.0015	0.0100	0.001022	158	154602	rs200722398	0.0006	0.0006	0.0004	0.0009	0.0083	0.0006	0.0006	0.0078	0.0076	0	9.113e-05	0	5.043e-05	0	0.0024	0.0001	0.0007	0.0083	0.0003	0.0003	0.0003	0.0003	0.0068	0.0002	0.0002	0.0050	0.0044	0	0.0011	0	0	0	0	0	0.0002	0.0005	0.0068	0.452	0.08943	T	0.732	0.05128	T	0.002	0.09854	B	0.001	0.04355	B	0.959492	0.08233	N	0.977537	1	0.08975	N	1.04	0.26193	L	1.99	0.21666	T	-0.11	0.08653	N	0.086	0.06322	-0.9674	0.37733	T	0.019	0.07939	T	10	0.0049937367	0.00107	T	0.002794	0.05810	T	0.038	0.09825	.	.	0.0297737177859	0.01360	0.09921580017986624	0.09852	0.0598782766333	0.06659	0.284895420074	0.08185	T	0.003831	0.03242	T	-0.732285	0.00023	T	-0.818538	0.01482	T	0.00673396509254671	0.00076	T	0.420158	0.11156	T	0.019484436	0.00480	0.021492226	0.00199	0.019484436	0.00479	0.021492226	0.00199	-3.811	0.20969	T	.	.	0.071	0.03925	B	.;.	.;.	0.804128	0.11749	8.324	0.19541576626061555	0.00664	0.06998	0.13024	N	AEFBI	0.034783	0.04367	N	-0.994334959763885	0.08724	0.4101539	-0.920376276963245	0.11614	0.5927452	0.935632730746567	0.27221	0.497415	0.19182	0	0.547309	0.14657	0	0.59043	0.30614	0	0.530356	0.10902	0	.	.	5.59	1.3	0.20778	0.990000	0.29242	1.034000	0.23503	0.676000	0.76740	0.513000	0.27056	0.000000	0.08366	0.012000	0.09680	0.2625:0.0:0.5816:0.1559	4.364	0.10651	274	0.89249	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003535	0.000000	0.002717	0.000000	0.000000	0.000000	0.003086	0.011364	0.07143	546.44	65	chr17	39974278	.	G	A	546.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.478;DP=255;ExcessHet=0;FS=2.24;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.41;ReadPosRankSum=0.121;SOR=0.415	GT:AD:DP:GQ:PL	0/1:39,26:65:99:557,0,938	6	0	1	0
chr17	41382308	41382308	A	G	exonic	KRT34	.	nonsynonymous SNV	KRT34:NM_021013:exon1:c.T65C:p.L22P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.018428726593	.	.	8.238e-06	0	0	0	0	0	0.0011	0	7.76e-05	12	154602	rs756013781	5.481e-06	0.0003	8.182e-06	2.754e-06	2.236e-05	2.36e-06	1.7e-06	1.94e-06	1.28e-06	0	2.236e-05	0	0	0	0	5.403e-06	1.659e-05	0	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	0.003	0.76473	D	0.976	0.58310	D	0.556	0.49411	P	.	.	.	.	0.999455	0.47118	D	1.245	0.31408	L	-1.89	0.84557	D	.	.	.	0.669	0.67736	-1.0427	0.16503	T	0.078	0.31042	T	8	0.66327584	0.70279	D	0.018429	0.40491	T	.	.	0.428	0.47515	0.761221526906	0.75905	0.03657958571385173	0.03604	0.342438391368	0.36184	0.435077399015	0.29903	T	0.021796	0.16915	T	0.121469	0.66520	D	-0.0632948	0.66101	T	0.91840136051178	0.57665	D	0.333767	0.07077	T	0.1847125	0.39799	0.32490122	0.58410	0.1847125	0.39799	0.32490122	0.58410	-3.974	0.23413	T	.	.	0.079	0.07130	B	.	.	1.715876	0.21849	15.37	0.98901740872576172	0.48199	0.67040	0.33290	D	AEFDBCI	0.211856	0.33761	N	0.136755772330337	0.48185	3.034055	0.188891208117852	0.49238	3.129369	0.733449985707655	0.23090	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.17	5.17	0.70848	1.869000	0.39156	2.221000	0.31450	0.660000	0.55035	0.999000	0.42656	1.000000	0.68203	0.332000	0.25247	0.7462:0.1678:0.086:0.0	5.942	0.18435	167	0.93508	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	485.34	62	chr17	41382308	.	A	G	485.34	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-4.409;DP=485;ExcessHet=0.3476;FS=226.68;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=2.6;ReadPosRankSum=1.55;SOR=8.189	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:48,14:62:99:0|1:41382308_A_G:187,0,1724:41382308	5	0	2	0
chr17	41382311	41382311	C	T	exonic	KRT34	.	nonsynonymous SNV	KRT34:NM_021013:exon1:c.G62A:p.R21K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.00559261676492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	0.27235	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.999663	0.20745	N	1.1	0.28011	L	-1.55	0.81727	D	.	.	.	0.199	0.21969	-1.0308	0.20195	T	0.039	0.16935	T	8	0.08334431	0.13855	T	0.005593	0.14439	T	.	.	0.293	0.25560	0.657325010897	0.65446	0.07906609140832596	0.07841	0.0402348126993	0.04305	0.306056171656	0.11311	T	0.021002	0.16432	T	-0.119232	0.33249	T	-0.409045	0.32335	T	0.0497427848752955	0.05455	T	0.382662	0.09313	T	0.069265865	0.15160	0.074363045	0.16259	0.069265865	0.15160	0.074363045	0.16259	-2.912	0.09264	T	.	.	0.091	0.13080	B	.	.	1.087164	0.14705	11.26	0.93968684478021924	0.24041	0.45317	0.27512	N	AEFDBCI	0.063292	0.12223	N	-0.668850020287515	0.16912	0.8658866	-0.557939429380533	0.20595	1.110326	0.0465120987434442	0.14694	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.17	-0.174	0.12665	0.036000	0.13706	-0.541000	0.08582	0.596000	0.33519	0.869000	0.30776	0.000000	0.08366	0.387000	0.26492	0.1565:0.3623:0.0:0.4812	4.436	0.10975	167	0.93508	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	413.36	62	chr17	41382311	.	C	T	413.36	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-5.453;DP=486;ExcessHet=0.3476;FS=219.627;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=2.21;ReadPosRankSum=1.43;SOR=8.121	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:48,14:62:99:0|1:41382308_A_G:187,0,1724:41382308	6	0	1	0
chr17	41420934	41420934	A	C	exonic	KRT37	.	nonsynonymous SNV	KRT37:NM_003770:exon7:c.T1294G:p.C432G	.	418	1089	15	0	0	15	0.00683995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.221	.	0.0005	0.00219649	0.0012	0.0002	0.0003	0	0	0.0002	0	0.0078	0.0010608	164	154602	rs144573570	0.0006	0.0007	0.0004	0.0009	0.0079	0.0006	0.0006	0.0074	0.0072	2.987e-05	0.0005	0	0	0	0.0035	0.0002	0.0007	0.0079	0.0005	0.0005	0.0003	0.0006	0.0060	0.0004	0.0003	0.0043	0.0037	4.809e-05	0	0.0009	0	0.0002	0	0	0.0003	0.0009	0.0060	0.0	0.91255	D	0.027	0.55341	D	0.001	0.07471	B	0.001	0.04355	B	0.005039	0.33162	N	0.140146	1	0.08975	N	1.1	0.28011	L	-1.5	0.81318	D	-6.52	0.91695	D	0.207	0.22998	-0.9547	0.40149	T	0.139	0.45772	T	10	0.003955066	0.00076	T	.	.	.	0.221	0.51721	.	.	0.243398259712	0.23965	0.05350183222236431	0.05292	0.0704159938913	0.07888	0.275051265955	0.06812	T	0.065794	0.32781	T	-0.399338	0.02338	T	-0.341692	0.40152	T	0.030195224821618	0.02019	T	.	.	.	0.24073601	0.46980	0.3732129	0.62513	0.24073601	0.46980	0.3732129	0.62513	-3.958	0.23173	T	.	.	0.063	0.01470	B	.	.	1.085848	0.14694	11.24	0.69858002174764522	0.09107	0.04575	0.10222	N	AEFDBCI	0.058417	0.10958	N	-1.24302847384003	0.04392	0.1981244	-1.23065367981739	0.05424	0.2583978	0.999524743457857	0.40175	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.38	0.159	0.14256	-0.069000	0.11501	0.311000	0.17083	-0.208000	0.08445	0.017000	0.19353	0.000000	0.08366	0.040000	0.14268	0.5037:0.157:0.188:0.1513	0.977	0.01339	189	0.92630	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	275.44	46	chr17	41420934	.	A	C	275.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.738;DP=238;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.99;ReadPosRankSum=-0.538;SOR=0.836	GT:AD:DP:GQ:PL	0/1:32,14:46:99:286,0,874	6	0	1	0
chr17	41936912	41936912	C	T	exonic	TTC25	.	nonsynonymous SNV	TTC25:NM_001350319:exon5:c.C610T:p.L204F,TTC25:NM_031421:exon5:c.C610T:p.L204F	Ciliary dyskinesia, primary, 35, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.257	.	.	.	2.491e-05	0	8.655e-05	0	0	0	0	0.0001	1.94e-05	3	154602	rs781955655	8.21e-06	8.209e-06	2.723e-06	1.375e-05	0.0001	4.38e-06	3.46e-06	7.123e-05	5.481e-05	0	0	0	0	0	0	0	1.657e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.45318	T	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	.	.	.	.	.	.	.	.	.	.	.	.	0.751	0.75009	-0.0953	0.80207	T	0.377	0.73445	T	8	0.69240904	0.71936	D	.	.	.	0.257	0.56827	0.44	0.49484	0.159798565429	0.15598	0.4979596284497784	0.49716	.	.	0.636693775654	0.58095	T	0.311968	0.68382	T	0.107533	0.65096	D	0.176367	0.81785	D	0.847008168697357	0.49909	D	0.90251	0.65969	D	0.29036787	0.52027	0.37823486	0.62905	0.29036787	0.52027	0.37823486	0.62905	-8.56	0.64825	D	.	.	0.488	0.64053	A	.	.	4.785704	0.77609	26.7	0.99841490876226835	0.92229	0.95289	0.64144	D	AEFBI	.	.	.	0.715448802635083	0.80644	7.340418	0.684384306614889	0.81195	7.469825	0.999368604390045	0.39301	0.088506	0.02282	0	0.067934	0.01796	0	0.121303	0.03266	0	0.10565	0.03146	0	0.965869	0.68804	6.04	6.04	0.98025	2.315000	0.43412	7.685000	0.65502	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.357000	0.25818	0.0:0.8177:0.0:0.1823	10.112	0.41741	506	0.75555	.	.	.	.	.	.	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	687.83	67	chr17	41936912	.	C	T	687.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.145;DP=242;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.27;ReadPosRankSum=-1.818;SOR=0.812	GT:AD:DP:GQ:PL	0/1:36,31:67:99:698,0,899	6	0	1	0
chr17	42041015	42041015	C	T	exonic	C17orf113	.	nonsynonymous SNV	C17orf113:NM_001358661:exon3:c.G718A:p.V240M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.778e-06	3.42e-06	3.508e-06	1.961e-06	4.354e-05	7.4e-07	2.1e-07	.	.	4.354e-05	0	0	0	0	0	0	4.579e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19910812	0.35906	T	.	.	.	.	.	.	.	.	.	0.16009262728284848	0.15930	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.554445	0.19192	T	0.042655006	0.06507	0.13696869	0.32752	0.042655006	0.06506	0.13696869	0.32751	-5.455	0.41445	T	.	.	0.090	0.12797	B	.	.	2.594567	0.33663	19.41	0.79194580226021394	0.12632	0.62211	0.31713	D	AEFDBI	.	.	.	.	.	.	.	.	.	9.19493974692155E-5	0.04910	0.158359	0.03455	1	0.097471	0.02872	0	0.175771	0.04330	1	0.083433	0.02327	0	0.260885	0.33253	5.1	2.97	0.33479	1.217000	0.32059	0.283000	0.16788	0.599000	0.40250	0.998000	0.41325	0.016000	0.20520	0.994000	0.71098	0.3391:0.5661:0.0:0.0949	6.098	0.19251	489	0.76795	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	37.84	2	chr17	42041015	.	C	T	37.84	.	AC=2;AF=0.25;AN=8;DP=8;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.25;MQ=60;QD=18.92;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	3	1	0	3
chr17	42299781	42299781	C	T	exonic	STAT5A	.	nonsynonymous SNV	STAT5A:NM_001288719:exon5:c.C491T:p.P164L,STAT5A:NM_001288718:exon6:c.C581T:p.P194L,STAT5A:NM_001288720:exon6:c.C581T:p.P194L,STAT5A:NM_003152:exon7:c.C581T:p.P194L	.	3	1518	0	1	0	2	0.000658328	.	.	.	2363291	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.180	0.0873620576646	.	0.000399361	0.0001	0	8.67e-05	0	0	0.0002	0	0.0002	0.0001164	18	154602	rs200134221	9.85e-05	9.85e-05	7.351e-05	0.0001	0.0014	8.511e-05	7.981e-05	0.0007	0.0005	2.987e-05	4.472e-05	0	0	0	0.0014	8.543e-05	0.0002	0.0003	8.536e-05	8.53e-05	7.709e-05	9.402e-05	0.0004	4.954e-05	3.96e-05	7.29e-05	3.34e-05	4.814e-05	0	0.0001	0	0	0	0	0.0001	0	0.0004	0.198	0.20532	T	0.203	0.59732	T	0.566	0.38464	P	0.142	0.33681	B	0.000119	0.50451	D	0.175332	1	0.81001	D	2.075	0.57047	M	0.18	0.60361	T	-2.34	0.51811	N	0.672	0.67995	-0.8838	0.49456	T	0.178	0.52381	T	10	0.12321043	0.23386	T	0.087362	0.74920	D	0.180	0.45073	.	.	0.463073977797	0.45932	0.40465341983122055	0.40381	1.01254877537	0.74827	0.654599249363	0.60639	T	0.775674	0.94032	D	-0.265872	0.12221	T	-0.315135	0.43106	T	0.147615410129373	0.16912	T	0.981102	0.94177	D	0.11531306	0.27212	0.12988015	0.31221	0.11531306	0.27212	0.12988015	0.31220	-6.418	0.52959	T	.	.	0.159	0.35204	B	.;.;.;.;.	.;.;.;.;.	3.893983	0.56683	23.8	0.90293399089755888	0.19561	0.94676	0.61949	D	AEFGBCI	0.522316	0.54638	D	0.153152660393569	0.48960	3.102005	0.257654083136027	0.53087	3.479397	0.999945143113918	0.47345	0.67177	0.52595	0	0.702456	0.74545	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	4.78	4.78	0.60666	5.663000	0.67708	5.358000	0.48392	0.565000	0.28586	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	17.809	0.88521	363	0.84772	STAT transcription factor, all-alpha domain;STAT transcription factor, all-alpha domain;.;STAT transcription factor, all-alpha domain;STAT transcription factor, all-alpha 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	673.63	62	chr17	42299781	.	C	T	673.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.063;DP=245;ExcessHet=0;FS=0.948;MLEAC=1;MLEAF=0.071;MQ=58.23;MQRankSum=-0.357;QD=10.87;ReadPosRankSum=-0.007;SOR=0.836	GT:AD:DP:GQ:PL	0/1:32,30:62:99:684,0,744	6	0	1	0
chr17	42502812	42502821	GCCCCAGTCA	-	exonic	ATP6V0A1	.	frameshift deletion	ATP6V0A1:NM_001378534:exon18:c.2044_2053del:p.P683Qfs*8,ATP6V0A1:NM_001378535:exon18:c.2023_2032del:p.P676Qfs*8,ATP6V0A1:NM_001378530:exon19:c.2146_2155del:p.P717Qfs*8	.	943	577	2	0	0	2	0.0017301	.	.	.	3896534	Developmental_and_epileptic_encephalopathy_104	MONDO:MONDO:0031021,MedGen:C5774183,OMIM:619970	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	0.00219649	0.0032	0	0	0	0	0.0056	0	0	0.000461	12	26028	rs570121404	0.0089	0.0002	0.0057	0.0109	.	0.0030	0.0018	.	.	.	.	.	.	0.0093	.	0	0	.	0.0042	0.0043	0.0040	0.0045	0.0060	0.0040	0.0039	0.0055	0.0053	0.0007	0.0055	0.0039	0.0003	0	0.0113	0	0.0060	0.0033	0.0041	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	392.45	31	chr17	42502811	.	GGCCCCAGTCA	G	392.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.485;DP=206;ExcessHet=0;FS=1.515;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.66;ReadPosRankSum=-0.454;SOR=0.368	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:20,11:31:99:0|1:42502811_GGCCCCAGTCA_G:403,0,806:42502811	6	0	1	0
chr17	42502828	42502828	A	C	exonic	ATP6V0A1	.	nonsynonymous SNV	ATP6V0A1:NM_001378534:exon18:c.A2060C:p.N687T,ATP6V0A1:NM_001378535:exon18:c.A2039C:p.N680T,ATP6V0A1:NM_001378530:exon19:c.A2162C:p.N721T	.	962	558	2	0	0	2	0.00178891	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00239617	0.0032	0	0	0	0	0.0056	0	0	0.0003687	57	154602	rs558702963	0.0091	0.0002	0.0057	0.0115	.	0.0031	0.0019	.	.	.	.	.	.	0.0093	.	0	0	0	0.0042	0.0043	0.0040	0.0045	0.0060	0.0040	0.0039	0.0055	0.0053	0.0007	0.0055	0.0039	0.0003	0	0.0113	0	0.0060	0.0033	0.0041	.	.	.	0.469	0.12281	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-2.17	0.86624	D	.	.	.	.	.	.	.	.	.	.	.	.	0.012643635	0.00271	T	.	.	.	.	.	.	.	0.482983323606	0.47928	.	.	.	.	.	.	.	.	.	.	-0.0298709	0.47436	T	0.187484	0.82426	D	.	.	.	0.270873	0.04565	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.02012	B	.	.	2.833703	0.37365	20.5	0.70975554904476268	0.09473	0.26721	0.23074	N	AEFBI	0.031353	0.03330	N	.	.	.	.	.	.	0.0224984373890735	0.13435	0.372202	0.05800	0	0.546412	0.12157	0	0.54472	0.12158	0	0.714379	0.83352	0	.	.	5.25	3.24	0.36257	1.010000	0.29500	1.810000	0.28954	-0.156000	0.11795	1.000000	0.71638	0.943000	0.28828	0.997000	0.79791	0.1508:0.6935:0.0:0.1558	6.470	0.21205	165	0.93588	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	391.53	31	chr17	42502828	.	A	C	391.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.744;DP=191;ExcessHet=0;FS=1.515;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.63;ReadPosRankSum=-0.145;SOR=0.368	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:20,11:31:99:0|1:42502811_GGCCCCAGTCA_G:402,0,807:42502811	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|1:17,14:31:99:0|1:43209572_C_T:349,0,474:43209572	4	0	2	1
chr17	47283385	47283385	T	G	exonic	ITGB3	.	nonsynonymous SNV	ITGB3:NM_000212:exon3:c.T197G:p.L66R	Bleeding disorder, platelet-type, 16, autosomal dominant, Autosomal dominant;Glanzmann thrombasthenia, Autosomal recessive;Purpura, posttransfusion (3);Thrombocytopenia, neonatal alloimmune (3)	0	1521	1	0	0	1	0.000328623	.	.	.	684682	Glanzmann_thrombasthenia|not_specified|not_provided|Abnormal_bleeding|Thrombocytopenia|ITGB3-related_disorder	MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:849|MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0001892,Human_Phenotype_Ontology:HP:0004830,Human_Phenotype_Ontology:HP:0004834,Human_Phenotype_Ontology:HP:0004849,Human_Phenotype_Ontology:HP:0004862,Human_Phenotype_Ontology:HP:0004865,Human_Phenotype_Ontology:HP:0008183,MedGen:C1458140|Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034|.	reviewed_by_expert_panel	Benign	.	.	.	.	.	.	.	.	0.630	0.15437004703	0.0016	0.00119808	0.0017	0.0002	0.0010	0	0.0029	0.0021	0.0033	0.0016	0.0017011	263	154602	rs36080296	0.0024	0.0025	0.0026	0.0023	0.0028	0.0024	0.0024	0.0027	0.0027	0.0003	0.0013	3.826e-05	0	0.0037	0.0003	0.0028	0.0014	0.0017	0.0015	0.0015	0.0016	0.0015	0.0025	0.0014	0.0013	0.0022	0.0021	0.0004	0.0011	0.0007	0	0.0002	0.0022	0	0.0025	0.0019	0.0010	0.088	0.32296	T	0.58	0.09267	T	0.998	0.73220	D	0.96	0.70309	D	0.000008	0.62929	D	0.066772	0.999999	0.58761	D	2.25	0.63811	M	-3.06	0.92457	D	-2.2	0.49519	N	0.677	0.68429	0.601	0.91912	D	0.776	0.92374	D	10	0.02309513	0.00594	T	0.15437	0.83549	D	.	.	.	.	0.96512825719	0.96475	0.9514806519857708	0.95132	1.50929627035	0.87199	0.58632171154	0.50976	T	0.760859	0.93521	D	0.107986	0.65142	D	0.377722	0.91350	D	0.0135405335548524	0.00249	T	0.537746	0.18100	T	0.5600924	0.70515	0.48985773	0.70485	0.597367	0.72550	0.38153484	0.63160	-7.067	0.54522	T	0.5780206483829551	0.64492	0.113	0.24363	B	.;.	.;.	4.509234	0.70594	25.5	0.99654188591146098	0.77505	0.98545	0.83931	D	AEFDBI	0.819445	0.74047	D	0.71502907231454	0.80619	7.334223	0.719860619696895	0.83889	8.141065	0.999999965017018	0.74766	0.706548	0.73137	0	0.614415	0.52539	0	0.573888	0.23631	0	0.714379	0.83352	0	.	.	5.88	5.88	0.94564	6.252000	0.72400	5.013000	0.46685	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	14.22	0.65364	716	0.55970	Integrin beta N-terminal|Integrin beta subunit, VWA domain|PSI domain;Integrin beta N-terminal|Integrin beta subunit, VWA domain|PSI 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	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	947.44	95	chr17	47283385	.	T	G	947.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.5;DP=302;ExcessHet=0;FS=2.678;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.97;ReadPosRankSum=0.041;SOR=0.983	GT:AD:DP:GQ:PL	0/1:52,43:95:99:958,0,1156	6	0	1	0
chr17	47361422	47361422	C	T	exonic	EFCAB13	.	stopgain	EFCAB13:NM_152347:exon10:c.C706T:p.R236X	.	431	1062	27	2	0	31	0.0143852	.	.	.	3192602	EFCAB13-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	.	.	0.0075	0.00339457	0.0077	0.0024	0.0079	0.0003	0.0065	0.0112	0.0066	0.0012	0.0076519	1183	154602	rs78865644	0.0097	0.0097	0.0098	0.0096	0.0125	0.0096	0.0095	0.0109	0.0109	0.0018	0.0083	0.0136	0.0003	0.0059	0.0125	0.0111	0.0088	0.0012	0.0077	0.0077	0.0081	0.0074	0.0124	0.0074	0.0072	0.0110	0.0104	0.0019	0.0187	0.0124	0.0147	0.0010	0.0062	0.0103	0.0106	0.0204	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	0.757225	0.09652	N	0.836029	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.149	0.15187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178511	0.71906	D	0.495319	0.94515	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	8.038640	0.97114	37	0.99557563353057499	0.71583	0.46490	0.27771	N	AEFDBI	0.122007	0.23694	N	0.175533014441431	0.50026	3.196723	-0.0692286709326317	0.36669	2.136995	2.63050267202011E-6	0.01202	0.638212	0.43195	0	0.670034	0.63936	0	0.618467	0.43123	0	0.567892	0.33627	0	.	.	3.78	1.68	0.23219	1.498000	0.35268	0.440000	0.18415	-0.257000	0.07002	0.959000	0.33545	0.000000	0.08366	0.553000	0.30245	0.221:0.6593:0.0:0.1197	4.419	0.10897	540	0.73006	.	.	.	.	.	rs78865644	Likely benign	0	0	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	0.014602	0.030303	0.013587	0.017544	0.000000	0.008621	0.009146	0.003788	0.07143	637.83	68	chr17	47361422	.	C	T	637.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.157;DP=241;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.38;ReadPosRankSum=1.47;SOR=0.604	GT:AD:DP:GQ:PL	0/1:37,31:68:99:648,0,812	6	0	1	0
chr17	57106299	57106299	C	A	exonic	AKAP1	.	nonsynonymous SNV	AKAP1:NM_001370424:exon2:c.C835A:p.L279M,AKAP1:NM_001370426:exon2:c.C835A:p.L279M,AKAP1:NM_003488:exon2:c.C835A:p.L279M,AKAP1:NM_001242902:exon3:c.C835A:p.L279M,AKAP1:NM_001242903:exon3:c.C835A:p.L279M,AKAP1:NM_001370423:exon3:c.C835A:p.L279M,AKAP1:NM_001370425:exon3:c.C835A:p.L279M,AKAP1:NM_001370427:exon3:c.C835A:p.L279M	.	428	1091	3	0	0	3	0.001373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.0231336187562	7.7e-05	.	8.242e-05	9.621e-05	8.639e-05	0	0	5.999e-05	0	0.0002	6.47e-05	10	154602	rs369506994	1.847e-05	1.847e-05	1.225e-05	2.475e-05	0.0002	1.265e-05	1.084e-05	0.0001	9.45e-05	0	0	0	0	0	0	9.892e-06	0	0.0002	1.97e-05	1.968e-05	1.285e-05	2.687e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0.0034	2.94e-05	0	0	0.171	0.22746	T	0.212	0.46632	T	0.278	0.32022	B	0.07	0.27859	B	0.497416	0.11989	N	0.777902	1	0.08975	N	1.87	0.49600	L	2.26	0.21291	T	-0.38	0.13805	N	0.131	0.14338	-1.0482	0.14903	T	0.048	0.20632	T	10	0.08365151	0.13936	T	0.023134	0.46083	T	0.024	0.04979	.	.	0.46560685065	0.46186	0.09473865785239671	0.09405	0.28981236803	0.31388	0.317450076342	0.13035	T	0.092653	0.39049	T	-0.424639	0.01599	T	-0.551549	0.17178	T	0.0446492279780526	0.04539	T	0.510849	0.25328	T	0.064271055	0.13619	0.04192242	0.04877	0.064271055	0.13618	0.04192242	0.04877	-4.74	0.35248	T	.	.	0.095	0.20508	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.173043	0.15627	11.99	0.98926564077539314	0.48657	0.82739	0.41926	D	AEFDBI	0.136524	0.25722	N	-0.417667382720664	0.24850	1.344714	-0.434593273863318	0.23988	1.311179	0.999246672420294	0.38873	0.732398	0.92422	0	0.724815	0.89359	0	0.698795	0.65105	0	0.727631	0.95156	0	.	.	5.72	2.16	0.26663	0.899000	0.28049	0.829000	0.21929	0.599000	0.40250	0.747000	0.29101	0.011000	0.20116	0.016000	0.10718	0.0:0.6989:0.1366:0.1645	8.008	0.29497	67	0.97183	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1110.44	100	chr17	57106299	.	C	A	1110.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.365;DP=431;ExcessHet=0;FS=0.743;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.1;ReadPosRankSum=1.1;SOR=0.79	GT:AD:DP:GQ:PL	0/1:55,45:100:99:1121,0,1398	6	0	1	0
chr17	58203086	58203086	A	T	exonic	EPX	.	nonsynonymous SNV	EPX:NM_000502:exon11:c.A1714T:p.N572Y	.	1	1414	102	5	0	112	0.0380952	.	.	.	704251	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.714	.	0.0052	0.0131789	0.0097	0.0010	0.0026	0.0404	0.0005	0.0057	0.0100	0.0242	0.0090426	1398	154602	rs2302311	0.0072	0.0072	0.0066	0.0079	0.0356	0.0071	0.0071	0.0341	0.0335	0.0011	0.0028	0.0041	0.0356	0.0005	0.0262	0.0055	0.0089	0.0238	0.0060	0.0060	0.0057	0.0064	0.0363	0.0057	0.0056	0.0320	0.0304	0.0013	0.0175	0.0037	0.0063	0.0363	0.0005	0.0136	0.0064	0.0052	0.0255	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.993	0.81110	D	0.000087	0.51296	D	0.229393	0.999894	0.50595	D	3.395	0.91620	M	-0.89	0.74793	T	-7.26	0.94377	D	0.855	0.85132	0.222	0.86286	D	0.428	0.77055	T	10	0.011209935	0.00246	T	.	.	.	0.714	0.89831	.	.	0.907641921367	0.90672	0.9397424012326949	0.93955	0.60966715383	0.55685	0.618428587914	0.55507	T	0.73717	0.92690	D	0.0215653	0.54591	T	0.293971	0.87906	D	0.0441071641916809	0.04439	T	0.918408	0.70674	D	0.93080324	0.94318	0.9297195	0.97075	0.91762865	0.93020	0.9297195	0.97076	-10.78	0.78437	D	0.6057418395158497	0.67300	0.721	0.73813	P	.	.	4.624316	0.73463	26.0	0.9931117169918775	0.59017	0.98284	0.81251	D	AEFDHI	0.846482	0.76336	D	0.902057263412658	0.91858	11.10306	0.8354303646208	0.92136	11.25628	0.995667577349472	0.34254	0.533608	0.22052	0	0.593476	0.48661	0	0.685742	0.62368	0	0.613276	0.41899	0	.	.	5.83	5.83	0.93059	5.936000	0.69869	9.239000	0.79409	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	1.0:0.0:0.0:0.0	14.155	0.64945	569	0.70546	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.022659	0.010101	0.013587	0.020468	0.000000	0.025862	0.036585	0.037879	0.2143	1365.72	34	chr17	58203086	.	A	T	1365.72	.	AC=3;AF=0.214;AN=14;BaseQRankSum=1.24;DP=244;ExcessHet=1.1394;FS=3.788;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=-0.122;SOR=1.164	GT:AD:DP:GQ:PL	0/1:19,15:34:99:390,0,483	4	0	3	0
chr17	61952973	61952973	C	T	exonic	MED13	.	nonsynonymous SNV	MED13:NM_005121:exon27:c.G6109A:p.A2037T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.219	0.0306703768903	.	.	8.324e-06	0	0	0	0	1.507e-05	0	0	6.5e-06	1	154602	rs759641732	3.423e-06	3.42e-06	2.725e-06	4.129e-06	0.0002	1e-06	7.3e-07	3e-07	1.1e-07	0	0	0	0	0	0.0002	1.799e-06	1.658e-05	1.162e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.578	0.06030	T	0.499	0.11227	T	0.0	0.02946	B	0.002	0.06944	B	0.002935	0.35704	N	0.297423	0.853402	0.28463	N	0	0.06538	N	-1.62	0.82347	D	-0.73	0.20576	N	0.087	0.06454	-0.8010	0.55086	T	0.324	0.69246	T	10	0.033187926	0.01488	T	0.03067	0.52928	D	0.219	0.51417	0.097	0.01334	0.20808081866	0.20439	0.25624729175393485	0.25538	0.840773140511	0.68051	0.229699119925	0.01946	T	0.221259	0.58478	T	-0.139501	0.29970	T	-0.43816	0.29014	T	0.23310443294145	0.22098	T	0.818618	0.47570	T	0.03492677	0.04013	0.048321467	0.07151	0.03492677	0.04013	0.048321467	0.07151	-3.326	0.14074	T	.	.	0.070	0.03301	B	.	.	2.446649	0.31499	18.76	0.75863109879970958	0.11240	0.89252	0.49605	D	AEFBI	0.154754	0.27984	N	-0.438100806856481	0.24146	1.301688	-0.309586738485038	0.27787	1.544457	0.00258711717590143	0.09551	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.38	3.35	0.37468	3.010000	0.49246	2.221000	0.31450	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.718000	0.34707	0.0:0.641:0.0:0.359	7.551	0.26964	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	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	418.83	33	chr17	61952973	.	C	T	418.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.829;DP=192;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=0.487;SOR=0.793	GT:AD:DP:GQ:PL	0/1:16,17:33:99:429,0,401	6	0	1	0
chr17	61968034	61968034	C	G	splicing	MED13	NM_005121:exon18:c.4191+1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.938	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.588e-05	0.0003	2.232e-05	2.945e-05	3.23e-05	1.91e-05	1.667e-05	2.345e-05	2.075e-05	3.058e-05	0	0	0	0	0	3.23e-05	1.685e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.434982	0.91780	D	0.387045	0.91678	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.230299	0.94839	34	0.99425828103495784	0.63984	0.99078	0.90902	D	AEFDGBI	.	.	.	1.18346581302745	0.99385	22.32749	1.03762206024886	0.99231	21.357	0.999999999803192	0.74766	0.156188	0.03335	0	0.156173	0.03658	0	0.128073	0.03558	0	0.089874	0.02613	0	0.978971	0.83387	5.44	5.44	0.79348	7.568000	0.81546	7.706000	0.66547	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	19.245	0.93883	91	0.96221	.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	104.44	22	chr17	61968034	.	C	G	104.44	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-0.463;DP=167;ExcessHet=1.7609;FS=163.355;MLEAC=3;MLEAF=0.3;MQ=60;MQRankSum=0;QD=0.92;ReadPosRankSum=0.325;SOR=7.568	GT:AD:DP:GQ:PL	0/1:15,7:22:8:8,0,220	2	0	3	2
chr17	64065211	64065211	C	T	exonic	ERN1	.	nonsynonymous SNV	ERN1:NM_001433:exon9:c.G919A:p.V307M	.	429	1092	1	0	0	1	0.000457666	0.3725	0.476	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.161	0.0320636065257	8.2e-05	0.000199681	4.227e-05	0.0003	0	0	0	0	0	9.747e-05	3.88e-05	6	154602	rs369579513	1.239e-05	1.71e-05	9.573e-06	1.523e-05	0.0002	7.74e-06	6.39e-06	7.85e-05	5.33e-05	0.0002	0	0	2.53e-05	0	0	3.611e-06	0	8.294e-05	2.628e-05	2.625e-05	2.57e-05	2.688e-05	9.631e-05	8.14e-06	5.14e-06	3.244e-05	1.911e-05	9.631e-05	0	0	0	0	0	0	0	0	0	0.023	0.48186	D	0.065	0.44702	T	0.584	0.38894	P	0.058	0.26451	B	0.000000	0.84330	D	0.000000	0.999988	0.54805	D	1.465	0.36909	L	0.09	0.61443	T	-2.06	0.47175	N	0.308	0.34767	-0.7249	0.59220	T	0.175	0.51943	T	10	0.19276768	0.35019	T	0.032064	0.53992	D	0.161	0.41658	.	.	0.484294873522	0.48060	0.620984225197396	0.62031	0.547155586533	0.51685	0.792421936989	0.80811	T	0.168127	0.51502	T	-0.26206	0.12660	T	-0.313883	0.43241	T	0.0895968283857063	0.11169	T	0.932607	0.74787	D	0.31157193	0.53922	0.18746889	0.41981	0.31157193	0.53922	0.18746889	0.41980	-3.054	0.10775	T	.	.	0.111	0.21390	B	.	.	4.599057	0.72823	25.9	0.99674846910022707	0.78846	0.97594	0.75777	D	AEFDBI	0.686044	0.64784	D	0.24684966893516	0.53482	3.516974	0.313410665694364	0.56328	3.795888	0.99999943932772	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.491896	0.07777	0	.	.	5.37	5.37	0.76949	4.754000	0.61888	5.924000	0.51211	0.599000	0.40250	1.000000	0.71638	0.996000	0.32793	0.263000	0.23594	0.0:0.9262:0.0:0.0738	13.758	0.62435	823	0.40596	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	465.44	54	chr17	64065211	.	C	T	465.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.69;DP=227;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.62;ReadPosRankSum=0.136;SOR=0.826	GT:AD:DP:GQ:PL	0/1:35,19:54:99:476,0,871	6	0	1	0
chr17	75523320	75523320	C	T	exonic	TSEN54	.	nonsynonymous SNV	TSEN54:NM_207346:exon9:c.C1298T:p.P433L	Pontocerebellar hypoplasia type 2A, Autosomal recessive;Pontocerebellar hypoplasia type 4, Autosomal recessive	1	1520	1	0	0	1	0.000328839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.0113416906413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.394	0.10694	T	0.376	0.16182	T	0.0	0.02946	B	0.0	0.01387	B	0.053086	0.22838	N	0.484669	0.991682	0.23998	N	.	.	.	0.12	0.61089	T	-0.38	0.13418	N	0.041	0.01421	-1.0536	0.13413	T	0.066	0.27052	T	10	0.07946989	0.12787	T	0.011342	0.28865	T	0.046	0.12618	0.247	0.18293	0.694207414327	0.69157	0.1259305879821339	0.12519	0.266466125638	0.29189	0.462187886238	0.33610	T	0.011048	0.09905	T	-0.220151	0.17973	T	-0.554008	0.16943	T	0.779536485671997	0.45021	D	0.517048	0.16713	T	0.031009087	0.02865	0.032747485	0.02059	0.031009087	0.02864	0.032747485	0.02058	-4.077	0.24950	T	0.030592412168988687	0.00089	0.075	0.05668	B	.	.	2.303027	0.29470	18.13	0.91603425363988744	0.20887	0.61068	0.31377	D	AEFDBCI	0.041029	0.06184	N	-0.443311022574373	0.23968	1.290843	-0.211543843037219	0.31119	1.758275	0.986292630067243	0.31038	0.706548	0.73137	0	0.724815	0.89359	0	0.643519	0.47002	0	0.699875	0.68795	0	.	.	5.23	4.23	0.49319	2.094000	0.41344	3.947000	0.40646	0.599000	0.40250	0.985000	0.35982	0.999000	0.35428	0.949000	0.49496	0.1857:0.7171:0.0:0.0971	6.297	0.20297	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	.	.	.	.	.	.	.	.	0.07143	1142.45	94	chr17	75523320	.	C	T	1142.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.796;DP=299;ExcessHet=0;FS=3.896;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.15;ReadPosRankSum=-0.688;SOR=0.445	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:47,47:94:99:0|1:75523320_C_T:1153,0,1204:75523320	6	0	1	0
chr17	75573167	75573167	G	A	exonic	LLGL2	.	nonsynonymous SNV	LLGL2:NM_001031803:exon20:c.G2614A:p.D872N,LLGL2:NM_004524:exon20:c.G2614A:p.D872N	.	429	1087	6	0	0	6	0.00275229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.307	0.0256471156263	.	.	3.364e-05	0	8.694e-05	0	0	1.543e-05	0	0.0001	4.53e-05	7	154602	rs544148129	2.259e-05	2.257e-05	2.316e-05	2.202e-05	0.0002	1.611e-05	1.417e-05	4.579e-05	3.272e-05	0	4.473e-05	0	2.519e-05	0	0.0002	1.619e-05	4.969e-05	9.275e-05	3.942e-05	3.939e-05	3.853e-05	4.034e-05	0.0004	1.715e-05	1.129e-05	7.276e-05	3.024e-05	4.825e-05	0	6.54e-05	0	0	0	0	1.47e-05	0	0.0004	0.001	0.78490	D	0.007	0.69154	D	1.0	0.90584	D	0.991	0.79672	D	0.000000	0.84330	D	0.048346	0.999994	0.58761	D	2.31	0.66127	M	3.5	0.05014	T	-3.85	0.72353	D	0.738	0.74189	-1.1288	0.01840	T	0.064	0.26420	T	10	0.84120077	0.83276	D	0.025647	0.48608	D	0.307	0.62838	0.662	0.79996	0.797593618023	0.79571	0.37359713439094694	0.37273	0.78403514646	0.65415	0.664252638817	0.62017	T	0.305217	0.67748	T	-0.273244	0.11397	T	-0.427618	0.30205	T	0.821618318557739	0.47892	D	0.893911	0.63238	D	0.9012901	0.91499	0.63365036	0.78619	0.9012901	0.91500	0.63365036	0.78620	-9.746	0.72377	D	.	.	0.396	0.59336	A	.;.;.	.;.;.	5.806362	0.93636	33	0.99057038409766884	0.51390	0.98004	0.78799	D	AEFDGBHCI	0.945461	0.95379	D	0.71844112702623	0.80841	7.384592	0.652134157610016	0.78770	6.943555	0.99999998322717	0.74766	0.718356	0.82227	0	0.694456	0.67091	0	0.570548	0.19454	0	0.604944	0.38103	0	.	.	4.63	4.63	0.57175	9.940000	0.98890	11.783000	0.96163	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	17.727	0.88274	981	0.03995	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001008	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.007576	0.07143	445.63	44	chr17	75573167	.	G	A	445.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.41;DP=204;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.13;ReadPosRankSum=-0.637;SOR=0.722	GT:AD:DP:GQ:PL	0/1:24,20:44:99:456,0,540	6	0	1	0
chr17	75840272	75840272	G	A	exonic	UNC13D	.	nonsynonymous SNV	UNC13D:NM_199242:exon10:c.C811T:p.P271S	Hemophagocytic lymphohistiocytosis, familial, 3	0	1509	13	0	0	13	0.00428901	.	.	YES	727449	Familial_hemophagocytic_lymphohistiocytosis_3|UNC13D-related_disorder|Autoinflammatory_syndrome|not_specified	MONDO:MONDO:0012146,MedGen:C1837174,OMIM:608898,Orphanet:540|.|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.188	0.0902969129249	0.0005	0.000199681	0.0005	0	0.0002	0	0.0002	0.0004	0	0.0021	0.0004528	70	154602	rs139564938	0.0004	0.0004	0.0003	0.0005	0.0020	0.0004	0.0004	0.0017	0.0016	5.974e-05	4.472e-05	3.826e-05	0	0.0003	0.0009	0.0003	0.0003	0.0020	0.0002	0.0002	0.0002	0.0002	0.0010	0.0002	0.0001	0.0004	0.0003	7.217e-05	0	6.536e-05	0	0	0.0002	0	0.0003	0.0005	0.0010	0.05	0.39575	D	0.0	0.92824	D	0.961	0.55431	D	0.493	0.47443	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.61	0.41143	L	-0.26	0.75553	T	-0.96	0.26200	N	0.593	0.61256	-0.4877	0.69090	T	0.392	0.74583	T	10	0.03374952	0.01560	T	0.090297	0.75492	D	0.188	0.46444	.	.	0.889897263343	0.88881	0.3016775488594237	0.30080	0.509211686747	0.49061	0.605855643749	0.53731	T	0.118391	0.43917	T	-0.177881	0.24050	T	-0.0347663	0.68052	D	0.072971708485082	0.09062	T	0.908909	0.75346	D	0.17823051	0.38832	0.15995055	0.37278	0.17955011	0.39032	0.1412336	0.33639	-11.778	0.83752	D	0.4083759729414983	0.49909	0.348	0.66854	A	.;.;.;.	.;.;.;.	4.630066	0.73600	26.0	0.99915733034069731	0.98379	0.99184	0.92469	D	AEFDBI	0.910861	0.86935	D	0.525613366353833	0.68609	5.240858	0.539581637013468	0.70676	5.540299	0.999999921708331	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.576033	0.28219	0	0.699875	0.68795	0	.	.	4.56	4.56	0.55644	7.527000	0.80826	11.602000	0.93483	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.0:0.0:1.0:0.0	17.527	0.87701	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	0.002518	0.000000	0.000000	0.005848	0.000000	0.000000	0.003049	0.007576	0.07143	970.49	85	chr17	75840272	.	G	A	970.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.704;DP=309;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.42;ReadPosRankSum=1.03;SOR=0.739	GT:AD:DP:GQ:PL	0/1:42,43:85:99:981,0,1013	6	0	1	0
chr17	76009702	76009702	G	A	exonic	EVPL	.	nonsynonymous SNV	EVPL:NM_001320747:exon22:c.C3569T:p.T1190M,EVPL:NM_001988:exon22:c.C3503T:p.T1168M	.	428	1082	12	0	0	12	0.00551471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.00671966571976	0.0015	0.000798722	0.0020	0.0003	0.0017	0	0.0014	0.0030	0.0022	0.0005	0.0018305	283	154602	rs149505943	0.0017	0.0017	0.0016	0.0017	0.0054	0.0016	0.0016	0.0039	0.0034	0.0004	0.0015	0.0010	0.0001	0.0015	0.0054	0.0019	0.0019	0.0006	0.0013	0.0013	0.0014	0.0012	0.0022	0.0012	0.0011	0.0019	0.0018	0.0003	0	0.0012	0.0009	0	0.0011	0.0034	0.0022	0.0005	0.0012	0.107	0.29554	T	0.123	0.39645	T	0.052	0.22494	B	0.004	0.10090	B	0.421143	0.04648	N	1.311150	1	0.08975	N	-0.235	0.03917	N	0.71	0.51228	T	-1.38	0.34198	N	0.108	0.09349	-0.9827	0.34375	T	0.097	0.36393	T	10	0.01211071	0.00262	T	0.00672	0.17756	T	0.052	0.14661	.	.	0.271763555656	0.26798	0.13041537323373056	0.12966	0.195102303501	0.21846	0.218341067433	0.01216	T	0.179364	0.53032	T	-0.670628	0.00054	T	-0.740702	0.03861	T	0.00618340979462972	0.00068	T	0.69743	0.30707	T	0.019573927	0.00490	0.05572513	0.09829	0.019573927	0.00490	0.05572513	0.09828	-5.155	0.38481	T	.	.	0.076	0.06663	B	.;.	.;.	-0.346092	0.02421	0.273	0.91751424161134199	0.21050	0.04602	0.10258	N	AEFDBI	0.133020	0.25254	N	-1.25698212429488	0.04208	0.1895012	-1.36027863212519	0.03686	0.1724602	0.589100319259321	0.21632	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	5.14	-4.79	0.02966	-0.703000	0.05166	-2.582000	0.03583	-0.169000	0.11342	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.5977:0.0:0.4023:0.0	13.913	0.63382	706	0.57215	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006546	0.000000	0.009537	0.002924	0.000000	0.025862	0.006098	0.003788	0.07143	825.53	65	chr17	76009702	.	G	A	825.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.488;DP=254;ExcessHet=0;FS=0.96;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.7;ReadPosRankSum=1.66;SOR=0.507	GT:AD:DP:GQ:PL	0/1:31,34:65:99:836,0,740	6	0	1	0
chr17	78204851	78204851	C	A	exonic	AFMID	.	nonsynonymous SNV	AFMID:NM_001010982:exon6:c.C418A:p.Q140K,AFMID:NM_001145526:exon6:c.C418A:p.Q140K	.	421	1091	10	0	0	10	0.00456204	.	.	.	2233837	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.454	0.103053250932	.	.	8.242e-06	0	0	0	0	0	0	6.057e-05	6.5e-06	1	154602	rs778899836	3.42e-06	3.42e-06	1.361e-06	5.5e-06	0.0003	1e-06	7.3e-07	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	0	3.312e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.024	0.92824	D	0.999	0.77913	D	0.997	0.86255	D	0.000025	0.55875	D	0.120865	1	0.81001	D	3.845	0.95734	H	2.82	0.10871	T	-3.23	0.65056	D	0.95	0.95841	-0.7726	0.56714	T	0.128	0.43645	T	10	0.90703505	0.90068	D	0.103053	0.77688	D	0.454	0.75347	0.766	0.89373	0.613339421354	0.61022	0.8944764325683533	0.89418	0.852806470828	0.68627	0.395668447018	0.24466	T	0.255223	0.62599	T	0.349928	0.86500	D	0.361725	0.90767	D	0.992105007171631	0.82506	D	0.853715	0.53996	D	0.9400682	0.95255	0.83114135	0.90258	0.9400682	0.95255	0.83114135	0.90259	-13.351	0.91068	D	.	.	0.285	0.61398	B	.;.;.	.;.;.	5.102830	0.85272	28.6	0.9956847887903737	0.72258	0.96797	0.70991	D	AEFDGBCI	0.806893	0.73108	D	0.872925807135526	0.90374	10.37413	0.771186402839236	0.87729	9.323855	0.999999767822685	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.635551	0.53088	0	.	.	4.89	4.89	0.63387	6.627000	0.74121	7.455000	0.58998	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.825000	0.38878	0.0:1.0:0.0:0.0	15.994	0.80019	917	0.20147	Alpha/beta hydrolase fold-3;Alpha/beta hydrolase fold-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	.	.	.	.	.	.	.	.	0.07143	1361.44	127	chr17	78204851	.	C	A	1361.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.944;DP=327;ExcessHet=0;FS=2.277;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.72;ReadPosRankSum=-0.09;SOR=0.922	GT:AD:DP:GQ:PL	0/1:69,58:127:99:1372,0,1644	6	0	1	0
chr17	81588991	81588991	C	T	exonic	NPLOC4	.	nonsynonymous SNV	NPLOC4:NM_001369698:exon12:c.G1249A:p.A417T,NPLOC4:NM_017921:exon12:c.G1234A:p.A412T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.00713712276609	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs916787216	1.368e-06	1.368e-06	0	2.751e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.176	0.29843	T	0.995	0.70673	D	0.811	0.58656	P	0.000025	0.55875	D	0.155556	1	0.81001	D	0.895	0.22405	L	.	.	.	-1.06	0.27669	N	0.242	0.27316	-0.6833	0.61220	T	0.262	0.63296	T	9	0.32826155	0.50097	T	0.007137	0.18924	T	0.134	0.36365	0.571	0.69431	0.429154209284	0.42533	0.4896581872256414	0.48885	0.900979474855	0.70637	0.676784276962	0.63808	T	0.056093	0.30190	T	-0.000193912	0.51629	T	-0.238055	0.50988	T	0.787325322628021	0.45515	D	0.950805	0.81197	D	0.24381684	0.47324	0.1947537	0.43115	0.24381684	0.47324	0.1947537	0.43114	-2.479	0.05640	T	.	.	0.224	0.45581	B	.;.	.;.	4.868794	0.79736	27.2	0.99909041205985305	0.97875	0.99438	0.96031	D	AEFBI	0.696670	0.65493	D	0.433373068952642	0.63268	4.557168	0.49327239572064	0.67544	5.098148	0.999999998601701	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.16	5.16	0.70563	5.848000	0.69182	7.498000	0.59452	-0.182000	0.10109	1.000000	0.71638	1.000000	0.68203	0.894000	0.43146	0.0:1.0:0.0:0.0	19.000	0.92807	.	.	Nuclear pore localisation protein NPL4, C-terminal|Nuclear pore localisation protein NPL4, 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	821.44	78	chr17	81588991	.	C	T	821.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.75;DP=258;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.53;ReadPosRankSum=1.17;SOR=0.703	GT:AD:DP:GQ:PL	0/1:40,38:78:99:832,0,916	6	0	1	0
chr18	2891020	2891020	A	G	exonic	EMILIN2	.	nonsynonymous SNV	EMILIN2:NM_032048:exon4:c.A893G:p.Q298R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.0103086064082	.	.	.	.	.	.	.	.	.	.	.	.	.	rs918772885	2.052e-06	2.052e-06	1.361e-06	2.75e-06	2.698e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.338	0.12796	T	0.383	0.15842	T	0.609	0.39586	P	0.168	0.35187	B	0.000704	0.42254	D	0.103673	0.850396	0.28505	N	2.35	0.67516	M	1.36	0.34452	T	-0.4	0.13805	N	0.247	0.27910	-1.0669	0.10108	T	0.057	0.23942	T	10	0.16970602	0.31592	T	0.010309	0.26698	T	0.089	0.25827	0.275	0.22687	0.477143196806	0.47344	0.5191447950736493	0.51837	0.479342070191	0.46975	0.466005176306	0.34133	T	0.017413	0.14211	T	-0.0957432	0.37127	T	-0.375305	0.36270	T	0.622469842433929	0.37307	D	0.605339	0.22755	T	0.08945299	0.20901	0.10226003	0.24504	0.08945299	0.20901	0.10226003	0.24504	-6.214	0.48036	T	.	.	0.125	0.26388	B	.	.	3.602516	0.50895	23.0	0.98367625068482489	0.40709	0.90150	0.51103	D	AEFBI	0.621297	0.60604	D	0.0116547216851968	0.42385	2.552756	0.123411516424961	0.45748	2.832586	0.999877278319371	0.44625	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.566403	0.31848	0	.	.	5.09	3.92	0.44525	3.541000	0.53373	9.213000	0.79249	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.963000	0.52385	0.9232:0.0:0.0768:0.0	10.482	0.43885	889	0.27310	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1121.49	103	chr18	2891020	.	A	G	1121.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.434;DP=287;ExcessHet=0;FS=1.58;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.89;ReadPosRankSum=1.22;SOR=0.606	GT:AD:DP:GQ:PL	0/1:54,49:103:99:1132,0,1389	6	0	1	0
chr18	2937701	2937701	T	C	exonic	LPIN2	.	nonsynonymous SNV	LPIN2:NM_001375808:exon7:c.A1159G:p.K387E,LPIN2:NM_001375809:exon7:c.A1159G:p.K387E,LPIN2:NM_014646:exon7:c.A1159G:p.K387E	Majeed syndrome	0	1479	38	5	0	48	0.0159681	.	.	.	103705	not_specified|Majeed_syndrome|not_provided|Psoriasis|Autoinflammatory_syndrome	MedGen:CN169374|MONDO:MONDO:0012316,MedGen:C1864997,OMIM:609628,Orphanet:77297|MedGen:C3661900|MONDO:MONDO:0005083,MedGen:C0033860,OMIM:PS177900|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.525	.	0.0006	0.00678914	0.0043	0.0001	0.0009	0	0	0.0012	0.0056	0.0257	0.003771	583	154602	rs104895501	0.0023	0.0023	0.0016	0.0031	0.0260	0.0023	0.0022	0.0251	0.0247	0.0003	0.0013	0.0002	5.038e-05	9.37e-05	0.0095	0.0008	0.0025	0.0260	0.0017	0.0017	0.0012	0.0023	0.0295	0.0016	0.0015	0.0255	0.0240	0.0001	0	0.0016	0.0003	0	9.423e-05	0.0034	0.0012	0.0033	0.0295	0.106	0.29688	T	0.365	0.16717	T	0.469	0.36524	P	0.169	0.35248	B	0.000000	0.84330	D	0.042032	0.999997	0.58761	D	2.455	0.71248	M	-1.46	0.80983	T	-2.09	0.47683	N	0.513	0.54409	-0.3239	0.74313	T	0.429	0.77147	T	10	0.008249849	0.00187	T	.	.	.	0.525	0.79886	.	.	0.655422639558	0.65255	0.4558067673782812	0.45498	0.476885664701	0.46806	0.49358445406	0.37935	T	0.096917	0.39921	T	-0.00843234	0.50486	T	0.234708	0.84894	D	0.0146289846892014	0.00302	T	0.927307	0.73215	D	0.23034674	0.45788	0.22966772	0.48045	0.23515597	0.46347	0.27323538	0.53240	-5.471	0.41596	T	0.3718643203656596	0.46728	0.601	0.68900	P	.	.	3.146632	0.42582	21.6	0.99700605470064441	0.80591	0.99098	0.91196	D	AEFBI	0.605472	0.59617	D	0.21220550750028	0.51791	3.357567	0.319439671550726	0.56681	3.831987	0.999999995646822	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.74	5.74	0.90070	5.225000	0.65124	6.120000	0.53774	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.851000	0.40252	0.0:0.0:0.0:1.0	14.621	0.68184	741	0.52966	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008560	0.000000	0.005435	0.008772	0.000000	0.017241	0.006098	0.034091	0.07143	275.63	26	chr18	2937701	.	T	C	275.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.236;DP=196;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.6;ReadPosRankSum=-1.983;SOR=0.512	GT:AD:DP:GQ:PL	0/1:14,12:26:99:286,0,367	6	0	1	0
chr18	9887397	9887397	C	0	exonic	TXNDC2	.	.	.	.	477	317	422	139	167	867	0.524738	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	41684.9	278	chr18	9887397	.	C	*	41684.9	.	AC=2;AF=0.143;AN=14;BaseQRankSum=3.25;DP=2779;ExcessHet=0.0921;FS=0.655;MLEAC=2;MLEAF=0.143;MQ=59.74;MQRankSum=-0.208;QD=19.82;ReadPosRankSum=0.247;SOR=0.633	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:2,118:278:99:.:.:8994,4428,5758:.	5	0	2	0
chr18	12814235	12814235	C	T	exonic	PTPN2	.	nonsynonymous SNV	PTPN2:NM_001308287:exon6:c.G739A:p.A247T,PTPN2:NM_002828:exon7:c.G826A:p.A276T,PTPN2:NM_080422:exon7:c.G826A:p.A276T,PTPN2:NM_080423:exon7:c.G826A:p.A276T,PTPN2:NM_001207013:exon8:c.G895A:p.A299T	.	.	.	.	.	.	.	.	.	.	.	3585126	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.102	0.00876789102268	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1207461588	6.903e-07	3.421e-06	0	1.387e-06	1.18e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.18e-05	1.314e-05	1.314e-05	0	2.691e-05	4.828e-05	2.18e-06	8.2e-07	8e-06	2.99e-06	4.828e-05	0	0	0	0	0	0	0	0	0	0.004	0.65419	D	0.039	0.54934	D	0.535	0.43786	P	0.192	0.37572	B	0.001669	0.38326	N	0.115428	0.999173	0.51042	D	3.2	0.89116	M	3.59	0.08547	T	-3.58	0.69477	D	0.344	0.41261	-1.1337	0.01613	T	0.021	0.08917	T	10	0.35547003	0.52307	T	0.008768	0.23147	T	0.102	0.29158	0.427	0.47350	0.372852800391	0.36900	0.6334288060791295	0.63276	0.105728612331	0.11951	0.501613557339	0.39053	T	0.381024	0.74343	T	-0.0684986	0.41567	T	-0.33617	0.40778	T	0.963272750377655	0.66611	D	0.937806	0.76632	D	0.35962412	0.57807	0.25244695	0.50874	0.35962412	0.57808	0.25244695	0.50873	-9.242	0.69757	D	.	.	0.158	0.47524	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.106374	0.61274	24.3	0.99791293313253737	0.87661	0.97939	0.78280	D	AEFDGBI	0.505265	0.53649	D	0.395752582900315	0.61191	4.316961	0.491495573655148	0.67425	5.082329	0.999999940755575	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.86	5.86	0.93936	3.760000	0.54947	4.855000	0.45413	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1426:0.8574:0.0:0.0	14.969	0.70864	746	0.52331	.;.;.;PTP type protein phosphatase;PTP type protein phosphatase;PTP type protein phosphatase;PTP type protein phosphatase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	60.43	22	chr18	12814235	.	C	T	60.43	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.57;DP=128;ExcessHet=0;FS=9.185;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=2.75;ReadPosRankSum=0.741;SOR=3.477	GT:AD:DP:GQ:PL	0/1:15,7:22:70:70,0,216	5	0	1	1
chr18	14513679	14513679	T	G	exonic	POTEC	.	nonsynonymous SNV	POTEC:NM_001137671:exon10:c.A1516C:p.K506Q	.	1001	337	183	1	0	185	0.215367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.000961216431828	.	.	.	.	.	.	.	.	.	.	8.41e-05	13	154602	rs28606506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.37118	T	0.267	0.22561	T	0.455	0.36245	P	0.137	0.33328	B	.	.	.	.	1	0.08975	N	2.35	0.67516	M	1.38	0.34050	T	0.11	0.05706	N	0.36	0.40164	-1.0459	0.15563	T	0.060	0.25273	T	9	0.10279083	0.18859	T	9.61E-4	0.00980	T	0.021	0.04004	0.44	0.49484	0.191931220699	0.18833	0.008575884169956268	0.00821	.	.	0.661467790604	0.61620	T	0.009409	0.08568	T	-0.232587	0.16309	T	-0.571872	0.15279	T	0.115140116944907	0.13948	T	0.559044	0.19511	T	0.0817621	0.18801	0.04864013	0.07268	0.0817621	0.18801	0.04864013	0.07268	-3.826	0.21193	T	.	.	0.126	0.26545	B	.	.	1.424813	0.18423	13.73	0.59010782571540543	0.06124	0.01638	0.05273	N	AEFI	0.034532	0.04293	N	-0.924811265974744	0.10264	0.4896489	-1.10812489953313	0.07544	0.3673648	1.29605380073252E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.53	-0.976	0.09761	1.060000	0.30139	.	.	0.332000	0.19570	0.003000	0.16062	0.000000	0.08366	0.028000	0.12845	0.0:0.4792:0.0:0.5208	4.177	0.09818	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4286	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	0/1:100,27:127:99:563,0,2619	1	0	6	0
chr18	23529225	23529225	C	T	exonic	RMC1	.	nonsynonymous SNV	RMC1:NM_001318707:exon12:c.C872T:p.P291L,RMC1:NM_001276342:exon13:c.C1199T:p.P400L,RMC1:NM_001318709:exon13:c.C1199T:p.P400L,RMC1:NM_001318708:exon14:c.C872T:p.P291L,RMC1:NM_013326:exon15:c.C1343T:p.P448L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.00461457738329	.	.	8.248e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs780377353	1.642e-05	1.71e-05	1.634e-05	1.65e-05	2.987e-05	1.111e-05	9.33e-06	1.295e-05	1.106e-05	2.987e-05	0	0	0	0	0	1.978e-05	1.656e-05	0	3.286e-05	3.284e-05	2.57e-05	4.035e-05	6.544e-05	1.261e-05	7.98e-06	1.171e-05	6.25e-06	2.413e-05	0	6.544e-05	0	0	0	0	4.41e-05	0	0	0.297	0.14645	T	0.081	0.41742	T	0.317	0.32920	B	0.018	0.18489	B	0.000000	0.84330	D	0.054438	1	0.81001	D	.	.	.	.	.	.	-2.1	0.47852	N	0.431	0.47022	-0.6856	0.61113	T	0.228	0.59296	T	9	0.26562744	0.44061	T	0.004615	0.11409	T	0.125	0.34456	0.379	0.39482	0.143184338766	0.13958	0.40891642257278565	0.40807	0.385089870222	0.39798	.	.	.	0.028988	0.28678	T	0.00620118	0.52506	T	-0.165223	0.57878	T	0.788753032684326	0.45608	D	0.90391	0.68723	D	0.075735055	0.17083	0.11272853	0.27202	0.075735055	0.17083	0.11272853	0.27202	-3.081	0.11079	T	.	.	0.199	0.42244	B	.;.;.	.;.;.	3.221468	0.43898	21.8	0.98632481877783862	0.43933	0.98109	0.79674	D	AEFDGBHCI	0.798937	0.72534	D	0.381054060712874	0.60397	4.228055	0.470999850835212	0.66075	4.905263	1.0	0.98316	0.67177	0.52595	0	0.702456	0.74545	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.71	5.71	0.89031	5.786000	0.68654	4.010000	0.41153	-0.182000	0.10109	1.000000	0.71638	0.999000	0.35428	0.790000	0.37311	0.0:1.0:0.0:0.0	19.858	0.96765	850	0.35610	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	531.83	46	chr18	23529225	.	C	T	531.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.45;DP=205;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.56;ReadPosRankSum=0.033;SOR=0.706	GT:AD:DP:GQ:PL	0/1:24,22:46:99:542,0,521	6	0	1	0
chr18	31522209	31522209	C	T	exonic	DSG2	.	nonsynonymous SNV	DSG2:NM_001943:exon6:c.C650T:p.T217I	Arrhythmogenic right ventricular dysplasia 10, Autosomal dominant;Cardiomyopathy, dilated, 1BB	0	1518	3	1	0	5	0.0016442	.	.	YES	410345	not_provided|Arrhythmogenic_right_ventricular_cardiomyopathy|Cardiomyopathy|Arrhythmogenic_right_ventricular_dysplasia_10	MedGen:C3661900|MONDO:MONDO:0016587,MeSH:D019571,MedGen:C0349788,Orphanet:247|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0012434,MedGen:C1857777,OMIM:610193	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.493	0.0560749549383	.	.	.	.	.	.	.	.	.	.	.	.	.	rs776720174	7.526e-06	7.524e-06	6.808e-06	8.252e-06	0.0012	4.04e-06	2.95e-06	0.0006	0.0004	0	0	0	0	0	0.0012	8.995e-07	4.969e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.989	0.78396	D	0.000454	0.44317	D	0.097855	0.999779	0.48980	D	3.95	0.96445	H	0.36	0.57880	T	-5.05	0.82700	D	0.748	0.74735	0.443	0.89725	D	0.536	0.82825	D	10	0.841125	0.83269	D	0.056075	0.66470	D	0.493	0.77910	0.705	0.84145	0.933454792682	0.93276	0.7977416632705	0.79727	0.431880939592	0.43375	0.668151736259	0.62574	T	0.636464	0.88798	D	0.31377	0.84023	D	0.212932	0.83814	D	0.999111950397491	0.96225	D	0.748325	0.39577	T	0.8439963	0.86895	0.77826494	0.86923	0.8439963	0.86897	0.77826494	0.86924	-11.272	0.81129	D	0.8399998077326192	0.90874	0.708	0.79432	P	.;.	.;.	4.436079	0.68840	25.3	0.93127623786225344	0.22766	0.99086	0.91019	D	AEFBI	0.658037	0.62945	D	0.966459544437244	0.94615	12.899	0.85051639811843	0.93045	11.79062	0.999968604307842	0.48965	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.564101	0.26826	0	.	.	5.53	4.61	0.56724	4.473000	0.59928	6.004000	0.52535	0.596000	0.33519	0.999000	0.42656	1.000000	0.68203	0.997000	0.79791	0.1324:0.8676:0.0:0.0	16.316	0.82761	744	0.52588	Cadherin-like|Cadherin-like;Cadherin-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	1087.46	125	chr18	31522209	.	C	T	1087.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.858;DP=308;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.7;ReadPosRankSum=-1.53;SOR=0.647	GT:AD:DP:GQ:PL	0/1:70,55:125:99:1098,0,1659	6	0	1	0
chr18	31541297	31541297	G	A	exonic	DSG2	.	nonsynonymous SNV	DSG2:NM_001943:exon13:c.G1984A:p.A662T	Arrhythmogenic right ventricular dysplasia 10, Autosomal dominant;Cardiomyopathy, dilated, 1BB	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.426	0.0891150511824	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1186896680	1.368e-06	1.368e-06	2.723e-06	0	2.236e-05	2.3e-07	9e-08	.	.	0	2.236e-05	0	0	0	0	8.995e-07	0	0	6.575e-06	6.568e-06	1.285e-05	0	6.549e-05	0	0	.	.	0	0	6.549e-05	0	0	0	0	0	0	0	0.0	0.91255	D	0.021	0.58089	D	1.0	0.90584	D	0.999	0.92359	D	0.000006	0.62929	D	0.000000	0.999817	0.49394	D	3.05	0.86762	M	-0.92	0.75108	T	-3.52	0.68412	D	0.56	0.58458	0.372	0.88677	D	0.658	0.88122	D	10	0.69900656	0.72324	D	0.089115	0.75265	D	0.426	0.73372	0.21	0.12781	0.956247277456	0.95578	0.9288824395156199	0.92866	0.414509619234	0.42131	0.434575915337	0.29834	T	0.621993	0.88164	D	0.0720377	0.61095	D	-0.051434	0.66924	D	0.993339002132416	0.84094	D	0.858914	0.54988	D	0.6406292	0.74865	0.679	0.81137	0.6406292	0.74866	0.679	0.81138	-8.715	0.65844	D	0.8609242873125713	0.92441	0.562	0.67302	A	.	.	4.707566	0.75589	26.4	0.99913393119932348	0.98238	0.99258	0.93561	D	AEFBI	0.734853	0.68086	D	0.925276561188041	0.92941	11.723	0.887186071652214	0.94988	13.21417	0.999999990424555	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.86	5.86	0.93936	6.638000	0.74166	11.800000	0.96626	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:1.0:0.0	20.563	0.99337	702	0.57624	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	556.67	26	chr18	31541297	.	G	A	556.67	.	AC=4;AF=0.5;AN=8;BaseQRankSum=-0.963;DP=269;ExcessHet=4.1913;FS=371.42;MLEAC=5;MLEAF=0.625;MQ=60;MQRankSum=0;QD=2.61;ReadPosRankSum=1.51;SOR=8.977	GT:AD:DP:GQ:PL	0/1:17,9:26:68:68,0,201	0	0	4	3
chr18	32268202	32268202	T	C	exonic	GAREM1	.	nonsynonymous SNV	GAREM1:NM_001242409:exon6:c.A2300G:p.Y767C,GAREM1:NM_022751:exon6:c.A2297G:p.Y766C	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.0100584642603	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1419703747	6.84e-07	6.84e-07	0	1.375e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	6.574e-06	6.568e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.006	0.61437	D	0.118	0.36233	T	1.0	0.90584	D	0.987	0.77487	D	0.017609	0.27680	N	0.379901	0.988189	0.40718	D	.	.	.	2.48	0.14657	T	-1.18	0.30140	N	0.296	0.33469	-1.0716	0.09065	T	0.038	0.16419	T	10	0.077094704	0.12125	T	0.010058	0.26146	T	0.059	0.16972	0.202	0.11659	0.043077524339	0.03247	0.32884518335898283	0.32797	0.584972676535	0.54155	0.515281200409	0.40963	T	0.013953	0.11972	T	-0.179978	0.23738	T	-0.496303	0.22730	T	0.684990108013153	0.40017	D	0.858314	0.54891	D	0.14650318	0.33535	0.120307125	0.29035	0.14650318	0.33534	0.120307125	0.29034	-3.098	0.11308	T	.	.	0.082	0.08754	B	.;.	.;.	3.070437	0.41265	21.3	0.99627329802942177	0.75837	0.92940	0.56923	D	AEBI	0.222077	0.34661	N	-0.114597253347943	0.36755	2.128963	-0.00458251794571732	0.39509	2.343546	0.0312394659058891	0.13990	0.562547	0.31514	0	0.59043	0.45803	0	0.608884	0.39905	0	0.620846	0.47308	0	.	.	5.47	3.07	0.34476	2.231000	0.42654	1.916000	0.29678	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.1406:0.0:0.8594	9.766	0.39726	817	0.41665	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	941.49	77	chr18	32268202	.	T	C	941.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.707;DP=292;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.23;ReadPosRankSum=-0.291;SOR=0.641	GT:AD:DP:GQ:PL	0/1:38,39:77:99:952,0,889	6	0	1	0
chr18	35254064	35254064	G	T	exonic	ZSCAN30	.	nonsynonymous SNV	ZSCAN30:NM_001288711:exon2:c.C310A:p.Q104K,ZSCAN30:NM_001112734:exon4:c.C871A:p.Q291K,ZSCAN30:NM_001166012:exon5:c.C871A:p.Q291K	.	423	1084	14	1	0	16	0.00732601	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.00445161109776	0.0007	0.000399361	0.0010	0.0004	0.0010	0.0001	0	0.0008	0.0044	0.0027	0.0007633	118	154602	rs200557192	0.0006	0.0006	0.0005	0.0006	0.0033	0.0005	0.0005	0.0022	0.0020	0.0003	0.0011	0.0112	5.038e-05	0	0.0033	0.0001	0.0013	0.0024	0.0006	0.0006	0.0005	0.0006	0.0012	0.0005	0.0004	0.0008	0.0007	0.0003	0	0.0012	0.0101	0	0	0.0034	0.0001	0.0014	0.0010	0.22	0.18956	T	0.001	0.83351	D	0.007	0.14184	B	0.004	0.10090	B	0.031148	0.01731	N	2.579110	1	0.08975	N	0.345	0.11182	N	3.22	0.07024	T	-0.5	0.15782	N	0.038	0.03841	-0.9500	0.40972	T	0.018	0.07234	T	10	0.004678905	0.00098	T	0.004452	0.10906	T	0.087	0.25287	.	.	0.192905019026	0.18896	0.09423561573448652	0.09355	0.0405796550883	0.04348	0.22519916296	0.01632	T	0.00645	0.05881	T	-0.624422	0.00103	T	-0.674019	0.07353	T	0.00146768635585137	0.00015	T	0.754025	0.65732	T	0.04908599	0.08660	0.047715608	0.06934	0.04908599	0.08659	0.047715608	0.06933	-6.294	0.48674	T	.	.	0.084	0.13597	B	.;.;.;.	.;.;.;.	1.293665	0.16946	12.86	0.83592685452024917	0.14810	0.15546	0.18964	N	AEFBHCI	0.112403	0.22218	N	-0.972038934576846	0.09205	0.4346647	-1.0216487632626	0.09310	0.4624355	0.0870500447073629	0.16024	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.636168	0.56350	0	.	.	4.16	-1.74	0.07622	2.120000	0.41591	1.209000	0.24893	0.665000	0.62972	0.086000	0.22486	0.001000	0.17328	0.798000	0.37648	0.0:0.2641:0.3305:0.4054	7.975	0.29308	849	0.35778	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.008621	0.003049	0.000000	0.07143	1042.49	101	chr18	35254064	.	G	T	1042.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.55;DP=283;ExcessHet=0;FS=2.594;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.32;ReadPosRankSum=2.01;SOR=0.974	GT:AD:DP:GQ:PL	0/1:56,45:101:99:1053,0,1351	6	0	1	0
chr18	46522163	46522163	G	A	exonic	LOXHD1	.	nonsynonymous SNV	LOXHD1:NM_001308013:exon12:c.C1402T:p.R468C,LOXHD1:NM_001145472:exon14:c.C1690T:p.R564C,LOXHD1:NM_001384474:exon32:c.C5023T:p.R1675C,LOXHD1:NM_144612:exon32:c.C5023T:p.R1675C	Deafness, autosomal recessive 77, Autosomal recessive	0	1503	17	2	0	21	0.00693756	.	.	YES	176696	not_provided|not_specified|LOXHD1-related_disorder|Autosomal_recessive_nonsyndromic_hearing_loss_77	MedGen:C3661900|MedGen:CN169374|.|MONDO:MONDO:0013119,MedGen:C2746083,OMIM:613079,Orphanet:90636	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.069	0.0568717274974	0.0009	0.00139776	0.0014	0	0.0050	0	0	0.0022	0.008	0.0011	0.0004075	63	154602	rs201060702	0.0009	0.0009	0.0009	0.0010	0.0133	0.0009	0.0009	0.0109	0.0100	0.0002	0.0039	0.0035	5.596e-05	2.03e-05	0.0133	0.0007	0.0018	0.0010	0.0015	0.0015	0.0013	0.0017	0.0067	0.0014	0.0013	0.0057	0.0053	0.0003	0	0.0067	0.0049	0.0006	0	0.0102	0.0011	0.0066	0.0008	0.096	0.31088	T	0.057	0.46406	T	0.035	0.20614	B	0.009	0.14300	B	0.020273	0.27075	N	0.406010	0.68734	0.46125	D	.	.	.	-1.28	0.79376	T	-0.39	0.13611	N	0.14	0.19861	-0.6381	0.63226	T	0.304	0.67510	T	10	0.00919342	0.00208	T	0.056872	0.66763	D	0.069	0.20116	.	.	0.313818047136	0.31001	0.534502114996786	0.53375	.	.	0.270033061504	0.06145	T	0.056588	0.30328	T	-0.459099	0.00996	T	-0.432111	0.29695	T	0.0149584551504563	0.00320	T	0.826617	0.49005	T	0.08115871	0.18635	0.03569047	0.02870	0.07750342	0.17595	0.048399005	0.07179	-7.248	0.56693	T	.	.	0.062	0.01692	B	.;.;.;.;.;.	.;.;.;.;.;.	2.516742	0.32515	19.06	0.89171308905943658	0.18570	0.55066	0.29771	D	AEFDI	0.183585	0.31092	N	-0.476686026050953	0.22846	1.22277	-0.405899172129306	0.24824	1.361543	0.00802369938460465	0.11595	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.01	2.65	0.30588	1.046000	0.29964	3.493000	0.38728	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.078000	0.17132	0.4715:0.223:0.3055:0.0	4.792	0.12623	934	0.15400	PLAT/LH2 domain|PLAT/LH2 domain|PLAT/LH2 domain;.;.;.;PLAT/LH2 domain|PLAT/LH2 domain|PLAT/LH2 domain;PLAT/LH2 domain|PLAT/LH2 domain|PLAT/LH2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009569	0.005319	0.000000	0.008696	0.000000	0.000000	0.023256	0.000000	0.07143	1025.44	69	chr18	46522163	.	G	A	1025.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.18;DP=246;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.86;ReadPosRankSum=0.043;SOR=0.587	GT:AD:DP:GQ:PL	0/1:29,40:69:99:1036,0,616	6	0	1	0
chr18	47033749	47033749	G	A	exonic	ELOA2	.	nonsynonymous SNV	ELOA2:NM_016427:exon1:c.C1516T:p.R506C	.	408	1106	8	0	0	8	0.0036036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00139184920862	.	.	1.658e-05	0	0	0	0	3.017e-05	0	0	1.29e-05	2	154602	rs533499836	6.157e-06	6.156e-06	2.722e-06	9.626e-06	0.0007	2.9e-06	2.1e-06	0.0002	0.0001	0	0	0	0	0	0.0007	4.496e-06	0	0	1.314e-05	1.313e-05	2.568e-05	0	6.541e-05	2.18e-06	8.2e-07	.	.	0	0	6.541e-05	0	0	0	0	1.47e-05	0	0	0.046	0.40573	D	0.182	0.37310	T	0.062	0.23277	B	0.015	0.17295	B	0.726876	0.06346	N	1.160920	1	0.18198	N	1.445	0.36358	L	2.86	0.10482	T	-4.47	0.77881	D	0.119	0.17140	-0.9862	0.33542	T	0.017	0.07092	T	10	0.06668037	0.09181	T	0.001392	0.02037	T	0.021	0.04004	0.302	0.27003	0.0297737177859	0.01360	0.4679941604203779	0.46718	0.0512016197912	0.05634	0.329503953457	0.14859	T	0.117283	0.43725	T	-0.291082	0.09527	T	-0.640409	0.09639	T	0.104694277048111	0.12865	T	0.738226	0.43180	T	0.08924891	0.20846	0.14267254	0.33935	0.08924891	0.20845	0.14267254	0.33934	-6.769	0.52328	T	.	.	0.090	0.16582	B	.;.	.;.	0.196185	0.05818	2.258	0.74170773348319163	0.10596	0.00848	0.03390	N	AEFDBI	0.042241	0.06528	N	-1.871286043764	0.00393	0.01689798	-1.99724728819432	0.00310	0.01370406	0.196827853792047	0.18070	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	2.1	-4.2	0.03562	-0.709000	0.05132	-2.121000	0.04181	-0.864000	0.02607	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1104:0.2748:0.3409:0.2739	2.011	0.03276	771	0.49057	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	879.83	82	chr18	47033749	.	G	A	879.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.262;DP=256;ExcessHet=0;FS=0.813;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.73;ReadPosRankSum=1.59;SOR=0.793	GT:AD:DP:GQ:PL	0/1:42,40:82:99:890,0,933	6	0	1	0
chr18	49906490	49906490	C	G	exonic	MYO5B	.	nonsynonymous SNV	MYO5B:NM_001080467:exon19:c.G2343C:p.K781N	Microvillus inclusion disease, Autosomal recessive	0	1493	28	1	0	30	0.00994695	.	.	.	715996	not_provided|Congenital_microvillous_atrophy|MYO5B-related_disorder|not_specified	MedGen:C3661900|MONDO:MONDO:0009635,MedGen:C0341306,OMIM:251850,Orphanet:2290|.|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.313	0.0525798051025	0.0016	0.00199681	0.0025	0.0005	0.0024	0	0.0003	0.0033	0.0067	0.0028	0.0024256	375	154602	rs61737448	0.0022	0.0022	0.0021	0.0023	0.0206	0.0021	0.0021	0.0176	0.0165	0.0014	0.0036	0.0272	0	0.0001	0.0206	0.0014	0.0050	0.0031	0.0020	0.0020	0.0020	0.0019	0.0028	0.0018	0.0017	0.0021	0.0019	0.0004	0	0.0028	0.0222	0	0.0002	0.0136	0.0019	0.0085	0.0027	0.002	0.72154	D	0.018	0.59732	D	0.002	0.09854	B	0.021	0.19346	B	0.114863	0.19258	N	0.557292	0.963049	0.26041	N	2.095	0.58118	M	-3.68	0.95282	D	-2.12	0.48184	N	0.512	0.54322	0.358	0.88460	D	0.733	0.90873	D	10	0.008488208	0.00192	T	0.05258	0.65129	D	0.313	0.63482	0.744	0.87570	0.854352048779	0.85295	0.5485949372223983	0.54785	0.277704376549	0.30248	0.389565467834	0.23609	T	0.147108	0.48503	T	-0.286034	0.10038	T	-0.187323	0.55841	T	0.0109958148807864	0.00158	T	0.953005	0.82069	D	0.27600676	0.50663	0.22935852	0.48005	0.27600676	0.50663	0.22935852	0.48004	-9.57	0.71294	D	0.1995306644029128	0.26456	0.403	0.59755	A	.	.	2.772506	0.36392	20.2	0.99594834571776047	0.73807	0.23225	0.22006	N	AEFBI	0.151852	0.27642	N	-0.44947611632423	0.23757	1.278057	-0.410507502553218	0.24689	1.353386	0.00767721798434629	0.11520	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.42	3.04	0.34171	0.479000	0.21938	0.072000	0.14274	0.599000	0.40250	0.001000	0.13787	0.001000	0.17328	0.305000	0.24618	0.0:0.7006:0.0:0.2994	9.320	0.37124	933	0.16026	IQ motif, EF-hand binding site|IQ motif, EF-hand binding site|IQ motif, EF-hand binding site	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.017137	0.025253	0.019022	0.032164	0.000000	0.008621	0.009146	0.007576	0.07143	454.46	69	chr18	49906490	.	C	G	454.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.505;DP=251;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.59;ReadPosRankSum=0.309;SOR=0.794	GT:AD:DP:GQ:PL	0/1:45,24:69:99:465,0,1195	6	0	1	0
chr18	51177112	51177112	A	G	exonic	MEX3C	.	nonsynonymous SNV	MEX3C:NM_016626:exon2:c.T1219C:p.F407L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.487	0.0253137631567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.113e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.075	0.47097	T	0.997	0.70673	D	0.97	0.72226	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.82	0.82106	M	1.12	0.38718	T	-5.52	0.85994	D	0.706	0.72477	-0.6365	0.63295	T	0.251	0.62073	T	10	0.7858712	0.78241	D	0.025314	0.48293	D	0.487	0.77528	0.449	0.50957	0.730059074749	0.72765	.	.	1.28565786633	0.82653	0.864578425884	0.91784	D	0.402891	0.75979	T	0.233233	0.77025	D	0.0972472	0.76725	D	0.982453107833862	0.74501	D	0.911209	0.68535	D	0.6268725	0.74131	0.5983521	0.76673	0.6268725	0.74132	0.5983521	0.76674	-9.398	0.70223	D	.	.	0.999	0.98504	P	.;.	.;.	5.110104	0.85422	28.6	0.99866937388056276	0.94457	0.99359	0.94992	D	AEFBI	0.900400	0.84589	D	0.849071139545032	0.89055	9.816957	0.851133728241547	0.93083	11.813	0.999999999990326	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.97	5.97	0.96935	9.325000	0.96006	11.284000	0.91844	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	15.443	0.74935	881	0.29269	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2143	799.05	77	chr18	51177112	.	A	G	799.05	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-3.131;DP=548;ExcessHet=1.1394;FS=101.464;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=1.93;ReadPosRankSum=1.44;SOR=8.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:64,13:77:99:0|1:51177112_A_G:279,0,2586:51177112	4	0	3	0
chr18	51177115	51177115	C	T	exonic	MEX3C	.	nonsynonymous SNV	MEX3C:NM_016626:exon2:c.G1216A:p.D406N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.315	0.0371233782211	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1170539047	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.003	0.79402	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.81	0.81869	M	0.8	0.48769	T	-4.82	0.80851	D	0.665	0.72299	-0.4713	0.69679	T	0.319	0.68874	T	10	0.70792806	0.72858	D	0.037123	0.57424	D	0.315	0.63694	0.411	0.44723	0.803544974683	0.80170	.	.	1.72979365526	0.90724	0.81810438633	0.84738	D	0.45612	0.79501	T	-0.0908589	0.37934	T	-0.368289	0.37088	T	0.994576918359117	0.85946	D	0.979702	0.93682	D	0.72907937	0.79671	0.6503769	0.79545	0.72907937	0.79673	0.6503769	0.79545	-7.331	0.56415	T	.	.	0.945	0.86363	P	.;.	.;.	5.416801	0.90641	31	0.99916025942671016	0.98379	0.99021	0.90073	D	AEFBI	0.899214	0.84335	D	0.898058628751112	0.91662	10.99954	0.896553768688559	0.95422	13.60534	0.999999999999997	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.97	5.97	0.96935	7.905000	0.86479	7.718000	0.67175	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.210	0.93737	881	0.29269	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	777.05	77	chr18	51177115	.	C	T	777.05	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-4.434;DP=555;ExcessHet=1.383;FS=99.841;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.85;ReadPosRankSum=1.46;SOR=8.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:64,13:77:99:0|1:51177112_A_G:279,0,2586:51177112	3	0	3	1
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|1:22,7:29:12:0|1:65824683_C_G:12,0,521:65824683	0	0	5	2
chr19	994240	994240	C	T	exonic	WDR18	.	nonsynonymous SNV	WDR18:NM_024100:exon10:c.C1195T:p.R399C,WDR18:NM_001372085:exon12:c.C1195T:p.R399C,WDR18:NM_001372086:exon13:c.C964T:p.R322C	.	371	1148	3	0	0	3	0.00130492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.312	0.479418610981	7.7e-05	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs376924638	3.438e-06	4.788e-06	4.104e-06	2.766e-06	4.505e-06	1.01e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.505e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.67890	D	0.998	0.73220	D	0.828	0.59497	P	0.003809	0.34463	N	0.218604	0.994239	0.42208	D	0.895	0.22405	L	-0.47	0.70133	T	.	.	.	0.37	0.48963	-0.5367	0.67289	T	0.295	0.66688	T	10	0.5586696	0.64663	D	0.479419	0.94816	D	.	.	.	.	0.253981072376	0.25009	0.524628104263146	0.52386	.	.	0.542037129402	0.44733	T	0.01171	0.10405	T	-0.0622693	0.42550	T	-0.327222	0.41777	T	0.914895594120026	0.57171	D	0.872413	0.57909	D	0.12762558	0.29860	0.08303455	0.18998	0.12762558	0.29860	0.08303455	0.18998	-6.52	0.50441	T	.	.	0.116	0.35870	B	.;.	.;.	4.516460	0.70779	25.6	0.99850399521420541	0.93013	0.93897	0.59508	D	AEFBI	0.409738	0.48089	N	0.225032104919866	0.52415	3.415775	0.135637078934461	0.46385	2.885379	0.999983908259525	0.51787	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	4.03	2.92	0.32998	2.116000	0.41553	2.698000	0.34139	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.019000	0.11356	0.3167:0.6833:0.0:0.0	8.264	0.30964	988	0.01987	WD repeat-containing protein 18, C-terminal domain;WD repeat-containing protein 18, 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	1330.83	117	chr19	994240	.	C	T	1330.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.422;DP=301;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.37;ReadPosRankSum=-0.32;SOR=0.724	GT:AD:DP:GQ:PL	0/1:54,63:117:99:1341,0,1103	6	0	1	0
chr19	1106630	1106630	G	A	exonic	GPX4	.	unknown	UNKNOWN	Spondylometaphyseal dysplasia, Sedaghatian type, Autosomal recessive	407	1114	1	0	0	1	0.000448632	.	.	.	3203539	GPX4-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0002	0.000599042	0.0013	0	0	0.0002	0.0027	0.0007	0.0035	0.0050	0.0007956	123	154602	rs372066966	0.0006	0.0006	0.0005	0.0007	0.0038	0.0005	0.0005	0.0035	0.0034	3.009e-05	6.789e-05	7.686e-05	7.629e-05	0.0017	0.0003	0.0003	0.0007	0.0038	0.0006	0.0006	0.0006	0.0007	0.0050	0.0005	0.0005	0.0034	0.0029	2.406e-05	0	0	0	0	0.0014	0	0.0008	0	0.0050	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008014709	0.00182	T	.	.	.	.	.	.	.	0.697169835009	0.69455	.	.	.	.	.	.	.	.	.	.	-0.597227	0.00152	T	-0.630111	0.10407	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.313851	0.17173	13.00	0.86165832599092684	0.16355	0.46263	0.27721	N	AEFDGBHCI	0.568478	0.57364	D	.	.	.	.	.	.	0.999999644465552	0.74766	0.645754	0.44609	0	0.702456	0.74545	0	0.696144	0.63334	0	0.711	0.71501	0	.	.	4.57	-1.38	0.08554	0.624000	0.24156	3.227000	0.36886	-4.128000	0.00041	0.433000	0.26432	1.000000	0.68203	0.000000	0.00833	0.5877:0.0:0.4123:0.0	7.998	0.29443	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	0	0	1	0	.	.	.	.	.	.	.	.	0.07143	627.83	54	chr19	1106630	.	G	A	627.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.2;DP=242;ExcessHet=0;FS=1.05;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.63;ReadPosRankSum=-0.693;SOR=0.46	GT:AD:DP:GQ:PL	0/1:28,26:54:99:638,0,593	6	0	1	0
chr19	1827068	1827068	G	A	exonic	REXO1	.	nonsynonymous SNV	REXO1:NM_020695:exon2:c.C1721T:p.P574L	.	396	1125	1	0	0	1	0.000444247	.	.	.	2375089	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.022	0.00765966961364	.	.	0.0002	0	0	0	.	0.0003	0	0.0001	4.53e-05	7	154602	rs766639191	0.0005	0.0005	0.0006	0.0005	0.0015	0.0005	0.0005	0.0006	0.0006	0.0002	0.0004	0.0002	6.253e-05	0	0.0015	0.0007	0.0006	0.0003	0.0003	0.0003	0.0002	0.0003	0.0007	0.0002	0.0002	0.0004	0.0003	7.253e-05	0	0.0007	0.0003	0	0	0	0.0004	0.0005	0	0.03	0.45393	D	0.112	0.37037	T	0.002	0.09854	B	0.001	0.04355	B	0.006875	0.31745	N	0.304683	1	0.08975	N	0.51	0.13489	N	2.05	0.20664	T	-1.28	0.32185	N	0.219	0.24510	-1.0415	0.16860	T	0.025	0.10553	T	10	0.035160303	0.01753	T	0.00766	0.20325	T	0.022	0.04323	.	.	0.043077524339	0.03247	0.15422662104561646	0.15343	0.100892439271	0.11402	0.511700451374	0.40459	T	0.017334	0.14159	T	-0.275371	0.11164	T	-0.633328	0.10164	T	0.0134908417336021	0.00247	T	0.542746	0.18485	T	0.035125617	0.04074	0.038108926	0.03610	0.035125617	0.04074	0.038108926	0.03609	-5.104	0.37950	T	.	.	0.063	0.01512	B	.	.	1.091923	0.14757	11.30	0.88884890243552717	0.18334	0.29325	0.23791	N	ALL	0.061261	0.11698	N	-0.951055538719948	0.09669	0.4586316	-0.929324024467427	0.11405	0.5807622	0.999999996267667	0.74766	0.646311	0.45356	0	0.577304	0.33150	0	0.584781	0.30282	0	0.699875	0.68795	0	.	.	3.63	-0.076	0.13058	0.321000	0.19306	-0.124000	0.11690	-0.868000	0.02581	0.045000	0.21207	0.000000	0.08366	0.093000	0.17941	0.2563:0.0:0.4475:0.2963	3.031	0.05736	958	0.09170	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004146	0.000000	0.000000	0.000000	0.000000	0.000000	0.009709	0.018519	0.08333	267.57	13	chr19	1827068	.	G	A	267.57	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.448;DP=53;ExcessHet=0;FS=7.16;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=20.58;ReadPosRankSum=0.931;SOR=0.704	GT:AD:DP:GQ:PL	0/1:3,10:13:67:277,0,67	5	0	1	1
chr19	3770925	3770925	C	T	exonic	RAX2	.	nonsynonymous SNV	RAX2:NM_001319074:exon3:c.G251A:p.R84H,RAX2:NM_032753:exon3:c.G251A:p.R84H	Cone-rod dystrophy 11, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1351865	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.778	0.292857392958	.	0.000199681	5.858e-05	0	0	0	0	0.0002	0	0	1.29e-05	2	154602	rs573043030	1.704e-05	2.873e-05	1.407e-05	2.006e-05	3.672e-05	1.153e-05	9.69e-06	1.112e-05	8.96e-06	0	0	0	0	2.868e-05	0	1.739e-05	1.696e-05	3.672e-05	1.97e-05	1.968e-05	2.57e-05	1.343e-05	0.0002	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.942e-05	0	0.0002	.	.	.	0.002	0.79402	D	1.0	0.90584	D	0.995	0.83170	D	0.002327	0.36766	N	0.000000	1	0.81001	D	3.605	0.93784	H	-4.04	0.96465	D	.	.	.	0.2	0.22870	1.095	0.99452	D	0.948	0.98294	D	10	0.45202273	0.58758	T	0.292857	0.90623	D	0.778	0.92583	0.479	0.55823	0.711555273142	0.70903	0.6835687982841732	0.68295	0.0562627764879	0.06214	0.664375782013	0.62035	T	0.869951	0.97183	D	0.320349	0.84495	D	0.222382	0.84294	D	0.947265148162842	0.62644	D	0.89491	0.63503	D	0.50832015	0.67581	0.5103737	0.71705	0.50832015	0.67582	0.5103737	0.71706	-11.259	0.81060	D	0.4642040849125317	0.54585	0.828	0.78969	P	.;.	.;.	3.533346	0.49582	22.8	0.9994807173521576	0.99923	0.45139	0.27472	N	AEFDGBCI	0.311379	0.41713	N	0.578215403791868	0.71815	5.708821	0.426183241635942	0.63203	4.549283	0.999997589803311	0.74766	0.615755	0.39536	0	0.547309	0.14657	0	0.618376	0.41669	0	0.604944	0.38103	0	.	.	3.48	3.48	0.38946	1.340000	0.33501	0.637000	0.20283	0.505000	0.23025	0.995000	0.38783	0.772000	0.26708	0.900000	0.43643	0.0:1.0:0.0:0.0	13.948	0.63608	976	0.04745	Homeobox domain|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|Homeobox domain|Homeobox domain|Homeobox domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	371.44	32	chr19	3770925	.	C	T	371.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.201;DP=219;ExcessHet=0;FS=3.102;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.61;ReadPosRankSum=0.685;SOR=0.307	GT:AD:DP:GQ:PL	0/1:14,18:32:99:382,0,316	6	0	1	0
chr19	4217072	4217072	A	C	exonic	ANKRD24	.	nonsynonymous SNV	ANKRD24:NM_133475:exon18:c.A1912C:p.M638L	.	411	1109	1	1	0	3	0.00135074	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.00504640218788	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs776373172	1.026e-05	1.026e-05	9.53e-06	1.1e-05	5.797e-05	6.16e-06	4.89e-06	2.194e-05	1.43e-05	0	2.238e-05	0	0	0	0	8.095e-06	0	5.797e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.281	0.30800	T	0.537	0.17696	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	1.15	0.29295	L	1.65	0.28391	T	-0.02	0.07299	N	0.264	0.30118	-0.9979	0.30507	T	0.035	0.15247	T	9	0.05561441	0.06105	T	0.005046	0.12753	T	0.017	0.02790	0.155	0.05858	0.0611884634855	0.05136	0.12376812244036062	0.12302	0.241115186296	0.26640	0.250579118729	0.03829	T	5.18E-4	0.07868	T	-0.41468	0.01851	T	-0.732805	0.04201	T	0.0267202405000516	0.01505	T	0.384162	0.09403	T	0.1918849	0.40835	0.100574814	0.24050	0.1918849	0.40835	0.100574814	0.24050	-4.558	0.31982	T	.	.	0.120	0.32324	B	.;.;.;.	.;.;.;.	0.200429	0.05855	2.294	0.72437086918262705	0.09973	0.00357	0.01833	N	AEFBHCI	0.099465	0.20021	N	-1.20272585110442	0.04960	0.2250221	-1.2149644846182	0.05669	0.2707578	1.26733480262554E-6	0.01202	0.634777	0.41761	0	0.633656	0.55848	0	0.643519	0.47002	0	0.604944	0.38103	0	.	.	3.04	0.441	0.15789	-0.336000	0.07908	0.297000	0.16936	0.253000	0.18341	0.004000	0.16614	0.012000	0.20211	0.368000	0.26066	0.7639:0.2361:0.0:0.0	10.028	0.41256	922	0.19044	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1047.44	80	chr19	4217072	.	A	C	1047.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.21;DP=449;ExcessHet=0;FS=2.988;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.09;ReadPosRankSum=-0.712;SOR=0.764	GT:AD:DP:GQ:PL	0/1:40,40:80:99:1058,0,928	6	0	1	0
chr19	4511759	4511759	-	CA	exonic	PLIN4	.	frameshift insertion	PLIN4:NM_001367868:exon5:c.2200_2201insTG:p.C734Lfs*5	.	402	1087	33	0	0	33	0.0149524	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.23e-05	5	154602	rs1370690128	1.388e-06	0.0012	2.762e-06	0	1.814e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.814e-06	0	0	7.242e-05	0.0009	7.724e-05	6.737e-05	0.0004	3.979e-05	3.133e-05	6.847e-05	2.865e-05	9.638e-05	0	0	0	0.0004	0.0002	0	4.42e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	306.4	149	chr19	4511759	.	C	CCA	306.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.66;DP=2444;ExcessHet=0;FS=18;MLEAC=1;MLEAF=0.071;MQ=57.39;MQRankSum=-11.33;QD=2.06;ReadPosRankSum=-4.817;SOR=2.923	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:132,17:149:99:0|1:4511635_C_G:317,0,5434:4511635	6	0	1	0
chr19	4511762	4511763	AC	-	exonic	PLIN4	.	frameshift deletion	PLIN4:NM_001367868:exon5:c.2197_2198del:p.V733Lfs*30	.	404	1090	22	0	6	28	0.00999092	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.29e-05	2	154602	rs1471862394	0	0.0006	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	2.67e-05	0.0006	3.907e-05	1.369e-05	7.299e-05	8.24e-06	5.21e-06	1.935e-05	1.036e-05	7.299e-05	0	0	0	0	0	0	1.483e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	120.4	151	chr19	4511761	.	GAC	G	120.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.904;DP=2451;ExcessHet=0;FS=18.17;MLEAC=1;MLEAF=0.071;MQ=57.98;MQRankSum=-11.28;QD=0.8;ReadPosRankSum=-4.284;SOR=3.321	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:138,13:151:99:0|1:4511635_C_G:131,0,5611:4511635	6	0	1	0
chr19	4513512	4513512	C	G	exonic	PLIN4	.	nonsynonymous SNV	PLIN4:NM_001367868:exon5:c.G448C:p.A150P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.245	0.0616004506604	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.53900	D	0.057	0.46632	T	1.0	0.90584	D	1.0	0.97372	D	0.003052	0.35512	N	0.127275	0.500899	0.31740	D	3.005	0.85968	M	2.95	0.09635	T	-2.61	0.56144	D	0.666	0.74189	-1.0104	0.26791	T	0.068	0.27913	T	10	0.69339144	0.71994	D	0.062	0.68385	D	0.245	0.55201	0.488	0.57257	0.241664281697	0.23763	0.455906097849865	0.45508	.	.	0.420954406261	0.27967	T	0.130968	0.46018	T	-0.00818942	0.50520	T	-0.24954	0.49863	T	0.905229582430052	0.55891	D	0.928507	0.75346	D	0.66185796	0.75998	0.6384757	0.78886	0.66185796	0.75999	0.6384757	0.78887	-11.104	0.80225	D	.	.	0.842	0.79333	P	.;.	.;.	3.221691	0.43898	21.8	0.99730497696502363	0.82761	0.57547	0.30405	D	AEFBI	0.255291	0.37444	N	0.348048067949397	0.58637	4.037145	0.22703788114492	0.51353	3.318569	0.0018922917351692	0.08984	0.582742	0.33608	0	0.550933	0.16991	0	0.61531	0.40942	0	0.613276	0.41899	0	.	.	5.36	4.26	0.49832	0.618000	0.24068	1.848000	0.29236	0.545000	0.25583	0.009000	0.18154	0.945000	0.28875	0.012000	0.09680	0.0:0.7272:0.1795:0.0933	6.825	0.23060	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	867.44	61	chr19	4513512	.	C	G	867.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.191;DP=491;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.22;ReadPosRankSum=-1.053;SOR=0.716	GT:AD:DP:GQ:PL	0/1:27,34:61:99:878,0,700	6	0	1	0
chr19	5587737	5587737	C	T	exonic	SAFB2	.	nonsynonymous SNV	SAFB2:NM_014649:exon20:c.G2669A:p.G890E	.	421	1070	29	2	0	33	0.0151864	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	.	.	0.00579073	0.0123	0	0.005	0	0	0.0028	0.0156	0.0279	0.002335	361	154602	rs200613061	0.0022	0.0022	0.0014	0.0029	0.0264	0.0021	0.0021	0.0255	0.0251	0.0002	0.0014	0.0041	2.792e-05	0.0003	0.0090	0.0005	0.0027	0.0264	0.0014	0.0014	0.0011	0.0017	0.0250	0.0012	0.0012	0.0214	0.0201	0.0001	0	0.0014	0.0052	0	0.0002	0.0034	0.0005	0.0033	0.0250	0.003	0.68238	D	0.085	0.41074	T	0.965	0.56013	D	0.559	0.49531	P	0.019005	0.27353	N	0.259107	0.999976	0.18612	N	1.78	0.46185	L	3.02	0.08986	T	-3.47	0.67824	D	0.675	0.68255	-1.0867	0.06102	T	0.024	0.10194	T	10	0.007586062	0.00172	T	.	.	.	0.112	0.31546	.	.	0.187035705434	0.18338	0.15805788808572238	0.15726	0.265702687917	0.29123	0.610117137432	0.54332	T	0.134187	0.46529	T	-0.457542	0.01018	T	-0.409054	0.32335	T	0.0399240815428122	0.03676	T	0.935906	0.76011	D	0.25445426	0.48473	0.2747119	0.53402	0.25445426	0.48473	0.2747119	0.53401	-7.53	0.57822	D	.	.	0.298	0.52841	B	.	.	3.877911	0.56346	23.7	0.99100971918731073	0.52471	0.73588	0.35995	D	AEFDBHCI	0.159565	0.28538	N	0.0667775313195468	0.44917	2.757205	-0.0566194688661995	0.37205	2.175265	0.925377295047793	0.26813	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.0	4.0	0.45673	3.018000	0.49310	3.980000	0.40897	0.599000	0.40250	0.989000	0.36753	0.997000	0.33255	0.059000	0.15899	0.1948:0.8051:0.0:0.0	10.376	0.43265	861	0.33516	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011579	0.000000	0.000000	0.015060	0.000000	0.000000	0.012658	0.044000	0.1667	882.92	37	chr19	5587737	.	C	T	882.92	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.39;DP=260;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=8.03;ReadPosRankSum=0.061;SOR=0.652	GT:AD:DP:GQ:PL	0/1:19,18:37:99:472,0,465	4	0	2	1
chr19	6375494	6375494	G	A	exonic	PSPN	.	nonsynonymous SNV	PSPN:NM_004158:exon2:c.C271T:p.R91C	.	418	1084	18	2	0	22	0.0100457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.387	0.423871069852	0.0006	0.000399361	0.0024	0	0.0058	0	0	0.0047	0.0058	0.0010	0.0006856	106	154602	rs199881560	0.0010	0.0010	0.0010	0.0011	0.0141	0.0010	0.0009	0.0116	0.0107	0.0010	0.0013	0.0020	0	0.0003	0.0141	0.0009	0.0018	0.0017	0.0009	0.0009	0.0008	0.0011	0.0031	0.0008	0.0008	0.0024	0.0022	0.0005	0	0.0031	0.0026	0	9.414e-05	0.0137	0.0008	0.0024	0.0004	0.0	0.91255	D	0.001	0.83351	D	0.999	0.77913	D	0.765	0.56630	P	0.005456	0.32788	N	0.206931	0.999861	0.50061	D	2.815	0.81989	M	-1.88	0.84487	D	-6.72	0.92561	D	0.457	0.49420	0.347	0.88284	D	0.640	0.87419	D	10	0.051564932	0.05056	T	0.423871	0.93847	D	0.754	0.91583	.	.	0.869336624702	0.86806	0.6008403966575716	0.60015	1.28444644439	0.82614	0.542785406113	0.44839	T	0.931102	0.98836	D	0.161253	0.70316	D	0.445622	0.93469	D	0.0494534286816615	0.05403	T	0.968203	0.88468	D	0.5794814	0.71580	0.33474544	0.59296	0.5794814	0.71581	0.33474544	0.59295	-13.146	0.89955	D	.	.	0.306	0.53425	B	.	.	5.032840	0.83719	28.1	0.99917466821320478	0.98518	0.76001	0.37243	D	AEFDBCI	0.663711	0.63313	D	0.510018647440075	0.67679	5.114119	0.46060518330418	0.65400	4.819082	0.999590146156428	0.40745	0.679555	0.55442	0	0.550933	0.16991	0	0.645312	0.48771	0	0.602482	0.37289	1	.	.	4.21	4.21	0.48984	3.446000	0.52692	5.032000	0.46835	0.511000	0.23309	1.000000	0.71638	1.000000	0.68203	0.906000	0.44173	0.0:0.0:0.6769:0.3231	9.764	0.39713	748	0.52143	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	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010769	0.010989	0.012465	0.017647	0.000000	0.000000	0.003145	0.007576	0.07143	315.49	39	chr19	6375494	.	G	A	315.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.12;DP=213;ExcessHet=0;FS=1.374;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.09;ReadPosRankSum=-0.22;SOR=1.19	GT:AD:DP:GQ:PL	0/1:25,14:39:99:326,0,592	6	0	1	0
chr19	7644710	7644710	G	A	exonic	STXBP2	.	nonsynonymous SNV	STXBP2:NM_001127396:exon14:c.G1195A:p.D399N,STXBP2:NM_001272034:exon14:c.G1237A:p.D413N,STXBP2:NM_006949:exon14:c.G1204A:p.D402N	Hemophagocytic lymphohistiocytosis, familial, 5	0	1520	2	0	0	2	0.000657462	.	.	YES	848173	Familial_hemophagocytic_lymphohistiocytosis_5	MONDO:MONDO:0013135,MedGen:C2751293,OMIM:613101,Orphanet:540	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.624	0.0696588652553	0.0002	0.000199681	0.0002	0.0005	8.69e-05	0	0	1.528e-05	0	0.0007	0.0001294	20	154602	rs114628602	5.747e-05	5.746e-05	4.493e-05	7.014e-05	0.0005	4.744e-05	4.367e-05	0.0004	0.0004	0.0004	2.237e-05	0	0	0	0	2.069e-05	1.656e-05	0.0005	0.0001	0.0001	0.0002	0.0001	0.0004	9.744e-05	8.258e-05	0.0003	0.0002	0.0004	0	0	0	0	0	0	1.471e-05	0.0009	0.0004	0.1	0.30515	T	0.15	0.32461	T	0.997	0.70673	D	0.858	0.61127	P	0.000045	0.53742	D	0.117810	1	0.81001	D	2.16	0.60381	M	-1.39	0.80387	T	-4.55	0.78553	D	0.872	0.87373	0.076	0.83737	D	0.544	0.83232	D	10	0.7359166	0.74618	D	0.069659	0.70791	D	0.624	0.85459	.	.	0.879406727464	0.87822	0.7892199818921913	0.78873	0.840555430848	0.68044	0.691010355949	0.65852	T	0.509412	0.82625	D	-0.190609	0.22169	T	-0.14741	0.59473	T	0.579487323760986	0.35599	D	0.916508	0.70155	D	0.6934562	0.77699	0.41648096	0.65730	0.6934562	0.77701	0.41648096	0.65730	-8.158	0.64303	D	0.448449635214054	0.53269	0.244	0.50380	B	.;.;.	.;.;.	4.678230	0.74840	26.2	0.99878153765887945	0.95491	0.95955	0.66881	D	AEFDBCI	0.953370	0.96960	D	0.469814280668582	0.65335	4.809634	0.404448292061754	0.61841	4.390067	0.999999999980542	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.570548	0.19454	0	0.562822	0.20929	0	.	.	4.02	4.02	0.45968	8.025000	0.89148	6.362000	0.55510	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.642000	0.32476	0.0:0.0:1.0:0.0	13.699	0.62075	906	0.23090	.;.;.	.	.	.	.	.	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	1024.44	88	chr19	7644710	.	G	A	1024.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.58;DP=274;ExcessHet=0;FS=0.811;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.64;ReadPosRankSum=-0.703;SOR=0.565	GT:AD:DP:GQ:PL	0/1:47,41:88:99:1035,0,1024	6	0	1	0
chr19	8324457	8324457	C	T	exonic	KANK3	.	nonsynonymous SNV	KANK3:NM_198471:exon10:c.G2374A:p.D792N	.	426	1093	3	0	0	3	0.00137049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.00764050621881	.	0.00139776	0.0016	0.0002	0	0	0.0006	0.0006	0.0027	0.0056	0.0006145	95	154602	rs74322373	0.0003	0.0003	0.0002	0.0004	0.0037	0.0003	0.0003	0.0034	0.0032	0.0001	2.35e-05	0	0	0.0001	0.0009	7.504e-05	0.0003	0.0037	0.0001	0.0001	0.0001	0.0002	0.0031	9.141e-05	7.697e-05	0.0019	0.0015	7.215e-05	0	0	0	0	9.413e-05	0.0034	0	0.0005	0.0031	0.535	0.06913	T	0.523	0.10967	T	0.052	0.22494	B	0.014	0.16862	B	.	.	.	.	1	0.08975	N	0.55	0.14455	N	1.69	0.27032	T	0.21	0.04776	N	0.162	0.17691	-1.0128	0.26038	T	0.033	0.14160	T	9	0.00474447	0.00100	T	0.007641	0.20272	T	0.031	0.07369	0.172	0.07774	0.223146558224	0.21909	0.11353299386998926	0.11281	.	.	0.303341627121	0.10901	T	0.003642	0.03050	T	-0.696001	0.00039	T	-0.774007	0.02639	T	0.0192864773054423	0.00634	T	0.375462	0.08961	T	0.069757245	0.15311	0.07369581	0.16044	0.069757245	0.15310	0.07369581	0.16044	-4.769	0.34228	T	.	.	0.076	0.09868	B	.;.	.;.	0.644247	0.10126	6.872	0.74874219935048658	0.10860	0.14610	0.18494	N	AEFDBHCI	0.095398	0.19274	N	-0.900765921511601	0.10824	0.5191996	-0.87980800796481	0.12573	0.6475249	0.999999824720997	0.74766	0.67177	0.52595	0	0.289287	0.05216	2	0.779548	0.98927	0	0.711	0.71501	0	.	.	4.64	3.57	0.40014	-0.195000	0.09546	.	.	0.596000	0.33519	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.8693:0.0:0.1307	7.286	0.25514	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	0.002018	0.005102	0.001359	0.002924	0.000000	0.000000	0.000000	0.003788	0.07143	650.83	41	chr19	8324457	.	C	T	650.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.409;DP=209;ExcessHet=0;FS=2.865;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.87;ReadPosRankSum=0.623;SOR=1.27	GT:AD:DP:GQ:PL	0/1:15,26:41:99:661,0,314	6	0	1	0
chr19	8888745	8888745	G	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon56:c.C40754T:p.T13585I	.	393	977	1	2	149	154	0.00255232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00806063036646	.	.	.	.	.	.	.	.	.	.	.	.	.	rs75266616	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	8.066e-05	0.0052	9.833e-05	6.207e-05	0.0003	3.961e-05	2.899e-05	3.435e-05	1.476e-05	0.0001	0	0.0002	0	0.0003	0.0001	0	2.348e-05	0	0	0.007	0.59928	D	0.117	0.36365	T	.	.	.	.	.	.	.	.	.	.	0.999919	0.19599	N	.	.	.	2.21	0.18414	T	-1.31	0.32791	N	0.284	0.32148	-1.0288	0.20843	T	0.047	0.19958	T	8	0.19550985	0.35406	T	0.008061	0.21368	T	0.147	0.38986	.	.	0.15556083564	0.15200	0.2225390080387863	0.22168	.	.	0.375644803047	0.21638	T	.	.	.	-0.16957	0.25299	T	-0.481352	0.24304	T	0.344821783264657	0.26815	T	0.0674933	0.00492	T	.	.	.	.	.	.	.	.	-7.428	0.57102	T	.	.	0.116	0.23360	B	.	.	1.705751	0.21725	15.32	0.9981530341282232	0.89885	0.47447	0.27985	N	AEFBI	0.095609	0.19314	N	-0.156012332511241	0.34978	2.00343	-0.1738091635021	0.32503	1.849856	1.14764749978257E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.48	1.25	0.20475	-0.043000	0.11996	.	.	-0.132000	0.13132	0.926000	0.32145	0.000000	0.08366	0.009000	0.08673	0.1321:0.2319:0.6359:0.0	4.503	0.11285	952	0.10565	SEA domain|SEA domain|SEA domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	264.82	335	chr19	8888745	.	G	A	264.82	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.92;DP=2619;ExcessHet=0.3476;FS=4.512;MLEAC=1;MLEAF=0.083;MQ=56.9;MQRankSum=-6.721;QD=0.45;ReadPosRankSum=-2;SOR=1.242	GT:AD:DP:GQ:PL	0/1:294,24:335:42:42,0,13028	5	0	1	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|1:159,12:171:25:0|1:8900009_C_T:25,0,6640:8900009	2	0	4	1
chr19	8906310	8906310	C	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon27:c.G38009C:p.S12670T	.	426	1063	32	1	0	34	0.0157407	.	.	YES	2752290	Ovarian_cancer	MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500	no_assertion_criteria_provided	Likely_pathogenic	.	.	.	.	.	.	.	.	0.053	0.00246779091888	.	0.000199681	1.681e-05	0.0001	8.66e-05	0	0	0	0	0	3.84e-05	1	26028	rs565425582	1.644e-05	2.941e-05	1.772e-05	1.514e-05	2.52e-05	1.112e-05	9.34e-06	1.296e-05	1.107e-05	0	2.242e-05	0	2.52e-05	0	0	1.98e-05	0	0	4.176e-05	0.0026	5.432e-05	2.855e-05	0.0001	1.799e-05	1.184e-05	3.51e-05	2.123e-05	0.0001	0	0	0	0	0	0	3.066e-05	0	0	1.0	0.00964	T	0.139	0.33666	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.57	0.01917	T	1.25	0.01011	N	0.113	0.10056	-0.9100	0.46854	T	0.002	0.00676	T	8	0.033523023	0.01532	T	0.002468	0.04896	T	0.053	0.14996	0.176	0.08257	0.0297737177859	0.01360	0.07544984530033015	0.07480	.	.	0.284053891897	0.08063	T	.	.	.	-0.547718	0.00301	T	-0.842388	0.01063	T	0.0276999553474265	0.01645	T	0.143886	0.01170	T	.	.	.	.	.	.	.	.	-0.597	0.00646	T	.	.	0.062	0.01215	B	.	.	0.261277	0.06395	2.864	0.32924370785203677	0.01934	0.00006	0.00120	N	AEFBI	0.008428	0.00039	N	-1.59481043750724	0.01290	0.05618882	-1.61343246278626	0.01576	0.07143936	1.53118084225164E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	1.48	-1.23	0.08977	-0.346000	0.07809	.	.	-1.191000	0.01374	0.001000	0.13787	0.000000	0.08366	0.091000	0.17840	0.1779:0.2378:0.3437:0.2407	0.617	0.00722	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	79.26	75	chr19	8906310	.	C	G	79.26	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.39;DP=531;ExcessHet=0;FS=9.685;MLEAC=1;MLEAF=0.083;MQ=58.6;MQRankSum=-8.573;QD=1.06;ReadPosRankSum=-0.581;SOR=2.568	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:68,7:75:89:0|1:8906306_G_A:89,0,2833:8906306	5	0	1	1
chr19	8906323	8906323	G	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon27:c.C37996T:p.P12666S	.	428	1055	38	1	0	40	0.0186047	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00247585488613	.	.	1.687e-05	0.0001	8.658e-05	0	0	0	0	0	1.29e-05	2	154602	rs762490369	1.713e-05	5.336e-05	1.772e-05	1.653e-05	2.52e-05	1.176e-05	9.94e-06	1.379e-05	1.152e-05	0	2.245e-05	0	2.52e-05	0	0	2.071e-05	0	0	4.24e-05	0.0059	4.138e-05	4.346e-05	0.0001	1.822e-05	1.199e-05	3.556e-05	2.154e-05	0.0001	0	0	0	0	0	0	3.104e-05	0	0	0.261	0.16520	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.52	0.01997	T	0.2	0.04861	N	0.092	0.07125	-0.9233	0.45098	T	0.002	0.00676	T	8	0.057982862	0.06746	T	0.002476	0.04896	T	0.027	0.05988	0.184	0.09259	0.0297737177859	0.01360	0.08237352206848209	0.08172	.	.	0.263990014791	0.05375	T	.	.	.	-0.536376	0.00352	T	-0.839115	0.01112	T	0.0242580187876096	0.01178	T	0.180682	0.01803	T	.	.	.	.	.	.	.	.	0.883	0.00148	T	.	.	0.076	0.06069	B	.	.	0.362648	0.07355	3.971	0.31856550423288121	0.01817	0.00006	0.00120	N	AEFBI	0.009687	0.00059	N	-1.5920726816332	0.01304	0.05680634	-1.57521878403105	0.01808	0.08232029	9.67824463248396E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	1.48	0.419	0.15657	-0.191000	0.09598	.	.	-0.953000	0.02023	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.562:0.0:0.438:0.0	4.268	0.10218	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	100.28	83	chr19	8906323	.	G	A	100.28	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.066;DP=644;ExcessHet=0;FS=2.18;MLEAC=1;MLEAF=0.083;MQ=58.94;MQRankSum=-9.027;QD=1.21;ReadPosRankSum=0.539;SOR=0.865	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,8:83:99:0|1:8906306_G_A:110,0,3125:8906306	5	0	1	1
chr19	8906325	8906325	A	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon27:c.T37994G:p.I12665S	.	429	1045	47	1	0	49	0.0229079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.0038760848155	.	.	.	.	.	.	.	.	.	.	.	.	.	rs759086518	0	3.625e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	4.251e-05	0.0063	4.15e-05	4.357e-05	0.0002	1.826e-05	1.202e-05	3.56e-05	2.156e-05	0.0001	0	0	0	0.0002	0	0	1.556e-05	0	0	0.826	0.02913	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.5	0.02032	T	0.44	0.03243	N	0.074	0.04790	-0.8304	0.53276	T	0.002	0.00738	T	8	0.04098645	0.02714	T	0.003876	0.09086	T	0.018	0.03083	0.31	0.28289	0.170165803431	0.16609	0.11517879774076815	0.11445	.	.	0.232001110911	0.02120	T	.	.	.	-0.408333	0.02040	T	-0.824318	0.01367	T	0.0416706942861189	0.03995	T	0.152385	0.01298	T	.	.	.	.	.	.	.	.	0.068	0.00326	T	.	.	0.085	0.10400	B	.	.	-0.401111	0.02208	0.221	0.45356006519564063	0.03554	0.00037	0.00318	N	AEFBI	0.009398	0.00054	N	-2.70207499388071	0.00005	0.0002332206	-2.71802947991178	0.00007	0.000320448	0.0912899574800445	0.16130	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	1.48	-2.96	0.05212	-5.644000	0.00129	.	.	-4.429000	0.00030	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1528:0.3792:0.4679:0.0	7.234	0.25234	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	100.28	83	chr19	8906325	.	A	C	100.28	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.279;DP=644;ExcessHet=0;FS=2.18;MLEAC=1;MLEAF=0.083;MQ=58.94;MQRankSum=-9.027;QD=1.21;ReadPosRankSum=0.718;SOR=0.865	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,8:83:99:0|1:8906306_G_A:110,0,3125:8906306	5	0	1	1
chr19	8906329	8906329	A	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon27:c.T37990C:p.W12664R	.	426	1037	58	1	0	60	0.0281162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00123485330843	.	.	1.69e-05	0.0001	8.66e-05	0	0	0	0	0	3.84e-05	1	26028	rs752664873	1.713e-05	7.251e-05	1.909e-05	1.516e-05	2.52e-05	1.176e-05	9.94e-06	1.379e-05	1.152e-05	0	2.246e-05	0	2.52e-05	0	0	2.071e-05	0	0	9.122e-05	0.0074	9.589e-05	8.632e-05	0.0002	5.38e-05	4.211e-05	6.784e-05	4.563e-05	0.0002	0	0	0	0.0002	0.0001	0	7.725e-05	0	0	1.0	0.00964	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.56	0.29602	T	1.73	0.00557	N	0.164	0.17278	-1.0123	0.26196	T	0.021	0.08917	T	8	0.05845517	0.06874	T	0.001235	0.01633	T	0.022	0.04323	0.511	0.60846	0.0666544352282	0.05500	0.12290162140986033	0.12216	.	.	0.17153711617	0.00038	T	.	.	.	-0.364945	0.03858	T	-0.761995	0.03041	T	0.0350373052446737	0.02814	T	0.0657934	0.00479	T	.	.	.	.	.	.	.	.	0.629	0.00188	T	.	.	0.081	0.08417	B	.	.	0.120328	0.05179	1.696	0.50828146212189185	0.04453	0.00012	0.00170	N	AEFBI	0.011720	0.00110	N	-2.20480432650005	0.00075	0.003199722	-2.24327977203405	0.00089	0.003930338	8.9415780060643E-4	0.07974	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	1.48	-2.96	0.05212	-1.082000	0.03510	.	.	-6.395000	0.00004	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5741:0.0:0.2467:0.1792	4.013	0.09120	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	158.85	86	chr19	8906329	.	A	G	158.85	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.596;DP=686;ExcessHet=0.3476;FS=15.295;MLEAC=2;MLEAF=0.167;MQ=59.01;MQRankSum=-11.16;QD=0.75;ReadPosRankSum=-0.005;SOR=1.851	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,9:86:99:0|1:8906306_G_A:146,0,3206:8906306	4	0	2	1
chr19	10777171	10777171	G	A	exonic	DNM2	.	nonsynonymous SNV	DNM2:NM_001005360:exon5:c.G643A:p.D215N,DNM2:NM_001005361:exon5:c.G643A:p.D215N,DNM2:NM_001005362:exon5:c.G643A:p.D215N,DNM2:NM_001190716:exon5:c.G643A:p.D215N,DNM2:NM_004945:exon5:c.G643A:p.D215N	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	.	.	.	.	.	.	.	.	.	.	403369	not_specified|not_provided|Charcot-Marie-Tooth_disease_dominant_intermediate_B|Centronuclear_myopathy|DNM2-related_disorder	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011674,MedGen:C1847902,OMIM:606482,Orphanet:100044,Orphanet:228179|MONDO:MONDO:0018947,MedGen:C0175709,OMIM:PS160150,Orphanet:595|.	reviewed_by_expert_panel	Benign	.	.	.	.	.	.	.	.	0.479	.	0.0005	0.000399361	0.0015	0.0002	0	0	0.0124	0.0014	0.0044	0.0003	0.0011902	184	154602	rs145478270	0.0008	0.0008	0.0008	0.0008	0.0017	0.0007	0.0007	0.0009	0.0007	0	4.472e-05	3.826e-05	2.519e-05	0.0111	0.0017	0.0004	0.0008	0.0003	0.0016	0.0016	0.0009	0.0023	0.0012	0.0014	0.0014	0.0010	0.0009	2.405e-05	0	0.0001	0.0003	0	0.0145	0	0.0012	0.0009	0.0004	0.266	0.17468	T	0.275	0.23298	T	0.512	0.52277	P	0.202	0.37792	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.775	0.45938	L	-3.77	0.95595	D	-4.06	0.75615	D	0.635	0.75009	0.740	0.93668	D	0.871	0.95708	D	10	0.015476167	0.00325	T	.	.	.	0.479	0.77012	.	.	0.958122475646	0.95767	0.8463143602722402	0.84592	1.83200647507	0.92061	0.790451407433	0.80511	T	0.887329	0.97683	D	-0.279761	0.10692	T	-0.178312	0.56679	T	0.0527902569308916	0.05984	T	0.970703	0.89491	D	0.3195596	0.54603	0.39887252	0.64465	0.32804826	0.55311	0.31113848	0.57121	-10.374	0.76276	D	0.6136251852475612	0.68142	0.257	0.54027	B	.;.;.;.;.	.;.;.;.;.	5.832741	0.93745	33	0.9963720733925111	0.76449	0.99177	0.92364	D	AEFDBIJ	0.918516	0.88768	D	0.224945867780208	0.52410	3.415373	0.211529410609703	0.50486	3.240157	0.999999991716198	0.74766	0.706548	0.73137	0	0.696144	0.67643	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.94	3.9	0.44240	9.889000	0.98569	11.615000	0.93574	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0853:0.0:0.9147:0.0	12.044	0.52763	428	0.80967	.;.;.;Dynamin-type guanine nucleotide-binding (G) domain|Dynamin, GTPase domain|Dynamin, GTPase domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001512	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.003788	0.07143	1201.53	93	chr19	10777171	.	G	A	1201.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.84;DP=272;ExcessHet=0;FS=0.774;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.92;ReadPosRankSum=-0.462;SOR=0.809	GT:AD:DP:GQ:PL	0/1:44,49:93:99:1212,0,941	6	0	1	0
chr19	11253671	11253671	G	C	exonic	DOCK6	.	nonsynonymous SNV	DOCK6:NM_001367830:exon2:c.C100G:p.H34D,DOCK6:NM_020812:exon2:c.C100G:p.H34D	Adams-Oliver syndrome 2, Autosomal recessive	1	1515	4	2	0	8	0.00263331	.	.	.	1018492	Adams-Oliver_syndrome_2|DOCK6-related_disorder|Inborn_genetic_diseases|not_provided	MONDO:MONDO:0013635,MedGen:C3280182,OMIM:614219,Orphanet:974|.|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.158	0.0112285885313	.	0.000399361	0.0012	0	0.0020	0	0.0085	0.0019	0	0.0007	0.000304	47	154602	rs201065561	0.0006	0.0006	0.0006	0.0006	0.0041	0.0006	0.0005	0.0028	0.0024	3.921e-05	0.0004	0	0.0001	4.127e-05	0.0041	0.0006	0.0006	0.0006	0.0005	0.0005	0.0004	0.0005	0.0008	0.0004	0.0003	0.0005	0.0004	0.0002	0	0.0007	0	0	9.413e-05	0.0034	0.0006	0.0019	0.0008	0.532	0.06980	T	0.852	0.03487	T	0.005	0.12996	B	0.017	0.18140	B	0.509811	0.05140	N	1.265160	0.998934	0.21783	N	0.345	0.11182	N	2.8	0.11082	T	-2.48	0.54059	N	0.399	0.43995	-0.9853	0.33760	T	0.019	0.07939	T	10	0.0073676705	0.00167	T	0.011229	0.28641	T	0.158	0.41098	.	.	0.117506650769	0.11410	0.2994114149702106	0.29854	0.258910486306	0.28441	0.449441879988	0.31868	T	0.010838	0.09742	T	-0.517095	0.00457	T	-0.580302	0.14518	T	0.0207867502896141	0.00778	T	0.686731	0.29555	T	0.09561676	0.22507	0.12545796	0.30228	0.09561676	0.22507	0.12545796	0.30227	-1.926	0.02914	T	.	.	0.143	0.31406	B	.	.	1.999469	0.25404	16.75	0.67361397882174723	0.08332	0.93128	0.57400	D	AEFDBI	0.464187	0.51279	N	-1.03093054681705	0.07966	0.371931	-0.927020957407919	0.11457	0.5838098	0.999753778619024	0.42595	0.706298	0.61202	0	0.709663	0.81188	0	0.723109	0.80598	0	0.591603	0.36755	0	.	.	5.32	1.86	0.24489	4.752000	0.61873	.	.	-0.114000	0.14653	1.000000	0.71638	1.000000	0.68203	0.097000	0.18139	0.0:0.0:0.6452:0.3548	15.478	0.75232	830	0.39242	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001540	0.000000	0.000000	0.002959	0.000000	0.008772	0.003185	0.000000	0.07143	443.44	39	chr19	11253671	.	G	C	443.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.952;DP=230;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.37;ReadPosRankSum=0.45;SOR=0.602	GT:AD:DP:GQ:PL	0/1:19,20:39:99:454,0,401	6	0	1	0
chr19	12319717	12319717	C	T	exonic	ZNF563	.	nonsynonymous SNV	ZNF563:NM_001363608:exon4:c.G308A:p.C103Y,ZNF563:NM_145276:exon4:c.G308A:p.C103Y	.	432	1070	20	0	0	20	0.00925926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	.	.	0.00259585	0.0010	0	8.637e-05	0	0	0.0003	0.0011	0.0065	0.000912	141	154602	rs200876279	0.0004	0.0004	0.0003	0.0006	0.0055	0.0004	0.0004	0.0051	0.0049	0	2.236e-05	0	0	3.744e-05	0.0033	9.802e-05	0.0006	0.0055	0.0004	0.0004	0.0003	0.0005	0.0068	0.0003	0.0003	0.0050	0.0044	2.407e-05	0	0	0	0.0002	0	0	0.0003	0	0.0068	1.0	0.00964	T	1.0	0.15506	T	0.009	0.15093	B	0.015	0.17295	B	.	.	.	.	0.999924	0.19486	N	-0.435	0.02851	N	2.87	0.10386	T	-5.48	0.85692	D	0.097	0.07811	-0.9364	0.43180	T	0.010	0.03537	T	9	0.006224215	0.00140	T	.	.	.	0.069	0.20116	.	.	0.0297737177859	0.01360	0.20285487040038153	0.20202	0.160696384442	0.18139	0.237996399403	0.02612	T	0.221563	0.58517	T	-0.639767	0.00084	T	-0.689976	0.06390	T	0.0152120328931474	0.00334	T	0.119588	0.08641	T	0.10350633	0.24465	0.27528387	0.53463	0.10350633	0.24465	0.27528387	0.53462	-4.444	0.30149	T	.	.	0.084	0.25850	B	.;.;.	.;.;.	0.277470	0.06548	3.031	0.25871228792176176	0.01213	0.00369	0.01880	N	AEFBCI	0.032383	0.03648	N	-1.39088578848653	0.02723	0.1206324	-1.42107454912294	0.03042	0.1411457	1.03060331616272E-5	0.01202	0.562547	0.31514	0	0.653731	0.59785	0	0.463624	0.06942	0	0.564101	0.26826	0	.	.	0.724	0.724	0.17389	-0.075000	0.11392	.	.	0.306000	0.19039	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.0:0.9999:0.0:1.0E-4	7.254	0.25339	923	0.18507	Zinc finger C2H2-type;Zinc finger C2H2-type;Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.1429	4312.24	137	chr19	12319717	.	C	T	4312.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.551;DP=513;ExcessHet=0.3476;FS=2.3;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=12.05;ReadPosRankSum=1.16;SOR=0.836	GT:AD:DP:GQ:PL	0/1:63,74:137:99:1861,0,1535	5	0	2	0
chr19	12464013	12464013	C	T	exonic	ZNF709	.	nonsynonymous SNV	ZNF709:NM_152601:exon4:c.G1909A:p.V637I	.	428	1082	12	0	0	12	0.00551471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.000967509020786	0.0009	0.00159744	0.0022	0.0003	0.0002	0	0.0005	0.0025	0.0025	0.0079	0.0019081	295	154602	rs148951852	0.0015	0.0016	0.0013	0.0018	0.0089	0.0015	0.0015	0.0083	0.0080	3.385e-05	0.0001	0.0002	0	0.0013	0.0048	0.0013	0.0015	0.0089	0.0013	0.0013	0.0011	0.0014	0.0078	0.0011	0.0011	0.0058	0.0051	9.723e-05	0	0.0001	0	0	0.0014	0	0.0019	0.0005	0.0078	0.493	0.07920	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	-0.445	0.02820	N	3.07	0.08547	T	-0.27	0.11366	N	0.018	0.00252	-0.9765	0.35794	T	0.006	0.02206	T	9	0.0040544868	0.00079	T	9.68E-4	0.01003	T	0.013	0.01715	.	.	0.0846915920261	0.08053	0.0056723854926779	0.00537	0.273427622127	0.29844	0.326258182526	0.14368	T	0.023265	0.17791	T	-0.760131	0.00015	T	-0.858537	0.00859	T	0.000625639478516926	0.00006	T	0.0748925	0.00548	T	0.019713074	0.00507	0.067255996	0.13890	0.019713074	0.00507	0.067255996	0.13889	-0.116	0.00392	T	.	.	0.070	0.03407	B	.;.	.;.	-0.646390	0.01450	0.088	0.72995583462683189	0.10170	0.01503	0.04977	N	AEFDBCI	0.019548	0.00689	N	-2.09860675845974	0.00129	0.005526622	-2.13964118378213	0.00153	0.006710481	0.0055880345274098	0.10984	0.554377	0.28877	0	0.546412	0.12157	0	0.602189	0.34648	0	0.491896	0.07777	0	.	.	2.57	-5.15	0.02648	-0.764000	0.04841	.	.	-0.870000	0.02561	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.1176:0.4568:0.0:0.4256	7.232	0.25224	923	0.18507	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005035	0.000000	0.001359	0.002924	0.000000	0.000000	0.009146	0.015152	0.07143	684.44	68	chr19	12464013	.	C	T	684.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.68;DP=275;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.07;ReadPosRankSum=-0.414;SOR=0.766	GT:AD:DP:GQ:PL	0/1:41,27:68:99:695,0,1023	6	0	1	0
chr19	13814818	13814818	G	A	exonic	ZSWIM4	.	nonsynonymous SNV	ZSWIM4:NM_001367834:exon7:c.G1484A:p.R495Q	.	435	1083	4	0	0	4	0.00184332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.232	0.0182393142756	.	.	0.0002	0	0	0	0	0	0	0.0003	1.29e-05	2	154602	rs762405517	2.493e-05	1.984e-05	1.913e-05	3.102e-05	0.0005	1.729e-05	1.488e-05	0.0001	8.426e-05	0	0.0003	0	0	0	0.0005	5.496e-06	7.351e-05	0.0001	1.971e-05	1.969e-05	0	4.033e-05	0.0002	5.24e-06	2.45e-06	.	.	0	0	0	0	0.0002	0	0	1.47e-05	0.0005	0	.	.	.	0.011	0.64786	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	0.43	0.56772	T	.	.	.	.	.	-0.4942	0.68857	T	0.309	0.67931	T	8	0.42093706	0.56858	T	0.018239	0.40237	T	.	.	.	.	0.614442799871	0.61133	.	.	.	.	.	.	.	.	.	.	-0.24732	0.14429	T	-0.289906	0.45783	T	0.230555728077888	0.21977	T	0.976302	0.91743	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.170	0.37407	B	.	.	4.405379	0.68111	25.2	0.99799694190902788	0.88461	0.95296	0.64171	D	AEFBI	0.645929	0.62164	D	0.413587648612046	0.62170	4.428467	0.323530069127235	0.56927	3.856782	0.490036189321926	0.20855	0.634777	0.41761	0	0.694456	0.67091	0	0.643519	0.47002	0	0.635551	0.53088	0	.	.	4.39	4.39	0.52211	6.317000	0.72825	11.464000	0.92836	0.658000	0.54486	1.000000	0.71638	1.000000	0.68203	0.021000	0.11733	0.0:0.0:1.0:0.0	14.807	0.69589	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	.	.	.	.	.	.	.	.	0.07143	547.49	46	chr19	13814818	.	G	A	547.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.678;DP=223;ExcessHet=0;FS=1.178;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.9;ReadPosRankSum=0.055;SOR=0.471	GT:AD:DP:GQ:PL	0/1:21,25:46:99:558,0,453	6	0	1	0
chr19	14638243	14638243	C	T	exonic	ADGRE3	.	nonsynonymous SNV	ADGRE3:NM_001289159:exon8:c.G968A:p.R323Q,ADGRE3:NM_001289158:exon10:c.G1190A:p.R397Q,ADGRE3:NM_032571:exon11:c.G1346A:p.R449Q	.	432	1086	4	0	0	4	0.00183824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.232	0.011798563245	.	.	1.648e-05	0	0	0	0	2.997e-05	0	0	1.29e-05	2	154602	rs759479912	1.915e-05	1.915e-05	1.906e-05	1.925e-05	0.0002	1.328e-05	1.144e-05	1.377e-05	1.15e-05	5.974e-05	0	0	0	0	0.0002	2.068e-05	0	2.319e-05	2.63e-05	2.627e-05	5.142e-05	0	5.881e-05	8.15e-06	5.14e-06	1.972e-05	1.125e-05	0	0	0	0	0	0	0	5.881e-05	0	0	0.002	0.72154	D	0.028	0.72224	D	1.0	0.90584	D	0.994	0.82059	D	.	.	.	.	0.99895	0.21827	N	.	.	.	1.18	0.37746	T	-3.66	0.70067	D	0.597	0.64563	-0.8275	0.53461	T	0.255	0.62485	T	9	0.76492727	0.76629	D	0.011799	0.29782	T	0.232	0.53354	0.711	0.84691	0.281381271821	0.27740	0.2917309096900242	0.29086	0.63183921919	0.57127	0.40144726634	0.25271	T	0.041559	0.25896	T	-0.0368981	0.46410	T	-0.193924	0.55220	T	0.919771313667297	0.57864	D	0.808619	0.48860	T	0.57365614	0.71260	0.514753	0.71962	0.57365614	0.71261	0.514753	0.71963	-8.977	0.67549	D	.	.	0.097	0.23605	B	.;.;.;.	.;.;.;.	4.196397	0.63292	24.6	0.99862119585977804	0.94093	0.37581	0.25794	N	AEFDBI	0.130496	0.24908	N	0.0625677473635354	0.44722	2.741147	-0.150812376352217	0.33378	1.908625	0.00240990634154497	0.09398	0.500041	0.20204	0	0.573888	0.26702	0	0.624306	0.44879	0	0.613276	0.41899	0	.	.	4.34	3.31	0.37025	0.527000	0.22695	.	.	-0.202000	0.08738	0.004000	0.16614	0.002000	0.18203	0.239000	0.22975	0.0:0.9:0.0:0.1	9.951	0.40808	952	0.10565	GPCR, family 2-like;.;GPCR, family 2-like;GPCR, family 2-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1023.44	113	chr19	14638243	.	C	T	1023.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.95;DP=289;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.06;ReadPosRankSum=-1.066;SOR=0.675	GT:AD:DP:GQ:PL	0/1:66,47:113:99:1034,0,1407	6	0	1	0
chr19	14828048	14828048	T	C	exonic	OR7A5	.	nonsynonymous SNV	OR7A5:NM_017506:exon2:c.A194G:p.N65S,OR7A5:NM_001370480:exon3:c.A194G:p.N65S,OR7A5:NM_001370482:exon3:c.A194G:p.N65S,OR7A5:NM_001370483:exon3:c.A194G:p.N65S,OR7A5:NM_001370481:exon4:c.A194G:p.N65S	.	431	1077	14	0	0	14	0.00645756	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.000733141331449	0.0015	0.000998403	0.0017	0.0005	0.0021	0	0	0.0022	0.0022	0.0017	0.0016041	248	154602	rs61731995	0.0015	0.0015	0.0014	0.0016	0.0075	0.0014	0.0014	0.0057	0.0051	0.0006	0.0021	0.0037	0	1.872e-05	0.0075	0.0015	0.0017	0.0017	0.0014	0.0014	0.0015	0.0012	0.0026	0.0012	0.0012	0.0019	0.0017	0.0004	0.0022	0.0026	0.0049	0	9.441e-05	0.0068	0.0018	0.0019	0.0012	0.007	0.59928	D	0.034	0.52727	D	0.916	0.50672	P	0.45	0.46092	P	0.004894	0.33292	U	0.000000	0.992036	0.23945	N	2.02	0.55341	M	2.65	0.12676	T	-4.45	0.77717	D	0.15	0.15328	-1.0534	0.13466	T	0.037	0.16160	T	10	0.0144023895	0.00303	T	7.33E-4	0.00491	T	0.046	0.12618	.	.	0.444305618086	0.44052	0.35010095407654707	0.34924	0.281692965744	0.30640	0.247111290693	0.03470	T	0.011591	0.10317	T	-0.586459	0.00176	T	-0.621351	0.11079	T	0.0597572850695916	0.07129	T	0.228877	0.03057	T	0.19568326	0.41367	0.17154738	0.39344	0.19568326	0.41366	0.17154738	0.39344	-7.992	0.61016	D	.	.	0.083	0.09143	B	.;.	.;.	2.252697	0.28777	17.91	0.99342962761448417	0.60251	0.18759	0.20391	N	AEFGBI	0.124316	0.24032	N	-0.148321768023192	0.35306	2.026265	-0.315740852893485	0.27590	1.532025	3.76610976278781E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.13	2.07	0.26004	-0.128000	0.10508	.	.	0.319000	0.19345	0.000000	0.06391	0.000000	0.08366	0.443000	0.27738	0.2045:0.0:0.0:0.7955	6.973	0.23838	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	0.002014	0.000000	0.005435	0.002924	0.000000	0.000000	0.000000	0.000000	0.1429	1764.24	112	chr19	14828048	.	T	C	1764.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.11;DP=330;ExcessHet=0.3476;FS=6.711;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=14.11;ReadPosRankSum=0.642;SOR=1.035	GT:AD:DP:GQ:PL	0/1:52,60:112:99:1548,0,1236	5	0	2	0
chr19	16509647	16509647	C	T	exonic	C19orf44	.	nonsynonymous SNV	C19orf44:NM_001288834:exon5:c.C1298T:p.S433L,C19orf44:NM_032207:exon5:c.C1298T:p.S433L	.	419	1098	5	0	0	5	0.00227169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.0184894771031	.	.	8.249e-06	9.636e-05	0	0	0	0	0	0	6.5e-06	1	154602	rs768812832	1.437e-05	1.436e-05	1.089e-05	1.788e-05	0.0005	9.23e-06	7.84e-06	0.0001	7.541e-05	5.974e-05	2.236e-05	0	0	0	0.0005	1.169e-05	1.656e-05	1.159e-05	1.971e-05	1.97e-05	1.285e-05	2.689e-05	4.825e-05	5.24e-06	2.45e-06	8e-06	2.99e-06	4.825e-05	0	0	0	0	0	0	1.47e-05	0	0	0.005	0.63226	D	0.023	0.57104	D	0.998	0.73220	D	0.924	0.65913	D	0.422712	0.12849	N	0.670856	1	0.08975	N	0.975	0.24501	L	.	.	.	-3.84	0.72240	D	0.309	0.46835	-0.9690	0.37407	T	0.196	0.55085	T	9	0.22345921	0.39125	T	0.018489	0.40571	T	0.080	0.23350	0.351	0.34922	0.276065633971	0.27208	0.3403950325895662	0.33952	0.545111410704	0.51550	.	.	.	0.334785	0.70448	T	-0.220934	0.17867	T	-0.373605	0.36468	T	0.576971431619393	0.35502	D	0.811819	0.46320	T	0.15982991	0.35883	0.19315448	0.42868	0.15982991	0.35882	0.19315448	0.42867	-4.957	0.36370	T	.	.	0.168	0.41341	B	.;.	.;.	2.757374	0.36155	20.2	0.99788612640015772	0.87484	0.66159	0.32982	D	AEFDGBIJ	0.059431	0.11225	N	-0.000375428586881471	0.41838	2.509764	-0.204150536746213	0.31386	1.775806	0.958275871503958	0.28353	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	4.14	1.79	0.23992	1.527000	0.35581	0.308000	0.17052	0.596000	0.33519	0.876000	0.30908	0.018000	0.20648	0.025000	0.12405	0.0:0.7336:0.1686:0.0978	7.350	0.25857	799	0.44747	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	938.44	86	chr19	16509647	.	C	T	938.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.74;DP=280;ExcessHet=0;FS=2.887;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.91;ReadPosRankSum=0.711;SOR=0.521	GT:AD:DP:GQ:PL	0/1:49,37:86:99:949,0,1196	6	0	1	0
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	1/0:2,7:21:99:.:.:942,306,370:.	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	1/1:2,28:30:23:1074,23,0	0	4	2	1
chr19	21293681	21293681	A	T	exonic	ZNF708	.	nonsynonymous SNV	ZNF708:NM_001297561:exon3:c.T1093A:p.F365I,ZNF708:NM_001297560:exon4:c.T1093A:p.F365I,ZNF708:NM_021269:exon4:c.T1285A:p.F429I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.00340595577744	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.87	0.46412	T	-5.35	0.84742	D	0.414	0.45426	-0.8791	0.49833	T	0.256	0.62688	T	9	0.3584057	0.52534	T	0.003406	0.07633	T	0.160	0.41473	.	.	0.544432747571	0.54097	0.049403792702635195	0.04883	0.394183223072	0.40577	0.457398414612	0.32954	T	.	.	.	-0.0507867	0.44327	T	-0.310728	0.43580	T	0.930095396345344	0.59458	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.643	0.70645	P	.	.	2.592231	0.33630	19.40	0.97889070327910654	0.36655	0.76106	0.37302	D	AEFBI	0.087131	0.17666	N	0.122708070554099	0.47523	2.976889	-0.191005068984238	0.31866	1.80744	1.79035990645971E-5	0.02871	0.651	0.46895	0	0.708844	0.79440	0	0.463624	0.06942	0	0.683762	0.67416	0	.	.	1.05	1.05	0.19280	6.573000	0.73899	.	.	0.648000	0.52827	0.999000	0.42656	0.972000	0.29809	0.001000	0.02609	0.7667:0.0:0.2333:0.0	3.807	0.08298	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	.	.	.	.	.	.	.	.	0.07143	904.46	59	chr19	21293681	.	A	T	904.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.802;DP=239;ExcessHet=0;FS=7.415;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.33;ReadPosRankSum=-0.039;SOR=1.675	GT:AD:DP:GQ:PL	0/1:24,35:59:99:915,0,627	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	0|1:35,20:55:99:0|1:21383385_TAATTCATGCTGGAGAGAAACACTACAAATGTGAAAAATGTGGCAAAGATTTTAAACAGTCCTCACACCTTACTAAACATAAGAC_T:683,0,1398:21383385	3	1	3	0
chr19	21383502	21383502	A	G	exonic	ZNF738	.	nonsynonymous SNV	ZNF738:NM_001355237:exon5:c.A956G:p.E319G	.	504	1000	18	0	0	18	0.00891972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00738818	.	.	.	.	.	.	.	.	0.0058014	151	26028	rs183182806	0.0100	0.0096	0.0096	0.0103	0.0157	0.0098	0.0097	0.0150	0.0147	0.0016	0.0054	0.0089	0	0.0028	0.0133	0.0113	0.0096	0.0157	0.0068	0.0069	0.0071	0.0065	0.0169	0.0065	0.0063	0.0139	0.0128	0.0019	0	0.0073	0.0127	0.0002	0.0015	0.0103	0.0100	0.0099	0.0169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	689.49	60	chr19	21383502	.	A	G	689.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.99;DP=295;ExcessHet=0;FS=2.296;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.49;ReadPosRankSum=0.704;SOR=0.368	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:38,22:60:99:0|1:21383385_TAATTCATGCTGGAGAGAAACACTACAAATGTGAAAAATGTGGCAAAGATTTTAAACAGTCCTCACACCTTACTAAACATAAGAC_T:700,0,1375:21383385	6	0	1	0
chr19	22316198	22316198	G	C	exonic	ZNF729	.	nonsynonymous SNV	ZNF729:NM_001242680:exon4:c.G2781C:p.K927N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00293201306728	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	1.362e-06	1.376e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	6.583e-06	6.57e-06	0	1.348e-05	6.563e-05	0	0	.	.	0	0	6.563e-05	0	0	0	0	0	0	0	.	.	.	0.007	0.69154	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1.395	0.35261	L	2.2	0.18570	T	.	.	.	0.171	0.18239	.	.	.	.	.	.	.	0.058258504	0.06822	T	0.002932	0.06221	T	.	.	.	.	0.0138822411134	0.00435	0.012044091657471518	0.01163	0.0352140113242	0.03713	0.32295113802	0.13868	T	0.004825	0.04238	T	-0.370496	0.03569	T	-0.769969	0.02769	T	.	.	.	0.543046	0.18512	T	0.035161365	0.04086	0.054079033	0.09233	0.035161365	0.04086	0.054079033	0.09232	-7.993	0.61023	D	.	.	0.388	0.58901	A	.	.	1.750578	0.22270	15.55	0.38611272525210538	0.02614	0.02894	0.07684	N	AEFBI	0.033022	0.03841	N	-1.1036911148093	0.06578	0.3031679	-1.26899197595645	0.04856	0.230057	1.11604009436937E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.36	0.00226	0.13372	-0.224000	0.09169	.	.	0.211000	0.17986	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.1852:0.243:0.3268:0.245	0.534	0.00591	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	953.46	81	chr19	22316198	.	G	C	953.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.86;DP=404;ExcessHet=0;FS=4.261;MLEAC=1;MLEAF=0.071;MQ=56.41;MQRankSum=5.1;QD=11.77;ReadPosRankSum=-0.931;SOR=0.356	GT:AD:DP:GQ:PL	0/1:41,40:81:99:964,0,1122	6	0	1	0
chr19	22392982	22392982	C	A	splicing	ZNF98	NM_001098626:exon4:c.254-1G>T	.	.	.	536	964	21	1	0	23	0.0117888	0.9999	0.514	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0135	0.0109	0.0064	0.0323	0.0058	0.0148	0.0161	0.0052	3.84e-05	1	26028	rs753118485	0.0004	0.0076	0.0004	0.0005	0.0026	0.0004	0.0004	0.0015	0.0012	0.0004	0.0007	0.0003	0.0015	0.0016	0.0026	0.0003	0.0005	0.0008	0.0001	0.0034	0.0001	0.0001	0.0012	7.193e-05	5.931e-05	0.0005	0.0004	2.437e-05	0	0.0001	0.0003	0.0012	0	0	7.471e-05	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999913	0.19599	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.480276	0.00736	T	-0.92766	0.00342	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	1.988562	0.25265	16.70	0.29246123047690514	0.01542	0.00230	0.01288	N	AEFBI	.	.	.	-0.12472375991063	0.36319	2.097657	-0.603631867293508	0.19399	1.040641	3.2191850307567E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0443366	0.03230	1.56	-3.12	0.04959	0.694000	0.25190	.	.	0.296000	0.18849	0.005000	0.17040	0.001000	0.17328	0.017000	0.10941	0.2997:0.4494:0.0:0.2509	2.015	0.03283	988	0.01987	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	305.63	28	chr19	22392982	.	C	A	305.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.366;DP=189;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=59.14;MQRankSum=-1.376;QD=10.92;ReadPosRankSum=-1.167;SOR=0.399	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:19,9:28:99:0|1:22392975_T_C:316,0,763:22392975	6	0	1	0
chr19	22976595	22976595	C	T	exonic	ZNF728	.	nonsynonymous SNV	ZNF728:NM_001267716:exon4:c.G742A:p.V248I	.	418	1088	16	0	0	16	0.00729927	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00638978	0.0095	0.0006	0.0040	0.0006	0.0286	0.0083	0.0136	0.0196	0.0083569	1292	154602	rs144080172	0.0083	0.0083	0.0079	0.0086	0.0184	0.0081	0.0081	0.0176	0.0173	0.0012	0.0032	0.0048	0.0007	0.0247	0.0024	0.0076	0.0072	0.0184	0.0071	0.0070	0.0056	0.0087	0.0212	0.0067	0.0066	0.0178	0.0166	0.0011	0	0.0051	0.0041	0.0006	0.0332	0.0037	0.0070	0.0039	0.0212	.	.	.	0.473	0.12142	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.295	0.10161	N	2.3	0.16953	T	.	.	.	0.036	0.01068	.	.	.	.	.	.	.	0.004285425	0.00086	T	.	.	.	.	.	.	.	0.0401082797425	0.02173	0.0031814532368857817	0.00297	0.0224550323184	0.02262	0.225423663855	0.01647	T	0.001299	0.00775	T	-0.767209	0.00013	T	-0.859882	0.00844	T	.	.	.	0.168083	0.01566	T	0.013797643	0.00070	0.031487882	0.01744	0.013797643	0.00070	0.031487882	0.01744	-4.486	0.30705	T	.	.	0.080	0.07554	B	.	.	-0.321829	0.02522	0.300	0.40345600745476201	0.02841	0.00004	0.00092	N	AEFBHCI	0.013671	0.00190	N	.	.	.	.	.	.	2.29534227667703E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.945	-1.69	0.07747	-1.672000	0.02054	.	.	-0.751000	0.03586	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.419:0.0:0.581	5.127	0.14220	988	0.01987	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	.	.	.	.	.	.	.	.	0.07143	1275.44	93	chr19	22976595	.	C	T	1275.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.804;DP=308;ExcessHet=0;FS=0.779;MLEAC=1;MLEAF=0.071;MQ=59.93;MQRankSum=1.15;QD=13.71;ReadPosRankSum=-0.077;SOR=0.728	GT:AD:DP:GQ:PL	0/1:41,52:93:99:1286,0,1102	6	0	1	0
chr19	24107223	24107223	T	A	exonic	ZNF254	.	nonsynonymous SNV	ZNF254:NM_001278665:exon4:c.T261A:p.D87E	.	662	852	7	1	0	9	0.00525394	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	.	.	0.00559105	0.0017	0.0145	0.0054	0	0	0.0027	0	0.0003	0.0006468	100	154602	rs188355350	0.0018	0.0017	0.0020	0.0017	0.0186	0.0017	0.0017	0.0152	0.0139	0.0142	0.0041	0.0027	3.526e-05	0.0002	0.0186	0.0011	0.0055	0.0004	0.0059	0.0059	0.0059	0.0059	0.0161	0.0056	0.0055	0.0151	0.0147	0.0161	0	0.0079	0.0026	0	9.43e-05	0.0238	0.0011	0.0099	0	0.341	0.12673	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	5.71	0.00734	T	-0.35	0.12847	N	0.068	0.04072	-0.9322	0.43814	T	0.001	0.00318	T	5	0.0050144494	0.00108	T	.	.	.	0.004	0.00165	0.284	0.24121	0.0297737177859	0.01360	.	.	.	.	.	.	.	.	.	.	-0.753571	0.00017	T	-0.840949	0.01084	T	0.00129587996378418	0.00013	T	0.0860914	0.00631	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.23709	B	.	.	0.127209	0.05237	1.740	0.23749199529728601	0.01018	0.00244	0.01352	N	AEFGBI	0.028521	0.02526	N	-1.09361375042721	0.06760	0.3121246	-1.33538028191876	0.03981	0.1868411	3.6552778696993E-4	0.06707	0.732398	0.92422	0	0.743671	0.97443	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	0.418	-0.835	0.10230	-0.615000	0.05693	.	.	-0.565000	0.04808	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	.	.	.	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	.	.	.	.	.	.	.	.	0.07143	240.46	23	chr19	24107223	.	T	A	240.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.897;DP=200;ExcessHet=0;FS=3.834;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.45;ReadPosRankSum=-0.154;SOR=1.139	GT:AD:DP:GQ:PL	0/1:12,11:23:99:251,0,258	6	0	1	0
chr19	30007545	30007545	A	G	exonic	URI1	.	nonsynonymous SNV	URI1:NM_001252641:exon7:c.A539G:p.D180G,URI1:NM_003796:exon7:c.A593G:p.D198G	.	426	1068	27	1	0	29	0.0133949	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.00831901563935	0.0015	0.00179712	0.0028	0.0002	0.0003	0.0001	0	0.0027	0.0044	0.0087	0.0024773	383	154602	rs35808349	0.0016	0.0016	0.0013	0.0019	0.0088	0.0016	0.0015	0.0083	0.0081	0.0002	0.0005	0.0370	2.521e-05	0	0.0052	0.0003	0.0035	0.0088	0.0015	0.0015	0.0015	0.0015	0.0085	0.0013	0.0013	0.0064	0.0057	0.0001	0	0.0008	0.0366	0	0	0	0.0005	0.0024	0.0085	.	.	.	0.152	0.48080	T	0.001	0.07471	B	0.001	0.04355	B	0.506522	0.11890	N	0.815272	0.997412	0.22668	N	-0.11	0.04642	N	2.87	0.10386	T	.	.	.	0.127	0.17002	-0.9333	0.43650	T	0.015	0.05849	T	10	0.0029184222	0.00130	T	0.008319	0.22029	T	0.036	0.09122	.	.	0.19670166235	0.19296	0.1806272777807416	0.17981	.	.	0.3522772789	0.18257	T	0.018062	0.14625	T	-0.548704	0.00297	T	-0.55512	0.16839	T	0.000493352226057953	0.00004	T	0.662834	0.37546	T	0.03990745	0.05599	0.032111034	0.01896	0.03990745	0.05598	0.032111034	0.01896	-4.169	0.26954	T	.	.	0.077	0.06525	B	.;.;.	.;.;.	1.201174	0.15936	12.20	0.86444548530996701	0.16540	0.32829	0.24681	N	AEFGBI	0.208275	0.33437	N	-0.943709659497948	0.09835	0.4672198	-0.91507801104641	0.11738	0.5998493	0.436649672931487	0.20418	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.6	0.906	0.18444	1.155000	0.31311	1.839000	0.29174	0.749000	0.86810	0.650000	0.28172	0.406000	0.24735	0.272000	0.23818	0.53:0.2688:0.0723:0.129	3.248	0.06402	960	0.08626	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005539	0.000000	0.001359	0.000000	0.100000	0.000000	0.009146	0.015152	0.08333	455.27	40	chr19	30007545	.	A	G	455.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.115;DP=203;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.38;ReadPosRankSum=1.11;SOR=0.668	GT:AD:DP:GQ:PL	0/1:17,23:40:99:465,0,378	5	0	1	1
chr19	34944009	34944009	A	G	exonic	ZNF30	.	nonsynonymous SNV	ZNF30:NM_001099437:exon5:c.A1046G:p.E349G,ZNF30:NM_001099438:exon5:c.A1046G:p.E349G,ZNF30:NM_194325:exon5:c.A1043G:p.E348G	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.0019303063026	.	.	8.257e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs781073343	2.736e-06	2.736e-06	1.361e-06	4.125e-06	0.0003	6.4e-07	4.3e-07	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	8.993e-07	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.001	0.83351	D	0.974	0.57829	D	0.691	0.53831	P	.	.	.	.	0.999749	0.20516	N	1.825	0.47900	L	2.19	0.18724	T	-5.18	0.83557	D	0.157	0.16586	-1.0763	0.08083	T	0.069	0.28113	T	9	0.18044981	0.33230	T	0.00193	0.03430	T	0.019	0.03383	0.506	0.60078	0.494568219684	0.49091	0.024335937995972414	0.02384	0.231264525672	0.25667	0.331524670124	0.15165	T	0.09148	0.38803	T	-0.260985	0.12786	T	-0.515809	0.20720	T	0.9616659283638	0.66146	D	0.10159	0.00756	T	0.42908704	0.62693	0.6374821	0.78830	0.42908704	0.62693	0.6374821	0.78831	-8.051	0.61417	D	.	.	0.298	0.53800	B	.;.;.	.;.;.	3.757582	0.53892	23.4	0.99700079157994748	0.80591	0.11474	0.16658	N	AEFDGBHCI	0.106437	0.21236	N	-0.321203082286082	0.28344	1.562576	-0.516497716440736	0.21705	1.175441	0.18325233202031	0.17900	0.460665	0.09802	0	0.588066	0.40923	0	0.575934	0.27490	0	0.636168	0.56350	0	.	.	2.23	2.23	0.27189	0.092000	0.14905	0.036000	0.13800	0.592000	0.32167	0.000000	0.06391	0.000000	0.08366	0.885000	0.42453	1.0:0.0:0.0:0.0	8.004	0.29476	302	0.87871	.;.;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	.	.	.	.	.	.	.	.	0.1429	3672.32	115	chr19	34944009	.	A	G	3672.32	.	AC=2;AF=0.143;AN=14;DP=354;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=31.93;SOR=0.859	GT:AD:DP:GQ:PL	1/1:0,115:115:99:3693,345,0	6	1	0	0
chr19	36006526	36006526	A	G	exonic	SYNE4	.	nonsynonymous SNV	SYNE4:NM_001297735:exon3:c.T425C:p.I142T,SYNE4:NM_001039876:exon5:c.T764C:p.I255T	Deafness, autosomal recessive 76, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	497517	not_provided|not_specified|SYNE4-related_disorder	MedGen:C3661900|MedGen:CN169374|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.116	0.00806147804124	0.0009	0.000199681	0.0007	0.0006	0	0	0	0.0008	0	0.0014	0.0004722	73	154602	rs199853331	0.0005	0.0005	0.0004	0.0005	0.0020	0.0004	0.0004	0.0017	0.0017	0.0004	0.0001	0.0078	5.066e-05	1.888e-05	0.0003	0.0002	0.0007	0.0020	0.0004	0.0004	0.0004	0.0005	0.0023	0.0004	0.0003	0.0013	0.0010	0.0004	0	6.542e-05	0.0069	0	0	0	0.0002	0	0.0023	0.002	0.72154	D	0.015	0.61642	D	0.421	0.43659	B	0.054	0.34892	B	0.175073	0.17261	N	0.601926	0.999538	0.21028	N	1.59	0.40313	L	1.19	0.37578	T	-3.06	0.65397	D	0.298	0.42639	-1.0250	0.22083	T	0.057	0.24130	T	10	0.009841025	0.00221	T	0.008061	0.21368	T	0.116	0.32463	.	.	0.506068822696	0.50244	0.11414871059187824	0.11342	0.45399419746	0.45084	0.324309319258	0.14074	T	0.085512	0.37517	T	-0.382779	0.02992	T	-0.335842	0.40814	T	0.0338687005375086	0.02616	T	0.79972	0.44511	T	0.2554635	0.48580	0.27263135	0.53175	0.2554635	0.48580	0.27263135	0.53174	-1.456	0.01676	T	0.1930892791184257	0.25396	0.153	0.33913	B	.;.;.	.;.;.	2.837389	0.37425	20.5	0.99645391696052399	0.76943	0.45144	0.27473	N	AEFDBCI	0.278001	0.39238	N	0.0178629270382107	0.42667	2.575184	0.13067327349688	0.46126	2.863729	0.635137076243517	0.22003	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	5.6	5.6	0.84997	2.115000	0.41544	11.085000	0.85821	0.756000	0.94297	0.498000	0.26940	1.000000	0.68203	0.571000	0.30675	1.0:0.0:0.0:0.0	12.170	0.53461	743	0.52768	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001009	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.1667	428.9	15	chr19	36006526	.	A	G	428.9	.	AC=2;AF=0.167;AN=12;DP=170;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=28.59;SOR=0.818	GT:AD:DP:GQ:PL	1/1:0,15:15:45:448,45,0	5	1	0	1
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|1:54,6:60:13:0|1:37887093_A_G:13,0,2013:37887093	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|1:41,18:59:99:0|1:37887093_A_G:227,0,948:37887093	1	0	5	1
chr19	39532663	39532663	T	C	exonic	EID2B	.	nonsynonymous SNV	EID2B:NM_152361:exon1:c.A140G:p.E47G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.0131206943416	.	.	.	.	.	.	.	.	.	.	.	.	.	rs868278339	6.873e-07	6.84e-07	0	1.382e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.023	0.57104	D	0.989	0.62824	D	0.631	0.51788	P	.	.	.	.	1	0.08975	N	0.75	0.19020	N	1.22	0.37052	T	-4.66	0.79482	D	0.115	0.10340	-1.0636	0.10878	T	0.070	0.28642	T	9	0.2007677	0.36136	T	0.013121	0.32271	T	0.030	0.07022	0.198	0.11110	0.406120066682	0.40223	0.12071891244742598	0.11998	1.31982225195	0.83423	0.593643844128	0.52008	T	0.114356	0.43212	T	-0.208982	0.19521	T	-0.537964	0.18497	T	0.788138151168823	0.45568	D	0.353865	0.07983	T	0.09356475	0.21979	0.25266573	0.50900	0.09356475	0.21978	0.25266573	0.50899	-2.829	0.08453	T	.	.	0.076	0.06069	B	.	.	1.396206	0.18099	13.55	0.99605152835104283	0.74456	0.06986	0.13012	N	ALL	0.048299	0.08228	N	-0.58197349430479	0.19493	1.020601	-0.787437557354188	0.14803	0.7753858	0.999999999701527	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.519653	0.09787	0	0.372554	0.06265	0	.	.	2.23	1.13	0.19758	-0.171000	0.09872	.	.	-0.178000	0.10482	0.002000	0.15269	0.000000	0.08366	0.029000	0.12982	0.0:0.0:0.3097:0.6903	5.115	0.14162	819	0.41190	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001011	0.000000	0.001359	0.000000	0.000000	0.000000	0.003067	0.000000	0.1429	1656.24	55	chr19	39532663	.	T	C	1656.24	.	AC=2;AF=0.143;AN=14;DP=242;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=30.11;SOR=0.97	GT:AD:DP:GQ:PL	1/1:0,55:55:99:1677,165,0	6	1	0	0
chr19	41621759	41621759	A	T	exonic	CEACAM4	.	nonsynonymous SNV	CEACAM4:NM_001362493:exon2:c.T74A:p.V25D,CEACAM4:NM_001362495:exon3:c.T434A:p.V145D,CEACAM4:NM_001817:exon3:c.T434A:p.V145D	.	409	1110	2	0	1	3	0.00090009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.0012161822642	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.50676	D	0.033	0.55341	D	0.006	0.13644	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	1.39	0.34934	L	5.24	0.01150	T	0.02	0.06739	N	0.257	0.35408	-0.9230	0.45141	T	0.002	0.00615	T	9	0.07355431	0.11128	T	0.001216	0.01583	T	0.007	0.00512	0.437	0.48993	0.107399877778	0.10242	0.33770240976302446	0.33683	0.0390414745784	0.04153	0.353566288948	0.18445	T	9.56E-4	0.00501	T	-0.314354	0.07371	T	-0.689324	0.06428	T	0.0549453909089964	0.06348	T	.	.	.	0.06719068	0.14526	0.07130427	0.15254	0.06719068	0.14526	0.07130427	0.15254	-3.599	0.17842	T	.	.	0.107	0.30318	B	.;.	.;.	0.037489	0.04546	1.237	0.50957148333705182	0.04476	0.00249	0.01374	N	AEFDBI	0.041257	0.06249	N	-1.51479152674632	0.01752	0.07671975	-1.61233519395972	0.01582	0.07173533	0.999884672001959	0.44867	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.64	-3.14	0.04928	-0.994000	0.03827	-20.000000	0.00162	-1.126000	0.01464	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3842:0.0:0.3634:0.2524	2.060	0.03371	845	0.36510	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	1272.32	42	chr19	41621759	.	A	T	1272.32	.	AC=2;AF=0.143;AN=14;DP=215;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=30.29;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,42:42:99:1293,126,0	6	1	0	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	0/1:34,9:45:5:.:.:5,0,909:.	3	0	3	1
chr19	42907590	42907590	G	A	exonic	PSG6	.	nonsynonymous SNV	PSG6:NM_001031850:exon4:c.C971T:p.T324I,PSG6:NM_002782:exon4:c.C971T:p.T324I	.	11	1499	12	0	0	12	0.00398671	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.000935690445101	0.0002	0.00159744	0.0024	0.0005	0.0007	0	0.0018	0.0037	0	0.0015	0.0005498	85	154602	rs199858569	0.0042	0.0056	0.0043	0.0042	0.0051	0.0041	0.0041	0.0050	0.0049	0.0006	0.0010	0.0005	2.522e-05	0.0011	0.0013	0.0051	0.0031	0.0022	0.0034	0.0034	0.0036	0.0031	0.0058	0.0031	0.0030	0.0054	0.0052	0.0010	0.0077	0.0016	0.0020	0.0002	0.0009	0	0.0058	0.0043	0.0025	0.122	0.28395	T	0.095	0.40267	T	0.023	0.18885	B	0.037	0.23121	B	.	.	.	.	0.888713	0.35905	D	1.715	0.44382	L	2.6	0.13204	T	-3.32	0.66085	D	0.138	0.19459	-1.0699	0.09436	T	0.030	0.13067	T	9	0.013592422	0.00288	T	9.36E-4	0.00911	T	0.036	0.09122	.	.	0.0138822411134	0.00435	0.06341894629387448	0.06280	.	.	.	.	.	0.019266	0.15384	T	-0.582192	0.00187	T	-0.605748	0.12333	T	0.00578023317583382	0.00063	T	0.666133	0.28234	T	0.09713385	0.22890	0.10541316	0.25339	0.09713385	0.22890	0.10541316	0.25338	-7.705	0.59042	D	.	.	0.093	0.16143	B	.;.	.;.	0.854798	0.12271	8.813	0.64076743511146561	0.07395	0.00550	0.02521	N	AEFI	0.027076	0.02148	N	-1.47845086084388	0.02002	0.08798357	-1.64577425260296	0.01398	0.06317328	8.51604559072499E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-0.336000	0.07908	-8.589000	0.00945	0.474000	0.21982	0.006000	0.17386	0.000000	0.08366	0.013000	0.09966	0.3397:0.2277:0.4326:0.0	3.035	0.05751	693	0.58582	.;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	.	.	.	.	.	.	.	.	0.1429	3606.22	83	chr19	42907590	.	G	A	3606.22	.	AC=2;AF=0.143;AN=14;DP=277;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=44.49;QD=29.56;SOR=2.698	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,83:83:99:1|1:42907586_C_T:3627,250,0:42907586	6	1	0	0
chr19	42907609	42907609	T	G	exonic	PSG6	.	nonsynonymous SNV	PSG6:NM_001031850:exon4:c.A952C:p.I318L,PSG6:NM_002782:exon4:c.A952C:p.I318L	.	11	1504	7	0	0	7	0.00232172	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.000569263377225	0.0006	0.00279553	0.0030	0.0007	0.0010	0.0001	0.0018	0.0044	0	0.0019	0.0020363	53	26028	rs144117726	0.0051	0.0055	0.0051	0.0050	0.0061	0.0050	0.0049	0.0060	0.0060	0.0007	0.0011	0.0007	0	0.0011	0.0015	0.0061	0.0036	0.0022	0.0033	0.0033	0.0036	0.0031	0.0058	0.0031	0.0030	0.0053	0.0051	0.0011	0.0077	0.0016	0.0020	0.0002	0.0008	0	0.0058	0.0043	0.0027	1.0	0.00964	T	0.353	0.17320	T	0.001	0.09854	B	0.002	0.11217	B	.	.	.	.	1	0.08975	N	1.845	0.48678	L	2.68	0.12371	T	-0.31	0.12472	N	0.147	0.14905	-0.9277	0.44473	T	0.017	0.06759	T	9	0.006357372	0.00144	T	5.69E-4	0.00233	T	0.006	0.00375	.	.	0.0138822411134	0.00435	0.06322956702793507	0.06261	.	.	.	.	.	0.001763	0.01186	T	-0.626535	0.00100	T	-0.675802	0.07241	T	0.007311527448042	0.00084	T	0.0342966	0.00229	T	0.045040503	0.07305	0.032129508	0.01901	0.045040503	0.07305	0.032129508	0.01901	-4.834	0.34985	T	.	.	0.081	0.12891	B	.;.	.;.	-0.196963	0.03105	0.492	0.21319793278576071	0.00807	0.00342	0.01773	N	AEFI	0.036374	0.04837	N	-1.54120198126636	0.01586	0.06932399	-1.66197432300222	0.01315	0.0593398	6.79925162466352E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-0.583000	0.05900	-9.701000	0.00787	0.468000	0.21784	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2806:0.0:0.2847:0.4347	2.231	0.03751	693	0.58582	.;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	.	.	.	.	.	.	.	.	0.1429	3640.22	100	chr19	42907609	.	T	G	3640.22	.	AC=2;AF=0.143;AN=14;DP=299;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=47.86;QD=29.21;SOR=2.655	GT:AD:DP:GQ:PL	1/1:0,100:100:99:3661,300,0	6	1	0	0
chr19	44176977	44176977	C	T	exonic	ZNF226	.	nonsynonymous SNV	ZNF226:NM_001032372:exon6:c.C1715T:p.S572L,ZNF226:NM_001032373:exon6:c.C1715T:p.S572L,ZNF226:NM_001319088:exon6:c.C1715T:p.S572L,ZNF226:NM_001319090:exon6:c.C1715T:p.S572L,ZNF226:NM_001319089:exon7:c.C1715T:p.S572L,ZNF226:NM_016444:exon7:c.C1715T:p.S572L	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	.	0.0083	0.00838658	0.0027	0.0291	0.0012	0	0	0.0003	0.0011	0	0.0024709	382	154602	rs116372639	0.0009	0.0009	0.0010	0.0008	0.0297	0.0009	0.0008	0.0282	0.0276	0.0297	0.0013	0.0027	0	0	0.0016	4.317e-05	0.0021	6.956e-05	0.0084	0.0084	0.0087	0.0081	0.0290	0.0080	0.0079	0.0276	0.0271	0.0290	0	0.0031	0.0026	0	0	0	5.881e-05	0.0080	0.0002	0.264	0.16358	T	0.246	0.23984	T	0.999	0.77913	D	0.991	0.79672	D	0.017818	0.27632	N	0.000000	1	0.08975	N	2.085	0.57729	M	3.19	0.07353	T	-3.95	0.73477	D	0.326	0.38848	-1.1617	0.00716	T	0.022	0.09193	T	10	0.006456375	0.00146	T	.	.	.	0.098	0.28162	.	.	0.608945918356	0.60581	0.038745397616999605	0.03820	0.138354414191	0.15603	0.389660060406	0.23622	T	0.172206	0.52061	T	-0.600507	0.00145	T	-0.613734	0.11684	T	0.0533317606112498	0.06076	T	0.882712	0.60367	D	0.11542107	0.27237	0.16517721	0.38225	0.11542107	0.27237	0.16517721	0.38224	-6.388	0.49416	T	.	.	0.637	0.70377	P	.;.;.	.;.;.	2.383299	0.30594	18.49	0.9981899216720469	0.90238	0.34168	0.25003	N	AEFBHCI	0.183693	0.31102	N	0.205978747390244	0.51488	3.329672	0.0413167897453127	0.41653	2.50615	0.0208783378212349	0.13299	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.636168	0.56350	0	.	.	4.1	4.1	0.47196	0.054000	0.14087	.	.	0.581000	0.30040	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.0:0.8997:0.0:0.1003	9.995	0.41063	906	0.23090	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.003049	0.000000	0.07143	868.53	57	chr19	44176977	.	C	T	868.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.089;DP=242;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=59.86;MQRankSum=-0.787;QD=15.24;ReadPosRankSum=-0.073;SOR=0.675	GT:AD:DP:GQ:PL	0/1:23,34:57:99:879,0,583	6	0	1	0
chr19	44429103	44429103	G	A	exonic	ZNF229	.	nonsynonymous SNV	ZNF229:NM_001278510:exon6:c.C1660T:p.H554Y,ZNF229:NM_014518:exon6:c.C1678T:p.H560Y	.	411	1109	2	0	0	2	0.000900901	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.00239322513699	.	0.000199681	1.655e-05	0	0	0	0	1.499e-05	0	6.056e-05	1.94e-05	3	154602	rs559163646	4.104e-06	4.104e-06	2.722e-06	5.5e-06	1.159e-05	1.48e-06	9.7e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.496e-06	0	1.159e-05	1.317e-05	1.314e-05	2.577e-05	0	0.0004	2.19e-06	8.2e-07	7.318e-05	3.039e-05	0	0	0	0	0	0	0	0	0	0.0004	.	.	.	1.0	0.22561	T	.	.	.	.	.	.	.	.	.	.	0.999997	0.08975	N	.	.	.	.	.	.	.	.	.	0.088	0.06720	-0.9897	0.32677	T	0.148	0.47308	T	9	0.05945298	0.07148	T	0.002393	0.04673	T	.	.	0.31	0.28289	0.263612267334	0.25957	0.021077972891608492	0.02060	.	.	0.479188859463	0.35945	T	.	.	.	-0.186096	0.22834	T	-0.505091	0.21821	T	0.118523758567287	0.14285	T	0.140586	0.01132	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.24192	B	.;.	.;.	2.031783	0.25824	16.90	0.33662418094676194	0.02017	0.07346	0.13367	N	AEFBI	0.057481	0.10709	N	-0.454393644041482	0.23591	1.267958	-0.566764548086525	0.20362	1.096705	4.29140914626349E-4	0.06935	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.635551	0.53088	0	.	.	3.5	2.43	0.28797	0.357000	0.19935	.	.	0.610000	0.48991	0.000000	0.06391	0.000000	0.08366	0.155000	0.20479	0.1188:0.1996:0.4765:0.2051	1.998	0.03251	912	0.21483	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	.	.	.	.	.	.	.	.	0.07143	1289.44	99	chr19	44429103	.	G	A	1289.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.385;DP=443;ExcessHet=0;FS=2.629;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.02;ReadPosRankSum=1.17;SOR=1.001	GT:AD:DP:GQ:PL	0/1:49,50:99:99:1300,0,1320	6	0	1	0
chr19	44477868	44477868	G	C	exonic	ZNF180	.	nonsynonymous SNV	ZNF180:NM_001278508:exon4:c.C538G:p.L180V,ZNF180:NM_001278509:exon5:c.C532G:p.L178V,ZNF180:NM_001288759:exon5:c.C610G:p.L204V,ZNF180:NM_001291633:exon5:c.C532G:p.L178V,ZNF180:NM_013256:exon5:c.C613G:p.L205V	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	.	0.0053	0.00459265	0.0015	0.0163	0.0009	0	0	2.998e-05	0	0	0.0013777	213	154602	rs151269201	0.0004	0.0004	0.0005	0.0004	0.0147	0.0004	0.0004	0.0137	0.0132	0.0147	0.0010	0	0	0	0.0009	1.799e-05	0.0010	6.957e-05	0.0040	0.0040	0.0041	0.0039	0.0141	0.0038	0.0037	0.0131	0.0128	0.0141	0	0.0008	0	0	0	0.0034	5.881e-05	0.0038	0.0004	0.017	0.52492	D	0.084	0.41239	T	0.435	0.35719	B	0.124	0.32546	B	0.840146	0.09040	N	0.899723	1	0.08975	N	.	.	.	3.04	0.09262	T	-1.27	0.31981	N	0.119	0.20793	-1.0264	0.21625	T	0.015	0.06234	T	10	0.0033375323	0.00058	T	.	.	.	0.029	0.06676	.	.	0.252162846088	0.24830	0.047223287105714974	0.04665	0.0544721877756	0.06022	0.233831346035	0.02264	T	0.021156	0.16527	T	-0.65718	0.00065	T	-0.703796	0.05620	T	0.0153482663679258	0.00342	T	0.476852	0.25234	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.09965	B	.;.;.;.	.;.;.;.	0.198209	0.05832	2.275	0.9822558050768555	0.39343	0.00001	0.00044	N	AEFDGBCI	0.066825	0.13105	N	-0.524820175253104	0.21279	1.128146	-0.587880063307816	0.19809	1.064465	0.319438237502479	0.19369	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	4.89	2.78	0.31702	0.265000	0.18282	.	.	0.676000	0.76740	0.005000	0.17040	0.000000	0.08366	0.470000	0.28341	0.181:0.0:0.819:0.0	8.841	0.34301	900	0.24599	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	1238.53	92	chr19	44477868	.	G	C	1238.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.159;DP=287;ExcessHet=0;FS=0.778;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.46;ReadPosRankSum=-1.045;SOR=0.593	GT:AD:DP:GQ:PL	0/1:43,49:92:99:1249,0,1032	6	0	1	0
chr19	47802950	47802950	C	T	exonic	TPRX1	.	nonsynonymous SNV	TPRX1:NM_198479:exon2:c.G61A:p.A21T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.308	0.179139376124	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.565e-06	4.104e-06	4.236e-06	2.88e-06	4.584e-06	1.04e-06	7.6e-07	1.34e-06	9.8e-07	0	0	0	0	0	0	4.584e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.056	0.51737	T	0.684	0.41517	P	0.106	0.31143	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	-3.72	0.95528	D	-1.24	0.33598	N	0.089	0.08646	-0.1485	0.78952	T	0.646	0.87645	D	9	0.12844023	0.24433	T	0.179139	0.85403	D	0.308	0.62947	0.262	0.20631	0.49908893446	0.49543	0.3047607457654138	0.30389	0.0594577164127	0.06608	0.637289881706	0.58179	T	0.018743	0.16841	T	-0.0137623	0.49737	T	-0.257545	0.49069	T	0.149636450717668	0.17074	T	0.512349	0.34112	T	0.061200447	0.12646	0.09270531	0.21862	0.061200447	0.12646	0.09270531	0.21861	-8.059	0.61472	D	.	.	0.277	0.61020	B	.;.;.	.;.;.	0.188262	0.05748	2.192	0.92850274133466348	0.22389	0.00655	0.02844	N	AEFDBI	0.029838	0.02891	N	-1.10568404678302	0.06541	0.3013989	-1.29782192286162	0.04460	0.210441	8.59217441125104E-4	0.07917	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	1.4	-1.21	0.09033	-1.441000	0.02516	-2.505000	0.03673	-0.322000	0.05848	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4628:0.5372:0.0:0.0	5.623	0.16744	912	0.21483	Homeobox domain|Homeobox domain;Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|Homeobox 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	45.53	25	chr19	47802950	.	C	T	45.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.13;DP=207;ExcessHet=0;FS=2.269;MLEAC=1;MLEAF=0.071;MQ=57.97;MQRankSum=-0.106;QD=1.82;ReadPosRankSum=-1.113;SOR=1.577	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:21,4:25:56:0|1:47802950_C_T:56,0,605:47802950	6	0	1	0
chr19	48297459	48297459	-	GCG	exonic	CCDC114	.	nonframeshift insertion	CCDC114:NM_144577:exon14:c.1529_1530insCGC:p.A510_K511insA,CCDC114:NM_001364171:exon16:c.1640_1641insCGC:p.A547_K548insA	Ciliary dyskinesia, primary, 20, Autosomal recessive	411	1105	6	0	0	6	0.00270758	.	.	.	403767	ODAD1-related_disorder|Primary_ciliary_dyskinesia	.|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0003	.	0.0005	0.0001	9.638e-05	0.0004	0	0.0004	0	0.0017	0.0002689	7	26028	rs761748771	0.0005	0.0005	0.0004	0.0005	0.0023	0.0004	0.0004	0.0021	0.0020	3.007e-05	0.0001	0.0047	0.0001	2.18e-05	0.0023	0.0002	0.0006	0.0023	0.0004	0.0004	0.0004	0.0003	0.0008	0.0003	0.0003	0.0003	0.0003	4.814e-05	0	0.0002	0.0040	0.0002	0.0002	0	0.0004	0.0005	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	755.79	26	chr19	48297459	.	C	CGCG	755.79	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.137;DP=210;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=29.07;ReadPosRankSum=-1.505;SOR=0.573	GT:AD:DP:GQ:PL	0/1:7,19:26:99:766,0,237	6	0	1	0
chr19	48376227	48376227	G	A	exonic	SYNGR4	.	nonsynonymous SNV	SYNGR4:NM_012451:exon5:c.G614A:p.G205D	.	426	1091	5	0	0	5	0.00228624	.	.	.	2323472	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.023	0.00673333208439	7.7e-05	.	0.0001	0	0	0	0	7.495e-05	0	0.0007	0.00011	17	154602	rs376987626	5.609e-05	5.609e-05	5.173e-05	6.05e-05	0.0009	4.61e-05	4.236e-05	0.0003	0.0003	0	0	0	0	0	0.0009	3.597e-05	3.312e-05	0.0004	3.947e-05	3.941e-05	3.858e-05	4.041e-05	8.822e-05	1.717e-05	1.131e-05	3.763e-05	2.576e-05	0	0	0	0	0	0	0	8.822e-05	0	0	0.059	0.37536	T	0.1	0.38742	T	0.003	0.11197	B	0.005	0.11217	B	0.782057	0.06660	N	1.106500	1	0.08975	N	1.91	0.51138	L	0.66	0.52416	T	-0.82	0.22508	N	0.212	0.23632	-1.0248	0.22148	T	0.066	0.27364	T	10	0.0410825	0.02731	T	0.006733	0.17784	T	0.023	0.04649	.	.	0.119812018005	0.11559	0.5637676839706233	0.56303	0.108005847181	0.12179	0.318521022797	0.13197	T	0.005058	0.04495	T	-0.415446	0.01830	T	-0.485105	0.23906	T	0.0256853442608764	0.01363	T	0.39716	0.10029	T	0.062384624	0.13023	0.0844063	0.19415	0.062384624	0.13023	0.0844063	0.19415	-3.393	0.14963	T	.	.	0.088	0.11606	B	.	.	0.883687	0.12567	9.098	0.74997127712640554	0.10906	0.04328	0.09886	N	AEFGBI	0.060576	0.11522	N	-1.14096661805891	0.05930	0.271654	-1.1409621818824	0.06932	0.3353432	4.41434649992815E-5	0.03989	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.3	-1.2	0.09062	0.379000	0.20315	2.532000	0.33172	-0.153000	0.12021	0.254000	0.24889	0.083000	0.22416	0.062000	0.16114	0.2434:0.2788:0.3348:0.1431	1.212	0.01790	958	0.09170	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1330.46	105	chr19	48376227	.	G	A	1330.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.104;DP=289;ExcessHet=0;FS=0.726;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.67;ReadPosRankSum=0.215;SOR=0.804	GT:AD:DP:GQ:PL	0/1:50,55:105:99:1341,0,1161	6	0	1	0
chr19	50480132	50480132	C	A	exonic	EMC10	.	nonsynonymous SNV	EMC10:NM_175063:exon4:c.C319A:p.L107M,EMC10:NM_206538:exon4:c.C319A:p.L107M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.169	0.0436722896927	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.34621	T	0.0	0.92824	D	0.99	0.90584	D	0.839	0.84481	P	0.000001	0.62929	D	0.000000	0.999846	0.49770	D	2.395	0.69210	M	.	.	.	-0.95	0.25332	N	0.512	0.54322	-0.4887	0.69054	T	0.323	0.69151	T	9	0.39067212	0.54868	T	0.043672	0.61105	D	0.169	0.43123	0.654	0.79172	0.29385284311	0.29004	0.4735325124346244	0.47272	0.612769194056	0.55863	0.736290991306	0.72427	T	0.062707	0.31987	T	-0.0677607	0.41683	T	-0.33511	0.40897	T	0.685453236103058	0.40038	D	0.846715	0.52677	T	0.29766884	0.52694	0.14144748	0.33685	0.29766884	0.52694	0.14144748	0.33684	-8.11	0.64753	D	.	.	0.221	0.45273	B	.;.;.	.;.;.	2.635108	0.34279	19.58	0.99386411618951853	0.62113	0.93090	0.57302	D	AEFDGBI	0.254685	0.37395	N	0.21976439529462	0.52159	3.391778	0.0900049911988861	0.44043	2.693863	0.59340465301339	0.21665	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	3.92	2.84	0.32241	-0.559000	0.06062	0.737000	0.21131	-0.182000	0.10109	0.000000	0.06391	0.960000	0.29291	0.918000	0.45347	0.0:0.891:0.0:0.109	10.378	0.43275	730	0.54327	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	211.27	48	chr19	50480132	.	C	A	211.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.051;DP=218;ExcessHet=0;FS=29.256;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=4.4;ReadPosRankSum=1.31;SOR=4.975	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:37,11:48:99:0|1:50480131_C_A:221,0,1351:50480131	5	0	1	1
chr19	50548700	50548700	C	T	exonic	LRRC4B	.	nonsynonymous SNV	LRRC4B:NM_001080457:exon2:c.G139A:p.A47T,LRRC4B:NM_001348568:exon2:c.G139A:p.A47T	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.0682202126822	.	.	0.0002	0	0	0	0	0.0004	0	0	1.94e-05	3	154602	rs759887922	1.005e-05	1.505e-05	8.508e-06	1.163e-05	0.0004	5.83e-06	4.56e-06	6.568e-05	2.661e-05	0	0	0	0	0	0.0004	8.325e-06	3.449e-05	1.257e-05	1.974e-05	1.97e-05	2.572e-05	1.347e-05	6.546e-05	5.25e-06	2.46e-06	.	.	2.416e-05	0	6.546e-05	0	0	0	0	1.472e-05	0	0	0.143	0.25355	T	0.048	0.48594	D	0.581	0.38837	P	0.115	0.31843	B	.	.	.	.	0.656086	0.30490	N	0	0.06538	N	0.21	0.63911	T	-0.49	0.15578	N	0.361	0.40364	-1.0208	0.23454	T	0.079	0.31375	T	9	0.1216566	0.23066	T	0.06822	0.70390	D	0.081	0.23632	0.305	0.27485	0.658784694789	0.65593	.	.	1.62447642288	0.89127	0.738164424896	0.72702	T	0.004617	0.08389	T	-0.0870133	0.38568	T	-0.362765	0.37733	T	0.519598066806793	0.33351	D	0.753225	0.37546	T	0.06404324	0.13547	0.09562449	0.22686	0.06404324	0.13547	0.09562449	0.22686	-5.041	0.37282	T	.	.	0.080	0.10111	B	.;.;.	.;.;.	4.280281	0.65190	24.8	0.99872978214563113	0.95076	0.45129	0.27470	N	AEFDBI	0.176802	0.30402	N	-0.38745897463761	0.25914	1.410391	-0.30626796725312	0.27896	1.551237	0.998525460561048	0.37129	0.646311	0.45356	0	0.59043	0.45803	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	3.66	3.66	0.41111	2.209000	0.42445	5.518000	0.48815	0.585000	0.30472	0.599000	0.27739	1.000000	0.68203	0.936000	0.47498	0.0:1.0:0.0:0.0	11.047	0.47082	701	0.57775	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003623	0.005747	0.002801	0.006061	0.000000	0.008772	0.003125	0.000000	0.08333	327.27	29	chr19	50548700	.	C	T	327.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.51;DP=205;ExcessHet=0;FS=1.485;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.29;ReadPosRankSum=0.71;SOR=0.951	GT:AD:DP:GQ:PL	0/1:17,12:29:99:337,0,382	5	0	1	1
chr19	50907002	50907002	C	T	exonic	KLK4	.	nonsynonymous SNV	KLK4:NM_001302961:exon5:c.G412A:p.V138M,KLK4:NM_004917:exon5:c.G697A:p.V233M	Amelogenesis imperfecta, type IIA1, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	974178	Inborn_genetic_diseases|KLK4-related_disorder	MeSH:D030342,MedGen:C0950123|.	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.262	0.014883786564	0.0015	.	0.0009	0.0008	8.637e-05	0.0005	0.0003	0.0014	0	6.057e-05	0.0008603	133	154602	rs140350753	0.0018	0.0018	0.0018	0.0017	0.0022	0.0017	0.0017	0.0021	0.0021	0.0003	0.0003	0	0.0004	0.0002	0.0007	0.0022	0.0021	5.797e-05	0.0010	0.0010	0.0012	0.0008	0.0019	0.0009	0.0008	0.0016	0.0015	0.0003	0	6.539e-05	0	0.0012	0	0	0.0019	0.0009	0	0.176	0.22312	T	0.217	0.26145	T	.	.	.	.	.	.	0.124507	0.02755	N	2.055780	1	0.08975	N	.	.	.	-2.45	0.88847	D	0.16	0.05217	N	0.087	0.06454	-0.3747	0.72817	T	0.563	0.84119	D	10	0.06443933	0.08546	T	0.014884	0.35280	T	0.262	0.57482	.	.	0.559006825661	0.55561	0.18900249043649855	0.18818	0.34989876258	0.36836	0.294121563435	0.09528	T	.	.	.	-0.390888	0.02655	T	-0.353275	0.38830	T	0.792617857456207	0.45861	D	0.215178	0.02674	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.38426	B	.	.	-0.991730	0.00783	0.025	0.99187225893150976	0.54877	0.00338	0.01756	N	AEFDBI	0.025220	0.01691	N	-0.892256589626733	0.11025	0.5299057	-1.1172632030744	0.07370	0.3582409	0.00849070116123737	0.11685	0.428477	0.06694	0	0.547309	0.14657	0	0.491513	0.07944	0	0.613276	0.41899	0	.	.	3.63	-2.25	0.06498	-5.091000	0.00179	-13.986000	0.00427	-0.850000	0.02721	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3169:0.3722:0.0:0.3109	3.219	0.06309	799	0.44747	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin 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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	786.44	81	chr19	50907002	.	C	T	786.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.18;DP=284;ExcessHet=0;FS=1.819;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.71;ReadPosRankSum=-1.893;SOR=0.604	GT:AD:DP:GQ:PL	0/1:46,35:81:99:797,0,1044	6	0	1	0
chr19	52115925	52115925	T	G	exonic	ZNF616	.	nonsynonymous SNV	ZNF616:NM_178523:exon4:c.A1239C:p.E413D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.000579544289688	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.44905	T	0.003	0.11197	B	0.012	0.16012	B	.	.	.	.	0.999992	0.08975	N	1.05	0.26816	L	2.22	0.18248	T	.	.	.	0.087	0.06454	-1.0065	0.28004	T	0.081	0.32031	T	8	0.07457626	0.11418	T	5.8E-4	0.00246	T	.	.	0.434	0.48500	0.173771789658	0.16945	0.009556299197537034	0.00918	0.0670236021482	0.07481	0.270970135927	0.06268	T	0.046223	0.27359	T	-0.345522	0.05015	T	-0.734095	0.04145	T	0.0541181106021342	0.06210	T	0.117988	0.00908	T	0.112809435	0.26648	0.109048225	0.26276	0.112809435	0.26648	0.109048225	0.26276	-6.599	0.51045	T	.	.	0.195	0.41557	B	.	.	0.408268	0.07791	4.482	0.98618995861303571	0.43745	0.00006	0.00120	N	AEFDGBHCI	0.064948	0.12640	N	-1.14315971418522	0.05893	0.2698708	-1.26736088421117	0.04879	0.231203	0.00736712901817276	0.11448	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	1.08	0.012	0.13409	-4.875000	0.00204	.	.	-0.355000	0.05542	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.0:0.4834:0.0:0.5166	4.093	0.09454	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	.	.	.	.	.	.	.	.	0.07143	1430.44	94	chr19	52115925	.	T	G	1430.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.912;DP=277;ExcessHet=0;FS=2.72;MLEAC=1;MLEAF=0.071;MQ=59.63;MQRankSum=0.121;QD=15.22;ReadPosRankSum=1.21;SOR=0.962	GT:AD:DP:GQ:PL	0/1:43,51:94:99:1441,0,1186	6	0	1	0
chr19	53810880	53810880	G	A	exonic	NLRP12	.	nonsynonymous SNV	NLRP12:NM_001277126:exon3:c.C779T:p.T260M,NLRP12:NM_001277129:exon3:c.C779T:p.T260M,NLRP12:NM_144687:exon3:c.C779T:p.T260M	Familial cold autoinflammatory syndrome 2, Autosomal dominant	0	1507	14	1	0	16	0.00528053	.	.	.	350326	NLRP12-related_disorder|not_provided|Autoinflammatory_syndrome|Familial_cold_autoinflammatory_syndrome_2	.|MedGen:C3661900|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MONDO:MONDO:0012724,MedGen:C2673198,OMIM:611762,Orphanet:247868	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.293	0.0192899946617	0.0002	0.000399361	0.0007	9.653e-05	8.664e-05	0.0001	0	0.0005	0.0011	0.0025	0.0005757	89	154602	rs150280940	0.0004	0.0004	0.0003	0.0005	0.0031	0.0004	0.0004	0.0028	0.0027	0	0.0002	0	2.519e-05	5.623e-05	0.0010	0.0003	0.0005	0.0031	0.0003	0.0003	0.0003	0.0003	0.0017	0.0003	0.0002	0.0008	0.0006	0.0001	0	0.0002	0	0	9.42e-05	0.0068	0.0004	0.0009	0.0017	0.022	0.49117	D	0.105	0.41405	T	0.864	0.47514	P	0.399	0.44455	B	0.426532	0.04679	N	1.495180	1	0.08975	N	1.61	0.41143	L	-1.21	0.78645	T	-1.94	0.47514	N	0.136	0.18239	-0.6453	0.62918	T	0.413	0.76088	T	10	0.018002838	0.00388	T	0.01929	0.41613	T	0.293	0.61272	.	.	0.878304472939	0.87711	0.1772274434793367	0.17641	0.204375611468	0.22864	0.362346231937	0.19727	T	0.165943	0.51199	T	-0.432788	0.01426	T	-0.399684	0.33422	T	0.0184567838818328	0.00562	T	0.770023	0.39993	T	0.059065465	0.11959	0.08298804	0.18983	0.06333167	0.13325	0.10124752	0.24231	-5.212	0.39285	T	.	.	0.075	0.05890	B	.;.;.;.;.	.;.;.;.;.	0.693884	0.10624	7.327	0.96405621043405154	0.29702	0.04176	0.09674	N	AEFBI	0.102014	0.20476	N	-0.398168072505235	0.25534	1.386813	-0.564054897555743	0.20433	1.100859	0.00394253236248269	0.10351	0.623552	0.39893	0	0.573888	0.26702	0	0.667671	0.60360	0	0.613276	0.41899	0	.	.	3.99	1.6	0.22686	-0.763000	0.04846	.	.	0.618000	0.50648	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.1183:0.1942:0.6875:0.0	6.011	0.18804	994	0.00715	NACHT nucleoside triphosphatase|NACHT nucleoside triphosphatase;.;.;NACHT nucleoside triphosphatase|NACHT nucleoside triphosphatase;NACHT nucleoside triphosphatase|NACHT nucleoside triphosphatase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1393.63	96	chr19	53810880	.	G	A	1393.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.22;DP=310;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.52;ReadPosRankSum=-0.554;SOR=0.728	GT:AD:DP:GQ:PL	0/1:40,56:96:99:1404,0,836	6	0	1	0
chr19	54221870	54221870	C	A	exonic	LILRB3	.	nonsynonymous SNV	LILRB3:NM_001081450:exon4:c.G616T:p.V206L,LILRB3:NM_001320960:exon4:c.G616T:p.V206L,LILRB3:NM_006864:exon4:c.G616T:p.V206L	.	308	1206	8	0	0	8	0.00330579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.00253250607779	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1405632622	0.0020	0.0027	0.0021	0.0019	0.0030	0.0019	0.0019	0.0026	0.0024	0.0003	0.0030	0.0048	0	1.911e-05	0.0024	0.0021	0.0024	0.0015	0.0022	0.0028	0.0021	0.0023	0.0084	0.0020	0.0019	0.0072	0.0067	0.0004	0	0.0084	0.0056	0	0	0	0.0022	0.0047	0.0013	0.456	0.09401	T	0.267	0.23298	T	.	.	.	.	.	.	0.734583	0.09826	N	0.854162	0.999695	0.20667	N	.	.	.	5.81	0.00662	T	-2.47	0.56787	N	0.098	0.08646	-0.9034	0.47628	T	0.005	0.01797	T	10	0.015370727	0.00323	T	0.002533	0.05065	T	0.028	0.06331	0.381	0.39807	0.168933306366	0.16529	0.06945093480949274	0.06883	1.81973249962	0.91917	0.321139514446	0.13594	T	.	.	.	-0.280297	0.10637	T	-0.640403	0.09639	T	0.294017970561981	0.24757	T	0.672833	0.28129	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	0.42170	B	.;.;.	.;.;.	-0.448933	0.02037	0.184	0.80279008877099323	0.13128	0.01867	0.05758	N	AEFI	0.078528	0.15846	N	-0.821767774725446	0.12754	0.6237559	-0.991268897138185	0.09980	0.4998298	1.76737128854528E-6	0.01202	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.87	-0.78	0.10416	-3.348000	0.00557	.	.	0.523000	0.23987	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.207:0.3879:0.4051:0.0	5.884	0.18119	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	886.44	92	chr19	54221870	.	C	A	886.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.986;DP=290;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=53.14;MQRankSum=1.43;QD=9.64;ReadPosRankSum=1.8;SOR=0.715	GT:AD:DP:GQ:PL	0/1:52,40:92:99:897,0,1679	6	0	1	0
chr19	54463480	54463480	G	A	exonic	LENG9	.	nonsynonymous SNV	LENG9:NM_001301782:exon1:c.C47T:p.T16M,LENG9:NM_198988:exon1:c.C113T:p.T38M	.	421	1054	44	3	0	50	0.0231696	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	.	.	0.0071885	0.0667	0	0	0	.	0.125	0.1667	0.0619	0.0018305	283	154602	rs144782338	0.0074	0.0069	0.0072	0.0076	0.0358	0.0072	0.0072	0.0304	0.0284	0.0019	0.0071	0.0287	0.0015	0.0098	0.0358	0.0068	0.0096	0.0142	0.0060	0.0061	0.0058	0.0063	0.0153	0.0057	0.0056	0.0125	0.0115	0.0012	0	0.0105	0.0308	0.0014	0.0067	0.0377	0.0063	0.0081	0.0153	.	.	.	0.054	0.47097	T	.	.	.	.	.	.	0.043755	0.01924	U	3.158330	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.132	0.12770	-1.0515	0.13981	T	0.018	0.07282	T	10	0.0029560328	0.00048	T	.	.	.	.	.	.	.	.	.	0.2530297997198586	0.25216	.	.	0.756334781647	0.75384	T	0.012156	0.10734	T	-0.463156	0.00939	T	-0.423788	0.30643	T	0.0473489084509676	0.05028	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	0.32780	B	.	.	1.141636	0.15289	11.74	0.99015246300985382	0.50463	0.00856	0.03410	N	ALL	0.042906	0.06716	N	-0.802475667646566	0.13247	0.6512318	-0.979959058866059	0.10236	0.5142262	0.999999999956359	0.74766	0.024636	0.00146	3	0.218748	0.04544	0	0.239995	0.05000	1	0.56214	0.19341	0	.	.	2.81	0.368	0.15378	0.092000	0.14905	.	.	-0.249000	0.07183	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1513:0.0:0.5955:0.2532	3.633	0.07681	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.061388	0.040541	0.085987	0.105263	0.000000	0.038462	0.038462	0.014085	0.07143	259.63	17	chr19	54463480	.	G	A	259.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.187;DP=150;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.27;ReadPosRankSum=0.755;SOR=0.399	GT:AD:DP:GQ:PL	0/1:6,11:17:99:270,0,113	6	0	1	0
chr19	54739533	54739533	C	A	exonic	KIR2DL1;KIR2DL2;KIR2DL3;KIR2DS2;KIR2DS3;LOC102725023	.	nonsynonymous SNV	KIR2DS2:NM_001291695:exon2:c.C61A:p.P21T,KIR2DS2:NM_001291696:exon2:c.C61A:p.P21T,KIR2DS2:NM_001291700:exon2:c.C61A:p.P21T,KIR2DS2:NM_001291701:exon2:c.C61A:p.P21T,LOC102725023:NM_001360171:exon2:c.C61A:p.P21T,KIR2DS2:NM_012312:exon2:c.C61A:p.P21T,KIR2DS3:NM_012313:exon2:c.C61A:p.P21T,KIR2DL1:NM_014218:exon2:c.C61A:p.P21T,KIR2DL2:NM_014219:exon2:c.C61A:p.P21T,KIR2DL3:NM_015868:exon2:c.C61A:p.P21T	.	407	439	674	2	0	678	0.435733	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.000629482271791	.	.	1.26e-05	0	0	0	0	0	0	0.0002	0.0001153	3	26028	rs143258060	0.0001	0.0014	0.0001	0.0001	0.0003	0.0001	9.739e-05	0.0002	0.0002	0	0.0002	0	7.578e-05	0.0015	0.0002	4.598e-05	8.31e-05	0.0003	0.0003	0.0064	0.0002	0.0005	0.0007	0.0002	0.0002	0.0004	0.0003	9.821e-05	0	0.0007	0	0.0002	0.0010	0	0.0003	0	0.0004	0.0	0.91255	D	0.05	0.48080	T	0.039	0.21116	B	0.022	0.19653	B	.	.	.	.	1	0.08975	N	1.675	0.43121	L	7.25	0.00428	T	-2.83	0.59710	D	0.057	0.02861	-0.7967	0.55338	T	0.003	0.00929	T	9	0.04721421	0.04010	T	6.29E-4	0.00319	T	0.067	0.19503	0.275	0.22687	0.333906830038	0.33007	0.11003837353837338	0.10932	3.22852605899	0.99523	.	.	.	0.024485	0.18493	T	-0.40546	0.02131	T	-0.633654	0.10139	T	0.262085987067051	0.23406	T	.	.	.	0.08533072	0.19789	0.12122417	0.29249	0.08533072	0.19789	0.12122417	0.29248	-6.294	0.48674	T	.	.	0.091	0.13268	B	.	.	-0.337065	0.02459	0.283	0.40733743298301972	0.02894	0.00183	0.01069	N	AEFDGBI	0.020550	0.00823	N	-1.61360564278005	0.01198	0.05208234	-1.880969786367	0.00533	0.02366577	0.225960784001686	0.18410	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.418	-0.836	0.10225	-1.270000	0.02939	.	.	-4.224000	0.00037	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3954:0.2043:0.1975:0.2028	0.314	0.00272	964	0.07719	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4286	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	0/1:223,71:294:99:1221,0,6754	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	0/1:116,86:202:99:1691,0,3182	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	0/1:160,80:240:99:2373,0,4384	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	0/1:173,77:250:99:.:.:2640,0,6933:.	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|1:189,39:228:99:0|1:54752482_T_C:1069,0,7775:54752482	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|1:178,20:198:99:0|1:54752511_G_A:304,0,7312:54752511	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|1:212,35:247:99:0|1:54760643_A_G:832,0,8665:54760643	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|1:207,37:244:99:0|1:54760643_A_G:931,0,8556:54760643	3	0	4	0
chr19	54760659	54760659	G	A	exonic	LOC112267881	.	unknown	UNKNOWN	.	417	909	196	0	0	196	0.0973188	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs57865271	1.259e-05	2.057e-05	1.532e-05	9.832e-06	3.033e-05	7.87e-06	6.49e-06	3.9e-06	2.82e-06	3.033e-05	2.283e-05	0	0	0	0	8.284e-06	0.0001	1.176e-05	4.775e-05	8.644e-05	3.992e-05	5.599e-05	0.0003	2.182e-05	1.574e-05	9.529e-05	5.69e-05	2.488e-05	0	0.0003	0	0	0	0	3.045e-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	1099.24	242	chr19	54760659	.	G	A	1099.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-1.327;DP=1318;ExcessHet=0.3476;FS=0.55;MLEAC=2;MLEAF=0.143;MQ=52.82;MQRankSum=-4.982;QD=3.26;ReadPosRankSum=1.83;SOR=0.621	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:204,38:242:99:0|1:54760643_A_G:982,0,8452:54760643	5	0	2	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|1:206,38:244:99:0|1:54760643_A_G:976,0,8536:54760643	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|1:208,38:246:99:0|1:54760643_A_G:969,0,8619:54760643	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|1:188,38:226:99:0|1:54760643_A_G:1030,0,7780:54760643	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|1:188,38:226:99:0|1:54760643_A_G:1030,0,7759:54760643	3	0	4	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|1:139,11:150:43:0|1:54804898_C_G:43,0,5747:54804898	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	0/1:142,21:163:99:.:.:434,0,4021:.	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|1:146,21:167:99:0|1:54804956_C_G:442,0,6047:54804956	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|1:146,21:167:99:0|1:54804956_C_G:442,0,6067:54804956	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|1:142,22:164:99:0|1:54804956_C_G:496,0,5869:54804956	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|1:141,22:163:99:0|1:54804956_C_G:499,0,5827:54804956	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|1:143,32:175:99:0|1:54805010_A_G:913,0,5906:54805010	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|1:144,32:176:99:0|1:54805010_A_G:910,0,5950:54805010	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|1:143,38:181:99:0|1:54805010_A_G:1152,0,5870:54805010	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|1:141,46:187:99:0|1:54805010_A_G:1377,0,5694:54805010	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	0/1:133,50:183:99:.:.:1322,0,3600:.	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|1:143,31:174:99:0|1:54805940_TCTC_T:871,0,5911:54805940	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|1:148,36:184:99:0|1:54805940_TCTC_T:1066,0,6106:54805940	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|1:160,42:202:99:0|1:54805940_TCTC_T:1282,0,6592:54805940	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|1:173,52:225:99:0|1:54805940_TCTC_T:1618,0,7087:54805940	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|1:190,84:274:99:0|1:54806034_C_A:2935,0,7665:54806034	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|1:192,84:276:99:0|1:54806034_C_A:2929,0,7749:54806034	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|1:203,78:281:99:0|1:54806034_C_A:2664,0,8289:54806034	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|1:210,73:283:99:0|1:54806034_C_A:2433,0,8598:54806034	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|1:210,71:281:99:0|1:54806034_C_A:2349,0,8604:54806034	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|1:216,71:287:99:0|1:54806034_C_A:2331,0,8856:54806034	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|1:220,63:283:99:0|1:54806034_C_A:1983,0,9048:54806034	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|1:222,63:285:99:0|1:54806034_C_A:1977,0,9132:54806034	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|1:200,76:276:99:0|1:54808838_C_T:2587,0,8081:54808838	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|1:209,89:298:99:0|1:54808838_C_T:3108,0,8467:54808838	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|1:208,90:298:99:0|1:54808838_C_T:3153,0,8422:54808838	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	0/1:212,97:309:99:3397,0,5330	3	0	4	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|1:176,45:221:99:0|1:54855625_A_T:1360,0,7255:54855625	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|1:181,43:224:99:0|1:54855625_A_T:1261,0,7386:54855625	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|1:192,20:212:99:0|1:54855666_CAG_C:241,0,7976:54855666	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|1:192,20:212:99:0|1:54855666_CAG_C:241,0,7976:54855666	4	0	3	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	0/1:279,26:305:99:256,0,6837	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|1:281,26:307:99:0|1:54859096_TGG_T:246,0,11680:54859096	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|1:281,26:307:99:0|1:54859096_TGG_T:246,0,11680:54859096	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	0/1:252,25:277:99:295,0,6298	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|1:108,65:173:99:0|1:54865794_T_C:2404,0,4339:54865794	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|1:114,63:177:99:0|1:54865794_T_C:2302,0,4597:54865794	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|1:120,61:181:99:0|1:54865794_T_C:2200,0,4855:54865794	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|1:121,63:184:99:0|1:54865794_T_C:2281,0,4891:54865794	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|1:117,63:180:99:0|1:54865794_T_C:2293,0,4723:54865794	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|1:119,57:176:99:0|1:54865794_T_C:2035,0,4825:54865794	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|1:100,49:149:99:0|1:54865794_T_C:1756,0,4051:54865794	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|1:100,49:149:99:0|1:54865794_T_C:1753,0,4049:54865794	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|1:101,48:149:99:0|1:54865794_T_C:1708,0,4013:54865794	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|1:134,53:187:99:0|1:54866416_T_C:1822,0,5467:54866416	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	0/1:264,31:295:99:106,0,7307	4	0	3	0
chr19	55311980	55311980	G	A	exonic	BRSK1	.	nonsynonymous SNV	BRSK1:NM_032430:exon19:c.G2249A:p.R750H	.	443	1078	1	0	0	1	0.000463607	.	.	.	2430729	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.053	0.377026085933	7.9e-05	0.000199681	0.0002	0	0	0	0	3.488e-05	0	0.0011	8.41e-05	13	154602	rs370352134	5.428e-05	5.721e-05	3.54e-05	7.344e-05	0.0005	4.375e-05	4.012e-05	0.0004	0.0003	0	0	0	3.246e-05	0	0	2.403e-05	7.967e-05	0.0005	2.774e-05	2.721e-05	2.702e-05	2.85e-05	0.0005	8.48e-06	5.37e-06	8.49e-05	3.537e-05	0	0	0	0	0	0	0	3.032e-05	0	0.0005	0.109	0.38863	T	0.13	0.37589	T	0.022	0.18677	B	0.004	0.10090	B	0.000048	0.53742	D	0.072732	0.716165	0.33569	D	1.355	0.33814	L	-0.64	0.72125	T	-0.68	0.23808	N	0.2	0.22098	-0.7993	0.55185	T	0.162	0.49781	T	10	0.049928784	0.04651	T	0.377026	0.92882	D	0.053	0.14996	.	.	0.750595526317	0.74834	0.1784394873065903	0.17762	1.67395037752	0.89896	0.743869900703	0.73542	T	0.06835	0.33436	T	-0.30936	0.07805	T	-0.314558	0.43169	T	0.12172433041351	0.14597	T	0.781422	0.41649	T	0.087179855	0.20291	0.05995988	0.11339	0.087179855	0.20290	0.05995988	0.11338	-4.192	0.26635	T	.	.	0.087	0.12607	B	.;.;.	.;.;.	3.619693	0.51223	23.1	0.99806136462101736	0.89085	0.81931	0.41240	D	AEFDBI	0.422897	0.48871	N	-0.323310224462339	0.28266	1.557574	-0.129854469885044	0.34193	1.96413	0.0970807444733225	0.16270	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.567892	0.33627	0	.	.	4.99	3.95	0.44952	2.340000	0.43631	7.011000	0.57231	0.663000	0.56723	1.000000	0.71638	1.000000	0.68203	0.830000	0.39126	0.0839:0.0:0.9161:0.0	12.464	0.55088	988	0.01987	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	321.27	25	chr19	55311980	.	G	A	321.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.245;DP=187;ExcessHet=0;FS=1.569;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.85;ReadPosRankSum=-0.466;SOR=1.112	GT:AD:DP:GQ:PL	0/1:11,14:25:99:331,0,299	5	0	1	1
chr19	55818171	55818171	C	T	exonic	NLRP11	.	nonsynonymous SNV	NLRP11:NM_001385451:exon4:c.G4A:p.A2T,NLRP11:NM_001385453:exon4:c.G4A:p.A2T,NLRP11:NM_145007:exon4:c.G4A:p.A2T	.	429	1090	3	0	0	3	0.00137426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.222	0.01873474908	.	0.000599042	0.0002	0	0.0002	0	0	0	0	0.0013	0.0001682	26	154602	rs566488800	6.105e-05	6.156e-05	3.41e-05	8.833e-05	0.0009	5.042e-05	4.685e-05	0.0007	0.0006	0	0	0	0	0	0.0003	9.017e-06	4.978e-05	0.0009	5.255e-05	5.249e-05	5.141e-05	5.374e-05	0.0010	2.556e-05	1.829e-05	0.0004	0.0003	0	0	0	0	0	0	0	4.41e-05	0	0.0010	.	.	.	0.0	0.92824	D	0.993	0.65571	D	0.869	0.61749	P	.	.	.	.	0.950218	0.37686	D	1.575	0.39704	L	-1.2	0.79072	T	.	.	.	0.171	0.27316	-0.6407	0.63116	T	0.422	0.76690	T	9	0.02795887	0.00934	T	0.018735	0.40901	T	.	.	0.167	0.07186	0.825536192724	0.82389	0.09012925850994156	0.08945	.	.	0.438958376646	0.30435	T	0.024345	0.18415	T	-0.363428	0.03939	T	-0.351164	0.39072	T	0.945378720760345	0.62250	D	0.478952	0.14445	T	0.09242355	0.21682	0.1283226	0.30875	0.09242355	0.21682	0.1283226	0.30874	-5.234	0.39285	T	.	.	0.267	0.50166	B	.;.	.;.	2.394122	0.30746	18.53	0.99675520107500915	0.78912	0.03964	0.09371	N	AEFBI	0.024680	0.01567	N	-0.152704631216036	0.35120	2.01323	-0.350961712440579	0.26479	1.462842	0.101423438254297	0.16377	0.487112	0.14033	0	0.480063	0.06835	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.56	1.5	0.22029	0.136000	0.15794	-0.136000	0.11567	0.580000	0.29708	0.640000	0.28085	0.317000	0.24303	0.040000	0.14268	0.0:0.8341:0.0:0.1659	5.332	0.15242	792	0.45996	.;DAPIN 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	704.53	47	chr19	55818171	.	C	T	704.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.514;DP=229;ExcessHet=0;FS=1.15;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.99;ReadPosRankSum=0.385;SOR=0.438	GT:AD:DP:GQ:PL	0/1:21,26:47:99:715,0,499	6	0	1	0
chr19	57474334	57474334	C	A	exonic	ZNF772	.	nonsynonymous SNV	ZNF772:NM_001330613:exon3:c.G74T:p.G25V,ZNF772:NM_001144068:exon4:c.G287T:p.G96V,ZNF772:NM_001024596:exon5:c.G410T:p.G137V	.	428	1064	29	1	0	31	0.0143585	.	.	.	2815433	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.014	.	0.0065	0.00179712	0.0052	0.0012	0.0042	0	0.0005	0.0080	0.0121	0.0016	0.0051552	797	154602	rs149559142	0.0056	0.0056	0.0056	0.0057	0.0479	0.0055	0.0055	0.0432	0.0414	0.0016	0.0052	0.0325	0	0.0002	0.0479	0.0056	0.0078	0.0018	0.0049	0.0049	0.0051	0.0047	0.0066	0.0046	0.0045	0.0061	0.0059	0.0013	0	0.0061	0.0314	0	0.0004	0.0442	0.0066	0.0090	0.0017	0.082	0.42783	T	0.1	0.43913	T	0.015	0.17086	B	0.006	0.12133	B	.	.	.	.	0.999999	0.08975	N	0.91	0.23283	L	3.4	0.06445	T	-2.55	0.75297	D	0.075	0.07535	-0.9246	0.44915	T	0.007	0.02282	T	9	0.003584683	0.00065	T	.	.	.	0.014	0.01968	.	.	0.242825505644	0.23883	0.06286079249604214	0.06225	0.265364884536	0.29093	0.231391102076	0.02073	T	0.082708	0.36889	T	-0.692122	0.00041	T	-0.762956	0.03008	T	0.00628874385665996	0.00070	T	0.00682563	0.00163	T	0.053275492	0.10058	0.0621461	0.12114	0.053275492	0.10058	0.0621461	0.12114	-4.803	0.41388	T	.	.	0.086	0.16538	B	.;.;.	.;.;.	-0.622206	0.01512	0.096	0.38261841953168846	0.02570	0.08835	0.14704	N	AEFBCI	0.082553	0.16716	N	-1.8198645664141	0.00498	0.02145112	-1.91443553567497	0.00458	0.02028973	0.999532729199548	0.40238	0.651	0.46895	0	0.708844	0.79440	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	3.99	-7.18	0.01354	-1.430000	0.02541	.	.	-1.832000	0.00589	0.000000	0.06391	.	.	0.000000	0.00833	0.3455:0.2572:0.1076:0.2898	0.653	0.00777	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.034778	0.020202	0.046196	0.064706	0.050000	0.025862	0.015244	0.003788	0.07143	561.83	53	chr19	57474334	.	C	A	561.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.964;DP=262;ExcessHet=0;FS=5.964;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.6;ReadPosRankSum=-0.009;SOR=1.628	GT:AD:DP:GQ:PL	0/1:31,22:53:99:572,0,944	6	0	1	0
chr19	57538709	57538709	C	T	exonic	ZNF549	.	nonsynonymous SNV	ZNF549:NM_153263:exon3:c.C1666T:p.R556C,ZNF549:NM_001199295:exon4:c.C1705T:p.R569C	.	.	.	.	.	.	.	.	.	.	.	2678997	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.026	0.00189000408599	7.7e-05	0.000199681	4.121e-05	9.647e-05	0	0	0	5.996e-05	0	0	4.53e-05	7	154602	rs180734719	2.531e-05	2.531e-05	2.45e-05	2.613e-05	0.0002	1.868e-05	1.631e-05	9.751e-05	6.951e-05	0.0002	2.236e-05	0	0	0	0	1.978e-05	6.623e-05	3.478e-05	9.854e-05	9.844e-05	0.0001	6.717e-05	0.0002	6.005e-05	4.879e-05	0.0001	8.437e-05	0.0002	0	0	0	0.0002	0	0	7.351e-05	0	0	0.014	0.53172	D	0.026	0.57104	D	0.615	0.73220	P	0.163	0.43987	B	.	.	.	.	1	0.08975	N	2.285	0.65182	M	2.37	0.15964	T	-3.01	0.62518	D	0.216	0.25622	-1.1185	0.02428	T	0.027	0.11441	T	9	0.07612482	0.11853	T	0.00189	0.03325	T	0.026	0.05648	.	.	0.210429274316	0.20668	0.0634963257365238	0.06288	0.0864432078013	0.09759	0.279414474964	0.07411	T	0.076178	0.35356	T	-0.507371	0.00520	T	-0.612546	0.11779	T	0.294086307287216	0.24760	T	0.121488	0.00967	T	0.10536222	0.24911	0.09287628	0.21909	0.10536222	0.24911	0.09287628	0.21909	-7.61	0.58381	D	.	.	0.257	0.49196	B	.;.	.;.	2.694656	0.35184	19.83	0.94310853138262829	0.24628	0.02347	0.06701	N	AEFBHCI	0.031388	0.03350	N	-1.05558435458837	0.07478	0.3475392	-1.27280485247672	0.04802	0.2273687	0.529056243878097	0.21160	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	2.5	-5.0	0.02777	0.274000	0.18443	.	.	-0.242000	0.07441	0.000000	0.06391	0.000000	0.08366	0.456000	0.28029	0.4249:0.2806:0.0:0.2945	3.968	0.08934	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	.	.	.	.	.	.	.	.	0.07143	551.49	52	chr19	57538709	.	C	T	551.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.05;DP=232;ExcessHet=0;FS=1.079;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.61;ReadPosRankSum=1.13;SOR=0.478	GT:AD:DP:GQ:PL	0/1:29,23:52:99:562,0,708	6	0	1	0
chr19	57875137	57875137	C	G	exonic	ZNF814	.	nonsynonymous SNV	ZNF814:NM_001144989:exon3:c.G253C:p.G85R	.	451	1066	4	1	0	6	0.00280636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.00152503973671	.	0.000399361	0.0009	0	0.0011	0	0	0.0014	0.0051	0	0.0001921	5	26028	rs575379804	0.0004	0.0004	0.0004	0.0004	0.0043	0.0004	0.0003	0.0029	0.0024	0.0001	0.0005	0.0023	0	0	0.0043	0.0004	0.0006	0.0001	0.0005	0.0005	0.0004	0.0005	0.0013	0.0004	0.0003	0.0008	0.0007	7.308e-05	0	0.0013	0.0017	0	0	0.0103	0.0005	0.0010	0.0002	0.588	0.05844	T	0.264	0.50514	T	0.975	0.58077	D	0.831	0.59664	P	.	.	.	.	1	0.08975	N	1.73	0.44655	L	3.2	0.07236	T	-2.77	0.58733	D	0.164	0.27435	-1.0176	0.24495	T	0.025	0.10821	T	9	0.012584329	0.00270	T	0.001525	0.02369	T	0.074	0.21613	.	.	0.156986980423	0.15292	0.010693704017999513	0.01030	0.214983796661	0.24033	0.271185457706	0.06296	T	0.264912	0.63673	T	-0.570327	0.00220	T	-0.693978	0.06161	T	0.0892104680585284	0.11123	T	0.663934	0.27277	T	0.038817205	0.05243	0.08079541	0.18306	0.038817205	0.05243	0.08079541	0.18306	-5.536	0.42204	T	.	.	0.095	0.33039	B	.;.	.;.	1.809689	0.23000	15.85	0.91028236354299485	0.20278	0.03616	0.08851	N	AEFBI	0.071349	0.14201	N	-0.643592863881751	0.17647	0.9098487	-0.901669130890979	0.12055	0.6178824	7.46895565755475E-5	0.04552	0.732398	0.92422	0	0.743671	0.97443	0	0.702456	0.68683	0	0.683762	0.67416	0	.	.	2.56	-1.31	0.08749	-0.280000	0.08500	.	.	-0.269000	0.06763	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.232:0.3916:0.2277:0.1488	1.059	0.01496	982	0.03397	Krueppel-associated box;Krueppel-associated box	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006271	0.000000	0.011050	0.013274	0.000000	0.000000	0.000000	0.000000	0.08333	302.27	24	chr19	57875137	.	C	G	302.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.411;DP=184;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=35.69;MQRankSum=0.138;QD=12.59;ReadPosRankSum=0;SOR=0.818	GT:AD:DP:GQ:PL	0/1:13,11:24:99:312,0,384	5	0	1	1
chr20	3045699	3045699	A	C	exonic	GNRH2	.	nonsynonymous SNV	GNRH2:NM_001310220:exon4:c.A326C:p.E109A,GNRH2:NM_001501:exon4:c.A326C:p.E109A,GNRH2:NM_178331:exon4:c.A305C:p.E102A,GNRH2:NM_178332:exon4:c.A302C:p.E101A	.	397	809	252	50	14	366	0.17868	.	.	.	2339291	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.063	0.0138574626857	.	0.000798722	0.0001	0	0	0.0010	0	4.743e-05	0	0.0001	0.0001921	5	26028	rs544846287	5.123e-05	5.205e-05	3.998e-05	6.257e-05	0.0006	4.175e-05	3.823e-05	0.0004	0.0003	0	0	0	0.0006	0	0.0002	3.186e-05	0.0001	9.37e-05	7.254e-05	7.228e-05	7.735e-05	6.751e-05	0.0012	3.985e-05	3.138e-05	0.0005	0.0004	0	0	0	0	0.0012	0	0	5.895e-05	0	0.0002	0.195	0.20759	T	0.31	0.19721	T	0.458	0.39147	P	0.292	0.47228	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	0.63	0.53302	T	-0.17	0.11008	N	0.072	0.06454	-1.0228	0.22802	T	0.073	0.29547	T	9	0.008035719	0.00182	T	0.013857	0.33577	T	0.063	0.18251	0.095	0.01241	0.340510301474	0.33666	0.019816559905803922	0.01934	0.273673405607	0.29866	0.443898946047	0.31109	T	0.031986	0.22285	T	-0.416888	0.01791	T	-0.437728	0.29063	T	0.0721061921995052	0.08943	T	0.349665	0.07767	T	0.033950143	0.03716	0.046167992	0.06374	0.033950143	0.03716	0.046167992	0.06373	-2.039	0.03759	T	.	.	0.095	0.17317	B	.;.;.;.	.;.;.;.	0.532157	0.09008	5.790	0.93995843531883583	0.24087	0.00435	0.02127	N	ALL	0.017947	0.00507	N	-0.983773490452446	0.08949	0.4216369	-1.12239259239604	0.07274	0.3531867	0.999999990720754	0.74766	0.024636	0.00146	3	0.218748	0.04544	0	0.166054	0.03999	2	0.56214	0.19341	0	.	.	3.33	-1.95	0.07135	-1.042000	0.03649	-0.399000	0.09423	-0.106000	0.15538	0.000000	0.06391	0.000000	0.08366	0.038000	0.14061	0.3505:0.3748:0.1611:0.1136	1.881	0.03033	840	0.37365	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001008	0.000000	0.000000	0.000000	0.000000	0.000000	0.003067	0.003788	0.07143	519.53	46	chr20	3045699	.	A	C	519.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.432;DP=223;ExcessHet=0;FS=2.55;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.29;ReadPosRankSum=-0.077;SOR=0.805	GT:AD:DP:GQ:PL	0/1:23,23:46:99:530,0,553	6	0	1	0
chr20	3803192	3803192	G	C	exonic	CDC25B	.	nonsynonymous SNV	CDC25B:NM_001287524:exon9:c.G766C:p.G256R,CDC25B:NM_001287518:exon12:c.G1069C:p.G357R,CDC25B:NM_001287522:exon12:c.G883C:p.G295R,CDC25B:NM_021872:exon12:c.G1219C:p.G407R,CDC25B:NM_001287516:exon13:c.G1150C:p.G384R,CDC25B:NM_001287517:exon13:c.G1108C:p.G370R,CDC25B:NM_001287519:exon13:c.G1006C:p.G336R,CDC25B:NM_001287520:exon13:c.G1006C:p.G336R,CDC25B:NM_004358:exon13:c.G1300C:p.G434R,CDC25B:NM_021873:exon13:c.G1342C:p.G448R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.774	0.123202022054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0011	0.0007	0.0006	0.0008	0.0006	0.0006	0.0007	0.0007	0.0006	0	0.0002	7.607e-05	0	0.0002	0.0008	0.0004	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.085	0.87354	M	1.81	0.25182	T	-7.58	0.95276	D	0.931	0.98268	-0.6717	0.61752	T	0.200	0.55640	T	10	0.98157537	0.98189	D	0.123202	0.80433	D	0.774	0.92419	0.92	0.98568	0.736929849786	0.73457	0.9132364924811667	0.91297	2.14713465814	0.95289	0.696103453636	0.66582	T	0.201973	0.83660	T	0.280949	0.81396	D	0.165788	0.81157	D	0.999002754688263	0.95858	D	0.989968	0.96869	D	0.92810935	0.94047	0.8602535	0.92196	0.92810935	0.94048	0.8602535	0.92197	-11.248	0.81537	D	.	.	0.994	0.95995	P	.;.;.;.;.	.;.;.;.;.	5.603180	0.92472	32	0.99900572155913103	0.97275	0.97177	0.73143	D	AEFGBCI	0.864053	0.78274	D	0.851518238386656	0.89196	9.872593	0.791774268680612	0.89217	9.884684	0.999999999996727	0.74766	0.706548	0.73137	0	0.696144	0.67643	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.24	5.24	0.72863	7.420000	0.79394	11.730000	0.94979	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.879000	0.42020	0.0:0.0:1.0:0.0	16.698	0.85199	809	0.43032	Rhodanese-like domain|Rhodanese-like domain|Rhodanese-like domain;Rhodanese-like domain|Rhodanese-like domain|Rhodanese-like domain;Rhodanese-like domain|Rhodanese-like domain|Rhodanese-like domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4	869.31	70	chr20	3803192	.	G	C	869.31	.	AC=4;AF=0.4;AN=10;BaseQRankSum=-1.474;DP=561;ExcessHet=3.1439;FS=207.23;MLEAC=5;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.22;ReadPosRankSum=1.8;SOR=10.505	GT:AD:DP:GQ:PL	0/1:36,33:70:99:394,0,494	1	0	4	2
chr20	17615937	17615937	C	T	exonic	RRBP1	.	nonsynonymous SNV	RRBP1:NM_001365613:exon22:c.G3940A:p.E1314K,RRBP1:NM_004587:exon22:c.G2641A:p.E881K,RRBP1:NM_001042576:exon23:c.G2641A:p.E881K	.	422	1098	2	0	0	2	0.000909918	.	.	.	728549	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.244	.	0.0035	0.00119808	0.0022	0.0008	0.0005	0	0.0006	0.0033	0.0022	0.0013	0.0022057	341	154602	rs61737094	0.0034	0.0034	0.0033	0.0034	0.0037	0.0033	0.0032	0.0036	0.0036	0.0006	0.0014	0.0088	0	0.0013	0.0019	0.0037	0.0040	0.0019	0.0023	0.0023	0.0024	0.0023	0.0035	0.0021	0.0021	0.0032	0.0030	0.0006	0.0011	0.0027	0.0081	0	0.0003	0.0068	0.0035	0.0014	0.0023	0.004	0.65419	D	0.007	0.69154	D	0.999	0.77913	D	0.98	0.74843	D	0.468748	0.12304	N	0.647706	0.999924	0.51308	D	2.67	0.78151	M	1.37	0.34253	T	-2.33	0.57110	N	0.552	0.58798	-0.8385	0.52746	T	0.165	0.50193	T	10	0.006175071	0.00139	T	.	.	.	0.244	0.55061	.	.	0.561829309373	0.55845	0.3847270083835028	0.38387	0.29399669087	0.31818	0.573198795319	0.49129	T	0.212436	0.57349	T	-0.245814	0.14617	T	-0.125331	0.61362	T	0.0302078345630977	0.02022	T	0.966803	0.87909	D	0.13443677	0.31235	0.15530151	0.36410	0.13443677	0.31235	0.15530151	0.36409	-5.261	0.43596	T	.	.	0.117	0.34427	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.815741	0.55062	23.6	0.99847007873253357	0.92663	0.94878	0.62643	D	AEFDBHCIJ	0.671996	0.63855	D	0.547150339565503	0.69908	5.424436	0.530237805322109	0.70034	5.446262	0.999999999237497	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.17	5.17	0.70848	2.057000	0.40991	3.345000	0.37739	0.599000	0.40250	0.953000	0.33222	0.998000	0.33993	0.409000	0.26983	0.0:1.0:0.0:0.0	15.887	0.79041	878	0.29785	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004032	0.005051	0.006793	0.005848	0.000000	0.008621	0.000000	0.000000	0.07143	457.49	50	chr20	17615937	.	C	T	457.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.976;DP=229;ExcessHet=0;FS=1.065;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.15;ReadPosRankSum=1.59;SOR=0.88	GT:AD:DP:GQ:PL	0/1:27,23:50:99:468,0,611	6	0	1	0
chr20	21705921	21705921	T	C	exonic	PAX1	.	nonsynonymous SNV	PAX1:NM_001257096:exon1:c.T209C:p.L70P,PAX1:NM_006192:exon1:c.T209C:p.L70P	.	426	1090	5	1	0	7	0.00320073	.	.	.	1423351	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.468	0.956588092515	.	.	.	.	.	.	.	.	.	.	.	.	.	rs940094103	0.0002	0.0002	0.0002	0.0002	0.0008	0.0002	0.0002	0.0002	0.0002	3.846e-05	3.97e-05	4.52e-05	0	0	0.0008	0.0002	0.0002	1.41e-05	8.602e-05	8.546e-05	0.0001	6.774e-05	0.0002	4.99e-05	3.988e-05	0.0001	8.909e-05	0	0	0	0	0	0	0	0.0002	0	0	0.013	0.53900	D	0.03	0.54159	D	0.94	0.52768	P	0.462	0.46509	P	0.033802	0.01777	U	417.648000	0.996939	0.43515	D	0.975	0.24501	L	-4.44	0.97515	D	-0.7	0.19933	N	0.443	0.49237	0.349	0.88320	D	0.806	0.93446	D	10	0.46564645	0.59553	T	0.956588	0.99710	D	0.468	0.76289	0.232	0.16005	0.808538727171	0.80674	0.34999617027531577	0.34913	2.43300071254	0.97277	0.889742076397	0.95228	D	0.130192	0.45893	T	-0.0177838	0.49168	T	-0.00364263	0.70101	D	0.101468140719553	0.12518	T	0.438156	0.12052	T	0.1891644	0.40447	0.24258134	0.49682	0.1891644	0.40446	0.24258134	0.49681	-3.12	0.11527	T	0.09921965012675256	0.07183	0.070	0.03625	B	.;.	.;.	3.121722	0.42153	21.5	0.98165785844297748	0.38814	0.75882	0.37177	D	AEFDBHCI	0.180983	0.30830	N	-0.0554470039941605	0.39360	2.320	-0.0591354361419194	0.37098	2.167591	0.986475584795664	0.31070	0.59774	0.34471	0	0.59043	0.45803	0	0.608004	0.38603	0	0.63947	0.58350	0	.	.	4.1	2.83	0.32150	1.328000	0.33364	1.130000	0.24318	0.478000	0.22058	0.987000	0.36337	0.986000	0.30841	0.454000	0.27984	0.1864:0.0:0.1667:0.6469	4.943	0.13327	840	0.37365	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	123.83	10	chr20	21705921	.	T	C	123.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.19;DP=81;ExcessHet=0;FS=2.43;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.38;ReadPosRankSum=-0.405;SOR=1.609	GT:AD:DP:GQ:PL	0/1:6,4:10:99:134,0,144	6	0	1	0
chr20	21714718	21714718	C	T	exonic	PAX1	.	nonsynonymous SNV	PAX1:NM_006192:exon5:c.C1520T:p.P507L	.	395	1077	48	2	0	52	0.0235721	.	.	.	364141	not_provided|PAX1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.182	.	0.0018	0.00579073	0.0053	0.0011	0.0011	0.0002	0.0039	0.0041	0.0062	0.0186	0.0045342	701	154602	rs138641387	0.0039	0.0039	0.0034	0.0043	0.0163	0.0038	0.0037	0.0156	0.0153	0.0010	0.0017	0.0034	2.52e-05	0.0033	0.0142	0.0032	0.0045	0.0163	0.0030	0.0030	0.0026	0.0034	0.0176	0.0028	0.0027	0.0146	0.0135	0.0008	0	0.0024	0.0043	0.0002	0.0021	0	0.0038	0.0033	0.0176	0.0	0.91255	D	0.022	0.57587	D	0.0	0.02946	B	0.001	0.04355	B	0.011199	0.01299	U	7.178110	1	0.08975	N	0.345	0.11182	N	-4.44	0.97515	D	0.07	0.06138	N	0.132	0.12770	-0.0346	0.81534	T	0.726	0.90629	D	10	0.00380221	0.00071	T	.	.	.	0.182	0.45420	.	.	0.102598925029	0.09809	0.11145458672258	0.11074	0.242934635108	0.26798	0.444064676762	0.31132	T	0.096141	0.39765	T	-0.279528	0.10718	T	-0.160673	0.58292	T	0.0399463750610996	0.03680	T	0.463454	0.13490	T	0.04237404	0.06414	0.066340074	0.13575	0.030930376	0.02842	0.05828784	0.10744	-4.016	0.24042	T	.	.	0.107	0.19998	B	.	.	0.544321	0.09130	5.912	0.99238866093083677	0.56469	0.13365	0.17815	N	AEFDBHCI	0.042710	0.06661	N	-1.11705786576021	0.06339	0.2915517	-1.19277271834668	0.06030	0.2890348	0.489217165147139	0.20848	0.437478	0.07067	0	0.563428	0.19063	0	0.606814	0.37721	0	0.530356	0.10902	0	.	.	3.15	-2.12	0.06766	0.158000	0.16239	0.191000	0.15744	-0.189000	0.09497	0.000000	0.06391	0.001000	0.17328	0.008000	0.08271	0.1724:0.2562:0.3389:0.2326	0.952	0.01292	855	0.34697	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.013105	0.005102	0.004076	0.008772	0.000000	0.008621	0.012270	0.030303	0.07143	775.53	69	chr20	21714718	.	C	T	775.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.554;DP=243;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.24;ReadPosRankSum=0.018;SOR=0.654	GT:AD:DP:GQ:PL	0/1:36,33:69:99:786,0,924	6	0	1	0
chr20	33226957	33226957	G	T	exonic	BPIFA3	.	nonsynonymous SNV	BPIFA3:NM_001042439:exon5:c.G541T:p.G181W,BPIFA3:NM_178466:exon6:c.G649T:p.G217W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	.	.	0.00599042	0.0025	9.61e-05	8.637e-05	0.0333	0	0	0.0011	0.0005	0.0022703	351	154602	rs114904196	0.0008	0.0008	0.0008	0.0008	0.0277	0.0008	0.0008	0.0263	0.0258	5.974e-05	6.708e-05	0	0.0277	0	0.0002	6.295e-06	0.0015	0.0004	0.0012	0.0012	0.0011	0.0014	0.0325	0.0011	0.0010	0.0285	0.0269	0.0002	0	0.0003	0	0.0325	0	0	4.411e-05	0.0005	0.0006	0.024	0.48186	D	0.014	0.62352	D	0.993	0.65571	D	0.924	0.65913	D	0.004100	0.34125	N	0.133808	0.995994	0.23144	N	0.895	0.22405	L	3.38	0.05778	T	-2.61	0.57275	D	0.46	0.49692	-0.9973	0.30673	T	0.016	0.06329	T	10	0.008899063	0.00202	T	.	.	.	0.095	0.27398	0.461	0.52916	0.242825505644	0.23883	0.26272911111029706	0.26185	0.165982445081	0.18730	0.370134472847	0.20851	T	0.005733	0.05178	T	-0.554122	0.00275	T	-0.540871	0.18211	T	0.088155300765053	0.10996	T	0.723528	0.33695	T	0.15156545	0.34450	0.13298362	0.31899	0.15156545	0.34449	0.13298362	0.31898	-6.384	0.51000	T	.	.	0.261	0.54682	B	.;.	.;.	2.675808	0.34894	19.75	0.98942334132827403	0.48959	0.23792	0.22190	N	AEFBI	0.112536	0.22240	N	-0.206146925181634	0.32881	1.85931	-0.291819674180927	0.28367	1.581153	1.51937801905069E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.02	-1.44	0.08391	0.111000	0.15292	-0.146000	0.11468	-0.110000	0.15115	0.977000	0.34929	0.003000	0.18671	0.263000	0.23594	0.3692:0.3807:0.2501:0.0	4.174	0.09805	83	0.96533	Lipid-binding serum glycoprotein, 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	553.46	49	chr20	33226957	.	G	T	553.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.04;DP=231;ExcessHet=0;FS=1.097;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.3;ReadPosRankSum=-0.641;SOR=0.518	GT:AD:DP:GQ:PL	0/1:26,23:49:99:564,0,611	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	0/1:45,21:66:22:22,0,757	0	0	6	1
chr20	34987254	34987254	C	T	exonic	MYH7B	.	nonsynonymous SNV	MYH7B:NM_020884:exon16:c.C1240T:p.R414W	.	194	1326	2	0	0	2	0.00075358	.	.	.	1576504	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.712	0.0971622850556	0.0002	0.000399361	0.0005	0	0	0.0071	0	3.001e-05	0.0011	6.063e-05	0.0004334	67	154602	rs180819033	0.0001	0.0001	0.0001	0.0001	0.0036	0.0001	0.0001	0.0031	0.0029	0	2.236e-05	0	0.0036	0	0	1.889e-05	0.0002	5.802e-05	0.0001	0.0001	0.0001	0.0001	0.0031	8.17e-05	6.726e-05	0.0019	0.0016	0	0	6.539e-05	0	0.0031	0	0	2.94e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.005089	0.33107	N	0.000000	0.999973	0.53665	D	.	.	.	-2.32	0.87830	D	-6.72	0.92561	D	0.762	0.76019	0.937	0.96204	D	0.870	0.95674	D	10	0.026727319	0.00833	T	0.097162	0.76726	D	0.712	0.89741	.	.	0.710887551834	0.70836	0.4264663941452392	0.42563	0.662991453735	0.59004	0.890084862709	0.95271	D	.	.	.	-0.0998557	0.36447	T	0.0866774	0.76023	D	0.309234414912692	0.25383	T	0.929307	0.73951	D	0.21155992	0.43484	0.15646328	0.36630	0.21155992	0.43484	0.15646328	0.36629	-13.388	0.90898	D	.	.	0.503	0.64713	A	.;.	.;.	4.853986	0.79367	27.1	0.99915483778590131	0.98379	0.85582	0.44729	D	AEFGBCI	0.792098	0.72050	D	0.642196650394577	0.75866	6.382048	0.44382379253212	0.64322	4.684639	0.920639817180304	0.26640	0.403107	0.06075	0	0.514364	0.08380	0	0.578056	0.29568	0	0.645665	0.59343	0	.	.	3.53	2.54	0.29674	1.063000	0.30177	0.392000	0.17901	0.599000	0.40250	1.000000	0.71638	0.985000	0.30750	0.998000	0.85391	0.1742:0.8258:0.0:0.0	12.547	0.55552	626	0.65439	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1917.46	130	chr20	34987254	.	C	T	1917.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.962;DP=337;ExcessHet=0;FS=3.22;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.75;ReadPosRankSum=-0.564;SOR=0.502	GT:AD:DP:GQ:PL	0/1:53,77:130:99:1928,0,1115	6	0	1	0
chr20	41420810	41420810	T	A	exonic	CHD6	.	nonsynonymous SNV	CHD6:NM_032221:exon31:c.A5825T:p.H1942L	.	416	1042	62	2	0	66	0.0306977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.257	.	0.0048	0.00259585	0.0051	0.0008	0.0073	0	0.0006	0.0067	0.0143	0.0041	0.0048188	745	154602	rs140143834	0.0048	0.0048	0.0047	0.0049	0.0472	0.0047	0.0046	0.0426	0.0408	0.0022	0.0070	0.0213	2.519e-05	0.0007	0.0472	0.0044	0.0072	0.0040	0.0045	0.0045	0.0044	0.0046	0.0108	0.0042	0.0041	0.0094	0.0089	0.0013	0.0011	0.0108	0.0233	0	0.0003	0.0476	0.0048	0.0076	0.0046	0.011	0.55530	D	0.165	0.30926	T	0.001	0.07471	B	0.002	0.06944	B	0.002783	0.35935	N	0.195101	0.614582	0.30831	N	1.995	0.54099	M	-1.97	0.85173	D	-1.3	0.32590	N	0.592	0.61172	-0.5537	0.66646	T	0.344	0.70948	T	10	0.004806787	0.00102	T	.	.	.	0.257	0.56827	.	.	0.689785631623	0.68712	0.3750919250978012	0.37423	0.189597863758	0.21281	0.446506142616	0.31466	T	0.084022	0.37186	T	-0.282742	0.10380	T	-0.176165	0.56878	T	0.0114341680343454	0.00171	T	0.763224	0.38939	T	0.094280444	0.22162	0.08424599	0.19367	0.094280444	0.22162	0.08424599	0.19367	-2.681	0.07144	T	.	.	0.100	0.17275	B	.	.	2.888150	0.38240	20.7	0.95014432481411215	0.25991	0.90439	0.51616	D	AEFBI	0.097281	0.19624	N	-0.282613491382424	0.29820	1.657095	-0.144698206204059	0.33612	1.924544	0.35311860280928	0.19703	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.636168	0.56350	0	.	.	5.86	3.56	0.39892	0.728000	0.25682	4.390000	0.43210	0.665000	0.62972	0.905000	0.31549	1.000000	0.68203	0.914000	0.44937	0.1166:0.0:0.1688:0.7146	8.132	0.30193	922	0.19044	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.037764	0.040404	0.054348	0.040936	0.000000	0.051724	0.033537	0.003788	0.07143	737.63	75	chr20	41420810	.	T	A	737.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.018;DP=278;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.84;ReadPosRankSum=-0.541;SOR=0.65	GT:AD:DP:GQ:PL	0/1:43,32:75:99:748,0,1129	6	0	1	0
chr20	41533336	41533336	T	C	exonic	CHD6	.	nonsynonymous SNV	CHD6:NM_032221:exon3:c.A268G:p.T90A	.	395	1119	8	0	0	8	0.00356189	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.337	0.109301248615	.	.	4.129e-05	0	0	0	0	7.508e-05	0	0	3.88e-05	6	154602	rs763580626	4.857e-05	4.857e-05	5.445e-05	4.263e-05	6.115e-05	3.926e-05	3.604e-05	4.899e-05	4.484e-05	2.987e-05	0	0	0	0	0	6.115e-05	3.311e-05	0	5.259e-05	5.254e-05	3.856e-05	6.728e-05	0.0001	2.558e-05	1.831e-05	5.843e-05	4.24e-05	0	0	0	0	0	0	0	0.0001	0	0	0.012	0.91255	D	0.172	0.30241	T	0.972	0.60381	D	0.6	0.57058	P	0.000007	0.62929	D	0.000000	0.982637	0.42045	D	2.47	0.71715	M	-2.04	0.85703	D	-1.39	0.74742	N	0.389	0.44187	0.593	0.91811	D	0.802	0.93316	D	10	0.2736572	0.44916	T	0.109301	0.78620	D	0.337	0.65913	0.175	0.08135	0.80433381089	0.80250	0.13330614747516484	0.13254	0.112956299353	0.12750	0.572689533234	0.49058	T	0.071894	0.45194	T	-0.013633	0.49755	T	-0.0714555	0.65522	T	0.318955417413384	0.25779	T	0.842116	0.52486	T	0.13727409	0.31790	0.13645267	0.32643	0.13727409	0.31790	0.13645267	0.32642	-2.676	0.07602	T	.	.	0.067	0.42549	B	.;.;.	.;.;.	3.950391	0.57866	23.9	0.99812037524070207	0.89620	0.92069	0.54876	D	AEFBCI	0.493957	0.52996	N	0.391920440523159	0.60984	4.293621	0.455300991904059	0.65059	4.775941	0.999999992299102	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	5.63	5.63	0.86108	3.305000	0.51580	6.207000	0.54965	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	15.842	0.78630	902	0.24074	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1101.44	74	chr20	41533336	.	T	C	1101.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.333;DP=262;ExcessHet=0;FS=0.919;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.88;ReadPosRankSum=0.318;SOR=0.917	GT:AD:DP:GQ:PL	0/1:28,46:74:99:1112,0,673	6	0	1	0
chr20	45176080	45176080	G	A	exonic	PI3	.	nonsynonymous SNV	PI3:NM_002638:exon2:c.G299A:p.G100E	.	1	1519	2	0	0	2	0.000657895	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.228	0.0432849811362	.	0.000199681	0.0006	0	8.637e-05	0	0	1.498e-05	0.0011	0.0039	0.0004528	70	154602	rs553204293	0.0002	0.0002	0.0001	0.0003	0.0035	0.0002	0.0002	0.0031	0.0030	0	0	0	0	0	0.0009	9.892e-06	0.0003	0.0035	7.881e-05	7.873e-05	1.285e-05	0.0001	0.0023	4.495e-05	3.511e-05	0.0013	0.0010	0	0	0	0	0	0	0	1.47e-05	0	0.0023	0.005	0.63226	D	0.02	0.58613	D	1.0	0.90584	D	0.992	0.80445	D	0.097298	0.20034	N	0.365602	1	0.08975	N	2.775	0.80997	M	-0.79	0.73739	T	-6.62	0.92128	D	0.374	0.41557	-0.5516	0.66726	T	0.481	0.80165	T	10	0.026748508	0.00834	T	0.043285	0.60905	D	0.228	0.52768	0.662	0.79996	0.784031634265	0.78203	0.39781258960639987	0.39696	0.689936938036	0.60511	0.294099658728	0.09525	T	0.596149	0.86989	D	-0.334687	0.05765	T	-0.25437	0.49385	T	0.241775894286554	0.22501	T	0.676632	0.28519	T	0.549657	0.69937	0.32914883	0.58797	0.549657	0.69938	0.32914883	0.58797	-5.93	0.45690	T	.	.	0.303	0.53229	B	.	.	2.930036	0.38926	20.8	0.99476898920134627	0.66633	0.02126	0.06277	N	AEFDGBI	0.034623	0.04320	N	-0.0850470468430257	0.38048	2.222553	-0.341841172895877	0.26761	1.480339	0.999363875500136	0.39301	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.49	1.2	0.20181	0.205000	0.17154	0.282000	0.16777	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.465000	0.28230	0.2231:0.2046:0.5723:0.0	3.839	0.08416	894	0.26265	WAP-type 'four-disulfide core' domain|WAP-type 'four-disulfide core' domain|WAP-type 'four-disulfide core' domain|WAP-type 'four-disulfide core' domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.007576	0.07143	2155.44	200	chr20	45176080	.	G	A	2155.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.807;DP=520;ExcessHet=0;FS=4.037;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.78;ReadPosRankSum=-1.342;SOR=0.461	GT:AD:DP:GQ:PL	0/1:103,97:200:99:2166,0,2495	6	0	1	0
chr20	59892042	59892042	T	G	exonic	SYCP2	.	nonsynonymous SNV	SYCP2:NM_014258:exon24:c.A2312C:p.E771A	.	459	1049	11	3	0	17	0.00803783	.	.	.	2476868	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.004	0.0041464142265	0.0018	0.00359425	0.0028	0.0003	0.0020	0	0	0.0026	0.0033	0.0088	0.0026778	414	154602	rs117549957	0.0026	0.0026	0.0024	0.0029	0.0094	0.0026	0.0025	0.0080	0.0078	0.0004	0.0024	0.0073	0	5.639e-05	0.0094	0.0023	0.0033	0.0086	0.0021	0.0021	0.0021	0.0021	0.0052	0.0019	0.0018	0.0036	0.0031	0.0003	0	0.0030	0.0072	0	9.418e-05	0.0272	0.0028	0.0052	0.0052	0.725	0.04443	T	0.737	0.05036	T	0.006	0.13644	B	0.004	0.10090	B	0.707332	0.10043	N	0.876643	1	0.08975	N	0.69	0.16971	N	2.48	0.18248	T	-0.15	0.10833	N	0.069	0.06720	-0.9474	0.41414	T	0.013	0.05273	T	10	0.0046943426	0.00099	T	0.004146	0.09931	T	0.004	0.00165	.	.	0.043077524339	0.03247	0.15897107292305326	0.15818	0.0303572808084	0.03137	0.230584919453	0.02011	T	0.080479	0.36372	T	-0.653147	0.00069	T	-0.704721	0.05572	T	0.00172586463314303	0.00018	T	0.643236	0.25495	T	0.03463505	0.03925	0.031656172	0.01785	0.03463505	0.03924	0.031656172	0.01784	-4.121	0.25599	T	.	.	0.096	0.19438	B	.;.;.	.;.;.	0.149478	0.05419	1.894	0.32628396023178846	0.01901	0.03423	0.08551	N	AEFI	0.066263	0.12968	N	-1.26149894413797	0.04149	0.1867449	-1.2456061327886	0.05196	0.2470095	5.05074692332387E-5	0.03989	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.32	-0.432	0.11678	-0.564000	0.06027	0.080000	0.14378	-1.309000	0.01237	0.000000	0.06391	0.000000	0.08366	0.589000	0.31115	0.2797:0.4687:0.0:0.2516	3.956	0.08887	994	0.00715	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.017623	0.000000	0.020380	0.023392	0.050000	0.051724	0.012195	0.011364	0.07143	616.49	69	chr20	59892042	.	T	G	616.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.52;DP=246;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.93;ReadPosRankSum=-0.462;SOR=0.635	GT:AD:DP:GQ:PL	0/1:40,29:69:99:627,0,1163	6	0	1	0
chr20	59939439	59939439	C	T	exonic	PPP1R3D	.	nonsynonymous SNV	PPP1R3D:NM_006242:exon1:c.G493A:p.A165T	.	431	1071	19	1	0	21	0.00970874	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.0313602730276	0.0017	0.00359425	0.0029	0.0001	0.0020	0	0	0.0026	0.0025	0.0084	0.002445	378	154602	rs149736385	0.0026	0.0026	0.0024	0.0029	0.0092	0.0025	0.0025	0.0080	0.0078	0.0004	0.0024	0.0073	0	7.766e-05	0.0092	0.0023	0.0032	0.0085	0.0021	0.0021	0.0021	0.0021	0.0052	0.0019	0.0018	0.0036	0.0031	0.0003	0	0.0032	0.0072	0	9.411e-05	0.0272	0.0028	0.0057	0.0052	0.538	0.06847	T	0.565	0.08961	T	0.001	0.07471	B	0.001	0.04355	B	0.901394	0.07358	N	1.056550	0.735285	0.29789	N	1.175	0.29870	L	0.51	0.55439	T	-0.57	0.17210	N	0.063	0.03502	-1.0397	0.17404	T	0.047	0.19998	T	10	0.0023865998	0.00035	T	0.03136	0.53460	D	0.029	0.06676	.	.	0.48505662038	0.48136	0.18719301782112324	0.18637	0.783494048791	0.65400	0.42191067338	0.28099	T	0.011707	0.10405	T	-0.616636	0.00115	T	-0.652417	0.08785	T	0.00182093008429166	0.00019	T	0.474753	0.14169	T	0.050027553	0.08975	0.06288651	0.12375	0.050027553	0.08974	0.06288651	0.12375	-5.27	0.39645	T	.	.	0.079	0.07412	B	.	.	1.819671	0.23120	15.89	0.98549616485174141	0.42833	0.23289	0.22028	N	AEFDGBHCI	0.101186	0.20330	N	-1.00173789304803	0.08567	0.4022025	-0.948997271987702	0.10946	0.5546428	0.999999997774422	0.74766	0.455138	0.09556	0	0.405561	0.06353	1	0.503968	0.08637	0	0.56751	0.32155	0	.	.	5.16	-0.983	0.09738	0.156000	0.16200	1.588000	0.27514	0.597000	0.34315	0.029000	0.20367	0.999000	0.35428	0.979000	0.57723	0.3147:0.3622:0.0946:0.2285	1.585	0.02484	993	0.01300	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.016633	0.000000	0.017663	0.023392	0.050000	0.051724	0.012270	0.011364	0.07143	1215.46	89	chr20	59939439	.	C	T	1215.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.113;DP=271;ExcessHet=0;FS=0.807;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.66;ReadPosRankSum=0.667;SOR=0.539	GT:AD:DP:GQ:PL	0/1:41,48:89:99:1226,0,1039	6	0	1	0
chr20	62813277	62813277	A	0	exonic	OGFR	.	.	.	.	523	886	20	13	80	126	0.0253025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	172.64	11	chr20	62813277	.	A	*	172.64	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.406;DP=90;ExcessHet=0.4139;FS=0;MLEAC=1;MLEAF=0.083;MQ=41.75;MQRankSum=0.657;QD=6.39;ReadPosRankSum=-0.707;SOR=0.675	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:8,3:11:95:.:.:95,0,252:.	5	0	1	1
chr20	62813313	62813313	G	0	exonic	OGFR	.	.	.	.	901	501	16	13	91	133	0.0402299	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	85.47	11	chr20	62813313	.	G	*	85.47	.	AC=1;AF=0.125;AN=8;BaseQRankSum=0.173;DP=74;ExcessHet=0.5115;FS=0;MLEAC=1;MLEAF=0.125;MQ=40.98;MQRankSum=0;QD=3.42;ReadPosRankSum=0.625;SOR=0.602	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:8,3:11:95:.:.:95,0,252:.	3	0	1	3
chr20	63565251	63565251	C	T	exonic	HELZ2	.	nonsynonymous SNV	HELZ2:NM_033405:exon3:c.G1864A:p.V622M,HELZ2:NM_001037335:exon9:c.G3571A:p.V1191M	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.232	0.0660986575372	.	.	.	.	.	.	.	.	.	.	.	.	.	rs961369377	9.623e-06	1.163e-05	8.201e-06	1.106e-05	2.997e-05	5.58e-06	4.37e-06	3.1e-06	2.24e-06	2.997e-05	2.272e-05	0	0	0	0	7.209e-06	6.659e-05	0	3.284e-05	3.283e-05	3.852e-05	2.689e-05	0.0001	1.26e-05	7.98e-06	4.736e-05	3.051e-05	0.0001	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.002203	0.37012	N	0.229845	0.84487	0.35126	D	1.57	0.39626	L	1.82	0.25018	T	-2.87	0.61865	D	0.504	0.53620	-0.5776	0.65712	T	0.176	0.52006	T	10	0.65328324	0.69727	D	0.066099	0.69776	D	0.232	0.53354	.	.	0.576839456108	0.57353	0.9896783755621646	0.98962	0.719350977625	0.62131	0.874911785126	0.93263	D	0.39022	0.75045	T	-0.0708176	0.41197	T	-0.339501	0.40402	T	0.967630445957184	0.67973	D	0.854814	0.54193	D	0.36001182	0.57836	0.29347426	0.55376	0.36001182	0.57837	0.29347426	0.55375	-11.193	0.82616	D	.	.	0.878	0.84254	P	.;.	.;.	4.307923	0.65834	24.9	0.99850245420788841	0.92925	0.77747	0.38263	D	AEFGBCI	0.145326	0.26851	N	0.448141450203448	0.64096	4.656816	0.344190015943099	0.58157	3.984828	0.930487795619339	0.27010	0.634777	0.41761	0	0.643519	0.57511	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	4.63	4.63	0.57175	2.890000	0.48308	6.709000	0.56395	0.543000	0.25316	0.956000	0.33378	1.000000	0.68203	0.094000	0.17991	0.0:1.0:0.0:0.0	17.478	0.87558	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	738.63	60	chr20	63565251	.	C	T	738.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.5;DP=445;ExcessHet=0;FS=2.156;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.31;ReadPosRankSum=0.09;SOR=1.022	GT:AD:DP:GQ:PL	0/1:34,26:60:99:749,0,825	6	0	1	0
chr21	13610565	13610565	G	A	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon1:c.G337A:p.G113S	.	444	172	461	445	0	1351	0.79705	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00277741158105	.	.	.	.	.	.	.	.	.	.	0.033169	5128	154602	rs6517869	1.401e-05	6.993e-05	3.992e-06	2.407e-05	6.081e-05	8.13e-06	6.36e-06	1.007e-05	3.77e-06	0	6.081e-05	0	0	5.033e-05	0	8.892e-06	2.573e-05	3.286e-05	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.153	0.24372	T	0.043	0.49942	D	1.0	0.90584	D	0.937	0.67262	D	.	.	.	.	1	0.08975	N	1.15	0.29295	L	1.66	0.27486	T	-1.24	0.31375	N	0.08	0.05542	-0.9968	0.30810	T	0.095	0.35818	T	8	0.068237185	0.09622	T	0.002777	0.05781	T	0.029	0.06676	0.202	0.11659	0.0934897674506	0.08844	0.04415967261073172	0.04359	.	.	0.431079089642	0.29356	T	0.012796	0.11182	T	-0.31698	0.07148	T	-0.693096	0.06212	T	0.036694748014754	0.03102	T	0.636336	0.25008	T	0.046982475	0.07955	0.08034204	0.18165	0.046982475	0.07954	0.08034204	0.18164	-7.591	0.58248	D	.	.	0.092	0.21163	B	.;.	.;.	1.490668	0.19177	14.13	0.9114633486319289	0.20400	0.00123	0.00769	N	AEFI	0.021764	0.01007	N	-0.750059816202474	0.14632	0.7304896	-1.05968458506513	0.08505	0.4185625	1.33632449358699E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.418	-0.732	0.10585	-1.777000	0.01877	.	.	0.323000	0.19410	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	.	.	.	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.6429	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	1/1:0,176:176:99:5285,528,0	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	1/1:0,124:124:99:3799,372,0	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	1/1:0,66:66:99:1879,198,0	2	3	2	0
chr21	32350817	32350817	G	C	exonic	URB1	.	nonsynonymous SNV	URB1:NM_014825:exon20:c.C2719G:p.H907D	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.00191929921136	0.0031	0.00119808	0.0019	0.0005	0	0	0	0.0034	0	0.0010	0.0007115	110	154602	rs191108186	0.0030	0.0029	0.0031	0.0029	0.0036	0.0029	0.0029	0.0035	0.0035	0.0005	0.0011	7.942e-05	0	0.0006	0.0004	0.0036	0.0027	0.0008	0.0020	0.0020	0.0022	0.0017	0.0035	0.0018	0.0017	0.0031	0.0030	0.0009	0	0.0012	0	0	0.0004	0	0.0035	0.0014	0	0.719	0.03937	T	0.724	0.05274	T	0.0	0.02946	B	0.0	0.01387	B	0.002233	0.00870	N	2.670010	1	0.08975	N	1.01	0.25309	L	1.64	0.27822	T	-0.13	0.08971	N	0.126	0.11912	-1.0260	0.21756	T	0.040	0.17319	T	10	0.0036210418	0.00066	T	0.001919	0.03404	T	0.008	0.00669	.	.	0.0551355673512	0.04727	0.254150706841034	0.25329	.	.	0.271051883698	0.06279	T	0.003907	0.03313	T	-0.649449	0.00073	T	-0.705124	0.05550	T	0.000307226553559303	0.00002	T	0.172483	0.01642	T	0.023725787	0.01137	0.034531903	0.02536	0.023725787	0.01136	0.034531903	0.02535	-1.358	0.01497	T	.	.	0.074	0.05017	B	.	.	-0.488148	0.01906	0.159	0.44106484067045543	0.03367	0.07773	0.13771	N	AEFDGBCI	0.034050	0.04151	N	-1.45685389377553	0.02163	0.09522547	-1.49526405367296	0.02383	0.1094932	0.999998779020475	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.34	-4.54	0.03207	-0.586000	0.05880	-1.458000	0.05393	-0.153000	0.12021	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0776:0.5795:0.1328:0.2101	7.425	0.26264	906	0.23090	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000958	0.000000	0.000000	0.000000	0.000000	0.000000	0.004630	0.000000	0.07143	585.53	53	chr21	32350817	.	G	C	585.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.8;DP=238;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.05;ReadPosRankSum=0.187;SOR=0.776	GT:AD:DP:GQ:PL	0/1:27,26:53:99:596,0,678	6	0	1	0
chr21	39765576	39765576	G	A	exonic	IGSF5	.	nonsynonymous SNV	IGSF5:NM_001080444:exon3:c.G142A:p.A48T	.	435	1080	7	0	0	7	0.00323027	.	.	.	3440898	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.159	0.0218231077028	.	0.000199681	8.248e-06	0	0	0	0	1.501e-05	0	0	1.94e-05	3	154602	rs73217274	4.72e-05	4.72e-05	4.764e-05	4.675e-05	0.0003	3.794e-05	3.476e-05	6.092e-05	4.197e-05	0	0	0	0	0	0.0003	5.756e-05	3.312e-05	1.159e-05	2.627e-05	2.625e-05	1.285e-05	4.03e-05	5.88e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.88e-05	0	0	0.203	0.20154	T	0.209	0.26798	T	0.801	0.45051	P	0.339	0.42346	B	0.222966	0.03468	N	1.586910	1	0.08975	N	1.4	0.35362	L	-0.27	0.67367	T	-1.56	0.37759	N	0.341	0.38232	-0.9268	0.44602	T	0.186	0.53571	T	10	0.12636322	0.24022	T	0.021823	0.44639	T	0.159	0.41286	0.391	0.41443	0.19670166235	0.19296	0.1909563385771872	0.19013	0.0968812118161	0.10932	0.274249702692	0.06703	T	0.064812	0.32529	T	-0.28789	0.09848	T	-0.543654	0.17939	T	0.21062670648098	0.20986	T	0.49875	0.15541	T	0.046190925	0.07691	0.062049177	0.12079	0.046190925	0.07691	0.062049177	0.12079	-2.28	0.04446	T	.	.	0.113	0.22135	B	.	.	0.534194	0.09029	5.811	0.93553604800612833	0.23387	0.06387	0.12389	N	AEFBI	0.090268	0.18293	N	-0.985409110449082	0.08914	0.4198514	-1.17223963210937	0.06377	0.3067627	3.43898544890857E-5	0.03775	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	4.05	-2.88	0.05342	1.824000	0.38710	0.630000	0.20219	-0.707000	0.03972	0.013000	0.18845	0.000000	0.08366	0.001000	0.02609	0.2242:0.3583:0.2954:0.1221	2.267	0.03831	846	0.36215	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	1361.23	45	chr21	39765576	.	G	A	1361.23	.	AC=2;AF=0.143;AN=14;DP=358;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=30.25;SOR=1.414	GT:AD:DP:GQ:PL	1/1:0,45:45:99:1382,135,0	6	1	0	0
chr21	42111593	42111593	T	C	exonic	UMODL1	.	nonsynonymous SNV	UMODL1:NM_001199527:exon11:c.T2155C:p.S719P,UMODL1:NM_173568:exon11:c.T2371C:p.S791P,UMODL1:NM_001004416:exon12:c.T1987C:p.S663P,UMODL1:NM_001199528:exon12:c.T1771C:p.S591P	.	429	1086	7	0	0	7	0.00321248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.127	0.0148257626651	.	0.000399361	0.0002	0	0	0	0.0008	3.003e-05	0	0.0011	0.0001746	27	154602	rs553631324	0.0001	0.0001	0.0001	0.0002	0.0013	0.0001	0.0001	0.0011	0.0011	0	0	0	0	0.0014	0.0005	8.094e-06	0.0001	0.0013	0.0001	0.0001	0.0001	0.0002	0.0008	9.739e-05	8.254e-05	0.0003	0.0002	0	0	0	0	0	0.0015	0	2.941e-05	0	0.0008	0.343	0.12592	T	0.318	0.19246	T	0.0	0.02946	B	0.0	0.04355	B	0.314422	0.14377	N	0.611410	1	0.08975	N	-0.14	0.04484	N	-0.6	0.71662	T	1.42	0.00815	N	0.109	0.09490	-0.9756	0.35993	T	0.090	0.34573	T	10	0.0057704747	0.00129	T	0.014826	0.35199	T	0.127	0.34888	0.189	0.09907	0.0716867268079	0.06686	0.1703258141373605	0.16952	0.319286686328	0.34132	0.254522800446	0.04259	T	0.001873	0.01289	T	-0.500412	0.00569	T	-0.542025	0.18099	T	0.0273917471023403	0.01600	T	0.346465	0.07620	T	0.04821682	0.08370	0.047930516	0.07013	0.04821682	0.08369	0.047930516	0.07012	-2.774	0.08896	T	.	.	0.053	0.01645	B	.;.;.;.	.;.;.;.	-0.397575	0.02222	0.224	0.50706070103927592	0.04431	0.00267	0.01455	N	AEFBHCI	0.027069	0.02146	N	-1.33620277001426	0.03270	0.1457904	-1.2685012914925	0.04862	0.2303944	0.998360629382411	0.36832	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	4.37	2.23	0.27189	-0.449000	0.06885	-0.296000	0.10153	-0.376000	0.05418	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1858:0.5258:0.1809:0.1075	2.599	0.04565	981	0.03995	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.1429	2875.22	89	chr21	42111593	.	T	C	2875.22	.	AC=2;AF=0.143;AN=14;DP=600;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=32.31;SOR=1.022	GT:AD:DP:GQ:PL	1/1:0,89:89:99:2896,267,0	6	1	0	0
chr22	17548982	17548982	C	G	exonic	CECR2	.	nonsynonymous SNV	CECR2:NM_001290046:exon17:c.C3203G:p.P1068R,CECR2:NM_001290047:exon17:c.C3695G:p.P1232R	.	428	1092	2	0	0	2	0.000914913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	.	0.0003	0.000998403	0.0020	0	0.0004	0.0001	0.0103	0.0022	0.0033	0.0008	0.0016494	255	154602	rs199780601	0.0011	0.0011	0.0011	0.0012	0.0010	0.0011	0.0011	0.0009	0.0008	0	0.0003	0.0049	5.038e-05	0.0112	0.0009	0.0007	0.0015	0.0010	0.0015	0.0015	0.0011	0.0019	0.0019	0.0013	0.0013	0.0014	0.0012	7.218e-05	0	0.0019	0.0055	0.0002	0.0090	0	0.0010	0.0014	0.0015	0.004	0.65419	D	0.017	0.63918	D	0.868	0.47740	P	0.307	0.44011	B	0.204261	0.16523	N	0.448371	1	0.08975	N	2.125	0.59049	M	1.88	0.23884	T	-1.9	0.44284	N	0.323	0.36359	-1.0484	0.14846	T	0.057	0.23904	T	10	0.0062797666	0.00142	T	.	.	.	0.049	0.13647	.	.	0.352693368174	0.34879	0.14303907396072826	0.14226	.	.	0.360431581736	0.19449	T	0.151677	0.49172	T	-0.459435	0.00991	T	-0.438581	0.28968	T	0.0421931488274367	0.04090	T	0.682032	0.29067	T	0.024358504	0.01259	0.035830993	0.02910	0.024358504	0.01259	0.035830993	0.02909	-5.087	0.37769	T	.	.	0.113	0.22171	B	.;.;.;.	.;.;.;.	0.932516	0.13078	9.581	0.98867114215146401	0.47580	0.19587	0.20718	N	AEFBI	0.073493	0.14702	N	-0.454702663887323	0.23581	1.267324	-0.655094098771247	0.18087	0.9647452	0.0568446069908384	0.15070	0.67177	0.52595	0	0.588015	0.36545	0	0.702456	0.68683	0	0.620846	0.47308	0	.	.	4.18	0.659	0.17033	1.081000	0.30402	1.220000	0.24969	0.599000	0.40250	0.005000	0.17040	0.017000	0.20586	0.001000	0.02609	0.3029:0.4808:0.0:0.2164	4.099	0.09480	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	.	.	.	.	.	.	.	.	0.07143	1465.49	136	chr22	17548982	.	C	G	1465.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.693;DP=343;ExcessHet=0;FS=2.187;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.78;ReadPosRankSum=-1.185;SOR=0.527	GT:AD:DP:GQ:PL	0/1:73,63:136:99:1476,0,1890	6	0	1	0
chr22	17689010	17689010	G	A	exonic	BCL2L13	.	nonsynonymous SNV	BCL2L13:NM_001270726:exon3:c.G326A:p.R109H,BCL2L13:NM_001270727:exon3:c.G326A:p.R109H,BCL2L13:NM_001270734:exon4:c.G254A:p.R85H,BCL2L13:NM_001363824:exon4:c.G254A:p.R85H,BCL2L13:NM_015367:exon4:c.G254A:p.R85H	.	424	1075	22	1	0	24	0.0110396	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	.	0.0058	0.00638978	0.0085	0.0012	0.0089	0.0001	0.0156	0.0104	0.0088	0.0065	0.00804	1243	154602	rs61741787	0.0088	0.0088	0.0089	0.0087	0.0260	0.0087	0.0086	0.0226	0.0213	0.0019	0.0099	0.0088	5.039e-05	0.0162	0.0260	0.0089	0.0105	0.0069	0.0072	0.0072	0.0068	0.0076	0.0109	0.0068	0.0067	0.0095	0.0090	0.0016	0	0.0109	0.0084	0.0004	0.0195	0.0306	0.0084	0.0076	0.0064	0.135	0.27663	T	0.144	0.33442	T	0.945	0.73220	P	0.481	0.57283	P	0.045303	0.23550	N	0.491473	1	0.81001	D	1.79	0.46772	L	3.56	0.04696	T	-0.96	0.46673	N	0.417	0.47022	-0.7933	0.55537	T	0.011	0.03949	T	10	0.008024782	0.00182	T	.	.	.	0.059	0.16972	.	.	0.241664281697	0.23763	0.24012876412980433	0.23926	0.151046914989	0.17050	0.245401352644	0.03299	T	0.016618	0.27242	T	-0.51851	0.00449	T	-0.510046	0.21310	T	0.0205169027326303	0.00751	T	0.915608	0.72990	D	0.04604829	0.07641	0.029454181	0.01286	0.04604829	0.07640	0.029454181	0.01286	-3.107	0.11586	T	.	.	0.184	0.39815	B	.;.;.;.;.;.	.;.;.;.;.;.	2.806007	0.36928	20.4	0.99895227752262639	0.96819	0.94183	0.60365	D	AEFBI	0.638655	0.61700	D	0.168550375348562	0.49691	3.166844	0.254502007397856	0.52906	3.462375	0.999858228876689	0.44174	0.732398	0.92422	0	0.724815	0.89359	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.58	4.57	0.55860	4.727000	0.61687	4.276000	0.42864	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0721:0.0:0.7848:0.143	9.374	0.37433	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	0.015609	0.010101	0.017663	0.014620	0.000000	0.008621	0.024390	0.015152	0.07143	484.49	37	chr22	17689010	.	G	A	484.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.991;DP=194;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.09;ReadPosRankSum=0.387;SOR=0.521	GT:AD:DP:GQ:PL	0/1:15,22:37:99:495,0,315	6	0	1	0
chr22	17875530	17875530	A	T	exonic	MICAL3	.	nonsynonymous SNV	MICAL3:NM_001136004:exon18:c.T2422A:p.F808I	.	393	1125	4	0	0	4	0.00177462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.165	0.0500050554271	.	.	4.513e-05	0	0	0	0	0.0001	0	0	2.59e-05	4	154602	rs766532706	6.066e-05	6.02e-05	6.063e-05	6.069e-05	0.0019	5.017e-05	4.622e-05	0.0011	0.0008	0	0.0001	0	0	0	0.0019	5.55e-05	0.0002	1.262e-05	7.231e-05	7.223e-05	8.997e-05	5.383e-05	0.0002	3.973e-05	3.129e-05	5.291e-05	2.836e-05	2.415e-05	0	0.0002	0	0	0	0	8.82e-05	0	0.0002	.	.	.	0.396	0.15206	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-0.31	0.68030	T	.	.	.	0.428	0.46742	-0.8013	0.55068	T	0.195	0.54942	T	8	0.18250015	0.33532	T	0.050005	0.64057	D	.	.	.	.	0.117191471859	0.11215	.	.	.	.	.	.	.	.	.	.	-0.163433	0.26234	T	-0.224228	0.52328	T	0.138190640564977	0.16118	T	0.670833	0.27951	T	.	.	.	.	.	.	.	.	-3.454	0.15794	T	.	.	0.142	0.31203	B	.	.	3.731482	0.53380	23.4	0.97608632989559496	0.34893	0.98075	0.79386	D	AEFDBI	0.837368	0.75501	D	0.161210841725064	0.49343	3.135866	0.324472373817327	0.56982	3.862523	0.999995134129736	0.74766	0.582742	0.33608	0	0.546412	0.12157	0	0.61531	0.40942	0	0.714379	0.83352	0	.	.	5.83	5.83	0.93059	7.130000	0.76842	11.150000	0.87324	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	16.188	0.81784	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	0.000509	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	687.63	48	chr22	17875530	.	A	T	687.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.16;DP=224;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.33;ReadPosRankSum=2.22;SOR=0.62	GT:AD:DP:GQ:PL	0/1:18,30:48:99:698,0,407	6	0	1	0
chr22	18922842	18922842	G	T	exonic	LOC102724788;PRODH	.	nonsynonymous SNV	PRODH:NM_001195226:exon6:c.C500A:p.T167N,LOC102724788:NM_001368249:exon6:c.C824A:p.T275N,LOC102724788:NM_001368250:exon6:c.C500A:p.T167N,PRODH:NM_016335:exon6:c.C824A:p.T275N	.	1	1438	83	0	0	83	0.02805	.	.	.	1159078	Proline_dehydrogenase_deficiency|not_provided	MONDO:MONDO:0009400,MedGen:C0268529,OMIM:239500,Orphanet:419|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.021	.	0.0333	0.0720847	0.0579	0.0104	0.1609	0.1818	0.0085	0.0437	0.0444	0.0283	0.0576771	8917	154602	rs5747933	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.604	0.07354	T	0.544	0.14961	T	0.372	0.34134	B	0.175	0.35598	B	0.065048	0.21909	N	0.496209	1	0.08975	P	.	.	.	1.43	0.32958	T	-0.27	0.12847	N	0.189	0.22998	-1.0145	0.25497	T	0.000	0.00039	T	9	0.0017009974	0.00021	T	.	.	.	0.021	0.04004	.	.	.	.	0.4946535748930686	0.49386	0.331359197874	0.35213	0.406710684299	0.26002	T	0.011657	0.16015	T	-0.651722	0.00071	T	-0.56511	0.15900	T	0.00372201777991252	0.00039	T	0.756224	0.37950	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.38444	B	.;.;.;.;.	.;.;.;.;.	0.135227	0.05303	1.794	0.91944369770692291	0.21271	0.02689	0.07326	N	AEFBI	0.081638	0.16523	N	-0.749487469426016	0.14647	0.731409	-0.754882130175184	0.15603	0.821413	0.792135918401755	0.24033	0.67177	0.52595	0	0.610034	0.51514	0	0.702456	0.68683	0	0.613276	0.41899	0	.	.	4.18	0.756	0.17569	-0.000000	0.12910	-0.138000	0.11547	0.323000	0.19410	0.000000	0.06391	0.000000	0.08366	0.093000	0.17941	0.3838:0.0:0.6162:0.0	6.269	0.20150	929	0.16858	Proline dehydrogenase domain;Proline dehydrogenase domain;Proline dehydrogenase domain;Proline dehydrogenase domain;.	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	0	0.032226	0.035354	0.036685	0.026316	0.000000	0.025862	0.024390	0.030303	0.08333	589.27	90	chr22	18922842	.	G	T	589.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.36;DP=320;ExcessHet=0;FS=1.812;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=6.55;ReadPosRankSum=-1.906;SOR=0.46	GT:AD:DP:GQ:PL	0/1:58,32:90:99:599,0,1449	5	0	1	1
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	1/1:0,140:140:99:4038,420,0	0	3	3	1
chr22	23311788	23311788	-	CCGG	exonic	BCR	.	frameshift insertion	BCR:NM_021574:exon18:c.3142_3143insCCGG:p.V1050Rfs*17,BCR:NM_004327:exon19:c.3274_3275insCCGG:p.V1094Rfs*17	Leukemia, acute lymphocytic, somatic;Leukemia, chronic myeloid, somatic	25	583	905	9	0	923	0.441838	.	.	.	1196252	Chronic_myelogenous_leukemia,_BCR-ABL1_positive|not_provided	Human_Phenotype_Ontology:HP:0005506,Human_Phenotype_Ontology:HP:0005544,MONDO:MONDO:0011996,MeSH:D015464,MedGen:C0279543,OMIM:608232,Orphanet:521|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012679	33	26028	rs372013175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	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	0/1:57,8:65:99:144,0,2370	1	0	6	0
chr22	26477019	26477019	T	C	exonic	HPS4	.	nonsynonymous SNV	HPS4:NM_152841:exon2:c.A235G:p.I79V,HPS4:NM_001349896:exon4:c.A250G:p.I84V,HPS4:NM_001349899:exon4:c.A250G:p.I84V,HPS4:NM_001349900:exon4:c.A250G:p.I84V,HPS4:NM_001349901:exon4:c.A250G:p.I84V,HPS4:NM_001349902:exon4:c.A250G:p.I84V,HPS4:NM_001349903:exon4:c.A250G:p.I84V,HPS4:NM_001349904:exon4:c.A250G:p.I84V,HPS4:NM_001349905:exon4:c.A250G:p.I84V,HPS4:NM_022081:exon4:c.A250G:p.I84V,HPS4:NM_001349898:exon5:c.A250G:p.I84V	Hermansky-Pudlak syndrome 4	0	1441	75	6	0	87	0.0293028	.	.	.	208784	Hermansky-Pudlak_syndrome|not_specified|not_provided|Hermansky-Pudlak_syndrome_4	MONDO:MONDO:0019312,MedGen:C0079504,OMIM:PS203300,Orphanet:79430|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013556,MedGen:C3484357,OMIM:614073,Orphanet:231500,Orphanet:79430	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.241	0.0623340178287	0.0033	0.00319489	0.0047	0.0008	0.0044	0	0.0005	0.0060	0.0088	0.0058	0.0044566	689	154602	rs149830675	0.0041	0.0041	0.0039	0.0044	0.0522	0.0040	0.0040	0.0473	0.0454	0.0010	0.0055	0.0139	5.038e-05	0.0007	0.0522	0.0038	0.0051	0.0058	0.0034	0.0034	0.0032	0.0036	0.0083	0.0032	0.0031	0.0063	0.0055	0.0007	0	0.0067	0.0138	0.0002	0.0006	0.0306	0.0039	0.0085	0.0083	0.784	0.03961	T	0.669	0.06490	T	0.003	0.11197	B	0.006	0.12133	B	0.252946	0.15471	N	0.647105	0.999999	0.08975	N	-0.255	0.03828	N	-2.39	0.88377	D	-0.13	0.08971	N	0.135	0.13198	-0.8639	0.50981	T	0.288	0.65968	T	10	0.005489439	0.00121	T	0.062334	0.68619	D	0.241	0.54641	.	.	0.351830644314	0.34792	0.24602720115319746	0.24516	0.0420540668612	0.04528	0.254519402981	0.04258	T	0.089147	0.38311	T	-0.430818	0.01466	T	-0.389836	0.34570	T	0.00123692600673586	0.00012	T	0.539746	0.18485	T	0.016885735	0.00230	0.03104766	0.01641	0.011325766	0.00016	0.025522374	0.00600	-5.249	0.39435	T	.	.	0.064	0.02091	B	.;.;.;.	.;.;.;.	-4.306508	0.00000	0.001	0.45153967050783667	0.03523	0.03203	0.08199	N	AEDGBCI	0.039190	0.05656	N	-2.06045918445669	0.00156	0.006693053	-2.15293289425116	0.00143	0.006274361	0.999999999999995	0.74766	0.719381	0.83141	0	0.662677	0.63036	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	5.43	-10.9	0.00151	-2.990000	0.00722	-20.000000	0.00162	-1.438000	0.01107	0.000000	0.06391	0.000000	0.08366	0.184000	0.21420	0.0:0.7341:0.0703:0.1957	21.803	0.99963	966	0.07191	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.038771	0.025253	0.048913	0.064327	0.000000	0.086207	0.024390	0.007576	0.07143	877.44	79	chr22	26477019	.	T	C	877.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.088;DP=261;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.11;ReadPosRankSum=1.98;SOR=0.739	GT:AD:DP:GQ:PL	0/1:39,40:79:99:888,0,869	6	0	1	0
chr22	31140088	31140088	A	T	exonic	PLA2G3	.	nonsynonymous SNV	PLA2G3:NM_015715:exon1:c.T267A:p.H89Q	.	247	1243	27	5	0	37	0.0146651	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	.	0.0042	0.00519169	0.0065	0.0013	0.0020	0.0027	0.0008	0.0066	0.0066	0.0170	0.0060866	941	154602	rs55984643	0.0067	0.0067	0.0064	0.0070	0.0160	0.0066	0.0065	0.0153	0.0150	0.0010	0.0025	0.0049	0.0024	0.0016	0.0136	0.0067	0.0073	0.0160	0.0040	0.0040	0.0042	0.0038	0.0137	0.0037	0.0036	0.0110	0.0101	0.0008	0	0.0021	0.0052	0.0025	0.0012	0.0034	0.0062	0.0038	0.0137	0.473	0.08408	T	0.528	0.10173	T	0.011	0.15914	B	0.003	0.08700	B	0.542083	0.11525	N	0.811223	0.999997	0.08975	N	1.15	0.29295	L	2.91	0.10008	T	-1.48	0.36189	N	0.1	0.08227	-0.9510	0.40799	T	0.010	0.03856	T	10	0.003170222	0.00053	T	.	.	.	0.024	0.04979	0.256	0.19689	0.0846915920261	0.08053	0.20376811032185027	0.20293	0.0691369018457	0.07735	0.280050009489	0.07499	T	0.024555	0.18532	T	-0.679377	0.00048	T	-0.735029	0.04102	T	0.000639412999052918	0.00006	T	0.285571	0.05082	T	0.048105877	0.08330	0.08347583	0.19133	0.048105877	0.08330	0.08347583	0.19133	-2.368	0.04940	T	.	.	0.083	0.09336	B	.	.	-0.908583	0.00912	0.034	0.48977307495182992	0.04132	0.06914	0.12939	N	AEFDBCI	0.054706	0.09970	N	-1.39168245620973	0.02715	0.1202966	-1.44971714329186	0.02772	0.1281381	0.999999117941641	0.74766	0.59774	0.34471	0	0.547309	0.14657	0	0.52208	0.10781	0	0.63947	0.58350	0	.	.	5.69	-5.44	0.02419	-0.398000	0.07320	-1.564000	0.05161	-0.092000	0.16129	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.2343:0.4697:0.2961:0.0	7.825	0.28469	624	0.65661	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.010070	0.000000	0.001359	0.026316	0.000000	0.017241	0.006098	0.015152	0.07143	429.83	43	chr22	31140088	.	A	T	429.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2;DP=215;ExcessHet=0;FS=4.546;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10;ReadPosRankSum=1.48;SOR=1.461	GT:AD:DP:GQ:PL	0/1:25,18:43:99:440,0,554	6	0	1	0
chr22	31713727	31713727	T	C	exonic	PRR14L	.	nonsynonymous SNV	PRR14L:NM_173566:exon4:c.A4112G:p.N1371S	.	437	1070	14	1	0	16	0.00742115	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.0331460710436	.	0.00119808	0.0019	0	0	0	0	0.0002	0.0039	0.0052	0.0003622	56	154602	rs559005586	0.0004	0.0004	0.0003	0.0006	0.0056	0.0004	0.0004	0.0051	0.0050	0.0003	2.8e-05	0	0	0	0.0007	0.0001	0.0005	0.0056	0.0003	0.0003	0.0002	0.0004	0.0048	0.0002	0.0002	0.0033	0.0028	4.811e-05	0	0.0002	0	0	0	0	0.0003	0	0.0048	0.075	0.34444	T	0.137	0.33894	T	0.002	0.09854	B	0.004	0.10090	B	0.319727	0.04067	N	1.503240	1	0.08975	N	0.69	0.16971	N	3.45	0.05311	T	-0.12	0.08809	N	0.039	0.01274	-0.9462	0.41615	T	0.013	0.05273	T	9	0.005148381	0.00112	T	0.033146	0.54776	D	0.012	0.01476	.	.	0.043077524339	0.03247	0.0290149774597085	0.02850	0.0572534448116	0.06337	0.226922228932	0.01748	T	0.002683	0.02075	T	-0.70467	0.00034	T	-0.782513	0.02378	T	0.0139063692253939	0.00265	T	0.719828	0.33277	T	0.043591384	0.06821	0.041604184	0.04765	0.043591384	0.06821	0.041604184	0.04765	-2.619	0.06649	T	.	.	0.083	0.09191	B	.	.	-0.000845	0.04276	1.068	0.54009869535458432	0.05052	0.20884	0.21203	N	AEFBI	0.069667	0.13799	N	-0.985746242437867	0.08907	0.4194767	-1.01311979404215	0.09496	0.4727832	0.0404620747673147	0.14441	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.53	0.901	0.18416	0.479000	0.21938	-1.391000	0.05549	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.1851:0.1574:0.6574	4.864	0.12960	155	0.93937	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001238	0.000000	0.000000	0.008772	0.000000	0.000000	0.000000	0.000000	0.07143	1708.44	142	chr22	31713727	.	T	C	1708.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.09;DP=346;ExcessHet=0;FS=2.118;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.03;ReadPosRankSum=0.311;SOR=0.562	GT:AD:DP:GQ:PL	0/1:75,67:142:99:1719,0,1828	6	0	1	0
chr22	35658950	35658950	C	T	exonic	APOL6	.	nonsynonymous SNV	APOL6:NM_030641:exon3:c.C386T:p.T129M	.	429	1083	9	1	0	11	0.00505282	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.00173868611002	0.0017	0.000599042	0.0011	0.0003	0.0012	0	0	0.0018	0.0022	0.0001	0.0010284	159	154602	rs148655812	0.0009	0.0009	0.0009	0.0009	0.0035	0.0009	0.0009	0.0023	0.0019	0.0003	0.0016	0.0156	2.52e-05	0	0.0035	0.0006	0.0017	0.0002	0.0011	0.0011	0.0011	0.0010	0.0012	0.0009	0.0009	0.0008	0.0008	0.0001	0	0.0012	0.0179	0	0	0.0034	0.0010	0.0028	0.0002	0.4	0.10482	T	0.475	0.12072	T	0.005	0.12996	B	0.004	0.10090	B	0.098321	0.02523	N	1.875430	1	0.08975	N	-0.75	0.01730	N	3.93	0.03435	T	1.88	0.00467	N	0.039	0.01274	-0.9564	0.39843	T	0.006	0.02131	T	10	0.00320673	0.00054	T	0.001739	0.02934	T	0.030	0.07022	.	.	0.141422826196	0.13715	0.34514354692216964	0.34428	0.170673729105	0.19233	0.270285248756	0.06178	T	0.01532	0.12876	T	-0.654822	0.00068	T	-0.743462	0.03746	T	0.000962655513190271	0.00009	T	0.333467	0.07063	T	0.010551167	0.00008	0.02241543	0.00267	0.010551167	0.00008	0.02241543	0.00266	-3.682	0.19052	T	.	.	0.074	0.05145	B	.	.	0.028372	0.04481	1.194	0.21632141578199093	0.00833	0.00032	0.00291	N	AEFBI	0.021000	0.00888	N	-1.29591003158858	0.03724	0.1668809	-1.25546395137915	0.05050	0.2397411	0.992659981300732	0.32919	0.706548	0.73137	0	0.724815	0.89359	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	4.14	1.99	0.25423	0.576000	0.23446	-0.580000	0.08381	-0.701000	0.04053	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3091:0.0:0.6909	6.309	0.20362	671	0.60868	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.005051	0.004076	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	1099.49	88	chr22	35658950	.	C	T	1099.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.16;DP=266;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.49;ReadPosRankSum=-0.154;SOR=0.61	GT:AD:DP:GQ:PL	0/1:44,44:88:99:1110,0,1041	6	0	1	0
chr22	36265782	36265782	G	T	exonic	APOL1	.	stopgain	APOL1:NM_001136541:exon5:c.G892T:p.E298X,APOL1:NM_001362927:exon5:c.G892T:p.E298X,APOL1:NM_001136540:exon6:c.G946T:p.E316X,APOL1:NM_003661:exon6:c.G946T:p.E316X,APOL1:NM_145343:exon7:c.G994T:p.E332X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.617745	0.05738	N	1.200530	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.79	0.78737	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.299787	0.82950	D	0.192847	0.82730	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;Tolerant;.	.;.;.;High;.	5.111238	0.85445	28.6	0.94747486642744438	0.25445	0.01550	0.05082	N	AEFDBI	0.051060	0.08984	N	-0.28464942149091	0.29742	1.651984	-0.709861734847565	0.16715	0.8855342	0.64071294737418	0.22051	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.567339	0.31927	0	.	.	3.18	-2.28	0.06438	-1.743000	0.01933	-20.000000	0.00162	-0.266000	0.06809	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4028:0.0:0.402:0.1951	3.413	0.06937	489	0.76795	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	608.44	87	chr22	36265782	.	G	T	608.44	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-1.921;DP=653;ExcessHet=0.3476;FS=168.125;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=2.58;ReadPosRankSum=1.23;SOR=8.015	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:67,20:87:99:0|1:36265782_G_T:341,0,2245:36265782	5	0	2	0
chr22	36265787	36265787	G	T	exonic	APOL1	.	nonsynonymous SNV	APOL1:NM_001136541:exon5:c.G897T:p.Q299H,APOL1:NM_001362927:exon5:c.G897T:p.Q299H,APOL1:NM_001136540:exon6:c.G951T:p.Q317H,APOL1:NM_003661:exon6:c.G951T:p.Q317H,APOL1:NM_145343:exon7:c.G999T:p.Q333H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.00174566368718	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.33753	T	0.05	0.50514	T	0.832	0.46138	P	0.6	0.50752	P	0.486182	0.05010	N	1.272740	1	0.08975	N	1.98	0.53716	M	3.59	0.04544	T	-3.32	0.66085	D	0.056	0.07262	-0.9872	0.33298	T	0.028	0.11926	T	10	0.41554847	0.56516	T	0.001746	0.02934	T	0.076	0.22200	0.787	0.90993	0.536147182381	0.53264	0.1934163824026781	0.19259	0.198314738213	0.22208	0.238215714693	0.02632	T	0.036324	0.24062	T	-0.28305	0.10346	T	-0.644358	0.09354	T	0.571350753307343	0.35286	D	0.882812	0.60417	D	0.09095966	0.21301	0.08753992	0.20354	0.09095966	0.21301	0.08753992	0.20354	-4.203	0.26795	T	.	.	0.158	0.37293	B	.;.;.;.;.	.;.;.;.;.	1.086071	0.14694	11.25	0.98800888467532288	0.46445	0.06423	0.12427	N	AEFDBI	0.210716	0.33657	N	-0.470422674084812	0.23054	1.235307	-0.693552490859705	0.17120	0.908959	0.445296783057563	0.20490	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.567339	0.31927	0	.	.	3.18	0.676	0.17125	0.445000	0.21392	-1.627000	0.05032	-0.298000	0.06216	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.0:0.0:0.5404:0.4596	7.454	0.26427	489	0.76795	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	300.53	82	chr22	36265787	.	G	T	300.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.242;DP=618;ExcessHet=0;FS=59.407;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=3.67;ReadPosRankSum=1.03;SOR=5.89	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:64,18:82:99:0|1:36265782_G_T:311,0,2200:36265782	6	0	1	0
chr22	37632465	37632465	G	A	exonic	GGA1	.	nonsynonymous SNV	GGA1:NM_001001560:exon14:c.G1498A:p.V500I,GGA1:NM_001172687:exon16:c.G1747A:p.V583I,GGA1:NM_001363771:exon16:c.G1810A:p.V604I,GGA1:NM_013365:exon16:c.G1759A:p.V587I,GGA1:NM_001172688:exon17:c.G1540A:p.V514I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.0141970399467	7.7e-05	0.000199681	8.245e-05	9.617e-05	0	0	0	1.501e-05	0	0.0005	7.12e-05	11	154602	rs369595461	9.167e-05	9.166e-05	7.216e-05	0.0001	0.0007	7.891e-05	7.366e-05	0.0005	0.0005	5.974e-05	4.472e-05	0	0	0	0.0003	6.116e-05	3.312e-05	0.0007	5.91e-05	5.906e-05	3.854e-05	8.059e-05	0.0008	3.076e-05	2.209e-05	0.0003	0.0002	2.406e-05	0	0	0	0	0	0	5.881e-05	0	0.0008	0.174	0.33753	T	0.058	0.48080	T	0.459	0.36338	P	0.061	0.26820	B	0.001944	0.37596	N	0.227092	0.788087	0.29257	N	0.895	0.22405	L	1.49	0.31470	T	0.0	0.08187	N	0.089	0.10911	-1.0494	0.14565	T	0.029	0.12234	T	10	0.0445728	0.03428	T	0.014197	0.34156	T	0.027	0.05988	.	.	0.268702046668	0.26493	0.03867904877295539	0.03813	0.212234790121	0.23721	0.529412925243	0.42952	T	0.099	0.40279	T	-0.430076	0.01481	T	-0.539395	0.18357	T	0.021575915611714	0.00861	T	0.838016	0.51077	T	0.07179267	0.15922	0.05602969	0.09936	0.07179267	0.15922	0.05602969	0.09935	-5.685	0.43560	T	.	.	0.065	0.03552	B	.;.;.;.	.;.;.;.	2.624147	0.34107	19.53	0.93469895081286658	0.23262	0.80779	0.40331	D	AEFDGBHCI	0.253287	0.37281	N	-0.416709212965912	0.24882	1.34677	-0.31760165022356	0.27530	1.528273	0.999997675659293	0.74766	0.732398	0.92422	0	0.698795	0.70079	0	0.643519	0.47002	0	0.727631	0.95156	0	.	.	5.3	3.22	0.36041	2.008000	0.40513	2.603000	0.33533	0.676000	0.76740	0.990000	0.36992	0.998000	0.33993	0.498000	0.28972	0.2281:0.1411:0.6308:0.0	5.734	0.17322	923	0.18507	Clathrin adaptor, alpha/beta/gamma-adaptin, appendage, Ig-like subdomain|Gamma-adaptin ear (GAE) domain|Clathrin adaptor, alpha/beta/gamma-adaptin, appendage, Ig-like subdomain;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	449.63	32	chr22	37632465	.	G	A	449.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.905;DP=205;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.05;ReadPosRankSum=0.487;SOR=0.776	GT:AD:DP:GQ:PL	0/1:12,20:32:99:460,0,288	6	0	1	0
chr22	37832974	37832974	C	T	exonic	ANKRD54	.	nonsynonymous SNV	ANKRD54:NM_001349853:exon6:c.G509A:p.R170H,ANKRD54:NM_001363839:exon6:c.G344A:p.R115H,ANKRD54:NM_138797:exon6:c.G704A:p.R235H	.	427	1091	4	0	0	4	0.00182983	.	.	.	2349662	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.186	0.0833403046888	0.0006	0.000399361	0.0004	0.0002	0.0007	0	0.0003	0.0005	0.0011	0.0004	0.0004204	65	154602	rs150257798	0.0006	0.0006	0.0006	0.0006	0.0038	0.0006	0.0005	0.0026	0.0022	5.974e-05	0.0005	0	0	0.0003	0.0038	0.0007	0.0005	0.0003	0.0005	0.0005	0.0006	0.0004	0.0009	0.0004	0.0004	0.0007	0.0006	0.0001	0	0.0001	0	0	0.0002	0	0.0009	0.0009	0.0004	0.017	0.51248	D	0.025	0.56192	D	1.0	0.90584	D	0.993	0.81110	D	0.000001	0.62929	D	0.056651	0.999999	0.58761	D	1.48	0.37141	L	-0.36	0.69777	T	-3.0	0.62343	D	0.655	0.77883	-0.7118	0.59864	T	0.248	0.61774	T	10	0.3801749	0.54134	T	0.08334	0.74095	D	0.373	0.69188	.	.	0.767606201311	0.76548	0.4829391204875453	0.48213	1.54214518196	0.87732	0.605088472366	0.53622	T	0.154886	0.49638	T	-0.250839	0.13996	T	-0.199209	0.54722	T	0.329701811075211	0.26213	T	0.941106	0.78031	D	0.1658413	0.36881	0.13956335	0.33296	0.1658413	0.36881	0.13956335	0.33295	-7.825	0.59871	D	.	.	0.517	0.65328	A	.;.;.	.;.;.	4.729348	0.76160	26.5	0.99675114997381964	0.78846	0.96664	0.70285	D	AEFGBI	0.523743	0.54722	D	-0.0167738413872271	0.41098	2.45214	0.0124830150031767	0.40293	2.402392	0.999999977701739	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.59	4.54	0.55220	5.598000	0.67274	5.890000	0.50749	-0.320000	0.05874	1.000000	0.71638	1.000000	0.68203	0.097000	0.18139	0.0:0.9204:0.0:0.0796	13.501	0.60909	900	0.24599	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.001359	0.014620	0.000000	0.008621	0.003049	0.000000	0.07143	607.53	64	chr22	37832974	.	C	T	607.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.14;DP=239;ExcessHet=0;FS=2.112;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.49;ReadPosRankSum=-1.571;SOR=1.034	GT:AD:DP:GQ:PL	0/1:37,27:64:99:618,0,865	6	0	1	0
chr22	40265120	40265120	C	T	exonic	TNRC6B	.	nonsynonymous SNV	TNRC6B:NM_001162501:exon5:c.C890T:p.S297F,TNRC6B:NM_015088:exon5:c.C890T:p.S297F	.	416	1102	4	0	0	4	0.00181159	.	.	.	2831986	not_provided	MedGen:C3661900	no_assertion_criteria_provided	Uncertain_significance	.	.	.	.	.	.	.	.	0.208	0.0219336753387	.	.	0.0001	0	0	0	0	2.999e-05	0	0.0007	8.41e-05	13	154602	rs759765630	9.304e-05	9.303e-05	6.398e-05	0.0001	0.0010	8.026e-05	7.519e-05	0.0005	0.0004	0	0	0	0	0	0.0010	5.576e-05	0.0003	0.0006	1.313e-05	1.312e-05	1.285e-05	1.343e-05	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0.0005	0	0.017	0.68238	D	0.082	0.41573	T	0.976	0.70673	D	0.641	0.63802	P	0.005477	0.32770	N	0.308092	0.972038	0.81001	D	1.87	0.49600	L	0.5	0.55608	T	-0.65	0.18877	N	0.596	0.63459	-0.6236	0.63839	T	0.225	0.58919	T	10	0.3027271	0.47808	T	0.021934	0.44774	T	0.208	0.49714	0.33	0.31519	0.341886373756	0.33793	0.7523726459552695	0.75184	0.460054079252	0.45564	0.62425673008	0.56331	T	0.01416	0.12111	T	-0.133728	0.30894	T	-0.065705	0.65930	T	0.144178624535899	0.16630	T	0.950605	0.81072	D	0.24327357	0.47264	0.16628526	0.38424	0.24327357	0.47264	0.16628526	0.38423	-6.912	0.54846	T	.	.	0.141	0.31507	B	.;.	.;.	4.507318	0.70554	25.5	0.99707238055657377	0.81074	0.98702	0.85770	D	AEFBI	0.558713	0.56782	D	0.541791812301243	0.69582	5.377724	0.576850239300773	0.73284	5.945374	0.999951944282825	0.48110	0.722319	0.85440	0	0.724815	0.89359	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	5.07	5.07	0.68106	5.349000	0.65779	7.708000	0.66649	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	17.470	0.87537	639	0.64210	.;.	.	.	.	.	.	Likely benign	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	0.000000	0.07143	1087.45	77	chr22	40265120	.	C	T	1087.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.988;DP=254;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.12;ReadPosRankSum=-0.097;SOR=0.716	GT:AD:DP:GQ:PL	0/1:36,41:77:99:1098,0,994	6	0	1	0
chr22	41925447	41925447	G	A	exonic	TNFRSF13C	.	nonsynonymous SNV	TNFRSF13C:NM_052945:exon3:c.C475T:p.H159Y	Immunodeficiency, common variable, 4, Autosomal recessive	1	1457	58	6	0	70	0.0234584	.	.	.	433980	Immunodeficiency,_common_variable,_4|not_provided	MONDO:MONDO:0013284,MedGen:C3150739,OMIM:613494,Orphanet:1572|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.170	.	0.0052	0.00339457	0.0056	0.0022	0.0075	0	0.0025	0.0068	0.0113	0.0056	0.0054462	842	154602	rs61756766	0.0058	0.0058	0.0056	0.0060	0.0175	0.0057	0.0057	0.0148	0.0137	0.0010	0.0071	0.0047	0	0.0028	0.0175	0.0063	0.0063	0.0053	0.0058	0.0058	0.0062	0.0054	0.0114	0.0055	0.0054	0.0100	0.0095	0.0014	0	0.0114	0.0049	0	0.0024	0.0102	0.0082	0.0123	0.0042	0.0	0.91255	D	0.0	0.92824	D	0.994	0.66517	D	0.782	0.57384	P	0.000050	0.53742	D	0.000000	0.977083	0.39334	D	1.845	0.48678	L	1.12	0.38718	T	-5.5	0.85844	D	0.577	0.59901	-0.9272	0.44545	T	0.107	0.39027	T	10	0.008018851	0.00182	T	.	.	.	0.170	0.43303	.	.	0.171220215726	0.16700	0.24987367141535083	0.24901	2.05243479993	0.94345	0.620077431202	0.55740	T	0.719618	0.92065	D	-0.243223	0.14939	T	-0.114188	0.62276	T	0.0335856785113751	0.02568	T	0.572743	0.20478	T	0.809143	0.84497	0.7438588	0.84860	0.809143	0.84498	0.7438588	0.84861	-5.305	0.39993	T	0.7740092395808532	0.85470	0.357	0.57003	A	.	.	4.121410	0.61610	24.4	0.99719896673004715	0.81984	0.79281	0.39256	D	AEFDGBCI	0.531585	0.55180	D	0.494203397348341	0.66748	4.990736	0.518743897306911	0.69252	5.333989	0.999999999999299	0.74766	0.65757	0.49021	0	0.52208	0.09955	0	0.619478	0.44681	0	0.63947	0.58350	0	.	.	5.33	5.33	0.75683	3.829000	0.55461	11.413000	0.92696	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.726000	0.34967	0.0:0.0:1.0:0.0	14.897	0.70291	130	0.94779	.	.	.	.	.	rs61756766	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.019134	0.025253	0.021798	0.032353	0.000000	0.008621	0.009146	0.011364	0.07143	387.45	39	chr22	41925447	.	G	A	387.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.15;DP=239;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.93;ReadPosRankSum=-0.13;SOR=0.741	GT:AD:DP:GQ:PL	0/1:24,15:39:99:398,0,639	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|1:103,13:116:99:0|1:42128812_A_G:226,0,4276:42128812	2	0	5	0
chr22	42144376	42144376	G	T	exonic	CYP2D7	.	unknown	UNKNOWN	.	0	1511	10	1	0	12	0.00395517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	.	.	0.00199681	0.0017	0.0056	0.0020	0	0	0.0014	0.0117	0.0008	0.0009508	147	154602	rs530621369	0.0007	0.0007	0.0007	0.0008	0.0073	0.0007	0.0007	0.0056	0.0049	0.0048	0.0016	0.0025	0	0	0.0073	0.0005	0.0019	0.0005	0.0022	0.0022	0.0023	0.0022	0.0050	0.0020	0.0019	0.0045	0.0043	0.0050	0	0.0048	0.0017	0	0	0	0.0005	0.0047	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	0.506417	0.11891	N	0.718797	.	.	.	.	.	.	.	.	.	.	.	.	0.343	0.38438	-0.5917	0.65152	T	0.266	0.63706	T	6	0.007003188	0.00159	T	.	.	.	.	.	.	.	0.190952846119	0.18690	.	.	.	.	.	.	.	0.040417	0.25519	T	-0.208165	0.19638	T	-0.0704249	0.65596	T	0.0443503099861141	0.04484	T	0.912309	0.70062	D	0.21790965	0.44285	0.24792881	0.50334	0.21790965	0.44285	0.24792881	0.50333	-11.884	0.84281	D	.	.	0.190	0.40826	B	.;.	.;.	3.130510	0.42301	21.5	0.9828430866869643	0.39889	0.77481	0.38100	D	AEFDBI	0.087155	0.17672	N	0.0136843497469711	0.42478	2.56007	-0.0395135469626049	0.37947	2.228878	0.110315647364103	0.16629	0.090766	0.02384	0	0.130567	0.03505	0	0.129117	0.03641	0	0.079188	0.02158	0	.	.	3.02	3.02	0.33970	2.039000	0.40815	3.312000	0.37472	0.634000	0.51959	0.409000	0.26241	0.988000	0.31051	0.073000	0.16832	0.0:0.0:1.0:0.0	9.836	0.40139	106	0.95650	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	553.63	65	chr22	42144376	.	G	T	553.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.973;DP=261;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=59.63;MQRankSum=0.874;QD=8.52;ReadPosRankSum=2.29;SOR=0.74	GT:AD:DP:GQ:PL	0/1:38,27:65:99:564,0,947	6	0	1	0
chr22	42627336	42627336	G	A	exonic	CYB5R3	.	nonsynonymous SNV	CYB5R3:NM_000398:exon7:c.C601T:p.H201Y,CYB5R3:NM_001129819:exon7:c.C532T:p.H178Y,CYB5R3:NM_001171660:exon7:c.C700T:p.H234Y,CYB5R3:NM_007326:exon7:c.C532T:p.H178Y,CYB5R3:NM_001171661:exon8:c.C532T:p.H178Y	Methemoglobinemia, type I, Autosomal recessive;Methemoglobinemia, type II, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.0363357384185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.40068	D	0.023	0.57104	D	0.0	0.02946	B	0.006	0.12133	B	0.599130	0.10975	N	0.849915	0.977705	0.27598	N	0.625	0.15840	N	-2.14	0.86415	D	-2.39	0.53096	N	0.323	0.36674	-0.4737	0.69594	T	0.406	0.75550	T	10	0.24845171	0.42142	T	0.036336	0.56926	D	0.131	0.35738	0.474	0.55020	0.850653393448	0.84922	0.4023685022509995	0.40152	0.0841933520624	0.09501	0.437512814999	0.30238	T	0.253934	0.62452	T	-0.0444815	0.45283	T	-0.301671	0.44548	T	0.19531401077616	0.20153	T	0.956938	0.83632	D	0.13630065	0.31601	0.122700125	0.29595	0.13630065	0.31601	0.122700125	0.29594	-7.662	0.59747	D	0.2454247125663213	0.33241	0.097	0.20741	B	.;.;.;.;.	.;.;.;.;.	3.449387	0.48029	22.5	0.9852826154922012	0.42558	0.73655	0.36028	D	AEFDBI	0.300642	0.40938	N	-0.413711323514241	0.24988	1.353201	-0.378639169597478	0.25635	1.410964	0.999299543577541	0.39042	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	3.69	2.67	0.30756	0.852000	0.27417	7.393000	0.58525	0.672000	0.70159	0.604000	0.27780	1.000000	0.68203	0.933000	0.47100	0.1045:0.1793:0.5317:0.1844	2.701	0.04831	263	0.89692	.;Oxidoreductase FAD/NAD(P)-binding;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	398.44	53	chr22	42627336	.	G	A	398.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.809;DP=233;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.52;ReadPosRankSum=-1.538;SOR=0.555	GT:AD:DP:GQ:PL	0/1:32,21:53:99:409,0,758	6	0	1	0
chr22	44822469	44822469	G	C	exonic	ARHGAP8;PRR5-ARHGAP8	.	nonsynonymous SNV	ARHGAP8:NM_001198726:exon6:c.G485C:p.R162P,ARHGAP8:NM_181335:exon6:c.G485C:p.R162P,ARHGAP8:NM_001017526:exon7:c.G578C:p.R193P,PRR5-ARHGAP8:NM_181334:exon9:c.G878C:p.R293P	.	0	225	1	0	0	1	0.00221729	0.9822	0.64	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	.	.	.	8.287e-06	0	0	0	0	1.503e-05	0	0	3.84e-05	1	26028	rs1383604244	5.509e-05	5.336e-05	4.97e-05	6.056e-05	7.071e-05	4.473e-05	4.133e-05	5.741e-05	5.305e-05	0	0	0	0	0	0	7.071e-05	0	0	6.577e-06	6.568e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.054	0.48186	T	0.121	0.40747	T	0.49	0.68779	P	0.195	0.65306	B	0.009431	0.30364	U	0.000000	0.97607	0.39244	D	2.855	0.82945	M	-0.0	0.62608	T	-2.4	0.61129	N	0.757	0.75559	-0.4849	0.69191	T	0.311	0.68175	T	10	0.66999304	0.70655	D	0.086757	0.74801	D	0.330	0.65226	0.518	0.61915	0.62434799699	0.62129	0.8165361369984372	0.83273	.	.	0.322178930044	0.13751	T	0.248256	0.61802	T	0.0769329	0.61679	D	-0.0304136	0.68341	D	0.707217752933502	0.41064	D	0.913709	0.78488	D	0.50329417	0.67288	0.51605105	0.72038	0.50329417	0.67289	0.51605105	0.72038	-7.388	0.66713	T	.	.	0.495	0.71435	A	.;.;.;.;.	.;.;.;.;.	4.300194	0.65647	24.9	0.99317256889906447	0.59241	0.79603	0.39477	D	AEFBCI	0.595833	0.59023	D	-0.127228680034372	0.36209	2.089944	-0.158708201806871	0.33075	1.888174	0.59368069868963	0.21668	0.732398	0.92422	0	0.547309	0.14657	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	4.12	3.1	0.34780	1.034000	0.29811	1.528000	0.27139	0.618000	0.50648	0.858000	0.30578	0.994000	0.32194	0.181000	0.21328	0.0958:0.0:0.9042:0.0	10.126	0.41823	988	0.01987	CRAL-TRIO lipid binding domain|CRAL-TRIO lipid binding domain|CRAL-TRIO lipid binding domain;CRAL-TRIO lipid binding domain|CRAL-TRIO lipid binding domain;CRAL-TRIO lipid binding domain|CRAL-TRIO lipid binding domain|CRAL-TRIO lipid binding domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	412.46	46	chr22	44822469	.	G	C	412.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.137;DP=244;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.97;ReadPosRankSum=-1.838;SOR=0.551	GT:AD:DP:GQ:PL	0/1:24,22:46:99:423,0,481	6	0	1	0
chr22	46262091	46262091	G	A	exonic	PKDREJ	.	nonsynonymous SNV	PKDREJ:NM_006071:exon1:c.C1232T:p.A411V	.	439	1075	8	0	0	8	0.00370714	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.190	.	.	0.00898562	0.0050	0	0	0.0001	0	1.499e-05	0	0.0362	0.0042949	664	154602	rs548650819	0.0024	0.0024	0.0013	0.0034	0.0379	0.0023	0.0023	0.0369	0.0364	8.961e-05	2.236e-05	0	7.557e-05	0	0.0012	1.978e-05	0.0026	0.0379	0.0011	0.0012	0.0004	0.0019	0.0358	0.0010	0.0010	0.0314	0.0297	0	0	6.533e-05	0	0.0002	0	0	0	0.0005	0.0358	0.018	0.50676	D	0.037	0.51737	D	0.877	0.48223	P	0.56	0.49558	P	0.017974	0.27594	N	0.254049	1	0.08975	N	2.36	0.67893	M	-0.44	0.69777	T	-1.59	0.38345	N	0.186	0.20262	-0.7389	0.58509	T	0.279	0.65099	T	10	0.004831463	0.00103	T	.	.	.	0.190	0.46781	0.741	0.87317	0.636338961461	0.63335	0.624777415327211	0.62410	.	.	0.254787713289	0.04289	T	0.308003	0.68012	T	-0.427489	0.01535	T	-0.360375	0.38009	T	0.114089299615074	0.13842	T	0.772623	0.40374	T	0.09479906	0.22296	0.17239438	0.39491	0.09479906	0.22296	0.17239438	0.39490	-2.677	0.07112	T	.	.	0.177	0.38711	B	.	.	2.484032	0.32036	18.92	0.99887653632632756	0.96281	0.20967	0.21233	N	AEFDBI	0.067714	0.13324	N	-0.201417386125871	0.33075	1.872491	-0.376603856033024	0.25695	1.414709	0.999992476519673	0.74766	0.446893	0.09132	0	0.563428	0.19063	0	0.563428	0.18855	0	0.530356	0.10902	0	.	.	4.78	2.55	0.29757	1.955000	0.39997	2.465000	0.32872	0.676000	0.76740	0.019000	0.19563	0.141000	0.23092	0.012000	0.09680	0.08:0.0:0.7765:0.1435	9.233	0.36609	942	0.12992	PKD/REJ-like domain|REJ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.018939	0.1429	3424.34	98	chr22	46262091	.	G	A	3424.34	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-1.167;DP=428;ExcessHet=0.3476;FS=0.921;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=12.68;ReadPosRankSum=1.03;SOR=0.755	GT:AD:DP:GQ:PL	0/1:51,47:98:99:1148,0,1319	5	0	2	0
chr22	50099551	50099551	G	A	exonic	MOV10L1	.	nonsynonymous SNV	MOV10L1:NM_001164104:exon3:c.G391A:p.A131T,MOV10L1:NM_001164105:exon3:c.G331A:p.A111T,MOV10L1:NM_018995:exon3:c.G391A:p.A131T	.	427	1082	13	0	0	13	0.00597152	.	.	.	2819741	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.035	.	0.0048	0.00319489	0.0063	0.0006	0.0008	0	0.0045	0.0075	0.0055	0.0130	0.0059443	919	154602	rs140532446	0.0063	0.0063	0.0059	0.0066	0.0119	0.0061	0.0061	0.0113	0.0110	0.0011	0.0014	0.0044	2.519e-05	0.0051	0.0049	0.0065	0.0054	0.0119	0.0051	0.0051	0.0052	0.0050	0.0110	0.0048	0.0047	0.0086	0.0078	0.0008	0.0175	0.0040	0.0052	0	0.0047	0	0.0079	0.0047	0.0110	0.131	0.27663	T	0.283	0.27679	T	0.06	0.23119	B	0.012	0.16012	B	0.065208	0.21897	N	0.499227	1	0.29541	N	0.995	0.25082	L	0.99	0.41750	T	-1.65	0.39503	N	0.126	0.14054	-1.0202	0.23649	T	0.064	0.26597	T	10	0.009549081	0.00215	T	.	.	.	0.035	0.08770	.	.	0.385906861911	0.38208	0.23159866864943857	0.23074	0.0885955950307	0.10020	0.324762225151	0.14142	T	0.068284	0.33418	T	-0.58178	0.00188	T	-0.597432	0.13028	T	0.00551561521669583	0.00060	T	0.614539	0.23564	T	0.062453996	0.13045	0.09583693	0.22747	0.062453996	0.13045	0.09583693	0.22746	-4.22	0.27040	T	.	.	0.081	0.13315	B	.;.;.;.	.;.;.;.	1.892568	0.24040	16.25	0.97746239927388634	0.35714	0.64828	0.32534	D	AEFGI	0.137595	0.25862	N	-0.441556498442041	0.24028	1.294502	-0.416078732536775	0.24525	1.343467	0.00578068170499047	0.11039	0.516011	0.20929	0	0.59043	0.45803	0	0.573888	0.23631	0	0.586402	0.36253	0	.	.	5.76	3.64	0.40864	2.114000	0.41535	2.139000	0.30831	0.676000	0.76740	0.941000	0.32681	0.465000	0.25022	0.001000	0.02609	0.1719:0.0:0.8281:0.0	9.074	0.35672	934	0.15400	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006042	0.000000	0.005435	0.002924	0.000000	0.017241	0.003049	0.015152	0.07143	1355.44	104	chr22	50099551	.	G	A	1355.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.183;DP=286;ExcessHet=0;FS=0.735;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.03;ReadPosRankSum=-1.034;SOR=0.782	GT:AD:DP:GQ:PL	0/1:46,58:104:99:1366,0,1073	6	0	1	0
chr22	50549318	50549318	C	G	exonic	KLHDC7B	.	nonsynonymous SNV	KLHDC7B:NM_138433:exon1:c.C3075G:p.I1025M	.	429	1088	5	0	0	5	0.00229253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.283	0.101356780808	0.0009	.	0.0006	0.0001	8.726e-05	0	0.0008	0.0009	0.0012	6.112e-05	0.0005304	82	154602	rs139536561	0.0008	0.0008	0.0008	0.0009	0.0011	0.0008	0.0008	0.0010	0.0010	2.987e-05	0.0002	0	0	0.0002	0.0003	0.0011	0.0004	8.115e-05	0.0007	0.0007	0.0007	0.0006	0.0012	0.0006	0.0005	0.0010	0.0009	9.618e-05	0	0.0007	0	0	0.0007	0	0.0012	0.0005	0.0002	0.009	0.57480	D	0.029	0.54541	D	0.997	0.70673	D	0.979	0.74454	D	0.031376	0.25177	U	0.193170	0.826434	0.28816	N	1.28	0.32218	L	-1.3	0.79571	T	-1.44	0.35399	N	0.203	0.22486	-0.2761	0.75646	T	0.516	0.81869	D	10	0.12789893	0.24327	T	0.101357	0.77419	D	0.283	0.60100	.	.	0.886456965538	0.88533	0.32153719833206335	0.32066	.	.	0.36568158865	0.20210	T	0.238647	0.60660	T	-0.356696	0.04320	T	-0.341494	0.40176	T	0.0285206643287913	0.01765	T	0.630737	0.24588	T	0.15716481	0.35427	0.14706434	0.34818	0.15716481	0.35427	0.14706434	0.34817	-8.169	0.62216	D	.	.	0.193	0.43269	B	.;.	.;.	2.833745	0.37365	20.5	0.99660355653802379	0.77883	0.67121	0.33318	D	AEFDGBCI	0.230559	0.35392	N	0.286173565917075	0.55446	3.708792	0.251647478004026	0.52742	3.447135	0.999998756173246	0.74766	0.542737	0.22433	0	0.685571	0.66316	0	0.578056	0.29568	0	0.63947	0.58350	0	.	.	5.35	3.23	0.36150	0.966000	0.28929	0.940000	0.22845	0.549000	0.26987	0.893000	0.31264	1.000000	0.68203	0.998000	0.85391	0.0:0.754:0.1573:0.0887	8.369	0.31566	584	0.69381	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1645.44	153	chr22	50549318	.	C	G	1645.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.394;DP=356;ExcessHet=0;FS=1.265;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.75;ReadPosRankSum=1.5;SOR=0.574	GT:AD:DP:GQ:PL	0/1:77,76:153:99:1656,0,1955	6	0	1	0
chrX	6533750	6533750	C	T	exonic	VCX3A	.	nonsynonymous SNV	VCX3A:NM_016379:exon3:c.G556A:p.V186M	.	434	1062	26	0	0	26	0.012093	.	.	.	3886662	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.057	.	.	.	0.0109	0.0078	0.0053	0	0.0141	0.0140	0.0103	0.0102	0.0002135	33	154602	rs74393938	0.0014	0.0055	0.0019	0.0003	0.0017	0.0013	0.0013	0.0014	0.0013	0.0008	0.0008	0.0047	0.0002	0.0033	0.0003	0.0012	0.0022	0.0017	0.0030	0.0069	0.0041	0	0.0035	0.0027	0.0026	0.0028	0.0026	0.0035	0	0.0018	0.0029	0.0003	0.0071	0	0.0028	0.0055	0.0017	0.0	0.91255	D	0.101	0.38596	T	0.982	0.60036	D	0.729	0.55225	P	.	.	.	.	0.999973	0.19072	N	0.695	0.17993	N	1.91	0.23283	T	0.14	0.05405	N	0.075	0.25867	-1.0439	0.16148	T	0.046	0.19800	T	8	0.0052250326	0.00114	T	.	.	.	0.057	0.16321	.	.	.	.	0.010725019350369076	0.01033	0.268142659766	0.29341	0.496027678251	0.38275	T	0.001791	0.01214	T	-0.39512	0.02492	T	-0.805339	0.01772	T	0.0207467507570982	0.00774	T	0.432757	0.11777	T	0.15995844	0.35904	0.15014142	0.35422	0.15995844	0.35904	0.15014142	0.35422	-4.895	0.35678	T	.	.	0.144	0.33573	B	.;.;.	.;.;.	0.449974	0.08202	4.937	0.85326322252058417	0.15823	0.04088	0.09549	N	AEFI	.	.	.	.	.	.	.	.	.	7.46993312473294E-5	0.04552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.463	0.463	0.15912	-0.735000	0.04992	0.109000	0.14755	0.173000	0.17773	0.000000	0.06391	0.012000	0.20211	0.002000	0.04165	.	.	.	1000	0.00083	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.075304	0.057692	0.100935	0.063953	0.000000	0.048193	0.057292	0.040462	0.07143	346.44	104	chrX	6533750	.	C	T	346.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.48;DP=968;ExcessHet=0;FS=35.182;MLEAC=1;MLEAF=0.071;MQ=47.63;MQRankSum=-2.788;QD=3.33;ReadPosRankSum=3.03;SOR=5.33	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:89,15:104:99:0|1:6533736_G_C:357,0,3692:6533736	6	0	1	0
chrX	6533798	6533798	C	T	exonic	VCX3A	.	nonsynonymous SNV	VCX3A:NM_016379:exon3:c.G508A:p.V170M	.	440	949	96	2	35	135	0.0500501	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	.	0.0069	0.0111258	0.0082	0.0107	0.0039	0.0002	0.0084	0.0092	0.0102	0.0105	0.0016905	44	26028	rs150302824	0.0013	0.0039	0.0020	1.813e-05	0.0039	0.0013	0.0013	0.0022	0.0017	0.0002	0.0004	0.0017	0.0001	0.0060	0.0039	0.0012	0.0016	0.0012	0.0038	0.0066	0.0051	4.212e-05	0.0069	0.0035	0.0033	0.0048	0.0046	0.0021	0.0018	0.0007	0.0067	0.0003	0.0033	0.0123	0.0054	0.0024	0.0069	0.18	0.21968	T	0.053	0.47336	T	0.147	0.27870	B	0.012	0.16012	B	.	.	.	.	1	0.08975	N	0.14	0.08730	N	1.95	0.22474	T	-1.11	0.32991	N	0.061	0.03283	-1.0093	0.27136	T	0.014	0.05657	T	9	0.0061380565	0.00138	T	.	.	.	0.016	0.02506	.	.	0.043077524339	0.03247	0.0029042973972772407	0.00270	0.268142659766	0.29341	0.492105185986	0.37731	T	0.008069	0.07427	T	-0.801426	0.00008	T	-0.959347	0.00234	T	0.0014211687957868	0.00014	T	0.418458	0.11053	T	0.07575911	0.17089	0.0887198	0.20703	0.07575911	0.17089	0.0887198	0.20702	-7.283	0.56074	T	.	.	0.128	0.27161	B	.;.	.;.	0.636114	0.10045	6.796	0.36933765174065997	0.02404	0.00020	0.00220	N	AEFI	.	.	.	.	.	.	.	.	.	1.41924753792295E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.595	-1.19	0.09091	-2.402000	0.01125	-3.692000	0.02601	-1.745000	0.00696	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.0:0.4005:0.3328:0.2667	2.317	0.03945	1000	0.00083	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.029605	0.010870	0.016822	0.040698	0.000000	0.048193	0.050279	0.035294	0.1	484.95	55	chrX	6533798	.	C	T	484.95	.	AC=1;AF=0.1;AN=10;BaseQRankSum=4.28;DP=898;ExcessHet=0;FS=20.033;MLEAC=1;MLEAF=0.1;MQ=35.48;MQRankSum=-1.333;QD=11.55;ReadPosRankSum=2.03;SOR=0.353	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:18,24:55:99:0|1:6533793_C_*:952,0,671:6533793	4	0	1	2
chrX	6533801	6533801	G	C	exonic	VCX3A	.	nonsynonymous SNV	VCX3A:NM_016379:exon3:c.C505G:p.Q169E	.	437	999	51	0	35	86	0.0248902	.	.	.	1196393	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.026	.	0.0098	0.0116556	0.0019	0.0108	0.0004	0.0031	0.0016	0.0009	0.0017	0.0009	0.0018057	47	26028	rs137964452	0.0004	0.0012	0.0005	0.0002	0.0007	0.0003	0.0003	0.0003	0.0003	0.0003	3.166e-05	0	0.0004	0.0016	0.0007	0.0004	0.0003	0.0003	0.0011	0.0030	0.0014	0	0.0026	0.0009	0.0008	0.0021	0.0019	0.0026	0	0.0004	0.0009	0.0007	0	0	0.0006	0	0	1.0	0.09989	T	1.0	0.03886	T	0.416	0.35222	B	0.055	0.25995	B	.	.	.	.	1	0.08975	N	0.11	0.08516	N	2.35	0.16217	T	-0.26	0.14193	N	0.072	0.08506	-0.9646	0.38290	T	0.011	0.03949	T	9	0.0056487024	0.00125	T	.	.	.	0.026	0.05648	.	.	0.043077524339	0.03247	8.920462994297167E-4	0.00082	0.28885402027	0.31292	0.502566754818	0.39186	T	0.001323	0.00800	T	-0.921897	0.00000	T	-1.14257	0.00010	T	0.0691892443533896	0.08538	T	0.482252	0.15733	T	0.08899886	0.20780	0.08663842	0.20087	0.08899886	0.20779	0.08663842	0.20086	-3.392	0.14949	T	.	.	0.035	0.00008	B	.;.	.;.	-0.785054	0.01137	0.053	0.10694135607750728	0.00141	0.00075	0.00520	N	AEFI	.	.	.	.	.	.	.	.	.	1.79158850418598E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.595	-1.19	0.09091	-1.991000	0.01567	-4.683000	0.02035	0.163000	0.17726	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.4706:0.0:0.2622:0.2672	1.932	0.03126	1000	0.00083	.;.	.	.	.	.	.	Likely benign	0	0	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	0.014622	0.043478	0.016822	0.011628	0.000000	0.000000	0.016760	0.000000	0.1	484.95	56	chrX	6533801	.	G	C	484.95	.	AC=1;AF=0.1;AN=10;BaseQRankSum=1.65;DP=881;ExcessHet=0;FS=16.236;MLEAC=1;MLEAF=0.1;MQ=35.56;MQRankSum=-1.465;QD=11.28;ReadPosRankSum=1.67;SOR=0.378	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:19,24:56:99:0|1:6533793_C_*:949,0,694:6533793	4	0	1	2
chrX	8466064	8466064	A	-	exonic	VCX3B	.	frameshift deletion	VCX3B:NM_001001888:exon3:c.422delA:p.E142Nfs*3	.	733	779	3	0	7	10	0.00192184	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006916	18	26028	rs1359413202	0.0014	0.0017	0.0018	0.0004	0.0065	0.0013	0.0012	0.0054	0.0050	0.0020	0.0065	0.0005	0.0046	0.0019	0.0007	0.0006	0.0013	0.0025	2.596e-05	0.0004	2.945e-05	0	0.0004	0	0	.	.	0	0	0.0004	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	32.55	3	chrX	8466063	.	GA	G	32.55	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=191;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=37.26;MQRankSum=0.431;QD=10.85;ReadPosRankSum=0;SOR=0.368	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:2,1:3:43:0|1:8466063_GA_G:43,0,52:8466063	6	0	1	0
chrX	8466067	8466215	AACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGGTGGAAGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGGTGGAA	-	exonic	VCX3B	.	frameshift deletion	VCX3B:NM_001001888:exon3:c.425_573del:p.E142Gfs*98	.	731	782	3	0	6	9	0.00191449	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.0011	0.0007	0.0001	0.0031	0.0005	0.0005	0.0025	0.0023	0.0002	0.0008	0.0002	0.0031	0.0010	0	0.0002	0.0007	0.0010	8.12e-05	0.0002	9.3e-05	0	0.0004	2.152e-05	1.096e-05	7.594e-05	3.142e-05	0.0004	0	0.0004	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	44.5	7	chrX	8466066	.	GAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGGTGGAAGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGGTGGAA	G	44.5	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.431;DP=272;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=40.7;MQRankSum=0.18;QD=6.36;ReadPosRankSum=0;SOR=0.368	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:6,1:7:55:0|1:8466063_GA_G:55,0,110:8466063	6	0	1	0
chrX	8466095	8466155	GGAACCACTGAGTCAGGAGAGCGAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGGTGGAA	0	exonic	VCX3B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	81.72	7	chrX	8466095	.	GGAACCACTGAGTCAGGAGAGCGAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGGTGGAA	*	81.72	.	AC=1;AF=0.071;AN=14;DP=274;ExcessHet=0;FS=3.09;MLEAC=1;MLEAF=0.071;MQ=34.08;MQRankSum=0.319;QD=20.43;SOR=0.078	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:6,1:7:55:0|1:8466063_GA_G:55,0,110:8466063	6	0	1	0
chrX	8466125	8466215	GGAACCACTGAGTCAGGAGAGCGAGGTGGAAGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGGTGGAA	0	exonic	VCX3B	.	.	.	.	573	905	12	5	27	49	0.0120087	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	2198.08	4	chrX	8466125	.	GGAACCACTGAGTCAGGAGAGCGAGGTGGAAGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGGTGGAA	*	2198.08	.	AC=4;AF=0.286;AN=14;BaseQRankSum=1.6;DP=334;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.214;MQ=40.09;MQRankSum=0.911;QD=26.17;ReadPosRankSum=0.677;SOR=0.884	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:3,1:4:35:1|1:8466063_GA_G:1580,71,0:8466063	5	2	0	0
chrX	8466215	8466215	A	0	exonic	VCX3B	.	.	.	.	689	655	115	37	26	215	0.126084	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	3405.84	4	chrX	8466215	.	A	*	3405.84	.	AC=4;AF=0.333;AN=12;BaseQRankSum=2.63;DP=511;ExcessHet=0.1336;FS=18.519;MLEAC=4;MLEAF=0.333;MQ=43.11;MQRankSum=-0.368;QD=9.06;ReadPosRankSum=0.255;SOR=1.351	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:3,1:4:71:1|1:8466063_GA_G:1580,71,0:8466063	4	2	0	1
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|1:93,14:107:41:0|1:10469688_G_A:41,0,3390:10469688	3	0	4	0
chrX	10469690	10469690	T	C	exonic	MID1	.	nonsynonymous SNV	MID1:NM_001193279:exon6:c.A1292G:p.Y431C,MID1:NM_001193280:exon6:c.A1178G:p.Y393C,MID1:NM_001193278:exon7:c.A1445G:p.Y482C	Opitz GBBB syndrome, type I, X-linked recessive	.	.	.	.	.	.	.	0.0842	0.246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0089	0.0017	0	0.0014	0.0011	0.0011	0.0013	0.0013	0.0011	5.717e-05	0.0005	0.0003	0	0	0.0014	0.0011	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.69154	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.611	0.62781	.	.	.	.	.	.	.	0.5160695	0.62373	D	.	.	.	.	.	.	.	0.702451314445	0.69986	.	.	.	.	.	.	.	0.029078	0.20915	T	-0.0458167	0.45080	T	-0.303589	0.44343	T	.	.	.	0.416058	0.10924	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	0.48469	B	.	.	1.822216	0.23154	15.91	0.93045119261725329	0.22651	0.71697	0.35125	D	AEFBI	.	.	.	.	.	.	.	.	.	0.99999824567079	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	0.483522	0.39157	5.6	5.6	0.84997	3.630000	0.54014	4.911000	0.45953	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0763:0.0:0.9237	10.887	0.46181	505	0.75648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2143	1325.05	107	chrX	10469690	.	T	C	1325.05	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-3.2;DP=534;ExcessHet=1.1394;FS=164.992;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=3.29;ReadPosRankSum=0.784;SOR=9.346	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,14:107:41:0|1:10469688_G_A:41,0,3390:10469688	4	0	3	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|1:93,14:107:41:0|1:10469688_G_A:41,0,3384:10469688	3	0	4	0
chrX	11763869	11763869	C	T	exonic	MSL3	.	nonsynonymous SNV	MSL3:NM_001282174:exon7:c.C392T:p.A131V,MSL3:NM_006800:exon7:c.C341T:p.A114V,MSL3:NM_001193270:exon8:c.C803T:p.A268V,MSL3:NM_078628:exon8:c.C839T:p.A280V,MSL3:NM_078629:exon8:c.C839T:p.A280V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00872732225922	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.359	0.19430	T	0.328	0.18789	T	0.003	0.11197	B	0.009	0.14300	B	0.001256	0.39669	N	0.249192	0.899739	0.36143	D	1.905	0.50856	L	2.9	0.10101	T	-1.66	0.42957	N	0.136	0.15888	-1.0732	0.08724	T	0.024	0.10239	T	10	0.3093226	0.48421	T	0.008727	0.23050	T	0.060	0.17295	0.576	0.70087	0.379559396232	0.37572	0.43041735901690015	0.42958	0.633052333057	0.57212	0.344832241535	0.17158	T	0.034937	0.23521	T	-0.323792	0.06592	T	-0.702881	0.05670	T	0.735322415828705	0.42488	D	0.873013	0.59013	D	0.099557064	0.23496	0.13010423	0.31269	0.099557064	0.23496	0.13010423	0.31268	-5.63	0.47777	T	0.6474824191595265	0.71911	0.088	0.12181	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	2.454206	0.31607	18.79	0.96965764751673256	0.31799	0.83929	0.43019	D	AEFBCI	.	.	.	.	.	.	.	.	.	0.999999821373193	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.85	3.92	0.44525	5.372000	0.65909	3.365000	0.37889	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.8675:0.0:0.1325	8.523	0.32445	738	0.53389	.;MRG domain|MRG domain;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	220.64	26	chrX	11763869	.	C	T	220.64	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.445;DP=163;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.49;ReadPosRankSum=-0.468;SOR=0.766	GT:AD:DP:GQ:PL	0/1:15,11:26:99:231,0,373	6	0	1	0
chrX	24364312	24364336	CCTGCTCCTGCTCTAGCTGCTGCTG	0	exonic	SUPT20HL1	.	.	.	.	385	1083	16	7	31	61	0.0136612	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	801.71	22	chrX	24364312	.	CCTGCTCCTGCTCTAGCTGCTGCTG	*	801.71	.	AC=3;AF=0.3;AN=10;BaseQRankSum=0.247;DP=385;ExcessHet=0.2119;FS=10.417;MLEAC=4;MLEAF=0.4;MQ=59.89;MQRankSum=0;QD=11.62;ReadPosRankSum=1.97;SOR=1.72	GT:AD:DP:GQ:PL	0/1:18,4:22:99:565,0,678	3	1	1	2
chrX	48601934	48601934	G	A	exonic	WDR13	.	nonsynonymous SNV	WDR13:NM_001166426:exon5:c.G706A:p.V236I,WDR13:NM_017883:exon6:c.G982A:p.V328I,WDR13:NM_001347217:exon7:c.G982A:p.V328I,WDR13:NM_001347219:exon7:c.G706A:p.V236I	.	415	1102	3	2	0	7	0.00316599	.	.	.	729838	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.066	0.0172953416684	0.0009	0.0010596	0.0005	0	0.0006	0	0	0.0008	0	0.0003	0.000511	79	154602	rs150193416	0.0007	0.0008	0.0008	0.0007	0.0012	0.0007	0.0007	0.0008	0.0008	0.0001	0.0011	5.437e-05	0	2.498e-05	0.0012	0.0008	0.0007	0.0005	0.0008	0.0008	0.0008	0.0008	0.0014	0.0007	0.0006	0.0011	0.0010	9.625e-05	0	0.0011	0	0	0	0.0092	0.0014	0	0	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	0.000428	0.44522	D	0.193011	0.981097	0.25064	N	.	.	.	-0.14	0.65006	T	0.64	0.02368	N	0.084	0.06322	-0.9977	0.30563	T	0.071	0.29034	T	10	0.011793971	0.00256	T	0.017295	0.38942	T	0.066	0.19193	.	.	0.117191471859	0.11215	0.3298744993299428	0.32900	0.829028930232	0.67549	0.488516926765	0.37232	T	0.012755	0.11155	T	-0.570031	0.00221	T	-0.637138	0.09879	T	0.00486686565546215	0.00052	T	0.810219	0.46129	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.04436	B	.;.;.	.;.;.	0.831588	0.12032	8.586	0.26226034530664866	0.01246	0.77327	0.38007	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.981586576131432	0.30283	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.4	3.65	0.40985	1.985000	0.40289	3.736000	0.39634	-0.131000	0.13161	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.2829:0.0:0.7171:0.0	7.170	0.24893	167	0.93508	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.001376	0.000000	0.001855	0.000000	0.000000	0.000000	0.004425	0.000000	0.07143	712.44	80	chrX	48601934	.	G	A	712.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.721;DP=248;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.91;ReadPosRankSum=-0.692;SOR=0.638	GT:AD:DP:GQ:PL	0/1:49,31:80:99:723,0,1221	6	0	1	0
chrX	49039321	49039321	G	A	exonic	TFE3	.	nonsynonymous SNV	TFE3:NM_001282142:exon3:c.C5T:p.S2L,TFE3:NM_006521:exon3:c.C320T:p.S107L	Renal cell carcinoma, papillary, 1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.00633501382377	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1264471344	3.693e-06	3.652e-06	4.101e-06	2.843e-06	3.338e-05	8.6e-07	5.8e-07	9.6e-07	2.7e-07	0	0	0	3.338e-05	0	0	3.612e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.213	0.26467	T	0.081	0.24602	B	0.006	0.12133	B	0.033198	0.24930	N	0.326142	0.592321	0.32467	D	1.7	0.43825	L	2.36	0.16089	T	-1.73	0.41046	N	0.299	0.33796	-1.0749	0.08369	T	0.033	0.14290	T	10	0.24231541	0.41425	T	0.006335	0.16639	T	0.049	0.13647	0.27	0.21893	0.138757226776	0.13463	0.5193158588637525	0.51854	0.814098478581	0.66863	0.759120702744	0.75799	T	0.589346	0.86673	D	-0.247526	0.14404	T	-0.59333	0.13380	T	0.7932049036026	0.45900	D	0.885811	0.61165	D	0.2122582	0.43572	0.26008326	0.51767	0.2122582	0.43572	0.26008326	0.51766	-3.557	0.17239	T	.	.	0.142	0.31177	B	.	.	4.345984	0.66707	25.0	0.99770152349359653	0.85834	0.95598	0.65363	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.999999971519615	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.36	4.5	0.54382	3.035000	0.49449	11.610000	0.93539	0.676000	0.76740	0.982000	0.35529	1.000000	0.68203	1.000000	0.97212	0.0948:0.0:0.9052:0.0	10.422	0.43544	36	0.98055	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	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	0/1:31,11:42:36:36,0,477	3	0	3	1
chrX	50607408	50607408	G	A	exonic	SHROOM4	.	nonsynonymous SNV	SHROOM4:NM_020717:exon6:c.C3734T:p.S1245L	.	3	1501	13	5	0	23	0.00760331	.	.	.	135758	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.078	.	0.0028	0.0455629	0.0198	0.0014	0.0003	0.2134	0.0080	0.0028	0.0244	0.0106	0.0171343	2649	154602	rs12689863	0.0087	0.0087	0.0086	0.0089	0.2003	0.0086	0.0085	0.1961	0.1944	0.0008	0.0002	0	0.2003	0.0073	0.0088	0.0020	0.0171	0.0130	0.0088	0.0092	0.0087	0.0091	0.2059	0.0084	0.0082	0.1934	0.1884	0.0016	0	0.0016	0	0.2059	0.0072	0	0.0021	0.0080	0.0134	0.014	0.55530	D	0.325	0.42614	T	0.448	0.36030	B	0.102	0.30857	B	0.324988	0.14208	N	0.644220	0.999958	0.19072	P	1.1	0.28011	L	2.86	0.15145	T	-0.9	0.25332	N	0.193	0.21188	-1.0102	0.26854	T	0.000	0.00075	T	9	0.0011920631	0.00013	T	.	.	.	0.078	0.22779	.	.	.	.	0.2656513934785834	0.26478	0.229262324409	0.25486	0.416584044695	0.27367	T	0.010154	0.09196	T	-0.682457	0.00046	T	-0.609258	0.12045	T	0.0151797342808891	0.00332	T	0.810419	0.47040	T	0.1263741	0.29601	0.16902532	0.38906	0.10865076	0.25689	0.17445233	0.39841	-3.84	0.21403	T	.	.	0.095	0.15206	B	.;.;.	.;.;.	2.437309	0.31360	18.72	0.9137041917129346	0.20635	0.80443	0.40079	D	AEFBI	.	.	.	.	.	.	.	.	.	0.998965970584086	0.38084	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.36	4.36	0.51643	3.722000	0.54675	5.651000	0.49183	0.676000	0.76740	0.953000	0.33222	1.000000	0.68203	0.545000	0.30055	0.0:0.0:1.0:0.0	11.244	0.48216	799	0.44747	Apx/Shrm Domain 2;Apx/Shrm Domain 2;.	.	.	.	.	.	Likely benign	0	0	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	0.011757	0.000000	0.005566	0.023715	0.000000	0.000000	0.004425	0.036842	0.08333	602.27	57	chrX	50607408	.	G	A	602.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.143;DP=215;ExcessHet=0;FS=3.72;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.57;ReadPosRankSum=-0.04;SOR=1.302	GT:AD:DP:GQ:PL	0/1:30,27:57:99:612,0,698	5	0	1	1
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	0/1:90,366:456:99:10013,0,1121	0	2	5	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	0/1:90,265:363:99:7316,0,1522	0	0	7	0
chrX	55146242	55146242	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G193A:p.G65S,FAM104B:NM_001166700:exon3:c.G193A:p.G65S,FAM104B:NM_001166701:exon3:c.G190A:p.G64S,FAM104B:NM_001166702:exon3:c.G181A:p.G61S,FAM104B:NM_001166703:exon3:c.G187A:p.G63S,FAM104B:NM_138362:exon3:c.G190A:p.G64S	.	381	695	446	0	0	446	0.242919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.00575512673883	.	.	1.14e-05	0	0	0	0	0	0	9.881e-05	0.0002199	34	154602	rs751109928	9.107e-07	9.105e-07	1.361e-06	0	1.847e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.847e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.496	0.08685	T	0.847	0.04029	T	0.988	0.62325	D	0.931	0.76916	D	0.181380	0.17093	N	0.523101	1	0.08975	N	-0.405	0.02972	N	1.06	0.39781	T	0.88	0.01688	N	0.111	0.10340	-1.0096	0.27043	T	0.074	0.29897	T	10	0.024912208	0.00703	T	0.005755	0.14922	T	0.094	0.27141	0.117	0.02508	0.124217242631	0.12060	0.06545832632961472	0.06484	0.113139730866	0.12771	0.240586742759	0.02843	T	0.003551	0.02960	T	-0.539992	0.00335	T	-0.863145	0.00810	T	0.0237543456519899	0.01114	T	0.722728	0.37993	T	0.05084061	0.09248	0.06469397	0.13002	0.05084061	0.09248	0.06469397	0.13002	-2.72	0.09386	T	.	.	0.081	0.08176	B	.;.;.;.;.	.;.;.;.;.	0.646134	0.10147	6.889	0.73921017372164155	0.10504	0.01488	0.04944	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999986279423699	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	0.436	0.15762	0.673000	0.24883	0.315000	0.17124	-0.343000	0.05659	0.980000	0.35271	0.000000	0.08366	0.977000	0.56843	0.0:0.3059:0.0:0.6941	2.954	0.05513	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2857	6361.13	283	chrX	55146242	.	C	T	6361.13	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-0.016;DP=2488;ExcessHet=2.5225;FS=0;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=4.22;ReadPosRankSum=0.945;SOR=0.691	GT:AD:DP:GQ:PL	0/1:189,94:283:99:2199,0,6043	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	0/1:72,167:239:99:5150,0,1615	0	0	7	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	0/1:51,133:184:99:3994,0,1051	0	0	7	0
chrX	74591904	74591904	A	G	exonic	RLIM	.	nonsynonymous SNV	RLIM:NM_016120:exon4:c.T1411C:p.S471P,RLIM:NM_183353:exon5:c.T1411C:p.S471P	Mental retardation, X-linked 61, X-linked recessive	9	1217	293	0	3	296	0.107444	.	.	.	706313	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.240	.	.	.	0.0029	0.0116	0.0005	0	0.0003	0.0029	0	0.0019	0.0113453	1754	154602	rs201164156	0.0008	0.0027	0.0011	0	0.0013	0.0007	0.0007	0.0009	0.0008	0.0013	0.0003	0.0003	0.0002	0.0021	0.0008	0.0008	0.0009	0.0001	0.0005	0.0047	0.0008	0	0.0009	0.0004	0.0004	0.0004	0.0003	0.0006	0	0.0005	0.0004	0.0009	0.0005	0	0.0005	0.0007	0.0004	0.21	0.19639	T	0.328	0.18675	T	0.842	0.46562	P	0.1	0.30674	B	0.514165	0.11812	U	0.638142	1	0.08975	N	1.7	0.43825	L	-1.96	0.85091	D	-0.25	0.11008	N	0.207	0.22998	-0.7951	0.55432	T	0.216	0.57836	T	10	0.006244242	0.00141	T	.	.	.	0.240	0.54500	.	.	.	.	0.4665592874844735	0.46574	0.934645105114	0.71975	0.607906699181	0.54020	T	0.132362	0.46240	T	-0.0295646	0.47480	T	-0.280244	0.46779	T	0.0105822094544231	0.00148	T	0.430157	0.11673	T	0.09892091	0.23338	0.13853694	0.33082	0.09892091	0.23338	0.13853694	0.33082	-7.284	0.56081	T	0.3542269034747019	0.45119	0.098	0.16231	B	.;.	.;.	0.643466	0.10120	6.865	0.20867452940731573	0.00770	0.09317	0.15097	N	AEFGBCI	.	.	.	.	.	.	.	.	.	0.920848692020125	0.26649	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.66	0.088	0.13764	0.990000	0.29242	2.406000	0.32617	0.756000	0.94297	0.212000	0.24446	0.201000	0.23571	0.004000	0.06068	0.5962:0.4038:0.0:0.0	3.724	0.07997	99	0.95913	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.100000	0.136054	0.068646	0.102767	0.071429	0.058824	0.132743	0.089474	0.2857	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|1:249,23:272:99:0|1:74591902_T_A:216,0,10366:74591902	3	0	4	0
chrX	108205691	108205691	G	A	exonic	COL4A6	.	nonsynonymous SNV	COL4A6:NM_001287758:exon10:c.C614T:p.P205L,COL4A6:NM_001287759:exon10:c.C614T:p.P205L,COL4A6:NM_001287760:exon10:c.C614T:p.P205L,COL4A6:NM_001847:exon10:c.C617T:p.P206L,COL4A6:NM_033641:exon10:c.C614T:p.P205L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.383	0.113008787574	.	.	2.325e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs756956046	3.661e-06	3.642e-06	1.363e-06	8.359e-06	5.619e-05	8.6e-07	5.8e-07	1.491e-05	8.13e-06	0	0	0	0	0	0	1.192e-06	0	5.619e-05	9.014e-06	8.711e-06	0	3.016e-05	0.0004	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0004	0.443	0.18184	T	0.086	0.41742	T	0.002	0.09854	B	0.004	0.12992	B	.	.	.	.	0.99862	0.81001	D	1.835	0.48228	L	-4.09	0.96627	D	-5.02	0.84742	D	0.369	0.42443	-0.0051	0.82151	T	0.717	0.90305	D	9	0.15357217	0.28985	T	0.113009	0.79136	D	0.383	0.70029	0.38	0.39645	0.639041112121	0.63606	0.25289838273797527	0.25203	0.183091307075	0.20593	0.438280373812	0.30342	T	0.784974	0.94358	D	-0.043984	0.45355	T	-0.0856215	0.64489	T	0.119827660451313	0.14413	T	0.718628	0.33902	T	0.12769578	0.29875	0.31535402	0.57522	0.12769578	0.29874	0.31535402	0.57521	-4.638	0.32732	T	.	.	0.063	0.02639	B	.;.;.;.;.;.	.;.;.;.;.;.	1.777403	0.22601	15.69	0.82375005826246361	0.14159	0.79144	0.39163	D	AEFBI	.	.	.	.	.	.	.	.	.	0.313626820070507	0.19313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.01	3.24	0.36257	2.036000	0.40786	4.395000	0.43227	-0.127000	0.13314	1.000000	0.71638	1.000000	0.68203	0.921000	0.45669	0.2116:0.0:0.7884:0.0	7.447	0.26388	113	0.95418	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	31.57	16	chrX	108205691	.	G	A	31.57	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.005;DP=95;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=1.97;ReadPosRankSum=-2.145;SOR=0.473	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:14,2:16:42:0|1:108205687_T_C:42,0,582:108205687	6	0	1	0
chrX	115306666	115306686	CACTCAGAGAGATCTCATAGT	-	exonic	LUZP4	.	nonframeshift deletion	LUZP4:NM_001318840:exon3:c.558_578del:p.I192_L198del,LUZP4:NM_016383:exon4:c.804_824del:p.I274_L280del	.	442	1078	0	2	0	4	0.00185185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0112	.	0.0008	0.0022	0.0005	0	0.0002	0.0007	0.0032	0.0010	.	.	.	rs781838275	0.0008	0.0008	0.0007	0.0008	0.0047	0.0007	0.0007	0.0031	0.0026	0.0024	0.0010	5.185e-05	0	0.0003	0.0047	0.0007	0.0014	0.0014	0.0012	0.0013	0.0013	0.0007	0.0023	0.0010	0.0009	0.0019	0.0017	0.0023	0	0.0012	0	0.0003	0.0005	0.0051	0.0006	0.0048	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	566.23	33	chrX	115306665	.	CCACTCAGAGAGATCTCATAGT	C	566.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.09;DP=206;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.16;ReadPosRankSum=-1.749;SOR=0.836	GT:AD:DP:GQ:PL	0/1:17,16:33:99:576,0,579	5	0	1	1
chrX	119096690	119096690	C	T	exonic	KIAA1210	.	nonsynonymous SNV	KIAA1210:NM_020721:exon8:c.G1070A:p.S357N	.	435	1061	18	8	0	34	0.0157699	0	0.044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	.	0.0024	0.00317881	0.0039	0.0002	0.0042	0	0.0010	0.0039	0.0027	0.0123	0.0028525	441	154602	rs182311514	0.0028	0.0028	0.0026	0.0032	0.0098	0.0027	0.0027	0.0091	0.0088	0.0002	0.0021	0.0130	3.364e-05	0.0003	0.0097	0.0024	0.0037	0.0098	0.0025	0.0027	0.0024	0.0027	0.0099	0.0022	0.0021	0.0069	0.0060	0.0003	0.0654	0.0017	0.0091	0.0003	0.0007	0.0092	0.0027	0.0026	0.0099	0.174	0.22486	T	0.238	0.24549	T	0.27	0.31762	B	0.086	0.29521	B	.	.	.	.	1	0.81001	D	1.54	0.38927	L	2.54	0.13916	T	-0.75	0.21003	N	0.028	0.00618	-0.9330	0.43695	T	0.013	0.04843	T	9	0.0036037862	0.00065	T	.	.	.	0.023	0.04649	.	.	0.256283259241	0.25257	0.1549982947328024	0.15420	0.0445709516192	0.04814	0.345253974199	0.17220	T	0.012459	0.10945	T	-0.904064	0.00000	T	-1.06557	0.00051	T	0.00257594705588329	0.00027	T	0.324568	0.06628	T	0.13355963	0.31060	0.1253177	0.30197	0.13355963	0.31060	0.1253177	0.30196	-5.115	0.38065	T	.	.	0.117	0.23814	B	.	.	-0.018815	0.04155	0.996	0.94259610666449478	0.24538	0.00921	0.03583	N	AEFBI	.	.	.	.	.	.	.	.	.	0.020656159714741	0.13278	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.47	-1.04	0.09555	0.007000	0.13074	0.124000	0.14956	-0.773000	0.03420	0.048000	0.21332	0.008000	0.19753	0.007000	0.07825	0.1872:0.3246:0.0:0.4882	3.538	0.07356	526	0.73951	Domain of unknown function DUF4592	.	.	.	.	.	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	0.006211	0.000000	0.003711	0.008000	0.000000	0.023529	0.004425	0.010526	0.07143	1447.44	89	chrX	119096690	.	C	T	1447.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.722;DP=262;ExcessHet=0;FS=1.82;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.26;ReadPosRankSum=0.941;SOR=0.972	GT:AD:DP:GQ:PL	0/1:37,52:89:99:1458,0,867	6	0	1	0
chrX	120109245	120109245	C	T	exonic	RHOXF1	.	nonsynonymous SNV	RHOXF1:NM_139282:exon3:c.G502A:p.A168T	.	431	1089	1	1	0	3	0.00137552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.0160584967992	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1484612375	1.84e-05	1.912e-05	1.364e-05	2.827e-05	0.0002	1.202e-05	9.77e-06	1.349e-05	1.113e-05	0	0	0	0	0	0.0002	2.159e-05	0	1.908e-05	8.989e-06	8.71e-06	1.285e-05	0	3.268e-05	0	0	.	.	3.268e-05	0	0	0	0	0	0	0	0	0	0.111	0.29029	T	0.233	0.24913	T	0.256	0.31372	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	0.925	0.23481	L	-2.74	0.90735	D	-0.82	0.22508	N	0.024	0.00445	-0.6290	0.63613	T	0.428	0.77068	T	9	0.0668208	0.09221	T	0.016058	0.37127	T	0.068	0.19811	0.304	0.27325	0.340919117937	0.33698	0.341589160300983	0.34071	0.262393908141	0.28800	0.250452697277	0.03816	T	0.035823	0.23866	T	-0.312796	0.07504	T	-0.687086	0.06559	T	0.0479592462445096	0.05137	T	0.381062	0.09207	T	0.049024027	0.08640	0.08214032	0.18722	0.049024027	0.08639	0.08214032	0.18722	-4.781	0.34369	T	.	.	0.123	0.25624	B	.	.	-0.798960	0.01109	0.050	0.9342164212506856	0.23189	0.00091	0.00603	N	AEFI	.	.	.	.	.	.	.	.	.	4.80104337279499E-5	0.03989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.14	0.554	0.16430	-0.934000	0.04063	-2.659000	0.03497	-0.313000	0.06017	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.199:0.303:0.498	2.717	0.04869	900	0.24599	.	.	.	.	.	.	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	0.002759	0.000000	0.003711	0.000000	0.000000	0.000000	0.004425	0.005263	0.08333	464.27	39	chrX	120109245	.	C	T	464.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.626;DP=197;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.9;ReadPosRankSum=-1.617;SOR=0.602	GT:AD:DP:GQ:PL	0/1:19,20:39:99:474,0,460	5	0	1	1
chrX	135580144	135580144	G	C	exonic	INTS6L	.	nonsynonymous SNV	INTS6L:NM_001351603:exon15:c.G2365C:p.V789L,INTS6L:NM_001351604:exon15:c.G2233C:p.V745L,INTS6L:NM_001351605:exon15:c.G2233C:p.V745L,INTS6L:NM_001351606:exon15:c.G1639C:p.V547L,INTS6L:NM_182540:exon15:c.G2365C:p.V789L,INTS6L:NM_001351601:exon16:c.G2476C:p.V826L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.320721839563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	9.106e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.33254	T	0.144	0.33109	T	0.054	0.22658	B	0.016	0.17743	B	0.000000	0.84330	D	0.000000	0.998439	0.44913	D	.	.	.	1.12	0.38718	T	-1.47	0.35991	N	0.585	0.60579	-0.8446	0.52338	T	0.185	0.53376	T	10	0.3336386	0.50551	T	0.320722	0.91466	D	0.116	0.32463	0.358	0.36060	0.707954595072	0.70541	0.7275652152813423	0.72700	1.18866698664	0.80215	0.648726463318	0.59806	T	0.054	0.29627	T	0.00945918	0.52950	T	-0.224189	0.52332	T	0.882806301116943	0.53294	D	0.539346	0.18229	T	0.6511502	0.75426	0.50532985	0.71408	0.6511502	0.75427	0.50532985	0.71409	-8.677	0.65596	D	.	.	0.978	0.90664	P	.;.	.;.	3.376911	0.46690	22.3	0.98498159316290479	0.42180	0.97707	0.76556	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.999999042486774	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.88	4.88	0.63131	4.677000	0.61324	5.234000	0.48040	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	16.741	0.85319	91	0.96221	INTS6/SAGE1/DDX26B/CT45, C-terminal;INTS6/SAGE1/DDX26B/CT45, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	221.61	46	chrX	135580144	.	G	C	221.61	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-1.167;DP=355;ExcessHet=3.1439;FS=347.102;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=0.93;ReadPosRankSum=0.164;SOR=9.383	GT:AD:DP:GQ:PL	0/1:29,12:46:6:6,0,360	2	0	4	1
chrX	135901671	135901671	C	T	exonic	SAGE1	.	nonsynonymous SNV	SAGE1:NM_001381902:exon3:c.C200T:p.S67L,SAGE1:NM_018666:exon3:c.C200T:p.S67L	.	425	1080	9	8	0	25	0.0114416	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	.	0.0059	0.00450331	0.0081	0.0012	0.0057	0	0.0077	0.0103	0.0049	0.0116	0.0072832	1126	154602	rs143643223	0.0086	0.0086	0.0085	0.0088	0.0108	0.0084	0.0084	0.0101	0.0098	0.0013	0.0052	0.0129	3.318e-05	0.0084	0.0085	0.0090	0.0082	0.0108	0.0057	0.0058	0.0057	0.0055	0.0112	0.0053	0.0051	0.0081	0.0070	0.0011	0.0029	0.0062	0.0124	0.0006	0.0070	0	0.0078	0.0066	0.0112	0.825	0.02921	T	1.0	0.01155	T	0.0	0.12183	B	0.0	0.04355	B	0.000172	0.48594	N	0.136757	1	0.08975	N	-0.55	0.02420	N	1.51	0.30937	T	0.26	0.04380	N	0.046	0.03392	-1.0543	0.13225	T	0.017	0.06807	T	10	0.0046487153	0.00097	T	.	.	.	0.039	0.10176	.	.	0.195762928549	0.19159	0.004705424765767787	0.00443	.	.	0.245691627264	0.03328	T	0.001809	0.01403	T	-0.942697	0.00000	T	-1.1175	0.00019	T	0.00177517519927836	0.00018	T	0.374163	0.08891	T	0.027866019	0.02039	0.047462787	0.06840	0.027866019	0.02039	0.047462787	0.06840	-4.531	0.31292	T	.	.	0.053	0.00254	B	.;.;.	.;.;.	-1.417698	0.00348	0.006	0.12362820853464315	0.00212	0.00013	0.00170	N	AEFI	.	.	.	.	.	.	.	.	.	3.18483205343529E-4	0.06498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.33	-2.67	0.05703	-1.851000	0.01761	-20.000000	0.00162	-0.580000	0.04711	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.0:0.5721:0.0:0.4279	5.011	0.13656	151	0.94052	.;.;.	.	.	.	.	.	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	0.006954	0.013699	0.005587	0.000000	0.000000	0.000000	0.013575	0.010695	0.07143	1596.45	100	chrX	135901671	.	C	T	1596.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.475;DP=281;ExcessHet=0;FS=2.701;MLEAC=1;MLEAF=0.071;MQ=59.6;MQRankSum=-1.579;QD=15.96;ReadPosRankSum=-1.023;SOR=0.452	GT:AD:DP:GQ:PL	0/1:38,62:100:99:1607,0,853	6	0	1	0
chrX	139965441	139965441	G	T	exonic	CXorf66	.	nonsynonymous SNV	CXorf66:NM_001013403:exon1:c.C56A:p.T19N	.	443	1077	1	1	0	3	0.00139082	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00258972176968	.	.	4.57e-05	0	0	0	0	2.087e-05	0.0016	0.0002	3.23e-05	5	154602	rs779039398	4.475e-05	4.644e-05	3.814e-05	5.818e-05	0.0004	3.425e-05	3.085e-05	0.0002	0.0002	0	0	0	0	0	0	3.095e-05	8.707e-05	0.0004	2.694e-05	2.613e-05	3.856e-05	0	5.644e-05	7.16e-06	2.99e-06	1.497e-05	8.15e-06	0	0	0	0	0	0	0	5.644e-05	0	0	0.879	0.02550	T	1.0	0.01155	T	0.002	0.09854	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-1.32	0.00691	N	0.9	0.45248	T	1.78	0.00525	N	0.032	0.00825	-1.0152	0.25272	T	0.040	0.17149	T	8	0.023298353	0.00605	T	0.00259	0.05235	T	0.019	0.03383	0.199	0.11247	0.115124310173	0.11017	0.12270645830944632	0.12196	0.0914627460255	0.10332	.	.	.	0.001968	0.01375	T	-0.803995	0.00007	T	-1.08028	0.00040	T	0.0172339910884929	0.00465	T	0.291471	0.05330	T	0.047640383	0.08174	0.07758561	0.17296	0.047640383	0.08174	0.07758561	0.17296	-4.045	0.24474	T	.	.	0.073	0.04517	B	.	.	-0.390362	0.02248	0.230	0.11268322550811269	0.00165	0.00131	0.00809	N	AEFI	.	.	.	.	.	.	.	.	.	0.0431529707504823	0.14558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.67	1.19	0.20120	0.570000	0.23357	1.288000	0.25394	-0.124000	0.13482	0.001000	0.13787	0.004000	0.18990	0.128000	0.19490	0.0:0.1313:0.2396:0.6291	3.422	0.06969	987	0.02648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	630.44	80	chrX	139965441	.	G	T	630.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.636;DP=253;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.88;ReadPosRankSum=1;SOR=0.76	GT:AD:DP:GQ:PL	0/1:49,31:80:99:641,0,1108	6	0	1	0
chrY	5100547	5100547	T	C	exonic	PCDH11Y	.	nonsynonymous SNV	PCDH11Y:NM_032972:exon2:c.T2969C:p.L990S,PCDH11Y:NM_032973:exon2:c.T2969C:p.L990S,PCDH11Y:NM_032971:exon5:c.T2936C:p.L979S,PCDH11Y:NM_001278619:exon6:c.T2936C:p.L979S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47319508674	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs2563388	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.311	0.13971	T	0.428	0.13792	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.999959	0.19072	N	-2.175	0.00131	N	1.66	0.27486	T	1.23	0.01037	N	0.123	0.24758	.	.	.	.	.	.	.	0.15112364	0.28570	T	0.473195	0.94715	D	.	.	.	.	0.873511691953	0.87228	0.10591350804350975	0.10521	0.385420460955	0.39836	.	.	.	0.002492	0.01884	T	-0.303863	0.08300	T	-0.674255	0.07338	T	.	.	.	0.0317968	0.00203	T	0.13257147	0.30865	0.36686116	0.62007	0.13257147	0.30865	0.36686116	0.62007	-0.258	0.01056	T	.	.	0.051	0.00211	B	.;.;.;.;.	.;.;.;.;.	1.562795	0.20018	14.55	0.28002880445386391	0.01417	0.09053	0.14884	N	AEF	.	.	.	.	.	.	.	.	.	1.00417689864453E-5	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.35	1.45	0.21708	2.322000	0.43474	1.186000	0.24731	-0.715000	0.03906	1.000000	0.71638	0.996000	0.32793	0.855000	0.40485	.	.	.	.	.	.;.;.;.;Protocadherin	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.25	496.11	16	chrY	5100547	.	T	C	496.11	.	AC=2;AF=0.25;AN=8;DP=228;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.375;MQ=29.11;QD=31.01;SOR=5.67	GT:AD:DP:GQ:PL	1/1:0,16:16:48:511,48,0	3	1	0	3