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	NSWES948	WT	HH	HZ	NC
chr1	979831	979831	G	A	exonic	PERM1	.	nonsynonymous SNV	PERM1:NM_001369898:exon1:c.C1199T:p.A400V,PERM1:NM_001291366:exon2:c.C1199T:p.A400V,PERM1:NM_001369897:exon2:c.C1199T:p.A400V,PERM1:NM_001291367:exon3:c.C857T:p.A286V	.	429	1087	6	0	0	6	0.00275229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.0185273084156	.	0.000599042	0.0017	0	0	0	0.0007	0.0013	0.0051	0.0023	0.0002329	36	154602	rs577120404	0.0009	0.0008	0.0008	0.0010	0.0024	0.0008	0.0008	0.0021	0.0020	0.0002	0.0001	0.0023	0	0.0015	0.0011	0.0008	0.0006	0.0024	0.0007	0.0007	0.0007	0.0008	0.0023	0.0006	0.0006	0.0013	0.0010	4.808e-05	0	0	0.0023	0	0.0020	0.0034	0.0010	0.0005	0.0023	0.029	0.45756	D	0.073	0.43913	T	.	.	.	.	.	.	0.637774	0.10627	U	0.721314	1	0.08975	N	.	.	.	0.97	0.42502	T	-1.42	0.34992	N	0.222	0.24883	-0.9927	0.31906	T	0.087	0.33830	T	9	0.005650878	0.00125	T	0.018527	0.40624	T	0.026	0.05648	.	.	0.0482279557977	0.04254	0.12155043505038945	0.12082	.	.	.	.	.	0.029361	0.21058	T	-0.642163	0.00081	T	-0.700437	0.05802	T	0.0140976008727006	0.00274	T	0.371963	0.10281	T	0.02111979	0.00699	0.06434521	0.12881	0.02111979	0.00698	0.06434521	0.12881	-5.786	0.46522	T	.	.	0.116	0.23500	B	.;.	.;.	0.896959	0.12707	9.228	0.98901071050071854	0.48181	0.15022	0.18705	N	AEFDBCI	0.079958	0.16159	N	-1.0085836735568	0.08424	0.3949748	-1.06137548402993	0.08470	0.4166884	0.995574168383274	0.34201	0.517182	0.21443	0	0.59043	0.45803	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	3.52	2.6	0.30173	2.730000	0.47007	.	.	-1.241000	0.01314	0.232000	0.24664	0.105000	0.22724	0.002000	0.04165	0.1118:0.0:0.8882:0.0	9.100	0.35826	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	.	.	.	.	.	.	.	.	0.05263	8219.81	108	chr1	979831	.	G	A	8219.81	.	AC=2;AF=0.053;AN=38;DP=1937;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=34.55;SOR=1.548	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,191:191:99:1|1:979831_G_A:8247,575,0:979831	18	1	0	0
chr1	1295823	1295823	G	A	exonic	ACAP3	.	nonsynonymous SNV	ACAP3:NM_030649:exon18:c.C1618T:p.R540W	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.245	0.102389005156	7.7e-05	.	0.0002	0	0	0.0001	0	6.229e-05	0	0.0010	0.0001423	22	154602	rs143854090	7.817e-05	8.209e-05	4.913e-05	0.0001	0.0010	6.615e-05	6.157e-05	0.0008	0.0007	2.987e-05	0	0	2.519e-05	0	0.0003	2.069e-05	4.971e-05	0.0010	5.256e-05	5.253e-05	3.854e-05	6.724e-05	0.0006	2.557e-05	1.83e-05	0.0002	8.977e-05	2.412e-05	0	0	0	0	0	0	5.881e-05	0	0.0006	0.001	0.78490	D	0.003	0.79402	D	0.998	0.90584	D	0.644	0.63631	P	0.606607	0.05677	N	1.254730	0.557505	0.37803	D	2.16	0.60381	M	1.52	0.30669	T	-2.87	0.66325	D	0.371	0.49237	-0.9915	0.32218	T	0.130	0.43907	T	10	0.15324163	0.28930	T	0.102389	0.77582	D	0.245	0.55201	.	.	0.289847578895	0.28608	0.5726682340490865	0.57194	0.733661856495	0.62852	0.559488296509	0.47196	T	0.32043	0.69162	T	-0.156705	0.27268	T	-0.0542205	0.66733	D	0.143227041010245	0.16550	T	0.90281	0.66017	D	0.12505588	0.29325	0.1239105	0.29872	0.12505588	0.29325	0.1239105	0.29872	-5.43	0.41207	T	.	.	0.116	0.30157	B	.;.	.;.	3.703851	0.52842	23.3	0.99886737203690235	0.96204	0.51793	0.28979	D	AEFBI	0.473984	0.51844	N	-0.0507677593760517	0.39568	2.335475	-0.153137880434177	0.33288	1.902582	0.22260515726993	0.18373	0.634777	0.41761	0	0.643519	0.57511	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	4.7	3.74	0.42108	0.334000	0.19529	2.572000	0.33370	-0.247000	0.07223	0.000000	0.06391	0.963000	0.29397	0.001000	0.02609	0.0:0.0:0.7201:0.2799	13.401	0.60327	779	0.47767	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	2952.81	34	chr1	1295823	.	G	A	2952.81	.	AC=2;AF=0.053;AN=38;DP=732;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=32.1;SOR=1.216	GT:AD:DP:GQ:PL	1/1:0,92:92:99:2980,276,0	18	1	0	0
chr1	3836493	3836493	A	C	splicing	CEP104	NM_014704:exon10:c.1317+2T>G	.	.	Joubert syndrome 25, Autosomal recessive	.	.	.	.	.	.	.	1.0000	0.96	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.735e-05	6.102e-05	3.846e-05	3.617e-05	0.0004	2.688e-05	2.371e-05	0.0002	0.0002	7.327e-05	7.78e-05	0.0003	0	0	0	1.969e-05	5.547e-05	0.0004	5.197e-05	0.0006	0.0001	0	0.0002	0	0	.	.	0.0002	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	4.591722	0.72633	25.9	0.99213772171432246	0.55685	0.99525	0.97065	D	AEFDBI	.	.	.	1.04252772716544	0.96910	15.31459	0.857870838013166	0.93466	12.06219	0.999999134379761	0.74766	0.163922	0.03765	0	0.156668	0.03792	0	0.060301	0.00762	0	0.117559	0.03655	0	0.948117	0.61440	5.68	5.68	0.88021	8.725000	0.91200	10.879000	0.84044	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.393000	0.26625	1.0:0.0:0.0:0.0	15.110	0.72020	982	0.03397	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.15	307.41	39	chr1	3836493	.	A	C	307.41	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-1.875;DP=849;ExcessHet=0.3672;FS=48.286;InbreedingCoeff=-0.2465;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=2.21;ReadPosRankSum=2.52;SOR=3.55	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:38,7:45:59:0|1:3836468_G_GT:59,0,983:3836468	7	0	3	9
chr1	7933282	7933282	T	C	exonic	TNFRSF9	.	nonsynonymous SNV	TNFRSF9:NM_001561:exon7:c.A559G:p.I187V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00270495129526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.06147	T	0.002	0.09854	B	0.001	0.04355	B	0.030551	0.01722	N	2.226600	1	0.08975	N	0.22	0.09567	N	3.34	0.38883	T	-0.08	0.08187	N	0.064	0.03613	-0.9649	0.38230	T	0.008	0.02926	T	10	0.039113462	0.02377	T	0.002705	0.05550	T	0.009	0.00846	0.276	0.22845	0.0954503805726	0.09146	0.14244755294639133	0.14167	0.0755766024316	0.08479	0.303215026855	0.10881	T	0.091535	0.38816	T	-0.396887	0.02426	T	-0.807877	0.01713	T	0.0528059709509316	0.05985	T	0.343166	0.08297	T	0.014398486	0.00092	0.024658427	0.00489	0.014398486	0.00092	0.024658427	0.00489	-3.107	0.11376	T	.	.	0.082	0.20117	B	.;.;.	.;.;.	-2.656894	0.00022	0.001	0.31864493878579497	0.01817	0.00640	0.02800	N	AEFBI	0.053752	0.09712	N	-1.55403076293908	0.01511	0.06599016	-1.62642963533454	0.01502	0.06801238	0.1723792661722	0.17755	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.43	-6.6	0.01657	-4.246000	0.00304	-7.248000	0.01198	-0.123000	0.13640	0.000000	0.06391	0.000000	0.08366	0.131000	0.19607	0.269:0.3775:0.1367:0.2167	1.562	0.02441	804	0.43891	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3438	775.38	34	chr1	7933282	.	T	C	775.38	.	AC=11;AF=0.344;AN=32;BaseQRankSum=-1.376;DP=684;ExcessHet=9.6465;FS=107.214;InbreedingCoeff=-0.4822;MLEAC=12;MLEAF=0.375;MQ=60;MQRankSum=0;QD=1.79;ReadPosRankSum=0.717;SOR=9.203	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:24,11:35:91:.:.:91,0,472:.	5	0	11	3
chr1	10326244	10326244	G	C	exonic	KIF1B	.	nonsynonymous SNV	KIF1B:NM_015074:exon25:c.G2671C:p.E891Q,KIF1B:NM_001365951:exon27:c.G2809C:p.E937Q,KIF1B:NM_001365952:exon27:c.G2809C:p.E937Q	Pheochromocytoma, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.290	0.0482880192528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.841e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.37326	T	0.212	0.26549	T	0.989	0.62824	D	0.969	0.72001	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.765	0.45800	L	-0.82	0.75001	T	-1.39	0.36787	N	0.734	0.75009	-0.1696	0.78438	T	0.498	0.81014	T	10	0.6018709	0.66958	D	0.048288	0.63305	D	0.290	0.60924	0.219	0.14078	0.749556767029	0.74729	0.6982153262634863	0.69762	1.23630627734	0.81476	0.814065039158	0.84115	D	0.345935	0.71426	T	0.119299	0.66301	D	-0.0664114	0.65882	T	0.84802782535553	0.49996	D	0.984102	0.94582	D	0.2858203	0.51601	0.27822828	0.53781	0.2858203	0.51601	0.27822828	0.53780	-10.724	0.78968	D	.	.	0.374	0.62311	A	.;.;.;.;.	.;.;.;.;.	5.279577	0.88650	29.7	0.99699751426161221	0.80522	0.99370	0.95141	D	AEFGBI	0.891753	0.82802	D	0.588017507858634	0.72425	5.803883	0.669916851634812	0.80102	7.224664	0.999999999999494	0.74766	0.562547	0.31514	0	0.546412	0.12157	0	0.608884	0.39905	0	0.491896	0.07777	0	.	.	5.6	5.6	0.84997	9.602000	0.97623	11.794000	0.96459	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.620	0.95646	229	0.91079	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3158	12694.9	247	chr1	10326244	.	G	C	12694.9	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-6.862;DP=3403;ExcessHet=11.1788;FS=253.081;InbreedingCoeff=-0.4616;MLEAC=12;MLEAF=0.316;MQ=60;MQRankSum=0;QD=4.93;ReadPosRankSum=1.26;SOR=13.474	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:156,60:216:99:0|1:10326244_G_C:813,0,5435:10326244	7	0	12	0
chr1	13369191	13369191	C	T	exonic	PRAMEF19	.	nonsynonymous SNV	PRAMEF19:NM_001099790:exon3:c.G1316A:p.R439H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.001177790889	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs758393659	7.33e-05	7.593e-05	7.77e-05	6.886e-05	0.0006	6.19e-05	5.75e-05	0.0004	0.0003	0.0006	2.236e-05	0	0.0002	0	0.0002	6.476e-05	4.983e-05	1.161e-05	0.0003	0.0003	0.0003	0.0002	0.0009	0.0002	0.0002	0.0007	0.0006	0.0009	0	0	0	0	0	0	2.94e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.009179	0.01232	N	2.829510	1	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	-0.9819	0.34561	T	0.148	0.47344	T	10	0.13940114	0.26505	T	0.003498	0.07939	T	0.034	0.08419	0.369	0.37850	0.082315109003	0.07666	0.10266209795155036	0.10196	.	.	0.584081232548	0.50660	T	0.02554	0.19075	T	-0.437874	0.01331	T	-0.666399	0.07841	T	0.42650380730629	0.29931	T	0.617538	0.23656	T	0.02125981	0.00719	0.01787092	0.00041	0.02125981	0.00719	0.01787092	0.00041	-4.589	0.32033	T	.	.	0.104	0.18705	B	.	.	1.366478	0.17758	13.35	0.99645109834295342	0.76943	0.00029	0.00276	N	AEFI	0.015935	0.00328	N	-0.693975273417859	0.16192	0.822784	-0.983694675877528	0.10151	0.5094611	2.97649616078636E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.09	-2.18	0.06643	-0.864000	0.04362	-7.460000	0.01152	-0.393000	0.05333	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.3087:0.2556:0.0:0.4357	1.501	0.02327	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	.	.	.	.	.	.	.	.	0.02632	5932.33	36	chr1	13369191	.	C	T	5932.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.242;DP=1169;ExcessHet=0;FS=19.865;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.48;MQRankSum=10.55;QD=23.54;ReadPosRankSum=5.67;SOR=0.144	GT:AD:DP:GQ:PL	0/1:45,207:252:99:5946,0,707	18	0	1	0
chr1	15445660	15445660	G	A	exonic	CTRC	.	nonsynonymous SNV	CTRC:NM_007272:exon7:c.G703A:p.V235I	.	415	1086	21	0	0	21	0.00957592	.	.	YES	277389	Hereditary_pancreatitis	MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.797	0.138657935058	7.7e-05	0.00119808	0.0012	9.625e-05	0.0005	0	0	0.0003	0	0.0068	0.0009832	152	154602	rs140993290	0.0007	0.0007	0.0004	0.0009	0.0079	0.0006	0.0006	0.0074	0.0072	0.0003	0.0002	0.0005	0	3.744e-05	0.0050	0.0002	0.0005	0.0079	0.0005	0.0005	0.0003	0.0007	0.0083	0.0004	0.0004	0.0063	0.0056	9.624e-05	0	6.538e-05	0.0014	0.0002	0	0.0034	0.0003	0.0009	0.0083	0.006	0.61437	D	0.007	0.69154	D	0.996	0.68779	D	0.969	0.72001	D	0.000067	0.52346	D	0.126644	0.999064	0.81001	D	1.1	0.28011	L	-3.46	0.94508	D	-0.93	0.24898	N	0.524	0.55366	0.983	0.96904	D	0.897	0.96582	D	10	0.025823325	0.00765	T	0.138658	0.82115	D	0.797	0.93346	.	.	0.824012481446	0.82234	0.5726204761015677	0.57190	0.633953125668	0.57268	0.422646105289	0.28200	T	0.259948	0.63127	T	-0.0207142	0.48752	T	0.201614	0.83215	D	0.0184037413051345	0.00557	T	0.783522	0.42019	T	0.6675369	0.76301	0.7689695	0.86357	0.6858084	0.77285	0.71754605	0.83327	-10.422	0.76398	D	0.3872254015445177	0.48088	0.208	0.43448	B	.	.	4.622077	0.73408	26.0	0.99874658187836918	0.95160	0.96887	0.71481	D	AEFGBI	0.763965	0.70090	D	0.623640137267991	0.74673	6.172706	0.536749447529981	0.70482	5.51161	0.996679899047473	0.34917	0.553676	0.25195	0	0.573888	0.26702	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	4.38	4.38	0.52019	3.662000	0.54249	11.510000	0.92999	0.676000	0.76740	0.936000	0.32490	1.000000	0.68203	0.838000	0.39538	0.0:0.0:1.0:0.0	16.050	0.80559	917	0.20147	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.000000	0.005848	0.000000	0.008621	0.003049	0.003788	0.05263	2642.83	38	chr1	15445660	.	G	A	2642.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.66;DP=916;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.79;ReadPosRankSum=0.496;SOR=0.686	GT:AD:DP:GQ:PL	0/1:60,50:110:99:1225,0,1430	17	0	2	0
chr1	15493953	15493953	G	T	exonic	CASP9	.	nonsynonymous SNV	CASP9:NM_001278054:exon4:c.C647A:p.T216N,CASP9:NM_001229:exon8:c.C1097A:p.T366N,CASP9:NM_032996:exon8:c.C848A:p.T283N	.	412	1101	8	1	0	10	0.0045208	.	.	.	706709	CASP9-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.173	.	0.0081	0.00858626	0.0047	0.0395	0.0016	0	0	0.0005	0.0063	0.0029	0.002639	408	154602	rs61738967	0.0012	0.0012	0.0012	0.0011	0.0282	0.0011	0.0011	0.0267	0.0261	0.0282	0.0015	0	0	0	0.0026	0.0003	0.0022	0.0027	0.0086	0.0086	0.0088	0.0084	0.0285	0.0082	0.0081	0.0272	0.0266	0.0285	0	0.0051	0	0	0	0	0.0004	0.0071	0.0008	0.13	0.27194	T	0.105	0.38596	T	0.875	0.48103	P	0.614	0.60933	P	0.000109	0.50451	D	0.235454	0.997924	0.44325	D	2.37	0.68279	M	2.12	0.19726	T	-2.94	0.61435	D	0.591	0.70615	-1.1638	0.00668	T	0.050	0.21456	T	10	0.013510019	0.00286	T	.	.	.	0.173	0.43840	.	.	0.778309633265	0.77626	0.7111466994424631	0.71056	0.380450103368	0.39413	0.551267981529	0.46036	T	0.188661	0.54265	T	-0.452092	0.01098	T	-0.400545	0.33322	T	0.0578574189594973	0.06826	T	0.848915	0.65538	T	0.59733635	0.72548	0.5012591	0.71167	0.59733635	0.72549	0.5012591	0.71168	-9.567	0.71276	D	.	.	0.178	0.45396	B	.;.;.;.	.;.;.;.	3.708180	0.52926	23.3	0.99258442626400667	0.57121	0.96113	0.67592	D	AEFBI	0.577018	0.57878	D	0.419055479534913	0.62469	4.463465	0.421336423230595	0.62895	4.513079	0.991154779706463	0.32391	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.563494	0.21769	0	.	.	5.7	5.7	0.88690	2.599000	0.45895	6.574000	0.55976	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.335000	0.25317	0.086:0.0:0.914:0.0	10.720	0.45230	922	0.19044	Peptidase C14, caspase non-catalytic subunit p10|Peptidase C14A, caspase catalytic domain|Peptidase C14A, caspase catalytic domain;Peptidase C14, caspase non-catalytic subunit p10|Peptidase C14A, caspase catalytic domain|Peptidase C14A, caspase 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	0	0	1	0	0.006048	0.000000	0.012228	0.000000	0.000000	0.008621	0.006135	0.003788	0.02632	1592.33	34	chr1	15493953	.	G	T	1592.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.149;DP=841;ExcessHet=0;FS=4.973;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=1.16;SOR=1.119	GT:AD:DP:GQ:PL	0/1:83,66:149:99:1606,0,2184	18	0	1	0
chr1	16205994	16205994	C	T	exonic	ARHGEF19	.	nonsynonymous SNV	ARHGEF19:NM_153213:exon8:c.G1388A:p.R463H	.	419	1096	6	1	0	8	0.00363636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.226	0.0671602585065	.	0.000399361	0.0007	0	0.0004	0	0.0055	0.0003	0	0.0020	0.0004204	65	154602	rs201371795	0.0004	0.0004	0.0003	0.0004	0.0014	0.0003	0.0003	0.0012	0.0011	8.969e-05	0.0002	0	2.527e-05	0.0037	0.0010	0.0002	0.0004	0.0014	0.0004	0.0004	0.0003	0.0004	0.0012	0.0003	0.0003	0.0005	0.0004	2.406e-05	0	0.0001	0	0	0.0026	0	0.0002	0.0009	0.0012	0.133	0.29288	T	0.113	0.36901	T	0.989	0.62824	D	0.846	0.60472	P	0.000003	0.62929	D	0.000000	0.999449	0.47080	D	2.655	0.77738	M	1.52	0.62918	T	-4.01	0.74193	D	0.599	0.61764	-0.2574	0.76158	T	0.383	0.73936	T	10	0.012451649	0.00268	T	0.06716	0.70087	D	0.226	0.52472	.	.	0.769486800032	0.76738	0.5544849050595965	0.55375	1.02818934709	0.75339	0.684120178223	0.64861	T	0.07993	0.36243	T	-0.205775	0.19977	T	-0.0984364	0.63519	T	0.176362899980166	0.19003	T	0.924008	0.76468	D	0.34864554	0.56961	0.33399162	0.59230	0.34864554	0.56961	0.33399162	0.59229	-10.708	0.78032	D	.	.	0.161	0.45906	B	.;.	.;.	5.473219	0.91297	32	0.99872357105528553	0.94989	0.85997	0.45199	D	AEFDGBCIJ	0.511407	0.54005	D	0.546880174432717	0.69891	5.422053	0.49847281089448	0.67887	5.144794	0.999999999999578	0.74766	0.608746	0.35421	0	0.627608	0.54475	0	0.26897	0.05253	2	0.605231	0.38476	0	.	.	4.56	4.56	0.55644	1.689000	0.37319	7.680000	0.65243	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.516000	0.29383	0.0:1.0:0.0:0.0	14.828	0.69757	199	0.92292	Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;Dbl homology (DH) domain|Dbl homology (DH) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001008	0.000000	0.002725	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	503.33	35	chr1	16205994	.	C	T	503.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.252;DP=692;ExcessHet=0;FS=1.07;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.87;ReadPosRankSum=0.048;SOR=0.518	GT:AD:DP:GQ:PL	0/1:29,22:51:99:517,0,699	18	0	1	0
chr1	16563946	16563946	C	T	exonic	NBPF1	.	unknown	UNKNOWN	.	400	294	827	1	0	829	0.585039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1105	.	0.2789	0.2174	0.2967	0.1361	0.3057	0.2989	0.2631	0.2918	0.0008473	131	154602	rs3863779	0.0001	0.0001	0.0003	0	0.0012	0	0	.	.	0	0	0	.	0	0	0	0	0.0012	0	0.0026	0	0	.	0	0	.	.	0	.	0	0	.	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.336496	0.271084	0.351499	0.376068	0.277778	0.344828	0.297297	0.384000	0.4737	51491.3	662	chr1	16563946	.	C	T	51491.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.392;DP=11359;ExcessHet=38.2876;FS=1.376;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=59.03;MQRankSum=-9.117;QD=4.97;ReadPosRankSum=0.26;SOR=0.583	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:499,84:583:99:.:.:997,0,14889:.	1	0	18	0
chr1	16563961	16563961	T	G	exonic	NBPF1	.	unknown	UNKNOWN	.	389	1131	2	0	0	2	0.000883392	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	.	0.0007	0.0003	0.0004	0	0.0015	0.0008	0	0.0005	0.0005563	86	154602	rs369107101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	135.33	662	chr1	16563961	.	T	G	135.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.092;DP=11146;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.65;MQRankSum=1.47;QD=0.21;ReadPosRankSum=-0.594;SOR=0.81	GT:AD:DP:GQ:PL	0/1:571,71:642:99:149,0,16721	18	0	1	0
chr1	16563989	16563989	G	C	exonic	NBPF1	.	unknown	UNKNOWN	.	391	314	816	1	0	818	0.565698	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3891	0.2879	0.4120	0.2492	0.4146	0.4143	0.3885	0.3951	0.0044437	687	154602	rs12117084	0	0.0002	0	0	.	0	0	.	.	0	0	0	.	0	0	0	0	0	0.0016	0.0027	0.0029	0	0.0030	0	0	.	.	0	.	0	0	.	0	0	0.0030	0	0	.	.	.	0.03	0.54159	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.353	0.39457	.	.	.	.	.	.	.	0.0024681687	0.00037	T	.	.	.	.	.	.	.	.	.	0.02352237282194909	0.02304	.	.	0.575379014015	0.49435	T	.	.	.	-0.455599	0.01046	T	-0.892213	0.00559	T	.	.	.	0.687031	0.29593	T	.	.	.	.	.	.	.	.	-3.451	0.15752	T	.	.	0.172	0.37820	B	.	.	0.069283	0.04780	1.396	0.1972110124842818	0.00678	0.00975	0.03723	N	AEFDBCIJ	0.029075	0.02679	N	.	.	.	.	.	.	7.36511087105358E-4	0.07723	0.383005	0.05895	0	0.332388	0.05802	1	0.457825	0.06646	0	0.467017	0.07116	0	.	.	0.566	0.566	0.16501	-0.694000	0.05217	-10.261000	0.00721	-1.511000	0.01016	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	497	0.76227	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.358989	0.280488	0.387978	0.366379	0.277778	0.379310	0.324138	0.412000	0.4737	58952.3	662	chr1	16563989	.	G	C	58952.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.668;DP=14939;ExcessHet=38.2876;FS=0;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=59.58;MQRankSum=-4.89;QD=4.25;ReadPosRankSum=-0.231;SOR=0.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:616,122:738:99:.:.:1648,0,17339:.	1	0	18	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	0.3684	71661.2	958	chr1	16564107	.	T	G	71661.2	.	AC=14;AF=0.368;AN=38;BaseQRankSum=-2.161;DP=14138;ExcessHet=17.0548;FS=0;InbreedingCoeff=-0.5833;MLEAC=14;MLEAF=0.368;MQ=55.61;MQRankSum=5.16;QD=6.56;ReadPosRankSum=0.876;SOR=0.755	GT:AD:DP:GQ:PL	0/1:371,484:855:99:15020,0,10493	5	0	14	0
chr1	16564112	16564112	G	A	exonic	NBPF1	.	unknown	UNKNOWN	.	382	776	360	4	0	368	0.191667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0308	.	0.2106	0.0561	0.2861	0.0502	0.2065	0.2398	0.2097	0.2357	0.0002305	6	26028	rs200783506	0	0.0002	0	0	.	0	0	.	.	0	0	0	.	0	0	0	0	0	0	0.0008	0	0	.	0	0	.	.	0	.	0	0	.	0	.	0	0	0	.	.	.	0.031	0.54934	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	0.28264	.	.	.	.	.	.	.	0.0030666888	0.00051	T	.	.	.	.	.	.	.	.	.	0.05765086588271105	0.05706	.	.	0.524779081345	0.42300	T	.	.	.	-0.62494	0.00103	T	-0.595706	0.13176	T	.	.	.	0.79772	0.47570	T	.	.	.	.	.	.	.	.	-5.516	0.42017	T	.	.	0.264	0.49845	B	.;.	.;.	0.535560	0.09040	5.825	0.31427375372166372	0.01770	0.01195	0.04267	N	AEFDBHCI	0.026313	0.01952	N	.	.	.	.	.	.	5.56753264327555E-4	0.07304	0.383005	0.05895	0	2.97E-4	0.00021	3	0.155693	0.03940	1	0.393	0.06807	0	.	.	0.566	0.566	0.16501	-1.612000	0.02163	-12.383000	0.00529	-0.617000	0.04568	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	497	0.76227	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.122310	0.050633	0.116848	0.149573	0.000000	0.129310	0.113475	0.169355	0.1579	6385.4	688	chr1	16564112	.	G	A	6385.4	.	AC=6;AF=0.158;AN=38;BaseQRankSum=3.15;DP=12222;ExcessHet=2.0135;FS=0.79;InbreedingCoeff=-0.1875;MLEAC=6;MLEAF=0.158;MQ=56.12;MQRankSum=3.11;QD=1.39;ReadPosRankSum=1.26;SOR=0.749	GT:AD:DP:GQ:PL	0/1:673,173:846:99:2995,0,23110	13	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	93987.4	684	chr1	16564144	.	C	T	93987.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.71;DP=11427;ExcessHet=48.2876;FS=0.565;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=53.33;MQRankSum=-18.63;QD=8.46;ReadPosRankSum=0.533;SOR=0.791	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:627,67:694:99:.:.:160,0,25152:.	0	0	19	0
chr1	16564149	16564149	C	T	exonic	NBPF1	.	unknown	UNKNOWN	.	397	86	1030	9	0	1048	0.859016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4934	0.4863	0.4979	0.4883	0.4979	0.4937	0.49	0.4947	0.0530967	1382	26028	rs2992339	0.0004	0.0011	0.0002	0.0006	0.0006	0.0001	8.492e-05	0.0002	0.0001	0	0	0	.	0	0	0.0006	0	0	0	0.0048	0	0	.	0	0	.	.	.	.	0	.	.	.	.	0	.	0	.	.	.	0.027	0.57587	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.14196	.	.	.	.	.	.	.	0.0017973781	0.00024	T	.	.	.	.	.	.	.	.	.	0.0179163774864188	0.01745	.	.	0.506860494614	0.39783	T	.	.	.	-0.443409	0.01235	T	-0.874703	0.00699	T	.	.	.	0.69743	0.33655	T	.	.	.	.	.	.	.	.	-6.206	0.47972	T	.	.	0.161	0.35519	B	.;.	.;.	1.213019	0.16064	12.29	0.62062331923232983	0.06867	0.00721	0.03037	N	AEFBCI	0.018716	0.00589	N	.	.	.	.	.	.	7.30078675238498E-5	0.04552	0.109238	0.02860	1	0.063085	0.00849	2	0.155693	0.03940	1	0.195052	0.04227	1	.	.	0.566	-0.824	0.10266	0.108000	0.15232	-3.220000	0.02960	0.312000	0.19173	0.030000	0.20431	0.000000	0.08366	0.016000	0.10718	.	.	.	497	0.76227	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.483089	0.444444	0.491848	0.487395	0.375000	0.500000	0.478873	0.492000	0.5	96026.4	662	chr1	16564149	.	C	T	96026.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=0.096;DP=10999;ExcessHet=48.2876;FS=0;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=53.16;MQRankSum=6.94;QD=8.93;ReadPosRankSum=-0.939;SOR=0.695	GT:AD:DP:GQ:PL	0/1:136,521:657:99:15149,0,3609	0	0	19	0
chr1	16564154	16564154	G	A	exonic	NBPF1	.	unknown	UNKNOWN	.	381	1097	44	0	0	44	0.0196604	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	.	0.0132	0.0050	0.0130	0	0.0075	0.0178	0.0222	0.0091	0.0106726	1650	154602	rs373123987	0	1.583e-05	0	0	.	0	0	.	.	0	0	0	.	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.74150	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.208	0.23125	.	.	.	.	.	.	.	0.00440526	0.00090	T	.	.	.	.	.	.	.	.	.	0.02145031412142742	0.02098	.	.	0.448394954205	0.31725	T	.	.	.	-0.73495	0.00022	T	-0.891861	0.00562	T	.	.	.	0.952705	0.81989	D	.	.	.	.	.	.	.	.	-6.203	0.47947	T	.	.	0.213	0.44174	B	.;.	.;.	1.768159	0.22489	15.64	0.61310327108963714	0.06677	0.00662	0.02865	N	AEFBCI	0.027124	0.02158	N	.	.	.	.	.	.	8.32463719101556E-5	0.04703	0.109238	0.02860	1	0.063085	0.00849	2	0.155693	0.03940	1	0.195052	0.04227	1	.	.	0.566	-1.13	0.09274	-1.769000	0.01890	-1.955000	0.04439	0.349000	0.19912	0.006000	0.17386	0.000000	0.08366	0.010000	0.09038	.	.	.	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	0.030440	0.031250	0.040761	0.045833	0.000000	0.034483	0.034965	0.004000	0.05263	841.83	508	chr1	16564154	.	G	A	841.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.73;DP=8552;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=55.11;MQRankSum=-1.902;QD=0.82;ReadPosRankSum=-0.737;SOR=0.786	GT:AD:DP:GQ:PL	0/1:572,63:635:99:258,0,17530	17	0	2	0
chr1	16567241	16567241	G	T	exonic	NBPF1	.	unknown	UNKNOWN	.	333	1186	3	0	0	3	0.00126316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00194169036658	.	.	0.0013	0.0016	0.0008	0	0.0018	0.0015	0.0011	0.0008	3.84e-05	1	26028	rs4111893	1.477e-05	0.0003	8.959e-06	1.996e-05	2.077e-05	6.14e-06	3.95e-06	8.46e-06	5.9e-06	0	0	0	0	3.138e-05	0	2.077e-05	0	0	0.0001	0.0006	0.0001	0.0001	0.0003	6.688e-05	5.419e-05	7.573e-05	5.671e-05	2.534e-05	0	0	0.0006	0	0.0001	0	0.0001	0.0006	0.0003	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.287	0.32481	.	.	.	.	.	.	.	0.042049825	0.02916	T	0.001942	0.03456	T	.	.	.	.	0.243972157842	0.24002	0.028103748109271395	0.02760	.	.	0.488971620798	0.37295	T	.	.	.	-0.377645	0.03223	T	-0.780237	0.02446	T	.	.	.	0.60344	0.27736	T	.	.	.	.	.	.	.	.	-5.208	0.39023	T	.	.	0.263	0.54131	B	.;.	.;.	1.879948	0.23878	16.19	0.52751494822535117	0.04807	0.08114	0.14082	N	AEFDBHCIJ	0.031247	0.03299	N	.	.	.	.	.	.	0.482326227720587	0.20796	0.383005	0.05895	0	0.152768	0.03566	2	0.457825	0.06646	0	0.393	0.06807	0	.	.	0.39	0.39	0.15500	1.491000	0.35192	0.144000	0.15210	0.233000	0.18164	0.008000	0.17931	0.000000	0.08366	0.013000	0.09966	.	.	.	491	0.76657	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004777	0.005051	0.005435	0.000000	0.000000	0.008621	0.000000	0.007634	0.02632	361.33	1143	chr1	16567241	.	G	T	361.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.89;DP=9832;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.97;MQRankSum=-8.106;QD=0.21;ReadPosRankSum=1.61;SOR=0.822	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1582,124:1706:99:0|1:16567241_G_T:375,0,65280:16567241	18	0	1	0
chr1	16567247	16567247	C	A	exonic	NBPF1	.	unknown	UNKNOWN	.	328	1193	1	0	0	1	0.000418936	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00222158163521	.	.	0.0006	0.0010	0.0003	0	0.0008	0.0008	0	0.0002	3.84e-05	1	26028	rs4111894	1.273e-05	0.0003	4.506e-06	2.005e-05	2.198e-05	4.58e-06	3.01e-06	6.11e-06	3.71e-06	0	0	0	0	0	0	1.745e-05	0	2.198e-05	9.456e-05	0.0005	0.0001	4.562e-05	0.0003	5.566e-05	4.354e-05	8.741e-05	6.626e-05	2.522e-05	0	0	0.0003	0	0	0	0.0002	0	0.0003	.	.	.	0.3	0.24913	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.411	0.45142	.	.	.	.	.	.	.	0.03066814	0.01195	T	0.002222	0.04206	T	.	.	.	.	0.107399877778	0.10242	0.010554148354748348	0.01016	.	.	0.527681112289	0.42708	T	.	.	.	-0.540397	0.00333	T	-1.01402	0.00114	T	.	.	.	0.612239	0.23293	T	.	.	.	.	.	.	.	.	-2.301	0.04560	T	.	.	0.155	0.41602	B	.;.	.;.	-0.112400	0.03568	0.690	0.39490951815254299	0.02728	0.00861	0.03425	N	AEFDBHCIJ	0.017214	0.00437	N	.	.	.	.	.	.	0.556295778410312	0.21376	0.383005	0.05895	0	0.152768	0.03566	2	0.457825	0.06646	0	0.393	0.06807	0	.	.	0.39	-0.781	0.10412	-0.815000	0.04588	-20.000000	0.00162	0.209000	0.17967	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	.	.	.	491	0.76657	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001591	0.000000	0.001359	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	195.33	1143	chr1	16567247	.	C	A	195.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.75;DP=9838;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.68;MQRankSum=-7.385;QD=0.11;ReadPosRankSum=0.641;SOR=0.871	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1588,119:1707:99:0|1:16567241_G_T:209,0,65509:16567241	18	0	1	0
chr1	16579293	16579293	A	G	exonic	NBPF1	.	unknown	UNKNOWN	.	529	584	394	15	0	424	0.266332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4770	0.4924	0.4777	0.4566	0.4691	0.4789	0.4718	0.4739	0.0008837	23	26028	rs4127114	2.64e-05	4.277e-05	2.622e-05	2.658e-05	0.0002	1.812e-05	1.531e-05	0.0001	7.808e-05	0.0002	0	4.461e-05	0.0002	0	0	1.524e-05	2.313e-05	0	0.0002	0.0007	0.0002	0.0002	0.0007	0.0001	0.0001	0.0002	0.0001	0.0003	0	7.295e-05	0	0.0002	0	0	0.0001	0	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.201754	0.190909	0.213499	0.135000	0.071429	0.254386	0.230469	0.197479	0.3947	6040.85	31	chr1	16579293	.	A	G	6040.85	.	AC=15;AF=0.395;AN=38;BaseQRankSum=1.77;DP=1318;ExcessHet=20.8569;FS=134.742;InbreedingCoeff=-0.6523;MLEAC=15;MLEAF=0.395;MQ=36.18;MQRankSum=0.737;QD=5.79;ReadPosRankSum=-1.129;SOR=6.448	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:48,26:74:99:0|1:16579293_A_G:947,0,1937:16579293	4	0	15	0
chr1	16579294	16579294	T	C	exonic	NBPF1	.	unknown	UNKNOWN	.	528	581	397	16	0	429	0.269642	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4727	0.4891	0.4739	0.4729	0.4642	0.4729	0.4624	0.4674	0.0008837	23	26028	rs4127115	2.497e-05	6.823e-05	2.58e-05	2.42e-05	0.0003	1.689e-05	1.419e-05	0.0001	0.0001	0.0002	0	8.871e-05	0.0003	0	0	8.967e-06	2.286e-05	0	0.0002	0.0010	0.0002	0.0002	0.0004	0.0001	0.0001	0.0001	0.0001	0.0003	0	0.0001	0	0.0004	0.0002	0	0.0001	0	0.0002	.	.	.	0.626	0.11263	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00407	.	.	.	.	.	.	.	0.0016256273	0.00019	T	.	.	.	.	.	.	.	.	.	0.015250635719149447	0.01481	.	.	0.530770659447	0.43143	T	.	.	.	-0.622413	0.00106	T	-1.13183	0.00013	T	.	.	.	0.49745	0.15470	T	.	.	.	.	.	.	.	.	-6.053	0.46720	T	.	.	0.064	0.01738	B	.;.	.;.	-0.476506	0.01943	0.166	0.24072861881687246	0.01047	0.00011	0.00159	N	AEFI	0.015935	0.00328	N	.	.	.	.	.	.	6.49849957978273E-4	0.07527	0.163922	0.03765	0	0.096583	0.02683	0	0.083675	0.02720	0	0.24341	0.04801	0	.	.	.	.	.	-0.898000	0.04213	-20.000000	0.00162	-1.466000	0.01076	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	445	0.79730	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.180503	0.190909	0.186464	0.120000	0.071429	0.254386	0.206349	0.176471	0.3947	6040.85	31	chr1	16579294	.	T	C	6040.85	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-5.638;DP=1314;ExcessHet=20.8569;FS=134.742;InbreedingCoeff=-0.6523;MLEAC=15;MLEAF=0.395;MQ=36.15;MQRankSum=0.737;QD=5.79;ReadPosRankSum=-1.044;SOR=6.448	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:48,26:74:99:0|1:16579293_A_G:947,0,1937:16579293	4	0	15	0
chr1	16579305	16579305	G	A	exonic	NBPF1	.	unknown	UNKNOWN	.	547	597	363	15	0	393	0.247637	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4396	0.4635	0.4334	0.4429	0.4244	0.4403	0.4359	0.4340	0.0011142	29	26028	rs10907245	0.0016	0.0023	0.0015	0.0017	0.0061	0.0015	0.0015	0.0053	0.0050	0.0061	0.0009	0.0028	0.0005	0.0002	0.0027	0.0016	0.0013	0.0019	0.0040	0.0094	0.0041	0.0039	0.0113	0.0037	0.0036	0.0105	0.0101	0.0113	0	0.0013	0.0026	0.0004	9.697e-05	0	0.0016	0.0049	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.062183	0.039216	0.051247	0.070000	0.000000	0.098214	0.070866	0.060345	0.3421	3927.26	26	chr1	16579305	.	G	A	3927.26	.	AC=13;AF=0.342;AN=38;BaseQRankSum=3.46;DP=1255;ExcessHet=13.8672;FS=130.665;InbreedingCoeff=-0.52;MLEAC=13;MLEAF=0.342;MQ=36.03;MQRankSum=0.61;QD=4.49;ReadPosRankSum=-0.348;SOR=6.491	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:49,22:71:99:.:.:691,0,1421:.	6	0	13	0
chr1	16579308	16579308	G	C	exonic	NBPF1	.	unknown	UNKNOWN	.	536	678	298	10	0	318	0.189964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4169	0.4635	0.4098	0.4442	0.3977	0.4141	0.4226	0.4033	0.0009605	25	26028	rs10796417	2.988e-06	0.0001	2.05e-06	3.875e-06	1.313e-05	8e-07	2.2e-07	.	.	0	0	4.366e-05	0	0	0	1.416e-06	0	1.313e-05	4.685e-05	0.0005	7.844e-05	1.371e-05	7.453e-05	2.144e-05	1.549e-05	2.876e-05	1.88e-05	0	0	6.652e-05	0.0003	0	0	0	7.453e-05	0	0	.	.	.	0.114	0.36765	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.06190	.	.	.	.	.	.	.	0.0018868446	0.00026	T	.	.	.	.	.	.	.	.	.	0.03536828552245914	0.03483	.	.	0.579951882362	0.50079	T	.	.	.	-0.382433	0.03007	T	-0.787115	0.02245	T	.	.	.	0.920308	0.71149	D	.	.	.	.	.	.	.	.	-9.586	0.71394	D	.	.	0.175	0.38372	B	.;.	.;.	1.521589	0.19533	14.31	0.3543343570932736	0.02223	0.00520	0.02423	N	AEFI	0.030698	0.03141	N	.	.	.	.	.	.	6.38433801032419E-4	0.07505	0.183328	0.03972	0	0.096583	0.02683	0	0.083675	0.02720	0	0.185264	0.04187	1	.	.	.	.	.	0.649000	0.24529	-0.171000	0.11226	0.423000	0.20817	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	.	.	.	445	0.79730	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.063613	0.029412	0.062500	0.055000	0.000000	0.098214	0.070866	0.068376	0.2895	1867.3	26	chr1	16579308	.	G	C	1867.3	.	AC=11;AF=0.289;AN=38;BaseQRankSum=0.811;DP=1250;ExcessHet=8.9063;FS=99.423;InbreedingCoeff=-0.4082;MLEAC=11;MLEAF=0.289;MQ=35.97;MQRankSum=0.588;QD=2.62;ReadPosRankSum=-0.44;SOR=7.204	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:64,9:73:99:.:.:120,0,2551:.	8	0	11	0
chr1	16759590	16759590	-	C	exonic	MST1L	.	frameshift insertion	MST1L:NM_001271733:exon7:c.811dupG:p.A271Gfs*26	.	687	520	144	171	0	486	0.31848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0027	0.0007	0.0003	0	0.0010	0	0.0007	0.0097587	254	26028	rs200532237	0.0004	0.0070	0.0004	0.0004	0.0030	0.0003	0.0003	0.0023	0.0021	0.0030	0.0007	0.0005	0.0006	9.298e-05	0.0004	0.0002	0.0007	0.0008	0.0020	0.0100	0.0019	0.0021	0.0059	0.0016	0.0015	0.0045	0.0039	0.0059	0.0022	0.0010	0.0037	0.0009	0.0016	0	0.0008	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6579	11605.2	33	chr1	16759590	.	G	GC	11605.2	.	AC=25;AF=0.658;AN=38;BaseQRankSum=4.81;DP=1524;ExcessHet=5.6906;FS=11.534;InbreedingCoeff=-0.2845;MLEAC=25;MLEAF=0.658;MQ=44.88;MQRankSum=-2.822;QD=9.07;ReadPosRankSum=-3.116;SOR=0.816	GT:AD:DP:GQ:PL	1/1:0,33:33:99:1138,99,0	1	7	11	0
chr1	18854842	18854842	C	G	exonic	TAS1R2	.	nonsynonymous SNV	TAS1R2:NM_152232:exon3:c.G628C:p.V210L	.	423	1098	1	0	0	1	0.000455166	.	.	.	2341610	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.170	0.0487834584926	0.0003	.	0.0003	0	0	0	0	0.0004	0.0012	0.0007	0.0002329	36	154602	rs200290887	0.0003	0.0003	0.0003	0.0004	0.0009	0.0003	0.0003	0.0008	0.0007	0	0.0002	0	0	0	0	0.0003	0.0002	0.0009	0.0003	0.0003	0.0002	0.0003	0.0010	0.0002	0.0002	0.0004	0.0003	4.811e-05	0	0.0001	0	0	0	0.0034	0.0004	0	0.0010	0.09	0.31987	T	0.452	0.12884	T	0.223	0.30377	B	0.176	0.35644	B	0.132296	0.18592	N	0.394376	1	0.08975	N	2.595	0.75868	M	-1.73	0.83327	D	-0.88	0.23808	N	0.262	0.29659	-0.6796	0.61391	T	0.419	0.76516	T	10	0.07865849	0.12563	T	0.048783	0.63527	D	0.170	0.43303	0.706	0.84236	0.318828661733	0.31499	0.6556998600835356	0.65505	0.194938202051	0.21832	0.341917932034	0.16724	T	0.088212	0.38109	T	-0.316928	0.07153	T	-0.313526	0.43278	T	0.0326941483095508	0.02420	T	0.755224	0.37818	T	0.28677925	0.51691	0.2953769	0.55569	0.28677925	0.51691	0.2953769	0.55568	-7.6	0.58311	D	.	.	0.208	0.43462	B	.	.	1.061032	0.14430	11.00	0.93545143678016951	0.23374	0.28727	0.23632	N	AEFDGBHCI	0.165609	0.29212	N	-0.700858053578635	0.15997	0.8112163	-0.76798502995914	0.15281	0.8028934	0.999954539220017	0.48110	0.525926	0.21836	0	0.59043	0.45803	0	0.615948	0.41167	0	0.542086	0.14980	0	.	.	4.99	1.38	0.21262	0.835000	0.27184	-0.783000	0.07446	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.356000	0.25796	0.0:0.7056:0.0:0.2944	8.387	0.31669	946	0.12043	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	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1386.33	175	chr1	18854842	.	C	G	1386.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.16;DP=1830;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.16;ReadPosRankSum=0.727;SOR=0.698	GT:AD:DP:GQ:PL	0/1:61,53:114:99:1400,0,1576	18	0	1	0
chr1	19105836	19105836	A	C	exonic	UBR4	.	nonsynonymous SNV	UBR4:NM_020765:exon84:c.T12400G:p.F4134V	.	414	1107	1	0	0	1	0.000451467	.	.	.	2812399	not_provided|UBR4-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.598	0.111055851717	0.0014	0.000599042	0.0018	0.0001	0.0004	0	0.0010	0.0027	0.0017	0.0009	0.0012484	193	154602	rs143516447	0.0016	0.0016	0.0016	0.0016	0.0019	0.0015	0.0015	0.0018	0.0018	0.0002	0.0002	0	0	0.0010	0.0004	0.0019	0.0011	0.0009	0.0009	0.0009	0.0011	0.0006	0.0015	0.0007	0.0007	0.0013	0.0012	0.0004	0	0.0003	0	0	0.0006	0	0.0015	0.0009	0.0004	0.0	0.91255	D	.	.	.	0.967	0.56408	D	0.879	0.62418	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.395	0.69210	M	1.37	0.34253	T	-6.22	0.90450	D	0.908	0.90932	-0.6257	0.63751	T	0.216	0.57784	T	10	0.17536587	0.32464	T	0.111056	0.78868	D	0.598	0.84074	.	.	0.363336886782	0.35939	0.7365250772052391	0.73597	1.94698254813	0.93348	0.850374221802	0.89671	D	0.660158	0.89791	D	-0.0246774	0.48184	T	0.178546	0.81912	D	0.0935679963207647	0.11635	T	0.944206	0.78893	D	0.8856905	0.90141	0.7112044	0.82963	0.8856905	0.90142	0.7112044	0.82964	-7.072	0.54558	T	.	.	0.989	0.93416	P	.	.	3.489550	0.48768	22.7	0.98803259635078744	0.46493	0.98998	0.89743	D	AEFDBI	0.906518	0.85938	D	0.783787773975052	0.85081	8.471121	0.751580618165672	0.86275	8.837313	0.999999336169779	0.74766	0.719381	0.83141	0	0.702456	0.74545	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.29	5.29	0.74430	8.735000	0.91247	11.231000	0.90101	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.956000	0.50813	1.0:0.0:0.0:0.0	14.198	0.65227	917	0.20147	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001009	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	1158.33	33	chr1	19105836	.	A	C	1158.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.595;DP=725;ExcessHet=0;FS=5.602;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.63;ReadPosRankSum=-0.928;SOR=1.297	GT:AD:DP:GQ:PL	0/1:41,44:85:99:1172,0,1020	18	0	1	0
chr1	19267392	19267392	C	T	exonic	AKR7L	.	unknown	UNKNOWN	.	415	1106	1	0	0	1	0.000451875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.00111682448417	7.7e-05	.	8.264e-06	9.762e-05	0	0	0	0	0	0	6.5e-06	1	154602	rs370338457	2.394e-05	2.463e-05	2.042e-05	2.75e-05	0.0003	1.739e-05	1.539e-05	6.094e-05	2.522e-05	2.987e-05	2.236e-05	0	0	0	0.0003	2.698e-05	1.656e-05	0	3.945e-05	3.94e-05	2.57e-05	5.384e-05	6.555e-05	1.716e-05	1.13e-05	1.972e-05	1.124e-05	2.414e-05	0	6.555e-05	0	0	0	0	5.88e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.645793	0.05894	N	1.175910	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.042	0.01498	-1.0030	0.29050	T	0.027	0.11441	T	9	0.023538291	0.00618	T	0.001117	0.01360	T	0.020	0.03691	.	.	0.0666544352282	0.05500	.	.	0.3598936142	0.37679	.	.	.	.	.	.	-0.0432019	0.45472	T	-0.284347	0.46357	T	0.0581038221716881	0.06867	T	0.105489	0.00786	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.21950	B	.	.	-1.038345	0.00718	0.021	0.91283221524503122	0.20543	0.01143	0.04142	N	AEFBI	0.079031	0.15956	N	-1.29713427536567	0.03710	0.1662178	-1.38859877796895	0.03373	0.1571862	0.170754721931624	0.17732	0.078448	0.01964	0	0.097471	0.02872	0	0.076283	0.02329	2	0.062806	0.01542	0	.	.	3.55	-6.03	0.02001	-1.393000	0.02627	-7.705000	0.01102	-0.181000	0.10308	0.000000	0.06391	0.000000	0.08366	0.652000	0.32748	0.1319:0.5607:0.1329:0.1745	3.749	0.08085	709	0.56835	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2622.33	44	chr1	19267392	.	C	T	2622.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.273;DP=911;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=53.11;MQRankSum=0.01;QD=14.82;ReadPosRankSum=1.3;SOR=0.692	GT:AD:DP:GQ:PL	0/1:79,98:177:99:2636,0,2180	18	0	1	0
chr1	24161603	24161603	C	G	exonic	IFNLR1	.	nonsynonymous SNV	IFNLR1:NM_170743:exon4:c.G449C:p.C150S,IFNLR1:NM_173064:exon4:c.G449C:p.C150S,IFNLR1:NM_173065:exon4:c.G449C:p.C150S	.	427	1094	1	0	0	1	0.00045683	.	.	.	3220058	not_specified|IFNLR1-related_disorder	MedGen:CN169374|.	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.238	0.0188474968575	0.0005	0.000399361	0.0005	0.0028	0	0	0	0.0001	0	0	9.7e-05	15	154602	rs141989044	7.489e-05	7.524e-05	7.179e-05	7.807e-05	0.0010	6.305e-05	5.833e-05	0.0008	0.0007	0.0010	0.0006	0.0002	0	0	0	2.408e-05	0.0003	1.26e-05	0.0006	0.0006	0.0006	0.0006	0.0017	0.0005	0.0004	0.0014	0.0013	0.0017	0	0.0009	0	0	0	0	0	0.0005	0	0.073	0.91255	T	0.026	0.56192	D	0.945	0.53279	P	0.215	0.41361	B	0.935774	0.08388	N	0.974818	0.918097	0.29302	N	2.745	0.80253	M	1.01	0.41058	T	-7.34	0.98264	D	0.616	0.72120	-0.9257	0.44758	T	0.129	0.43686	T	10	0.042650193	0.03035	T	0.018847	0.41045	T	0.238	0.54217	0.481	0.56142	0.364342057095	0.36045	0.5214744685158761	0.52070	0.524515693656	0.50131	0.507065057755	0.39812	T	0.647614	0.89268	D	-0.258859	0.13033	T	-0.150158	0.59231	T	0.120663297246269	0.14495	T	0.756624	0.37993	T	0.5491686	0.69909	0.5456301	0.73735	0.5491686	0.69911	0.5456301	0.73736	-4.767	0.34204	T	.	.	0.944	0.86323	P	.;.;.;.;.	.;.;.;.;.	4.296767	0.65572	24.8	0.97021448915646225	0.32026	0.62421	0.31776	D	AEFDBI	0.428862	0.49222	N	0.0640862263693103	0.44793	2.746932	0.0526624151767788	0.42202	2.54843	0.999836860543147	0.43792	0.615465	0.37627	0	0.633656	0.55848	0	0.606735	0.37207	0	0.586402	0.36253	0	.	.	4.93	4.93	0.64394	3.531000	0.53302	7.631000	0.62734	0.545000	0.25583	0.730000	0.28923	1.000000	0.68203	0.970000	0.54328	0.0:1.0:0.0:0.0	14.056	0.64295	518	0.74548	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	796.33	34	chr1	24161603	.	C	G	796.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.892;DP=784;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.62;ReadPosRankSum=0.785;SOR=0.732	GT:AD:DP:GQ:PL	0/1:42,33:75:99:810,0,1146	18	0	1	0
chr1	26282323	26282323	A	0	exonic	UBXN11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	32577.0	38	chr1	26282323	.	A	*	32577.0	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-0.299;DP=879;ExcessHet=0;FS=0;InbreedingCoeff=0.6381;MLEAC=5;MLEAF=0.132;MQ=59.94;MQRankSum=0;QD=30.05;ReadPosRankSum=0.454;SOR=0.769	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,9:30:99:1|0:26282320_TCCAGGACAGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGA_T:1337,889,853:26282320	14	0	5	0
chr1	26282334	26282341	TGGGGCCG	0	exonic	UBXN11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	9511.94	43	chr1	26282334	.	TGGGGCCG	*	9511.94	.	AC=4;AF=0.105;AN=38;BaseQRankSum=1.55;DP=897;ExcessHet=0.233;FS=18.578;InbreedingCoeff=0.229;MLEAC=4;MLEAF=0.105;MQ=59.9;MQRankSum=0;QD=19.86;ReadPosRankSum=-1.394;SOR=1.761	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,9:32:99:1|0:26282320_TCCAGGACAGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGA_T:1418,971,937:26282320	15	0	4	0
chr1	26282344	26282361	ACCGGGACCGGGACTGGG	0	exonic	UBXN11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	9447.43	43	chr1	26282344	.	ACCGGGACCGGGACTGGG	*	9447.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=1.65;DP=928;ExcessHet=0.233;FS=19.632;InbreedingCoeff=0.229;MLEAC=4;MLEAF=0.105;MQ=59.91;MQRankSum=0;QD=18.78;ReadPosRankSum=-1.19;SOR=1.749	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,9:32:99:1|0:26282320_TCCAGGACAGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGA_T:1418,971,937:26282320	15	0	4	0
chr1	26282357	26282367	CTGGGGCCGGG	0	exonic	UBXN11	.	.	.	.	386	373	210	27	526	790	0.261386	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	7332.91	43	chr1	26282357	.	CTGGGGCCGGG	*	7332.91	.	AC=14;AF=0.368;AN=38;BaseQRankSum=1.79;DP=974;ExcessHet=0.0637;FS=12.324;InbreedingCoeff=0.3518;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=11.37;ReadPosRankSum=0.699;SOR=1.5	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,23:32:77:1|1:26282320_TCCAGGACAGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGA_T:1107,78,0:26282320	9	4	6	0
chr1	26344884	26344884	A	G	exonic	CRYBG2	.	nonsynonymous SNV	CRYBG2:NM_001039775:exon2:c.T1774C:p.S592P	.	398	1117	7	0	0	7	0.00312361	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000599042	0.0029	0	0	0	0.0128	0.0006	0	0.0047	0.0004657	72	154602	rs538385557	0.0006	0.0006	0.0005	0.0008	0.0056	0.0006	0.0006	0.0046	0.0045	3.174e-05	5.618e-05	3.982e-05	0	0.0023	0.0056	0.0003	0.0006	0.0050	0.0007	0.0007	0.0005	0.0008	0.0045	0.0006	0.0005	0.0030	0.0025	7.951e-05	0	0.0001	0	0	0.0024	0	0.0007	0.0015	0.0045	0.007	0.59928	D	0.372	0.16376	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.19	0.78427	T	-3.67	0.70191	D	0.045	0.01740	.	.	.	.	.	.	.	0.0076414645	0.00174	T	.	.	.	.	.	.	.	0.593458155424	0.59024	0.02519222091890092	0.02470	.	.	0.312482118607	0.12282	T	0.508241	0.82561	D	-0.544142	0.00316	T	-0.553583	0.16984	T	.	.	.	0.20068	0.02286	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.12181	B	.;.;.	.;.;.	0.128573	0.05245	1.749	0.46358438282256698	0.03707	0.00081	0.00551	N	AEFGBI	.	.	.	.	.	.	.	.	.	0.060607950324704	0.15203	0.162113	0.03585	0	0.059962	0.00310	0	0.175069	0.04249	0	0.062806	0.01542	0	0.0567458	0.13447	2.56	-0.481	0.11479	-0.598000	0.05802	-3.681000	0.02609	-0.258000	0.06954	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.3975:0.0:0.3879:0.2146	2.632	0.04647	355	0.85216	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005359	0.000000	0.001416	0.006993	0.000000	0.019608	0.006369	0.007812	0.02632	2806.33	116	chr1	26344884	.	A	G	2806.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.55;DP=2043;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.8;MQRankSum=1.12;QD=15.34;ReadPosRankSum=-0.051;SOR=0.665	GT:AD:DP:GQ:PL	0/1:82,101:183:99:2820,0,2187	18	0	1	0
chr1	26346482	26346482	C	T	exonic	CRYBG2	.	nonsynonymous SNV	CRYBG2:NM_001039775:exon2:c.G176A:p.R59H	.	421	1097	4	0	0	4	0.00181984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	.	8.2e-05	0.000798722	0.0005	0.0001	0.0006	0	0	6.263e-05	0.0012	0.0031	0.0004463	69	154602	rs370067840	0.0002	0.0002	0.0001	0.0003	0.0033	0.0002	0.0002	0.0030	0.0028	0	0.0004	0	5.038e-05	0	0	1.259e-05	0.0002	0.0033	0.0002	0.0002	6.426e-05	0.0003	0.0043	0.0001	0.0001	0.0029	0.0024	4.813e-05	0	0.0001	0	0.0002	0	0	0	0	0.0043	.	.	.	0.544	0.09621	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.028	0.00618	-0.9585	0.39461	T	0.012	0.04510	T	9	0.006425917	0.00146	T	.	.	.	0.044	0.11924	.	.	0.0297737177859	0.01360	0.04577471199051958	0.04521	.	.	0.206053942442	0.00655	T	.	.	.	-0.782315	0.00011	T	-0.899882	0.00503	T	0.0125665755209146	0.00209	T	0.416558	0.10945	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.46250	B	.;.;.	.;.;.	0.382107	0.07541	4.190	0.5933387920255544	0.06200	0.00575	0.02600	N	AEFDBHCI	.	.	.	-1.48351235336492	0.01966	0.08633371	-1.46811101694895	0.02610	0.1203354	0.0267706460024836	0.13733	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.04	-2.42	0.06164	-0.432000	0.07026	-4.291000	0.02235	-0.780000	0.03343	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3138:0.1908:0.1383:0.3571	0.242	0.00179	349	0.85513	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001554	0.000000	0.000000	0.003497	0.000000	0.000000	0.000000	0.007576	0.02632	2311.33	39	chr1	26346482	.	C	T	2311.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.001;DP=976;ExcessHet=0;FS=3.374;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.56;ReadPosRankSum=-0.23;SOR=0.971	GT:AD:DP:GQ:PL	0/1:89,95:184:99:2325,0,2215	18	0	1	0
chr1	26941505	26941505	C	G	exonic	NUDC	.	nonsynonymous SNV	NUDC:NM_006600:exon3:c.C208G:p.R70G	.	400	1112	10	0	0	10	0.00447628	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.328	0.0374294250573	0.0002	0.000199681	0.0007	0	8.951e-05	0	0.0036	0.0004	0.0035	0.0018	0.0005563	86	154602	rs140994074	0.0005	0.0005	0.0004	0.0005	0.0021	0.0005	0.0004	0.0018	0.0017	2.987e-05	0	0	0	0.0049	0.0009	0.0002	0.0006	0.0021	0.0007	0.0007	0.0003	0.0011	0.0017	0.0006	0.0005	0.0008	0.0006	0	0	0	0	0	0.0063	0	0.0004	0	0.0017	0.11	0.29158	T	0.15	0.32461	T	0.049	0.22227	B	0.051	0.25434	B	0.000213	0.47681	D	0.195339	0.967019	0.38567	D	2.125	0.59049	M	-1.46	0.80983	T	-1.89	0.47683	N	0.535	0.56317	-0.4701	0.69721	T	0.365	0.72552	T	10	0.0084267855	0.00191	T	0.037429	0.57609	D	0.328	0.65026	.	.	0.592835706617	0.58961	0.1518294282214161	0.15104	0.395548173852	0.40695	0.474954456091	0.35363	T	0.03094	0.31371	T	-0.265669	0.12244	T	-0.167621	0.57660	T	0.022494501876782	0.00964	T	0.859714	0.58632	D	0.17628387	0.38533	0.18019171	0.40802	0.17628387	0.38533	0.18019171	0.40801	-4.89	0.35622	T	.	.	0.235	0.46802	B	.;.;.	.;.;.	3.521413	0.49360	22.8	0.99212397930101859	0.55624	0.98834	0.87468	D	AEFDBI	0.862121	0.78034	D	-0.0865932595654072	0.37980	2.217585	-0.00312990692144431	0.39574	2.348515	0.999735223601244	0.42341	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.32	3.42	0.38259	4.668000	0.61262	4.865000	0.45508	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.2628:0.7372:0.0:0.0	14.716	0.68887	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	.	.	.	.	.	.	.	.	0.02632	895.33	34	chr1	26941505	.	C	G	895.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.332;DP=739;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.78;ReadPosRankSum=-1.635;SOR=0.766	GT:AD:DP:GQ:PL	0/1:62,40:102:99:909,0,1613	18	0	1	0
chr1	27347429	27347429	G	A	exonic	SYTL1	.	nonsynonymous SNV	SYTL1:NM_001193308:exon3:c.G200A:p.R67Q,SYTL1:NM_032872:exon3:c.G200A:p.R67Q	.	414	1107	1	0	0	1	0.000451467	.	.	.	4070164	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.226	0.0231101527919	.	.	0.0001	9.688e-05	8.652e-05	0	0	0	0.0011	0.0009	0.0001164	18	154602	rs762786293	9.852e-05	9.85e-05	7.488e-05	0.0001	0.0009	8.512e-05	7.982e-05	0.0008	0.0007	0	0	0	2.519e-05	0	0	5.576e-05	3.312e-05	0.0009	5.252e-05	5.249e-05	6.424e-05	4.027e-05	0.0008	2.555e-05	1.829e-05	0.0003	0.0002	2.406e-05	0	6.532e-05	0	0	0	0	2.94e-05	0	0.0008	0.273	0.23721	T	0.748	0.31833	T	0.96	0.55278	D	0.346	0.42645	B	0.068085	0.21696	N	0.456409	0.963833	0.38371	D	1.2	0.30300	L	-1.05	0.76690	T	-0.86	0.24026	N	0.291	0.34336	-0.1590	0.78696	T	0.423	0.76750	T	10	0.08181381	0.13434	T	0.02311	0.46051	T	0.226	0.52472	.	.	0.815792830342	0.81405	0.21600092023560696	0.21516	0.438384567869	0.43873	0.378318697214	0.22018	T	0.013737	0.33946	T	-0.366834	0.03757	T	-0.340241	0.40318	T	0.090157373670038	0.11238	T	0.863714	0.56064	D	0.1897087	0.40525	0.09277423	0.21881	0.1897087	0.40524	0.09277423	0.21881	-6.605	0.52193	T	.	.	0.134	0.29032	B	.;.;.;.;.	.;.;.;.;.	4.147863	0.62199	24.4	0.99918124427670707	0.98586	0.71832	0.35185	D	ALL	0.280316	0.39416	N	0.27087320729241	0.54679	3.632862	0.321059979348586	0.56778	3.841805	0.99999999997774	0.74766	0.787689	0.99735	0	0.643519	0.57511	0	0.0	0.00061	3	0.604944	0.38103	0	.	.	4.35	4.35	0.51454	4.136000	0.57766	11.817000	0.97118	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	15.788	0.78097	538	0.73119	Rab-binding domain;.;Rab-binding domain;Rab-binding domain;Rab-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	.	.	.	.	.	.	.	.	0.02632	646.33	34	chr1	27347429	.	G	A	646.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.702;DP=670;ExcessHet=0;FS=1.085;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=0.039;SOR=0.527	GT:AD:DP:GQ:PL	0/1:24,26:50:99:660,0,634	18	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	0.07895	2793.79	38	chr1	29275715	.	G	T	2793.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.813;DP=793;ExcessHet=0.3672;FS=1.161;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=12.04;ReadPosRankSum=-0.061;SOR=0.57	GT:AD:DP:GQ:PL	0/1:38,32:70:99:886,0,1046	16	0	3	0
chr1	31668830	31668830	G	A	exonic	COL16A1	.	nonsynonymous SNV	COL16A1:NM_001856:exon50:c.C3221T:p.T1074M	.	.	.	.	.	.	.	.	.	.	.	2698896	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.284	0.18454125841	.	.	3.336e-05	0	0	0	0.0002	1.51e-05	0	0.0001	2.59e-05	4	154602	rs773451673	1.505e-05	1.505e-05	1.361e-05	1.65e-05	6.956e-05	9.85e-06	8.42e-06	2.995e-05	2.038e-05	2.987e-05	2.237e-05	0	2.519e-05	1.875e-05	0	8.993e-06	3.312e-05	6.956e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	0.29688	T	0.104	0.38160	T	0.958	0.54977	D	0.568	0.49807	P	0.038295	0.24302	N	0.430418	0.942792	0.26740	N	0.83	0.20963	L	-3.27	0.93640	D	-0.89	0.24026	N	0.209	0.23253	0.088	0.83954	D	0.660	0.88186	D	10	0.44614658	0.58409	T	0.184541	0.85756	D	0.284	0.60219	0.34	0.33141	0.749791253662	0.74752	0.19524506561112973	0.19441	0.162573078674	0.18344	0.360701739788	0.19488	T	0.175337	0.52488	T	-0.168885	0.25404	T	-0.29884	0.44846	T	0.107229605317116	0.13134	T	0.887811	0.61653	D	0.024960272	0.01382	0.054724287	0.09465	0.024960272	0.01382	0.054724287	0.09464	-4.411	0.29706	T	.	.	0.079	0.07177	B	.	.	1.878890	0.23864	16.18	0.96883136633543376	0.31469	0.10737	0.16157	N	AEFBI	0.174835	0.30198	N	-0.428567574193107	0.24473	1.321626	-0.542405290054595	0.21008	1.13445	0.999607239160562	0.40866	0.615465	0.37627	0	0.610034	0.51514	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.34	-0.746	0.10535	0.552000	0.23083	0.710000	0.20927	-0.168000	0.11412	0.220000	0.24536	0.188000	0.23474	0.219000	0.22435	0.0:0.2335:0.7665:0.0	15.637	0.76716	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	.	.	.	.	.	.	.	.	0.05263	1285.83	40	chr1	31668830	.	G	A	1285.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.927;DP=758;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=9.18;ReadPosRankSum=2.1;SOR=0.668	GT:AD:DP:GQ:PL	0/1:42,34:76:99:866,0,1060	17	0	2	0
chr1	41152625	41152625	G	A	exonic	SCMH1	.	nonsynonymous SNV	SCMH1:NM_001031694:exon4:c.C50T:p.P17L	.	431	1064	26	1	0	28	0.012987	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.00752208256858	0.0062	0.00199681	0.0046	0.0010	0.0026	0	0.0011	0.0072	0.0022	0.0018	0.0047283	731	154602	rs114233776	0.0056	0.0056	0.0057	0.0056	0.0106	0.0055	0.0055	0.0085	0.0077	0.0014	0.0039	0.0152	0	0.0016	0.0106	0.0063	0.0063	0.0013	0.0047	0.0047	0.0051	0.0042	0.0061	0.0044	0.0043	0.0056	0.0054	0.0013	0.0614	0.0046	0.0210	0	0.0013	0.0068	0.0061	0.0071	0.0019	0.006	0.61437	D	0.0	0.92824	D	0.0	0.02946	B	0.001	0.04355	B	0.284347	0.14886	N	0.657827	0.95199	0.81001	D	0.895	0.22405	L	2.35	0.16217	T	-1.41	0.34795	N	0.316	0.35620	-1.0499	0.14425	T	0.020	0.08266	T	10	0.0065268576	0.00148	T	0.007522	0.19952	T	0.103	0.29403	.	.	0.151262610727	0.14761	0.524196079369963	0.52343	.	.	.	.	.	0.191066	0.54579	T	-0.57438	0.00208	T	-0.591294	0.13554	T	0.0137737123849673	0.00259	T	0.607039	0.22875	T	0.0540155	0.10303	0.055556532	0.09769	0.0540155	0.10303	0.055556532	0.09768	-2.188	0.03983	T	.	.	0.176	0.40131	B	.;.	.;.	1.691756	0.21554	15.25	0.99679535803375918	0.79174	0.43174	0.27040	N	AEFDGBHCI	0.084697	0.17166	N	-0.385090706085464	0.26000	1.415642	-0.229706834339178	0.30476	1.716327	0.999999999966236	0.74766	0.638212	0.43195	0	0.653731	0.59785	0	0.653264	0.51672	0	0.635551	0.53088	0	.	.	5.35	2.48	0.29194	0.557000	0.23159	4.315000	0.42981	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.271:0.0:0.729:0.0	7.241	0.25269	429	0.80881	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007553	0.015152	0.010870	0.005848	0.000000	0.008621	0.003049	0.000000	0.05263	2756.83	34	chr1	41152625	.	G	A	2756.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.3;DP=847;ExcessHet=0.119;FS=6.715;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.6;ReadPosRankSum=-0.194;SOR=0.9	GT:AD:DP:GQ:PL	0/1:72,62:134:99:1543,0,1774	17	0	2	0
chr1	41382209	41382209	-	GGGACGCCCGCCTACTTCGGCGGCTG	exonic	FOXO6	.	frameshift insertion	FOXO6:NM_001291281:exon3:c.1008_1009insGGGACGCCCGCCTACTTCGGCGGCTG:p.Q337Gfs*166	.	632	828	31	5	26	67	0.0241603	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0013447	35	26028	.	0.0010	0.0006	0.0010	0.0009	0.0041	0.0009	0.0009	0.0014	0.0009	0.0007	0.0041	0.0008	0.0011	0.0036	0.0012	0.0010	0.0008	0.0012	0.0002	0.0005	0.0003	0.0002	0.0004	0.0002	0.0001	0.0001	9.233e-05	0.0001	0.0022	0.0002	0	0.0002	0.0006	0.0034	0.0002	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	432.58	8	chr1	41382209	.	C	CGGGACGCCCGCCTACTTCGGCGGCTG	432.58	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.21;DP=301;ExcessHet=0.7564;FS=23.127;InbreedingCoeff=-0.1385;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.42;ReadPosRankSum=0.21;SOR=5.11	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:2,5:7:66:0|1:41382209_C_CGGGACGCCCGCCTACTTCGGCGGCTG:202,0,66:41382209	17	0	2	0
chr1	43307271	43307271	A	G	exonic	TIE1	.	nonsynonymous SNV	TIE1:NM_001253357:exon5:c.A635G:p.Q212R,TIE1:NM_005424:exon5:c.A770G:p.Q257R	.	424	1097	1	0	0	1	0.000455581	0.0047	0.092	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.00503378017481	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	0.16574	T	0.637	0.11190	T	0.0	0.02946	B	0.0	0.01387	B	0.034795	0.24725	N	0.199285	1	0.81001	D	-0.24	0.03895	N	0.74	0.50459	T	-0.24	0.11366	N	0.237	0.26717	-1.0540	0.13305	T	0.066	0.27156	T	10	0.116309166	0.21937	T	0.005034	0.12722	T	0.052	0.14661	0.121	0.02793	0.762959940674	0.76080	0.22527203508044336	0.22442	0.365324628893	0.38131	0.503993332386	0.39384	T	0.177607	0.52796	T	-0.185205	0.22964	T	-0.503811	0.21953	T	0.578231334686279	0.35550	D	0.680032	0.28847	T	0.085125186	0.19732	0.09929799	0.23703	0.085125186	0.19732	0.09929799	0.23703	-4.698	0.33380	T	.	.	0.084	0.15430	B	.;.	.;.	2.964401	0.39493	21.0	0.9437095131720864	0.24737	0.86507	0.45801	D	AEFDGBI	0.583079	0.58244	D	-0.228717147126565	0.31960	1.797414	0.000516213042639907	0.39740	2.360926	0.931667121183896	0.27058	0.67177	0.52595	0	0.693144	0.66847	0	0.576033	0.28219	0	0.711	0.71501	0	.	.	5.36	5.36	0.76624	3.390000	0.52263	11.189000	0.88595	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.966000	0.53164	0.9072:0.0:0.0928:0.0	8.765	0.33859	662	0.61715	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1793.33	35	chr1	43307271	.	A	G	1793.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.19;DP=790;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.35;ReadPosRankSum=-0.945;SOR=0.674	GT:AD:DP:GQ:PL	0/1:53,72:125:99:1807,0,1294	18	0	1	0
chr1	50419106	50419106	G	0	exonic	DMRTA2	.	.	.	.	453	9	255	719	86	1779	0.98948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	11397.8	13	chr1	50419106	.	G	*	11397.8	.	AC=8;AF=0.211;AN=38;BaseQRankSum=1.18;DP=475;ExcessHet=0;FS=0;InbreedingCoeff=nan;MLEAC=8;MLEAF=0.211;MQ=59.95;MQRankSum=0;QD=28.28;ReadPosRankSum=0.367;SOR=0.869	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,11:19:99:1|0:50419101_CCGGCGG_C:881,256,297:50419101	11	0	8	0
chr1	55007033	55007033	G	C	exonic	BSND	.	nonsynonymous SNV	BSND:NM_057176:exon3:c.G309C:p.E103D	Bartter syndrome, type 4a, Autosomal recessive;Sensorineural deafness with mild renal dysfunction, Autosomal recessive	0	1511	10	1	0	12	0.00395517	.	.	.	228489	Inborn_genetic_diseases|Bartter_syndrome|not_specified|not_provided|Bartter_disease_type_4A	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0015231,MedGen:C0004775,OMIM:PS601678,Orphanet:112|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011242,MedGen:C1865270,OMIM:602522,Orphanet:112	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.081	0.0130667330526	0.0002	0.000199681	0.0006	0	8.658e-05	0.0010	0.0006	0.0008	0.0022	0.0002	0.0004981	77	154602	rs200246335	0.0003	0.0003	0.0003	0.0003	0.0014	0.0003	0.0003	0.0011	0.0010	2.987e-05	0	0	0.0014	0.0003	0.0012	0.0003	0.0008	0.0003	0.0004	0.0004	0.0003	0.0005	0.0031	0.0003	0.0003	0.0019	0.0016	2.406e-05	0	0	0	0.0031	9.425e-05	0	0.0006	0.0005	0.0002	0.249	0.17183	T	0.346	0.17696	T	0.04	0.21238	B	0.026	0.20792	B	0.026292	0.25944	N	0.309833	0.941263	0.26784	N	1.445	0.36358	L	-0.46	0.70014	T	-1.09	0.28290	N	0.302	0.34120	-0.9863	0.33518	T	0.174	0.51722	T	10	0.0381369	0.02212	T	0.013067	0.32181	T	0.081	0.23632	0.19	0.10039	0.691832038465	0.68918	0.5054262971068186	0.50464	0.155653710383	0.17567	0.433333933353	0.29664	T	0.494106	0.81739	T	-0.488601	0.00661	T	-0.481402	0.24297	T	0.0315409933461791	0.02233	T	0.558444	0.19458	T	0.051055722	0.09317	0.054671142	0.09447	0.051055722	0.09317	0.054671142	0.09447	-3.813	0.20999	T	.	.	.	.	.	.	.	0.989017	0.13669	10.21	0.98944390704578544	0.48997	0.41072	0.26577	N	AEFBI	0.086862	0.17611	N	-0.694814081767141	0.16168	0.8213778	-0.669921024953416	0.17715	0.9431522	0.0134102304625365	0.12460	0.57788	0.32782	0	0.59043	0.45803	0	0.608075	0.38828	0	0.542086	0.14980	0	.	.	3.89	-0.395	0.11811	0.155000	0.16180	-0.035000	0.12744	-0.182000	0.10109	0.992000	0.37556	0.162000	0.23270	0.444000	0.27761	0.3194:0.1763:0.3241:0.1802	0.508	0.00552	946	0.12043	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05263	2402.81	35	chr1	55007033	.	G	C	2402.81	.	AC=2;AF=0.053;AN=38;DP=715;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=29.66;SOR=1.416	GT:AD:DP:GQ:PL	1/1:0,81:81:99:2430,243,0	18	1	0	0
chr1	59904999	59904999	C	T	exonic	CYP2J2	.	nonsynonymous SNV	CYP2J2:NM_000775:exon7:c.G1063A:p.A355T	.	420	1045	55	2	0	59	0.0274546	.	.	.	2808929	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.102	0.015105775827	0.0011	0.000998403	0.0018	0.0006	0.0007	0	0.0002	0.0011	0.0055	0.0078	0.0015524	240	154602	rs144856672	0.0012	0.0012	0.0009	0.0014	0.0184	0.0011	0.0011	0.0155	0.0145	0.0007	0.0011	3.827e-05	7.56e-05	0	0.0184	0.0006	0.0017	0.0085	0.0010	0.0010	0.0009	0.0011	0.0085	0.0009	0.0008	0.0065	0.0057	0.0006	0	0.0012	0	0	0	0.0102	0.0008	0.0043	0.0085	0.024	0.47745	D	0.006	0.70582	D	0.002	0.09854	B	0.015	0.17295	B	0.395206	0.13200	N	0.748294	0.999761	0.20447	N	1.79	0.46772	L	-0.34	0.68474	T	0.11	0.05706	N	0.035	0.01004	-0.9203	0.45513	T	0.166	0.50356	T	10	0.0077751577	0.00177	T	0.015106	0.35650	T	0.102	0.29158	.	.	0.519783508757	0.51621	0.3072233096902115	0.30635	0.121399189347	0.13675	0.226801514626	0.01740	T	0.113322	0.43027	T	-0.579393	0.00194	T	-0.599907	0.12819	T	0.023003499802571	0.01024	T	0.765923	0.39354	T	0.063747086	0.13454	0.08463631	0.19484	0.063747086	0.13453	0.08463631	0.19483	-4.378	0.29257	T	.	.	0.078	0.06990	B	.	.	0.592324	0.09609	6.382	0.99512910124413778	0.68739	0.25292	0.22655	N	AEFI	0.434115	0.49529	N	-0.680728933999535	0.16572	0.8454822	-0.632723241483656	0.18655	0.9974999	0.00716124955779844	0.11400	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.95	2.94	0.33188	0.084000	0.14738	-9.174000	0.00857	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.336000	0.25340	0.1638:0.6205:0.1376:0.0781	5.067	0.13926	912	0.21483	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009567	0.000000	0.009511	0.017544	0.000000	0.025862	0.003049	0.011364	0.07895	4415.79	35	chr1	59904999	.	C	T	4415.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.317;DP=946;ExcessHet=0.3672;FS=1.227;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=11.56;ReadPosRankSum=-0.86;SOR=0.767	GT:AD:DP:GQ:PL	0/1:65,54:119:99:1292,0,1508	16	0	3	0
chr1	67200750	67200750	G	A	exonic	IL23R	.	nonsynonymous SNV	IL23R:NM_144701:exon5:c.G505A:p.E169K	.	424	1097	1	0	0	1	0.000455581	.	.	.	1993015	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.110	0.00993329958075	.	.	8.241e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs769559634	6.159e-06	6.157e-06	6.809e-06	5.502e-06	0.0002	2.9e-06	2.1e-06	1.32e-06	9.6e-07	2.988e-05	2.236e-05	0	0	0	0.0002	4.498e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.40068	D	0.0	0.92824	D	0.995	0.67487	D	0.893	0.63340	P	0.002885	0.35770	N	0.265778	0.990757	0.41229	D	2.47	0.71715	M	1.3	0.35590	T	-1.48	0.36189	N	0.415	0.45520	-1.0577	0.12337	T	0.093	0.35444	T	10	0.3867667	0.54598	T	0.009933	0.25856	T	0.110	0.31079	0.406	0.43902	0.613194787705	0.61007	0.5868026998829159	0.58610	0.195167961447	0.21852	0.483757287264	0.36574	T	0.114436	0.43226	T	-0.0834693	0.39150	T	-0.274809	0.47334	T	0.788287162780762	0.45577	D	0.868313	0.57032	D	0.19819616	0.41713	0.11299868	0.27268	0.19819616	0.41712	0.11299868	0.27268	-3.247	0.13063	T	.	.	0.109	0.20780	B	.	.	4.708600	0.75617	26.4	0.998626107887429	0.94093	0.85530	0.44672	D	AEFI	0.429884	0.49282	N	0.410897657934676	0.62019	4.411389	0.441616717224418	0.64179	4.667366	4.62768121483003E-4	0.07066	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.95	5.03	0.67015	2.571000	0.45654	8.525000	0.77436	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.159:0.841:0.0	13.240	0.59422	603	0.67726	Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.025862	0.000000	0.000000	0.02632	991.33	43	chr1	67200750	.	G	A	991.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.112;DP=778;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.01;ReadPosRankSum=-0.412;SOR=0.745	GT:AD:DP:GQ:PL	0/1:55,44:99:99:1005,0,1357	18	0	1	0
chr1	75242989	75242989	T	C	exonic	SLC44A5	.	nonsynonymous SNV	SLC44A5:NM_001320283:exon6:c.A350G:p.E117G,SLC44A5:NM_001130058:exon8:c.A368G:p.E123G,SLC44A5:NM_152697:exon8:c.A368G:p.E123G,SLC44A5:NM_001320287:exon9:c.A242G:p.E81G,SLC44A5:NM_001320285:exon10:c.A242G:p.E81G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.00949827056027	.	.	8.327e-06	0	0	0	0	1.508e-05	0	0	6.5e-06	1	154602	rs779526816	3.424e-05	3.42e-05	3.952e-05	2.891e-05	0.0002	2.634e-05	2.378e-05	3.346e-05	2.958e-05	0	0	0	0	0	0.0002	4.32e-05	1.658e-05	0	6.576e-06	6.567e-06	1.286e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.02	0.49613	D	0.026	0.55759	D	0.0	0.02946	B	0.001	0.04355	B	0.000137	0.49741	D	0.206023	0.976253	0.81001	D	1.7	0.43825	L	2.19	0.18724	T	-3.09	0.63438	D	0.188	0.20528	-1.0906	0.05433	T	0.033	0.14160	T	10	0.23917201	0.41052	T	0.009498	0.24878	T	0.105	0.29889	0.433	0.48336	0.211220785272	0.20719	0.5993060004556009	0.59861	0.335466672341	0.35550	0.401461750269	0.25272	T	0.162953	0.50783	T	-0.156013	0.27375	T	-0.461878	0.26394	T	0.982545375823975	0.74556	D	0.878012	0.61435	D	0.18506406	0.39851	0.14905143	0.35208	0.18506406	0.39851	0.14905143	0.35207	-8.682	0.65628	D	.	.	0.112	0.22098	B	.;.	.;.	4.044241	0.59893	24.2	0.99759062653516162	0.84931	0.94475	0.61285	D	AEFI	0.767432	0.70330	D	0.0128721356093311	0.42440	2.557153	0.137350182893616	0.46474	2.892932	0.595639919225581	0.21683	0.638212	0.43195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.668105	0.65232	0	.	.	5.07	5.07	0.68106	5.855000	0.69252	7.841000	0.70530	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.933000	0.47100	0.0:0.0:0.0:1.0	14.135	0.64817	702	0.57624	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1253.33	37	chr1	75242989	.	T	C	1253.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.008;DP=753;ExcessHet=0;FS=0.771;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.92;ReadPosRankSum=1.21;SOR=0.572	GT:AD:DP:GQ:PL	0/1:48,49:97:99:1267,0,1323	18	0	1	0
chr1	84570699	84570699	G	C	exonic	CTBS	.	nonsynonymous SNV	CTBS:NM_004388:exon2:c.C199G:p.Q67E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.00201017570942	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	0	2.751e-06	2.322e-05	2.3e-07	9e-08	3.85e-06	1.44e-06	0	0	0	0	0	0	0	0	2.322e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.999358	0.07976	N	0.999746	1	0.08975	N	0.665	0.16292	N	1.29	0.35775	T	0.12	0.05604	N	0.126	0.11912	-0.9691	0.37386	T	0.017	0.07187	T	10	0.04462433	0.03441	T	0.00201	0.03642	T	0.051	0.14325	0.414	0.45216	0.245660935333	0.24156	0.616807181252951	0.61612	0.96923454907	0.73300	0.27088996768	0.06257	T	0.096466	0.39830	T	-0.310611	0.07695	T	-0.683948	0.06745	T	0.0261731651112609	0.01429	T	0.718628	0.33152	T	0.032754242	0.03360	0.048521314	0.07222	0.032754242	0.03359	0.048521314	0.07222	-1.808	0.02533	T	.	.	0.066	0.02118	B	.	.	0.781841	0.11518	8.118	0.76224255667896679	0.11382	0.09167	0.14977	N	AEFDGBHCI	0.055038	0.10058	N	-0.918809822348359	0.10402	0.4969282	-0.835755737648614	0.13631	0.7081323	0.999999298109266	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.59	0.835	0.18020	0.384000	0.20396	0.000000	0.13247	0.674000	0.70861	0.000000	0.06391	0.000000	0.08366	0.998000	0.85391	0.0:0.3825:0.3311:0.2865	9.523	0.38312	658	0.62094	Chitinase II	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	595.33	40	chr1	84570699	.	G	C	595.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.454;DP=739;ExcessHet=0;FS=3.423;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.5;ReadPosRankSum=1.16;SOR=0.346	GT:AD:DP:GQ:PL	0/1:40,30:70:99:609,0,1032	18	0	1	0
chr1	85158757	85158757	C	G	exonic	SYDE2	.	nonsynonymous SNV	SYDE2:NM_032184:exon7:c.G3578C:p.S1193T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00707251258688	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.064	0.44905	T	0.132	0.27209	B	0.031	0.21939	B	0.000003	0.62929	D	0.141141	0.856995	0.28413	N	2.89	0.83701	M	3.03	0.08898	T	-1.07	0.27876	N	0.197	0.21710	-1.0013	0.29545	T	0.008	0.02926	T	10	0.10845104	0.20189	T	0.007073	0.18731	T	0.060	0.17295	0.133	0.03747	0.115124310173	0.11017	0.1666088604543345	0.16580	0.261245587848	0.28675	0.516227483749	0.41095	T	0.015102	0.12732	T	-0.18471	0.23038	T	-0.503099	0.22027	T	0.930839061737061	0.59580	D	0.288071	0.05188	T	0.4173487	0.61915	0.2945027	0.55481	0.4173487	0.61916	0.2945027	0.55480	-4.469	0.30481	T	.	.	0.083	0.09094	B	.	.	1.981754	0.25175	16.67	0.98157459387076473	0.38747	0.94396	0.61032	D	AEFGBI	0.405519	0.47837	N	-0.0772867669948402	0.38391	2.247741	0.106188889006462	0.44865	2.760029	0.995644873868107	0.34242	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.97	5.05	0.67566	3.147000	0.50335	2.710000	0.34229	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.7371:0.2629:0.0	15.424	0.74759	676	0.60355	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3667	2786.57	79	chr1	85158757	.	C	G	2786.57	.	AC=11;AF=0.367;AN=30;BaseQRankSum=-0.484;DP=1521;ExcessHet=8.9063;FS=149.533;InbreedingCoeff=-0.52;MLEAC=13;MLEAF=0.433;MQ=60;MQRankSum=0;QD=3.54;ReadPosRankSum=0.467;SOR=10.041	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:62,22:96:99:.:.:230,0,846:.	4	0	11	4
chr1	88983825	88983825	-	TTTTTTTTTTTT	exonic	RBMXL1	.	nonframeshift insertion	RBMXL1:NM_019610:exon2:c.1_2insAAAAAAAAAAAA:p.M1M,RBMXL1:NM_001162536:exon3:c.1_2insAAAAAAAAAAAA:p.M1M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0005	0.0003	0.0004	0	0.0002	0	7.479e-05	.	.	.	rs772008437	1.699e-05	0.0038	2.15e-05	1.25e-05	7.993e-05	1.087e-05	8.76e-06	1.322e-05	7.54e-06	7.993e-05	0	0	0	0	0	1.661e-05	4.337e-05	1.429e-05	0.0014	0.0062	0.0015	0.0013	0.0051	0.0012	0.0012	0.0045	0.0043	0.0051	0	0.0007	0	0	0	0	0	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	766.48	114	chr1	88983825	.	A	ATTTTTTTTTTTT	766.48	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.337;DP=1931;ExcessHet=0.3672;FS=4.551;InbreedingCoeff=-0.0857;MLEAC=1;MLEAF=0.026;MQ=58.71;MQRankSum=-8.05;QD=2.27;ReadPosRankSum=-0.246;SOR=1.204	GT:AD:DP:GQ:PL	0/1:115,7:137:72:195,0,4882	18	0	1	0
chr1	89933291	89933291	G	A	exonic	LRRC8D	.	nonsynonymous SNV	LRRC8D:NM_001134479:exon3:c.G223A:p.V75I,LRRC8D:NM_018103:exon3:c.G223A:p.V75I	.	424	1097	1	0	0	1	0.000455581	.	.	.	3288080	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.054	0.005869410284	7.7e-05	.	0.0002	0	8.672e-05	0	0	0.0003	0	0.0002	0.0001552	24	154602	rs200937607	0.0001	0.0001	0.0001	0.0002	0.0002	0.0001	0.0001	0.0001	0.0001	0	0.0001	0.0018	0	0	0	0.0001	0.0002	0.0002	0.0001	0.0001	0.0001	0.0001	0.0003	9.147e-05	7.703e-05	0.0001	8.286e-05	0	0	0.0003	0.0014	0	0	0	0.0001	0.0005	0	0.272	0.20532	T	0.474	0.12993	T	0.0	0.02946	B	0.002	0.06944	B	0.831594	0.09102	N	0.920454	1	0.08975	N	0	0.06538	N	1.49	0.44461	T	-0.04	0.12472	N	0.016	0.00717	-0.9715	0.36883	T	0.015	0.05801	T	9	0.01427424	0.00301	T	0.005869	0.15281	T	0.054	0.15330	.	.	0.187035705434	0.18338	0.06505639114673414	0.06444	0.470340502162	0.46312	0.284429430962	0.08118	T	0.012107	0.10698	T	-0.481868	0.00721	T	-0.629622	0.10443	T	0.010870267637074	0.00155	T	0.518948	0.18281	T	0.08038302	0.18417	0.036254894	0.03036	0.08038302	0.18416	0.036254894	0.03036	-3.566	0.17367	T	.	.	0.068	0.05935	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.212456	0.03027	0.463	0.86747476219819053	0.16745	0.14602	0.18489	N	AEFDBHI	0.099741	0.20071	N	-1.01206696687564	0.08353	0.3913383	-0.978333237273347	0.10273	0.5163077	0.999993936372159	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	6.07	-0.289	0.12214	0.355000	0.19902	0.288000	0.16841	0.676000	0.76740	0.510000	0.27033	0.002000	0.18203	0.236000	0.22896	0.4096:0.1104:0.3544:0.1256	2.257	0.03810	815	0.41851	LRRC8, pannexin-like TM region;LRRC8, pannexin-like TM region;LRRC8, pannexin-like TM region;LRRC8, pannexin-like TM region;LRRC8, pannexin-like TM region;LRRC8, pannexin-like TM region	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	3320.33	33	chr1	89933291	.	G	A	3320.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.961;DP=845;ExcessHet=0;FS=8.529;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.02;ReadPosRankSum=0.237;SOR=0.977	GT:AD:DP:GQ:PL	0/1:103,118:221:99:3334,0,2673	18	0	1	0
chr1	99884396	99884396	T	C	exonic	AGL	.	nonsynonymous SNV	AGL:NM_000028:exon19:c.T2491C:p.Y831H,AGL:NM_000642:exon19:c.T2491C:p.Y831H,AGL:NM_000643:exon19:c.T2491C:p.Y831H,AGL:NM_000644:exon19:c.T2491C:p.Y831H,AGL:NM_000646:exon19:c.T2443C:p.Y815H	Glycogen storage disease IIIa, Autosomal recessive;Glycogen storage disease IIIb, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	1488844	Glycogen_storage_disease_type_III	MONDO:MONDO:0009291,MedGen:C0017922,OMIM:232400,Orphanet:366	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.081	0.00911862377621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.401e-06	7.43e-05	1.397e-06	1.405e-06	1.848e-06	2.3e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.848e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.39097	T	0.473	0.12142	T	0.517	0.50474	P	0.109	0.47728	B	0.002293	0.36846	N	0.305907	0.99907	0.46009	D	2.045	0.56016	M	1.57	0.29342	T	-0.65	0.18877	N	0.272	0.33250	-1.1132	0.02809	T	0.049	0.20711	T	10	0.27782464	0.45351	T	0.009119	0.23988	T	0.081	0.23632	0.336	0.32491	0.479744053436	0.47606	0.606268470227836	0.60557	0.11555191635	0.13036	0.707347929478	0.68209	T	0.099441	0.40426	T	-0.125642	0.32204	T	-0.418252	0.31276	T	0.677078485488892	0.39656	D	0.937306	0.76420	D	0.20774648	0.42990	0.14135508	0.33665	0.20774648	0.42990	0.14135508	0.33664	-6.617	0.51183	T	0.20745740101029875	0.27728	0.195	0.49038	B	.;.;.;.;.	.;.;.;.;.	3.365396	0.46485	22.3	0.99621718597315734	0.75473	0.99680	0.98609	D	AEBI	0.860591	0.77848	D	0.379094507883598	0.60291	4.216405	0.481746564574198	0.66782	4.996979	0.999723963512748	0.42220	0.651	0.46895	0	0.708844	0.79440	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	5.8	5.8	0.92081	7.619000	0.82253	7.878000	0.72341	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	16.134	0.81276	855	0.34697	Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3947	4455.13	82	chr1	99884396	.	T	C	4455.13	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-4.146;DP=2242;ExcessHet=20.8569;FS=143.104;InbreedingCoeff=-0.6543;MLEAC=15;MLEAF=0.395;MQ=60;MQRankSum=0;QD=2.39;ReadPosRankSum=1.3;SOR=12.047	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:85,35:120:99:.:.:445,0,1843:.	4	0	15	0
chr1	99884400	99884400	T	C	exonic	AGL	.	nonsynonymous SNV	AGL:NM_000028:exon19:c.T2495C:p.I832T,AGL:NM_000642:exon19:c.T2495C:p.I832T,AGL:NM_000643:exon19:c.T2495C:p.I832T,AGL:NM_000644:exon19:c.T2495C:p.I832T,AGL:NM_000646:exon19:c.T2447C:p.I816T	Glycogen storage disease IIIa, Autosomal recessive;Glycogen storage disease IIIb, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.0122640309764	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.38e-06	6.716e-05	1.374e-06	1.386e-06	9.081e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	9.081e-07	1.668e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.27426	T	0.026	0.56640	D	0.0	0.21573	B	0.001	0.24526	B	0.000055	0.53742	D	0.164392	0.996604	0.43303	D	0.75	0.19020	N	1.65	0.27650	T	-0.36	0.13035	N	0.436	0.50327	-1.0535	0.13440	T	0.016	0.06711	T	10	0.188252	0.34372	T	0.012264	0.30673	T	0.153	0.40148	0.481	0.56142	0.347438807231	0.34349	0.6957915828848406	0.69520	0.0479730424621	0.05229	0.57926928997	0.49983	T	0.024605	0.18561	T	-0.114689	0.33995	T	-0.402519	0.33091	T	0.689807772636414	0.40239	D	0.921208	0.71446	D	0.15030582	0.34224	0.15235546	0.35850	0.15030582	0.34224	0.15235546	0.35849	-7.468	0.57385	T	0.12742211284755814	0.13043	0.196	0.46493	B	.;.;.;.;.	.;.;.;.;.	3.585879	0.50577	23.0	0.98956683015017666	0.49246	0.98949	0.89045	D	AEFBI	0.617707	0.60379	D	-0.259290584713923	0.30734	1.716485	0.0117534508968653	0.40260	2.399848	0.999723963512748	0.42220	0.651	0.46895	0	0.708844	0.79440	0	0.670488	0.60580	0	0.683762	0.67416	0	.	.	5.8	5.8	0.92081	5.882000	0.69458	7.878000	0.72341	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	16.134	0.81276	855	0.34697	Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2105	2128.93	50	chr1	99884400	.	T	C	2128.93	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-3.929;DP=2013;ExcessHet=4.0268;FS=140.901;InbreedingCoeff=-0.2737;MLEAC=8;MLEAF=0.211;MQ=60;MQRankSum=0;QD=2.14;ReadPosRankSum=1.54;SOR=11.374	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:98,25:123:94:.:.:94,0,3504:.	11	0	8	0
chr1	109507558	109507558	C	T	exonic	AMIGO1	.	nonsynonymous SNV	AMIGO1:NM_020703:exon2:c.G1355A:p.G452D	.	426	1093	3	0	0	3	0.00137049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.0117909354897	0.0061	0.00139776	0.0043	0.0013	0.0012	0	0.0035	0.0067	0.0011	0.0014	0.0041138	636	154602	rs150743133	0.0058	0.0058	0.0060	0.0055	0.0067	0.0056	0.0056	0.0065	0.0065	0.0011	0.0011	0.0138	0	0.0025	0.0005	0.0067	0.0053	0.0012	0.0043	0.0043	0.0046	0.0040	0.0074	0.0040	0.0039	0.0069	0.0067	0.0012	0	0.0022	0.0124	0	0.0012	0	0.0074	0.0038	0.0010	0.01	0.56456	D	0.027	0.55341	D	0.041	0.21357	B	0.039	0.23607	B	0.000014	0.62929	D	0.000000	1	0.81001	D	1.965	0.53209	M	0.67	0.52187	T	-2.41	0.52938	N	0.168	0.17828	-1.0299	0.20487	T	0.082	0.32324	T	10	0.0061337054	0.00138	T	0.011791	0.29763	T	0.117	0.32689	.	.	0.393344232652	0.38951	0.3814148129454224	0.38056	1.36435413803	0.84409	0.753759682178	0.75001	T	0.037111	0.24353	T	-0.402595	0.02227	T	-0.343114	0.39993	T	0.0333741735370918	0.02533	T	0.680532	0.28920	T	0.29802302	0.52727	0.4080348	0.65132	0.29802302	0.52727	0.4080348	0.65132	-4.496	0.30836	T	.	.	0.736	0.75962	P	.;.	.;.	2.705375	0.35350	19.87	0.97847218796178614	0.36372	0.82648	0.41847	D	AEFBCI	0.376649	0.46071	N	0.0277205920441553	0.43118	2.611094	0.186926253722748	0.49131	3.119978	0.990730619439424	0.32251	0.646311	0.45356	0	0.610034	0.51514	0	0.645312	0.48771	0	0.586402	0.36253	0	.	.	6.17	5.27	0.73797	0.869000	0.27648	4.889000	0.45745	0.599000	0.40250	0.510000	0.27033	1.000000	0.68203	0.999000	0.91618	0.0:0.9292:0.0:0.0708	14.528	0.67489	619	0.66147	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.010101	0.000000	0.000000	0.050000	0.000000	0.003049	0.000000	0.02632	3058.33	38	chr1	109507558	.	C	T	3058.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.565;DP=846;ExcessHet=0;FS=1.774;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.93;ReadPosRankSum=-2.102;SOR=0.834	GT:AD:DP:GQ:PL	0/1:87,105:192:99:3072,0,2283	18	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	.	.	.	.	.	.	.	.	0.2941	1618.97	110	chr1	109508616	.	G	C	1618.97	.	AC=10;AF=0.294;AN=34;BaseQRankSum=-3.579;DP=1667;ExcessHet=6.9875;FS=173.456;InbreedingCoeff=-0.4061;MLEAC=11;MLEAF=0.324;MQ=60;MQRankSum=0;QD=1.56;ReadPosRankSum=1.36;SOR=9.781	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:79,37:123:99:.:.:283,0,1821:.	7	0	10	2
chr1	110037895	110037895	A	G	exonic	STRIP1	.	nonsynonymous SNV	STRIP1:NM_033088:exon2:c.A185G:p.Y62C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.0145341745075	.	.	1.648e-05	0	0	0	0	1.499e-05	0	6.057e-05	1.29e-05	2	154602	rs769394836	7.55e-06	8.893e-06	8.198e-06	6.895e-06	0.0002	4.05e-06	2.96e-06	3.85e-06	1.44e-06	0	0	0	0	0	0.0002	5.416e-06	3.322e-05	2.321e-05	6.583e-06	6.568e-06	1.287e-05	0	2.42e-05	0	0	.	.	2.42e-05	0	0	0	0	0	0	0	0	0	0.156	0.24090	T	0.178	0.29639	T	0.895	0.49247	P	0.428	0.45338	B	0.000056	0.53742	D	0.133192	0.986576	0.81001	D	1.59	0.40313	L	0.97	0.42502	T	-1.03	0.27052	N	0.196	0.21580	-1.1023	0.03824	T	0.040	0.17277	T	10	0.21280825	0.37752	T	0.014534	0.34707	T	0.119	0.33137	0.372	0.38340	0.260249123532	0.25628	0.23235418891319906	0.23150	0.729512649434	0.62671	0.891305983067	0.95421	D	0.04525	0.27065	T	-0.168383	0.25480	T	-0.382793	0.35396	T	0.695480763912201	0.40504	D	0.974353	0.90870	D	0.1384747	0.32023	0.057395145	0.10427	0.1384747	0.32023	0.057395145	0.10426	-4.72	0.33645	T	.	.	0.065	0.01934	B	.	.	2.051733	0.26084	16.99	0.99488224224290223	0.67291	0.92240	0.55259	D	AEFBI	0.398769	0.47431	N	0.0705000814936739	0.45090	2.771468	0.143581636667422	0.46803	2.920376	0.999855453661968	0.44174	0.744818	0.98587	0	0.732433	0.95613	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.22	5.22	0.72285	0.627000	0.24200	2.207000	0.31336	0.756000	0.94297	0.938000	0.32564	1.000000	0.68203	0.842000	0.39752	0.8628:0.0:0.0:0.1372	11.209	0.48015	253	0.90069	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1296.33	42	chr1	110037895	.	A	G	1296.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.362;DP=742;ExcessHet=0;FS=0.705;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.57;ReadPosRankSum=-0.457;SOR=0.565	GT:AD:DP:GQ:PL	0/1:56,56:112:99:1310,0,1315	18	0	1	0
chr1	110222977	110222977	C	G	exonic	KCNC4	.	nonsynonymous SNV	KCNC4:NM_001039574:exon2:c.C692G:p.A231G,KCNC4:NM_001377330:exon2:c.C692G:p.A231G,KCNC4:NM_004978:exon2:c.C692G:p.A231G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.456	0.0722916072849	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0034	0.0008	0.0006	0.0008	0.0007	0.0006	0.0008	0.0008	0.0008	0	0.0003	0.0002	1.877e-05	0.0002	0.0008	0.0008	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.35918	T	0.315	0.21144	T	0.051	0.42493	B	0.157	0.41053	B	0.000921	0.41028	D	0.275191	0.99437	0.42258	D	2.415	0.69758	M	-4.19	0.96908	D	-2.8	0.59226	D	0.438	0.47672	0.589	0.91750	D	0.723	0.90514	D	10	0.35339242	0.52146	T	0.072292	0.71493	D	0.456	0.75483	0.363	0.36874	0.993177892102	0.99310	0.7526387987383419	0.75210	1.08132311467	0.77145	0.672360956669	0.63174	T	0.667086	0.90076	D	0.175355	0.71615	D	0.0141088	0.71248	D	0.842766284942627	0.49555	D	0.923008	0.74652	D	0.2548791	0.48519	0.22605044	0.47570	0.2548791	0.48519	0.22605044	0.47569	-8.263	0.63102	D	.	.	0.237	0.47944	B	.;.;.	.;.;.	3.598856	0.50823	23.0	0.99047415397653182	0.51162	0.96210	0.68040	D	AEFDGBI	0.477094	0.52023	N	0.0886515093145786	0.45935	2.841749	0.218624017239798	0.50879	3.275622	0.993656479131254	0.33302	0.651	0.46895	0	0.588066	0.40923	0	0.723109	0.80598	0	0.683762	0.67416	0	.	.	4.88	4.88	0.63131	2.965000	0.48892	7.666000	0.64515	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.9187:0.0:0.0813	11.857	0.51719	702	0.57624	Ion transport domain;Ion transport domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2941	2216.57	41	chr1	110222977	.	C	G	2216.57	.	AC=10;AF=0.294;AN=34;BaseQRankSum=-2.991;DP=2097;ExcessHet=6.9875;FS=75.345;InbreedingCoeff=-0.4467;MLEAC=11;MLEAF=0.324;MQ=60;MQRankSum=0;QD=1.71;ReadPosRankSum=1.23;SOR=10.846	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,18:111:56:0|1:110222977_C_G:56,0,3472:110222977	7	0	10	2
chr1	110222980	110222980	C	G	exonic	KCNC4	.	nonsynonymous SNV	KCNC4:NM_001039574:exon2:c.C695G:p.S232C,KCNC4:NM_001377330:exon2:c.C695G:p.S232C,KCNC4:NM_004978:exon2:c.C695G:p.S232C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.929	0.40933610176	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.636e-05	0.0009	7.295e-05	5.971e-05	8.013e-05	5.553e-05	5.161e-05	6.603e-05	6.157e-05	3.015e-05	0	0	2.525e-05	0	0	8.013e-05	6.68e-05	2.327e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.992	0.90584	D	0.945	0.73362	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.905	0.96153	H	-4.48	0.97606	D	-4.53	0.78388	D	0.831	0.82660	1.099	0.99607	D	0.949	0.98331	D	10	0.8837731	0.87697	D	0.409336	0.93564	D	0.929	0.98304	0.653	0.79068	0.998239969463	0.99822	0.9428938060723817	0.94271	2.16590570783	0.95413	0.900061309338	0.96447	D	0.865354	0.97046	D	0.507574	0.94527	D	0.491319	0.94446	D	0.996615469455719	0.89714	D	0.968103	0.88413	D	0.81521255	0.84899	0.67973554	0.81184	0.81521255	0.84900	0.67973554	0.81185	-14.23	0.93792	D	.	.	0.990	0.93569	P	.;.;.	.;.;.	5.345809	0.89688	31	0.99023122748486747	0.50634	0.99055	0.90567	D	AEFDGBI	0.873031	0.79518	D	0.820546623686913	0.87372	9.195578	0.766985295263051	0.87421	9.215925	0.999999999988739	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.88	4.88	0.63131	7.905000	0.86479	7.666000	0.64515	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	18.385	0.90408	702	0.57624	Ion transport domain;Ion transport domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2895	2139.97	41	chr1	110222980	.	C	G	2139.97	.	AC=11;AF=0.289;AN=38;BaseQRankSum=-4.477;DP=2106;ExcessHet=8.9063;FS=71.671;InbreedingCoeff=-0.4138;MLEAC=11;MLEAF=0.289;MQ=60;MQRankSum=0;QD=1.5;ReadPosRankSum=1.45;SOR=10.765	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,18:111:56:0|1:110222977_C_G:56,0,3472:110222977	8	0	11	0
chr1	110389302	110389302	C	G	exonic	SLC16A4	.	nonsynonymous SNV	SLC16A4:NM_001201546:exon2:c.G22C:p.V8L,SLC16A4:NM_001201549:exon2:c.G22C:p.V8L,SLC16A4:NM_004696:exon2:c.G22C:p.V8L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.00212879737562	0.0002	0.000199681	8.239e-06	9.623e-05	0	0	0	0	0	0	1.29e-05	2	154602	rs145802391	1.312e-05	0.0002	1.375e-05	1.248e-05	0.0002	8.39e-06	6.76e-06	7.874e-05	5.345e-05	0.0002	0	0	0	0	0	1.182e-05	0	0	7.223e-05	7.219e-05	7.71e-05	6.714e-05	0.0003	3.969e-05	3.126e-05	0.0001	0.0001	0.0003	0	0	0	0	0	0	0	0	0	0.298	0.14595	T	0.931	0.11968	T	0.0	0.02946	B	0.0	0.01387	B	0.019103	0.01503	N	2.300800	1	0.08975	N	0	0.06538	N	2.6	0.14907	T	-0.47	0.16393	N	0.05	0.04547	-0.9771	0.35660	T	0.006	0.02168	T	10	0.02878058	0.01008	T	0.002129	0.03962	T	0.005	0.00259	.	.	0.301789629655	0.29801	0.31041469184294535	0.30954	0.0900300259847	0.10153	0.257182478905	0.04561	T	0.001742	0.01167	T	-0.540625	0.00332	T	-0.832819	0.01213	T	0.0624817921216558	0.07554	T	0.390761	0.09705	T	0.04574854	0.07541	0.026506951	0.00743	0.04574854	0.07541	0.026506951	0.00743	-4.14	0.26228	T	.	.	0.091	0.26200	B	.;.;.	.;.;.	0.054984	0.04675	1.322	0.31699489746804305	0.01800	0.06736	0.12758	N	AEFBI	0.148459	0.27235	N	-1.43033376415165	0.02376	0.1048416	-1.47232502665425	0.02574	0.1186023	0.999938366168924	0.46732	0.615465	0.37627	0	0.601575	0.49859	0	0.536957	0.11973	0	0.655142	0.61905	0	.	.	4.86	-4.46	0.03288	-1.177000	0.03206	-1.175000	0.06113	-0.202000	0.08738	0.000000	0.06391	0.000000	0.08366	0.069000	0.16583	0.1243:0.1831:0.235:0.4576	1.895	0.03058	881	0.29269	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	190.33	33	chr1	110389302	.	C	G	190.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-6.735;DP=833;ExcessHet=0;FS=152.839;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.95;ReadPosRankSum=1.19;SOR=7.275	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:163,37:200:99:0|1:110389302_C_G:204,0,5497:110389302	18	0	1	0
chr1	110389303	110389303	C	G	exonic	SLC16A4	.	nonsynonymous SNV	SLC16A4:NM_001201546:exon2:c.G21C:p.K7N,SLC16A4:NM_001201549:exon2:c.G21C:p.K7N,SLC16A4:NM_004696:exon2:c.G21C:p.K7N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.00734110632761	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.747e-06	0.0001	4.101e-06	1.38e-06	3.613e-06	6.4e-07	4.3e-07	8.5e-07	5.7e-07	0	0	0	0	0	0	3.613e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.57480	T	0.037	0.65728	D	0.99	0.63424	D	0.807	0.58472	P	0.000965	0.40836	D	0.239424	1	0.18612	N	2.24	0.63355	M	2.46	0.16794	T	-1.47	0.35991	N	0.085	0.10198	-1.0735	0.08660	T	0.036	0.15683	T	10	0.14996457	0.28372	T	0.007341	0.19469	T	0.039	0.10176	0.325	0.30711	0.39694197178	0.39312	0.4134125413857456	0.41257	0.299305296007	0.32296	0.354113519192	0.18526	T	0.005628	0.05080	T	-0.314312	0.07374	T	-0.689264	0.06431	T	0.654102385044098	0.38639	D	0.539346	0.18229	T	0.06677205	0.14398	0.04971416	0.07653	0.06677205	0.14398	0.04971416	0.07652	-5.427	0.41178	T	.	.	0.158	0.38318	B	.;.;.	.;.;.	2.038442	0.25908	16.93	0.99010636366575266	0.50356	0.16231	0.19292	N	AEFBI	0.189295	0.31655	N	-0.581731543493659	0.19499	1.021038	-0.747977652592744	0.15772	0.8311527	0.999418438922167	0.39577	0.615465	0.37627	0	0.601575	0.49859	0	0.536957	0.11973	0	0.655142	0.61905	0	.	.	4.86	0.861	0.18186	-0.289000	0.08401	-0.047000	0.12595	-0.176000	0.10722	0.000000	0.06391	0.000000	0.08366	0.072000	0.16771	0.0:0.5388:0.0:0.4612	7.529	0.26841	881	0.29269	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	190.33	33	chr1	110389303	.	C	G	190.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-6.281;DP=834;ExcessHet=0;FS=152.839;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.95;ReadPosRankSum=0.978;SOR=7.275	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:163,37:200:99:0|1:110389302_C_G:204,0,5497:110389302	18	0	1	0
chr1	112913901	112913901	C	G	exonic	SLC16A1	.	nonsynonymous SNV	SLC16A1:NM_001166496:exon5:c.G1493C:p.S498T,SLC16A1:NM_003051:exon5:c.G1493C:p.S498T	Erythrocyte lactate transporter defect, Autosomal dominant;Hyperinsulinemic hypoglycemia, familial, 7, Autosomal dominant;Monocarboxylate transporter 1 deficiency, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.00694427549183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.514e-05	0.0014	1.781e-05	1.244e-05	1.721e-05	9.91e-06	8.47e-06	1.101e-05	8.87e-06	0	0	0	0	0	0	1.721e-05	3.328e-05	1.162e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.406	0.10278	T	0.345	0.17750	T	0.019	0.17989	B	0.006	0.12133	B	0.000194	0.00507	N	3.613670	0.514651	0.31619	N	0.55	0.14455	N	1.89	0.23688	T	0.05	0.06369	N	0.31	0.34981	-0.9605	0.39087	T	0.016	0.06377	T	10	0.06500685	0.08706	T	0.006944	0.18374	T	0.050	0.13987	0.136	0.04008	0.206203607746	0.20212	0.25754088764728017	0.25668	0.358157990037	0.37530	0.395360171795	0.24422	T	0.083635	0.37098	T	-0.185342	0.22944	T	-0.504008	0.21933	T	0.148207157850266	0.16960	T	.	.	.	0.09177888	0.21514	0.055201277	0.09640	0.09177888	0.21514	0.055201277	0.09639	-2.577	0.06330	T	.	.	0.073	0.04558	B	.;.	.;.	1.617359	0.20662	14.85	0.80462772014093309	0.13214	0.95587	0.65318	D	AEFBI	0.400058	0.47510	N	-0.522399086346691	0.21356	1.132814	-0.357056128764837	0.26292	1.451256	0.85627841051563	0.25139	0.722319	0.85440	0	0.724815	0.89359	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.94	2.7	0.31007	1.588000	0.36242	0.013000	0.13471	0.599000	0.40250	1.000000	0.71638	0.000000	0.08366	0.972000	0.54974	0.1496:0.6559:0.0:0.1945	6.367	0.20666	822	0.40702	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3684	2088.26	101	chr1	112913901	.	C	G	2088.26	.	AC=14;AF=0.368;AN=38;BaseQRankSum=-3.359;DP=1774;ExcessHet=17.0548;FS=69.726;InbreedingCoeff=-0.5826;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=1.57;ReadPosRankSum=1.26;SOR=10.398	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:56,15:73:99:.:.:205,0,1411:.	5	0	14	0
chr1	114604995	114604995	C	T	exonic	DENND2C	.	nonsynonymous SNV	DENND2C:NM_198459:exon8:c.G1423A:p.E475K,DENND2C:NM_001256404:exon11:c.G1594A:p.E532K	.	431	1088	3	0	0	3	0.00137678	.	.	.	3426825	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.156	0.0281286796816	7.7e-05	.	4.178e-05	0	0	0.0001	0	6.09e-05	0	0	3.23e-05	5	154602	rs201938234	2.532e-05	2.531e-05	2.179e-05	2.888e-05	0.0003	1.868e-05	1.631e-05	6.099e-05	2.524e-05	5.977e-05	0	0	2.522e-05	0	0.0003	2.608e-05	3.313e-05	1.16e-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	0.122	0.59928	T	0.12	0.62352	T	0.021	0.61523	B	0.143	0.64886	B	0.000004	0.62929	D	0.107611	0.999856	0.51042	D	1.82	0.47800	L	0.99	0.41750	T	-3.2	0.65056	D	0.36	0.40164	-0.8415	0.52547	T	0.182	0.52980	T	10	0.29942054	0.47495	T	0.028129	0.50849	D	0.156	0.40720	.	.	0.608219498563	0.60507	0.3715452915690174	0.37068	0.337478114014	0.35739	0.495502650738	0.38202	T	0.045	0.26988	T	-0.23943	0.15421	T	-0.366366	0.37313	T	0.663228452205658	0.39038	D	0.887611	0.61581	D	0.37578002	0.59009	0.32875115	0.58761	0.37578002	0.59010	0.32875115	0.58760	-10.028	0.75436	D	.	.	0.262	0.49635	B	.;.;.	.;.;.	4.811074	0.78262	26.9	0.99839789518380528	0.92057	0.98243	0.80867	D	AEFBI	0.776319	0.70946	D	0.432337713277527	0.63209	4.550244	0.512305184658042	0.68818	5.272722	0.999998741836981	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	5.86	5.86	0.93936	4.502000	0.60122	7.723000	0.67399	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.889000	0.42754	0.0:1.0:0.0:0.0	20.177	0.98183	737	0.53483	.;uDENN domain|Tripartite DENN domain|uDENN domain;uDENN domain|Tripartite DENN domain|uDENN domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1329.33	33	chr1	114604995	.	C	T	1329.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.082;DP=725;ExcessHet=0;FS=0.721;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.42;ReadPosRankSum=-0.24;SOR=0.81	GT:AD:DP:GQ:PL	0/1:54,53:107:99:1343,0,1358	18	0	1	0
chr1	114732648	114732648	C	G	exonic	CSDE1	.	nonsynonymous SNV	CSDE1:NM_001242893:exon8:c.G913C:p.V305L,CSDE1:NM_001242892:exon9:c.G1006C:p.V336L,CSDE1:NM_007158:exon9:c.G913C:p.V305L,CSDE1:NM_001007553:exon10:c.G1006C:p.V336L,CSDE1:NM_001130523:exon10:c.G1051C:p.V351L,CSDE1:NM_001242891:exon11:c.G1144C:p.V382L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.00302580783907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.572e-05	0.0005	3.966e-05	3.175e-05	4.338e-05	2.774e-05	2.512e-05	3.36e-05	2.971e-05	0	0	3.834e-05	0	0	0	4.338e-05	3.322e-05	1.161e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.019	0.17989	B	0.007	0.12992	B	0.000054	0.53742	D	0.166893	0.995854	0.46032	D	-1.005	0.01165	N	.	.	.	1.46	0.00775	N	0.49	0.52651	-0.9514	0.40730	T	0.015	0.06186	T	9	0.1688331	0.31457	T	0.003026	0.06487	T	0.141	0.37795	0.283	0.23961	0.438345833192	0.43453	0.47999988597583465	0.47919	0.664778676347	0.59103	0.696112155914	0.66584	T	0.116941	0.43665	T	-0.00863497	0.50457	T	-0.25018	0.49799	T	0.698000967502594	0.40624	D	0.917108	0.76468	D	0.059146494	0.11985	0.09358893	0.22112	0.059146494	0.11985	0.09358893	0.22111	-6.727	0.59015	T	.	.	0.240	0.47513	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.228914	0.64023	24.7	0.79526294004721843	0.12782	0.91046	0.52754	D	AEFBCI	0.679294	0.64337	D	-0.4128236221243	0.25018	1.355104	-0.0758002100467609	0.36392	2.117378	0.809094888011598	0.24323	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.89	5.89	0.94758	4.456000	0.59820	7.732000	0.67763	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.1424:0.8576:0.0:0.0	15.011	0.71206	854	0.34840	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4211	6987.05	189	chr1	114732648	.	C	G	6987.05	.	AC=16;AF=0.421;AN=38;BaseQRankSum=-2.206;DP=2914;ExcessHet=25.4433;FS=278.375;InbreedingCoeff=-0.7273;MLEAC=16;MLEAF=0.421;MQ=60;MQRankSum=0;QD=3.01;ReadPosRankSum=1.01;SOR=12.498	GT:AD:DP:GQ:PL	0/1:96,55:163:99:409,0,1270	3	0	16	0
chr1	116124222	116124222	G	A	exonic	MAB21L3	.	nonsynonymous SNV	MAB21L3:NM_152367:exon4:c.G346A:p.V116M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.00710080814331	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.017	0.60337	D	0.968	0.56581	D	0.865	0.61524	P	0.454236	0.12469	N	0.709097	1	0.08975	N	2.685	0.78553	M	3.14	0.07920	T	-0.62	0.18248	N	0.468	0.50418	-1.0287	0.20876	T	0.020	0.08407	T	10	0.42313272	0.56997	T	0.007101	0.18814	T	0.083	0.24192	0.397	0.42426	0.488477830397	0.48481	0.5393875271829892	0.53863	0.344644549015	0.36394	0.310942351818	0.12049	T	0.046774	0.27524	T	-0.226786	0.17075	T	-0.563539	0.16046	T	0.750424444864637	0.43309	D	0.90251	0.65969	D	0.07058906	0.15560	0.06378657	0.12688	0.07058906	0.15559	0.06378657	0.12688	-4.43	0.29961	T	.	.	0.114	0.22644	B	.	.	3.299850	0.45293	22.1	0.99810551275314219	0.89442	0.49678	0.28488	N	AEFDBI	0.119263	0.23284	N	0.117749885454904	0.47292	2.956888	-0.019293120522756	0.38844	2.294414	0.956200762432392	0.28234	0.497415	0.19182	0	0.546412	0.12157	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.07	0.901	0.18416	2.497000	0.45014	3.633000	0.39322	0.676000	0.76740	1.000000	0.71638	0.569000	0.25561	0.988000	0.63387	0.2363:0.146:0.6177:0.0	5.612	0.16688	881	0.29269	Mab-21 domain|Mab-21 domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1375.33	36	chr1	116124222	.	G	A	1375.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.394;DP=790;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.46;ReadPosRankSum=-1.677;SOR=0.76	GT:AD:DP:GQ:PL	0/1:70,50:120:99:1389,0,2066	18	0	1	0
chr1	117992569	117992569	G	A	exonic	SPAG17	.	nonsynonymous SNV	SPAG17:NM_206996:exon36:c.C5258T:p.P1753L	.	423	1084	15	0	0	15	0.00687128	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.0194048716596	0.0011	0.00159744	0.0022	9.612e-05	0.0003	0	0.0008	0.0022	0.0011	0.0067	0.0019793	306	154602	rs138653942	0.0014	0.0014	0.0012	0.0016	0.0078	0.0013	0.0013	0.0073	0.0071	8.969e-05	0.0003	0.0036	0	0.0010	0.0042	0.0010	0.0017	0.0078	0.0012	0.0012	0.0010	0.0014	0.0098	0.0011	0.0010	0.0076	0.0068	0.0001	0	0.0007	0.0046	0	0.0008	0.0102	0.0014	0.0009	0.0098	0.426	0.41096	T	0.001	0.83351	D	0.999	0.77913	D	0.891	0.63213	P	0.002580	0.36316	N	0.312961	0.815745	0.28945	N	2.735	0.79925	M	2.06	0.20523	T	-4.57	0.83625	D	0.425	0.46462	-1.0764	0.08063	T	0.073	0.29610	T	10	0.00649935	0.00147	T	0.019405	0.41765	T	0.140	0.37593	.	.	0.535774538982	0.53228	0.4248707306109412	0.42404	0.279265533424	0.30412	0.361503064632	0.19605	T	0.098644	0.40266	T	-0.439751	0.01298	T	-0.400303	0.33349	T	0.0728390566347996	0.09044	T	0.69663	0.30630	T	0.11375114	0.26862	0.16636196	0.38436	0.15143898	0.34426	0.14953285	0.35302	-4.827	0.34905	T	0.6644099082518755	0.73840	0.111	0.24329	B	.;.	.;.	3.967373	0.58234	24.0	0.99758463967969924	0.84851	0.75001	0.36705	D	AEFI	0.343495	0.43929	N	0.409076813428699	0.61920	4.399889	0.307643509801852	0.55989	3.761703	0.0168064359160332	0.12875	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.6	5.6	0.84997	3.943000	0.56332	9.865000	0.82085	0.662000	0.56354	0.977000	0.34929	1.000000	0.68203	0.063000	0.16184	0.0:0.0:0.8423:0.1577	13.377	0.60189	632	0.64850	.;.	.	.	.	.	.	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	0.006042	0.000000	0.004076	0.002924	0.000000	0.017241	0.006098	0.011364	0.02632	1541.33	33	chr1	117992569	.	G	A	1541.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.46;DP=771;ExcessHet=0;FS=5.319;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.5;ReadPosRankSum=0.09;SOR=1.179	GT:AD:DP:GQ:PL	0/1:76,58:134:99:1555,0,1826	18	0	1	0
chr1	119383022	119383022	T	A	exonic	HAO2	.	nonsynonymous SNV	HAO2:NM_016527:exon3:c.T239A:p.F80Y,HAO2:NM_001005783:exon4:c.T278A:p.F93Y,HAO2:NM_001377472:exon4:c.T278A:p.F93Y	.	433	1055	32	2	0	36	0.0167754	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.174	0.0221846542679	0.0015	0.00119808	0.0023	0.0009	0.0026	0	0	0.0028	0.0036	0.0025	0.0020763	321	154602	rs41306185	0.0019	0.0019	0.0018	0.0020	0.0170	0.0018	0.0018	0.0143	0.0133	0.0006	0.0022	0.0010	0	0.0004	0.0170	0.0019	0.0025	0.0026	0.0016	0.0016	0.0018	0.0014	0.0024	0.0014	0.0014	0.0021	0.0019	0.0007	0	0.0018	0.0009	0	9.418e-05	0.0170	0.0024	0.0052	0.0021	0.013	0.53900	D	0.109	0.37449	T	0.186	0.29254	B	0.274	0.40037	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.28	0.32218	L	1.56	0.29602	T	-1.68	0.40082	N	0.66	0.71055	-1.0737	0.08619	T	0.046	0.19800	T	9	0.020435303	0.00471	T	0.022185	0.45053	T	0.174	0.44019	.	.	0.184867976434	0.18130	0.7442278364771182	0.74368	0.148931395982	0.16796	0.553254902363	0.46316	T	0.016884	0.39789	T	-0.371119	0.03538	T	-0.31079	0.43573	T	0.0347134229547542	0.02759	T	0.940406	0.77539	D	0.4336018	0.62987	0.30213737	0.56246	0.4336018	0.62988	0.30213737	0.56245	-4.546	0.31486	T	.	.	0.205	0.43032	B	.;.;.;.	.;.;.;.	3.012749	0.40293	21.1	0.98698266928499656	0.44866	0.98959	0.89186	D	AEFBI	0.970689	0.99290	D	0.044259173628731	0.43878	2.672305	0.151712515987709	0.47231	2.956636	0.99940961548204	0.39524	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.54	5.54	0.82907	7.565000	0.81337	6.039000	0.52998	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.068000	0.16518	0.0:0.0:0.0:1.0	15.668	0.77002	770	0.49152	FMN-dependent dehydrogenase|FMN hydroxy acid dehydrogenase domain;FMN-dependent dehydrogenase|FMN hydroxy acid dehydrogenase domain;.;FMN-dependent dehydrogenase|FMN hydroxy acid dehydrogenase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.018127	0.025253	0.020380	0.008772	0.000000	0.017241	0.024390	0.007576	0.05263	2211.83	33	chr1	119383022	.	T	A	2211.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.897;DP=765;ExcessHet=0.119;FS=0.598;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.18;ReadPosRankSum=1.42;SOR=0.602	GT:AD:DP:GQ:PL	0/1:30,36:66:99:952,0,676	17	0	2	0
chr1	119514359	119514359	G	A	exonic	HSD3B1	.	nonsynonymous SNV	HSD3B1:NM_000862:exon4:c.G836A:p.R279H,HSD3B1:NM_001328615:exon4:c.G836A:p.R279H	.	0	1500	1	0	21	22	0.000333222	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	0.0138853439636	0.0008	0.000798722	0.0015	0.0003	0.0014	0	0.0002	0.0014	0.0022	0.0039	0.0013325	206	154602	rs144711345	0.0009	0.0009	0.0008	0.0010	0.0047	0.0009	0.0009	0.0033	0.0032	0.0002	0.0015	0.0028	0	5.616e-05	0.0047	0.0007	0.0014	0.0037	0.0011	0.0011	0.0010	0.0012	0.0035	0.0009	0.0009	0.0022	0.0018	0.0006	0	0.0025	0.0035	0	9.425e-05	0.0068	0.0010	0.0019	0.0035	0.497	0.07821	T	0.296	0.20615	T	0.002	0.09854	B	0.004	0.10090	B	0.570158	0.11246	N	0.826084	0.999999	0.08975	N	1.805	0.47535	L	-2.38	0.88298	D	-1.05	0.27463	N	0.05	0.02179	-0.7049	0.60203	T	0.331	0.69860	T	10	0.00701949	0.00160	T	0.013885	0.33612	T	0.175	0.44197	.	.	0.575045364607	0.57173	0.2424975473099069	0.24163	0.0294092290554	0.03026	0.184644564986	0.00144	T	0.460938	0.79791	T	-0.49525	0.00608	T	-0.484689	0.23949	T	0.00835563811659382	0.00101	T	0.189081	0.01998	T	0.033841386	0.03683	0.027723305	0.00946	0.033841386	0.03683	0.027723305	0.00946	-2.785	0.08046	T	.	.	0.079	0.07272	B	.;.	.;.	0.070102	0.04788	1.401	0.38819267600058671	0.02641	0.06738	0.12760	N	AEFBI	0.108253	0.21541	N	-1.14973415321105	0.05784	0.2645855	-1.24184497062397	0.05253	0.2498497	1.32551340192565E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.26	-1.12	0.09306	0.555000	0.23129	-3.092000	0.03068	-0.549000	0.04906	0.000000	0.06391	0.000000	0.08366	0.194000	0.21720	0.3148:0.1618:0.5234:0.0	4.922	0.13225	631	0.64944	3-beta hydroxysteroid dehydrogenase/isomerase;3-beta hydroxysteroid dehydrogenase/isomerase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004228	0.005051	0.004076	0.000000	0.000000	0.000000	0.018293	0.003788	0.02632	3763.33	34	chr1	119514359	.	G	A	3763.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.913;DP=1025;ExcessHet=0;FS=3.425;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.36;ReadPosRankSum=0.181;SOR=0.523	GT:AD:DP:GQ:PL	0/1:113,149:262:99:3777,0,2809	18	0	1	0
chr1	121387771	121387771	C	G	exonic	SRGAP2C	.	nonsynonymous SNV	SRGAP2C:NM_001271872:exon10:c.C1293G:p.S431R,SRGAP2C:NM_001329984:exon10:c.C1296G:p.S432R	.	438	1080	3	1	0	5	0.00230947	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0	0.0021	0	0	0.0011	0	0.0020	.	.	.	rs1443626369	0.0004	0.0004	0.0003	0.0005	0.0011	0.0003	0.0003	0.0009	0.0008	0.0001	7.101e-05	4.854e-05	0	1.904e-05	0.0008	0.0004	0.0002	0.0011	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	0.0001	0.0002	0.0001	0.0001	0	0.0002	0.0003	0	0	0	0.0003	0	0	.	.	.	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.591	0.67822	.	.	.	.	.	.	.	0.0905309	0.15778	T	.	.	.	.	.	.	.	0.203808441222	0.19973	0.43492653277053134	0.43409	.	.	.	.	.	0.030889	0.21789	T	0.0571392	0.59253	T	-0.1557	0.58736	T	.	.	.	0.988801	0.96179	D	0.106369354	0.25150	0.26017722	0.51777	0.106369354	0.25150	0.26017722	0.51776	-9.371	0.70054	D	.	.	0.91	0.83446	P	.;.	.;.	3.639565	0.51593	23.1	0.85933968747431166	0.16205	0.88872	0.49013	D	AEFGI	.	.	.	.	.	.	.	.	.	0.00107197558396987	0.08194	0.262962	0.04601	0	0.304816	0.05638	0	0.292756	0.05521	0	0.330827	0.05736	0	0.737487	0.44063	2.48	2.48	0.29194	4.023000	0.56921	2.760000	0.34598	0.284000	0.18682	1.000000	0.71638	1.000000	0.68203	0.956000	0.50813	0.0:1.0:0.0:0.0	10.717	0.45219	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	.	.	.	.	.	.	.	.	0.02632	334.33	29	chr1	121387771	.	C	G	334.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.12;DP=398;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=25.19;MQRankSum=-0.671;QD=14.54;ReadPosRankSum=0.883;SOR=0.368	GT:AD:DP:GQ:PL	0/1:9,14:23:99:348,0,202	18	0	1	0
chr1	145686561	145686561	C	T	exonic	PDZK1	.	nonsynonymous SNV	PDZK1:NM_001201325:exon3:c.G376A:p.G126S,PDZK1:NM_001201326:exon3:c.G376A:p.G126S,PDZK1:NM_001371359:exon3:c.G376A:p.G126S,PDZK1:NM_002614:exon4:c.G376A:p.G126S	.	473	1038	8	3	0	14	0.00669856	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.190	0.00496683770762	.	.	.	.	.	.	.	.	.	.	.	.	.	rs148919265	0.0075	0.0075	0.0076	0.0073	0.0088	0.0073	0.0073	0.0086	0.0086	0.0012	0.0021	0.0010	0	0.0023	0.0036	0.0088	0.0058	0.0054	0.0049	0.0049	0.0052	0.0045	0.0086	0.0046	0.0045	0.0081	0.0078	0.0016	0.0011	0.0024	0.0009	0	0.0016	0	0.0086	0.0043	0.0037	0.499	0.09458	T	0.623	0.07368	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.71	0.31205	T	-0.73	0.20576	N	0.154	0.15888	.	.	.	.	.	.	.	0.013003588	0.00277	T	.	.	.	.	.	.	.	.	.	0.7411778002221158	0.74063	.	.	.	.	.	0.112208	0.42830	T	.	.	.	.	.	.	.	.	.	0.780122	0.41468	T	.	.	.	.	.	.	.	.	-1.972	0.03343	T	.	.	0.076	0.06024	B	.;.;.;.	.;.;.;.	0.171449	0.05604	2.058	.	.	.	.	.	.	0.376490	0.46062	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.379000	0.43973	2.230000	0.31524	0.310000	0.19122	0.019000	0.19563	0.010000	0.20010	0.105000	0.18517	.	.	.	272	0.89337	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1521.33	34	chr1	145686561	.	C	T	1521.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.51;DP=742;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=53.92;MQRankSum=1.04;QD=12.78;ReadPosRankSum=1.13;SOR=0.665	GT:AD:DP:GQ:PL	0/1:61,58:119:99:1535,0,1527	18	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	.	.	.	.	.	.	.	.	0.2895	1581.67	33	chr1	145872713	.	C	G	1581.67	.	AC=11;AF=0.289;AN=38;BaseQRankSum=-3.79;DP=2324;ExcessHet=8.9063;FS=153.011;InbreedingCoeff=-0.4246;MLEAC=11;MLEAF=0.289;MQ=60;MQRankSum=0;QD=1.06;ReadPosRankSum=0.037;SOR=11.864	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:131,29:160:64:0|1:145872713_C_G:64,0,4468:145872713	8	0	11	0
chr1	145872714	145872714	C	G	exonic	ANKRD35	.	nonsynonymous SNV	ANKRD35:NM_001280799:exon8:c.G1785C:p.E595D,ANKRD35:NM_144698:exon10:c.G2055C:p.E685D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.069	0.43913	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	0.57419	T	-1.48	0.36189	N	0.138	0.13626	.	.	.	.	.	.	.	0.13870499	0.26377	T	.	.	.	.	.	.	.	.	.	0.4799690801717402	0.47916	.	.	.	.	.	0.054385	0.29709	T	.	.	.	.	.	.	.	.	.	0.768923	0.39853	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	0.42763	B	.;.	.;.	3.406129	0.47225	22.4	.	.	.	.	.	.	0.196541	0.32351	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.344000	0.19703	1.359000	0.25866	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.977000	0.56843	.	.	.	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2632	1091.56	162	chr1	145872714	.	C	G	1091.56	.	AC=10;AF=0.263;AN=38;BaseQRankSum=-4.472;DP=2468;ExcessHet=6.9875;FS=132.372;InbreedingCoeff=-0.388;MLEAC=10;MLEAF=0.263;MQ=60;MQRankSum=0;QD=0.8;ReadPosRankSum=0.29;SOR=11.634	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:131,29:160:64:0|1:145872713_C_G:64,0,4468:145872713	9	0	10	0
chr1	146066551	146066551	C	T	exonic	NBPF10	.	nonsynonymous SNV	NBPF10:NM_001039703:exon86:c.G10648A:p.V3550M,NBPF10:NM_001302371:exon90:c.G11155A:p.V3719M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.000522976793673	.	.	2.474e-05	0.0002	0	0	0	0	0	6.056e-05	1.94e-05	3	154602	rs587745352	4.75e-05	5.182e-05	3.503e-05	5.92e-05	0.0004	3.292e-05	2.833e-05	0.0002	0.0001	0	0.0004	6.881e-05	0.0001	0	0	2.765e-05	3.255e-05	8.414e-05	6.837e-05	6.061e-05	9.075e-05	4.23e-05	0.0003	3.136e-05	2.222e-05	9.428e-05	5.023e-05	0.0001	0	0.0003	0	0.0002	0	0	0	0	0	.	.	.	0.09	0.40267	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	0.24135	.	.	.	.	.	.	.	0.10643801	0.19723	T	.	.	.	.	.	.	.	.	.	0.0018046389822786893	0.00167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.656934	0.26653	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.228	0.45990	B	.;.	.;.	1.267083	0.16655	12.68	.	.	.	.	.	.	0.031536	0.03394	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.394000	0.02624	-10.492000	0.00695	-1.275000	0.01275	0.001000	0.13787	0.000000	0.08366	0.029000	0.12982	.	.	.	958	0.09170	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	.	.	.	.	.	.	.	.	0.05556	157.22	2	chr1	146066551	.	C	T	157.22	.	AC=2;AF=0.056;AN=36;DP=91;ExcessHet=0;FS=0;InbreedingCoeff=0.5267;MLEAC=1;MLEAF=0.028;MQ=37.18;QD=27.43;SOR=1.609	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,4:4:12:1|1:146066541_T_G:180,12,0:146066541	17	1	0	1
chr1	146972895	146972895	G	A	exonic	NBPF12	.	nonsynonymous SNV	NBPF12:NM_001278141:exon17:c.G1736A:p.S579N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.000566841999502	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1251011437	4.396e-06	5.86e-06	6.902e-06	2.104e-06	6.57e-06	1.03e-06	6.9e-07	1.54e-06	1.04e-06	0	0	0	0	0	0	6.57e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.959	0.03663	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.121	0.11197	-0.9508	0.40833	T	0.001	0.00378	T	6	0.06256512	0.08018	T	5.67E-4	0.00233	T	.	.	.	.	0.0297737177859	0.01360	0.003761778400204054	0.00352	.	.	.	.	.	.	.	.	-0.287557	0.09883	T	-0.650832	0.08895	T	0.0340872348739338	0.02652	T	0.545245	0.19167	T	0.033796903	0.03668	0.06535449	0.13232	0.033796903	0.03668	0.06535449	0.13232	-2.832	0.08482	T	.	.	0.063	0.02313	B	.;.;.;.;.	.;.;.;.;.	-0.400792	0.02210	0.221	0.20338680044557728	0.00727	0.00007	0.00120	N	AEFI	0.018114	0.00525	N	-1.38857650796587	0.02744	0.1216203	-1.58969178076299	0.01718	0.07808138	1.60674946585295E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	0.962	-0.551	0.11230	-0.816000	0.04583	-0.202000	0.10935	-2.362000	0.00305	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4429:0.3173:0.2398:0.0	2.221	0.03729	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	.	.	.	.	.	.	.	.	0.02632	2793.33	41	chr1	146972895	.	G	A	2793.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.285;DP=1888;ExcessHet=0;FS=3.327;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=53.79;MQRankSum=1.01;QD=14.55;ReadPosRankSum=0.884;SOR=0.489	GT:AD:DP:GQ:PL	0/1:83,109:192:99:2807,0,2233	18	0	1	0
chr1	146994534	146994534	C	G	exonic	NBPF12	.	nonsynonymous SNV	NBPF12:NM_001278141:exon37:c.C4333G:p.L1445V	.	439	995	80	8	0	96	0.0460211	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	.	.	0.00878594	0.0133	0.0008	0.0125	0	0.0008	0.0115	0.0275	0.0385	0.0105367	1629	154602	rs200424287	0.0097	0.0097	0.0089	0.0105	0.0367	0.0096	0.0095	0.0320	0.0301	0.0017	0.0071	0.0172	0	0.0012	0.0367	0.0087	0.0129	0.0303	0.0070	0.0070	0.0067	0.0073	0.0296	0.0066	0.0065	0.0256	0.0241	0.0012	0	0.0057	0.0208	0	0.0007	0.0136	0.0098	0.0130	0.0296	.	.	.	0.04	0.53072	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.051	0.25867	-0.9640	0.38409	T	0.008	0.02968	T	6	0.0031640828	0.00053	T	.	.	.	.	.	.	.	.	.	1.2685876947599533E-4	0.00011	.	.	.	.	.	0.022672	0.17437	T	-0.596757	0.00153	T	-0.603517	0.12517	T	0.00373065755183608	0.00040	T	0.717528	0.33152	T	0.070765465	0.15614	0.07999147	0.18057	0.070765465	0.15614	0.07999147	0.18056	-3.886	0.22092	T	.	.	0.242	0.47600	B	.;.;.;.;.;.	.;.;.;.;.;.	0.664702	0.10331	7.061	0.74286934923283787	0.10639	0.12687	0.17419	N	AEFCI	0.077979	0.15723	N	-0.49473663388212	0.22253	1.186899	-0.71056478873505	0.16698	0.884545	1.28053174850038E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	0.429	0.429	0.15721	0.830000	0.27115	-4.642000	0.02055	-0.678000	0.04252	0.008000	0.17931	0.000000	0.08366	0.001000	0.02609	.	.	.	803	0.44167	Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	3233.33	153	chr1	146994534	.	C	G	3233.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-6.327;DP=1338;ExcessHet=0;FS=45.138;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=51.96;MQRankSum=7.06;QD=22.61;ReadPosRankSum=1.31;SOR=0.004	GT:AD:DP:GQ:PL	0/1:25,118:143:99:3247,0,491	18	0	1	0
chr1	147201163	147201163	T	C	exonic	FMO5	.	nonsynonymous SNV	FMO5:NM_001144829:exon7:c.A1172G:p.Q391R,FMO5:NM_001461:exon7:c.A1172G:p.Q391R	.	426	1084	12	0	0	12	0.00550459	.	.	.	706651	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.088	0.00313580781736	0.0045	0.000798722	0.0041	0.0003	0.0029	0	0.0002	0.0061	0.0022	0.0033	0.0038098	589	154602	rs56134376	0.0048	0.0048	0.0047	0.0048	0.0044	0.0047	0.0046	0.0043	0.0043	0.0007	0.0029	0.0452	0	0.0006	0.0031	0.0044	0.0066	0.0031	0.0039	0.0039	0.0040	0.0038	0.0045	0.0036	0.0035	0.0041	0.0039	0.0008	0.0033	0.0020	0.0539	0	0.0003	0.0034	0.0045	0.0085	0.0019	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.000790	0.41772	D	0.245662	0.979917	0.81001	D	-1.42	0.00581	N	0.81	0.48460	T	2.67	0.00196	N	0.096	0.07673	-0.9593	0.39311	T	0.015	0.06042	T	10	0.007174343	0.00163	T	0.003136	0.06815	T	0.088	0.25558	.	.	0.0806252709748	0.07271	0.6560312462568607	0.65539	0.0299026308798	0.03083	0.471916139126	0.34944	T	0.006586	0.06018	T	-0.551997	0.00284	T	-0.563347	0.16064	T	0.00822584169794112	0.00098	T	0.747125	0.38228	T	0.082621805	0.19042	0.09964729	0.23798	0.082621805	0.19041	0.09964729	0.23798	1.351	0.00173	T	.	.	0.110	0.21277	B	.;.;.	.;.;.	1.796466	0.22833	15.78	0.81496501466337468	0.13714	0.66211	0.33000	D	AEFBCI	0.552831	0.56433	D	-0.569144253129553	0.19887	1.044339	-0.287007556377793	0.28525	1.591201	0.999739167396028	0.42341	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	6.08	4.94	0.64645	2.087000	0.41277	3.344000	0.37731	0.609000	0.47794	0.965000	0.33920	1.000000	0.68203	0.983000	0.59808	0.1502:0.0783:0.0:0.7715	5.700	0.17146	771	0.49057	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004028	0.000000	0.000000	0.000000	0.000000	0.008621	0.009146	0.011364	0.02632	562.33	35	chr1	147201163	.	T	C	562.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.001;DP=685;ExcessHet=0;FS=1.086;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.52;ReadPosRankSum=1.51;SOR=0.957	GT:AD:DP:GQ:PL	0/1:42,24:66:99:576,0,1150	18	0	1	0
chr1	147619671	147619671	G	A	exonic	BCL9	.	nonsynonymous SNV	BCL9:NM_004326:exon8:c.G1516A:p.G506R	.	422	1097	3	0	0	3	0.0013655	.	.	.	4104622	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.352	0.0403847729749	7.7e-05	.	0.0001	0.0001	0	0	0	3.041e-05	0	0.0006	8.41e-05	13	154602	rs138146164	4.789e-05	4.788e-05	3.811e-05	5.776e-05	0.0005	3.86e-05	3.54e-05	0.0004	0.0004	0	0	0	0	0	0.0005	1.439e-05	9.934e-05	0.0005	2.629e-05	2.627e-05	2.57e-05	2.691e-05	5.881e-05	8.14e-06	5.14e-06	1.972e-05	1.125e-05	0	0	0	0	0	0	0	5.881e-05	0	0	0.014	0.53172	D	0.039	0.51112	D	1.0	0.90584	D	0.95	0.68788	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.735	0.44892	L	0.12	0.61089	T	-3.35	0.66436	D	0.932	0.93723	-0.5953	0.65008	T	0.298	0.66970	T	10	0.68550384	0.71537	D	0.040385	0.59348	D	0.352	0.67326	0.262	0.20631	0.460303613973	0.45655	0.6598808838569407	0.65925	0.467027789823	0.46087	0.800734460354	0.82074	T	0.455464	0.79460	T	0.0100752	0.53034	T	0.13749	0.79383	D	0.166184741230562	0.18316	T	0.929607	0.73996	D	0.3614895	0.57950	0.39029518	0.63828	0.3614895	0.57950	0.39029518	0.63828	-9.059	0.68076	D	.	.	0.764	0.75679	P	.	.	4.937178	0.81443	27.6	0.99878539405555256	0.95491	0.99528	0.97099	D	AEFDBI	0.903134	0.85185	D	0.778269155896288	0.84729	8.369847	0.782703065219387	0.88566	9.630376	0.999999999784205	0.74766	0.706548	0.73137	0	0.577304	0.33150	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.51	5.51	0.81769	7.785000	0.84334	11.818000	0.97148	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.0:1.0:0.0	19.614	0.95617	970	0.06235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2641.33	37	chr1	147619671	.	G	A	2641.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.86;DP=799;ExcessHet=0;FS=0.635;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.09;ReadPosRankSum=0.574;SOR=0.608	GT:AD:DP:GQ:PL	0/1:57,89:146:99:2655,0,1453	18	0	1	0
chr1	148123871	148123871	C	A	exonic	NBPF11	.	nonsynonymous SNV	NBPF11:NM_001385468:exon6:c.G475T:p.V159F,NBPF11:NM_001385470:exon6:c.G475T:p.V159F,NBPF11:NM_001385477:exon6:c.G250T:p.V84F,NBPF11:NM_001385480:exon6:c.G250T:p.V84F,NBPF11:NM_001101663:exon7:c.G475T:p.V159F,NBPF11:NM_001385469:exon7:c.G475T:p.V159F,NBPF11:NM_001385475:exon7:c.G475T:p.V159F,NBPF11:NM_001385479:exon7:c.G250T:p.V84F,NBPF11:NM_183372:exon7:c.G475T:p.V159F,NBPF11:NM_001385471:exon8:c.G475T:p.V159F,NBPF11:NM_001385474:exon8:c.G475T:p.V159F,NBPF11:NM_001385478:exon8:c.G250T:p.V84F,NBPF11:NM_001385472:exon9:c.G475T:p.V159F,NBPF11:NM_001385473:exon9:c.G475T:p.V159F,NBPF11:NM_001385476:exon9:c.G475T:p.V159F	.	422	1038	62	0	0	62	0.0289991	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.00142394010296	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1207133286	0.0052	0.0054	0.0047	0.0058	0.0281	0.0051	0.0051	0.0240	0.0224	0.0008	0.0030	0.0281	0	0.0004	0.0281	0.0043	0.0072	0.0159	0.0043	0.0044	0.0041	0.0044	0.0175	0.0040	0.0039	0.0144	0.0133	0.0006	0	0.0046	0.0290	0.0004	0.0002	0.0476	0.0050	0.0063	0.0175	.	.	.	0.146	0.45744	T	.	.	.	.	.	.	.	.	.	.	0.999999	0.08975	N	2.71	0.79292	M	.	.	.	.	.	.	0.153	0.15749	-0.9683	0.37551	T	0.057	0.23866	T	7	0.004335612	0.00088	T	0.001424	0.02113	T	.	.	0.117	0.02508	0.199424873507	0.19547	0.03541266956653438	0.03488	.	.	.	.	.	0.098663	0.40270	T	-0.0594101	0.42998	T	-0.323115	0.42231	T	0.0688986951738973	0.08496	T	0.561144	0.20320	T	0.13022043	0.30391	0.19046506	0.42451	0.13022043	0.30390	0.19046506	0.42450	-9.878	0.73178	D	.	.	0.181	0.47708	B	.;.;.;.	.;.;.;.	1.778462	0.22614	15.69	0.48853896195317942	0.04111	0.00265	0.01446	N	AEFI	0.043442	0.06869	N	-0.876222276605691	0.11410	0.550476	-1.00334385492625	0.09711	0.4847502	1.0986060413411E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	.	.	.	-0.060000	0.11669	-20.000000	0.00162	0.167000	0.17740	0.001000	0.13787	0.000000	0.08366	0.018000	0.11154	.	.	.	.	.	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1053	1570.43	40	chr1	148123871	.	C	A	1570.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=3.97;DP=783;ExcessHet=0.7564;FS=2.799;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=34.29;MQRankSum=2.75;QD=8.22;ReadPosRankSum=-0.486;SOR=0.94	GT:AD:DP:GQ:PL	0/1:36,20:56:99:621,0,1019	15	0	4	0
chr1	149075685	149075685	C	A	exonic	NBPF9	.	nonsynonymous SNV	NBPF9:NM_001037675:exon7:c.G958T:p.G320C,NBPF9:NM_001277444:exon7:c.G958T:p.G320C	.	409	361	749	3	0	755	0.511171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	.	.	.	5.909e-05	0	0	0	0	0	0	0.0004	3.84e-05	1	26028	rs1385733241	9.61e-06	5.749e-05	1.23e-05	6.897e-06	2.519e-05	5.58e-06	4.36e-06	4.56e-06	3.33e-06	0	0	3.836e-05	2.519e-05	0	0	9.021e-06	3.323e-05	0	1.317e-05	3.942e-05	2.575e-05	0	2.946e-05	2.19e-06	8.2e-07	4.89e-06	1.83e-06	0	0	0	0	0	0	0	2.946e-05	0	0	.	.	.	0.365	0.36765	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.21580	.	.	.	.	.	.	.	0.12383446	0.23512	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.811819	0.46320	T	.	.	.	.	.	.	.	.	-4.7	0.44930	T	.	.	0.071	0.39220	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.560151	0.09286	6.069	.	.	.	.	.	.	0.017031	0.00420	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.056000	0.11744	0.032000	0.13746	-1.437000	0.01108	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	.	.	.	889	0.27310	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2895	20288.3	149	chr1	149075685	.	C	A	20288.3	.	AC=11;AF=0.289;AN=38;BaseQRankSum=2.68;DP=7243;ExcessHet=8.9063;FS=9.436;InbreedingCoeff=-0.4084;MLEAC=11;MLEAF=0.289;MQ=47.06;MQRankSum=-6.736;QD=3.71;ReadPosRankSum=-1.169;SOR=1.49	GT:AD:DP:GQ:PL	0/1:269,204:473:99:4663,0,7240	8	0	11	0
chr1	149476006	149476006	G	A	exonic	NBPF19	.	nonsynonymous SNV	NBPF19:NM_001351365:exon1:c.G74A:p.R25H	.	440	1066	16	0	0	16	0.00744879	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1450463980	0.0016	0.0064	0.0017	0.0015	0.0019	0.0016	0.0016	0.0018	0.0018	0.0005	0.0005	0.0016	0.0009	0.0014	0.0015	0.0019	0.0015	0.0006	0.0005	0.0024	0.0004	0.0005	0.0004	0.0004	0.0003	0.0003	0.0003	0.0004	0	0.0003	0.0009	0.0002	0.0014	0	0.0004	0	0.0002	.	.	.	0.012	0.63918	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.126	0.11912	-0.9534	0.40380	T	0.005	0.01578	T	9	0.034075946	0.01603	T	5.6E-4	0.00221	T	.	.	.	.	0.0138822411134	0.00435	.	.	.	.	.	.	.	0.015807	0.13185	T	-0.346532	0.04948	T	-0.735546	0.04081	T	0.0515061975916717	0.05762	T	0.772023	0.40277	T	0.024656914	0.01319	0.043804567	0.05533	0.024656914	0.01319	0.043804567	0.05532	-6.957	0.53720	T	.	.	0.096	0.15160	B	.;.;.	.;.;.	0.628899	0.09975	6.729	0.91245755014531849	0.20504	0.00546	0.02508	N	AEFDBHCIJ	.	.	.	-1.10416153052003	0.06569	0.3027576	-1.28977332957077	0.04568	0.2157507	0.999999577828503	0.74766	0.675202	0.55065	0	0.67197	0.64623	0	0.691665	0.62940	0	0.756233	0.99697	0	.	.	1.06	-1.67	0.07798	-1.475000	0.02441	-15.955000	0.00333	-0.714000	0.03913	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.413:0.0:0.587:0.0	4.485	0.11196	.	.	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1053	594.42	33	chr1	149476006	.	G	A	594.42	.	AC=4;AF=0.105;AN=38;BaseQRankSum=4.17;DP=1693;ExcessHet=0.7564;FS=21.221;InbreedingCoeff=-0.1173;MLEAC=4;MLEAF=0.105;MQ=33.16;MQRankSum=-2.731;QD=0.8;ReadPosRankSum=-3.525;SOR=3.548	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:200,19:219:19:.:.:19,0,7930:.	15	0	4	0
chr1	149529178	149529178	A	T	exonic	NBPF19	.	nonsynonymous SNV	NBPF19:NM_001351365:exon61:c.A7351T:p.S2451C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1287266379	0.0002	0.0001	0.0002	0.0002	0.0072	0.0001	0.0001	0.0051	0.0044	0.0072	0.0006	0	0	0	0	0	0.0001	6.312e-05	0.0017	0.0011	0.0013	0.0022	0.0073	0.0012	0.0011	0.0053	0.0046	0.0073	0	0	0	0	0	0	0	0	0	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.067	0.05287	-1.0434	0.16294	T	0.031	0.13504	T	6	0.01785776	0.00384	T	4.27E-4	0.00092	T	.	.	.	.	0.0297737177859	0.01360	.	.	.	.	.	.	.	0.011315	0.10113	T	-0.332952	0.05891	T	-0.716039	0.04990	T	0.282952517271042	0.24295	T	0.935806	0.75965	D	0.1357867	0.31502	0.17433259	0.39821	0.1357867	0.31502	0.17433259	0.39821	-12.535	0.87359	D	.	.	0.362	0.57324	A	.;.	.;.	1.154655	0.15429	11.84	0.95830680580761529	0.27936	0.00143	0.00871	N	AEFI	0.046730	0.07791	N	-0.669452465565306	0.16895	0.864847	-0.981875717413994	0.10193	0.5117955	4.57484252169136E-5	0.03989	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.623	-1.25	0.08920	-0.515000	0.06375	-5.038000	0.01875	0.367000	0.20222	0.987000	0.36337	0.000000	0.08366	0.004000	0.06068	.	.	.	804	0.43891	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.03846	54.34	.	chr1	149529178	.	A	T	54.34	.	AC=1;AF=0.038;AN=26;BaseQRankSum=-0.431;DP=32;ExcessHet=0;FS=0;InbreedingCoeff=-0.1707;MLEAC=2;MLEAF=0.077;MQ=39.59;MQRankSum=-1.068;QD=7.76;ReadPosRankSum=-0.366;SOR=0.223	GT:AD:DP:GQ:PL	0/1:5,2:7:62:62,0,192	12	0	1	6
chr1	149913636	149913638	CTC	-	exonic	SV2A	.	nonframeshift deletion	SV2A:NM_001328674:exon2:c.203_205del:p.G68del,SV2A:NM_001328675:exon2:c.203_205del:p.G68del,SV2A:NM_014849:exon2:c.203_205del:p.G68del	.	.	.	.	.	.	.	.	.	.	.	718184	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0044	0.00339457	0.0008	0.0089	0.0003	0	0	1.498e-05	0	0	0.0006339	98	154602	rs1379831297	0.0002	0.0002	0.0002	0.0002	0.0071	0.0002	0.0002	0.0063	0.0061	0.0071	0.0004	0	0	0	0.0007	2.698e-06	0.0006	4.637e-05	0.0025	0.0025	0.0024	0.0026	0.0087	0.0023	0.0022	0.0079	0.0076	0.0087	0	0.0005	0	0	0	0	0	0.0033	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001511	0.000000	0.004076	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	3465.29	33	chr1	149913635	.	TCTC	T	3465.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.612;DP=837;ExcessHet=0;FS=6.009;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.95;ReadPosRankSum=0.29;SOR=0.626	GT:AD:DP:GQ:PL	0/1:102,91:193:99:3479,0,3968	18	0	1	0
chr1	150498948	150498948	G	A	exonic	TARS2	.	nonsynonymous SNV	TARS2:NM_001271896:exon8:c.G1063A:p.V355I,TARS2:NM_001271895:exon10:c.G1207A:p.V403I,TARS2:NM_025150:exon12:c.G1453A:p.V485I	.	0	225	1	0	0	1	0.00221729	.	.	.	364443	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.124	.	0.0044	0.00439297	0.0012	0.0126	0.0004	0.0001	0	8.995e-05	0	0.0002	0.0010996	170	154602	rs116552645	0.0004	0.0004	0.0004	0.0003	0.0101	0.0003	0.0003	0.0092	0.0089	0.0101	0.0006	0	2.519e-05	0	0.0007	7.824e-05	0.0010	0.0001	0.0033	0.0033	0.0030	0.0036	0.0113	0.0031	0.0030	0.0105	0.0101	0.0113	0	0.0013	0	0	0	0	5.879e-05	0.0033	0.0004	0.339	0.12754	T	0.334	0.18340	T	0.592	0.39119	P	0.063	0.27082	B	0.000716	0.42254	N	0.153528	0.98619	0.81001	D	1.18	0.29980	L	-0.29	0.67712	T	-0.61	0.18670	N	0.19	0.23632	-1.0729	0.08787	T	0.077	0.30798	T	10	0.009222984	0.00208	T	.	.	.	0.124	0.34239	.	.	0.59394422163	0.59072	0.3050416473263963	0.30417	0.386120617824	0.39908	0.313498705626	0.12435	T	0.180346	0.54369	T	-0.521254	0.00433	T	-0.511134	0.21199	T	0.0175404571325306	0.00488	T	0.762524	0.38803	T	0.013592848	0.00064	0.026527768	0.00746	0.015530105	0.00143	0.029044142	0.01200	-7.005	0.54070	T	0.16305408521268394	0.20067	0.094	0.14933	B	.;.;.;.	.;.;.;.	1.612397	0.20604	14.83	0.95470993359064393	0.27018	0.93788	0.59193	D	AEFGBI	0.292929	0.40368	N	-0.466718648578971	0.23177	1.242791	-0.490649944850288	0.22410	1.217063	0.0431790600171616	0.14558	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.81	1.93	0.24985	4.009000	0.56822	2.077000	0.30474	-0.181000	0.10308	1.000000	0.71638	0.983000	0.30585	0.717000	0.34675	0.2437:0.1389:0.6174:0.0	5.958	0.18522	157	0.93883	Aminoacyl-tRNA synthetase, class II (G/ P/ S/T)|Aminoacyl-tRNA synthetase, class II|Threonine-tRNA ligase catalytic core domain;.;Aminoacyl-tRNA synthetase, class II (G/ P/ S/T)|Aminoacyl-tRNA synthetase, class II|Threonine-tRNA ligase catalytic core domain;Aminoacyl-tRNA synthetase, class II (G/ P/ S/T)|Aminoacyl-tRNA synthetase, class II|Threonine-tRNA ligase catalytic core domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1873.33	34	chr1	150498948	.	G	A	1873.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.482;DP=800;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.42;ReadPosRankSum=0.655;SOR=0.649	GT:AD:DP:GQ:PL	0/1:86,78:164:99:1887,0,2075	18	0	1	0
chr1	150558055	150558055	C	T	exonic	ADAMTSL4	.	nonsynonymous SNV	ADAMTSL4:NM_001378596:exon14:c.C2288T:p.P763L,ADAMTSL4:NM_019032:exon14:c.C2288T:p.P763L,ADAMTSL4:NM_025008:exon14:c.C2288T:p.P763L,ADAMTSL4:NM_001288607:exon15:c.C2171T:p.P724L,ADAMTSL4:NM_001288608:exon15:c.C2357T:p.P786L	Ectopia lentis et pupillae, Autosomal recessive;Ectopia lentis, isolated, autosomal recessive, Autosomal recessive	0	1510	11	0	1	12	0.00362917	.	.	.	276366	not_provided|Ectopia_lentis_2,_isolated,_autosomal_recessive	MedGen:C3661900|MONDO:MONDO:0009152,MedGen:C3541474,OMIM:225100,Orphanet:1885	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.164	.	0.0038	0.00399361	0.0013	0.0121	0.0008	0.0007	0	0.0004	0	0.0002	0.0011772	182	154602	rs56055939	0.0007	0.0007	0.0008	0.0007	0.0099	0.0007	0.0007	0.0090	0.0087	0.0099	0.0007	0.0001	0.0002	1.91e-05	0.0005	0.0005	0.0013	0.0006	0.0034	0.0034	0.0031	0.0036	0.0109	0.0031	0.0030	0.0100	0.0097	0.0109	0	0.0013	0	0.0004	0	0	0.0004	0.0033	0.0008	0.137	0.29288	T	0.268	0.24913	T	0.261	0.31520	B	0.098	0.30479	B	.	.	.	.	0.999278	0.46519	D	2.085	0.57729	M	0.15	0.60734	T	-4.14	0.75220	D	0.223	0.25989	-0.9367	0.43134	T	0.102	0.37618	T	9	0.006267786	0.00141	T	.	.	.	0.164	0.42212	.	.	0.566480848757	0.56312	0.23921984831315707	0.23835	0.197794194553	0.22146	0.365869522095	0.20238	T	0.038841	0.24981	T	-0.533268	0.00367	T	-0.529384	0.19348	T	0.0334869018408492	0.02551	T	0.814619	0.46840	T	0.09921295	0.23412	0.1470421	0.34814	0.09921295	0.23412	0.1470421	0.34813	-6.264	0.48437	T	0.3520516181705658	0.44918	0.061	0.01859	B	.;.;.;.	.;.;.;.	1.016440	0.13959	10.52	0.7459366691130529	0.10753	0.23550	0.22112	N	AEFDBCI	0.074402	0.14912	N	-0.932438323723357	0.10090	0.4805304	-1.01920658279463	0.09363	0.4653946	0.999990288726087	0.74766	0.660377	0.49826	0	0.514364	0.08380	0	0.696353	0.63694	0	0.664235	0.64389	0	.	.	5.82	-1.6	0.07977	0.462000	0.21667	-0.890000	0.07031	-0.313000	0.06017	0.003000	0.16062	0.000000	0.08366	0.024000	0.12247	0.0:0.5087:0.0:0.4913	11.431	0.49282	114	0.95383	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1270.33	35	chr1	150558055	.	C	T	1270.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.81;DP=713;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.68;ReadPosRankSum=0.825;SOR=0.76	GT:AD:DP:GQ:PL	0/1:35,46:81:99:1284,0,749	18	0	1	0
chr1	151024644	151024644	G	C	exonic	PRUNE1	.	nonsynonymous SNV	PRUNE1:NM_001303242:exon4:c.G369C:p.E123D,PRUNE1:NM_021222:exon4:c.G369C:p.E123D	.	.	.	.	.	.	.	.	.	.	.	2023929	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.243	0.0492538015413	.	.	8.243e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs762922023	6.847e-07	6.841e-07	1.363e-06	0	2.519e-05	0	0	.	.	0	0	0	2.519e-05	0	0	0	0	0	2.629e-05	2.627e-05	3.854e-05	1.345e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0.0008	0	0	0	0	0	0.133	0.26409	T	0.159	0.31527	T	0.997	0.70673	D	0.934	0.66904	D	0.000005	0.62929	D	0.061924	0.999694	0.81001	D	.	.	.	2.54	0.13916	T	-1.86	0.43524	N	0.432	0.47115	-1.0346	0.18983	T	0.057	0.23866	T	10	0.31114167	0.48586	T	0.049254	0.63732	D	0.243	0.54921	0.613	0.74652	0.46512379133	0.46136	0.54455422651914	0.54381	0.582502634444	0.54005	0.522631585598	0.41997	T	0.338585	0.70783	T	-0.130855	0.31359	T	-0.200039	0.54642	T	0.757689682975081	0.43720	D	0.818818	0.47619	T	0.24833967	0.47820	0.1842602	0.41467	0.24833967	0.47820	0.1842602	0.41466	-8.0	0.61071	D	0.3584302233818627	0.45508	0.431	0.61265	A	.;.	.;.	3.343336	0.46082	22.2	0.99673933885465638	0.78782	0.69717	0.34299	D	ALL	0.552636	0.56422	D	0.565104601960001	0.71006	5.585838	0.530325528024756	0.70041	5.447149	0.99999999999998	0.74766	0.77792	0.99625	0	0.637152	0.57089	0	0.854111	0.99894	0	0.629945	0.49285	0	.	.	5.76	4.85	0.62375	3.049000	0.49560	6.435000	0.55641	0.649000	0.52879	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0811:0.0:0.9189:0.0	12.399	0.54736	118	0.95237	.;DDH domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1323.33	36	chr1	151024644	.	G	C	1323.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.089;DP=768;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.72;ReadPosRankSum=2.33;SOR=0.753	GT:AD:DP:GQ:PL	0/1:49,55:104:99:1337,0,1269	18	0	1	0
chr1	151811329	151811329	G	C	exonic	RORC	.	nonsynonymous SNV	RORC:NM_001001523:exon9:c.C1328G:p.A443G,RORC:NM_005060:exon10:c.C1391G:p.A464G	Immunodeficiency 42, Autosomal recessive	426	1093	3	0	0	3	0.00137049	.	.	.	696095	not_provided|RORC-related_disorder|Autosomal_recessive_mendelian_susceptibility_to_mycobacterial_diseases_due_to_complete_RORgamma_receptor_deficiency|not_specified	MedGen:C3661900|.|MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622,Orphanet:477857|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.538	.	0.0042	0.00419329	0.0019	0.0119	0.0032	0	0	0.0010	0.0022	0	0.0018628	288	154602	rs113195254	0.0010	0.0010	0.0010	0.0009	0.0130	0.0009	0.0009	0.0120	0.0116	0.0130	0.0035	0.0080	2.521e-05	0	0.0040	0.0004	0.0022	5.806e-05	0.0047	0.0047	0.0048	0.0045	0.0132	0.0044	0.0043	0.0123	0.0120	0.0132	0	0.0044	0.0089	0	0	0.0068	0.0007	0.0047	0	0.005	0.63226	D	0.065	0.45110	T	0.349	0.33622	B	0.378	0.43788	B	0.207358	0.16450	U	0.560202	0.637315	0.30646	N	1.645	0.42016	L	-3.63	0.95111	D	-2.18	0.49187	N	0.565	0.59816	0.417	0.89351	D	0.732	0.90830	D	10	0.010866195	0.00240	T	.	.	.	0.538	0.80664	.	.	0.601883268742	0.59870	0.1283561491373287	0.12760	0.596854558386	0.54905	0.457960993052	0.33030	T	0.565888	0.85546	D	-0.176798	0.24213	T	-0.0150583	0.69354	D	0.0272615386736068	0.01582	T	0.90231	0.65919	D	0.5866228	0.71968	0.44390666	0.67590	0.650513	0.75393	0.40550008	0.64949	-2.857	0.08818	T	.	.	0.088	0.14614	B	.;.	.;.	4.500275	0.70384	25.5	0.99755664678440503	0.84615	0.95035	0.63201	D	AEFDGBIJ	0.725169	0.67424	D	0.193142774083986	0.50868	3.272972	0.279340768023313	0.54333	3.598769	0.999999920535032	0.74766	0.559995	0.30671	0	0.59043	0.45803	0	0.527494	0.11647	0	0.530356	0.10902	0	.	.	4.72	4.72	0.59248	4.666000	0.61248	8.620000	0.77807	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.858000	0.40661	0.0:0.1707:0.8293:0.0	12.322	0.54312	572	0.70300	.;Nuclear hormone receptor, ligand-binding domain|Nuclear hormone receptor, ligand-binding domain|Nuclear hormone receptor, ligand-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.014099	0.020202	0.027174	0.005848	0.050000	0.017241	0.000000	0.000000	0.02632	1112.33	34	chr1	151811329	.	G	C	1112.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.677;DP=751;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.71;ReadPosRankSum=-0.082;SOR=0.656	GT:AD:DP:GQ:PL	0/1:48,47:95:99:1126,0,1098	18	0	1	0
chr1	151838010	151838010	G	A	exonic	C2CD4D	.	nonsynonymous SNV	C2CD4D:NM_001136003:exon2:c.C980T:p.T327M	.	410	1111	1	0	0	1	0.000449843	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	.	0.0083	0.00938498	0.0043	0.0399	0	0	0	0.0003	0	0	0.0010479	162	154602	rs188475396	0.0009	0.0009	0.0011	0.0008	0.0311	0.0009	0.0009	0.0295	0.0289	0.0311	0.0029	0	2.799e-05	0	0.0023	6.303e-05	0.0021	7.575e-05	0.0094	0.0094	0.0100	0.0088	0.0329	0.0090	0.0088	0.0315	0.0309	0.0329	0	0.0027	0	0	0	0	0.0001	0.0071	0	0.098	0.30800	T	0.126	0.35205	T	0.066	0.23586	B	0.004	0.10090	B	.	.	.	.	0.988275	0.24428	N	0.755	0.19153	N	1.07	0.39586	T	1.41	0.00825	N	0.117	0.10626	-0.9902	0.32551	T	0.018	0.07470	T	9	0.002556473	0.00039	T	.	.	.	0.017	0.02790	.	.	0.144782658237	0.14088	0.45615947111295546	0.45533	.	.	0.513804316521	0.40755	T	0.019997	0.15827	T	-0.588137	0.00172	T	-0.591135	0.13567	T	0.00834957547137285	0.00101	T	0.647135	0.25820	T	0.028158415	0.02112	0.07989786	0.18026	0.028158415	0.02112	0.07989786	0.18026	-6.375	0.49314	T	.	.	0.090	0.12512	B	.	.	2.451482	0.31569	18.78	0.99726292997221944	0.82406	0.35691	0.25360	N	AEFDBI	0.158454	0.28411	N	-0.530983385979491	0.21084	1.116332	-0.402639135783303	0.24920	1.367363	0.999715027219963	0.42101	0.59774	0.34471	0	0.596491	0.49125	0	0.503968	0.08637	0	0.554799	0.18163	0	.	.	3.44	1.53	0.22224	2.516000	0.45181	1.438000	0.26503	0.656000	0.54149	0.628000	0.27982	0.007000	0.19602	0.969000	0.54022	0.377:0.0:0.623:0.0	5.475	0.15986	580	0.69689	C2 domain|C2 domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004144	0.007463	0.008065	0.008929	0.000000	0.000000	0.000000	0.000000	0.02632	968.33	37	chr1	151838010	.	G	A	968.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.113;DP=837;ExcessHet=0;FS=1.764;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.53;ReadPosRankSum=2.61;SOR=0.472	GT:AD:DP:GQ:PL	0/1:51,41:92:99:982,0,1190	18	0	1	0
chr1	151888325	151888325	T	C	exonic	THEM4	.	nonsynonymous SNV	THEM4:NM_053055:exon4:c.A505G:p.M169V	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	.	0.0028	0.00559105	0.0014	0.0106	0.0021	0.0031	0	0.0001	0.0022	6.074e-05	0.0014359	222	154602	rs141883111	0.0005	0.0005	0.0005	0.0004	0.0096	0.0004	0.0004	0.0087	0.0084	0.0096	0.0016	3.828e-05	0.0017	1.873e-05	0.0016	0.0001	0.0010	6.96e-05	0.0032	0.0032	0.0034	0.0031	0.0105	0.0030	0.0029	0.0097	0.0094	0.0105	0	0.0012	0	0.0027	0	0	0.0002	0.0052	0	0.43	0.09543	T	0.567	0.08900	T	0.0	0.02946	B	0.001	0.04355	B	0.025370	0.01629	N	2.126250	1	0.08975	N	0.01	0.07948	N	1.99	0.21666	T	0.07	0.06138	N	0.139	0.13769	-0.9455	0.41731	T	0.004	0.01400	T	10	0.004502982	0.00093	T	.	.	.	0.019	0.03383	.	.	0.0138822411134	0.00435	0.1994266677679822	0.19859	0.0771562087406	0.08669	0.251389354467	0.03915	T	0.205802	0.56497	T	-0.764243	0.00014	T	-0.862597	0.00816	T	0.00207671388048226	0.00021	T	0.20008	0.02257	T	0.088962294	0.20772	0.056345295	0.10049	0.088962294	0.20771	0.056345295	0.10048	-3.981	0.23518	T	.	.	0.076	0.05979	B	.	.	-2.770631	0.00017	0.001	0.10473346751954331	0.00133	0.00348	0.01797	N	AEFBI	0.028815	0.02608	N	-2.97438921741673	0.00001	5.546149e-05	-3.08415386824934	0.00001	4.622676e-05	1.0	0.98316	0.638212	0.43195	0	0.653731	0.59785	0	0.653264	0.51672	0	0.635551	0.53088	0	.	.	4.99	-9.97	0.00363	-4.807000	0.00213	-20.000000	0.00162	-1.822000	0.00600	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1005:0.2079:0.1918:0.4998	2.226	0.03741	578	0.69858	Thioesterase 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	0.001514	0.005051	0.002717	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	650.33	36	chr1	151888325	.	T	C	650.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.29;DP=690;ExcessHet=0;FS=2.131;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.01;ReadPosRankSum=-0.122;SOR=0.459	GT:AD:DP:GQ:PL	0/1:41,24:65:99:664,0,996	18	0	1	0
chr1	152109156	152109156	C	G	exonic	TCHH	.	nonsynonymous SNV	TCHH:NM_007113:exon3:c.G4061C:p.R1354P	.	413	1108	1	0	0	1	0.00045106	.	.	.	2809264	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.043	.	0.0035	0.000599042	0.0048	0.0008	0.0010	0	0.0107	0.0067	0.0033	0.0024	0.0043272	669	154602	rs2496251	0.0056	0.0056	0.0056	0.0055	0.0062	0.0055	0.0054	0.0060	0.0060	0.0005	0.0014	0.0026	0	0.0121	0.0031	0.0062	0.0045	0.0022	0.0049	0.0049	0.0049	0.0049	0.0077	0.0046	0.0045	0.0072	0.0070	0.0011	0	0.0016	0.0038	0.0002	0.0113	0	0.0077	0.0033	0.0021	0.027	0.46513	D	0.181	0.29346	T	0.929	0.51690	P	0.519	0.48163	P	.	.	.	.	1	0.08975	N	2.585	0.75554	M	3.22	0.07024	T	-0.8	0.22078	N	0.124	0.11769	-0.9562	0.39879	T	0.010	0.03582	T	9	0.0045363605	0.00094	T	.	.	.	0.043	0.11576	.	.	0.462982567029	0.45924	0.07006754664862183	0.06943	0.380035322412	0.39378	0.269661903381	0.06097	T	0.001217	0.00709	T	-0.545594	0.00310	T	-0.547089	0.17605	T	0.011077652677947	0.00161	T	0.39586	0.09952	T	0.2541611	0.48443	0.19619653	0.43337	0.20387281	0.42479	0.19896287	0.43754	-7.863	0.60133	D	.	.	0.570	0.68433	P	.;.	.;.	1.562227	0.20012	14.55	0.73799993429520006	0.10460	0.12237	0.17145	N	AEFDBCI	0.192898	0.32004	N	-0.54310570413136	0.20699	1.093177	-0.719353370450807	0.16479	0.8719418	0.999994856197454	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.616487	0.41570	0	0.63947	0.58350	0	.	.	3.58	1.51	0.22094	-1.402000	0.02606	.	.	-0.247000	0.07223	0.000000	0.06391	.	.	0.031000	0.13245	0.1994:0.685:0.0:0.1157	5.718	0.17242	478	0.77585	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.001511	0.000000	0.001359	0.002924	0.000000	0.000000	0.003049	0.000000	0.02632	3398.33	44	chr1	152109156	.	C	G	3398.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.24;DP=2957;ExcessHet=0;FS=3.653;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.93;MQRankSum=0;QD=14.4;ReadPosRankSum=-0.397;SOR=0.929	GT:AD:DP:GQ:PL	0/1:113,123:236:99:3412,0,2687	18	0	1	0
chr1	152214827	152214827	A	0	exonic	HRNR	.	.	.	.	441	898	8	0	175	183	0.00443459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	1290.07	114	chr1	152214827	.	A	*	1290.07	.	AC=10;AF=0.263;AN=38;BaseQRankSum=-2.362;DP=5607;ExcessHet=13.8672;FS=40.595;InbreedingCoeff=-0.5202;MLEAC=10;MLEAF=0.263;MQ=28.03;MQRankSum=2.54;QD=0.28;ReadPosRankSum=-5.241;SOR=10.182	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:452,86:538:99:0|1:152214821_T_A:2114,0,18534:152214821	9	0	10	0
chr1	152214830	152214830	C	0	exonic	HRNR	.	.	.	.	441	924	156	0	1	157	0.0778443	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	637.96	114	chr1	152214830	.	C	*	637.96	.	AC=10;AF=0.263;AN=38;BaseQRankSum=0;DP=5543;ExcessHet=11.1788;FS=40.595;InbreedingCoeff=-0.4637;MLEAC=10;MLEAF=0.263;MQ=27.92;MQRankSum=1.43;QD=0.15;ReadPosRankSum=-5.927;SOR=10.041	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:452,86:538:99:0|1:152214821_T_A:2114,0,18534:152214821	9	0	10	0
chr1	152219026	152219026	C	G	exonic	HRNR	.	nonsynonymous SNV	HRNR:NM_001009931:exon3:c.G2603C:p.G868A	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	.	0.0032	0.00399361	0.0009	0.0093	0.0013	0	0	2.997e-05	0	0	0.000925	143	154602	rs141313202	0.0004	0.0004	0.0004	0.0003	0.0102	0.0003	0.0003	0.0093	0.0089	0.0102	0.0014	0	0	0	0.0009	5.935e-05	0.0010	6.957e-05	0.0029	0.0029	0.0030	0.0027	0.0098	0.0027	0.0026	0.0090	0.0087	0.0098	0	0.0013	0	0	0	0	0.0001	0.0028	0	0.023	0.48186	D	0.066	0.44501	T	0.759	0.43487	P	0.312	0.41466	B	.	.	.	.	1	0.08975	N	0.975	0.24501	L	2.23	0.18083	T	-2.47	0.53898	N	0.127	0.12055	-1.0209	0.23421	T	0.017	0.06950	T	9	0.0054015517	0.00119	T	.	.	.	0.022	0.04323	.	.	0.445910236696	0.44209	0.0029774215902774073	0.00277	.	.	0.516959667206	0.41198	T	0.031342	0.21997	T	-0.609626	0.00127	T	-0.640643	0.09622	T	0.0404659285131421	0.03774	T	0.365463	0.08501	T	0.10876294	0.25715	0.072105266	0.15518	0.10876294	0.25714	0.072105266	0.15518	-8.473	0.64250	D	.	.	0.154	0.34049	B	.	.	0.739666	0.11089	7.739	0.5682564493180815	0.05636	0.02945	0.07771	N	AEFDBI	0.032395	0.03651	N	-0.632829567486811	0.17964	0.9288783	-0.850992648184749	0.13264	0.6871083	8.30543076000612E-5	0.04703	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.01	-0.332	0.12046	0.042000	0.13834	.	.	0.489000	0.22316	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.6052:0.1719:0.2229	5.041	0.13799	570	0.70478	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.005051	0.004076	0.002924	0.000000	0.008621	0.000000	0.000000	0.02632	3873.33	408	chr1	152219026	.	C	G	3873.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.413;DP=4493;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.56;ReadPosRankSum=0.998;SOR=0.678	GT:AD:DP:GQ:PL	0/1:110,139:249:99:3887,0,2951	18	0	1	0
chr1	152219783	152219783	T	C	exonic	HRNR	.	nonsynonymous SNV	HRNR:NM_001009931:exon3:c.A1846G:p.T616A	.	420	854	248	0	0	248	0.126789	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.00149476757281	.	0.000199681	1.647e-05	0	0	0.0001	0	1.498e-05	0	0	7.68e-05	2	26028	rs76694305	6.24e-06	0.0020	6.892e-06	5.579e-06	6.362e-06	2.94e-06	2.13e-06	2.65e-06	1.7e-06	0	0	0	0	0	0	6.362e-06	3.368e-05	0	0.0003	0.0047	0.0003	0.0002	0.0004	0.0002	0.0002	0.0001	0.0001	7.735e-05	0	0.0004	0.0003	0.0002	0.0010	0	0.0002	0.0005	0.0002	0.216	0.19225	T	0.964	0.02522	T	0.16	0.28337	B	0.045	0.24526	B	.	.	.	.	1	0.08975	N	-0.205	0.04094	N	3.85	0.03650	T	-0.15	0.09297	N	0.069	0.04188	-0.9114	0.46682	T	0.001	0.00438	T	9	0.026376784	0.00806	T	0.001495	0.02292	T	0.006	0.00375	.	.	0.159798565429	0.15598	0.04495321470064539	0.04439	.	.	0.464960455894	0.33990	T	0.014021	0.12018	T	-0.440938	0.01277	T	-0.871154	0.00731	T	0.00228779240499744	0.00024	T	0.134287	0.01062	T	0.029704548	0.02508	0.040587634	0.04419	0.029704548	0.02508	0.040587634	0.04419	-5.418	0.41092	T	.	.	0.094	0.14385	B	.	.	-0.757427	0.01194	0.058	0.35753390048393252	0.02262	0.00077	0.00530	N	AEFBI	0.019714	0.00710	N	-1.8260051593638	0.00485	0.02085899	-1.92679296248285	0.00433	0.01915755	0.0320252303258179	0.14034	0.553676	0.25195	0	0.588066	0.40923	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	3.75	-7.45	0.01229	-3.458000	0.00516	.	.	-0.133000	0.13014	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1213:0.532:0.0:0.3467	8.348	0.31445	570	0.70478	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1944	5052.02	615	chr1	152219783	.	T	C	5052.02	.	AC=7;AF=0.194;AN=36;BaseQRankSum=7.93;DP=8689;ExcessHet=2.9153;FS=29.204;InbreedingCoeff=-0.2459;MLEAC=7;MLEAF=0.194;MQ=51.63;MQRankSum=-10.48;QD=1.56;ReadPosRankSum=-7.619;SOR=3.236	GT:AD:DP:GQ:PL	0/1:407,72:479:99:1064,0,11407	11	0	7	1
chr1	153032507	153032507	C	0	exonic	SPRR1B	.	.	.	.	506	390	437	182	7	808	0.506641	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	26379.6	227	chr1	153032507	.	C	*	26379.6	.	AC=4;AF=0.105;AN=38;BaseQRankSum=1.7;DP=2119;ExcessHet=1.9883;FS=0;InbreedingCoeff=-0.0556;MLEAC=4;MLEAF=0.105;MQ=59.58;MQRankSum=0;QD=14.45;ReadPosRankSum=0.487;SOR=0.722	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,78:78:99:.:.:3376,250,0:.	16	1	2	0
chr1	153760378	153760378	C	G	exonic	INTS3	.	nonsynonymous SNV	INTS3:NM_023015:exon12:c.C1305G:p.D435E,INTS3:NM_001324475:exon13:c.C1305G:p.D435E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.557	0.0101042060593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.109e-06	3.763e-05	5.452e-06	2.753e-06	5.404e-06	1.48e-06	9.7e-07	1.94e-06	1.28e-06	0	0	0	0	0	0	5.404e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.096	0.39340	T	0.99	0.63424	D	0.971	0.76916	D	0.000000	0.84330	D	0.000000	0.999453	0.47118	D	.	.	.	.	.	.	-3.57	0.68999	D	0.889	0.88798	-0.8647	0.50922	T	0.172	0.51484	T	9	0.8319566	0.82357	D	0.010104	0.26235	T	0.557	0.81774	.	.	0.721551216883	0.71909	0.6563577712550202	0.65571	2.15008403777	0.95306	0.843462109566	0.88622	D	.	.	.	0.223	0.76021	D	0.0819729	0.75709	D	0.98498809337616	0.76116	D	.	.	.	.	.	.	.	.	.	.	.	-3.456	0.16153	T	.	.	0.998	0.97160	P	.;.;.	.;.;.	3.646224	0.51727	23.1	0.99633933635678729	0.76203	0.93226	0.57654	D	AEFBI	0.403545	0.47719	N	0.0683850253580956	0.44993	2.763348	0.0345004263229141	0.41329	2.481153	0.733851878871199	0.23096	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.13	2.28	0.27583	0.899000	0.28049	2.750000	0.34528	-0.171000	0.11205	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.7504:0.0:0.2496	8.751	0.33774	123	0.95099	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2941	2195.52	180	chr1	153760378	.	C	G	2195.52	.	AC=10;AF=0.294;AN=34;BaseQRankSum=-3.183;DP=2532;ExcessHet=6.9875;FS=288.096;InbreedingCoeff=-0.4251;MLEAC=11;MLEAF=0.324;MQ=60;MQRankSum=0;QD=1.51;ReadPosRankSum=0.865;SOR=12.942	GT:AD:DP:GQ:PL	0/1:85,43:133:99:290,0,1466	7	0	10	2
chr1	154869476	154869476	G	T	exonic	KCNN3	.	nonsynonymous SNV	KCNN3:NM_001204087:exon1:c.C489A:p.H163Q,KCNN3:NM_002249:exon1:c.C489A:p.H163Q	.	416	1104	2	0	0	2	0.000904977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.0496590137718	.	.	4.141e-05	0	0	0	0	4.521e-05	0.0011	6.06e-05	3.23e-05	5	154602	rs750750797	2.189e-05	2.189e-05	1.361e-05	3.025e-05	0.0002	1.584e-05	1.356e-05	8.886e-05	7.054e-05	0	0	0	0	0.0001	0	9.892e-06	1.656e-05	0.0002	3.283e-05	3.281e-05	2.57e-05	4.027e-05	1.47e-05	1.26e-05	7.97e-06	.	.	0	0	0	0	0	0.0003	0	1.47e-05	0.0005	0	0.003	0.68238	D	0.439	0.13365	T	.	.	.	.	.	.	0.314786	0.14371	N	0.624103	0.982418	0.39889	D	.	.	.	-3.64	0.95145	D	-0.98	0.25986	N	0.141	0.20395	-0.3737	0.72848	T	0.487	0.80466	T	10	0.12567064	0.23883	T	0.049659	0.63906	D	0.187	0.46274	.	.	0.498981075579	0.49534	0.5963580764211439	0.59565	1.92661065123	0.93051	0.61751884222	0.55378	T	0.250696	0.62084	T	-0.0450244	0.45201	T	-0.120923	0.61727	T	0.144966250541967	0.16695	T	0.851115	0.53499	D	0.18693158	0.40124	0.19365013	0.42945	0.18693158	0.40124	0.19365013	0.42944	-3.398	0.15030	T	.	.	0.212	0.43989	B	.;.	.;.	3.146510	0.42582	21.6	0.99102444819024627	0.52496	0.92564	0.56008	D	ALL	0.771885	0.70638	D	-0.138636565023946	0.35721	2.055308	0.0831731811163268	0.43703	2.66659	0.999999999745767	0.74766	0.652421	0.48094	0	0.405561	0.06353	1	0.64067	0.45733	0	0.055017	0.00153	3	.	.	5.02	5.02	0.66742	3.245000	0.51106	7.563000	0.60525	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.1804:0.8196:0.0	11.537	0.49898	354	0.85282	.;.	.	.	.	.	.	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	0.001009	0.000000	0.000000	0.002924	0.000000	0.000000	0.003067	0.000000	0.02632	1334.33	37	chr1	154869476	.	G	T	1334.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.622;DP=852;ExcessHet=0;FS=0.736;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.71;ReadPosRankSum=-0.812;SOR=0.568	GT:AD:DP:GQ:PL	0/1:50,55:105:99:1348,0,1376	18	0	1	0
chr1	155015253	155015253	C	T	exonic	ZBTB7B	.	nonsynonymous SNV	ZBTB7B:NM_001256455:exon2:c.C593T:p.A198V,ZBTB7B:NM_001377453:exon3:c.C593T:p.A198V,ZBTB7B:NM_001377455:exon3:c.C593T:p.A198V,ZBTB7B:NM_001252406:exon4:c.C695T:p.A232V,ZBTB7B:NM_001377452:exon4:c.C593T:p.A198V,ZBTB7B:NM_001377454:exon4:c.C593T:p.A198V,ZBTB7B:NM_001377451:exon5:c.C695T:p.A232V	.	418	1091	13	0	0	13	0.00592255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.0163303372047	7.7e-05	0.000199681	0.0005	0.0001	0.0018	0	0	0.0002	0.0023	0.0013	0.0003946	61	154602	rs148039526	0.0002	0.0002	0.0001	0.0002	0.0016	0.0002	0.0002	0.0014	0.0013	5.974e-05	0.0013	3.829e-05	0	0	0.0009	5.036e-05	0.0003	0.0016	0.0002	0.0002	0.0001	0.0002	0.0029	0.0001	9.697e-05	0.0018	0.0014	2.406e-05	0	0.0001	0	0	0	0.0034	8.822e-05	0.0005	0.0029	0.242	0.24564	T	0.278	0.26145	T	0.067	0.23653	B	0.023	0.19966	B	0.598830	0.05634	N	1.250020	0.657605	0.30478	N	0.55	0.14455	N	2.94	0.09915	T	-0.75	0.21429	N	0.181	0.25253	-0.9676	0.37693	T	0.007	0.02478	T	10	0.010650545	0.00236	T	0.01633	0.37534	T	0.057	0.16321	.	.	0.182106788282	0.17826	0.2241321514737775	0.22328	0.642444202112	0.57808	0.823675751686	0.85592	D	0.120	0.44141	T	-0.58315	0.00184	T	-0.635059	0.10034	T	0.0176638318141449	0.00498	T	0.754725	0.41328	T	0.045267023	0.07378	0.05614892	0.09982	0.045267023	0.07378	0.05614892	0.09981	-4.277	0.29907	T	.	.	0.232	0.46470	B	.;.;.;.	.;.;.;.	2.713355	0.35474	19.91	0.98851777573027755	0.47305	0.40377	0.26423	N	AEFGBCI	0.309836	0.41602	N	-0.614600182950933	0.18505	0.961278	-0.50089307615298	0.22130	1.200457	0.999977840997946	0.50053	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	4.09	3.17	0.35510	1.684000	0.37266	4.569000	0.43873	0.596000	0.33519	0.042000	0.21073	1.000000	0.68203	0.995000	0.73285	0.0:0.8924:0.0:0.1076	9.398	0.37578	328	0.86572	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	953.33	51	chr1	155015253	.	C	T	953.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.536;DP=825;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.44;ReadPosRankSum=-2.306;SOR=0.649	GT:AD:DP:GQ:PL	0/1:57,44:101:99:967,0,1537	18	0	1	0
chr1	161048864	161048864	C	G	exonic	ARHGAP30	.	nonsynonymous SNV	ARHGAP30:NM_001287602:exon8:c.G1626C:p.K542N,ARHGAP30:NM_001287600:exon11:c.G1713C:p.K571N,ARHGAP30:NM_001025598:exon12:c.G2157C:p.K719N	.	371	1150	1	0	0	1	0.000434594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00594878585391	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.237e-05	0.0009	1.505e-05	9.664e-06	2.999e-05	7.73e-06	6.38e-06	9.36e-06	7.65e-06	2.999e-05	0	0	0	0	0	1.537e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.563	0.06691	T	0.539	0.12037	T	0.0	0.02946	B	0.001	0.04355	B	0.167583	0.17472	N	0.469196	1	0.19238	N	0.55	0.14455	N	3.07	0.30133	T	0.59	0.02558	N	0.032	0.00825	-0.9399	0.42632	T	0.010	0.03673	T	10	0.032844096	0.01445	T	0.005949	0.15520	T	0.026	0.05648	0.085	0.00830	0.082315109003	0.07666	0.020223521516263606	0.01975	0.0321919343221	0.03346	0.227677255869	0.01800	T	0.007284	0.06695	T	-0.397532	0.02403	T	-0.808803	0.01692	T	0.0349868424236774	0.02805	T	0.608539	0.22995	T	0.041750744	0.06205	0.033273403	0.02195	0.041750744	0.06205	0.033273403	0.02195	-4.588	0.32020	T	.	.	0.104	0.29560	B	.;.	.;.	0.272084	0.06499	2.975	0.87093396735068451	0.16984	0.17351	0.19799	N	AEFDBCI	0.077101	0.15528	N	-1.02014869570935	0.08186	0.382952	-0.959379613406779	0.10706	0.5409345	0.999970802198825	0.50053	0.67177	0.52595	0	0.702456	0.74545	0	0.590023	0.30420	0	0.567892	0.33627	0	.	.	4.64	2.21	0.27042	0.214000	0.17331	0.493000	0.18920	0.587000	0.30956	0.000000	0.06391	0.004000	0.18990	0.038000	0.14061	0.2667:0.4814:0.1544:0.0974	2.806	0.05095	531	0.73574	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3158	3525.44	257	chr1	161048864	.	C	G	3525.44	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-5.652;DP=3787;ExcessHet=11.1788;FS=204.532;InbreedingCoeff=-0.4729;MLEAC=12;MLEAF=0.316;MQ=60;MQRankSum=0;QD=1.42;ReadPosRankSum=2.07;SOR=13.483	GT:AD:DP:GQ:PL	0/1:157,47:210:99:245,0,3319	7	0	12	0
chr1	161675268	161675268	T	G	exonic	FCGR2B	.	nonsynonymous SNV	FCGR2B:NM_001190828:exon5:c.T751G:p.Y251D,FCGR2B:NM_001002275:exon6:c.T769G:p.Y257D,FCGR2B:NM_004001:exon6:c.T772G:p.Y258D	.	414	1106	2	0	0	2	0.000903342	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	.	0.0042	.	0.0036	0.0296	0.0019	0.0020	0.0002	0.0007	0.0014	0.0035	0.0027813	430	154602	rs148534844	0.0007	0.0011	0.0007	0.0006	0.0124	0.0006	0.0006	0.0114	0.0110	0.0124	0.0006	7.712e-05	0.0011	1.875e-05	0.0009	0.0003	0.0009	0.0008	0.0013	0.0015	0.0015	0.0011	0.0040	0.0012	0.0011	0.0035	0.0033	0.0040	0	0.0003	0	0.0012	0	0	0.0002	0.0019	0	0.225	0.19225	T	0.263	0.23298	T	0.001	0.07471	B	0.006	0.12133	B	0.276032	0.03802	N	1.572250	1	0.08975	N	0	0.06538	N	1.66	0.27486	T	0.68	0.02228	N	0.157	0.16308	-1.0063	0.28065	T	0.012	0.04558	T	10	0.004578322	0.00095	T	.	.	.	0.016	0.02506	.	.	0.0762999501168	0.06990	0.17898351202306328	0.17817	1.28758288876	0.82701	0.303321242332	0.10898	T	0.014142	0.12098	T	-0.62584	0.00101	T	-0.671897	0.07487	T	0.00127545891733533	0.00013	T	0.0831917	0.00611	T	0.04978741	0.08895	0.05930132	0.11107	0.04978741	0.08895	0.05930132	0.11107	-0.382	0.00516	T	.	.	0.069	0.07697	B	.;.	.;.	0.639066	0.10078	6.824	0.94905941052269716	0.25763	0.05310	0.11159	N	AEFBI	0.049183	0.08470	N	-1.02883612828005	0.08009	0.374046	-0.93139360021902	0.11356	0.5779729	1.66714316378475E-5	0.02871	0.67177	0.52595	0	0.702456	0.74545	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.06	-1.78	0.07527	0.099000	0.15047	0.441000	0.18425	-0.567000	0.04800	0.599000	0.27739	0.009000	0.19889	0.604000	0.31488	0.4674:0.0:0.1509:0.3817	3.841	0.08423	823	0.40596	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002847	0.019737	0.002740	0.004386	0.000000	0.000000	0.003356	0.000000	0.05263	424.83	36	chr1	161675268	.	T	G	424.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.364;DP=798;ExcessHet=0.119;FS=3.477;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=50.58;MQRankSum=-3.578;QD=2.61;ReadPosRankSum=0.937;SOR=0.621	GT:AD:DP:GQ:PL	0/1:70,24:94:99:352,0,1809	17	0	2	0
chr1	161983901	161983901	C	T	exonic	OLFML2B	.	nonsynonymous SNV	OLFML2B:NM_001297713:exon8:c.G2030A:p.C677Y,OLFML2B:NM_001347700:exon8:c.G2033A:p.C678Y,OLFML2B:NM_015441:exon8:c.G2027A:p.C676Y	.	427	1084	10	1	0	12	0.00550459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.847	0.167066119828	0.0002	.	0.0002	0	0	0	0	0.0001	0	0.0008	0.0001488	23	154602	rs370824607	0.0001	0.0001	8.712e-05	0.0001	0.0009	9.67e-05	9.149e-05	0.0006	0.0005	2.987e-05	0	0.0015	0	0	0.0009	3.417e-05	0.0003	0.0007	9.191e-05	9.186e-05	8.992e-05	9.399e-05	0.0004	5.523e-05	4.361e-05	7.287e-05	3.028e-05	2.406e-05	0	0	0.0020	0	0	0.0034	4.409e-05	0	0.0004	0.0	0.91255	D	0.003	0.76473	D	0.983	0.73220	D	0.921	0.74454	D	.	.	.	.	1	0.81001	D	1.89	0.50145	L	-2.5	0.89219	D	-9.08	0.98548	D	0.871	0.88027	0.784	0.94215	D	0.807	0.93475	D	8	0.7873117	0.78357	D	0.167066	0.84553	D	0.847	0.95249	.	.	0.932881014979	0.93219	0.9096319379814302	0.90937	0.729400297996	0.62658	0.812890827656	0.83936	D	0.541593	0.93327	D	0.165395	0.70699	D	0.367395	0.90976	D	0.621257960796356	0.37257	D	0.943906	0.80311	D	0.9276329	0.93999	0.9187358	0.96309	0.93766415	0.95009	0.9263098	0.96838	-11.002	0.79670	D	.	.	0.788	0.77218	P	.;.;.	.;.;.	5.058713	0.84304	28.3	0.99661189420652352	0.77947	0.88803	0.48908	D	AEFDBCI	0.883842	0.81307	D	0.767841531722784	0.84061	8.183745	0.728344913256454	0.84532	8.317898	0.999999999893159	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.586402	0.36253	0	.	.	5.36	5.36	0.76624	4.840000	0.62513	7.631000	0.62734	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	16.570	0.84457	888	0.27761	Olfactomedin-like domain|Olfactomedin-like domain|Olfactomedin-like domain;Olfactomedin-like domain|Olfactomedin-like domain|Olfactomedin-like domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.004076	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2499.33	34	chr1	161983901	.	C	T	2499.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.318;DP=782;ExcessHet=0;FS=0.588;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.43;ReadPosRankSum=-0.044;SOR=0.644	GT:AD:DP:GQ:PL	0/1:66,96:162:99:2513,0,1804	18	0	1	0
chr1	177942015	177942015	C	T	exonic	CRYZL2P-SEC16B;SEC16B	.	nonsynonymous SNV	SEC16B:NM_001356500:exon15:c.G884A:p.R295H,SEC16B:NM_033127:exon16:c.G1907A:p.R636H,CRYZL2P-SEC16B:NM_001356506:exon22:c.G1907A:p.R636H,CRYZL2P-SEC16B:NM_001356505:exon24:c.G1907A:p.R636H	.	418	1101	3	0	0	3	0.00136054	.	.	.	2333806	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.312	0.00881107065941	.	0.000199681	0.0003	0.0002	0.0010	0	0.0003	0.0002	0.0011	6.203e-05	0.0002781	43	154602	rs149895580	0.0002	0.0002	0.0002	0.0002	0.0031	0.0002	0.0002	0.0020	0.0017	0.0004	0.0007	3.826e-05	0	0.0002	0.0031	0.0002	0.0003	4.64e-05	0.0003	0.0003	0.0003	0.0003	0.0005	0.0003	0.0002	0.0003	0.0002	0.0005	0	0.0005	0	0	0.0003	0.0136	0.0002	0.0005	0.0002	0.002	0.72154	D	0.003	0.76473	D	1.0	0.90584	D	0.998	0.88582	D	0.000001	0.62929	D	0.000000	0.999996	0.58761	D	2.57	0.75187	M	2.22	0.18248	T	-4.83	0.80943	D	0.797	0.79310	-1.0107	0.26698	T	0.115	0.40897	T	10	0.4099046	0.56152	T	0.008811	0.23245	T	0.312	0.63375	.	.	0.579040693538	0.57574	0.6254638049979656	0.62479	0.305292617041	0.32830	0.582382440567	0.50420	T	0.086776	0.37799	T	-0.0682039	0.41614	T	0.0365176	0.72701	D	0.905131280422211	0.55879	D	0.935806	0.75965	D	0.5932958	0.72329	0.49210137	0.70621	0.5932958	0.72330	0.49210137	0.70621	-9.273	0.69437	D	.	.	0.142	0.31253	B	.	.	5.427744	0.90780	31	0.99946242809687935	0.99901	0.95659	0.65613	D	AEFDGBI	0.720343	0.67094	D	0.815098091516418	0.87043	9.083171	0.790280009064033	0.89109	9.842083	0.999998034640968	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.66	5.66	0.87293	4.283000	0.58770	7.697000	0.66086	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.9135:0.0:0.0865	10.706	0.45151	847	0.35998	Ancestral coatomer element 1, Sec16/Sec31	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.010101	0.004076	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1786.33	34	chr1	177942015	.	C	T	1786.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.55;DP=778;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.94;ReadPosRankSum=-0.358;SOR=0.753	GT:AD:DP:GQ:PL	0/1:69,69:138:99:1800,0,1585	18	0	1	0
chr1	178094677	178094677	G	C	exonic	RASAL2	.	nonsynonymous SNV	RASAL2:NM_170692:exon1:c.G185C:p.S62T	.	427	1092	3	0	0	3	0.00137174	.	.	.	3312284	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.035	0.00232213067589	.	.	0.0003	0.0001	0.0009	0	0	0.0003	0.0012	0	0.0003234	50	154602	rs144829800	0.0003	0.0003	0.0003	0.0003	0.0035	0.0002	0.0002	0.0023	0.0019	0.0003	0.0008	0	0	5.631e-05	0.0035	0.0003	0.0005	2.319e-05	0.0004	0.0004	0.0003	0.0004	0.0010	0.0003	0.0003	0.0006	0.0005	0.0002	0	0.0010	0	0	0	0.0068	0.0003	0.0057	0	0.029	0.45756	D	0.119	0.36101	T	.	.	.	.	.	.	0.003882	0.34365	N	0.200016	0.791572	0.29219	N	.	.	.	2.05	0.20664	T	-0.72	0.20358	N	0.166	0.17553	-1.0712	0.09151	T	0.033	0.14334	T	10	0.04786232	0.04159	T	0.002322	0.04479	T	0.035	0.08770	.	.	0.152612264143	0.14878	0.4252717431345127	0.42444	0.205719085667	0.22994	0.735093355179	0.72252	T	.	.	.	-0.477028	0.00770	T	-0.541026	0.18196	T	0.0440798290073872	0.04435	T	0.784022	0.42156	T	.	.	.	.	.	.	.	.	-4.837	0.35019	T	.	.	0.214	0.44267	B	.	.	4.116773	0.61501	24.3	0.97699432275333453	0.35424	0.81996	0.41294	D	ALL	0.573530	0.57668	D	-0.0922706292011575	0.37730	2.199405	0.0599635199434876	0.42555	2.576032	0.999999999911429	0.74766	0.542737	0.22433	0	0.491552	0.07993	0	0.685571	0.62057	0	0.372554	0.06265	0	.	.	3.89	3.89	0.44098	3.616000	0.53915	11.600000	0.93469	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	13.239	0.59416	694	0.58444	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007049	0.030303	0.001359	0.008772	0.000000	0.000000	0.006098	0.000000	0.02632	921.33	34	chr1	178094677	.	G	C	921.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.094;DP=742;ExcessHet=0;FS=4.233;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.84;ReadPosRankSum=1.25;SOR=0.348	GT:AD:DP:GQ:PL	0/1:49,36:85:99:935,0,1361	18	0	1	0
chr1	180430259	180430259	G	A	exonic	ACBD6	.	nonsynonymous SNV	ACBD6:NM_032360:exon4:c.C388T:p.P130S	.	1	1520	1	0	0	1	0.000328839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00292966988302	.	.	8.263e-06	0	0	0	0	0	0	6.061e-05	6.5e-06	1	154602	rs771460498	2.054e-06	3.42e-06	0	4.129e-06	3.479e-05	5.5e-07	1.5e-07	9.24e-06	4.56e-06	0	0	0	0	0	0	0	0	3.479e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.814	0.03005	T	0.811	0.03933	T	0.0	0.02946	B	0.001	0.04355	B	0.417213	0.12918	N	0.753644	0.999738	0.20548	N	0.145	0.08828	N	0.9	0.45248	T	0.82	0.01813	N	0.319	0.35938	-1.0028	0.29109	T	0.043	0.18576	T	10	0.03826508	0.02233	T	0.00293	0.06221	T	0.022	0.04323	0.408	0.44230	0.110078149338	0.10416	0.27494046575236	0.27407	0.0538255850715	0.05943	0.287481576204	0.08556	T	0.018757	0.15068	T	-0.335025	0.05740	T	-0.622162	0.11017	T	0.0112114525924664	0.00165	T	0.642236	0.25428	T	0.019509925	0.00483	0.040983226	0.04553	0.019509925	0.00483	0.040983226	0.04553	-4.624	0.32472	T	.	.	0.073	0.04558	B	.;.	.;.	0.867814	0.12404	8.941	0.50518940025565762	0.04398	0.07021	0.13047	N	AEFBI	0.061671	0.11805	N	-1.18179794554902	0.05276	0.2400984	-1.11250085053115	0.07461	0.3629863	0.76893299662932	0.23638	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.22	1.5	0.22029	0.092000	0.14905	0.662000	0.20512	-0.113000	0.14837	0.029000	0.20367	0.057000	0.21958	0.320000	0.24970	0.3084:0.0:0.5163:0.1754	4.689	0.12155	730	0.54327	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1216.33	33	chr1	180430259	.	G	A	1216.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.319;DP=724;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.7;ReadPosRankSum=-1.489;SOR=0.674	GT:AD:DP:GQ:PL	0/1:51,53:104:99:1230,0,1243	18	0	1	0
chr1	190098119	190098119	G	T	exonic	BRINP3	.	nonsynonymous SNV	BRINP3:NM_001317188:exon7:c.C1894A:p.L632M,BRINP3:NM_199051:exon8:c.C2200A:p.L734M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	0.015280078849	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1051491819	6.156e-06	6.156e-06	4.084e-06	8.25e-06	1.159e-05	2.9e-06	2.1e-06	2.62e-06	1.68e-06	0	0	0	0	0	0	6.295e-06	1.656e-05	1.159e-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	0.0	0.91255	D	0.09	0.40267	T	0.998	0.73220	D	0.99	0.78936	D	0.000002	0.62929	D	0.000000	0.999202	0.46326	D	2.08	0.57402	M	1.73	0.26445	T	-1.27	0.31981	N	0.8	0.79599	-0.9189	0.45702	T	0.147	0.47129	T	10	0.67981124	0.71211	D	0.01528	0.35920	T	0.239	0.54358	0.26	0.20315	0.42805410278	0.42423	0.5942186773620967	0.59351	0.729175682278	0.62649	0.77270424366	0.77829	T	0.136709	0.46923	T	0.0802228	0.62068	D	-0.122542	0.61593	T	0.922818541526794	0.58314	D	0.839216	0.51320	T	0.50185287	0.67203	0.43658304	0.67106	0.50185287	0.67204	0.43658304	0.67106	-5.281	0.39754	T	.	.	0.323	0.54689	B	.	.	4.108402	0.61310	24.3	0.99460689863903629	0.65788	0.90000	0.50843	D	AEFDCI	0.823473	0.74357	D	0.527106436178614	0.68697	5.253177	0.47540381795571	0.66363	4.942498	0.0332549029867327	0.14096	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.72	2.33	0.27981	4.908000	0.63003	4.463000	0.43466	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.2573:0.0:0.7427:0.0	10.476	0.43852	838	0.37812	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1468.33	39	chr1	190098119	.	G	T	1468.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.069;DP=752;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.66;ReadPosRankSum=0.572;SOR=0.68	GT:AD:DP:GQ:PL	0/1:56,60:116:99:1482,0,1481	18	0	1	0
chr1	200649207	200649207	G	A	exonic	DDX59	.	nonsynonymous SNV	DDX59:NM_001320182:exon3:c.C992T:p.P331L,DDX59:NM_001349803:exon5:c.C1082T:p.P361L,DDX59:NM_001031725:exon6:c.C1334T:p.P445L,DDX59:NM_001320181:exon6:c.C1334T:p.P445L,DDX59:NM_001349799:exon6:c.C1334T:p.P445L,DDX59:NM_001349800:exon6:c.C1334T:p.P445L,DDX59:NM_001349801:exon6:c.C1334T:p.P445L,DDX59:NM_001349802:exon6:c.C1334T:p.P445L	Orofaciodigital syndrome V, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2372983	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.582	0.334343131546	.	.	3.303e-05	0	0	0	0	6e-05	0	0	2.59e-05	4	154602	rs759952696	1.272e-05	1.231e-05	1.404e-05	1.138e-05	0.0004	7.95e-06	6.56e-06	0.0002	0.0001	0.0003	0	0	0	0	0.0004	2.733e-06	6.831e-05	0	4.605e-05	4.599e-05	3.857e-05	5.39e-05	7.253e-05	2.112e-05	1.528e-05	1.923e-05	1.033e-05	7.253e-05	0	0	0	0	0	0	4.411e-05	0.0005	0	0.001	0.78490	D	0.002	0.92824	D	0.999	0.77913	D	0.984	0.76113	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.645	0.77386	M	-3.01	0.92208	D	-7.99	0.98199	D	0.683	0.71854	0.844	0.94958	D	0.864	0.95468	D	10	0.8393837	0.83092	D	0.334343	0.91840	D	0.582	0.83193	0.475	0.55182	0.991932970914	0.99184	0.5998776223251384	0.59918	0.702978856379	0.61244	0.689804553986	0.65678	T	0.321815	0.82651	T	0.396376	0.89705	D	0.35677	0.90579	D	0.994411051273346	0.85688	D	0.957304	0.84976	D	0.7464466	0.80662	0.80405086	0.88524	0.7464466	0.80664	0.80405086	0.88525	-9.538	0.71461	D	0.7417136168889824	0.82378	0.502	0.64686	A	.;.;.;.	.;.;.;.	5.178372	0.86818	29.0	0.99779528622656022	0.86606	0.99185	0.92484	D	AEFBI	0.897513	0.83976	D	0.917971762643541	0.92612	11.52439	0.926424375990415	0.96625	14.93032	0.999999999999	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	6.06	6.06	0.98340	9.900000	0.98620	11.796000	0.96513	0.606000	0.46413	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:1.0:0.0	20.631	0.99528	630	0.65016	.;Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal;Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal;Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal	.	.	.	.	.	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	0.001007	0.005051	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	735.33	42	chr1	200649207	.	G	A	735.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.02;DP=809;ExcessHet=0;FS=0.965;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.14;ReadPosRankSum=-1.534;SOR=0.56	GT:AD:DP:GQ:PL	0/1:36,30:66:99:749,0,911	18	0	1	0
chr1	200990917	200990917	C	T	exonic	KIF21B	.	nonsynonymous SNV	KIF21B:NM_001252100:exon18:c.G2687A:p.R896Q,KIF21B:NM_001252102:exon18:c.G2687A:p.R896Q,KIF21B:NM_001252103:exon18:c.G2687A:p.R896Q,KIF21B:NM_017596:exon18:c.G2687A:p.R896Q	.	.	.	.	.	.	.	.	1.0000	0.994	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.329	0.169168897763	.	.	1.651e-05	0	0	0	0	3.004e-05	0	0	1.94e-05	3	154602	rs772829037	1.026e-05	1.026e-05	1.225e-05	8.251e-06	2.519e-05	6.16e-06	4.89e-06	5.75e-06	4.55e-06	0	0	0	2.519e-05	0	0	1.079e-05	1.656e-05	1.159e-05	6.57e-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	0.149	0.24758	T	0.118	0.37872	T	0.999	0.77913	D	0.99	0.78936	D	0.000000	0.84330	D	0.000000	0.99937	0.46831	D	2.72	0.79541	M	-0.38	0.73205	T	-1.12	0.28906	N	0.428	0.53884	0.120	0.84527	D	0.557	0.83859	D	9	0.4665807	0.59607	T	0.169169	0.84707	D	0.329	0.65126	.	.	0.787154669423	0.78518	0.3572940473629392	0.35643	1.5128637397	0.87273	0.627157628536	0.56742	T	0.039899	0.25345	T	0.0205095	0.54451	T	-0.208316	0.53856	T	0.909599125385284	0.56455	D	0.950405	0.81505	D	0.23810463	0.46684	0.14906001	0.35210	0.23810463	0.46684	0.14906001	0.35209	-3.722	0.22738	T	.	.	0.140	0.37312	B	.;.;.;.	.;.;.;.	8.079902	0.97157	37	0.99940748689451886	0.99797	0.91729	0.54139	D	AEFDGBI	0.661499	0.63170	D	0.523574652881001	0.68488	5.224019	0.432005852592048	0.63571	4.593338	0.874750165396409	0.25492	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	4.65	4.65	0.57626	4.066000	0.57236	7.382000	0.58460	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.643000	0.32503	0.0:1.0:0.0:0.0	15.051	0.71533	764	0.49969	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1159.33	35	chr1	200990917	.	C	T	1159.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.19;DP=749;ExcessHet=0;FS=1.875;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.86;ReadPosRankSum=0.9;SOR=0.495	GT:AD:DP:GQ:PL	0/1:38,40:78:99:1173,0,957	18	0	1	0
chr1	202158167	202158167	G	A	exonic	PTPN7	.	nonsynonymous SNV	PTPN7:NM_001364878:exon2:c.C257T:p.A86V,PTPN7:NM_080588:exon2:c.C374T:p.A125V,PTPN7:NM_001199797:exon3:c.C479T:p.A160V,PTPN7:NM_001364877:exon3:c.C257T:p.A86V,PTPN7:NM_002832:exon3:c.C257T:p.A86V	.	432	1075	15	0	0	15	0.00692841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.0182145862653	0.0006	0.000399361	0.0012	0.0003	0.0006	0.0003	0.0002	0.0006	0	0.0056	0.0010414	161	154602	rs149201621	0.0010	0.0010	0.0008	0.0012	0.0058	0.0009	0.0009	0.0054	0.0053	0.0001	0.0004	0	0.0001	5.623e-05	0.0033	0.0007	0.0010	0.0058	0.0006	0.0006	0.0005	0.0006	0.0044	0.0005	0.0004	0.0029	0.0024	0.0002	0.0033	0.0001	0	0	0.0003	0.0034	0.0007	0	0.0044	0.058	0.49117	T	0.119	0.40909	T	0.235	0.30743	B	0.071	0.27960	B	0.038538	0.24275	N	0.355400	1	0.81001	D	.	.	.	3.72	0.45248	T	-0.8	0.29114	N	0.192	0.23758	-1.0791	0.07524	T	0.071	0.28904	T	10	0.008551717	0.00194	T	0.018215	0.40210	T	0.075	0.21907	.	.	0.36355261348	0.35965	0.6123177138496367	0.61163	0.21174846284	0.23675	0.309781044722	0.11874	T	0.022947	0.23141	T	-0.487427	0.00671	T	-0.471289	0.25378	T	0.0127703123313459	0.00217	T	0.644736	0.28920	T	.	.	.	.	.	.	.	.	-5.11	0.38012	T	.	.	0.093	0.26419	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	2.325579	0.29784	18.23	0.98109745900258793	0.38343	0.62487	0.31796	D	AEFBHCI	0.142562	0.26503	N	-0.285985121300731	0.29688	1.648657	-0.168054291349961	0.32720	1.864308	0.999986809649594	0.51787	0.627647	0.40530	0	0.672317	0.65289	0	0.573078	0.19857	0	0.567892	0.33627	0	.	.	5.03	5.03	0.67015	1.348000	0.33592	0.957000	0.22964	-0.123000	0.13640	0.998000	0.41325	1.000000	0.68203	0.654000	0.32802	0.086:0.0:0.6142:0.2998	6.725	0.22539	839	0.37672	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004036	0.000000	0.000000	0.002924	0.000000	0.000000	0.009146	0.015267	0.05263	1865.83	37	chr1	202158167	.	G	A	1865.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.731;DP=737;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.82;ReadPosRankSum=0.706;SOR=0.698	GT:AD:DP:GQ:PL	0/1:28,31:59:99:855,0,692	17	0	2	0
chr1	203179557	203179557	G	A	exonic	CHI3L1	.	nonsynonymous SNV	CHI3L1:NM_001276:exon10:c.C1040T:p.A347V	.	.	.	.	.	.	.	.	.	.	.	3300899	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.258	0.0191133719927	.	0.000199681	8.438e-05	0	0	0.0006	0	3.067e-05	0	0.0002	7.12e-05	11	154602	rs527531482	3.502e-05	4.241e-05	3.41e-05	3.595e-05	0.0006	2.707e-05	2.447e-05	0.0004	0.0003	2.997e-05	4.488e-05	0	0.0006	0	0	3.611e-06	6.659e-05	0.0002	9.848e-05	9.842e-05	7.709e-05	0.0001	0.0005	6.002e-05	4.876e-05	0.0003	0.0002	2.405e-05	0	0.0005	0	0.0004	0	0	1.47e-05	0.0009	0.0002	0.001	0.78490	D	0.003	0.76473	D	1.0	0.90584	D	0.995	0.83170	D	0.000271	0.46590	D	0.000000	0.979151	0.39533	D	2.975	0.85398	M	3.34	0.06063	T	-3.11	0.63669	D	0.147	0.14905	-1.0973	0.04433	T	0.069	0.28346	T	10	0.33126026	0.50351	T	0.019113	0.41382	T	0.258	0.56959	0.864	0.95995	0.392547445146	0.38869	0.5168295949886434	0.51605	0.398618698346	0.40916	0.373900473118	0.21389	T	0.341965	0.71080	T	-0.349936	0.04732	T	-0.341555	0.40169	T	0.562225699424744	0.34939	D	0.974702	0.91007	D	0.8849571	0.90079	0.78760976	0.87497	0.8849571	0.90080	0.78760976	0.87498	-7.716	0.59119	D	.	.	0.416	0.60464	A	.	.	4.372822	0.67337	25.1	0.99888030097410863	0.96281	0.76541	0.37547	D	AEFBCI	0.511944	0.54036	D	0.639563358947231	0.75696	6.351653	0.520007244110961	0.69337	5.346062	0.999993822684443	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.608075	0.38828	0	0.542086	0.14980	0	.	.	4.7	3.78	0.42629	4.387000	0.59391	3.235000	0.36931	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.880000	0.42090	0.098:0.1786:0.7234:0.0	6.769	0.22771	884	0.28482	Glycoside hydrolase family 18, catalytic domain|Chitinase II	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	2587.83	61	chr1	203179557	.	G	A	2587.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.56;DP=924;ExcessHet=0.119;FS=1.719;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.87;ReadPosRankSum=1.23;SOR=0.573	GT:AD:DP:GQ:PL	0/1:56,56:112:99:1518,0,1394	17	0	2	0
chr1	204444146	204444146	C	T	exonic	PIK3C2B	.	nonsynonymous SNV	PIK3C2B:NM_001377334:exon18:c.G2789A:p.C930Y,PIK3C2B:NM_002646:exon20:c.G2789A:p.C930Y,PIK3C2B:NM_001377335:exon21:c.G2705A:p.C902Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.336	0.0395205411741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.846e-07	1.368e-06	1.362e-06	0	9.001e-07	0	0	.	.	0	0	0	0	0	0	9.001e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.051	0.49390	T	0.999	0.77913	D	0.985	0.76457	D	0.000000	0.84330	D	0.000000	0.997849	0.44246	D	2.33	0.66821	M	0.01	0.62459	T	-4.37	0.77061	D	0.851	0.84817	-0.6521	0.62622	T	0.334	0.70101	T	10	0.7551726	0.75928	D	0.039521	0.58854	D	0.336	0.65816	0.312	0.28612	0.731197027204	0.72880	0.44362017305618334	0.44280	1.35405607476	0.84143	0.879551887512	0.93900	D	0.617515	0.87964	D	0.289904	0.82147	D	0.17865	0.81918	D	0.956505954265594	0.64774	D	0.920508	0.71260	D	0.453303	0.64250	0.49103993	0.70556	0.453303	0.64251	0.49103993	0.70557	-10.862	0.78895	D	.	.	0.601	0.79505	P	.;.	.;.	4.755519	0.76829	26.6	0.9976745670120315	0.85583	0.90357	0.51468	D	ALL	0.660412	0.63099	D	0.458512160282776	0.64688	4.728999	0.511871425671665	0.68789	5.26863	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.674467	0.66132	0	.	.	5.98	5.98	0.97147	2.703000	0.46778	7.616000	0.62106	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.144:0.856:0.0:0.0	14.830	0.69772	648	0.63242	Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain;Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3947	3415.12	35	chr1	204444146	.	C	T	3415.12	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-4.545;DP=2707;ExcessHet=20.8569;FS=226.245;InbreedingCoeff=-0.6776;MLEAC=15;MLEAF=0.395;MQ=60;MQRankSum=0;QD=1.58;ReadPosRankSum=0.629;SOR=12.531	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:117,29:146:99:.:.:127,0,2779:.	4	0	15	0
chr1	204981885	204981885	G	A	exonic	NFASC	.	nonsynonymous SNV	NFASC:NM_001160331:exon19:c.G2368A:p.V790I,NFASC:NM_001160332:exon20:c.G2323A:p.V775I,NFASC:NM_001365986:exon20:c.G2323A:p.V775I,NFASC:NM_015090:exon20:c.G2323A:p.V775I,NFASC:NM_001005388:exon21:c.G2335A:p.V779I,NFASC:NM_001378329:exon21:c.G2335A:p.V779I	.	421	1097	4	0	0	4	0.00181984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.00612815847291	0.0002	0.000798722	0.0005	0.0008	0	0	0	0.0002	0.0011	0.0022	0.0003752	58	154602	rs138192492	0.0002	0.0002	9.841e-05	0.0002	0.0018	0.0001	0.0001	0.0016	0.0015	0.0006	6.864e-05	0	2.554e-05	0	0.0010	3.336e-05	0.0002	0.0018	0.0004	0.0004	0.0003	0.0005	0.0025	0.0003	0.0003	0.0014	0.0011	0.0008	0	0.0001	0	0	9.411e-05	0	0.0001	0.0005	0.0025	0.202	0.20230	T	0.326	0.18789	T	0.885	0.48692	P	0.076	0.28435	B	0.523058	0.11720	N	0.718663	0.999997	0.08975	N	0.78	0.19475	N	0.54	0.54911	T	-0.72	0.21860	N	0.162	0.21319	-1.0857	0.06281	T	0.071	0.28871	T	10	0.00950259	0.00214	T	0.006128	0.16052	T	0.059	0.16972	.	.	0.534106118305	0.53061	0.2867249458681292	0.28585	0.345015265624	0.36424	0.417907416821	0.27550	T	0.100248	0.40587	T	-0.538448	0.00342	T	-0.553004	0.17038	T	0.0104422871713251	0.00144	T	0.870713	0.57574	D	.	.	.	.	.	.	.	.	-7.269	0.59802	T	.	.	0.167	0.37633	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.224847	0.63937	24.6	0.99394004801425784	0.62474	0.75794	0.37129	D	AEFBI	0.190046	0.31729	N	-0.148109470182116	0.35316	2.026903	0.0214917531940202	0.40715	2.434264	0.991819414638955	0.32618	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.55	5.55	0.83298	3.599000	0.53795	9.697000	0.81291	0.676000	0.76740	0.880000	0.30988	1.000000	0.68203	0.924000	0.46004	0.1539:0.0:0.8461:0.0	9.782	0.39821	804	0.43891	.;.;.;.;.;.;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2898.33	34	chr1	204981885	.	G	A	2898.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.41;DP=862;ExcessHet=0;FS=1.727;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.35;ReadPosRankSum=-0.342;SOR=0.841	GT:AD:DP:GQ:PL	0/1:91,111:202:99:2912,0,2144	18	0	1	0
chr1	205915010	205915010	C	T	exonic	SLC26A9	.	nonsynonymous SNV	SLC26A9:NM_134325:exon22:c.G2546A:p.R849Q	.	419	1023	79	1	0	81	0.0380818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.300	.	0.0039	0.00758786	0.0076	0.0012	0.0028	0.0122	0.0011	0.0057	0.0066	0.0228	0.0072315	1118	154602	rs140760240	0.0060	0.0060	0.0053	0.0066	0.0283	0.0058	0.0058	0.0247	0.0234	0.0013	0.0038	0.0086	0.0104	0.0009	0.0283	0.0047	0.0069	0.0228	0.0046	0.0046	0.0046	0.0047	0.0155	0.0044	0.0042	0.0127	0.0117	0.0013	0	0.0041	0.0087	0.0133	0.0004	0.0102	0.0059	0.0047	0.0155	0.0	0.91255	D	.	.	.	.	.	.	.	.	.	0.000003	0.00162	N	14.346700	1	0.08975	N	.	.	.	-3.25	0.93532	D	0.0	0.07008	N	0.071	0.04426	-0.3220	0.74366	T	0.403	0.75338	T	10	0.0027073324	0.00042	T	.	.	.	0.300	0.62068	.	.	0.194818534648	0.19098	0.01893306541877592	0.01847	0.157990632338	0.17844	0.204608500004	0.00603	T	.	.	.	-0.420421	0.01699	T	-0.359096	0.38158	T	0.0319549881320626	0.02299	T	0.394461	0.09873	T	.	.	.	.	.	.	.	.	-2.854	0.08691	T	.	.	0.086	0.10931	B	.;.	.;.	0.554397	0.09227	6.012	0.63638908723729615	0.07277	0.03938	0.09333	N	AEFGBI	0.081607	0.16514	N	-1.3979216659568	0.02658	0.1176788	-1.38142597711257	0.03449	0.1609509	0.992175131580337	0.32745	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.59	2.76	0.31527	0.003000	0.12984	0.330000	0.17274	-1.718000	0.00733	0.000000	0.06391	0.000000	0.08366	0.027000	0.12703	0.0:0.9104:0.0:0.0896	12.608	0.55889	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	0.018127	0.005051	0.020380	0.023392	0.000000	0.034483	0.018293	0.011364	0.05263	5515.83	33	chr1	205915010	.	C	T	5515.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.03;DP=1124;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.59;ReadPosRankSum=0.595;SOR=0.694	GT:AD:DP:GQ:PL	0/1:127,92:219:99:2276,0,3096	17	0	2	0
chr1	206909474	206909474	G	C	exonic	FCMR	.	nonsynonymous SNV	FCMR:NM_001193338:exon6:c.C901G:p.R301G	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	.	.	0.00139776	0.0270	0.0667	.	0	.	0	.	0	0.0001229	19	154602	rs528456314	0.0001	0.0001	0.0001	9.865e-05	0.0037	9.623e-05	9.037e-05	0.0031	0.0029	0.0037	0.0012	0	0	0	0.0018	1.375e-05	0.0003	0	0.0009	0.0010	0.0009	0.0009	0.0030	0.0008	0.0008	0.0026	0.0024	0.0030	0	0.0007	0	0	0	0	7.354e-05	0.0019	0	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.18198	N	.	.	.	.	.	.	.	.	.	0.113	0.10056	-1.0270	0.21429	T	0.032	0.13767	T	6	0.0033306181	0.00057	T	.	.	.	.	.	.	.	0.141422826196	0.13715	.	.	.	.	.	.	.	.	.	.	-0.700234	0.00036	T	-0.780087	0.02450	T	0.00980626724475899	0.00129	T	0.316668	0.06305	T	.	.	.	.	.	.	.	.	-3.384	0.14842	T	.	.	0.099	0.16800	B	.	.	-0.105964	0.03606	0.708	0.65275282016790193	0.07727	0.05551	0.11447	N	ALL	0.036408	0.04845	N	-1.22292746244925	0.04669	0.2112092	-1.48493912080499	0.02467	0.1135334	1.0	0.98316	0.542737	0.22433	0	0.685571	0.66316	0	0.378051	0.06126	2	0.63947	0.58350	0	.	.	3.2	-6.4	0.01772	-1.785000	0.01864	-5.346000	0.01753	-0.166000	0.11466	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.0833:0.3226:0.1563:0.4379	3.663	0.07781	752	0.51611	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002525	0.000000	0.007576	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	501.33	33	chr1	206909474	.	G	C	501.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.657;DP=665;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.9;ReadPosRankSum=-3.025;SOR=0.68	GT:AD:DP:GQ:PL	0/1:21,25:46:99:515,0,431	18	0	1	0
chr1	210464645	210464645	G	A	exonic	HHAT	.	nonsynonymous SNV	HHAT:NM_001170564:exon6:c.G586A:p.G196R,HHAT:NM_001170587:exon7:c.G1000A:p.G334R,HHAT:NM_001170588:exon7:c.G802A:p.G268R,HHAT:NM_001122834:exon8:c.G997A:p.G333R,HHAT:NM_001170580:exon8:c.G997A:p.G333R,HHAT:NM_018194:exon8:c.G997A:p.G333R	.	.	.	.	.	.	.	.	.	.	.	707060	Chondrodysplasia-pseudohermaphroditism_syndrome|not_provided|HHAT-related_disorder	MONDO:MONDO:0010814,MedGen:C1838654,OMIM:600092,Orphanet:1422|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.438	.	0.0077	0.00938498	0.0027	0.0262	0.0024	0	0	0.0004	0.0022	6.062e-05	0.0027619	427	154602	rs61744143	0.0012	0.0012	0.0013	0.0010	0.0260	0.0011	0.0011	0.0246	0.0240	0.0260	0.0033	0.0001	0	0	0.0035	0.0004	0.0032	0.0001	0.0077	0.0077	0.0080	0.0074	0.0249	0.0073	0.0072	0.0237	0.0232	0.0249	0	0.0047	0	0	0	0.0136	0.0006	0.0085	0.0002	0.016	0.59928	D	0.043	0.56192	D	1.0	0.90584	D	0.978	0.74104	D	0.000052	0.53742	D	0.162289	1	0.81001	D	1.635	0.41844	L	-0.71	0.72889	T	-2.28	0.50830	N	0.836	0.84401	-0.6264	0.63723	T	0.168	0.50713	T	10	0.010553986	0.00234	T	.	.	.	0.438	0.74235	0.635	0.77142	0.827525497501	0.82589	0.8547606727789311	0.85439	0.542418983261	0.51350	0.833783388138	0.87142	D	0.524219	0.83417	D	-0.21474	0.18716	T	-0.0609637	0.66265	T	0.0328902155635902	0.02453	T	0.833717	0.50261	T	0.19860359	0.41769	0.227478	0.47760	0.20134771	0.42143	0.22642021	0.47618	-11.047	0.79915	D	.	.	0.419	0.68768	A	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.437157	0.90890	32	0.99916498836079992	0.98449	0.96054	0.67324	D	AEFDBHCIJ	0.839862	0.75722	D	0.516727387813039	0.68079	5.168036	0.497621854045349	0.67833	5.137145	1.0	0.98316	0.638212	0.43195	0	0.670034	0.63936	0	0.597571	0.31856	0	0.620846	0.47308	0	.	.	5.56	5.56	0.83678	7.595000	0.81968	9.927000	0.82550	-0.105000	0.15698	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.0:0.0:1.0:0.0	18.310	0.90135	816	0.41767	.;.;.;.;.;.;.;.	.	.	.	.	.	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	0.010101	0.002717	0.005848	0.000000	0.000000	0.003049	0.000000	0.02632	755.33	33	chr1	210464645	.	G	A	755.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.15;DP=674;ExcessHet=0;FS=5.09;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.11;ReadPosRankSum=-0.645;SOR=1.386	GT:AD:DP:GQ:PL	0/1:39,29:68:99:769,0,987	18	0	1	0
chr1	213242258	213242258	C	T	exonic	RPS6KC1	.	nonsynonymous SNV	RPS6KC1:NM_001349663:exon6:c.C1387T:p.R463C,RPS6KC1:NM_001349665:exon7:c.C1387T:p.R463C,RPS6KC1:NM_001349667:exon8:c.C1387T:p.R463C,RPS6KC1:NM_001349670:exon8:c.C1387T:p.R463C,RPS6KC1:NM_001349672:exon8:c.C1387T:p.R463C,RPS6KC1:NM_001287220:exon9:c.C1387T:p.R463C,RPS6KC1:NM_001349657:exon9:c.C1891T:p.R631C,RPS6KC1:NM_001349664:exon9:c.C1387T:p.R463C,RPS6KC1:NM_001349671:exon9:c.C1387T:p.R463C,RPS6KC1:NM_001136138:exon10:c.C2746T:p.R916C,RPS6KC1:NM_001287221:exon10:c.C2239T:p.R747C,RPS6KC1:NM_001349646:exon10:c.C2689T:p.R897C,RPS6KC1:NM_001349647:exon10:c.C2419T:p.R807C,RPS6KC1:NM_001349666:exon10:c.C1387T:p.R463C,RPS6KC1:NM_001349668:exon10:c.C1387T:p.R463C,RPS6KC1:NM_001287218:exon11:c.C2146T:p.R716C,RPS6KC1:NM_001287219:exon11:c.C2146T:p.R716C,RPS6KC1:NM_001349658:exon11:c.C1891T:p.R631C,RPS6KC1:NM_001349661:exon11:c.C1726T:p.R576C,RPS6KC1:NM_001349669:exon11:c.C1387T:p.R463C,RPS6KC1:NM_012424:exon11:c.C2782T:p.R928C,RPS6KC1:NM_001349648:exon12:c.C2239T:p.R747C,RPS6KC1:NM_001349649:exon12:c.C2239T:p.R747C,RPS6KC1:NM_001349653:exon12:c.C2239T:p.R747C,RPS6KC1:NM_001349654:exon12:c.C2146T:p.R716C,RPS6KC1:NM_001349662:exon12:c.C1726T:p.R576C,RPS6KC1:NM_001349650:exon13:c.C2239T:p.R747C,RPS6KC1:NM_001349652:exon13:c.C2239T:p.R747C,RPS6KC1:NM_001349659:exon13:c.C1726T:p.R576C,RPS6KC1:NM_001349651:exon14:c.C2239T:p.R747C,RPS6KC1:NM_001349660:exon14:c.C1726T:p.R576C	.	.	.	.	.	.	.	.	.	.	.	1901763	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.499	0.0447128789857	.	.	1.66e-05	0	0	0	0	1.502e-05	0	6.057e-05	1.29e-05	2	154602	rs757612838	1.71e-05	1.71e-05	1.906e-05	1.513e-05	8.95e-05	1.174e-05	9.92e-06	2.986e-05	1.805e-05	0	8.95e-05	3.828e-05	2.52e-05	0	0	1.529e-05	0	2.319e-05	1.972e-05	1.97e-05	2.571e-05	1.345e-05	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.97372	D	0.009776	0.30209	N	0.373122	0.999997	0.81001	D	2.01	0.54746	M	0.79	0.49068	T	-7.26	0.94377	D	0.852	0.91852	-0.6722	0.61729	T	0.246	0.61506	T	10	0.95690346	0.95060	D	0.044713	0.61626	D	0.499	0.78288	0.926	0.98773	0.77307478232	0.77099	0.8927348098397787	0.89243	0.47321134245	0.46553	0.883287847042	0.94399	D	0.133013	0.48819	T	0.103155	0.64631	D	0.136	0.79291	D	0.78664493560791	0.45471	D	0.994912	0.98266	D	0.44475228	0.63707	0.50968045	0.71665	0.44475228	0.63708	0.50968045	0.71665	-9.658	0.72218	D	.	.	0.651	0.74177	P	.;.;.;.;.;.	.;.;.;.;.;.	5.485971	0.91432	32	0.99911428284674031	0.98095	0.91532	0.53727	D	AEFBI	0.417224	0.48535	N	0.501554620980338	0.67183	5.047654	0.459963257176594	0.65358	4.813878	9.49640246122201E-4	0.08042	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.75	3.79	0.42757	3.364000	0.52052	7.724000	0.67448	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1353:0.7913:0.0:0.0734	10.073	0.41516	520	0.74355	Protein kinase domain|Protein kinase domain|Protein kinase domain|RPK118-like, kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain|RPK118-like, kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain|RPK118-like, kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain|RPK118-like, kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain|RPK118-like, kinase domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1039.33	33	chr1	213242258	.	C	T	1039.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.52;DP=690;ExcessHet=0;FS=7.534;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.5;ReadPosRankSum=-0.531;SOR=1.739	GT:AD:DP:GQ:PL	0/1:29,34:63:99:1053,0,719	18	0	1	0
chr1	214646928	214646928	G	C	exonic	CENPF	.	nonsynonymous SNV	CENPF:NM_016343:exon13:c.G7358C:p.R2453T	Stromme syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00712553887273	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.852e-07	0.0001	1.364e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.659e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.351	0.12265	T	0.155	0.31936	T	.	.	.	.	.	.	0.662890	0.10412	N	0.800711	1	0.08975	N	.	.	.	4.12	0.02891	T	-1.2	0.30555	N	0.086	0.06322	-0.8929	0.48677	T	0.004	0.01400	T	10	0.042184114	0.02943	T	0.007126	0.18896	T	0.040	0.10527	.	.	0.0611884634855	0.05136	0.0757247840033901	0.07508	0.0964886587777	0.10898	0.305488526821	0.11225	T	.	.	.	-0.357922	0.04248	T	-0.751907	0.03412	T	0.078707791864872	0.09821	T	0.586341	0.21412	T	0.023646625	0.01122	0.026679387	0.00771	0.023646625	0.01122	0.026679387	0.00771	-0.003	0.00350	T	.	.	0.053	0.00280	B	.	.	0.422405	0.07928	4.638	0.30367532224271809	0.01657	0.11969	0.16977	N	AEFBCI	0.060270	0.11442	N	-1.24191438059187	0.04407	0.1988328	-1.17781697995167	0.06282	0.3018846	0.831134689009249	0.24696	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.31	1.68	0.23219	2.487000	0.44926	4.177000	0.42312	-0.142000	0.12367	0.512000	0.27048	0.990000	0.31317	0.015000	0.10482	0.6981:0.1476:0.1543:0.0	5.783	0.17581	902	0.24074	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05556	1127.73	96	chr1	214646928	.	G	C	1127.73	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-3.846;DP=1307;ExcessHet=0.3672;FS=274.902;InbreedingCoeff=-0.1029;MLEAC=2;MLEAF=0.056;MQ=60;MQRankSum=0;QD=4.24;ReadPosRankSum=3.2;SOR=8.286	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:72,24:96:99:0|1:214646926_G_A:482,0,2748:214646926	16	0	2	1
chr1	214646930	214646933	GTGG	-	exonic	CENPF	.	frameshift deletion	CENPF:NM_016343:exon13:c.7360_7363del:p.V2454Qfs*21	Stromme syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	608.79	97	chr1	214646929	.	AGTGG	A	608.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.286;DP=1712;ExcessHet=0.119;FS=156.065;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=3.15;ReadPosRankSum=3.23;SOR=7.275	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:72,24:96:99:0|1:214646926_G_A:482,0,2748:214646926	17	0	2	0
chr1	214646930	214646930	G	0	exonic	CENPF	.	.	.	Stromme syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	521.69	97	chr1	214646930	.	G	*	521.69	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-3.687;DP=1148;ExcessHet=0.3672;FS=272.812;InbreedingCoeff=-0.329;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=1.95;ReadPosRankSum=3.2;SOR=8.286	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:72,24:96:99:0|1:214646926_G_A:482,0,2748:214646926	5	0	2	12
chr1	214646931	214646931	T	0	exonic	CENPF	.	.	.	Stromme syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	526.21	97	chr1	214646931	.	T	*	526.21	.	AC=2;AF=0.25;AN=8;BaseQRankSum=-1.344;DP=1165;ExcessHet=0.3672;FS=274.902;InbreedingCoeff=-0.3818;MLEAC=4;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.98;ReadPosRankSum=3.24;SOR=8.286	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:72,24:96:99:0|1:214646926_G_A:482,0,2748:214646926	2	0	2	15
chr1	214646932	214646932	G	0	exonic	CENPF	.	.	.	Stromme syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09091	520.36	97	chr1	214646932	.	G	*	520.36	.	AC=2;AF=0.091;AN=22;BaseQRankSum=-3.694;DP=1227;ExcessHet=0.3672;FS=274.902;InbreedingCoeff=-0.2287;MLEAC=3;MLEAF=0.136;MQ=60;MQRankSum=0;QD=1.96;ReadPosRankSum=3.17;SOR=8.286	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:72,24:96:99:0|1:214646926_G_A:482,0,2748:214646926	9	0	2	8
chr1	214646933	214646933	-	CCAA	exonic	CENPF	.	frameshift insertion	CENPF:NM_016343:exon13:c.7363_7364insCCAA:p.A2456Nfs*5	Stromme syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	612.54	96	chr1	214646933	.	G	GCCAA	612.54	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-1.781;DP=1137;ExcessHet=0.119;FS=155.141;InbreedingCoeff=-0.0704;MLEAC=2;MLEAF=0.056;MQ=60;MQRankSum=0;QD=3.19;ReadPosRankSum=3.19;SOR=7.275	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:72,24:96:99:0|1:214646926_G_A:482,0,2748:214646926	16	0	2	1
chr1	220154029	220154029	G	C	exonic	RAB3GAP2	.	nonsynonymous SNV	RAB3GAP2:NM_012414:exon32:c.C3584G:p.T1195S	Martsolf syndrome, Autosomal recessive;Warburg micro syndrome 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.00874835817134	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.849e-07	5.199e-05	1.363e-06	0	9.003e-07	0	0	.	.	0	0	0	0	0	0	9.003e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	0.21066	T	0.709	0.05544	T	0.918	0.50838	P	0.243	0.38752	B	0.000001	0.62929	D	0.097802	0.989506	0.40966	D	1.965	0.53209	M	1.55	0.29866	T	-1.19	0.30346	N	0.147	0.14905	-1.1200	0.02331	T	0.056	0.23715	T	10	0.2658563	0.44086	T	0.008748	0.23099	T	0.141	0.37795	0.358	0.36060	0.223474106383	0.21959	0.16981700195601018	0.16901	0.592570687533	0.54640	0.739543437958	0.72906	T	0.027942	0.20352	T	-0.137119	0.30348	T	-0.434738	0.29399	T	0.899769723415375	0.55214	D	0.762924	0.38892	T	0.1383725	0.32004	0.21677402	0.46317	0.1383725	0.32004	0.21677402	0.46316	-2.787	0.08064	T	0.07926114128440298	0.03886	0.096	0.15475	B	.	.	3.368266	0.46533	22.3	0.99285218365232031	0.58043	0.98279	0.81205	D	AEFBI	0.720452	0.67101	D	0.402651685043986	0.61569	4.359683	0.526830799331264	0.69803	5.412558	0.999690459879266	0.41870	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.73	5.73	0.89730	6.424000	0.73282	11.862000	0.98348	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.260	0.98443	533	0.73433	Rab3GAP regulatory subunit, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2895	441.37	57	chr1	220154029	.	G	C	441.37	.	AC=11;AF=0.289;AN=38;BaseQRankSum=-2.586;DP=1759;ExcessHet=8.9063;FS=228.055;InbreedingCoeff=-0.3733;MLEAC=10;MLEAF=0.263;MQ=60;MQRankSum=0;QD=0.45;ReadPosRankSum=-0.074;SOR=12.31	GT:AD:DP:GQ:PL	0/1:60,29:89:37:37,0,943	8	0	11	0
chr1	223393701	223393701	T	G	exonic	CCDC185	.	nonsynonymous SNV	CCDC185:NM_152610:exon1:c.T226G:p.S76A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.00179220895613	.	.	0.0003	0	0	0	0	0	0	0.0019	9.06e-05	14	154602	rs763628133	4.993e-05	5.199e-05	1.812e-05	8.232e-05	0.0009	4.036e-05	3.705e-05	0.0007	0.0006	0	0	0	0	0	0	0	0	0.0009	6.567e-06	6.562e-06	0	1.343e-05	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	1.0	0.00964	T	0.957	0.02568	T	0.002	0.09854	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	2.3	0.16953	T	-0.55	0.16799	N	0.059	0.03069	-1.0319	0.19841	T	0.017	0.06759	T	9	0.0054500997	0.00120	T	0.001792	0.03063	T	0.007	0.00512	0.108	0.01928	0.12205267543	0.11705	0.02333443951462832	0.02285	0.110173587776	0.12430	.	.	.	0.019577	0.15574	T	-0.714634	0.00030	T	-0.855646	0.00891	T	0.0198648963727437	0.00688	T	0.156384	0.01374	T	0.029302994	0.02403	0.04339641	0.05390	0.029302994	0.02403	0.04339641	0.05390	-3.817	0.21059	T	.	.	0.077	0.06479	B	.	.	-1.149779	0.00584	0.015	0.39301441528064712	0.02703	0.01054	0.03923	N	AEFDBCIJ	0.024306	0.01484	N	-1.846398885713	0.00441	0.0189811	-1.98407751071806	0.00331	0.01460531	0.999999999494318	0.74766	0.59774	0.34471	0	0.573888	0.26702	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	3.65	-7.3	0.01298	-2.613000	0.00957	-3.678000	0.02611	-0.218000	0.08083	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.357:0.1425:0.1055:0.3949	1.113	0.01603	884	0.28482	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	349.33	34	chr1	223393701	.	T	G	349.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.72;DP=639;ExcessHet=0;FS=5.501;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.59;ReadPosRankSum=0.506;SOR=1.343	GT:AD:DP:GQ:PL	0/1:21,12:33:99:363,0,544	18	0	1	0
chr1	225353860	225353860	A	G	exonic	DNAH14	.	nonsynonymous SNV	DNAH14:NM_001367479:exon73:c.A11591G:p.K3864R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.0424221383888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0016	0.0003	0.0002	0.0004	0.0002	0.0002	0.0002	0.0002	0.0003	6.329e-05	0	0.0004	0.0005	0	0.0003	0.0002	6.899e-05	0	2.638e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.304	0.14303	T	0.086	0.40909	T	0.112	0.26290	B	0.061	0.26820	B	.	.	.	.	1	0.81001	D	.	.	.	3.13	0.08014	T	-1.32	0.32991	N	0.141	0.17140	-0.9601	0.39162	T	0.017	0.06759	T	8	0.075534165	0.11687	T	0.042422	0.60457	D	0.042	0.11227	0.473	0.54859	0.233150807113	0.22925	.	.	.	.	0.547701478004	0.45533	T	.	.	.	-0.290318	0.09604	T	-0.654798	0.08622	T	0.429603158532435	0.30046	T	0.441056	0.12198	T	.	.	.	.	.	.	.	.	-5.073	0.37622	T	.	.	.	.	.	.;.	.;.	2.621798	0.34075	19.52	0.98831738548241499	0.46969	0.78159	0.38520	D	AEFI	0.292450	0.40332	N	-0.1412954714505	0.35606	2.047334	0.0119223341972131	0.40267	2.400417	0.496201815749716	0.20905	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.96	4.96	0.65153	1.434000	0.34567	3.589000	0.39183	0.709000	0.85303	0.997000	0.40164	0.992000	0.31684	0.992000	0.67800	1.0:0.0:0.0:0.0	12.415	0.54820	620	0.66037	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	262.36	36	chr1	225353860	.	A	G	262.36	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-1.991;DP=1066;ExcessHet=0.7564;FS=260.681;InbreedingCoeff=-0.1456;MLEAC=2;MLEAF=0.056;MQ=60;MQRankSum=0;QD=1.03;ReadPosRankSum=0.76;SOR=8.254	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:65,22:87:99:0|1:225353860_A_G:261,0,2323:225353860	16	0	2	1
chr1	225353861	225353861	A	0	exonic	DNAH14	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07692	869.52	36	chr1	225353861	.	A	*	869.52	.	AC=2;AF=0.077;AN=26;BaseQRankSum=-2.045;DP=1063;ExcessHet=2.0135;FS=206.778;InbreedingCoeff=-0.3117;MLEAC=3;MLEAF=0.115;MQ=60;MQRankSum=0;QD=2;ReadPosRankSum=0.977;SOR=9.022	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:64,13:87:62:0|1:225353860_A_G:323,0,2602:225353860	11	0	2	6
chr1	225353862	225353862	-	GGGG	exonic	DNAH14	.	frameshift insertion	DNAH14:NM_001367479:exon73:c.11593_11594insGGGG:p.L3865Rfs*15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	1172.62	36	chr1	225353862	.	C	CGGGG	1172.62	.	AC=4;AF=0.125;AN=32;BaseQRankSum=-0.853;DP=1106;ExcessHet=2.0135;FS=185.32;InbreedingCoeff=-0.246;MLEAC=4;MLEAF=0.125;MQ=60;MQRankSum=0;QD=2.52;ReadPosRankSum=2.05;SOR=9.811	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:64,13:87:62:.:.:323,0,2602:.	12	0	4	3
chr1	225514708	225514708	G	A	exonic	ENAH	.	nonsynonymous SNV	ENAH:NM_001377483:exon6:c.C995T:p.A332V,ENAH:NM_001008493:exon7:c.C1106T:p.A369V,ENAH:NM_018212:exon7:c.C1106T:p.A369V,ENAH:NM_001377481:exon8:c.C1163T:p.A388V,ENAH:NM_001377482:exon8:c.C1163T:p.A388V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.233	0.112320486811	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.797e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.048	0.50514	D	0.997	0.70673	D	0.97	0.72226	D	0.003271	0.35183	N	0.226742	0.999596	0.58761	D	2.275	0.64647	M	-0.04	0.63240	T	-1.67	0.39887	N	0.63	0.64393	0.348	0.88309	D	0.643	0.87528	D	10	0.4695522	0.59778	T	0.11232	0.79042	D	0.233	0.53499	0.104	0.01698	0.612357999405	0.60923	0.16674359625552354	0.16594	0.92458102789	0.71591	0.674778223038	0.63520	T	0.277514	0.65013	T	0.133822	0.67732	D	-0.0455502	0.67325	D	0.946237564086914	0.62427	D	0.848015	0.53747	T	0.17252353	0.37948	0.16418302	0.38047	0.17252353	0.37948	0.16418302	0.38046	-10.699	0.78566	D	.	.	0.227	0.48510	B	.;.;.	.;.;.	4.298915	0.65622	24.9	0.99888774019022097	0.96359	0.99573	0.97585	D	AEFDBI	0.882683	0.81099	D	0.729987147899231	0.81600	7.559994	0.719044094803892	0.83827	8.124527	0.999999999997317	0.74766	0.651	0.46895	0	0.59043	0.45803	0	0.693117	0.63056	0	0.683762	0.67416	0	.	.	5.21	5.21	0.72005	8.455000	0.90207	11.320000	0.92525	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	18.735	0.91713	679	0.60090	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	371.5	33	chr1	225514708	.	G	A	371.5	.	AC=3;AF=0.125;AN=24;BaseQRankSum=-2.545;DP=1500;ExcessHet=0.3672;FS=220.131;InbreedingCoeff=-0.243;MLEAC=4;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.38;ReadPosRankSum=-0.256;SOR=11.083	GT:AD:DP:GQ:PL	0/1:59,40:104:99:221,0,979	9	0	3	7
chr1	230357055	230357055	C	T	exonic	PGBD5	.	nonsynonymous SNV	PGBD5:NM_001258311:exon2:c.G598A:p.A200T	.	429	1057	36	0	0	36	0.0167442	.	.	.	696566	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.358	.	0.0045	0.00698882	0.0068	0.0008	0.0033	0	0.0065	0.0058	0.0088	0.0205	0.0063259	978	154602	rs41315609	0.0063	0.0063	0.0058	0.0069	0.0208	0.0062	0.0062	0.0200	0.0196	0.0009	0.0029	0.0030	2.519e-05	0.0076	0.0132	0.0058	0.0057	0.0208	0.0052	0.0052	0.0048	0.0056	0.0203	0.0049	0.0048	0.0171	0.0159	0.0011	0.0088	0.0041	0.0017	0.0006	0.0072	0.0136	0.0070	0.0033	0.0203	0.019	0.50132	D	0.0	0.92824	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	0.895	0.22405	L	2.25	0.17761	T	-1.97	0.45587	N	0.819	0.81459	-1.1567	0.00839	T	0.060	0.25237	T	10	0.008564383	0.00194	T	.	.	.	0.358	0.67872	.	.	0.198526703765	0.19489	0.6185808216366527	0.61791	1.03234423226	0.75462	0.636188805103	0.58023	T	.	.	.	-0.140888	0.29750	T	0.0292734	0.72232	D	0.0248253129137804	0.01249	T	0.925008	0.72455	D	0.43868607	0.63317	0.5046682	0.71369	0.43868607	0.63318	0.5046682	0.71369	-7.423	0.57066	T	.	.	0.175	0.52102	B	.;.	.;.	4.125597	0.61694	24.4	0.99934615814858752	0.99535	0.98341	0.81803	D	AEFBI	0.851227	0.76807	D	0.541228674228767	0.69549	5.372841	0.552156647955467	0.71547	5.671552	0.999999999999823	0.74766	0.833774	0.99917	0	0.59043	0.45803	0	0.0	0.00061	3	0.613276	0.41899	0	.	.	6.03	6.03	0.97798	6.034000	0.70575	7.554000	0.60334	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.738000	0.35369	0.0:1.0:0.0:0.0	20.557	0.99307	835	0.38313	PiggyBac transposable element-derived protein;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.014099	0.000000	0.005435	0.011696	0.000000	0.000000	0.033537	0.018939	0.02632	2084.33	40	chr1	230357055	.	C	T	2084.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.16;DP=792;ExcessHet=0;FS=2.109;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.18;ReadPosRankSum=1.65;SOR=0.93	GT:AD:DP:GQ:PL	0/1:70,77:147:99:2098,0,1699	18	0	1	0
chr1	237550673	237550673	G	T	exonic	RYR2	.	nonsynonymous SNV	RYR2:NM_001035:exon27:c.G3196T:p.A1066S	Arrhythmogenic right ventricular dysplasia 2, Autosomal dominant;Ventricular tachycardia, catecholaminergic polymorphic, 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.335	0.169283851854	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.422e-06	2.052e-06	1.405e-06	1.44e-06	2.514e-05	2.4e-07	9e-08	4.17e-06	1.56e-06	0	0	0	0	0	0	0	0	2.514e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.245	0.17410	T	.	.	.	0.145	0.27759	B	0.111	0.31539	B	0.000058	0.53742	U	0.000000	0.996362	0.43162	D	-0.46	0.02758	N	-2.82	0.91192	D	-0.95	0.25332	N	0.537	0.56489	-0.1789	0.78208	T	0.510	0.81580	D	10	0.29017356	0.46598	T	0.169284	0.84716	D	0.335	0.65718	0.45	0.51121	0.78724523546	0.78527	0.39698793874963356	0.39613	0.866143613972	0.69213	0.644794344902	0.59245	T	0.380095	0.74271	T	0.0452542	0.57731	T	-0.172772	0.57190	T	0.946088671684265	0.62396	D	0.844016	0.52137	T	0.11549932	0.27255	0.1262546	0.30410	0.11549932	0.27254	0.1262546	0.30409	-5.44	0.41303	T	0.12484149308500965	0.12315	0.152	0.33550	B	.;.	.;.	3.271816	0.44790	22.0	0.98943810730752502	0.48997	0.92666	0.56251	D	AEFBI	0.600385	0.59303	D	-0.17835508541025	0.34036	1.937998	-0.00360588457217916	0.39554	2.346877	0.0413174984080965	0.14479	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.14	5.14	0.70008	2.741000	0.47100	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.478000	0.28520	0.0:0.149:0.8509:0.0	14.244	0.65522	940	0.13648	B30.2/SPRY domain;B30.2/SPRY domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1842.33	36	chr1	237550673	.	G	T	1842.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.616;DP=788;ExcessHet=0;FS=1.332;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.71;ReadPosRankSum=-0.568;SOR=0.576	GT:AD:DP:GQ:PL	0/1:69,76:145:99:1856,0,1858	18	0	1	0
chr1	243341076	243341076	C	G	exonic	SDCCAG8	.	nonsynonymous SNV	SDCCAG8:NM_001350249:exon11:c.C965G:p.A322G,SDCCAG8:NM_006642:exon11:c.C1259G:p.A420G,SDCCAG8:NM_001350247:exon12:c.C356G:p.A119G,SDCCAG8:NM_001350248:exon12:c.C1355G:p.A452G,SDCCAG8:NM_001350246:exon13:c.C356G:p.A119G,SDCCAG8:NM_001350251:exon14:c.C356G:p.A119G	Bardet-Biedl syndrome 16, Autosomal recessive;Senior-Loken syndrome 7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.00869716703568	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.464	0.08634	T	0.385	0.19188	T	0.617	0.39849	P	0.178	0.35748	B	0.030023	0.25368	N	0.417546	0.94277	0.28573	N	1.405	0.35469	L	0.9	0.45636	T	-1.5	0.36586	N	0.226	0.25377	-1.0500	0.14397	T	0.074	0.29834	T	10	0.07874256	0.12585	T	0.008697	0.22976	T	0.070	0.20419	0.098	0.01383	0.445614145163	0.44183	0.05782877387694253	0.05723	0.0454073510886	0.04925	0.313101500273	0.12376	T	0.03253	0.22527	T	-0.180905	0.23600	T	-0.497634	0.22594	T	0.689531981945038	0.40226	D	0.861914	0.55630	D	0.17646994	0.38561	0.07023531	0.14896	0.17646994	0.38560	0.07023531	0.14895	-6.26	0.48405	T	0.12034814503952256	0.11306	0.103	0.18497	B	.;.	.;.	1.387519	0.17995	13.49	0.99526268765805481	0.69591	0.19837	0.20814	N	AEFDBHCI	0.111687	0.22105	N	-0.217229129123775	0.32428	1.828616	-0.164742144960509	0.32845	1.872714	0.999372431080844	0.39355	0.741868	0.97996	0	0.743671	0.97443	0	0.653264	0.51672	0	0.662026	0.63922	0	.	.	5.88	3.99	0.45527	0.479000	0.21938	1.102000	0.24078	0.599000	0.40250	0.223000	0.24568	0.543000	0.25426	0.995000	0.73285	0.0:0.6065:0.2569:0.1366	7.515	0.26764	603	0.67726	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	607.33	33	chr1	243341076	.	C	G	607.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.711;DP=698;ExcessHet=0;FS=3.237;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.99;ReadPosRankSum=1.24;SOR=0.969	GT:AD:DP:GQ:PL	0/1:50,26:76:99:621,0,1337	18	0	1	0
chr1	247256985	247256985	A	T	exonic	VN1R5	.	unknown	UNKNOWN	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.2e-05	.	0.0003	0	0	0.0029	0.0003	1.498e-05	0.0033	6.056e-05	0.000207	32	154602	rs200531164	0.0002	0.0002	0.0002	0.0002	0.0058	0.0002	0.0002	0.0052	0.0049	0	0	0	0.0058	1.873e-05	0.0002	2.968e-05	0.0002	5.797e-05	7.878e-05	7.873e-05	6.423e-05	9.399e-05	0.0017	4.493e-05	3.509e-05	0.0009	0.0007	0	0	0	0	0.0017	9.422e-05	0	1.47e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	2314.33	140	chr1	247256985	.	A	T	2314.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.107;DP=1298;ExcessHet=0;FS=1.369;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.89;ReadPosRankSum=0.613;SOR=0.83	GT:AD:DP:GQ:PL	0/1:56,81:137:99:2328,0,1478	18	0	1	0
chr1	247723591	247723591	C	-	exonic	OR14A2	.	frameshift deletion	OR14A2:NM_001355292:exon5:c.453delG:p.L152Sfs*20	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2398.29	33	chr1	247723590	.	GC	G	2398.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.901;DP=791;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.11;ReadPosRankSum=-1.768;SOR=0.693	GT:AD:DP:GQ:PL	0/1:88,82:170:99:2412,0,2607	18	0	1	0
chr1	247738723	247738723	G	A	exonic	OR14K1	.	nonsynonymous SNV	OR14K1:NM_001004732:exon1:c.G109A:p.V37M	.	432	1083	7	0	0	7	0.00322135	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.000843318760879	0.0002	.	4.972e-05	0	8.673e-05	0	0	4.497e-05	0.0011	6.057e-05	5.82e-05	9	154602	rs201271082	0.0001	0.0001	8.387e-05	0.0001	0.0029	8.31e-05	7.57e-05	0.0017	0.0013	0.0003	0.0005	0	0	0	0.0029	4.286e-05	0.0002	0.0001	0.0002	0.0002	0.0002	0.0002	0.0005	0.0001	0.0001	0.0003	0.0003	0.0005	0	0.0003	0	0	0	0.0068	2.94e-05	0.0009	0	0.03	0.45393	D	0.019	0.59159	D	.	.	.	.	.	.	0.426261	0.04678	N	1.880630	1	0.08975	N	.	.	.	4.35	0.02319	T	0.63	0.02404	N	0.124	0.11626	-0.9934	0.31722	T	0.007	0.02282	T	7	0.04402861	0.03316	T	8.43E-4	0.00713	T	0.018	0.03083	.	.	0.0138822411134	0.00435	0.05187000595156568	0.05128	0.0662604446901	0.07392	.	.	.	0.006925	0.06354	T	-0.6403	0.00083	T	-0.823373	0.01385	T	0.0367441129090987	0.03111	T	0.138486	0.01104	T	0.026860323	0.01798	0.04696181	0.06662	0.026860323	0.01798	0.04696181	0.06661	-5.155	0.38481	T	.	.	0.105	0.19316	B	.	.	-1.437702	0.00334	0.006	0.59070062216873132	0.06138	0.00090	0.00598	N	AEFBI	0.021481	0.00961	N	-1.39077501083498	0.02724	0.1206785	-1.64703671820107	0.01391	0.06286533	0.144485070848767	0.17333	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.6	-7.21	0.01340	-6.679000	0.00071	.	.	-1.688000	0.00776	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2935:0.342:0.2724:0.092	3.020	0.05704	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	.	.	.	.	.	.	.	.	0.02632	2786.33	34	chr1	247738723	.	G	A	2786.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.551;DP=863;ExcessHet=0;FS=5.146;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.47;ReadPosRankSum=-0.255;SOR=0.602	GT:AD:DP:GQ:PL	0/1:131,112:243:99:2800,0,3423	18	0	1	0
chr2	18586369	18586369	C	T	exonic	NT5C1B;NT5C1B-RDH14	.	nonsynonymous SNV	NT5C1B-RDH14:NM_001199103:exon3:c.G143A:p.R48Q,NT5C1B:NM_033253:exon3:c.G143A:p.R48Q,NT5C1B:NM_001002006:exon4:c.G323A:p.R108Q,NT5C1B:NM_001199086:exon4:c.G272A:p.R91Q,NT5C1B:NM_001199087:exon4:c.G374A:p.R125Q,NT5C1B:NM_001199088:exon4:c.G323A:p.R108Q,NT5C1B-RDH14:NM_001199104:exon4:c.G323A:p.R108Q	.	.	.	.	.	.	.	.	.	.	.	4035300	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.190	0.0185663404648	7.7e-05	0.000199681	0.0002	0.0002	0.0010	0	0	8.999e-05	0.0022	0.0002	0.000207	32	154602	rs142174343	0.0002	0.0002	0.0002	0.0002	0.0007	0.0001	0.0001	0.0005	0.0004	0.0002	0.0007	0	0.0001	1.872e-05	0.0003	0.0001	0.0003	0.0003	0.0002	0.0002	0.0002	0.0001	0.0004	0.0001	9.701e-05	0.0001	0.0001	0.0002	0	6.539e-05	0	0	0	0	0.0002	0	0.0004	0.263	0.16412	T	0.352	0.42261	T	0.0	0.12996	B	0.0	0.04355	B	0.838318	0.06984	N	1.087140	1	0.08975	N	-0.895	0.01383	N	-2.51	0.89293	D	-0.16	0.09460	N	0.126	0.11912	-0.7812	0.56235	T	0.351	0.71494	T	10	0.02041331	0.00470	T	0.018566	0.40677	T	0.190	0.46781	.	.	0.359357374593	0.35551	0.08682586276288319	0.08616	0.210819982291	0.23697	.	.	.	0.039761	0.25301	T	-0.347545	0.04883	T	-0.396452	0.33797	T	0.00276035768911242	0.00029	T	0.774523	0.40643	T	0.028543588	0.02207	0.029702142	0.01339	0.028543588	0.02206	0.029702142	0.01338	-4.427	0.32297	T	.	.	0.075	0.10062	B	.;.;.;.;.	.;.;.;.;.	0.274725	0.06519	3.003	0.88178239172764306	0.17776	0.00801	0.03263	N	AEFBI	0.025239	0.01695	N	-1.37304416489769	0.02893	0.1284196	-1.41737910403805	0.03078	0.1428836	0.99687969703263	0.35080	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	4.04	-2.85	0.05392	-0.332000	0.07948	0.180000	0.15620	-0.148000	0.12190	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.0861:0.1315:0.2736:0.5087	3.696	0.07898	896	0.25515	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1044.33	33	chr2	18586369	.	C	T	1044.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.44;DP=723;ExcessHet=0;FS=0.818;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.48;ReadPosRankSum=0.642;SOR=0.587	GT:AD:DP:GQ:PL	0/1:50,41:91:99:1058,0,1216	18	0	1	0
chr2	23864893	23864893	T	C	exonic	ATAD2B	.	nonsynonymous SNV	ATAD2B:NM_001242338:exon11:c.A1220G:p.H407R,ATAD2B:NM_017552:exon11:c.A1220G:p.H407R,ATAD2B:NM_001354107:exon12:c.A1262G:p.H421R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.0116478170939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.077e-06	4.105e-06	4.129e-06	0	2.717e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.717e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.448	0.09048	T	0.527	0.10209	T	.	.	.	.	.	.	.	.	.	.	0.955574	0.37932	D	.	.	.	-3.53	0.94764	D	-1.58	0.38151	N	0.19	0.20793	-0.8923	0.48731	T	0.148	0.47344	T	9	0.17789313	0.32846	T	0.011648	0.29486	T	0.219	0.51417	0.331	0.31681	0.672754582956	0.66998	0.6648068104265349	0.66417	0.60285670828	0.55282	0.627035319805	0.56724	T	.	.	.	0.0664316	0.60411	T	-0.142352	0.59914	T	0.361597471305519	0.27471	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.11845	B	.	.	3.381871	0.46779	22.4	0.96857722296242954	0.31369	0.92978	0.57018	D	AEFBI	0.378817	0.46207	N	0.214845505970457	0.51920	3.369515	0.360670962237465	0.59152	4.090821	0.916302595852516	0.26509	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.84	5.84	0.93373	4.206000	0.58271	6.222000	0.55136	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.532	0.84210	788	0.46569	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	1906.46	28	chr2	23864893	.	T	C	1906.46	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-2.108;DP=1231;ExcessHet=31.086;FS=215.109;InbreedingCoeff=-0.7907;MLEAC=17;MLEAF=0.447;MQ=60;MQRankSum=0;QD=1.67;ReadPosRankSum=1.27;SOR=11.901	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:43,32:75:99:.:.:205,0,528:.	2	0	17	0
chr2	24209966	24209966	T	G	exonic	ITSN2	.	nonsynonymous SNV	ITSN2:NM_001348182:exon34:c.A4205C:p.Y1402S,ITSN2:NM_019595:exon34:c.A4244C:p.Y1415S,ITSN2:NM_006277:exon35:c.A4325C:p.Y1442S,ITSN2:NM_001348181:exon36:c.A4283C:p.Y1428S	.	.	.	.	.	.	.	.	.	.	.	3198817	ITSN2-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.207	.	0.0002	0.0081869	0.0023	0.0005	8.637e-05	0.0311	0	0	0.0011	0.0001	0.0022315	345	154602	rs148365890	0.0011	0.0011	0.0011	0.0010	0.0365	0.0010	0.0010	0.0349	0.0343	0.0001	4.472e-05	0	0.0365	0	0	4.496e-06	0.0018	0.0003	0.0012	0.0012	0.0009	0.0015	0.0318	0.0011	0.0010	0.0279	0.0263	0.0002	0	0.0002	0	0.0318	0	0	4.41e-05	0.0019	0.0004	0.115	0.28520	T	0.238	0.24840	T	0.716	0.42206	P	0.174	0.35540	B	0.097973	0.20002	U	0.250456	0.991865	0.42537	D	2.44	0.70756	M	1.34	0.34841	T	-4.81	0.80767	D	0.561	0.60833	-1.1091	0.03148	T	0.025	0.10464	T	10	0.008633465	0.00196	T	.	.	.	0.207	0.49555	.	.	0.68311903528	0.68041	0.6324804500197794	0.63182	0.214580205157	0.23995	0.542705655098	0.44828	T	0.216709	0.57894	T	-0.392248	0.02602	T	-0.312529	0.43385	T	0.070752283693125	0.08756	T	0.962554	0.86152	D	0.47038516	0.65314	0.43796545	0.67198	0.39251018	0.60210	0.41800782	0.65837	-9.304	0.69632	D	.	.	0.342	0.56045	A	.;.;.	.;.;.	3.791486	0.54572	23.5	0.95430142097258441	0.26922	0.95585	0.65310	D	AEFDGBIJ	0.537319	0.55517	D	0.00477090299461903	0.42072	2.528119	0.0898321219183544	0.44035	2.693177	0.626699685109067	0.21932	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.26	4.26	0.49832	2.896000	0.48355	3.491000	0.38715	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	13.708	0.62131	309	0.87553	.;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	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1008.33	36	chr2	24209966	.	T	G	1008.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.12;DP=712;ExcessHet=0;FS=1.801;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12;ReadPosRankSum=-0.009;SOR=0.572	GT:AD:DP:GQ:PL	0/1:47,37:84:99:1022,0,1076	18	0	1	0
chr2	32388763	32388763	C	T	exonic	BIRC6	.	nonsynonymous SNV	BIRC6:NM_001378125:exon4:c.C575T:p.T192I,BIRC6:NM_016252:exon4:c.C659T:p.T220I	.	.	.	.	.	.	.	.	.	.	.	4101186	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.437	0.0169989667319	7.7e-05	.	0.0002	0	8.7e-05	0	0	0.0002	0	0.0005	0.0001423	22	154602	rs141023338	6.42e-05	6.704e-05	5.906e-05	6.938e-05	0.0014	5.343e-05	4.955e-05	0.0007	0.0005	0	7.123e-05	0.0009	0	0	0.0014	3.074e-05	8.366e-05	0.0002	5.913e-05	5.91e-05	6.423e-05	5.379e-05	5.879e-05	3.077e-05	2.21e-05	1.972e-05	1.124e-05	0	0	0	0.0012	0	0	0	5.879e-05	0.0005	0	0.007	0.59928	D	0.003	0.76473	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	.	.	.	-0.88	0.74689	T	-1.9	0.44284	N	0.832	0.82761	-0.1613	0.78639	T	0.415	0.76198	T	10	0.56686145	0.65099	D	0.016999	0.38515	T	0.437	0.74164	.	.	0.849981730449	0.84853	0.640950145742989	0.64030	0.214563039367	0.23989	0.710480213165	0.68663	T	.	.	.	0.0710586	0.60978	D	0.163231	0.81003	D	0.197222590446472	0.20261	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.250	0.48448	B	.	.	3.431664	0.47700	22.5	0.99454732909965482	0.65479	0.96761	0.70797	D	AEFBI	0.575366	0.57778	D	0.577962769074001	0.71801	5.706421	0.626197395973568	0.76848	6.567315	0.99998599788066	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.58	5.58	0.84361	4.851000	0.62594	7.577000	0.60860	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	19.568	0.95394	294	0.88270	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	970.33	33	chr2	32388763	.	C	T	970.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.02;DP=702;ExcessHet=0;FS=4.519;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.28;ReadPosRankSum=-0.039;SOR=1.255	GT:AD:DP:GQ:PL	0/1:43,36:79:99:984,0,1102	18	0	1	0
chr2	47905515	47905515	T	G	exonic	FBXO11	.	nonsynonymous SNV	FBXO11:NM_001190274:exon1:c.A206C:p.Q69P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.0587684685251	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.847e-06	1.368e-06	0	3.848e-06	2.166e-06	3.1e-07	1.2e-07	3.6e-07	1.4e-07	0	0	0	0	0	0	2.166e-06	0	0	6.617e-06	6.575e-06	0	1.354e-05	1.478e-05	0	0	.	.	0	0	0	0	0	0	0	1.478e-05	0	0	0.313	0.13879	T	0.355	0.17217	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	0	0.06538	N	0.82	0.48142	T	-0.42	0.14193	N	0.403	0.44379	-1.0943	0.04854	T	0.059	0.24760	T	7	0.14366207	0.27272	T	0.058768	0.67431	D	0.142	0.37995	0.233	0.16155	0.438144244647	0.43432	0.1277951998195003	0.12705	0.454471116637	0.45140	0.838419854641	0.87853	D	0.06598	0.32826	T	-0.00437789	0.51050	T	-0.244065	0.50400	T	0.218983114378409	0.21413	T	0.378962	0.09121	T	0.16107403	0.36092	0.2811677	0.54096	0.16107403	0.36091	0.2811677	0.54095	-2.579	0.06345	T	.	.	0.049	0.00117	B	.	.	2.860085	0.37787	20.6	0.9161953772289485	0.20904	0.13315	0.17786	N	AEFDGBHCI	0.166968	0.29360	N	-0.230397304829005	0.31892	1.792922	-0.167364290113835	0.32744	1.866042	0.99999998286376	0.74766	0.242642	0.04205	2	0.218748	0.04544	0	0.391439	0.06340	0	0.581474	0.35302	0	.	.	2.63	2.63	0.30420	1.213000	0.32011	2.563000	0.33324	0.494000	0.22454	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	6.808	0.22970	883	0.28872	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	109.34	17	chr2	47905515	.	T	G	109.34	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.664;DP=399;ExcessHet=0;FS=2.241;InbreedingCoeff=-0.0279;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=4.37;ReadPosRankSum=0.485;SOR=0.223	GT:AD:DP:GQ:PL	0/1:18,7:25:99:123,0,614	18	0	1	0
chr2	48580986	48580986	G	T	exonic	STON1;STON1-GTF2A1L	.	nonsynonymous SNV	STON1-GTF2A1L:NM_001198594:exon1:c.G353T:p.G118V,STON1-GTF2A1L:NM_001198593:exon2:c.G353T:p.G118V,STON1:NM_006873:exon2:c.G353T:p.G118V,STON1-GTF2A1L:NM_172311:exon2:c.G353T:p.G118V,STON1:NM_001198595:exon3:c.G353T:p.G118V	.	432	1026	62	2	0	66	0.0311615	.	.	.	733507	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.030	.	0.0026	0.00778754	0.0054	0.0013	0.0018	0.0001	0.0003	0.0040	0.0037	0.0300	0.0054851	848	154602	rs72824125	0.0049	0.0050	0.0044	0.0055	0.0274	0.0048	0.0048	0.0265	0.0261	0.0008	0.0021	0.0022	7.622e-05	0.0006	0.0149	0.0039	0.0057	0.0274	0.0040	0.0040	0.0036	0.0044	0.0297	0.0037	0.0036	0.0257	0.0242	0.0009	0	0.0058	0.0040	0	0.0003	0.0034	0.0044	0.0104	0.0297	0.002	0.78490	D	0.019	0.62352	D	0.679	0.50421	P	0.186	0.50118	B	0.073959	0.21314	N	0.440845	0.999999	0.08975	N	2.555	0.74557	M	2.67	0.12988	T	-2.11	0.48020	N	0.281	0.31925	-1.1121	0.02895	T	0.051	0.21806	T	10	0.004071653	0.00080	T	.	.	.	0.030	0.07022	.	.	0.461583377977	0.45782	0.30531859660048793	0.32329	0.00635658170257	0.00556	0.266003608704	0.05627	T	0.074824	0.35030	T	-0.530244	0.00383	T	-0.513485	0.20957	T	0.0225075360226289	0.00965	T	0.720328	0.33319	T	0.057194978	0.11353	0.089182906	0.20839	0.057194978	0.11352	0.089182906	0.20839	-2.982	0.09988	T	0.335890859238464	0.43380	0.098	0.26978	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.091475	0.04949	1.519	0.98612776587068196	0.43664	0.28104	0.23462	N	AEFBI	0.125934	0.24266	N	-0.309415810970022	0.28789	1.590911	-0.495834929041824	0.22269	1.20867	0.00737552665866971	0.11451	0.706548	0.73137	0	0.610034	0.51514	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	4.81	1.94	0.25058	0.279000	0.18532	0.831000	0.21948	0.665000	0.62972	0.005000	0.17040	0.853000	0.27411	0.112000	0.18829	0.0748:0.2703:0.655:0.0	9.474	0.38027	527	0.73864	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.020725	0.005051	0.025815	0.020979	0.100000	0.034483	0.006098	0.030303	0.05263	6276.83	34	chr2	48580986	.	G	T	6276.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.492;DP=2064;ExcessHet=0.119;FS=5.02;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=-0.193;SOR=1.071	GT:AD:DP:GQ:PL	0/1:144,124:268:99:3358,0,3754	17	0	2	0
chr2	68380846	68380846	A	C	exonic	PLEK	.	nonsynonymous SNV	PLEK:NM_002664:exon3:c.A322C:p.K108Q	.	429	1073	19	1	0	21	0.00969082	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	.	0.0006	0.00898562	0.0072	0.0004	0.0010	0	0	0.0016	0.0044	0.0448	0.0061642	953	154602	rs34515106	0.0034	0.0034	0.0023	0.0045	0.0416	0.0033	0.0033	0.0404	0.0400	8.964e-05	0.0007	0.0246	7.558e-05	5.616e-05	0.0029	0.0004	0.0047	0.0416	0.0023	0.0023	0.0016	0.0029	0.0414	0.0021	0.0020	0.0367	0.0349	0.0001	0	0.0005	0.0236	0.0002	0	0	0.0007	0.0009	0.0414	0.34	0.12714	T	0.245	0.24054	T	0.546	0.38028	P	0.154	0.34351	B	0.000007	0.62929	D	0.176415	0.998056	0.44459	D	1.445	0.36358	L	2.09	0.20122	T	-0.83	0.22727	N	0.295	0.33360	-1.0637	0.10855	T	0.031	0.13418	T	10	0.004865825	0.00104	T	.	.	.	0.070	0.20419	.	.	0.617017443408	0.61392	0.41767449752869146	0.41683	0.226157206265	0.25167	0.572419404984	0.49020	T	0.146341	0.48389	T	-0.494014	0.00618	T	-0.451693	0.27511	T	0.0243076559245668	0.01183	T	0.948605	0.80233	D	0.24333003	0.47270	0.088147804	0.20533	0.24333003	0.47270	0.088147804	0.20533	-4.34	0.28734	T	.	.	0.121	0.25034	B	.	.	3.326929	0.45779	22.2	0.97958558228684089	0.37158	0.92082	0.54905	D	AEFBCI	0.873794	0.79633	D	0.20340031234684	0.51364	3.318211	0.353056940264651	0.58690	4.041289	0.999999991328986	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.8	5.8	0.92081	5.808000	0.68834	11.185000	0.88454	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.8621:0.1378:0.0:0.0	12.643	0.56079	564	0.70960	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1314.33	34	chr2	68380846	.	A	C	1314.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.427;DP=788;ExcessHet=0;FS=2.322;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.77;ReadPosRankSum=-0.917;SOR=0.746	GT:AD:DP:GQ:PL	0/1:66,56:122:99:1328,0,1664	18	0	1	0
chr2	70993734	70993734	T	C	exonic	TEX261	.	nonsynonymous SNV	TEX261:NM_144582:exon2:c.A112G:p.T38A	.	428	1090	4	0	0	4	0.0018315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.364	.	0.0007	0.0107827	0.0079	0.0002	0.0423	0.0302	0.0057	0.0019	0.0033	0.0021	0.0073673	1139	154602	rs151285112	0.0027	0.0027	0.0029	0.0025	0.0377	0.0026	0.0026	0.0362	0.0356	0.0003	0.0377	0.0053	0.0225	0.0057	0.0006	0.0004	0.0040	0.0017	0.0043	0.0043	0.0039	0.0048	0.0245	0.0040	0.0039	0.0220	0.0212	0.0005	0	0.0241	0.0063	0.0245	0.0043	0	0.0007	0.0090	0.0012	0.004	0.65419	D	0.009	0.72224	D	0.979	0.59044	D	0.973	0.72923	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.53	0.73802	M	.	.	.	-3.83	0.72120	D	0.785	0.78356	-0.3919	0.72282	T	0.262	0.63339	T	9	0.009312004	0.00210	T	.	.	.	0.364	0.68407	.	.	0.244539031024	0.24083	0.9567365325411059	0.95658	2.76950302636	0.98794	0.747094035149	0.74018	T	0.303789	0.67612	T	-0.0878043	0.38437	T	0.129667	0.78872	D	0.0219382681559926	0.00902	T	0.851715	0.56785	D	0.50696236	0.67502	0.340587	0.59809	0.50696236	0.67503	0.340587	0.59808	-3.864	0.21764	T	.	.	0.636	0.72332	P	.;.	.;.	4.742912	0.76508	26.5	0.99817844683714196	0.90061	0.94132	0.60209	D	AEFDBHCI	0.889863	0.82435	D	0.741130192078565	0.82326	7.735127	0.707858982232676	0.82975	7.902083	0.999999999977627	0.74766	0.660085	0.49399	0	0.685571	0.66316	0	0.662677	0.59975	0	0.638787	0.57140	0	.	.	5.17	5.17	0.70848	7.280000	0.77977	7.874000	0.72122	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	13.011	0.58139	844	0.36711	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	474.33	44	chr2	70993734	.	T	C	474.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.092;DP=686;ExcessHet=0;FS=1.236;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.16;ReadPosRankSum=1.45;SOR=0.818	GT:AD:DP:GQ:PL	0/1:19,20:39:99:488,0,516	18	0	1	0
chr2	85343319	85343319	C	T	exonic	RETSAT	.	nonsynonymous SNV	RETSAT:NM_017750:exon11:c.G1756A:p.A586T	.	407	1094	21	0	0	21	0.00950656	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	.	0.0089	.	0.0086	0.0052	0.0056	0	0.0086	0.0119	0.0198	0.0030	0.0078524	1214	154602	rs143283662	0.0081	0.0095	0.0081	0.0081	0.0296	0.0080	0.0079	0.0260	0.0246	0.0051	0.0044	0.0146	2.519e-05	0.0085	0.0296	0.0088	0.0092	0.0023	0.0079	0.0087	0.0082	0.0077	0.0109	0.0076	0.0074	0.0102	0.0100	0.0045	0.0044	0.0069	0.0168	0.0002	0.0054	0.0340	0.0109	0.0128	0.0037	0.359	0.11957	T	0.435	0.13518	T	0.392	0.34646	B	0.06	0.26717	B	0.021399	0.26843	N	0.378221	0.886002	0.35849	D	1.145	0.29067	L	1.85	0.24472	T	-0.13	0.08971	N	0.027	0.00571	-1.0511	0.14092	T	0.022	0.09330	T	10	0.0038142502	0.00072	T	.	.	.	0.041	0.10877	.	.	0.0806252709748	0.07271	0.34702988945191915	0.34616	0.0721809193313	0.08090	0.345627218485	0.17275	T	0.003362	0.02768	T	-0.485256	0.00690	T	-0.462848	0.26288	T	0.00579000855353255	0.00063	T	0.782822	0.41925	T	0.0648611	0.13805	0.06569235	0.13352	0.0648611	0.13805	0.06569235	0.13352	-6.015	0.46406	T	.	.	0.074	0.05145	B	.	.	2.508222	0.32389	19.03	0.97707709646145702	0.35477	0.14533	0.18453	N	AEFDGBI	0.082621	0.16731	N	-0.468265707214611	0.23126	1.23968	-0.422141506085331	0.24348	1.332844	0.905570000125748	0.26208	0.631515	0.41029	0	0.697927	0.68747	0	0.606735	0.37207	0	0.741806	0.99463	0	.	.	5.02	2.79	0.31792	0.546000	0.22991	0.355000	0.17517	0.505000	0.23025	0.159000	0.23783	0.026000	0.21063	0.654000	0.32802	0.0:0.6331:0.0:0.3669	5.069	0.13935	888	0.27761	.	.	.	.	.	chr2:85570442	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.034240	0.040404	0.048913	0.043860	0.050000	0.043103	0.021341	0.007576	0.05263	1343.83	110	chr2	85343319	.	C	T	1343.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.99;DP=864;ExcessHet=0.119;FS=1.824;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=5.79;ReadPosRankSum=0.308;SOR=0.545	GT:AD:DP:GQ:PL	0/1:99,23:122:99:406,0,2562	17	0	2	0
chr2	85349530	85349530	T	C	exonic	RETSAT	.	nonsynonymous SNV	RETSAT:NM_017750:exon5:c.A851G:p.H284R	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.476	0.0559423765479	.	0.000798722	0.0006	0.0002	0	0.0069	0	0	0.0011	0.0004	0.0004786	74	154602	rs201718270	0.0003	0.0003	0.0003	0.0003	0.0096	0.0003	0.0003	0.0088	0.0085	5.974e-05	0	0	0.0096	0	0	2.698e-06	0.0005	0.0005	0.0003	0.0003	0.0003	0.0003	0.0068	0.0002	0.0002	0.0050	0.0044	0.0001	0	0	0	0.0068	0	0	0	0.0005	0.0008	0.003	0.68238	D	0.004	0.74150	D	0.999	0.77913	D	0.98	0.74843	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	3.155	0.88459	M	0.3	0.58755	T	-7.05	0.93856	D	0.842	0.83781	-0.0751	0.80662	T	0.432	0.77355	T	10	0.04840538	0.04288	T	0.055942	0.66422	D	0.476	0.76816	.	.	0.646584788285	0.64365	0.9441175690499636	0.94393	0.45488885097	0.45167	0.555064558983	0.46571	T	0.270039	0.64228	T	0.00841507	0.52808	T	0.246276	0.85445	D	0.1950179446907	0.20136	T	0.724428	0.33821	T	0.77906984	0.82597	0.7286804	0.83969	0.77906984	0.82598	0.7286804	0.83970	-13.152	0.89979	D	.	.	0.741	0.74676	P	.	.	3.962977	0.58142	23.9	0.99628128245240832	0.75837	0.99138	0.91786	D	AEFDBHI	0.960040	0.98066	D	0.396986092978072	0.61257	4.324537	0.385393618672695	0.60664	4.25647	0.999999996888791	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.44	5.44	0.79348	7.831000	0.84922	4.155000	0.42174	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.054000	0.15518	0.0:0.0:0.0:1.0	13.446	0.60593	888	0.27761	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1089.33	36	chr2	85349530	.	T	C	1089.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.803;DP=755;ExcessHet=0;FS=1.48;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.08;ReadPosRankSum=0.185;SOR=0.866	GT:AD:DP:GQ:PL	0/1:72,48:120:99:1103,0,1819	18	0	1	0
chr2	86137530	86137530	A	G	exonic	PTCD3	.	nonsynonymous SNV	PTCD3:NM_017952:exon24:c.A2041G:p.S681G	.	439	1070	12	1	0	14	0.00649954	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	.	0.0010	0.0463259	0.0186	0.0009	0.0009	0.1684	0.0174	0.0023	0.0232	0.0298	0.0173025	2675	154602	rs2241433	0.0087	0.0087	0.0083	0.0092	0.1889	0.0086	0.0085	0.1853	0.1839	0.0004	0.0008	0	0.1889	0.0205	0.0033	0.0005	0.0164	0.0300	0.0097	0.0097	0.0077	0.0118	0.1822	0.0093	0.0091	0.1725	0.1686	0.0011	0	0.0024	0	0.1822	0.0196	0.0034	0.0009	0.0109	0.0327	0.0	0.91255	D	0.037	0.51737	D	0.734	0.42776	P	0.257	0.39298	B	0.040958	0.01885	N	1.925870	0.983851	0.24850	P	2.395	0.69210	M	1.29	0.35775	T	-1.06	0.27669	N	0.074	0.04790	-1.0935	0.04974	T	0.001	0.00222	T	9	0.0013791025	0.00015	T	.	.	.	0.158	0.41098	.	.	.	.	0.08341541099390706	0.08275	0.0489390980061	0.05346	0.392340242863	0.23999	T	0.015721	0.13134	T	-0.491515	0.00638	T	-0.334984	0.40912	T	0.0365653665484626	0.03079	T	0.486851	0.14885	T	0.20675988	0.42861	0.19804087	0.43617	0.20675988	0.42861	0.19804087	0.43616	-7.5	0.57610	T	.	.	0.091	0.13127	B	.	.	2.603636	0.33800	19.45	0.9851216936797158	0.42362	0.81921	0.41231	D	AEFDBCI	0.392853	0.47073	N	0.112457103501768	0.47043	2.935642	0.111424385791305	0.45132	2.781859	0.827433245842945	0.24632	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.38	3.23	0.36150	1.908000	0.39537	3.255000	0.37052	0.756000	0.94297	0.696000	0.28588	1.000000	0.68203	0.954000	0.50415	0.9117:0.0:0.0883:0.0	8.838	0.34280	566	0.70798	.	.	.	.	.	rs2241433	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008560	0.000000	0.000000	0.005848	0.050000	0.008621	0.009146	0.030303	0.02632	940.33	52	chr2	86137530	.	A	G	940.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.784;DP=822;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.6;ReadPosRankSum=-0.05;SOR=0.663	GT:AD:DP:GQ:PL	0/1:57,41:98:99:954,0,1576	18	0	1	0
chr2	86173668	86173668	T	C	exonic	IMMT	.	nonsynonymous SNV	IMMT:NM_001100169:exon4:c.A403G:p.T135A,IMMT:NM_001100170:exon4:c.A403G:p.T135A,IMMT:NM_006839:exon4:c.A403G:p.T135A	.	450	1065	6	1	0	8	0.00374181	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	.	0.0008	0.028754	0.0163	0.0007	0.0008	0.1133	0.0233	0.0029	0.0184	0.0336	0.0122832	1899	154602	rs59649940	0.0070	0.0069	0.0064	0.0076	0.1348	0.0069	0.0069	0.1318	0.1306	0.0004	0.0004	0	0.1348	0.0235	0.0027	0.0005	0.0089	0.0279	0.0068	0.0068	0.0050	0.0087	0.1029	0.0065	0.0063	0.0956	0.0928	0.0007	0	0.0010	0	0.1029	0.0224	0.0034	0.0010	0.0061	0.0290	0.241	0.17643	T	0.732	0.12668	T	0.0	0.07471	B	0.002	0.12133	B	0.160214	0.17687	N	0.593745	0.999985	0.19072	N	.	.	.	1.38	0.34050	T	-1.52	0.36980	N	0.039	0.03613	-1.0667	0.10154	T	0.002	0.00615	T	10	0.0013077557	0.00014	T	.	.	.	0.022	0.04323	.	.	.	.	0.21741057840740907	0.21657	0.110166838886	0.12430	0.273176163435	0.06559	T	0.008	0.34452	T	-0.634927	0.00089	T	-0.540985	0.18200	T	0.00232965904119592	0.00024	T	0.555444	0.21547	T	0.021082893	0.00693	0.024055175	0.00420	0.021082893	0.00693	0.024055175	0.00420	-2.954	0.09694	T	.	.	0.066	0.03301	B	.;.;.;.;.;.	.;.;.;.;.;.	0.428813	0.07991	4.708	0.53943993770796761	0.05039	0.08549	0.14463	N	AEFBI	0.065620	0.12808	N	-0.777285394776923	0.13904	0.6884064	-0.863034997967787	0.12974	0.6705137	0.655320876524615	0.22211	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	4.86	-0.414	0.11743	0.053000	0.14067	-0.286000	0.10231	-0.137000	0.12594	0.072000	0.22128	0.002000	0.18203	0.692000	0.33898	0.0:0.3828:0.0:0.6171	9.625	0.38912	523	0.74147	.;.;.;.;.;.	.	.	.	.	rs59649940	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009596	0.000000	0.000000	0.008772	0.050000	0.008621	0.012270	0.030303	0.02632	1007.33	45	chr2	86173668	.	T	C	1007.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.85;DP=793;ExcessHet=0;FS=1.669;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.49;ReadPosRankSum=0.724;SOR=0.883	GT:AD:DP:GQ:PL	0/1:54,42:96:99:1021,0,1314	18	0	1	0
chr2	86720791	86720791	G	C	exonic	RMND5A	.	nonsynonymous SNV	RMND5A:NM_022780:exon1:c.G124C:p.E42Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.808954452409	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs185613013	6.935e-06	1.026e-05	6.89e-06	6.981e-06	2.384e-05	3.51e-06	2.56e-06	3.96e-06	2.25e-06	0	0	0	0	0	0	7.251e-06	0	2.384e-05	6.58e-06	6.568e-06	1.286e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.103	0.30097	T	0.198	0.27767	T	0.126	0.26920	B	0.092	0.30031	B	0.000029	0.55875	D	0.000000	1	0.81001	D	1.285	0.32305	L	.	.	.	-1.28	0.32185	N	0.269	0.30461	-0.9496	0.41040	T	0.098	0.36548	T	9	0.23857495	0.40980	T	0.808954	0.98509	D	0.046	0.12618	.	.	0.082315109003	0.07666	0.33885602309105023	0.33798	1.06599822823	0.76627	0.914839625359	0.97906	D	0.029811	0.21277	T	-0.100905	0.36274	T	-0.38272	0.35404	T	0.272335201501846	0.23847	T	0.817618	0.47476	T	0.24650571	0.47620	0.11048048	0.26639	0.24650571	0.47620	0.11048048	0.26639	-4.149	0.26009	T	.	.	0.362	0.57330	A	.	.	3.631133	0.51438	23.1	0.98239530478657322	0.39467	0.51787	0.28977	D	ALL	0.554697	0.56543	D	-0.304494706449287	0.28976	1.602879	-0.160578630064189	0.33003	1.883375	0.999999316481307	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.621717	0.48901	0	.	.	4.15	3.26	0.36471	3.520000	0.53221	11.379000	0.92623	0.559000	0.28343	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0871:0.0:0.9129:0.0	11.872	0.51803	333	0.86326	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1305.33	42	chr2	86720791	.	G	C	1305.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.01;DP=906;ExcessHet=0;FS=5.91;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.02;MQRankSum=-0.249;QD=11.55;ReadPosRankSum=-2.593;SOR=0.953	GT:AD:DP:GQ:PL	0/1:63,50:113:99:1319,0,1448	18	0	1	0
chr2	94876618	94876618	C	G	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C611G:p.A204G,TEKT4:NM_144705:exon6:c.C1157G:p.A386G	.	432	224	865	0	1	866	0.658797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.223	0.00662812679854	.	.	.	.	.	.	.	.	.	.	0.0002781	43	154602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.026	0.55759	D	0.986	0.61523	D	0.919	0.65474	D	0.000066	0.52346	D	0.125962	0.999996	0.58761	D	3.695	0.94570	H	3.93	0.03435	T	-2.62	0.56301	D	0.22	0.24634	-1.1093	0.03130	T	0.045	0.19478	T	10	0.34525645	0.51502	T	0.006628	0.17501	T	0.223	0.52023	0.627	0.76254	0.325533332567	0.32158	0.46843450301837664	0.46762	0.206080854031	0.23033	0.606577515602	0.53832	T	0.278563	0.65122	T	-0.0817015	0.39437	T	-0.355135	0.38615	T	0.993828952312469	0.84790	D	0.723528	0.33695	T	0.19832417	0.41730	0.4733884	0.69475	0.19832417	0.41730	0.4733884	0.69476	-7.747	0.59334	D	.	.	0.123	0.25656	B	.	.	3.340079	0.46023	22.2	0.99465032145053101	0.65996	0.46731	0.27825	N	AEFDGBI	0.300572	0.40933	N	0.291003033652373	0.55691	3.733242	0.0724350553839575	0.43168	2.624199	0.878548229655452	0.25568	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	2.43	0.28797	3.467000	0.52842	4.098000	0.41847	0.302000	0.18967	0.053000	0.21524	0.999000	0.35428	0.607000	0.31564	0.0:1.0:0.0:0.0	10.548	0.44261	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3947	26792.8	425	chr2	94876618	.	C	G	26792.8	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-2.341;DP=5489;ExcessHet=20.8569;FS=1.497;InbreedingCoeff=-0.6522;MLEAC=15;MLEAF=0.395;MQ=57.4;MQRankSum=-17.98;QD=5.28;ReadPosRankSum=-2.883;SOR=0.85	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:261,42:303:99:0|1:94876587_C_A:978,0,10833:94876587	4	0	15	0
chr2	94876632	94876632	C	T	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C625T:p.R209C,TEKT4:NM_144705:exon6:c.C1171T:p.R391C	.	431	192	898	1	0	900	0.700935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	0.00282003103799	.	.	0.0020	0.0044	0.0012	0.0058	0	0.0016	0.0025	0.0012	0.00073	19	26028	rs72817671	5.478e-06	9.577e-06	5.451e-06	5.507e-06	7.196e-06	2.36e-06	1.7e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.196e-06	0	0	2.629e-05	2.627e-05	1.285e-05	4.036e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0	0	0	2.94e-05	0	0.0002	0.078	0.33923	T	0.094	0.39645	T	0.048	0.22112	B	0.017	0.18140	B	0.104906	0.19681	N	0.502966	0.998961	0.45775	D	2.51	0.73131	M	4.19	0.02716	T	-4.17	0.75456	D	0.327	0.36779	-0.9567	0.39789	T	0.009	0.03315	T	10	0.010076523	0.00226	T	0.00282	0.05898	T	0.180	0.45073	.	.	0.280181792013	0.27631	0.3283832477789456	0.32751	0.0418521914883	0.04503	0.566292226315	0.48154	T	0.161975	0.50645	T	-0.0952065	0.37216	T	-0.374534	0.36360	T	0.0299758459612643	0.01985	T	0.763824	0.39073	T	0.11296644	0.26684	0.099358894	0.23720	0.11296644	0.26684	0.099358894	0.23719	-7.259	0.55903	T	.	.	0.087	0.11414	B	.	.	2.884469	0.38179	20.7	0.9739629417086707	0.33750	0.03769	0.09084	N	AEFDGBI	0.024782	0.01590	N	-0.521150392773251	0.21396	1.135229	-0.512733045882346	0.21807	1.181449	3.92921537291663E-4	0.06820	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	1.05	0.19280	0.158000	0.16239	-0.300000	0.10122	0.302000	0.18967	0.046000	0.21249	0.000000	0.08366	0.706000	0.34326	0.5496:0.4504:0.0:0.0	6.095	0.19238	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.015609	0.035354	0.004076	0.005848	0.000000	0.008621	0.033537	0.018939	0.4474	37055.9	473	chr2	94876632	.	C	T	37055.9	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-5.11;DP=6526;ExcessHet=31.086;FS=0;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=57.07;MQRankSum=-18.76;QD=5.89;ReadPosRankSum=-1.429;SOR=0.593	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:283,50:333:99:0|1:94876587_C_A:1248,0,11676:94876587	2	0	17	0
chr2	94876671	94876671	A	G	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.A664G:p.I222V,TEKT4:NM_144705:exon6:c.A1210G:p.I404V	.	425	183	912	2	0	916	0.714509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.00380674609401	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs142133592	3.422e-06	3.42e-06	4.086e-06	2.751e-06	3.597e-06	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.597e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.044	0.49663	D	0.967	0.56408	D	0.77	0.56828	P	0.000003	0.62929	D	0.059094	0.999993	0.58761	D	2.465	0.71551	M	3.8	0.03781	T	-0.93	0.24898	N	0.355	0.39659	-1.1543	0.00903	T	0.035	0.15030	T	10	0.2894683	0.46528	T	0.003807	0.08899	T	0.186	0.46104	.	.	0.0716867268079	0.06686	0.38576410498893454	0.38491	0.041304716601	0.04434	0.519737362862	0.41590	T	0.070106	0.33877	T	-0.102007	0.36092	T	-0.384302	0.35219	T	0.773092746734619	0.44626	D	0.518148	0.16784	T	0.11624111	0.27419	0.19920714	0.43791	0.11624111	0.27418	0.19920714	0.43790	-6.086	0.46993	T	.	.	0.080	0.07650	B	.	.	2.197892	0.28028	17.66	0.99758744490040718	0.84851	0.77619	0.38185	D	AEFDGBI	0.245424	0.36636	N	0.178097147237031	0.50149	3.207675	0.0117110839863197	0.40257	2.399706	0.274437957628434	0.18925	0.646311	0.45356	0	0.626922	0.53725	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	2.43	0.28797	2.475000	0.44821	2.894000	0.35409	0.373000	0.20310	0.967000	0.34061	1.000000	0.68203	0.500000	0.29017	1.0:0.0:0.0:0.0	8.354	0.31480	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	43084.9	563	chr2	94876671	.	A	G	43084.9	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-7.332;DP=7395;ExcessHet=31.086;FS=1.384;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=56.94;MQRankSum=-20.34;QD=5.94;ReadPosRankSum=4.74;SOR=0.584	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:336,61:397:99:0|1:94876671_A_G:1539,0,13860:94876671	2	0	17	0
chr2	94876674	94876674	G	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.G667A:p.A223T,TEKT4:NM_144705:exon6:c.G1213A:p.A405T	.	426	179	915	2	0	919	0.719655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	.	.	0.0115815	0.0037	0.0032	0.0047	0.0156	0.0008	0.0021	0.0047	0.0045	0.0058783	153	26028	rs75603622	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.30375	T	0.267	0.22561	T	0.003	0.11197	B	0.013	0.16460	B	0.039834	0.24126	N	0.433987	0.997095	0.22793	N	3.49	0.92661	M	4.15	0.02815	T	-1.68	0.40082	N	0.141	0.14054	-0.9396	0.42679	T	0.013	0.04985	T	10	0.0041491687	0.00082	T	.	.	.	0.156	0.40720	.	.	0.117506650769	0.11410	0.2704892680538193	0.26961	0.0299475133996	0.03088	0.393358677626	0.24142	T	0.056124	0.30199	T	-0.161562	0.26520	T	-0.469849	0.25532	T	0.0468978844343634	0.04948	T	0.689731	0.29897	T	0.042698704	0.06523	0.104346365	0.25059	0.042698704	0.06523	0.104346365	0.25058	-4.749	0.33991	T	.	.	0.081	0.08129	B	.	.	1.062693	0.14447	11.02	0.91920144370954304	0.21243	0.00957	0.03676	N	AEFDGBI	0.022506	0.01133	N	-1.17567910300973	0.05369	0.2445992	-1.31751710428587	0.04204	0.1977864	0.0017749666691999	0.08872	0.646311	0.45356	0	0.626922	0.53725	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	-2.21	0.06581	0.036000	0.13706	2.580000	0.33410	-0.673000	0.04287	0.001000	0.13787	0.571000	0.25572	0.394000	0.26647	0.1368:0.0:0.6998:0.1633	6.926	0.23596	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012588	0.025253	0.002717	0.011696	0.000000	0.000000	0.021341	0.018939	0.4474	46132.9	570	chr2	94876674	.	G	A	46132.9	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-7.405;DP=7437;ExcessHet=31.086;FS=0.657;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=56.92;MQRankSum=-20.34;QD=6.34;ReadPosRankSum=4.97;SOR=0.601	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:341,61:402:99:0|1:94876671_A_G:1524,0,13993:94876671	2	0	17	0
chr2	94876731	94876731	C	T	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C724T:p.R242C,TEKT4:NM_144705:exon6:c.C1270T:p.R424C	.	422	173	925	2	0	929	0.728627	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.0041459355799	.	0.000199681	0.0026	0.0055	0.0008	0.0029	0.0009	0.0031	0.0024	0.0009	0.0016136	42	26028	rs1052809	2.266e-05	4.721e-05	2.05e-05	2.484e-05	0.0002	1.616e-05	1.421e-05	7.131e-05	5.487e-05	5.977e-05	6.711e-05	0	0	0	0.0002	9.902e-06	8.287e-05	0.0001	6.572e-06	6.567e-06	0	1.345e-05	6.545e-05	0	0	.	.	0	0	6.545e-05	0	0	0	0	0	0	0	0.103	0.30097	T	0.066	0.44501	T	0.572	0.38625	P	0.148	0.34065	B	0.002019	0.37457	N	0.261531	0.999997	0.58761	D	1.775	0.45938	L	4.11	0.02916	T	-4.13	0.75139	D	0.316	0.35620	-0.8786	0.49872	T	0.010	0.03856	T	10	0.01365149	0.00289	T	0.004146	0.09931	T	0.132	0.35948	.	.	0.491455083755	0.48780	0.5777951626377072	0.57708	0.0586537782296	0.06507	0.432330518961	0.29528	T	0.138567	0.47212	T	-0.133279	0.30966	T	-0.429223	0.30023	T	0.0535928154404934	0.06120	T	0.627737	0.24333	T	0.19040447	0.40625	0.158895	0.37084	0.19040447	0.40624	0.158895	0.37084	-4.535	0.31344	T	.	.	0.086	0.10883	B	.	.	2.921119	0.38776	20.8	0.98416532006618407	0.41234	0.09068	0.14897	N	AEFDGBI	0.064399	0.12503	N	-0.384009387342546	0.26038	1.418045	-0.456280458516489	0.23371	1.274154	0.0109668901558148	0.12109	0.646311	0.45356	0	0.844039	0.99811	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	2.43	0.28797	1.541000	0.35732	0.966000	0.23025	0.302000	0.18967	0.091000	0.22601	0.000000	0.08366	0.392000	0.26603	0.0:1.0:0.0:0.0	10.548	0.44261	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.045317	0.136364	0.005435	0.035088	0.000000	0.043103	0.076220	0.030303	0.4211	17880.0	561	chr2	94876731	.	C	T	17880.0	.	AC=16;AF=0.421;AN=38;BaseQRankSum=-2.372;DP=6867;ExcessHet=25.4433;FS=3.492;InbreedingCoeff=-0.7272;MLEAC=16;MLEAF=0.421;MQ=57.57;MQRankSum=-19.85;QD=2.71;ReadPosRankSum=-1.021;SOR=1.026	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:333,50:383:99:.:.:512,0,8779:.	3	0	16	0
chr2	95310404	95310404	C	T	exonic	KCNIP3	.	nonsynonymous SNV	KCNIP3:NM_013434:exon2:c.C65T:p.T22I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.0190335219571	.	0.000599042	7.459e-05	0	0	0.0009	0	1.506e-05	0	0	7.76e-05	12	154602	rs141559644	8.212e-05	8.209e-05	8.578e-05	7.841e-05	0.0029	7.004e-05	6.555e-05	0.0025	0.0023	0	0	0	0.0029	0	0	4.497e-06	0	0	5.253e-05	5.249e-05	3.855e-05	6.715e-05	0.0016	2.556e-05	1.829e-05	0.0008	0.0006	0	0	0	0	0.0016	0	0	0	0	0	0.25	0.21801	T	0.47	0.12246	T	0.0	0.02946	B	0.0	0.01387	B	0.551464	0.11431	N	0.764889	1	0.08975	N	0.55	0.14455	N	-0.5	0.71895	T	-0.76	0.23808	N	0.12	0.11054	-1.0194	0.23910	T	0.117	0.41275	T	10	0.011351317	0.00249	T	0.019034	0.41279	T	0.116	0.32463	.	.	0.221890330934	0.21812	0.139054246115322	0.13828	0.45287846608	0.44993	0.395358920097	0.24422	T	0.091252	0.38756	T	-0.459417	0.00991	T	-0.521852	0.20108	T	0.512008726596832	0.33072	D	0.525647	0.17278	T	0.039787427	0.05560	0.043664917	0.05483	0.039787427	0.05559	0.043664917	0.05483	-3.716	0.19555	T	.	.	0.082	0.08657	B	.;.	.;.	0.878591	0.12517	9.047	0.64327084200422924	0.07463	0.53655	0.29424	D	AEFDBI	0.066970	0.13142	N	-0.786649480907401	0.13658	0.6743836	-0.755047684821908	0.15599	0.8211805	0.100864792308449	0.16364	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.02	0.475	0.15984	0.277000	0.18496	-0.006000	0.13130	0.599000	0.40250	0.010000	0.18352	0.000000	0.08366	0.524000	0.29567	0.0:0.5316:0.1492:0.3192	5.004	0.13621	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1636.33	33	chr2	95310404	.	C	T	1636.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.187;DP=774;ExcessHet=0;FS=3.756;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.36;ReadPosRankSum=1.18;SOR=0.731	GT:AD:DP:GQ:PL	0/1:91,67:158:99:1650,0,2529	18	0	1	0
chr2	95855390	95855390	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5969G:p.N1990S	.	445	446	628	3	0	634	0.415465	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	.	.	.	0.4725	0.4791	0.4803	0.4672	0.4880	0.4733	0.4644	0.4563	0.0898263	2338	26028	rs5005871	6.166e-06	8.414e-05	8.18e-06	4.132e-06	1.162e-05	2.9e-06	2.1e-06	.	.	0	0	0	0	0.0002	0	0	0	1.162e-05	8.21e-05	0.0014	8.013e-05	8.417e-05	0.0001	4.669e-05	3.648e-05	4.891e-05	3.155e-05	0.0001	0	0.0001	0	0	0.0003	0	3.041e-05	0	0	0.015	0.52492	D	0.034	0.52727	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.56	0.13673	T	-1.08	0.28084	N	0.033	0.00882	-0.9453	0.41764	T	0.020	0.08266	T	7	0.002589792	0.00039	T	.	.	.	0.055	0.15663	.	.	.	.	0.012446412429317067	0.01203	.	.	.	.	.	0.01031	0.09320	T	-0.355653	0.04382	T	-0.748648	0.03539	T	0.0108537478151246	0.00155	T	0.411359	0.10665	T	0.03944852	0.05450	0.041137557	0.04607	0.03944852	0.05449	0.041137557	0.04607	-4.418	0.29800	T	.	.	0.294	0.52491	B	.	.	0.798647	0.11694	8.273	0.5612225942636786	0.05485	0.02449	0.06892	N	AEFI	0.055298	0.10127	N	-1.21497369849486	0.04782	0.2165626	-1.43546346583335	0.02904	0.1344849	0.00116623651718095	0.08293	0.656854	0.48797	0	0.653731	0.59785	0	0.565031	0.19037	0	0.699908	0.69081	0	.	.	2.64	-5.28	0.02543	0.547000	0.23007	-2.563000	0.03605	-0.638000	0.04459	0.451000	0.26573	0.000000	0.08366	0.008000	0.08271	0.3266:0.1273:0.3289:0.2173	0.771	0.00959	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	25429.3	297	chr2	95855390	.	T	C	25429.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=3.2;DP=4819;ExcessHet=48.2876;FS=21.823;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=55.65;MQRankSum=-11.56;QD=5.47;ReadPosRankSum=-6.798;SOR=2.121	GT:AD:DP:GQ:PL	0/1:175,47:222:99:1151,0,4916	0	0	19	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	.	.	.	.	.	.	.	.	0.3684	3255.24	342	chr2	95855406	.	C	G	3255.24	.	AC=14;AF=0.368;AN=38;BaseQRankSum=0.246;DP=5290;ExcessHet=17.0548;FS=5.715;InbreedingCoeff=-0.5833;MLEAC=14;MLEAF=0.368;MQ=53.82;MQRankSum=-6.005;QD=0.86;ReadPosRankSum=-2.675;SOR=1.39	GT:AD:DP:GQ:PL	0/1:202,36:238:99:446,0,7779	5	0	14	0
chr2	95855549	95855549	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5810G:p.N1937S	.	442	278	792	10	0	812	0.593567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	.	.	0.4955	0.4792	0.5	0.4994	0.4998	0.4950	0.4987	0.4997	0.0874443	2276	26028	rs5005869	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	6.573e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.296	0.14694	T	0.507	0.10930	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.62	0.12988	T	-0.23	0.10656	N	0.021	0.00339	-0.9299	0.44153	T	0.011	0.04088	T	7	0.0016410053	0.00020	T	.	.	.	0.027	0.05988	.	.	.	.	0.0144060030913769	0.01397	.	.	.	.	.	0.002	0.01223	T	-0.411715	0.01936	T	-0.829176	0.01277	T	0.00502627076001595	0.00054	T	0.545645	0.18668	T	0.016608926	0.00209	0.02213417	0.00245	0.016608926	0.00209	0.02213417	0.00245	-4.21	0.26896	T	.	.	0.100	0.17060	B	.	.	-0.269215	0.02755	0.369	0.23312518342213173	0.00979	0.00866	0.03436	N	AEFI	0.023348	0.01289	N	-1.09098549269488	0.06808	0.3144812	-1.2104876692623	0.05741	0.2743807	9.86009276359309E-6	0.01202	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	-0.838	0.10218	0.492000	0.22144	-6.933000	0.01270	0.312000	0.19173	0.073000	0.22155	0.000000	0.08366	0.002000	0.04165	0.0:0.3513:0.0:0.6487	6.069	0.19105	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	60963.4	298	chr2	95855549	.	T	C	60963.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-4.128;DP=6596;ExcessHet=48.2876;FS=13.468;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=44.36;MQRankSum=-12.9;QD=9.49;ReadPosRankSum=0.896;SOR=1.314	GT:AD:DP:GQ:PL	0/1:173,108:281:99:2250,0,4996	0	0	19	0
chr2	95855576	95855576	A	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.T5783C:p.I1928T	.	453	483	584	2	0	588	0.378378	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	.	.	.	0.0351	0.0714	0.0215	0.0369	0.0035	0.0411	0.0420	0.0134	0.0472952	1231	26028	rs5005868	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0002	0.0003	0.0003	8.988e-05	0	0	0	0	0	0.0004	0.0001	0	0.0001	0.0001	0.0002	8.079e-05	0.0002	8.674e-05	7.264e-05	0.0001	9.902e-05	0.0001	0	0	0	0	0	0	0.0002	0	0	0.061	0.37118	T	0.076	0.42614	T	.	.	.	.	.	.	.	.	.	.	0.999854	0.20048	N	.	.	.	2.41	0.15492	T	-2.88	0.60507	D	0.111	0.09772	-1.0255	0.21919	T	0.039	0.16634	T	7	0.0018533468	0.00025	T	.	.	.	0.016	0.02506	.	.	.	.	0.019306205368593718	0.01884	.	.	.	.	.	0.00751	0.06912	T	-0.24663	0.14515	T	-0.592043	0.13489	T	0.0121704833066968	0.00195	T	0.355564	0.08068	T	0.13378952	0.31107	0.17544822	0.40011	0.13378952	0.31107	0.17544822	0.40010	-5.456	0.41455	T	.	.	0.137	0.29914	B	.	.	2.390189	0.30693	18.52	0.99376893328488414	0.61715	0.31313	0.24306	N	AEFI	0.047864	0.08107	N	-0.41657885139222	0.24888	1.347055	-0.520845466279587	0.21587	1.168515	1.17212494177188E-4	0.05269	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	2.11	0.26299	1.107000	0.30724	-0.057000	0.12472	0.351000	0.19951	0.797000	0.29682	0.000000	0.08366	0.192000	0.21661	1.0:0.0:0.0:0.0	8.115	0.30096	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	48661.4	222	chr2	95855576	.	A	G	48661.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-3.413;DP=5637;ExcessHet=48.2876;FS=28.241;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=46.08;MQRankSum=-12.28;QD=8.91;ReadPosRankSum=-3.201;SOR=1.955	GT:AD:DP:GQ:PL	0/1:179,72:251:99:1689,0,5079	0	0	19	0
chr2	95855588	95855588	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5771G:p.Q1924R	.	449	591	480	2	0	484	0.290516	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	.	.	0.0306	0.0658	0.0188	0.0337	0.0028	0.0359	0.0324	0.0111	0.0379591	988	26028	rs5005867	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	0.22833	T	0.311	0.19660	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.4	0.15608	T	-2.4	0.52776	N	0.054	0.02559	-0.9776	0.35548	T	0.023	0.09968	T	7	0.004524857	0.00093	T	.	.	.	0.035	0.08770	.	.	.	.	0.014319341971499302	0.01388	.	.	.	.	.	0.034191	0.23222	T	-0.342862	0.05192	T	-0.730274	0.04316	T	0.0218009842485075	0.00887	T	0.374863	0.08927	T	0.052712794	0.09870	0.11261669	0.27173	0.052712794	0.09870	0.11261669	0.27172	-5.986	0.46163	T	.	.	0.14	0.30686	B	.	.	1.453026	0.18743	13.90	0.88078949201552847	0.17700	0.32438	0.24585	N	AEFI	0.045481	0.07443	N	-0.542064366665841	0.20732	1.095167	-0.636773118221108	0.18551	0.9915041	9.62839158373236E-6	0.01202	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	0.82	0.17932	2.106000	0.41459	0.119000	0.14890	-0.667000	0.04321	1.000000	0.71638	0.000000	0.08366	0.084000	0.17470	0.0:0.1714:0.2923:0.5363	2.541	0.04438	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	36166.4	226	chr2	95855588	.	T	C	36166.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-3.66;DP=5339;ExcessHet=48.2876;FS=33.512;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=47.33;MQRankSum=-11.31;QD=6.95;ReadPosRankSum=-3.814;SOR=2.254	GT:AD:DP:GQ:PL	0/1:185,52:237:99:1076,0,5458	0	0	19	0
chr2	95859895	95859895	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.A4960G:p.T1654A	.	951	467	84	20	0	124	0.117202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	.	.	0.4444	0.4790	0.4373	0.4517	0.4253	0.4197	0.4345	0.4715	0.0150223	391	26028	rs75198192	4.293e-06	9.85e-05	5.648e-06	2.901e-06	2.806e-05	1.54e-06	1.02e-06	.	.	0	2.806e-05	0	0	4.058e-05	0	0	5.178e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.35165	T	0.222	0.25748	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999981	0.18198	N	.	.	.	2.33	0.16492	T	-0.27	0.11366	N	0.03	0.00717	-0.9918	0.32141	T	0.020	0.08593	T	9	0.0021876395	0.00032	T	.	.	.	0.035	0.08770	.	.	.	.	0.004573925157677656	0.00430	.	.	0.524144649506	0.42211	T	0.007589	0.06987	T	-0.275691	0.11129	T	-0.633787	0.10130	T	0.00243692789656227	0.00025	T	0.119888	0.00926	T	0.026656736	0.01750	0.04326469	0.05342	0.026656736	0.01750	0.04326469	0.05342	-4.496	0.30836	T	.	.	0.118	0.24260	B	.	.	1.595165	0.20400	14.73	0.67616785214816144	0.08408	0.26935	0.23135	N	AEFI	0.048105	0.08173	N	-0.927352117069161	0.10206	0.4865986	-0.909991846583639	0.11858	0.6066753	7.95608252575671E-5	0.04552	0.632932	0.41330	0	0.666794	0.63253	0	0.657636	0.52715	0	0.755437	0.99637	0	.	.	1.85	1.85	0.24418	0.945000	0.28654	2.286000	0.31928	-0.387000	0.05364	0.808000	0.29825	0.078000	0.22336	0.001000	0.02609	0.0:0.0:0.0:1.0	7.648	0.27501	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3421	4805.56	85	chr2	95859895	.	T	C	4805.56	.	AC=13;AF=0.342;AN=38;BaseQRankSum=0.153;DP=1801;ExcessHet=13.8672;FS=0;InbreedingCoeff=-0.5223;MLEAC=13;MLEAF=0.342;MQ=58.06;MQRankSum=-0.944;QD=3.74;ReadPosRankSum=0.717;SOR=0.594	GT:AD:DP:GQ:PL	0/1:77,17:94:99:418,0,3157	6	0	13	0
chr2	95859969	95859969	-	T	exonic	ANKRD36C	.	frameshift insertion	ANKRD36C:NM_001310154:exon82:c.4885_4886insA:p.L1629Hfs*4	.	952	362	155	53	0	261	0.264975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4228	0.4631	0.4656	0.4778	0.3159	0.4147	0.4099	0.4349	0.0494083	1286	26028	rs111957693	5.008e-06	5.814e-05	5.648e-06	4.351e-06	.	2.08e-06	1.34e-06	.	.	0	0	0	0	0.0001	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	29493.3	133	chr2	95859969	.	A	AT	29493.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.426;DP=2924;ExcessHet=48.2876;FS=5.557;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.87;MQRankSum=-8.967;QD=10.26;ReadPosRankSum=0.47;SOR=0.821	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:106,40:146:99:0|1:95859969_A_AT:1361,0,4310:95859969	0	0	19	0
chr2	95859970	95859970	G	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.C4885A:p.L1629M	.	957	355	157	53	0	263	0.270298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	.	.	.	0.4545	0.4802	0.4743	0.4840	0.3659	0.4484	0.4515	0.4666	0.0009221	24	26028	rs77057279	9.318e-06	0.0001	7.073e-06	1.162e-05	.	5.2e-06	4.01e-06	.	.	0	0	0	0	0.0003	0	0	0	0	0	2.631e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.911	0.02361	T	0.243	0.24193	T	0.053	0.22573	B	0.021	0.19346	B	.	.	.	.	0.994063	0.23594	N	.	.	.	2.42	0.15376	T	1.44	0.00794	N	0.079	0.05414	-0.9807	0.34840	T	0.008	0.02801	T	9	0.0015536547	0.00018	T	.	.	.	0.028	0.06331	.	.	.	.	0.0034729447233706272	0.00324	.	.	0.598522663116	0.52695	T	0.002815	0.02207	T	-0.296982	0.08946	T	-0.664371	0.07975	T	0.000298728606434334	0.00002	T	0.227477	0.03026	T	0.060971648	0.12573	0.043196924	0.05321	0.060971648	0.12573	0.043196924	0.05321	-3.51	0.16572	T	.	.	0.079	0.07224	B	.	.	-0.617261	0.01525	0.098	0.057558437599456599	0.00015	0.02138	0.06301	N	AEFI	0.027961	0.02376	N	-1.81372414748207	0.00512	0.02205084	-1.77419214230889	0.00845	0.0377715	9.60209616443048E-5	0.04910	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	-3.7	0.04150	-1.387000	0.02641	-5.763000	0.01604	-0.394000	0.05329	0.245000	0.24799	0.000000	0.08366	0.008000	0.08271	0.2827:0.0:0.3453:0.372	3.712	0.07953	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	29433.3	135	chr2	95859970	.	G	T	29433.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-0.157;DP=2921;ExcessHet=48.2876;FS=5.557;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.87;MQRankSum=-9.055;QD=10.21;ReadPosRankSum=0.274;SOR=0.832	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:107,40:147:99:0|1:95859969_A_AT:1358,0,4332:95859969	0	0	19	0
chr2	95859975	95859975	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.G4880A:p.R1627Q	.	957	354	158	53	0	264	0.271605	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	.	.	.	0.4301	0.4670	0.4743	0.4733	0.3036	0.4236	0.4062	0.4476	0.00073	19	26028	rs77757712	2.22e-05	6.841e-05	2.827e-05	1.597e-05	8.413e-05	1.591e-05	1.386e-05	2.23e-05	1.218e-05	3.172e-05	8.413e-05	0	0	6.31e-05	0	1.855e-05	1.726e-05	3.789e-05	1.316e-05	1.971e-05	1.286e-05	1.348e-05	6.563e-05	2.19e-06	8.2e-07	.	.	0	0	6.563e-05	0	0	0	0	1.471e-05	0	0	0.162	0.23541	T	0.485	0.11725	T	0.055	0.22733	B	0.007	0.12992	B	.	.	.	.	0.999977	0.18612	N	.	.	.	2.42	0.15376	T	-0.1	0.08495	N	0.04	0.01347	-0.9474	0.41414	T	0.010	0.03492	T	9	0.0016048849	0.00019	T	.	.	.	0.036	0.09122	.	.	.	.	0.007547077727271438	0.00720	.	.	0.508793115616	0.40052	T	0.002443	0.01836	T	-0.329346	0.06161	T	-0.710859	0.05250	T	0.00527709899755481	0.00057	T	0.480052	0.14488	T	0.032344773	0.03241	0.03586384	0.02919	0.032344773	0.03241	0.03586384	0.02918	-4.415	0.29759	T	.	.	0.069	0.03231	B	.	.	0.983069	0.13607	10.14	0.66913885358475289	0.08199	0.01513	0.05000	N	AEFI	0.023495	0.01318	N	-1.4910599935179	0.01913	0.08394092	-1.36789013472358	0.03599	0.1682304	1.02737162787131E-5	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	0.634	0.16889	0.827000	0.27075	-0.579000	0.08386	-0.398000	0.05312	0.991000	0.37257	0.000000	0.08366	0.005000	0.06747	0.0:0.1617:0.0:0.8383	5.605	0.16657	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	29033.3	133	chr2	95859975	.	C	T	29033.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-0.208;DP=2893;ExcessHet=48.2876;FS=5.618;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.84;MQRankSum=-9;QD=10.11;ReadPosRankSum=0.168;SOR=0.908	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:109,39:148:99:0|1:95859969_A_AT:1310,0,4378:95859969	0	0	19	0
chr2	95859988	95859988	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.A4867G:p.R1623G	.	946	377	143	56	0	255	0.252725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	.	.	.	0.3985	0.4181	0.4615	0.4624	0.2601	0.3839	0.3829	0.4293	0.0005763	15	26028	rs78585559	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.44029	D	0.037	0.51737	D	0.618	0.39878	P	0.296	0.40883	B	.	.	.	.	1	0.08975	P	.	.	.	2.35	0.16217	T	-2.17	0.49018	N	0.036	0.01068	-1.0403	0.17223	T	0.022	0.09284	T	8	0.0021658242	0.00031	T	.	.	.	0.031	0.07369	.	.	.	.	0.01648333609809802	0.01603	.	.	0.464800566435	0.33968	T	0.014368	0.12243	T	-0.283116	0.10340	T	-0.644453	0.09348	T	0.0103390599998185	0.00141	T	0.690331	0.29972	T	0.11867667	0.27957	0.10622412	0.25550	0.11867667	0.27957	0.10622412	0.25549	-4.221	0.27055	T	.	.	0.167	0.36712	B	.	.	1.395340	0.18086	13.54	0.66348352263891242	0.08032	0.01091	0.04015	N	AEFI	0.037962	0.05300	N	-0.829849498643622	0.12552	0.6125249	-0.95288899799542	0.10856	0.5494909	1.69149918813486E-5	0.02871	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	1.85	0.24418	-0.401000	0.07293	-0.372000	0.09600	0.443000	0.21123	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.2013:0.0:0.7987	3.593	0.07545	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	26746.3	132	chr2	95859988	.	T	C	26746.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=0.252;DP=2861;ExcessHet=48.2876;FS=6.76;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.72;MQRankSum=-8.913;QD=9.48;ReadPosRankSum=-0.496;SOR=1.161	GT:AD:DP:GQ:PL	0/1:103,38:141:99:1286,0,2853	0	0	19	0
chr2	95860002	95860002	T	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.A4853T:p.H1618L	.	945	422	104	51	0	206	0.19619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	.	.	.	0.2918	0.3574	0.4353	0.4062	0.1258	0.3207	0.2719	0.2565	0.0003842	10	26028	rs76379993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.73	0.05165	T	0.898	0.49442	P	0.775	0.57058	P	.	.	.	.	1	0.08975	P	.	.	.	2.2	0.18570	T	-7.35	0.94620	D	0.157	0.16308	-0.9983	0.30395	T	0.066	0.27087	T	8	0.0024163425	0.00036	T	.	.	.	0.098	0.28162	.	.	.	.	0.011885642134936694	0.01148	.	.	0.603820681572	0.53443	T	0.17093	0.51885	T	-0.130986	0.31337	T	-0.425929	0.30399	T	0.0896707485037565	0.11179	T	0.667933	0.27701	T	0.5114563	0.67764	0.4059057	0.64978	0.5114563	0.67765	0.4059057	0.64978	-5.063	0.37516	T	.	.	0.223	0.45409	B	.	.	1.545032	0.19810	14.45	0.68803435199818186	0.08772	0.02181	0.06385	N	AEFI	0.047683	0.08056	N	-0.541266882709805	0.20758	1.096673	-0.816850501380551	0.14087	0.7342697	9.81280304122205E-6	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	-0.873	0.10096	1.014000	0.29553	0.760000	0.21307	0.443000	0.21123	0.026000	0.20160	0.002000	0.18203	0.026000	0.12556	0.2602:0.3442:0.0:0.3955	2.065	0.03383	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	18752.3	122	chr2	95860002	.	T	A	18752.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.06;DP=2730;ExcessHet=48.2876;FS=6.113;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.68;MQRankSum=-8.443;QD=6.95;ReadPosRankSum=-0.759;SOR=1.204	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:102,36:138:99:0|1:95860002_T_A:1205,0,4114:95860002	0	0	19	0
chr2	95860007	95860007	A	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.T4848A:p.D1616E	.	965	351	153	53	0	259	0.269511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	.	.	.	0.3716	0.3968	0.4638	0.4468	0.1996	0.3624	0.3348	0.3997	0.000461	12	26028	rs77658288	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	0.42199	D	0.887	0.03161	T	0.886	0.48745	P	0.685	0.53610	P	.	.	.	.	1	0.08975	P	.	.	.	2.36	0.16089	T	0.87	0.01688	N	0.018	0.00252	-1.0311	0.20099	T	0.037	0.16116	T	8	0.0017204583	0.00022	T	.	.	.	0.058	0.16647	0.102	0.01589	.	.	0.0016336715894167176	0.00151	.	.	0.627778291702	0.56830	T	0.00182	0.01242	T	-0.339353	0.05432	T	-0.725233	0.04547	T	0.0127801602154166	0.00217	T	0.50325	0.15827	T	0.05346143	0.10121	0.066788726	0.13731	0.05346143	0.10121	0.066788726	0.13730	-4.052	0.24579	T	.	.	0.276	0.50970	B	.	.	0.679021	0.10477	7.192	0.92075444711269228	0.21422	0.00300	0.01598	N	AEFI	0.017840	0.00496	N	-0.631580650889932	0.18000	0.9310604	-0.811362641984672	0.14221	0.7419123	9.14715249298931E-6	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	0.608	0.16746	-0.101000	0.10943	-4.154000	0.02312	0.333000	0.19617	0.036000	0.20778	0.000000	0.08366	0.028000	0.12845	0.5619:0.0:0.0:0.4381	4.768	0.12514	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	23267.3	119	chr2	95860007	.	A	T	23267.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.68;DP=2659;ExcessHet=48.2876;FS=7.204;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.65;MQRankSum=-8.406;QD=8.8;ReadPosRankSum=-1.07;SOR=1.213	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:101,34:135:99:0|1:95860002_T_A:1124,0,4098:95860002	0	0	19	0
chr2	95860020	95860020	G	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.C4835T:p.T1612I	.	975	346	149	52	0	253	0.267725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	.	.	.	0.3429	0.4093	0.4357	0.4212	0.1584	0.3445	0.2982	0.3516	0.0003842	10	26028	rs78780931	7.168e-07	5.473e-06	1.415e-06	0	9.285e-07	0	0	.	.	0	0	0	0	0	0	9.285e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999979	0.18612	P	.	.	.	2.38	0.15843	T	3.02	0.00138	N	0.054	0.02559	-0.9370	0.43088	T	0.010	0.03627	T	8	0.0017494261	0.00022	T	.	.	.	0.071	0.20720	.	.	.	.	0.0033875092255602627	0.00316	.	.	0.597990691662	0.52621	T	2.31E-4	0.00048	T	-0.282657	0.10387	T	-0.643793	0.09394	T	0.00465201252591891	0.00050	T	0.257674	0.04066	T	0.036191136	0.04406	0.044979855	0.05950	0.036191136	0.04405	0.044979855	0.05949	-0.577	0.00632	T	.	.	0.124	0.26042	B	.	.	0.379084	0.07510	4.156	0.096937678722497284	0.00105	0.00352	0.01813	N	AEFI	0.013252	0.00170	N	-1.41969246255212	0.02466	0.1089284	-1.29164163050699	0.04543	0.2145151	1.02751695127801E-5	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	0.635	0.16895	2.080000	0.41211	-0.435000	0.09196	-1.105000	0.01501	0.995000	0.38783	0.000000	0.08366	0.000000	0.00833	0.8383:0.0:0.1617:0.0	5.605	0.16657	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	20158.3	113	chr2	95860020	.	G	A	20158.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=0.619;DP=2471;ExcessHet=48.2876;FS=6.268;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.59;MQRankSum=-8.166;QD=8.31;ReadPosRankSum=-1.454;SOR=1.226	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:97,31:128:99:0|1:95860020_G_A:1010,0,3919:95860020	0	0	19	0
chr2	95860023	95860023	A	C	exonic	ANKRD36C	.	stopgain	ANKRD36C:NM_001310154:exon82:c.T4832G:p.L1611X	.	975	348	147	52	0	251	0.265048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3459	0.4102	0.4378	0.4239	0.1587	0.3478	0.2957	0.3558	0.0004226	11	26028	rs74941794	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.64576e-15	0.58761	P	.	.	.	.	.	.	.	.	.	0.039	0.01274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.464733	0.93127	D	0.429781	0.93041	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	5.440231	0.90928	32	0.96148246009950666	0.28859	0.36954	0.25651	N	AEFI	0.088588	0.17958	N	-0.131946649004641	0.36007	2.075519	-0.471627380579264	0.22940	1.248476	9.52799824835323E-6	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	-0.698	0.10713	0.445000	0.21392	-0.434000	0.09203	-1.250000	0.01303	0.993000	0.37899	0.000000	0.08366	0.002000	0.04165	0.6458:0.0:0.3542:0.0	5.748	0.17400	256	0.89942	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	19380.3	111	chr2	95860023	.	A	C	19380.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.39;DP=2404;ExcessHet=48.2876;FS=7.636;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.56;MQRankSum=-8.267;QD=8.09;ReadPosRankSum=-1.399;SOR=1.289	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:97,31:128:99:0|1:95860020_G_A:1010,0,3919:95860020	0	0	19	0
chr2	95860046	95860046	C	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.G4809T:p.K1603N	.	996	348	132	46	0	224	0.243478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	.	.	0.2995	0.4068	0.4155	0.3993	0.0859	0.3214	0.2411	0.2818	0.0869064	2262	26028	rs79908880	2.159e-06	4.789e-06	1.421e-06	2.916e-06	3.19e-05	5.8e-07	1.6e-07	3.1e-07	1.2e-07	3.19e-05	0	0	0	0	0	1.863e-06	0	0	1.972e-05	1.97e-05	2.57e-05	1.346e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0	0	0	2.94e-05	0	0	0.767	0.03412	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	P	.	.	.	2.33	0.16492	T	1.87	0.00472	N	0.043	0.01577	-0.9644	0.38330	T	0.008	0.02842	T	8	0.0017981231	0.00024	T	.	.	.	0.027	0.05988	0.388	0.40951	.	.	0.009782736317217211	0.00940	.	.	0.538346886635	0.44213	T	0.002324	0.01720	T	-0.380822	0.03079	T	-0.784801	0.02311	T	0.00124196999210505	0.00012	T	0.263374	0.04265	T	0.04313465	0.06669	0.036235157	0.03030	0.04313465	0.06669	0.036235157	0.03030	-0.766	0.00774	T	.	.	0.068	0.02639	B	.	.	-0.084979	0.03731	0.770	0.10447506845337422	0.00132	0.00336	0.01748	N	AEFI	0.012014	0.00120	N	-2.28437407882715	0.00049	0.002118662	-2.21407410585182	0.00104	0.004576006	2.08611004689468E-5	0.02871	0.632932	0.41330	0	0.666794	0.63253	0	0.657636	0.52715	0	0.755437	0.99637	0	.	.	1.85	-2.51	0.05996	1.202000	0.31878	0.062000	0.14145	-1.184000	0.01383	0.735000	0.28974	0.000000	0.08366	0.000000	0.00833	0.4851:0.195:0.1314:0.1885	0.839	0.01073	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	11904.3	89	chr2	95860046	.	C	A	11904.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=0.751;DP=1934;ExcessHet=48.2876;FS=11.691;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.24;MQRankSum=-9.124;QD=6.3;ReadPosRankSum=-0.315;SOR=1.619	GT:AD:DP:GQ:PL	0/1:76,21:97:99:654,0,2121	0	0	19	0
chr2	95927222	95927222	-	AT	exonic	ANKRD36C	.	frameshift insertion	ANKRD36C:NM_001310154:exon28:c.1930_1931insAT:p.S644Yfs*24	.	585	748	183	6	0	195	0.115316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0015	0.0011	0.0019	0.0005	0.0013	0	0.0007	0.0009605	25	26028	rs745741068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	18862.3	164	chr2	95927222	.	G	GAT	18862.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=2.6;DP=3163;ExcessHet=48.2876;FS=34.38;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=54.61;MQRankSum=-10.17;QD=6.03;ReadPosRankSum=-5.284;SOR=3.306	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:153,29:182:99:0|1:95927222_G_GAT:757,0,6337:95927222	0	0	19	0
chr2	95927227	95927228	TT	-	exonic	ANKRD36C	.	frameshift deletion	ANKRD36C:NM_001310154:exon28:c.1925_1926del:p.Q642Pfs*18	.	630	694	193	5	0	203	0.127593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0015	0.0011	0.0019	0.0005	0.0013	0	0.0007	0.0009605	25	26028	rs772059065	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	26377.3	184	chr2	95927226	.	GTT	G	26377.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=2.39;DP=3487;ExcessHet=48.2876;FS=11.32;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=54.52;MQRankSum=-10.76;QD=7.59;ReadPosRankSum=-5.284;SOR=1.618	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:161,39:200:99:0|1:95927222_G_GAT:1153,0,6643:95927222	0	0	19	0
chr2	95927234	95927234	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.A1919G:p.E640G	.	638	673	206	5	0	216	0.138284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.00618498349042	.	.	0.0012	0.0016	0.0011	0.0019	0.0005	0.0013	0	0.0007	3.84e-05	1	26028	rs758839836	6.856e-07	6.84e-07	1.364e-06	0	9.007e-07	0	0	.	.	0	0	0	0	0	0	9.007e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.114	0.36765	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.11	0.77466	T	-0.39	0.13611	N	0.176	0.18920	-0.5261	0.67688	T	0.427	0.77022	T	6	0.03557104	0.01812	T	0.006185	0.16200	T	0.149	0.39377	.	.	0.42989457901	0.42608	0.007308549639332476	0.00696	.	.	.	.	.	0.003258	0.02667	T	-0.0875605	0.38480	T	-0.363551	0.37640	T	0.0366356248361039	0.03091	T	0.168983	0.05631	T	0.062684655	0.13118	0.16541363	0.38267	0.062684655	0.13117	0.16541363	0.38267	-4.184	0.26519	T	.	.	0.130	0.27998	B	.;.	.;.	2.279132	0.29141	18.03	0.9497533031407277	0.25908	0.01715	0.05438	N	AEFBI	0.033788	0.04074	N	-0.603271583609637	0.18846	0.9816864	-0.856632057968517	0.13128	0.6793434	1.06943366512053E-5	0.01202	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	0.578	0.16575	1.624000	0.36629	-0.363000	0.09661	0.319000	0.19345	0.008000	0.17931	0.000000	0.08366	0.003000	0.05239	.	.	.	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	35910.4	215	chr2	95927234	.	T	C	35910.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.871;DP=3849;ExcessHet=48.2876;FS=7.304;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=54.28;MQRankSum=-11.77;QD=9.36;ReadPosRankSum=-6.004;SOR=1.205	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:171,50:221:99:0|1:95927222_G_GAT:1585,0,7030:95927222	0	0	19	0
chr2	95927252	95927252	A	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.T1901C:p.I634T	.	674	623	216	9	0	234	0.158108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	.	.	.	0.0825	0.1113	0.0839	0.1182	0.1114	0.0793	0.0608	0.0544	3.84e-05	1	26028	rs111976783	2.057e-06	2.052e-06	2.729e-06	1.378e-06	6.728e-05	5.5e-07	1.5e-07	1.784e-05	8.95e-06	0	6.728e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.27194	T	0.194	0.28120	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.08	0.77078	T	-0.99	0.26200	N	0.069	0.17278	-0.8026	0.54991	T	0.326	0.69410	T	6	0.0039491355	0.00076	T	.	.	.	0.194	0.47447	.	.	.	.	0.0049901546743311475	0.00471	.	.	.	.	.	0.003965	0.03373	T	-0.0895306	0.38154	T	-0.366381	0.37311	T	0.00782888568937778	0.00092	T	0.441356	0.12522	T	0.056561366	0.11145	0.12979923	0.31201	0.056561366	0.11144	0.12979923	0.31200	-5.925	0.50163	T	.	.	0.180	0.48715	B	.;.	.;.	1.251398	0.16483	12.57	0.92565402419728915	0.22018	0.00377	0.01912	N	AEFBI	0.031745	0.03455	N	-0.892394221719867	0.11022	0.5297326	-1.14952198102138	0.06776	0.3273419	1.22801436175958E-5	0.02871	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	-1.16	0.09181	0.550000	0.23052	-1.428000	0.05463	0.359000	0.20063	0.011000	0.18532	0.000000	0.08366	0.036000	0.13842	.	.	.	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	63959.4	272	chr2	95927252	.	A	G	63959.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.312;DP=4936;ExcessHet=48.2876;FS=0;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=53.51;MQRankSum=-14.02;QD=13;ReadPosRankSum=-5.496;SOR=0.719	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:190,80:270:99:0|1:95927222_G_GAT:2787,0,7737:95927222	0	0	19	0
chr2	95927268	95927268	C	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.G1885T:p.D629Y	.	676	613	224	9	0	242	0.16485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.333	.	.	.	0.0990	0.1443	0.0896	0.1297	0.1231	0.0957	0.0823	0.0698	0.0779227	12047	154602	rs79307257	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.596e-06	6.571e-06	0	1.351e-05	1.477e-05	0	0	.	.	0	0	0	0	0	0	0	1.477e-05	0	0	0.001	0.78490	D	0.026	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.1	0.77336	T	-1.9	0.44284	N	0.173	0.51315	-0.4874	0.69100	T	0.446	0.78240	T	6	0.0048143566	0.00102	T	.	.	.	0.333	0.65522	.	.	.	.	0.012629181598714094	0.01221	.	.	.	.	.	0.007056	0.06479	T	-0.00641558	0.50765	T	-0.246992	0.50114	T	0.852545201778412	0.50387	D	0.59994	0.27277	T	0.11685397	0.27556	0.18900135	0.42222	0.11685397	0.27555	0.18900135	0.42221	-8.156	0.62848	D	.	.	0.178	0.50389	B	.;.	.;.	2.735108	0.35810	20.0	0.94629422228171811	0.25216	0.01477	0.04919	N	AEFBI	0.029319	0.02744	N	-0.591855003156469	0.19190	1.00245	-0.847697327138236	0.13343	0.6916549	1.13024900829832E-5	0.02871	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	0.578	0.16575	0.534000	0.22807	0.568000	0.19578	0.291000	0.18778	0.021000	0.19753	0.000000	0.08366	0.005000	0.06747	.	.	.	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	87835.4	322	chr2	95927268	.	C	A	87835.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-5.958;DP=5895;ExcessHet=48.2876;FS=3.314;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=52.8;MQRankSum=-15.82;QD=14.94;ReadPosRankSum=-3.622;SOR=0.489	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:207,117:324:99:0|1:95927222_G_GAT:4229,0,8336:95927222	0	0	19	0
chr2	95927277	95927277	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.G1876A:p.D626N	.	672	616	225	9	0	243	0.164746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	.	.	.	0.0982	0.1425	0.0884	0.1290	0.1219	0.0951	0.0815	0.0693	0.0779679	12054	154602	rs75189823	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.023	0.57104	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	-1.07	0.76948	T	-0.32	0.12283	N	0.045	0.10626	-0.0304	0.81622	T	0.463	0.79190	T	5	0.0036658943	0.00067	T	.	.	.	0.172	0.43662	.	.	.	.	0.0029834670744068	0.00278	.	.	.	.	.	0.001745	0.01167	T	-0.214699	0.18721	T	-0.546177	0.17695	T	0.0182863330978625	0.00547	T	0.726827	0.34112	T	0.056939475	0.11268	0.071558535	0.15336	0.056939475	0.11268	0.071558535	0.15336	-7.104	0.55237	T	.	.	0.131	0.35560	B	.;.	.;.	2.171628	0.27671	17.54	0.99663125085786775	0.78074	0.02072	0.06171	N	AEFBI	0.036161	0.04774	N	-0.595262529696858	0.19088	0.996275	-0.85090525598683	0.13266	0.6872205	1.13024900829832E-5	0.02871	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	0.578	0.16575	0.528000	0.22711	-1.180000	0.06099	0.291000	0.18778	0.002000	0.15269	0.000000	0.08366	0.003000	0.05239	.	.	.	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	89248.4	328	chr2	95927277	.	C	T	89248.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-6.782;DP=6158;ExcessHet=48.2876;FS=4.127;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=52.73;MQRankSum=-16.01;QD=14.73;ReadPosRankSum=-1.494;SOR=0.465	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:217,123:340:99:0|1:95927222_G_GAT:4370,0,8610:95927222	0	0	19	0
chr2	95929092	95929092	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.A1817G:p.E606G	.	442	885	194	1	0	196	0.0996948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	.	.	.	0.0459	0.0589	0.0223	0.0330	0.0459	0.0434	0.0437	0.0722	0.0179806	468	26028	rs76434426	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.12	0.48855	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	-1.41	0.80560	T	-0.78	0.21644	N	0.056	0.10626	-0.3240	0.74310	T	0.401	0.75223	T	5	0.0049548745	0.00106	T	.	.	.	0.197	0.47942	.	.	.	.	0.0054717690626164255	0.00517	.	.	.	.	.	0.005311	0.04761	T	-0.0584766	0.43144	T	-0.321774	0.42379	T	0.00563426744630397	0.00061	T	0.377662	0.09460	T	0.056738406	0.11204	0.0661094	0.13496	0.056738406	0.11203	0.0661094	0.13496	-3.88	0.22002	T	.	.	0.122	0.31279	B	.;.	.;.	2.425270	0.31191	18.67	0.9961510765788425	0.75052	0.01924	0.05874	N	AEFI	0.033909	0.04109	N	-0.600821869982756	0.18921	0.9861679	-0.827596025984616	0.13828	0.7194133	1.26041081260552E-5	0.02871	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	0.871	0.18244	1.761000	0.38070	0.132000	0.15059	0.312000	0.19173	0.010000	0.18352	0.001000	0.17328	0.012000	0.09680	0.0:0.0:0.0:1.0	3.983	0.08994	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	39801.4	216	chr2	95929092	.	T	C	39801.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=0.974;DP=3809;ExcessHet=48.2876;FS=9.792;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=47.28;MQRankSum=-9.617;QD=10.54;ReadPosRankSum=-3.918;SOR=1.353	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:129,57:186:99:0|1:95929092_T_C:1990,0,5129:95929092	0	0	19	0
chr2	95929110	95929110	A	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.T1799C:p.I600T	.	444	879	199	0	0	199	0.101686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.230	.	.	.	0.0502	0.0563	0.0250	0.0339	0.0515	0.0474	0.0455	0.0855	0.0009221	24	26028	rs80159651	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.38185	T	0.013	0.63109	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.17	0.78199	T	-0.21	0.10308	N	0.064	0.13911	-0.7459	0.58149	T	0.297	0.66886	T	6	0.0053180456	0.00117	T	.	.	.	0.230	0.53062	.	.	.	.	0.00358464158390252	0.00335	.	.	.	.	.	5.76E-4	0.00232	T	-0.102964	0.35934	T	-0.385677	0.35058	T	0.00148509498065692	0.00015	T	0.430857	0.15541	T	0.03336381	0.03541	0.041758195	0.04819	0.03336381	0.03540	0.041758195	0.04819	-5.849	0.49914	T	.	.	0.141	0.47448	B	.;.	.;.	1.598186	0.20432	14.75	0.94716897870735495	0.25385	0.00401	0.02002	N	AEFI	0.028900	0.02629	N	-0.753193177697584	0.14546	0.7255317	-1.00196959350196	0.09742	0.4864572	9.46784315172941E-6	0.01202	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	-0.637	0.10926	0.215000	0.17352	-1.249000	0.05911	0.351000	0.19951	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	0.4587:0.0:0.0:0.5413	2.815	0.05119	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	49331.4	246	chr2	95929110	.	A	G	49331.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=8.94;DP=4414;ExcessHet=48.2876;FS=9.734;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=45.28;MQRankSum=-9.563;QD=11.19;ReadPosRankSum=-2.139;SOR=1.456	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:140,70:210:99:0|1:95929092_T_C:2518,0,5648:95929092	0	0	19	0
chr2	95929126	95929126	C	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.G1783T:p.D595Y	.	442	865	215	0	0	215	0.11054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.242	.	.	.	0.0287	0.0327	0.0149	0.0205	0.0260	0.0277	0.0293	0.0461	0.0009221	24	26028	rs79434735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.005	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.96	0.75553	T	-1.05	0.27463	N	0.094	0.37717	-0.7052	0.60188	T	0.302	0.67344	T	6	0.007255286	0.00165	T	.	.	.	0.242	0.54781	.	.	.	.	0.01955586045237903	0.01909	.	.	.	.	.	0.003986	0.03393	T	-0.0187037	0.49039	T	-0.264643	0.48358	T	0.00831936897839858	0.00100	T	0.876612	0.58915	D	0.08026257	0.18380	0.06422837	0.12840	0.08026257	0.18380	0.06422837	0.12840	-7.935	0.60626	D	.	.	0.193	0.50147	B	.;.	.;.	1.372804	0.17831	13.39	0.93504610952685097	0.23313	0.02178	0.06379	N	AEFI	0.025243	0.01698	N	-0.59865468081622	0.18985	0.9901359	-0.821302082525131	0.13979	0.7281023	1.38702267383256E-5	0.02871	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	0.871	0.18244	-0.066000	0.11556	0.673000	0.20610	0.284000	0.18682	0.001000	0.13787	0.001000	0.17328	0.010000	0.09038	0.0:1.0:0.0:0.0	5.051	0.13847	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	66098.4	287	chr2	95929126	.	C	A	66098.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=3.33;DP=5158;ExcessHet=48.2876;FS=18.99;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=44.08;MQRankSum=-9.946;QD=12.83;ReadPosRankSum=-1.47;SOR=1.817	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:153,92:245:99:0|1:95929092_T_C:3403,0,6148:95929092	0	0	19	0
chr2	95929130	95929130	G	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.C1779G:p.D593E	.	442	863	217	0	0	217	0.111683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	.	.	.	0.0281	0.0314	0.0152	0.0199	0.0259	0.0271	0.0289	0.0443	0.0009221	24	26028	rs375866621	5.512e-06	6.156e-06	6.857e-06	4.153e-06	7.204e-06	2.37e-06	1.71e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.204e-06	0	0	6.603e-06	6.573e-06	1.29e-05	0	1.478e-05	0	0	.	.	0	0	0	0	0	0	0	1.478e-05	0	0	1.0	0.00964	T	0.215	0.26306	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.99	0.75911	T	-0.17	0.09627	N	0.012	0.01274	-0.9830	0.34305	T	0.120	0.41886	T	6	0.0062747	0.00142	T	.	.	.	0.082	0.23913	0.088	0.00943	.	.	0.0012585486106362017	0.00115	.	.	.	.	.	6.61E-4	0.00291	T	-0.22299	0.17588	T	-0.558086	0.16556	T	0.0056942431256175	0.00062	T	0.361264	0.08382	T	0.030476715	0.02717	0.028199261	0.01033	0.030476715	0.02717	0.028199261	0.01033	1.103	0.00153	T	.	.	0.184	0.39898	B	.;.	.;.	-0.102250	0.03628	0.719	0.82362292130898662	0.14152	0.00009	0.00143	N	AEFI	0.011962	0.00118	N	-1.12759496650573	0.06156	0.2826552	-1.32800364383948	0.04072	0.1913117	8.82048009805059E-6	0.01202	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	-0.0539	0.13146	0.175000	0.16577	-0.796000	0.07394	-0.724000	0.03774	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.5966:0.4034:0.0	4.774	0.12542	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	71010.4	295	chr2	95929130	.	G	C	71010.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=6.88;DP=5365;ExcessHet=48.2876;FS=20.95;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=43.69;MQRankSum=-9.89;QD=13.27;ReadPosRankSum=-1.093;SOR=1.897	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:152,98:250:99:0|1:95929092_T_C:3657,0,6087:95929092	0	0	19	0
chr2	95929135	95929135	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.G1774A:p.D592N	.	440	860	222	0	0	222	0.114315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	.	.	.	0.0258	0.0286	0.0139	0.0184	0.0245	0.0251	0.0266	0.0399	0.0009221	24	26028	rs111462973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.31	0.26306	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.0	0.76037	T	-0.29	0.11728	N	0.04	0.12341	-0.9745	0.36235	T	0.178	0.52334	T	6	0.0032269955	0.00055	T	.	.	.	0.061	0.17616	.	.	.	.	0.004280505726367948	0.00402	.	.	.	.	.	0.002625	0.02014	T	-0.209791	0.19408	T	-0.539127	0.18382	T	0.0104211887073546	0.00143	T	0.69513	0.30474	T	0.054424945	0.10441	0.04548125	0.06130	0.054424945	0.10440	0.04548125	0.06129	-6.736	0.52081	T	.	.	0.134	0.35352	B	.;.	.;.	2.140902	0.27259	17.40	0.99632098778018607	0.76081	0.00615	0.02724	N	AEFI	0.027355	0.02221	N	-0.807133128301253	0.13128	0.6445496	-1.03707422889346	0.08978	0.4441984	8.83579175512005E-6	0.01202	0.651	0.46895	0	0.653731	0.59785	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	-0.0868	0.13014	0.656000	0.24632	0.771000	0.21396	0.284000	0.18682	0.006000	0.17386	0.005000	0.19230	0.009000	0.08673	0.0:0.6672:0.0:0.3328	3.151	0.06100	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	74075.4	304	chr2	95929135	.	C	T	74075.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=6.95;DP=5621;ExcessHet=48.2876;FS=22.763;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=43.18;MQRankSum=-9.69;QD=13.51;ReadPosRankSum=-1.078;SOR=1.932	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:150,99:249:99:0|1:95929092_T_C:3692,0,5991:95929092	0	0	19	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4474	9025.83	153	chr2	97185336	.	GC	G	9025.83	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-1.382;DP=2743;ExcessHet=31.086;FS=1.658;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=47.08;MQRankSum=-6.249;QD=3.62;ReadPosRankSum=0.503;SOR=0.504	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:135,16:151:99:0|1:97185336_GC_G:266,0,5600:97185336	2	0	17	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	.	.	.	.	.	.	.	.	0.4474	8913.86	155	chr2	97185340	.	C	G	8913.86	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-1.075;DP=2782;ExcessHet=31.086;FS=1.696;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=46.92;MQRankSum=-5.789;QD=3.53;ReadPosRankSum=0.964;SOR=0.511	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:136,16:152:99:0|1:97185336_GC_G:262,0,5642:97185336	2	0	17	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4474	8891.83	152	chr2	97185341	.	A	AG	8891.83	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-1.346;DP=2792;ExcessHet=31.086;FS=1.696;InbreedingCoeff=-0.8096;MLEAC=17;MLEAF=0.447;MQ=46.81;MQRankSum=-5.722;QD=3.51;ReadPosRankSum=1.18;SOR=0.517	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:135,16:151:99:0|1:97185336_GC_G:265,0,5620:97185336	2	0	17	0
chr2	97185346	97185349	TAAT	-	splicing	ANKRD36	.	.	.	.	500	739	281	2	0	285	0.161656	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1368364794	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4474	8743.83	157	chr2	97185345	.	GTAAT	G	8743.83	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-1.208;DP=2918;ExcessHet=31.086;FS=1.743;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=46.15;MQRankSum=-5.332;QD=3.29;ReadPosRankSum=2.28;SOR=0.508	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:144,16:160:99:0|1:97185336_GC_G:238,0,5998:97185336	2	0	17	0
chr2	97513220	97513220	G	A	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.C2765T:p.A922V	.	613	640	247	22	0	291	0.185232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0963	0.0850	0.0216	0.0100	0.3296	0.0294	0.1310	0.0097	0.0001921	5	26028	rs80135902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	0.01	0.15535	B	0.002	0.06944	B	.	.	.	.	.	.	.	0	0.06538	N	.	.	.	.	.	.	0.031	0.15888	.	.	.	.	.	.	.	0.0024380386	0.00036	T	.	.	.	.	.	.	.	.	.	0.0030564260149934064	0.00284	.	.	0.613379478455	0.54794	T	0.007581	0.06977	T	-0.0927998	0.37613	T	-0.371077	0.36763	T	.	.	.	0.352565	0.07917	T	0.017845605	0.00308	0.067346	0.13920	0.017845605	0.00308	0.067346	0.13919	-1.943	0.02973	T	.	.	0.108	0.23709	B	.;.;.	.;.;.	0.756607	0.11265	7.891	0.24358559582250291	0.01073	0.00023	0.00238	N	AEFI	.	.	.	.	.	.	.	.	.	1.16123222590643E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.223356	0.04673	0	0.0495094	0.09020	1.25	-0.477	0.11493	0.374000	0.20232	-0.021000	0.12925	-0.716000	0.03877	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.7908:0.0:0.2092:0.0	4.611	0.11791	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.242358	0.041667	0.256579	0.288889	0.375000	0.340426	0.247788	0.262376	0.5263	64897.0	159	chr2	97513220	.	G	A	64897.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-0.096;DP=3961;ExcessHet=38.2876;FS=4.24;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=36.14;MQRankSum=-3.677;QD=16.4;ReadPosRankSum=0.819;SOR=1.012	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:141,86:227:99:0|1:97513219_T_C:3187,0,5662:97513219	0	1	18	0
chr2	97513227	97513227	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2758G:p.K920E	.	611	640	249	22	0	293	0.186268	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0214	0.0529	0.0036	0	0.0702	0.0066	0.0682	0.0028	3.84e-05	1	26028	rs79390266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.05707	T	0.544	0.37968	P	0.044	0.24394	B	.	.	.	.	.	.	.	1.445	0.36358	L	.	.	.	.	.	.	0.12	0.33250	.	.	.	.	.	.	.	0.0055945516	0.00124	T	.	.	.	.	.	.	.	0.168933306366	0.16529	0.003989330973675759	0.00373	.	.	0.735671639442	0.72336	T	0.033889	0.23100	T	-0.112291	0.34391	T	-0.399074	0.33492	T	.	.	.	0.369363	0.08678	T	0.05957855	0.12126	0.07929396	0.17837	0.05957855	0.12126	0.07929396	0.17837	-5.258	0.39526	T	.	.	0.142	0.33086	B	.;.;.	.;.;.	1.364301	0.17734	13.34	0.46228864402172176	0.03687	0.02246	0.06510	N	AEFI	.	.	.	.	.	.	.	.	.	4.68263816856013E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.223356	0.04673	0	0.103977	0.22772	1.25	1.25	0.20475	-0.034000	0.12176	-6.769000	0.01311	0.334000	0.19664	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.0:0.0:1.0	6.615	0.21965	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.049467	0.010417	0.061189	0.058140	0.000000	0.104651	0.038462	0.040000	0.5263	68935.0	164	chr2	97513227	.	T	C	68935.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=0.29;DP=4239;ExcessHet=38.2876;FS=3.338;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=36.44;MQRankSum=-4.04;QD=16.5;ReadPosRankSum=0.983;SOR=0.999	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:149,95:244:99:0|1:97513219_T_C:3532,0,5945:97513219	0	1	18	0
chr2	97513244	97513244	G	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.C2741A:p.P914Q	.	595	624	272	31	0	334	0.211125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023	0.0143	0	0	0	0.0016	0	0	3.84e-05	1	26028	rs79527710	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.569	0.10391	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	.	.	.	-1.445	0.00556	N	.	.	.	.	.	.	0.188	0.27435	.	.	.	.	.	.	.	0.0063654184	0.00144	T	.	.	.	.	.	.	.	0.320256813643	0.31633	0.004245720093313631	0.00398	.	.	0.703683018684	0.67677	T	0.006209	0.05647	T	-0.125373	0.32247	T	-0.417866	0.31321	T	.	.	.	0.315568	0.06252	T	0.023773897	0.01146	0.07268516	0.15708	0.023773897	0.01146	0.07268516	0.15708	0.674	0.00180	T	.	.	0.102	0.17827	B	.;.;.	.;.;.	-0.119120	0.03530	0.672	0.19522481671669692	0.00662	0.00471	0.02257	N	AEFI	.	.	.	.	.	.	.	.	.	1.11447686844719E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0495094	0.09020	1.25	-0.0318	0.13235	0.839000	0.27239	1.716000	0.28228	-0.610000	0.04588	0.997000	0.40164	0.949000	0.28973	0.001000	0.02609	0.2806:0.0:0.2874:0.432	2.311	0.03930	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5263	84738.0	186	chr2	97513244	.	G	T	84738.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-0.875;DP=4777;ExcessHet=38.2876;FS=3.221;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=36.9;MQRankSum=-3.997;QD=17.8;ReadPosRankSum=0.056;SOR=0.933	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:153,122:275:99:0|1:97513244_G_T:4662,0,5995:97513244	0	1	18	0
chr2	97513253	97513253	A	G	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.T2732C:p.V911A	.	594	617	279	32	0	343	0.217502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0083	0	0	0	0.0008	0	0	3.84e-05	1	26028	rs80295552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.424	0.23914	T	0.008	0.14655	B	0.002	0.06944	B	.	.	.	.	.	.	.	0.69	0.16971	N	.	.	.	.	.	.	0.109	0.12627	.	.	.	.	.	.	.	0.00813821	0.00185	T	.	.	.	.	.	.	.	0.216624796971	0.21254	0.003043674037080383	0.00283	.	.	0.697517633438	0.66786	T	0.028597	0.20678	T	-0.148518	0.28543	T	-0.451112	0.27575	T	.	.	.	0.321068	0.06505	T	0.015220522	0.00128	0.050442122	0.07918	0.015220522	0.00128	0.050442122	0.07917	-2.994	0.10116	T	.	.	0.23	0.46273	B	.;.;.	.;.;.	0.168625	0.05582	2.036	0.46468697738120324	0.03724	0.00493	0.02333	N	AEFI	.	.	.	.	.	.	.	.	.	1.09581247054722E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0502799	0.09584	1.25	0.037	0.13512	-0.176000	0.09802	-1.469000	0.05369	-0.632000	0.04510	0.008000	0.17931	0.000000	0.08366	0.002000	0.04165	0.5217:0.0:0.4783:0.0	4.080	0.09400	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000639	0.000000	0.002857	0.004630	0.000000	0.000000	0.000000	0.000000	0.5263	90004.0	197	chr2	97513253	.	A	G	90004.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-2.442;DP=4968;ExcessHet=38.2876;FS=3.203;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=36.95;MQRankSum=-3.978;QD=18.26;ReadPosRankSum=-0.22;SOR=0.922	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:152,132:284:99:0|1:97513244_G_T:5085,0,5980:97513244	0	1	18	0
chr2	97513254	97513254	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2731A:p.V911M	.	594	616	280	32	0	344	0.218274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0076	0	0	0	0.0011	0	0	7.68e-05	2	26028	rs74341509	0.0001	0.0001	0.0001	0.0002	0.0002	0.0001	0.0001	0.0002	0.0001	0	0	0	0	0	0	0.0002	0.0002	0	8.256e-05	9.122e-05	7.317e-05	9.244e-05	0.0002	4.621e-05	3.529e-05	9.276e-05	7.178e-05	0	0	0	0	0	0	0	0.0002	0	0	.	.	.	0.098	0.39040	T	0.053	0.22573	B	0.004	0.10090	B	.	.	.	.	.	.	.	0.345	0.11182	N	.	.	.	.	.	.	0.115	0.14480	.	.	.	.	.	.	.	0.008039981	0.00183	T	.	.	.	.	.	.	.	0.201204373187	0.19734	0.004376723944163083	0.00411	.	.	0.681571960449	0.64493	T	0.010384	0.09385	T	-0.177895	0.24050	T	-0.493311	0.23044	T	.	.	.	0.538946	0.18179	T	0.01859633	0.00382	0.05722728	0.10366	0.01859633	0.00382	0.05722728	0.10366	-3.253	0.13139	T	.	.	0.167	0.37746	B	.;.;.	.;.;.	0.527632	0.08965	5.745	0.40177876468154022	0.02819	0.00378	0.01916	N	AEFI	.	.	.	.	.	.	.	.	.	1.15642168101809E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0502799	0.09584	1.25	-0.662	0.10840	-0.590000	0.05854	-9.274000	0.00843	0.304000	0.19002	0.004000	0.16614	0.000000	0.08366	0.002000	0.04165	0.0:0.6788:0.0:0.3212	5.565	0.16451	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006345	0.000000	0.005682	0.000000	0.000000	0.000000	0.008264	0.008696	0.5263	90016.0	197	chr2	97513254	.	C	T	90016.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-2.225;DP=4978;ExcessHet=38.2876;FS=3.233;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=36.95;MQRankSum=-3.978;QD=18.28;ReadPosRankSum=-0.275;SOR=0.922	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:152,132:284:99:0|1:97513244_G_T:5085,0,5980:97513244	0	1	18	0
chr2	97513268	97513268	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2717A:p.R906K	.	591	591	298	42	0	382	0.244246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2502	0.2966	0.2791	0.2632	0.3769	0.2470	0.2431	0.1747	0.0004995	13	26028	rs144131603	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.274	0.27235	T	0.119	0.26641	B	0.008	0.13708	B	.	.	.	.	.	.	.	1.495	0.37439	L	.	.	.	.	.	.	0.042	0.16028	.	.	.	.	.	.	.	0.002357304	0.00035	T	.	.	.	.	.	.	.	.	.	0.005747616653950952	0.00544	.	.	0.613570392132	0.54820	T	0.017136	0.14032	T	-0.187866	0.22573	T	-0.507633	0.21559	T	.	.	.	0.572743	0.20478	T	0.03131732	0.02950	0.0672792	0.13896	0.03131732	0.02950	0.0672792	0.13896	-3.791	0.20670	T	.	.	0.137	0.29968	B	.;.;.	.;.;.	-1.310648	0.00429	0.009	0.36842002943516644	0.02393	0.00779	0.03201	N	AEFI	.	.	.	.	.	.	.	.	.	1.25854079706441E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.0933222	0.21027	1.25	0.308	0.15062	-1.265000	0.02953	-5.898000	0.01560	-1.898000	0.00526	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7823:0.0:0.2177	5.370	0.15434	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.308701	0.315385	0.320055	0.309735	0.250000	0.263158	0.341912	0.338843	0.5263	97631.0	207	chr2	97513268	.	C	T	97631.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-0.519;DP=5204;ExcessHet=38.2876;FS=2.457;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=37.34;MQRankSum=-4.276;QD=18.86;ReadPosRankSum=0.097;SOR=0.904	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:151,149:300:99:0|1:97513268_C_T:5741,0,5876:97513268	0	1	18	0
chr2	97513270	97513270	A	C	exonic	ANKRD36B	.	stopgain	ANKRD36B:NM_025190:exon38:c.T2715G:p.Y905X	.	591	592	298	41	0	380	0.242967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2438	0.2932	0.2713	0.2615	0.3746	0.2394	0.2372	0.1697	0.0005763	15	26028	rs879468063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	0.16586	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.361473	0.04047	T	-0.757008	0.03221	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	3.385426	0.46848	22.4	0.44838944251633817	0.03476	0.03038	0.07927	N	AEFI	.	.	.	.	.	.	.	.	.	1.13426159498125E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.166916	0.28634	1.25	0.017	0.13431	-0.091000	0.11111	-1.488000	0.05326	0.375000	0.20354	0.013000	0.18845	0.000000	0.08366	0.003000	0.05239	0.7855:0.0:0.2145:0.0	4.462	0.11093	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.323424	0.318182	0.331044	0.327434	0.333333	0.307018	0.349265	0.347107	0.5263	95844.0	211	chr2	97513270	.	A	C	95844.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-0.821;DP=5239;ExcessHet=38.2876;FS=2.439;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=37.42;MQRankSum=-4.193;QD=18.3;ReadPosRankSum=-0.308;SOR=0.89	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:163,138:301:99:.:.:2907,0,6225:.	0	1	18	0
chr2	97513271	97513271	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2714G:p.Y905C	.	591	590	299	42	0	383	0.245042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2908	0.3387	0.3276	0.3085	0.4114	0.2887	0.2821	0.2034	0.0006531	17	26028	rs146893214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.56640	T	0.022	0.18677	B	0.002	0.06944	B	.	.	.	.	.	.	.	1.14	0.29013	L	.	.	.	.	.	.	0.149	0.51315	.	.	.	.	.	.	.	0.0020657778	0.00029	T	.	.	.	.	.	.	.	.	.	0.004479552258500605	0.00420	.	.	0.829705476761	0.86516	D	0.127676	0.45486	T	0.00706366	0.52624	T	-0.22763	0.52001	T	.	.	.	0.424058	0.11326	T	0.08367851	0.19332	0.12435671	0.29977	0.08367851	0.19332	0.12435671	0.29976	-3.342	0.14285	T	.	.	0.228	0.46049	B	.;.;.	.;.;.	2.163208	0.27562	17.50	0.45197924751744767	0.03530	0.10868	0.16248	N	AEFI	.	.	.	.	.	.	.	.	.	1.47313282737101E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.0933222	0.21027	1.25	1.25	0.20475	2.350000	0.43718	-0.293000	0.10176	0.334000	0.19664	0.983000	0.35670	0.000000	0.08366	0.004000	0.06068	0.0:0.2551:0.0:0.7449	3.086	0.05898	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.421021	0.365672	0.435440	0.398230	0.416667	0.385965	0.470588	0.438017	0.5263	98710.0	209	chr2	97513271	.	T	C	98710.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-1.177;DP=5239;ExcessHet=38.2876;FS=2.439;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=37.46;MQRankSum=-4.272;QD=18.84;ReadPosRankSum=-0.525;SOR=0.894	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:151,151:302:99:0|1:97513268_C_T:5785,0,5866:97513268	0	1	18	0
chr2	97513281	97513281	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2704A:p.E902K	.	587	587	303	45	0	393	0.250798	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4801	0.5496	0.4874	0.4823	0.5076	0.4642	0.4639	0.4735	0.0017529	271	154602	rs5011473	3.077e-05	0.0002	3.34e-05	2.81e-05	0.0001	2.332e-05	2.077e-05	3.145e-05	1.671e-05	0.0001	0	0	0	0.0007	0	2.729e-06	0	0	0	9.135e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.094	0.41573	T	0.98	0.59353	D	0.855	0.60933	P	.	.	.	.	.	.	.	1.765	0.45800	L	.	.	.	.	.	.	0.208	0.65758	.	.	.	.	.	.	.	0.002158165	0.00031	T	.	.	.	.	.	.	.	.	.	0.03228563945784759	0.03176	.	.	0.789947628975	0.80434	T	0.190084	0.54451	T	0.0749938	0.61451	D	-0.130053	0.60967	T	.	.	.	0.733627	0.34942	T	0.02507305	0.01405	0.09507035	0.22531	0.02507305	0.01404	0.09507035	0.22530	-6.657	0.51486	T	.	.	0.139	0.30476	B	.;.;.	.;.;.	2.117809	0.26958	17.30	0.4037492673049709	0.02845	0.56632	0.30167	D	AEFI	.	.	.	.	.	.	.	.	.	1.05171682619281E-5	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.167599	0.28683	1.4	1.4	0.21393	3.749000	0.54867	0.048000	0.13961	-0.659000	0.04360	1.000000	0.71638	0.001000	0.17328	0.002000	0.04165	0.0:1.0:0.0:0.0	8.752	0.33786	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.529548	0.601351	0.515110	0.508696	0.416667	0.517241	0.552448	0.516393	0.5263	99301.0	210	chr2	97513281	.	C	T	99301.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-0.601;DP=5349;ExcessHet=38.2876;FS=2.432;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=37.86;MQRankSum=-4.794;QD=18.72;ReadPosRankSum=-0.367;SOR=0.843	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:158,147:305:99:0|1:97513268_C_T:5575,0,6035:97513268	0	1	18	0
chr2	97513354	97513354	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2631G:p.I877M	.	663	628	207	24	0	255	0.168762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4962	0.4838	0.4975	0.4959	0.5008	0.4970	0.4959	0.4971	0.0692716	1803	26028	rs879259208	1.426e-06	2.057e-06	1.417e-06	1.436e-06	9.218e-07	2.4e-07	9e-08	.	.	0	0	0	0	0	0	9.218e-07	1.742e-05	0	3.782e-05	4.181e-05	5.896e-05	1.554e-05	0.0004	1.406e-05	9.03e-06	0.0001	9.02e-05	0	0	0.0004	0	0	0	0	0	0	0	.	.	.	0.093	0.39799	T	0.563	0.38396	P	0.061	0.26820	B	.	.	.	.	.	.	.	0.69	0.16971	N	.	.	.	.	.	.	0.086	0.34120	.	.	.	.	.	.	.	0.00250566	0.00038	T	.	.	.	.	.	.	.	.	.	0.005410322706841144	0.00512	.	.	0.634645044804	0.57804	T	0.046049	0.27308	T	-0.0562864	0.43486	T	-0.318628	0.42725	T	.	.	.	0.682432	0.29103	T	0.06877274	0.15009	0.14055093	0.33500	0.06877274	0.15009	0.14055093	0.33499	-5.398	0.40900	T	.	.	0.175	0.41387	B	.;.;.	.;.;.	2.260359	0.28881	17.94	0.78590890435183058	0.12367	0.19138	0.20543	N	AEFI	.	.	.	.	.	.	.	.	.	1.43761767599795E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.223356	0.04673	0	0.0910582	0.20564	1.4	1.4	0.21393	0.366000	0.20099	-0.250000	0.10515	0.334000	0.19664	0.995000	0.38783	0.000000	0.08366	0.026000	0.12556	0.3508:0.0:0.0:0.6492	3.561	0.07435	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.493015	0.474026	0.484848	0.500000	0.500000	0.517241	0.503597	0.495868	0.5	23586.3	111	chr2	97513354	.	T	C	23586.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.38;DP=3107;ExcessHet=48.2876;FS=1.966;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=39.22;MQRankSum=-3.517;QD=7.83;ReadPosRankSum=0.701;SOR=0.53	GT:AD:DP:GQ:PL	0/1:100,80:180:99:1819,0,2456	0	0	19	0
chr2	98121411	98121411	G	T	exonic	VWA3B	.	stopgain	VWA3B:NM_144992:exon5:c.G655T:p.E219X	.	429	1089	4	0	0	4	0.00183318	.	.	.	763484	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.00179712	0.0006	0	0	0.0082	0	4.496e-05	0	0.0002	0.0005692	88	154602	rs139296152	0.0004	0.0004	0.0004	0.0004	0.0133	0.0004	0.0004	0.0123	0.0120	0	4.472e-05	0	0.0133	0	0	3.957e-05	0.0004	0.0004	0.0003	0.0003	0.0002	0.0004	0.0077	0.0002	0.0002	0.0058	0.0052	0	0	0	0	0.0077	0	0	1.47e-05	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	0.057916	0.02103	N	1.902860	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.155	0.16028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.235631	0.15911	T	-0.107797	0.62787	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	4.270653	0.64981	24.8	0.96784735760620999	0.31087	0.03301	0.08357	N	AEFDBI	0.038761	0.05532	N	-0.358336674656555	0.26967	1.475902	-0.725411345802071	0.16329	0.8632943	0.00550120761415263	0.10959	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.33	-2.37	0.06262	0.103000	0.15128	0.656000	0.20461	-0.768000	0.03469	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2707:0.2458:0.3065:0.1769	0.997	0.01376	457	0.78953	von Willebrand factor, type A	.	.	.	.	.	Likely benign	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	1	0	.	.	.	.	.	.	.	.	0.02632	1590.33	34	chr2	98121411	.	G	T	1590.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.255;DP=734;ExcessHet=0;FS=7.047;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.29;ReadPosRankSum=0;SOR=0.282	GT:AD:DP:GQ:PL	0/1:37,67:104:99:1604,0,965	18	0	1	0
chr2	98162934	98162934	G	A	exonic	VWA3B	.	nonsynonymous SNV	VWA3B:NM_001345864:exon2:c.G43A:p.V15M,VWA3B:NM_144992:exon8:c.G1072A:p.V358M	.	427	1089	6	0	0	6	0.00274725	.	.	.	763485	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.053	.	.	0.00259585	0.0010	0	0	0.0125	0	4.509e-05	0	0.0003	0.0008732	135	154602	rs149236888	0.0006	0.0006	0.0006	0.0006	0.0179	0.0005	0.0005	0.0168	0.0164	0	4.472e-05	0	0.0179	0	0	3.237e-05	0.0005	0.0005	0.0004	0.0004	0.0004	0.0005	0.0114	0.0003	0.0003	0.0091	0.0082	0	0	6.532e-05	0	0.0114	0	0	1.47e-05	0.0005	0.0004	0.023	0.48186	D	0.03	0.54159	D	0.779	0.44223	P	0.317	0.41633	B	0.629265	0.10703	N	0.778444	0.999786	0.20372	N	2.14	0.59869	M	3.28	0.06523	T	-1.16	0.29727	N	0.302	0.34120	-1.0604	0.11656	T	0.024	0.10194	T	10	0.0046381354	0.00097	T	.	.	.	0.053	0.14996	.	.	0.29132392195	0.28731	0.07559982563667005	0.07495	0.103489838642	0.11711	0.305013388395	0.11153	T	0.002483	0.01875	T	-0.554963	0.00272	T	-0.561981	0.16191	T	0.0351484858846393	0.02834	T	0.705929	0.31637	T	0.05294634	0.09949	0.0728986	0.15780	0.05294634	0.09949	0.0728986	0.15780	-4.475	0.30560	T	.	.	0.131	0.28086	B	.	.	2.398439	0.30807	18.55	0.98333253237070639	0.40358	0.27565	0.23313	N	AEFDGBCIJ	0.278830	0.39302	N	-0.241030644301582	0.31463	1.764456	-0.262439575800613	0.29346	1.643385	0.999998115636786	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.68	-0.563	0.11188	0.256000	0.18120	1.367000	0.25926	0.676000	0.76740	0.931000	0.32310	1.000000	0.68203	0.908000	0.44358	0.1742:0.4327:0.3931:0.0	6.457	0.21139	453	0.79178	.	.	.	.	.	.	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	0.000504	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	520.33	34	chr2	98162934	.	G	A	520.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.64;DP=658;ExcessHet=0;FS=2.508;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.07;ReadPosRankSum=0.373;SOR=1.038	GT:AD:DP:GQ:PL	0/1:25,22:47:99:534,0,530	18	0	1	0
chr2	108259015	108259015	G	0	exonic	SULT1C3	.	.	.	.	441	128	465	180	308	1133	0.763182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	20118.8	247	chr2	108259015	.	G	*	20118.8	.	AC=15;AF=0.417;AN=36;BaseQRankSum=0.946;DP=3585;ExcessHet=3.336;FS=0;InbreedingCoeff=-0.1382;MLEAC=16;MLEAF=0.444;MQ=60;MQRankSum=0;QD=6.39;ReadPosRankSum=0.017;SOR=0.676	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:141,96:237:99:.:.:3602,0,5615:.	6	3	9	1
chr2	110164552	110164552	G	T	exonic	NPHP1	.	nonsynonymous SNV	NPHP1:NM_000272:exon8:c.C907A:p.R303S,NPHP1:NM_207181:exon8:c.C907A:p.R303S	Joubert syndrome 4, Autosomal recessive;Nephronophthisis 1, juvenile, Autosomal recessive;Senior-Loken syndrome-1, Autosomal recessive	5	1515	2	0	0	2	0.000659631	.	.	.	1347298	Senior-Loken_syndrome_1|Nephronophthisis_1|Joubert_syndrome_with_renal_defect|Inborn_genetic_diseases|Nephronophthisis	MONDO:MONDO:0009962,MedGen:C4551559,OMIM:266900,Orphanet:3156|MONDO:MONDO:0009728,MedGen:C1855681,OMIM:256100,Orphanet:655,Orphanet:93592|MONDO:MONDO:0012308,MedGen:C1846790,OMIM:609583,Orphanet:220497|MeSH:D030342,MedGen:C0950123|Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.085	0.00333819525995	0.0002	.	1.648e-05	0	0	0	0	2.998e-05	0	0	1.29e-05	2	154602	rs142670785	3.509e-05	4.11e-05	2.941e-05	4.078e-05	0.0002	2.699e-05	2.436e-05	3.269e-05	2.924e-05	0	0	0	0	0	0.0002	4.266e-05	5.076e-05	0	5.296e-05	5.272e-05	5.167e-05	5.433e-05	0.0001	2.574e-05	1.842e-05	5.853e-05	4.247e-05	0	0	0	0	0	0	0	0.0001	0	0	0.537	0.08261	T	0.79	0.18449	T	0.005	0.12996	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	0	0.06538	N	0.2	0.60361	T	-0.56	0.17834	N	0.148	0.15046	-0.9986	0.30311	T	0.054	0.22921	T	9	0.064249754	0.08492	T	0.003338	0.07451	T	0.085	0.24743	.	.	0.544652427739	0.54119	0.3306527555716022	0.32978	0.0881719619469	0.09959	.	.	.	0.07311	0.34618	T	-0.292909	0.09347	T	-0.550863	0.17244	T	0.0258920804424797	0.01391	T	0.236176	0.03494	T	0.082781605	0.19085	0.046383835	0.06452	0.082781605	0.19085	0.046383835	0.06452	-2.732	0.09335	T	0.08910616465072307	0.05410	0.236	0.46938	B	.;.	.;.	-0.002530	0.04265	1.061	0.17595533782944922	0.00519	0.03279	0.08322	N	AEFI	0.061651	0.11800	N	-2.06472793260997	0.00153	0.006548121	-2.09541953796694	0.00191	0.008390258	0.0763823237010231	0.15726	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	3.92	-5.97	0.02041	-0.160000	0.10029	-0.004000	0.13159	-1.915000	0.00511	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2717:0.2309:0.3317:0.1656	0.959	0.01304	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1122.33	46	chr2	110164552	.	G	T	1122.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.55;DP=834;ExcessHet=0;FS=2.711;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.9;ReadPosRankSum=-0.339;SOR=0.434	GT:AD:DP:GQ:PL	0/1:58,45:103:99:1136,0,1375	18	0	1	0
chr2	113201396	113201396	G	A	exonic	PSD4	.	nonsynonymous SNV	PSD4:NM_012455:exon17:c.G3152A:p.R1051Q	.	422	1094	5	1	0	7	0.00318907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.181	0.0235273992307	0.0048	0.00159744	0.0036	0.0014	0.0025	0	0.0006	0.0055	0	0.0016	0.0035834	554	154602	rs143129434	0.0039	0.0039	0.0039	0.0039	0.0044	0.0038	0.0038	0.0043	0.0043	0.0018	0.0034	0.0051	7.557e-05	0.0006	0.0021	0.0044	0.0039	0.0016	0.0036	0.0036	0.0040	0.0031	0.0057	0.0033	0.0032	0.0047	0.0045	0.0015	0	0.0057	0.0072	0	0.0003	0	0.0051	0.0052	0.0010	0.001	0.78490	D	0.025	0.58089	D	1.0	0.90584	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	0.890979	0.27882	N	1.87	0.49600	L	2.59	0.13317	T	-1.42	0.34992	N	0.355	0.44666	-1.1301	0.01777	T	0.066	0.27121	T	10	0.007448405	0.00169	T	0.023527	0.46494	T	0.181	0.45247	.	.	0.538973816733	0.53549	0.7660072783222187	0.76549	2.04250429842	0.94277	0.501843750477	0.39085	T	0.058434	0.30840	T	-0.51131	0.00493	T	-0.499989	0.22349	T	0.0214733978783514	0.00851	T	0.862614	0.58632	D	0.35550728	0.57492	0.31806865	0.57777	0.35550728	0.57492	0.31806865	0.57776	-10.126	0.75412	D	.	.	0.558	0.67136	A	.;.	.;.	5.507595	0.91651	32	0.99949942069287123	0.99938	0.89299	0.49680	D	AEFBCI	.	.	.	0.669504729249229	0.77634	6.712942	0.671620851516471	0.80229	7.252846	0.999999817714789	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.658983	0.55881	0	0.586402	0.36253	0	.	.	5.22	5.22	0.72285	3.875000	0.55821	11.690000	0.94342	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	16.272	0.82453	609	0.67094	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1235.33	34	chr2	113201396	.	G	A	1235.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.128;DP=746;ExcessHet=0;FS=0.713;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.47;ReadPosRankSum=-1.518;SOR=0.597	GT:AD:DP:GQ:PL	0/1:65,53:118:99:1249,0,1670	18	0	1	0
chr2	137057139	137057139	C	T	exonic	THSD7B	.	nonsynonymous SNV	THSD7B:NM_001316349:exon3:c.C859T:p.H287Y	.	435	1080	6	1	0	8	0.00369004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.00865920343071	0.0005	0.00139776	0.0009	0	0.0007	0.0001	0	0.0007	0	0.0032	0.0008344	129	154602	rs138536184	0.0006	0.0006	0.0005	0.0007	0.0043	0.0006	0.0006	0.0032	0.0031	8.961e-05	0.0006	0	5.038e-05	3.745e-05	0.0043	0.0004	0.0010	0.0035	0.0005	0.0005	0.0004	0.0006	0.0039	0.0004	0.0004	0.0026	0.0021	2.407e-05	0	0.0009	0	0	9.434e-05	0	0.0006	0.0009	0.0039	0.036	0.43393	D	0.155	0.32461	T	0.865	0.47557	P	0.582	0.50238	P	0.000209	0.47681	D	0.254140	0.838657	0.35031	D	.	.	.	2.46	0.22678	T	-1.81	0.42575	N	0.482	0.51672	-1.0549	0.13066	T	0.075	0.30272	T	10	0.010668129	0.00236	T	0.008659	0.22878	T	0.112	0.31546	.	.	0.306053231325	0.30222	0.2265960925020215	0.22574	0.463648763095	0.45864	0.308384954929	0.11663	T	0.02182	0.16927	T	-0.503573	0.00546	T	-0.499489	0.22401	T	0.0358017558464927	0.02946	T	0.746025	0.36642	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.10449	B	.;.;.	.;.;.	2.959009	0.39404	21.0	0.99716485825744017	0.81703	0.96634	0.70130	D	AEFGI	0.586393	0.58445	D	0.149417804205922	0.48785	3.086508	0.228422151497015	0.51429	3.325623	0.00420211334434453	0.10457	0.533608	0.22052	0	0.573888	0.26702	0	0.685742	0.62368	0	0.564101	0.26826	0	.	.	5.45	5.45	0.79688	4.771000	0.62011	5.929000	0.51288	0.549000	0.26987	0.997000	0.40164	0.972000	0.29809	0.955000	0.50612	0.1503:0.8496:0.0:0.0	14.126	0.64749	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	0.002014	0.000000	0.004076	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1314.33	65	chr2	137057139	.	C	T	1314.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.209;DP=974;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.84;ReadPosRankSum=-0.667;SOR=0.692	GT:AD:DP:GQ:PL	0/1:61,50:111:99:1328,0,1741	18	0	1	0
chr2	148489926	148489926	G	A	exonic	MBD5	.	nonsynonymous SNV	MBD5:NM_001378120:exon11:c.G4294A:p.G1432R,MBD5:NM_018328:exon12:c.G3595A:p.G1199R	Mental retardation, autosomal dominant 1, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	201240	not_provided|Intellectual_disability,_autosomal_dominant_1	MedGen:C3661900|MONDO:MONDO:0007974,MedGen:C1969562,OMIM:156200,Orphanet:228402	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.302	0.0450540323599	0.0002	.	9.08e-05	9.677e-05	0	0.0002	0	6.006e-05	0.0011	0.0002	7.12e-05	11	154602	rs201334086	3.557e-05	3.557e-05	3.131e-05	3.988e-05	0.0003	2.762e-05	2.501e-05	8.198e-05	5.784e-05	0	0	0.0005	0.0002	0	0.0003	1.439e-05	0.0001	5.797e-05	7.888e-05	7.876e-05	0.0001	4.034e-05	0.0006	4.498e-05	3.513e-05	0.0002	8.398e-05	4.816e-05	0	0	0.0014	0.0006	0	0	1.471e-05	0.0005	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.976	0.78396	D	0.000005	0.62929	D	0.000000	0.999233	0.81001	D	0.895	0.22405	L	0.23	0.61677	T	-1.37	0.38734	N	0.539	0.62103	-0.5048	0.68475	T	0.288	0.65968	T	10	0.15922481	0.29923	T	0.045054	0.61794	D	0.302	0.62290	0.184	0.09259	0.428053063409	0.42423	0.4486388613139225	0.44781	0.187520301896	0.21068	0.604862213135	0.53590	T	0.041102	0.25748	T	0.00970198	0.52983	T	0.0128283	0.71165	D	0.213410399235777	0.21130	T	0.912709	0.69569	D	0.45625213	0.64437	0.4782838	0.69778	0.45625213	0.64437	0.4782838	0.69778	-2.796	0.08147	T	.	.	0.183	0.44707	B	.;.;.;.	.;.;.;.	4.100693	0.61141	24.3	0.99705444664170217	0.80936	0.99077	0.90888	D	AEFBI	0.884344	0.81396	D	0.760228115872001	0.83570	8.05199	0.817552651786079	0.90984	10.66332	0.999999999999616	0.74766	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	6.01	6.01	0.97420	8.570000	0.90537	10.019000	0.83127	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	20.518	0.99217	650	0.62973	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	2432.33	50	chr2	148489926	.	G	A	2432.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.808;DP=800;ExcessHet=0;FS=1.35;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.89;ReadPosRankSum=0.678;SOR=0.726	GT:AD:DP:GQ:PL	0/1:56,88:144:99:2446,0,1347	18	0	1	0
chr2	152607411	152607411	A	G	exonic	FMNL2	.	nonsynonymous SNV	FMNL2:NM_052905:exon10:c.A949G:p.M317V	.	469	1052	1	0	0	1	0.000475059	0.2688	0.436	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.560	0.0581284884376	.	.	9.701e-06	0	0	0	0	1.754e-05	0	0	6.5e-06	1	154602	rs778481687	2.743e-06	2.736e-06	2.728e-06	2.757e-06	2.991e-05	6.4e-07	4.3e-07	7.2e-07	2e-07	2.991e-05	0	0	0	0	0	2.703e-06	0	0	6.583e-06	6.573e-06	0	1.348e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.002	0.72154	D	0.043	0.49942	D	0.102	0.25827	B	0.054	0.25828	B	0.000000	0.84330	D	0.068519	1	0.81001	D	3.31	0.90591	M	-1.69	0.82985	D	-3.39	0.66896	D	0.834	0.82964	-0.1741	0.78328	T	0.518	0.81980	D	10	0.6705427	0.70686	D	0.058128	0.67208	D	0.560	0.81946	0.648	0.78542	0.648762833658	0.64584	0.6191195858179608	0.61844	0.448017709294	0.44648	0.85267573595	0.90017	D	.	.	.	0.261224	0.79642	D	0.152939	0.80371	D	0.775899291038513	0.44797	D	0.972403	0.89999	D	.	.	.	.	.	.	.	.	-13.167	0.90039	D	.	.	0.596	0.68719	P	.	.	4.243177	0.64354	24.7	0.9834345847763275	0.40467	0.97480	0.75020	D	AEBI	0.852327	0.76923	D	0.185578249716742	0.50506	3.240008	0.338818474378577	0.57838	3.951067	0.999998675188107	0.74766	0.732398	0.92422	0	0.588066	0.40923	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	5.92	5.92	0.95557	5.237000	0.65185	9.340000	0.80208	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	16.021	0.80294	316	0.87161	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	502.33	34	chr2	152607411	.	A	G	502.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.185;DP=705;ExcessHet=0;FS=6.632;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.98;ReadPosRankSum=-0.956;SOR=1.19	GT:AD:DP:GQ:PL	0/1:48,24:72:99:516,0,1228	18	0	1	0
chr2	161416504	161416504	C	T	exonic	TBR1	.	nonsynonymous SNV	TBR1:NM_006593:exon1:c.C94T:p.L32F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.035376100049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.307	0.19908	T	0.005	0.12996	B	0.003	0.08700	B	0.011267	0.29595	N	0.322160	0.999999	0.58761	D	1.095	0.27400	L	-2.27	0.87433	D	-0.18	0.09796	N	0.298	0.33687	-0.1190	0.79657	T	0.556	0.83808	D	10	0.1734454	0.32171	T	0.035376	0.56304	D	0.215	0.50805	0.296	0.26041	0.332276917938	0.32835	0.5695582387100309	0.56883	.	.	0.753842949867	0.75014	T	0.253087	0.62356	T	0.000787688	0.51762	T	-0.236645	0.51126	T	0.584865859875217	0.35806	D	0.770523	0.40040	T	0.18915862	0.40445	0.20821	0.45113	0.18915862	0.40445	0.20821	0.45112	-4.535	0.31344	T	.	.	0.136	0.29642	B	.	.	5.563316	0.92155	32	0.9925224513219093	0.56924	0.97134	0.72889	D	AEFDBCI	0.765344	0.70186	D	0.0897049984129094	0.45984	2.845895	0.256393002742456	0.53015	3.472574	0.999999991095005	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.608004	0.38603	0	0.526665	0.08891	0	.	.	5.15	5.15	0.70287	4.533000	0.60328	7.723000	0.67399	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	17.784	0.88443	700	0.57880	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	5758.81	39	chr2	161416504	.	C	T	5758.81	.	AC=2;AF=0.053;AN=38;DP=831;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.82;SOR=1.063	GT:AD:DP:GQ:PL	1/1:0,181:181:99:5786,543,0	18	1	0	0
chr2	166432502	166432502	T	A	exonic	SCN7A	.	nonsynonymous SNV	SCN7A:NM_002976:exon16:c.A2408T:p.D803V	.	433	1060	25	4	0	33	0.0153275	.	.	.	697139	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.407	.	0.0029	0.00299521	0.0035	0.0008	0.0029	0	0.0003	0.0043	0.0189	0.0043	0.003163	489	154602	rs148715564	0.0025	0.0025	0.0023	0.0028	0.0241	0.0025	0.0024	0.0208	0.0196	0.0008	0.0038	0.0211	2.52e-05	0.0011	0.0241	0.0019	0.0051	0.0046	0.0027	0.0027	0.0027	0.0026	0.0062	0.0025	0.0024	0.0045	0.0039	0.0006	0	0.0045	0.0202	0	0.0007	0.0374	0.0026	0.0090	0.0062	0.008	0.58626	D	0.071	0.43531	T	0.89	0.48942	P	0.599	0.50715	P	0.674926	0.06058	N	1.173820	0.999647	0.20796	N	1.775	0.45938	L	-1.73	0.83327	D	-3.21	0.64826	D	0.198	0.24758	-0.4964	0.68780	T	0.370	0.72985	T	10	0.0068911016	0.00156	T	.	.	.	0.407	0.71946	.	.	0.833789463224	0.83220	0.3576625464741428	0.35680	0.0478619375495	0.05220	0.27166607976	0.06359	T	0.464206	0.79985	T	-0.430671	0.01469	T	-0.391276	0.34403	T	0.0886948189914002	0.11061	T	0.181582	0.01831	T	0.19315112	0.41013	0.13550666	0.32442	0.19315112	0.41013	0.13550666	0.32441	-5.047	0.37346	T	.	.	0.071	0.04396	B	.;.;.;.;.	.;.;.;.;.	1.191716	0.15830	12.13	0.93693795261220436	0.23601	0.17821	0.20001	N	AEFHCI	0.231834	0.35500	N	-0.557061957680997	0.20264	1.066895	-0.782328897511471	0.14929	0.7825812	0.974590910610634	0.29556	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.51	-5.18	0.02624	-0.247000	0.08884	-0.041000	0.12668	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.978000	0.57271	0.3942:0.0684:0.2212:0.3163	2.095	0.03444	537	0.73184	Sodium ion transport-associated;Sodium ion transport-associated;Sodium ion transport-associated;Sodium ion transport-associated;Sodium ion transport-associated	.	.	.	.	.	Likely benign	0	0	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	0.033233	0.060606	0.031250	0.040936	0.000000	0.017241	0.042683	0.011364	0.05263	6416.81	35	chr2	166432502	.	T	A	6416.81	.	AC=2;AF=0.053;AN=38;DP=831;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.15;SOR=0.928	GT:AD:DP:GQ:PL	1/1:0,206:206:99:6444,618,0	18	1	0	0
chr2	168247287	168247292	GCCGGG	-	exonic	STK39	.	nonframeshift deletion	STK39:NM_013233:exon1:c.144_149del:p.P49_A50del	.	35	129	12	48	2	110	0.295082	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1297992868	0.0017	0.0013	0.0017	0.0016	0.0023	0.0016	0.0016	0.0017	0.0016	0.0022	0.0023	0	0.0021	0.0002	0.0022	0.0017	0.0014	0.0009	0.0019	0.0019	0.0019	0.0019	0.0028	0.0017	0.0017	0.0024	0.0022	0.0028	0	0.0019	0	0.0012	0	0	0.0019	0.0030	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	1589.07	1	chr2	168247286	.	CGCCGGG	C	1589.07	.	AC=2;AF=0.063;AN=32;BaseQRankSum=0.306;DP=153;ExcessHet=0;FS=0;InbreedingCoeff=0.6911;MLEAC=2;MLEAF=0.063;MQ=60;MQRankSum=0;QD=26.23;ReadPosRankSum=-1.876;SOR=0.627	GT:AD:DP:GQ:PL	1/1:0,4:4:12:180,12,0	15	1	0	3
chr2	168935313	168935313	T	C	exonic	ABCB11	.	nonsynonymous SNV	ABCB11:NM_003742:exon23:c.A2927G:p.Q976R	Cholestasis, benign recurrent intrahepatic, 2, Autosomal recessive;Cholestasis, progressive familial intrahepatic 2, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	285414	not_provided|Progressive_familial_intrahepatic_cholestasis_type_2|ABCB11-related_disorder	MedGen:C3661900|MONDO:MONDO:0011156,MedGen:C3489789,OMIM:601847,Orphanet:79304|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.161	0.0630471727963	0.0006	.	0.0005	0.0005	0.0002	0	0.0003	0.0007	0	0.0002	0.0004334	67	154602	rs199940188	0.0003	0.0003	0.0003	0.0004	0.0054	0.0003	0.0003	0.0039	0.0034	0.0006	0.0002	0.0055	0	5.618e-05	0.0054	0.0002	0.0008	0.0002	0.0005	0.0005	0.0005	0.0004	0.0006	0.0004	0.0004	0.0004	0.0003	0.0006	0	6.534e-05	0.0072	0	9.411e-05	0	0.0003	0.0005	0	0.769	0.03392	T	0.472	0.12176	T	0.0	0.02946	B	0.002	0.06944	B	0.025057	0.26156	N	0.418604	0.999595	0.20909	N	-1.72	0.00341	N	-2.31	0.87750	D	0.91	0.01595	N	0.148	0.15046	-0.8478	0.52120	T	0.211	0.57134	T	10	0.00719887	0.00164	T	0.063047	0.68844	D	0.161	0.41658	.	.	0.517322629239	0.51374	0.5683443633351937	0.56762	0.153187692452	0.17289	0.215077936649	0.01045	T	0.209351	0.56954	T	-0.444391	0.01219	T	-0.522079	0.20084	T	0.00169547739832152	0.00017	T	0.633437	0.24778	T	0.04173554	0.06202	0.068955116	0.14468	0.04173554	0.06201	0.068955116	0.14467	-0.944	0.00939	T	0.038667763551449054	0.00294	0.051	0.00179	B	.;.;.	.;.;.	0.023856	0.04450	1.174	0.5678593571559355	0.05627	0.10433	0.15941	N	AEFBCI	0.129535	0.24775	N	-1.26780466414973	0.04069	0.1829828	-1.0981464927333	0.07737	0.3775207	0.999871348006449	0.44625	0.549168	0.22868	0	0.627178	0.54094	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.78	2.24	0.27264	0.429000	0.21131	-0.177000	0.11169	-0.123000	0.13640	0.034000	0.20669	0.000000	0.08366	0.238000	0.22948	0.0:0.6217:0.0:0.3783	10.062	0.41452	847	0.35998	ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain;ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.005435	0.000000	0.000000	0.000000	0.003049	0.000000	0.05263	4918.81	35	chr2	168935313	.	T	C	4918.81	.	AC=2;AF=0.053;AN=38;DP=783;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=29.63;SOR=0.717	GT:AD:DP:GQ:PL	1/1:0,166:166:99:4946,498,0	18	1	0	0
chr2	169174129	169174129	C	T	exonic	LRP2	.	nonsynonymous SNV	LRP2:NM_004525:exon56:c.G10804A:p.A3602T	Donnai-Barrow syndrome, Autosomal recessive	0	1515	7	0	0	7	0.00230491	.	.	.	134937	not_specified|Donnai-Barrow_syndrome|not_provided	MedGen:CN169374|MONDO:MONDO:0009104,MedGen:C1857277,OMIM:222448,Orphanet:2143|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.421	.	0.0105	0.00878594	0.0030	0.0306	0.0022	0	0	0.0002	0.0011	0.0004	0.0027619	427	154602	rs144081819	0.0012	0.0012	0.0013	0.0011	0.0361	0.0011	0.0011	0.0345	0.0338	0.0361	0.0019	0	7.557e-05	3.744e-05	0.0078	0.0002	0.0023	0.0003	0.0096	0.0097	0.0103	0.0090	0.0330	0.0092	0.0091	0.0316	0.0310	0.0330	0	0.0032	0	0.0002	0	0.0034	0.0003	0.0109	0.0004	0.193	0.20912	T	0.349	0.17531	T	0.999	0.77913	D	0.935	0.67021	D	0.000000	0.84330	N	0.049433	0.999999	0.58761	D	0.81	0.20779	L	-3.77	0.95595	D	-1.03	0.27052	N	0.265	0.30004	0.364	0.88551	D	0.689	0.89272	D	10	0.00956285	0.00215	T	.	.	.	0.421	0.73005	.	.	0.51743518642	0.51388	0.30351578916579286	0.30264	0.260949431281	0.28653	0.348758071661	0.17740	T	0.171379	0.51948	T	-0.373346	0.03428	T	-0.285377	0.46250	T	0.017821982010078	0.00510	T	0.785321	0.42297	T	0.07238729	0.16097	0.1601054	0.37307	0.09768484	0.23029	0.15630835	0.36601	-5.602	0.42810	T	0.33146591189512603	0.42947	0.079	0.07318	B	.;.	.;.	2.695267	0.35192	19.83	0.98852393245789272	0.47322	0.90017	0.50872	D	AEFDBIJ	0.557791	0.56727	D	0.140152050072271	0.48345	3.048033	0.130702981206468	0.46126	2.863866	0.999998356198931	0.74766	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.41	4.54	0.55220	1.743000	0.37883	2.729000	0.34373	-0.808000	0.03092	0.985000	0.35982	0.993000	0.31925	0.440000	0.27671	0.0:0.9309:0.0:0.0691	15.008	0.71185	886	0.28090	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004532	0.005051	0.005435	0.005848	0.000000	0.000000	0.000000	0.003788	0.05263	4589.81	34	chr2	169174129	.	C	T	4589.81	.	AC=2;AF=0.053;AN=38;DP=789;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.01;SOR=1.298	GT:AD:DP:GQ:PL	1/1:0,148:148:99:4617,444,0	18	1	0	0
chr2	178575301	178575301	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon154:c.G43636A:p.A14546T,TTN:NM_133432:exon155:c.G44011A:p.A14671T,TTN:NM_133437:exon155:c.G44212A:p.A14738T,TTN:NM_133378:exon275:c.G63127A:p.A21043T,TTN:NM_001256850:exon276:c.G65908A:p.A21970T,TTN:NM_001267550:exon326:c.G70831A:p.A23611T	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	1183042	not_specified|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Dilated_cardiomyopathy_1G|Cardiovascular_phenotype|not_provided	MedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:CN230736|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.163	0.0435901636639	0.0002	.	6.678e-05	0.0001	0	0	0	9.041e-05	0	6.09e-05	7.12e-05	11	154602	rs373765469	4.175e-05	4.173e-05	4.085e-05	4.265e-05	3.958e-05	3.312e-05	3.002e-05	3e-05	2.672e-05	0	2.237e-05	0.0004	0	0	0	3.958e-05	4.971e-05	2.319e-05	3.944e-05	3.94e-05	2.57e-05	5.385e-05	7.237e-05	1.716e-05	1.13e-05	1.919e-05	1.032e-05	7.237e-05	0	0	0.0003	0	0	0	2.942e-05	0	0	0.046	0.48642	D	.	.	.	0.929	0.51690	P	0.355	0.42984	B	.	.	.	.	0.997067	0.43605	D	1.99	0.53851	M	0.34	0.58176	T	-2.21	0.50666	N	0.38	0.58202	-0.6588	0.62329	T	0.194	0.54739	T	9	0.13415396	0.25532	T	0.04359	0.61059	D	0.163	0.42028	.	.	0.245101548738	0.24120	.	.	0.213166303579	0.23823	0.599353432655	0.52813	T	.	.	.	-0.199232	0.20915	T	-0.342432	0.40069	T	0.0584918550811933	0.06929	T	0.955204	0.83632	D	.	.	.	.	.	.	.	.	-5.668	0.43408	T	.	.	0.123	0.25689	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.031313	0.40608	21.2	0.90329016023232689	0.19595	0.93942	0.59640	D	AEFBI	.	.	.	0.413888215430264	0.62185	4.430427	0.422529720771164	0.62970	4.521967	0.861194344415107	0.25229	0.638212	0.43195	0	0.636889	0.57051	0	0.385369	0.06276	2	0.668105	0.65232	0	.	.	5.6	4.71	0.59010	4.873000	0.62751	.	.	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.932000	0.46971	0.0:0.93:0.0:0.07	14.874	0.70118	435	0.80441	.;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	8209.81	98	chr2	178575301	.	C	T	8209.81	.	AC=2;AF=0.053;AN=38;DP=1923;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=32.95;SOR=0.747	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,187:187:99:1|1:178575301_C_T:8237,562,0:178575301	18	1	0	0
chr2	191416233	191416233	T	C	exonic	MYO1B	.	nonsynonymous SNV	MYO1B:NM_012223:exon28:c.T3104C:p.I1035T,MYO1B:NM_001330237:exon29:c.T3191C:p.I1064T,MYO1B:NM_001330238:exon29:c.T3191C:p.I1064T,MYO1B:NM_001130158:exon30:c.T3278C:p.I1093T,MYO1B:NM_001161819:exon30:c.T3278C:p.I1093T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.364	0.0230804830968	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.78490	D	0.041	0.54159	D	0.935	0.52277	P	0.818	0.58969	P	0.000000	0.84330	D	0.000000	0.999967	0.58761	D	2.165	0.60562	M	1.16	0.38073	T	-2.73	0.61722	D	0.857	0.87157	-0.7344	0.58740	T	0.205	0.56321	T	10	0.93489313	0.92822	D	0.02308	0.46020	T	0.364	0.68407	0.846	0.94965	0.324576393752	0.32066	0.7763958575296147	0.77589	1.25182992795	0.81823	0.863419234753	0.91615	D	0.105555	0.41613	T	0.242221	0.77871	D	0.110157	0.77583	D	0.958179496922254	0.65201	D	0.963904	0.89999	D	0.33179238	0.55617	0.45496646	0.68311	0.33179238	0.55617	0.45496646	0.68311	-7.847	0.60029	D	.	.	0.807	0.79148	P	.;.;.;.	.;.;.;.	4.649876	0.74108	26.1	0.99830677497992992	0.91284	0.98170	0.80208	D	AEFBCI	0.912544	0.87332	D	0.653719637476496	0.76610	6.518366	0.646978789277028	0.78386	6.865827	0.99999999727968	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.46	5.46	0.80021	6.789000	0.74898	7.901000	0.73554	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.907000	0.44265	0.0:0.0:0.0:1.0	14.399	0.66598	528	0.73785	.;Class I myosin tail homology domain|Class I myosin tail homology domain;Class I myosin tail homology domain|Class I myosin tail homology domain;Class I myosin tail homology domain|Class I myosin tail homology domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1660.33	34	chr2	191416233	.	T	C	1660.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1;DP=791;ExcessHet=0;FS=0.571;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.54;ReadPosRankSum=-0.211;SOR=0.782	GT:AD:DP:GQ:PL	0/1:105,69:174:99:1674,0,2679	18	0	1	0
chr2	196892401	196892401	C	T	exonic	PGAP1	.	nonsynonymous SNV	PGAP1:NM_024989:exon9:c.G1034A:p.G345E,PGAP1:NM_001321099:exon10:c.G512A:p.G171E	Mental retardation, autosomal recessive 42, Autosomal recessive	.	.	.	.	.	.	.	0.0047	0.27	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.025e-07	8.928e-06	1.616e-06	0	1.062e-06	0	0	.	.	0	0	0	0	0	0	1.062e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.482	0.08188	T	1.0	0.01155	T	0.001	0.07471	B	0.002	0.06944	B	0.016260	0.28027	N	0.369282	1	0.81001	D	0.345	0.11182	N	.	.	.	-0.47	0.24026	N	0.211	0.33687	-1.0409	0.17041	T	0.067	0.27708	T	9	0.08465713	0.14210	T	0.005824	0.15131	T	0.073	0.21317	0.443	0.49975	0.509053020717	0.50544	0.612476177143206	0.61179	0.252176079985	0.27787	0.615294694901	0.55063	T	0.057274	0.30520	T	-0.0837371	0.39104	T	-0.358059	0.38278	T	0.142413005232811	0.16481	T	0.711829	0.32321	T	0.03891986	0.05276	0.06608482	0.13486	0.03891986	0.05275	0.06608482	0.13485	-3.047	0.10696	T	.	.	0.127	0.27131	B	.;.;.	.;.;.	1.241003	0.16370	12.49	0.5284964686497684	0.04826	0.57952	0.30512	D	AEFBI	0.184920	0.31225	N	-0.704401609202122	0.15897	0.8052829	-0.535060875751496	0.21204	1.145944	2.58577039305788E-4	0.06190	0.651	0.46895	0	0.547309	0.14657	0	0.670488	0.60580	0	0.683762	0.67416	0	.	.	4.78	2.93	0.33092	0.968000	0.28955	0.841000	0.22043	-0.240000	0.07525	0.822000	0.30018	0.268000	0.24029	0.984000	0.60418	0.3592:0.6408:0.0:0.0	10.243	0.42503	350	0.85473	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1030.33	36	chr2	196892401	.	C	T	1030.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.896;DP=724;ExcessHet=0;FS=0.776;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.08;ReadPosRankSum=-1.815;SOR=0.573	GT:AD:DP:GQ:PL	0/1:45,48:93:99:1044,0,1020	18	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	.	.	.	.	.	.	.	.	0.4722	5666.6	35	chr2	197523648	.	T	C	5666.6	.	AC=17;AF=0.472;AN=36;BaseQRankSum=-1.356;DP=1595;ExcessHet=31.086;FS=383.252;InbreedingCoeff=-0.8661;MLEAC=18;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.89;ReadPosRankSum=0.863;SOR=12.723	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:57,34:91:99:.:.:271,0,945:.	1	0	17	1
chr2	202952598	202952598	C	T	exonic	CARF	.	nonsynonymous SNV	CARF:NM_001282912:exon3:c.C82T:p.R28C,CARF:NM_001282910:exon4:c.C118T:p.R40C,CARF:NM_001322429:exon4:c.C310T:p.R104C,CARF:NM_001352677:exon4:c.C40T:p.R14C,CARF:NM_001104586:exon5:c.C346T:p.R116C,CARF:NM_001282911:exon5:c.C118T:p.R40C,CARF:NM_001322428:exon5:c.C346T:p.R116C,CARF:NM_001322427:exon6:c.C346T:p.R116C,CARF:NM_024744:exon6:c.C346T:p.R116C	.	441	1070	11	0	0	11	0.0051139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	0.0109573943316	0.0003	0.000199681	0.0005	0.0002	0.0015	0	0	0.0003	0.0022	0.0008	0.0004463	69	154602	rs192573972	0.0003	0.0003	0.0003	0.0003	0.0168	0.0003	0.0003	0.0141	0.0131	0.0004	0.0015	0	0	0	0.0168	0.0001	0.0005	0.0008	0.0004	0.0004	0.0004	0.0004	0.0016	0.0003	0.0003	0.0011	0.0010	0	0.0055	0.0016	0	0	0	0.0136	0.0002	0.0019	0.0008	0.011	0.72154	D	0.039	0.79402	D	0.995	0.73220	D	0.648	0.55529	P	0.050544	0.23060	N	0.366056	0.94809	0.39125	D	1.95	0.52479	M	.	.	.	-1.34	0.78891	N	0.463	0.58713	-0.2644	0.75967	T	0.353	0.71681	T	9	0.020588279	0.00477	T	0.010957	0.28083	T	0.194	0.47447	.	.	0.273503213844	0.26977	0.42086041258074336	0.42002	0.741878754513	0.63308	0.21025967598	0.00822	T	0.183861	0.53634	T	-0.268994	0.11869	T	-0.20472	0.54200	T	0.0734380806585915	0.09126	T	0.953805	0.83996	D	0.14000247	0.32318	0.08636636	0.20004	0.14000247	0.32317	0.08636636	0.20003	-7.341	0.56487	T	.	.	0.103	0.38080	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	5.008320	0.83146	28.0	0.99912041254882966	0.98095	0.90417	0.51576	D	AEFI	0.604286	0.59544	D	0.54030736074692	0.69492	5.364863	0.557127502577207	0.71893	5.724977	0.997466032780412	0.35646	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	5.46	5.46	0.80021	3.003000	0.49192	.	.	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	18.287	0.90059	505	0.75648	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.012085	0.000000	0.016304	0.026316	0.000000	0.034483	0.000000	0.000000	0.02632	1255.33	37	chr2	202952598	.	C	T	1255.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.64;DP=776;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.64;ReadPosRankSum=-1.788;SOR=0.615	GT:AD:DP:GQ:PL	0/1:37,55:92:99:1269,0,805	18	0	1	0
chr2	205401024	205401024	A	G	exonic	PARD3B	.	nonsynonymous SNV	PARD3B:NM_057177:exon18:c.A2435G:p.K812R,PARD3B:NM_152526:exon18:c.A2456G:p.K819R,PARD3B:NM_001302769:exon19:c.A2642G:p.K881R,PARD3B:NM_205863:exon19:c.A2642G:p.K881R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.0147362471348	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1159173231	7.61e-06	8.209e-06	8.231e-06	6.978e-06	0.0016	4.08e-06	2.99e-06	0.0008	0.0006	0	0	0	0	0	0.0016	0	3.335e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.201	0.21385	T	0.397	0.19131	T	0.997	0.90584	D	0.98	0.86255	D	0.000000	0.84330	D	0.000000	0.627757	0.35566	D	2.67	0.78151	M	1.31	0.35405	T	-0.49	0.17417	N	0.247	0.28849	-0.5377	0.67251	T	0.200	0.55667	T	10	0.23977852	0.41124	T	0.014736	0.35052	T	0.102	0.29158	0.264	0.20946	0.675459934904	0.67270	0.036085109179377725	0.03555	0.17661787198	0.19876	0.511968076229	0.40498	T	0.024778	0.26443	T	-0.0962828	0.37041	T	-0.37608	0.36179	T	0.787106335163116	0.45501	D	0.838916	0.57764	T	0.17971659	0.39056	0.14941572	0.35280	0.17971659	0.39056	0.14941572	0.35279	-5.876	0.46546	T	.	.	0.085	0.20196	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.054414	0.60118	24.2	0.99756772503418789	0.84694	0.93924	0.59587	D	AEFDI	0.513394	0.54121	D	0.569030307686825	0.71249	5.622129	0.529314811013291	0.69971	5.437131	0.999999588428724	0.74766	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.45	5.45	0.79688	3.081000	0.49818	11.173000	0.88038	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	0.947000	0.49155	1.0:0.0:0.0:0.0	14.043	0.64210	896	0.25515	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002016	0.005051	0.004076	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	821.33	34	chr2	205401024	.	A	G	821.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.237;DP=686;ExcessHet=0;FS=2.155;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.25;ReadPosRankSum=0.952;SOR=0.715	GT:AD:DP:GQ:PL	0/1:27,35:62:99:835,0,664	18	0	1	0
chr2	207712062	207712062	G	A	exonic	CCNYL1	.	nonsynonymous SNV	CCNYL1:NM_001142300:exon1:c.G166A:p.G56R,CCNYL1:NM_001330218:exon1:c.G166A:p.G56R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.374159976195	7.7e-05	.	3.984e-05	0	0	0	0	6.787e-05	0	0	1.94e-05	3	154602	rs372198238	1.418e-05	1.779e-05	1.126e-05	1.713e-05	0.0002	9.26e-06	7.53e-06	1.115e-05	8.98e-06	0	0	0	0	0	0.0002	1.743e-05	0	0	1.314e-05	1.312e-05	0	2.686e-05	2.941e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	0.013	0.53900	D	0.018	0.59732	D	0.025	0.19245	B	0.013	0.16460	B	0.101554	0.19834	U	0.474569	1	0.81001	D	1.555	0.39373	L	1.38	0.34050	T	-4.21	0.75776	D	0.383	0.43223	-1.0615	0.11385	T	0.048	0.20513	T	9	0.13779256	0.26210	T	0.37416	0.92818	D	0.040	0.10527	0.292	0.25400	0.110392049598	0.10638	0.24685097066375808	0.24599	0.847429405182	0.68384	0.912337124348	0.97686	D	0.069035	0.33608	T	-0.183198	0.23262	T	-0.397984	0.33618	T	0.361268699169159	0.27459	T	0.667933	0.27701	T	0.22137316	0.44713	0.26610968	0.52452	0.22137316	0.44713	0.26610968	0.52451	-4.015	0.25804	T	.	.	0.159	0.35225	B	.;.;.	.;.;.	2.322758	0.29746	18.22	0.99865401720265423	0.94366	0.59957	0.31059	D	ALL	0.188233	0.31551	N	-0.273662507212795	0.30168	1.679698	-0.150207496233299	0.33401	1.910184	0.999999999998679	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.504199	0.09095	0	0.56214	0.19341	0	.	.	3.67	3.67	0.41236	4.647000	0.61115	2.681000	0.34017	0.511000	0.23309	0.956000	0.33378	0.998000	0.33993	0.875000	0.41745	0.0:0.0:1.0:0.0	12.741	0.56627	658	0.62094	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1000.33	35	chr2	207712062	.	G	A	1000.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.413;DP=715;ExcessHet=0;FS=4.183;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.91;ReadPosRankSum=0.899;SOR=0.518	GT:AD:DP:GQ:PL	0/1:42,42:84:99:1014,0,1045	18	0	1	0
chr2	208444824	208444824	C	G	exonic	PTH2R	.	nonsynonymous SNV	PTH2R:NM_001309516:exon7:c.C457G:p.L153V,PTH2R:NM_001371907:exon7:c.C457G:p.L153V,PTH2R:NM_005048:exon7:c.C790G:p.L264V,PTH2R:NM_001371905:exon8:c.C457G:p.L153V,PTH2R:NM_001371906:exon8:c.C457G:p.L153V	.	436	1085	1	0	0	1	0.000460617	.	.	.	3588801	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.379	0.0226104653123	.	.	3.295e-05	0	0	0	0	4.496e-05	0	6.059e-05	3.23e-05	5	154602	rs750293004	2.6e-05	2.599e-05	2.178e-05	3.026e-05	0.0019	1.933e-05	1.692e-05	0.0011	0.0008	0	0	0	0	0	0.0019	1.619e-05	8.279e-05	4.638e-05	1.971e-05	1.97e-05	3.854e-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	0.004	0.74150	D	1.0	0.90584	D	0.996	0.84481	D	0.001765	0.38052	N	0.000000	0.998787	0.45440	D	2.83	0.82355	M	1.31	0.35405	T	-2.66	0.56945	D	0.763	0.76666	-0.8559	0.51555	T	0.191	0.54301	T	10	0.8672771	0.85977	D	0.02261	0.45515	T	0.379	0.69696	0.766	0.89373	0.152612264143	0.14878	0.7019937263022875	0.70140	0.206822157952	0.23117	0.635895431042	0.57982	T	0.144355	0.71103	T	0.0451108	0.57712	T	0.00731802	0.70809	D	0.818400144577026	0.47653	D	0.951205	0.81406	D	0.7678928	0.81922	0.7231265	0.83649	0.7678928	0.81923	0.7231265	0.83650	-12.273	0.86155	D	0.5153504568402651	0.58846	0.331	0.59964	B	.;.	.;.	3.376498	0.46681	22.3	0.99847095528898977	0.92663	0.86607	0.45923	D	AEFI	0.386200	0.46665	N	0.446858205013534	0.64025	4.648056	0.365482191569399	0.59446	4.122476	1.15814349726873E-4	0.05269	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.6	2.57	0.29928	1.788000	0.38346	1.160000	0.24546	0.529000	0.24592	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:0.6155:0.0:0.3845	6.742	0.22628	443	0.79878	GPCR, family 2-like;GPCR, family 2-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1209.33	33	chr2	208444824	.	C	G	1209.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.664;DP=727;ExcessHet=0;FS=1.612;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.3;ReadPosRankSum=0.094;SOR=0.51	GT:AD:DP:GQ:PL	0/1:57,50:107:99:1223,0,1526	18	0	1	0
chr2	208450802	208450802	G	C	exonic	PTH2R	.	nonsynonymous SNV	PTH2R:NM_001309516:exon8:c.G574C:p.D192H,PTH2R:NM_001371907:exon8:c.G574C:p.D192H,PTH2R:NM_005048:exon8:c.G907C:p.D303H,PTH2R:NM_001371905:exon9:c.G574C:p.D192H,PTH2R:NM_001371906:exon9:c.G574C:p.D192H	.	429	1091	2	0	0	2	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.383	0.0596253402235	7.7e-05	0.000199681	0.0001	0	0	0	0	0.0002	0	0	0.00011	17	154602	rs201254276	8.278e-05	8.345e-05	6.535e-05	0.0001	0.0005	7.07e-05	6.619e-05	0.0001	7.544e-05	0	8.944e-05	0.0002	0	0	0.0005	9.264e-05	8.28e-05	0	7.879e-05	7.874e-05	0.0001	4.029e-05	0.0001	4.494e-05	3.51e-05	6.804e-05	5.088e-05	2.406e-05	0	6.535e-05	0.0003	0	0	0	0.0001	0	0	0.003	0.68238	D	0.014	0.62352	D	0.961	0.61118	D	0.81	0.64351	P	0.289561	0.14794	N	0.572908	0.999975	0.53665	D	3.045	0.86684	M	1.18	0.37746	T	-4.72	0.79998	D	0.758	0.82862	-0.6541	0.62534	T	0.224	0.58818	T	10	0.6752655	0.70953	D	0.059625	0.67727	D	0.383	0.70029	.	.	0.257292322809	0.25322	0.8045198490595471	0.80405	0.234406508874	0.25976	0.587596833706	0.51155	T	0.081116	0.71849	T	-0.123323	0.32581	T	-0.130208	0.60954	T	0.934759974479675	0.60246	D	0.844715	0.55431	T	0.46239224	0.64819	0.6397587	0.78957	0.46239224	0.64820	0.6397587	0.78958	-13.849	0.92556	D	0.3973369354559582	0.48967	0.741	0.74667	P	.;.	.;.	4.585596	0.72484	25.8	0.99503948911330631	0.68206	0.96814	0.71082	D	AEFI	0.568367	0.57358	D	0.683309298846689	0.78538	6.892069	0.624022339024304	0.76688	6.537436	0.00722943537449644	0.11414	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.86	4.05	0.46415	5.677000	0.67810	7.285000	0.58036	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.820000	0.38637	0.1706:0.0:0.8294:0.0	9.226	0.36566	441	0.80015	GPCR, family 2-like;GPCR, family 2-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	476.33	34	chr2	208450802	.	G	C	476.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.35;DP=668;ExcessHet=0;FS=2.619;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.08;ReadPosRankSum=0.926;SOR=0.368	GT:AD:DP:GQ:PL	0/1:23,20:43:99:490,0,626	18	0	1	0
chr2	215004271	215004271	A	G	exonic	ABCA12	.	nonsynonymous SNV	ABCA12:NM_015657:exon12:c.T1667C:p.V556A,ABCA12:NM_173076:exon20:c.T2621C:p.V874A	Ichthyosis, congenital, autosomal recessive 4A, Autosomal recessive;Ichthyosis, congenital, autosomal recessive 4B (harlequin), Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.427	0.0737757777423	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.624	0.05420	T	0.264	0.22761	T	0.969	0.56768	D	0.48	0.47081	P	0.000041	0.55875	D	0.000000	0.534933	0.31460	N	1.5	0.37844	L	-1.84	0.84195	D	-0.64	0.19297	N	0.511	0.54234	-0.2113	0.77380	T	0.475	0.79842	T	10	0.2671188	0.44221	T	0.073776	0.71874	D	0.427	0.73445	0.422	0.46529	0.731822560003	0.72943	0.5922421896407504	0.59154	0.679748189831	0.59947	0.642065525055	0.58858	T	0.083569	0.37085	T	0.0972591	0.63996	D	-0.0980705	0.63546	T	0.838721990585327	0.49223	D	0.744226	0.36418	T	0.09014683	0.21085	0.14701438	0.34808	0.09014683	0.21085	0.14701438	0.34807	-0.708	0.00727	T	0.2770829490521125	0.37176	0.418	0.62922	A	.;.	.;.	3.286235	0.45050	22.1	0.97706179666014847	0.35465	0.89604	0.50175	D	AEI	0.539057	0.55619	D	0.156681409992603	0.49129	3.116763	0.276727194450039	0.54182	3.584134	0.0122947471479882	0.12307	0.615465	0.37627	0	0.633656	0.55848	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.7	5.7	0.88690	4.279000	0.58747	11.253000	0.90812	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	1.0:0.0:0.0:0.0	14.534	0.67535	904	0.23766	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2855.33	33	chr2	215004271	.	A	G	2855.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.81;DP=839;ExcessHet=0;FS=0.522;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.93;ReadPosRankSum=-2.304;SOR=0.638	GT:AD:DP:GQ:PL	0/1:98,107:205:99:2869,0,2533	18	0	1	0
chr2	219030153	219030153	G	C	exonic	CFAP65	.	nonsynonymous SNV	CFAP65:NM_001278296:exon9:c.C1022G:p.A341G,CFAP65:NM_001278295:exon10:c.C1184G:p.A395G,CFAP65:NM_194302:exon10:c.C1217G:p.A406G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.00369904059859	.	.	0.0001	0.0003	0.0002	0	0	0.0001	0	0	0.0001229	19	154602	rs200260682	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0003	0.0004	0.0004	0.0002	0.0002	0	0	0	0	0.0004	0.0002	0	0.0002	0.0002	0.0002	0.0003	0.0004	0.0002	0.0002	0.0003	0.0002	0.0001	0	0.0003	0	0	0	0	0.0004	0.0009	0	0.369	0.11807	T	0.263	0.45110	T	0.034	0.20480	B	0.026	0.20792	B	0.650350	0.05920	N	1.210680	1	0.08975	N	.	.	.	3.41	0.08194	T	-1.55	0.41428	N	0.248	0.28849	-0.9347	0.43439	T	0.020	0.08220	T	10	0.07880509	0.12605	T	0.003699	0.08558	T	0.047	0.12962	0.422	0.46529	0.119812018005	0.11559	0.3289394323188497	0.32806	0.0848422555487	0.09587	0.251787185669	0.03958	T	0.045449	0.27127	T	-0.55386	0.00276	T	-0.701294	0.05755	T	0.0142529898830175	0.00282	T	0.681532	0.30863	T	0.044008777	0.06961	0.053299602	0.08950	0.044008777	0.06960	0.053299602	0.08950	-5.245	0.39536	T	.	.	0.130	0.27998	B	.;.;.;.	.;.;.;.	1.931638	0.24533	16.43	0.97551338107837893	0.34571	0.13936	0.18133	N	AEFDGBCI	0.167707	0.29441	N	-0.810026022388942	0.13054	0.6404083	-0.798757851078501	0.14526	0.7594025	0.354112794500684	0.19712	0.608966	0.35542	0	0.615948	0.52940	0	0.769059	0.98459	0	0.584449	0.35598	0	.	.	4.94	0.795	0.17786	0.179000	0.16653	2.822000	0.34969	-0.105000	0.15698	0.013000	0.18845	0.997000	0.33255	0.783000	0.37026	0.2156:0.301:0.1958:0.2876	0.481	0.00512	595	0.68488	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1234.33	33	chr2	219030153	.	G	C	1234.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.249;DP=737;ExcessHet=0;FS=2.667;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.73;ReadPosRankSum=0.506;SOR=0.993	GT:AD:DP:GQ:PL	0/1:47,50:97:99:1248,0,1282	18	0	1	0
chr2	219231956	219231956	A	C	exonic	ANKZF1	.	nonsynonymous SNV	ANKZF1:NM_001042410:exon3:c.A177C:p.R59S,ANKZF1:NM_018089:exon3:c.A177C:p.R59S	.	416	1079	25	2	0	29	0.0132602	.	.	.	697336	not_provided|ANKZF1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.081	.	0.0060	0.00778754	0.0089	0.0012	0.0037	0.0001	0.0194	0.0080	0.0122	0.0211	0.0085316	1319	154602	rs13007650	0.0088	0.0088	0.0083	0.0093	0.0220	0.0087	0.0086	0.0211	0.0208	0.0012	0.0045	0.0032	7.557e-05	0.0160	0.0090	0.0083	0.0081	0.0220	0.0068	0.0068	0.0065	0.0072	0.0214	0.0065	0.0064	0.0180	0.0168	0.0015	0	0.0031	0.0032	0.0002	0.0172	0.0068	0.0092	0.0043	0.0214	0.746	0.38633	T	0.731	0.30631	T	0.003	0.11197	B	0.004	0.10090	B	0.271230	0.15123	N	0.699077	0.999995	0.31419	N	1.765	0.45800	L	1.75	0.26152	T	0.59	0.27463	N	0.16	0.16725	-1.0159	0.25045	T	0.032	0.13679	T	10	0.0038906932	0.00074	T	.	.	.	0.081	0.23632	0.291	0.25241	0.579527763308	0.57622	0.22850347717243094	0.22765	0.127213946032	0.14337	0.334729135036	0.15648	T	0.002178	0.12713	T	-0.655606	0.00067	T	-0.697589	0.05958	T	0.00644846666458732	0.00072	T	0.724828	0.35940	T	0.084070094	0.19442	0.05383886	0.09147	0.084070094	0.19442	0.05383886	0.09146	-3.037	0.10585	T	.	.	0.186	0.50536	B	.;.;.;.	.;.;.;.	1.900432	0.24136	16.28	0.92565790712357521	0.22018	0.66865	0.33228	D	AEFDBI	0.111853	0.22131	N	-0.438466859247574	0.24132	1.300918	-0.301788123306998	0.28042	1.560396	0.999954060419991	0.48110	0.732398	0.92422	0	0.662677	0.63036	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.12	3.91	0.44383	0.657000	0.24647	2.695000	0.34117	0.684000	0.82519	0.851000	0.30461	1.000000	0.68203	0.955000	0.50612	0.8146:0.1854:0.0:0.0	9.009	0.35291	550	0.72197	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005035	0.000000	0.002717	0.000000	0.000000	0.000000	0.012195	0.003788	0.02632	1009.33	34	chr2	219231956	.	A	C	1009.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.08;DP=734;ExcessHet=0;FS=0.802;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.34;ReadPosRankSum=-1.183;SOR=0.85	GT:AD:DP:GQ:PL	0/1:50,39:89:99:1023,0,1233	18	0	1	0
chr2	219607057	219607057	G	A	exonic	STK11IP	.	nonsynonymous SNV	STK11IP:NM_052902:exon13:c.G1139A:p.R380Q	.	432	1086	4	0	0	4	0.00183824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.0205672911328	0.0002	.	0.0001	0	0	0	0	0.0002	0	0	8.41e-05	13	154602	rs375742770	6.431e-05	6.43e-05	5.99e-05	6.877e-05	0.0031	5.362e-05	4.977e-05	0.0020	0.0017	2.987e-05	6.708e-05	0	0	0	0.0031	5.486e-05	0.0001	4.637e-05	3.943e-05	3.94e-05	2.569e-05	5.381e-05	6.545e-05	1.716e-05	1.13e-05	1.972e-05	1.124e-05	2.413e-05	0	6.545e-05	0	0	0	0	5.88e-05	0	0	0.037	0.43085	D	0.054	0.47097	T	.	.	.	.	.	.	0.002253	0.36929	N	0.164028	0.661758	0.33059	D	.	.	.	3.32	0.06214	T	-2.08	0.47514	N	0.312	0.35194	-1.0308	0.20195	T	0.025	0.10777	T	10	0.15683737	0.29529	T	0.020567	0.43191	T	0.054	0.15330	.	.	0.0482279557977	0.04254	0.3634899111886708	0.36262	.	.	0.533183336258	0.43484	T	.	.	.	-0.343759	0.05132	T	-0.516228	0.20678	T	0.225494671140713	0.21735	T	0.89741	0.64114	D	0.1064163	0.25162	0.09955482	0.23774	0.1064163	0.25162	0.09955482	0.23773	-7.829	0.59899	D	.	.	0.194	0.41387	B	.	.	5.012775	0.83260	28.0	0.99923548083800218	0.98917	0.82150	0.41422	D	AEFDBI	0.356689	0.44798	N	0.347752106547348	0.58619	4.035482	0.343955500533083	0.58144	3.983344	0.760861287268756	0.23507	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.61	3.73	0.41982	4.634000	0.61023	7.568000	0.60641	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.2041:0.0:0.7959:0.0	6.794	0.22899	147	0.94143	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2250.33	38	chr2	219607057	.	G	A	2250.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.4;DP=909;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.82;ReadPosRankSum=-0.041;SOR=0.677	GT:AD:DP:GQ:PL	0/1:116,92:208:99:2264,0,2791	18	0	1	0
chr2	227363746	227363746	T	G	exonic	TM4SF20	.	nonsynonymous SNV	TM4SF20:NM_024795:exon4:c.A668C:p.K223T	.	433	1043	44	2	0	48	0.022493	.	.	.	1602291	not_provided|TM4SF20-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.120	.	0.0035	0.00539137	0.0076	0.0010	0.0016	0	0.0003	0.0062	0.0088	0.0281	0.0068757	1063	154602	rs137891000	0.0063	0.0063	0.0057	0.0070	0.0280	0.0062	0.0062	0.0271	0.0267	0.0011	0.0029	0.0329	2.519e-05	0.0006	0.0245	0.0046	0.0083	0.0280	0.0046	0.0046	0.0040	0.0052	0.0246	0.0043	0.0042	0.0210	0.0197	0.0007	0	0.0065	0.0354	0	0.0003	0.0136	0.0045	0.0057	0.0246	0.075	0.34444	T	0.032	0.53426	D	0.954	0.54400	P	0.812	0.58704	P	0.180637	0.17112	N	0.601254	1	0.08975	N	2.11	0.58565	M	1.53	0.30401	T	-2.04	0.46842	N	0.177	0.19055	-1.0304	0.20325	T	0.085	0.33269	T	10	0.0039727986	0.00077	T	.	.	.	0.120	0.33359	.	.	0.379881503574	0.37595	0.1257288560982809	0.12498	0.0415005756908	0.04460	0.282254904509	0.07809	T	0.007505	0.06912	T	-0.525279	0.00410	T	-0.506354	0.21690	T	0.0176095059824936	0.00494	T	0.588241	0.21547	T	0.086876065	0.20208	0.092055134	0.21675	0.08487282	0.19664	0.092055134	0.21674	-4.551	0.31550	T	.	.	0.184	0.39865	B	.	.	1.267217	0.16655	12.68	0.99460746838078851	0.65788	0.08078	0.14050	N	AEFBHCI	0.099348	0.20000	N	-0.236041235446511	0.31664	1.777796	-0.409087295706952	0.24730	1.355901	0.999957532355736	0.48110	0.525926	0.21836	0	0.615948	0.52940	0	0.615948	0.41167	0	0.584449	0.35598	0	.	.	5.62	1.98	0.25351	-0.109000	0.10810	0.259000	0.16521	0.665000	0.62972	0.001000	0.13787	0.000000	0.08366	0.836000	0.39433	0.0:0.2599:0.0:0.7401	7.081	0.24410	925	0.17918	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.017623	0.010101	0.012228	0.032164	0.050000	0.000000	0.003049	0.030303	0.05263	2256.83	35	chr2	227363746	.	T	G	2256.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.366;DP=829;ExcessHet=0.119;FS=1.007;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=9.17;ReadPosRankSum=-0.397;SOR=0.615	GT:AD:DP:GQ:PL	0/1:82,50:132:99:1047,0,2140	17	0	2	0
chr2	227366246	227366246	T	C	splicing	TM4SF20	NM_024795:exon3:c.250-2A>G	.	.	.	.	.	.	.	.	.	.	0.9999	0.944	.	3526032	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	3.343e-05	0	0	0	0	6.071e-05	0	0	2.59e-05	4	154602	rs770367143	1.098e-05	1.231e-05	1.639e-05	5.521e-06	2.524e-05	6.5e-06	5.26e-06	3e-07	1.1e-07	0	0	0.0003	2.524e-05	0	0	1.801e-06	4.991e-05	1.175e-05	1.315e-05	1.314e-05	1.285e-05	1.346e-05	.	2.18e-06	8.2e-07	.	.	0	0	0	0.0006	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123351	0.66706	D	0.111866	0.77696	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.259032	0.88304	29.5	0.99225241037378831	0.56026	0.91687	0.54051	D	AEFBI	.	.	.	0.982771929793471	0.95190	13.38998	0.817429193746579	0.90977	10.65944	0.99999985413566	0.74766	0.053691	0.00478	0	0.060609	0.00678	0	0.063197	0.01477	0	0.062806	0.01542	0	0.961844	0.66244	6.03	6.03	0.97798	4.049000	0.57110	7.864000	0.71599	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.927000	0.46353	0.0:0.0:0.0:1.0	12.95	0.57792	937	0.14592	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	933.33	34	chr2	227366246	.	T	C	933.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.77;DP=723;ExcessHet=0;FS=0.931;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.79;ReadPosRankSum=0.791;SOR=0.919	GT:AD:DP:GQ:PL	0/1:34,39:73:99:947,0,859	18	0	1	0
chr2	232525348	232525348	C	A	exonic	PRSS56	.	nonsynonymous SNV	PRSS56:NM_001195129:exon13:c.C1654A:p.P552T,PRSS56:NM_001369848:exon13:c.C1657A:p.P553T	Microphthalmia, isolated 6, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.796106625654	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.249e-07	6.84e-07	0	1.47e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1.1	0.28011	L	.	.	.	.	.	.	0.568	0.59138	.	.	.	.	.	.	.	0.64632744	0.69347	D	0.796107	0.98402	D	.	.	.	.	0.46289702323	0.45912	0.7665545667738595	0.76604	.	.	0.767659306526	0.77075	T	0.066488	0.32958	T	0.173323	0.71427	D	0.0111906	0.71058	D	.	.	.	0.732927	0.34859	T	0.2893043	0.51928	0.53274214	0.73000	0.2893043	0.51928	0.53274214	0.73001	-4.626	0.32497	T	.	.	0.501	0.64631	A	.;.	.;.	4.480325	0.69901	25.4	0.94832156943801549	0.25613	0.96574	0.69822	D	AEFDBCI	0.689583	0.65020	D	.	.	.	.	.	.	0.99999999999507	0.74766	0.095506	0.02484	0	0.059962	0.00310	0	0.104817	0.03109	0	0.079188	0.02158	0	.	.	4.07	4.07	0.46726	4.824000	0.62391	7.418000	0.58694	0.537000	0.25018	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:1.0:0.0:0.0	14.820	0.69696	917	0.20147	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	877.33	35	chr2	232525348	.	C	A	877.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.153;DP=761;ExcessHet=0;FS=5.389;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.39;ReadPosRankSum=-0.401;SOR=0.62	GT:AD:DP:GQ:PL	0/1:26,31:57:99:891,0,739	18	0	1	0
chr3	3026248	3026248	G	A	exonic	CNTN4	.	nonsynonymous SNV	CNTN4:NM_001206956:exon6:c.G649A:p.D217N,CNTN4:NM_175613:exon6:c.G649A:p.D217N,CNTN4:NM_001206955:exon14:c.G1633A:p.D545N,CNTN4:NM_001350095:exon15:c.G1633A:p.D545N,CNTN4:NM_175607:exon15:c.G1633A:p.D545N	.	425	1092	5	0	0	5	0.00228415	.	.	.	3304740	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.205	0.0103259651431	7.7e-05	.	0.0001	0	0	0	0	0.0001	0.0011	0.0003	8.41e-05	13	154602	rs368264759	4.722e-05	4.72e-05	4.494e-05	4.953e-05	0.0009	3.795e-05	3.477e-05	0.0003	0.0002	2.991e-05	0	0	0	5.617e-05	0.0009	3.599e-05	0.0002	0.0001	3.286e-05	3.283e-05	5.14e-05	1.345e-05	0.0002	1.261e-05	7.98e-06	7.99e-06	2.99e-06	4.824e-05	0	0	0	0	0	0	1.47e-05	0.0005	0.0002	0.042	0.41637	D	0.08	0.41913	T	0.425	0.35474	B	0.243	0.38752	B	0.000025	0.55875	D	0.118791	0.999906	0.50806	D	1.59	0.40313	L	2.89	0.10196	T	-1.38	0.36586	N	0.133	0.15469	-1.1229	0.02156	T	0.045	0.19152	T	10	0.18938318	0.34535	T	0.010326	0.26741	T	0.205	0.49236	.	.	0.568696542634	0.56534	0.4325700884373079	0.43174	0.132844441926	0.14965	0.508112490177	0.39958	T	0.092648	0.39047	T	-0.481643	0.00723	T	-0.655324	0.08585	T	0.0693639666146607	0.08561	T	0.843416	0.52040	T	0.160166	0.35940	0.17749494	0.40355	0.160166	0.35939	0.17749494	0.40354	-5.431	0.41217	T	.	.	0.226	0.45978	B	.;.;.;.	.;.;.;.	4.549083	0.71574	25.7	0.99840422943859841	0.92057	0.93246	0.57707	D	AEFBI	0.715292	0.66750	D	0.162132739390374	0.49387	3.139743	0.24545186515685	0.52389	3.414218	0.985140240707029	0.30836	0.516011	0.20929	0	0.610034	0.51514	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.99	4.99	0.65942	5.706000	0.68016	11.706000	0.94575	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.882000	0.42233	0.0:0.0:1.0:0.0	18.279	0.90032	963	0.08280	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1635.33	33	chr3	3026248	.	G	A	1635.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.448;DP=766;ExcessHet=0;FS=4.555;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.78;ReadPosRankSum=0.196;SOR=1.147	GT:AD:DP:GQ:PL	0/1:66,62:128:99:1649,0,1763	18	0	1	0
chr3	11018654	11018654	A	G	exonic	SLC6A1	.	nonsynonymous SNV	SLC6A1:NM_001348250:exon5:c.A427G:p.I143V,SLC6A1:NM_001348251:exon5:c.A67G:p.I23V,SLC6A1:NM_003042:exon5:c.A427G:p.I143V	Myoclonic-atonic epilepsy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.501	0.0235481953059	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.277	0.15665	T	0.325	0.18846	T	0.999	0.77913	D	0.997	0.86255	D	0.000001	0.84330	D	0.000000	1	0.81001	D	1.54	0.38927	L	-0.97	0.75670	T	-0.42	0.14193	N	0.431	0.47022	-0.2256	0.77003	T	0.446	0.78203	T	10	0.73895884	0.74820	D	0.023548	0.46515	T	0.501	0.78413	0.651	0.78858	0.699533008514	0.69693	0.7291083010060595	0.72855	1.36049371721	0.84323	0.85450553894	0.90293	D	0.152024	0.49223	T	0.0609312	0.59730	T	-0.150253	0.59221	T	0.949715793132782	0.63174	D	0.921708	0.71584	D	0.18418859	0.39723	0.1642013	0.38051	0.18418859	0.39722	0.1642013	0.38050	-4.846	0.35123	T	0.10910972120441913	0.09074	0.235	0.59080	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.575085	0.72214	25.8	0.99820221140467402	0.90326	0.98607	0.84635	D	AEFDBI	0.949265	0.96174	D	0.592272280113979	0.72691	5.845828	0.595767375292205	0.74636	6.170868	0.999999727637841	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.59	4.59	0.56297	7.385000	0.79030	11.280000	0.91702	0.688000	0.82842	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	14.420	0.66752	958	0.09170	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1818	277.31	105	chr3	11018654	.	A	G	277.31	.	AC=4;AF=0.182;AN=22;BaseQRankSum=-3.101;DP=1834;ExcessHet=0.7564;FS=172.536;InbreedingCoeff=-0.2748;MLEAC=6;MLEAF=0.273;MQ=60;MQRankSum=0;QD=0.53;ReadPosRankSum=1.95;SOR=9	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:123,39:162:29:.:.:29,0,2495:.	7	0	4	8
chr3	15003967	15003967	C	G	exonic	NR2C2	.	nonsynonymous SNV	NR2C2:NM_001291694:exon2:c.C53G:p.A18G,NR2C2:NM_003298:exon2:c.C53G:p.A18G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.348	0.0295345532005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.189e-05	0.0009	5.651e-05	4.724e-05	5.923e-05	4.24e-05	3.867e-05	4.761e-05	4.337e-05	3.02e-05	0	3.857e-05	2.528e-05	0	0	5.923e-05	6.69e-05	3.495e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.42199	T	0.088	0.63109	T	0.0	0.02946	B	0.0	0.01387	B	0.002953	0.35672	N	0.313188	0.869993	0.35545	D	-0.14	0.04484	N	-3.3	0.93787	D	-1.5	0.68764	N	0.324	0.36464	0.217	0.86200	D	0.665	0.88392	D	10	0.1999422	0.36022	T	0.029535	0.52028	D	0.348	0.66956	0.082	0.00727	0.202312658747	0.19855	0.13027040555393532	0.12952	0.343984992891	0.36322	0.632090747356	0.57442	T	0.163841	0.50907	T	0.0950387	0.63753	D	-0.10126	0.63300	T	0.647998213768005	0.38376	D	0.841416	0.51891	T	0.14685042	0.33598	0.112335265	0.27105	0.14685042	0.33597	0.112335265	0.27104	-2.954	0.13971	T	.	.	0.074	0.62122	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.397345	0.47066	22.4	0.98891559513655258	0.48019	0.95884	0.66568	D	AEFBI	0.571784	0.57563	D	-0.0193053131226323	0.40981	2.443305	0.183621717806624	0.48950	3.104215	0.999976298748313	0.50053	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.31	5.31	0.75063	4.784000	0.62103	7.643000	0.63297	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.577	0.91115	588	0.69043	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2895	3183.21	214	chr3	15003967	.	C	G	3183.21	.	AC=11;AF=0.289;AN=38;BaseQRankSum=-4.939;DP=3774;ExcessHet=8.9063;FS=188.233;InbreedingCoeff=-0.4074;MLEAC=11;MLEAF=0.289;MQ=60;MQRankSum=0;QD=1.4;ReadPosRankSum=1.07;SOR=13.139	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:130,61:191:99:.:.:710,0,3518:.	8	0	11	0
chr3	15074864	15074864	C	T	exonic	RBSN	.	nonsynonymous SNV	RBSN:NM_001302378:exon13:c.G1273A:p.G425R,RBSN:NM_022340:exon14:c.G1273A:p.G425R	.	426	1062	33	1	0	35	0.0162112	.	.	.	166150	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.197	0.195434023651	0.0036	0.00259585	0.0055	0.0007	0.0010	0	0.0070	0.0072	0.0067	0.0071	0.0052069	805	154602	rs144008665	0.0054	0.0054	0.0052	0.0056	0.0130	0.0053	0.0052	0.0106	0.0098	0.0005	0.0012	0.0003	7.557e-05	0.0074	0.0130	0.0057	0.0048	0.0076	0.0040	0.0040	0.0036	0.0045	0.0070	0.0038	0.0037	0.0055	0.0053	0.0008	0	0.0031	0.0003	0.0002	0.0077	0.0068	0.0060	0.0043	0.0070	0.028	0.46129	D	0.008	0.67890	D	0.979	0.59044	D	0.551	0.49270	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.62	0.76659	M	0.49	0.55775	T	-2.54	0.55025	D	0.736	0.79792	-0.7383	0.58540	T	0.169	0.50842	T	10	0.0075536966	0.00172	T	0.195434	0.86421	D	0.197	0.47942	0.322	0.30226	0.52891208781	0.52539	0.5606232059612715	0.55989	1.243952825	0.81618	0.664383888245	0.62036	T	0.090354	0.38568	T	-0.214009	0.18817	T	-0.0760405	0.65192	T	0.0545332893113079	0.06279	T	0.854215	0.54045	D	0.2833947	0.51372	0.25550038	0.51234	0.2833947	0.51372	0.25550038	0.51233	-4.542	0.31434	T	.	.	0.297	0.52945	B	.;.	.;.	4.122498	0.61634	24.4	0.99931917575123164	0.99439	0.98708	0.85845	D	AEFDBCI	0.896546	0.83774	D	0.584265364167002	0.72193	5.767207	0.609250153351065	0.75613	6.341222	0.999999996829047	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.8	5.8	0.92081	7.563000	0.81293	7.675000	0.64997	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.923000	0.45890	0.0:1.0:0.0:0.0	20.049	0.97617	489	0.76795	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006042	0.010101	0.001359	0.011696	0.000000	0.008621	0.009146	0.011364	0.05263	3064.83	39	chr3	15074864	.	C	T	3064.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.39;DP=866;ExcessHet=0.119;FS=2.554;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.06;ReadPosRankSum=1.24;SOR=0.899	GT:AD:DP:GQ:PL	0/1:54,55:109:99:1585,0,1320	17	0	2	0
chr3	37324636	37324636	G	T	exonic	GOLGA4	.	nonsynonymous SNV	GOLGA4:NM_002078:exon14:c.G2750T:p.R917I,GOLGA4:NM_001172713:exon15:c.G2816T:p.R939I	.	.	.	.	.	.	.	.	.	.	.	2202253	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.075	0.0239467717682	.	.	4.214e-05	0	0	0	0	0	0	0.0003	3.23e-05	5	154602	rs770506566	3.355e-05	3.42e-05	1.499e-05	5.23e-05	0.0005	2.568e-05	2.314e-05	0.0004	0.0004	0	0	0	0	0	0	2.7e-06	1.657e-05	0.0005	3.285e-05	3.281e-05	1.285e-05	5.377e-05	0.0008	1.261e-05	7.98e-06	0.0003	0.0002	0	0	0	0	0	0	0.0034	0	0	0.0008	0.003	0.72154	D	0.022	0.67890	D	0.498	0.37115	P	0.216	0.37572	B	0.004231	0.33968	N	0.000000	0.946117	0.81001	D	2.28	0.64929	M	1.86	0.24472	T	-3.0	0.74504	D	0.409	0.44952	-1.0990	0.04214	T	0.048	0.20355	T	10	0.09321493	0.16477	T	0.023947	0.46930	T	0.075	0.21907	0.316	0.29258	0.36076525451	0.35686	0.03921464561633683	0.03867	0.245424699257	0.27071	0.281022787094	0.07634	T	0.07847	0.42369	T	-0.309883	0.07758	T	-0.372384	0.36609	T	0.280240075798357	0.24182	T	0.943606	0.78679	D	0.13755943	0.31846	0.21701416	0.46350	0.13755943	0.31846	0.21701416	0.46349	-4.021	0.24117	T	.	.	0.160	0.35705	B	.;.;.;.	.;.;.;.	1.366996	0.17764	13.36	0.96853825041790009	0.31354	0.88247	0.48090	D	AEFBI	0.640497	0.61817	D	-0.492674067845463	0.22320	1.191013	-0.477696430446102	0.22769	1.238367	0.999404204629053	0.39524	0.722319	0.85440	0	0.698795	0.70079	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.05	-0.687	0.10751	1.420000	0.34411	0.770000	0.21388	-0.758000	0.03527	1.000000	0.71638	0.998000	0.33993	0.926000	0.46234	0.5975:0.179:0.2235:0.0	5.038	0.13783	229	0.91079	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	1363.33	35	chr3	37324636	.	G	T	1363.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.697;DP=745;ExcessHet=0;FS=0.707;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.28;ReadPosRankSum=-0.953;SOR=0.808	GT:AD:DP:GQ:PL	0/1:57,54:111:99:1377,0,1524	18	0	1	0
chr3	42202465	42202465	C	T	exonic	TRAK1	.	nonsynonymous SNV	TRAK1:NM_001265609:exon12:c.C1235T:p.T412M,TRAK1:NM_001265610:exon12:c.C1235T:p.T412M,TRAK1:NM_001349248:exon12:c.C1235T:p.T412M,TRAK1:NM_001349249:exon12:c.C1235T:p.T412M,TRAK1:NM_014965:exon12:c.C1283T:p.T428M,TRAK1:NM_001042646:exon13:c.C1457T:p.T486M,TRAK1:NM_001265608:exon13:c.C1457T:p.T486M,TRAK1:NM_001349245:exon13:c.C1145T:p.T382M,TRAK1:NM_001349246:exon13:c.C1457T:p.T486M,TRAK1:NM_001349247:exon13:c.C1457T:p.T486M	.	427	1091	4	0	0	4	0.00182983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.208	0.0245243764735	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs536156969	1.948e-05	2.052e-05	1.755e-05	2.151e-05	0.0018	1.355e-05	1.151e-05	0.0008	0.0006	3.385e-05	0	5.209e-05	0	0	0.0018	4.775e-06	3.662e-05	0.0002	4.596e-05	4.593e-05	1.285e-05	8.056e-05	0.0004	2.108e-05	1.526e-05	6.847e-05	2.865e-05	0	0	0.0001	0	0.0004	0	0	4.41e-05	0	0	0.114	0.39334	T	0.11	0.43721	T	1.0	0.90584	D	0.987	0.88582	D	0.000000	0.84330	D	0.000000	0.998	0.43943	D	2.215	0.62545	M	0.8	0.48769	T	-0.75	0.26843	N	0.633	0.68690	-0.7141	0.59751	T	0.256	0.62620	T	10	0.27059925	0.44592	T	0.024524	0.47518	T	0.208	0.49714	0.114	0.02306	0.819614843764	0.81791	0.5888162179159341	0.58811	0.920855412777	0.71446	0.635645568371	0.57946	T	0.071018	0.43822	T	-0.053028	0.43986	T	-0.128675	0.61084	T	0.776523530483246	0.44835	D	0.879712	0.65680	D	0.10844947	0.25642	0.11711628	0.28273	0.10844947	0.25642	0.11711628	0.28273	-9.583	0.84724	D	.	.	0.078	0.13268	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.079357	0.84758	28.4	0.99888980182896869	0.96359	0.98739	0.86233	D	AEFDBI	0.523326	0.54697	D	0.670879349378651	0.77723	6.73027	0.693478591298929	0.81884	7.632047	0.999999893884243	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.95	5.95	0.96415	5.907000	0.69646	5.927000	0.51257	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.906000	0.44173	0.0:1.0:0.0:0.0	19.381	0.94526	688	0.59122	Trafficking kinesin-binding protein domain;Trafficking kinesin-binding protein domain;Trafficking kinesin-binding protein domain;.;Trafficking kinesin-binding protein domain;.;Trafficking kinesin-binding protein domain;Trafficking kinesin-binding protein domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2383.33	91	chr3	42202465	.	C	T	2383.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.73;DP=1036;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.68;ReadPosRankSum=-0.004;SOR=0.717	GT:AD:DP:GQ:PL	0/1:109,95:204:99:2397,0,2657	18	0	1	0
chr3	42502805	42502805	G	C	exonic	VIPR1	.	nonsynonymous SNV	VIPR1:NM_001251884:exon1:c.G35C:p.W12S,VIPR1:NM_004624:exon1:c.G70C:p.G24R	.	2	223	1	0	0	1	0.00223714	.	.	.	3929645	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.023	0.0533436385292	.	.	0	.	.	.	.	0	.	0	3.84e-05	1	26028	rs765645789	4.393e-05	6.909e-05	4.633e-05	4.13e-05	0.0014	3.362e-05	3.029e-05	0.0011	0.0009	4.341e-05	0	0	0	0	0	0	0.0001	0.0014	3.942e-05	3.938e-05	2.571e-05	5.375e-05	0.0012	1.715e-05	1.129e-05	0.0005	0.0004	0	0	0	0	0	0	0	0	0	0.0012	0.155	0.24183	T	0.075	0.42794	T	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.21009	N	.	.	.	0.84	0.47477	T	-0.16	0.09460	N	0.16	0.16725	-1.0026	0.29168	T	0.039	0.16677	T	9	0.03774804	0.02148	T	0.053344	0.65431	D	0.035	0.08770	0.579	0.70476	0.225215365344	0.22153	0.32451825547543905	0.32364	0.103416740195	0.11694	0.682860374451	0.64680	T	0.139416	0.47342	T	-0.204645	0.20139	T	-0.531735	0.19113	T	0.0353313740206733	0.02865	T	0.578142	0.20837	T	0.051326316	0.09410	0.059804842	0.11287	0.051326316	0.09410	0.059804842	0.11286	-3.94	0.22903	T	.	.	0.223	0.45396	B	.;.	.;.	0.999123	0.13776	10.32	0.63182828108481648	0.07156	0.08756	0.14638	N	AEFDBHCI	0.069529	0.13765	N	-1.42774742561413	0.02397	0.1058234	-1.42527525840742	0.03001	0.1391771	0.999999996924712	0.74766	0.56387	0.32371	0	0.552344	0.17405	0	0.503968	0.08637	0	0.554799	0.18163	0	.	.	3.88	-1.79	0.07504	0.150000	0.16082	1.149000	0.24466	-0.178000	0.10482	0.177000	0.24026	0.780000	0.26771	0.224000	0.22571	0.2577:0.2923:0.4501:0.0	4.969	0.13454	809	0.43032	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02778	65.23	2	chr3	42502805	.	G	C	65.23	.	AC=1;AF=0.028;AN=36;BaseQRankSum=0;DP=118;ExcessHet=0;FS=0;InbreedingCoeff=-0.0592;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=16.31;ReadPosRankSum=0;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:2,2:4:78:0|1:42502805_G_C:78,0,78:42502805	17	0	1	1
chr3	42502806	42502806	G	T	exonic	VIPR1	.	nonsynonymous SNV	VIPR1:NM_001251884:exon1:c.G36T:p.W12C,VIPR1:NM_004624:exon1:c.G71T:p.G24V	.	2	223	1	0	0	1	0.00223714	.	.	.	3929646	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.072	0.258486533311	.	.	0	.	.	.	.	0	.	0	3.84e-05	1	26028	rs750829637	4.573e-05	7.935e-05	4.805e-05	4.318e-05	0.0015	3.534e-05	3.195e-05	0.0011	0.0010	0	0	0	0	0	0	0	0.0001	0.0015	5.255e-05	5.25e-05	2.57e-05	8.063e-05	0.0017	2.557e-05	1.83e-05	0.0008	0.0006	0	0	0	0	0	0	0	0	0	0.0017	0.242	0.17584	T	0.013	0.63109	D	0.281	0.32101	B	0.077	0.28532	B	.	.	.	.	0.999997	0.23342	N	.	.	.	0.84	0.47477	T	0.08	0.06026	N	0.198	0.21839	-1.0385	0.17771	T	0.061	0.25346	T	9	0.07235536	0.10790	T	0.258487	0.89410	D	0.114	0.32008	0.535	0.64439	0.350088858571	0.34617	0.3282892880108024	0.32741	0.177515370142	0.19969	0.653833150864	0.60530	T	0.149214	0.48812	T	-0.130626	0.31395	T	-0.425412	0.30456	T	0.158363953511287	0.17750	T	0.586841	0.21439	T	0.07024234	0.15454	0.09196498	0.21649	0.07024234	0.15453	0.09196498	0.21649	-4.49	0.30757	T	.	.	0.122	0.25592	B	.;.	.;.	2.518550	0.32539	19.07	0.76021053930178317	0.11302	0.30437	0.24082	N	AEFDBHCI	0.186764	0.31407	N	-0.632204089108521	0.17983	0.9299757	-0.607957250085612	0.19288	1.034198	0.999999999161873	0.74766	0.56387	0.32371	0	0.552344	0.17405	0	0.503968	0.08637	0	0.554799	0.18163	0	.	.	3.88	2.89	0.32713	2.755000	0.47219	5.275000	0.48164	0.654000	0.53741	0.236000	0.24706	0.999000	0.35428	0.202000	0.21954	0.0:0.2365:0.7635:0.0	8.615	0.32990	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	65.2	2	chr3	42502806	.	G	T	65.2	.	AC=1;AF=0.028;AN=36;BaseQRankSum=0;DP=119;ExcessHet=0;FS=0;InbreedingCoeff=-0.0578;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=16.3;ReadPosRankSum=0;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:2,2:4:78:0|1:42502805_G_C:78,0,78:42502805	17	0	1	1
chr3	43691018	43691018	A	G	exonic	ABHD5	.	nonsynonymous SNV	ABHD5:NM_001355186:exon1:c.A26G:p.D9G,ABHD5:NM_001365650:exon1:c.A26G:p.D9G,ABHD5:NM_016006:exon1:c.A26G:p.D9G	Chanarin-Dorfman syndrome, Autosomal recessive	1	1507	14	0	0	14	0.00462351	.	.	.	290374	Inborn_genetic_diseases|not_provided|Triglyceride_storage_disease_with_ichthyosis|ABHD5-related_disorder	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0010155,MedGen:C0268238,OMIM:275630,Orphanet:98907|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.303	0.190875716616	0.0004	0.00139776	0.0008	0.0001	9.381e-05	0	0	0.0005	0.0068	0.0034	0.000705	109	154602	rs144420157	0.0006	0.0006	0.0005	0.0008	0.0040	0.0006	0.0006	0.0037	0.0035	6.85e-05	5.104e-05	0	0	3.978e-05	0.0036	0.0004	0.0009	0.0040	0.0004	0.0004	0.0003	0.0006	0.0027	0.0003	0.0003	0.0016	0.0013	0.0001	0	0.0001	0	0	0	0.0034	0.0006	0.0014	0.0027	0.073	0.34800	T	0.221	0.25827	T	0.039	0.21116	B	0.01	0.14941	B	0.169348	0.03098	N	1.607600	0.999914	0.19599	N	0.805	0.20218	L	-1.09	0.77206	T	-0.53	0.16393	N	0.265	0.30004	-0.8406	0.52607	T	0.276	0.64804	T	10	0.007172376	0.00163	T	0.190876	0.86150	D	0.303	0.62400	.	.	0.707991828018	0.70544	0.5032814447181239	0.50250	0.194151377078	0.21749	0.688348174095	0.65468	T	0.177016	0.52716	T	-0.231002	0.16518	T	-0.105433	0.62973	T	0.00758662155697759	0.00088	T	0.553645	0.19140	T	0.143814	0.33037	0.21795222	0.46480	0.143814	0.33037	0.21795222	0.46479	-2.501	0.05788	T	.	.	0.067	0.04640	B	.;.	.;.	2.543447	0.32903	19.18	0.80954980608822802	0.13449	0.47895	0.28085	N	ALL	0.116016	0.22787	N	-0.800202490282737	0.13305	0.6545094	-0.813694365021125	0.14164	0.7386812	0.999999999999999	0.74766	0.266657	0.04791	1	0.218748	0.04544	0	0.519653	0.09787	0	0.372554	0.06265	0	.	.	3.02	1.81	0.24139	0.368000	0.20132	5.361000	0.48400	0.752000	0.88150	0.003000	0.16062	1.000000	0.68203	0.012000	0.09680	0.7377:0.2623:0.0:0.0	6.168	0.19617	716	0.55970	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005595	0.005208	0.005435	0.008772	0.000000	0.017241	0.006289	0.000000	0.02632	493.33	27	chr3	43691018	.	A	G	493.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.638;DP=664;ExcessHet=0;FS=6.978;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=-0.07;SOR=0.683	GT:AD:DP:GQ:PL	0/1:18,21:39:99:507,0,690	18	0	1	0
chr3	45901062	45901062	A	G	exonic	CCR9	.	nonsynonymous SNV	CCR9:NM_006641:exon2:c.A238G:p.I80V,CCR9:NM_031200:exon3:c.A274G:p.I92V,CCR9:NM_001256369:exon4:c.A238G:p.I80V	.	427	1092	3	0	0	3	0.00137174	.	.	.	3886561	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.112	0.00614475366822	0.0068	0.00259585	0.0055	0.0024	0.0017	0	0.0068	0.0079	0.0077	0.0027	0.0055239	854	154602	rs45530037	0.0092	0.0092	0.0095	0.0089	0.0108	0.0091	0.0090	0.0107	0.0106	0.0014	0.0024	0.0010	0	0.0070	0.0040	0.0108	0.0103	0.0023	0.0057	0.0057	0.0059	0.0055	0.0093	0.0054	0.0052	0.0087	0.0085	0.0021	0	0.0022	0.0009	0	0.0089	0	0.0093	0.0033	0.0015	1.0	0.00964	T	1.0	0.01155	T	0.002	0.09854	B	0.02	0.19048	B	0.001934	0.37643	N	0.232817	0.93754	0.26887	N	0.565	0.15224	N	1.24	0.36691	T	-0.2	0.10136	N	0.104	0.09066	-1.0491	0.14649	T	0.034	0.14726	T	10	0.012058288	0.00261	T	0.006145	0.16082	T	0.112	0.31546	.	.	0.361758802978	0.35793	0.06370158300519942	0.06309	0.285566892373	0.30966	0.328147530556	0.14655	T	0.044316	0.26777	T	-0.521563	0.00431	T	-0.510935	0.21219	T	0.0164667113502253	0.00411	T	0.359964	0.08281	T	0.113918446	0.26900	0.07492517	0.16441	0.113918446	0.26900	0.07492517	0.16441	-3.125	0.11586	T	.	.	0.059	0.01884	B	.;.;.	.;.;.	1.153078	0.15411	11.83	0.53530439740931968	0.04958	0.65096	0.32623	D	AEFBI	0.300494	0.40926	N	-0.837704199620552	0.12354	0.601697	-0.772411541023031	0.15173	0.7966424	0.999841289609368	0.43971	0.706298	0.61202	0	0.709663	0.81188	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.96	2.53	0.29594	4.140000	0.57795	1.051000	0.23638	0.756000	0.94297	1.000000	0.71638	0.020000	0.20764	0.618000	0.31844	0.7247:0.0:0.1464:0.1289	5.497	0.16100	484	0.77165	.;GPCR, rhodopsin-like, 7TM;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.007576	0.02632	2343.33	34	chr3	45901062	.	A	G	2343.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.963;DP=827;ExcessHet=0;FS=5.043;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=0.515;SOR=0.745	GT:AD:DP:GQ:PL	0/1:111,85:196:99:2357,0,3111	18	0	1	0
chr3	46373903	46373903	G	A	exonic	CCR5	.	nonsynonymous SNV	CCR5:NM_000579:exon3:c.G1001A:p.R334Q,CCR5:NM_001100168:exon3:c.G1001A:p.R334Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.213	0.0378352214141	.	.	2.578e-05	0	0	0	0	4.586e-05	0	0	1.94e-05	3	154602	rs764318467	2.198e-05	2.257e-05	1.912e-05	2.487e-05	0.0002	1.59e-05	1.361e-05	9.783e-05	6.972e-05	0.0002	9.031e-05	0	0.0001	0	0	9.021e-06	6.649e-05	2.342e-05	4.597e-05	4.593e-05	3.855e-05	5.372e-05	0.0002	2.108e-05	1.526e-05	3.243e-05	1.911e-05	9.625e-05	0	6.532e-05	0	0.0002	0	0	0	0.0005	0	0.001	0.78490	D	0.136	0.34009	T	0.799	0.44910	P	0.161	0.34794	B	0.390051	0.04472	U	1.687520	0.999966	0.18878	N	3.475	0.92503	M	1.22	0.37052	T	-2.88	0.60507	D	0.189	0.30233	-0.8621	0.51111	T	0.151	0.47997	T	10	0.10455492	0.19281	T	0.037835	0.57860	D	0.213	0.50496	0.417	0.45709	0.54823119731	0.54479	0.4613755258366227	0.46055	.	.	0.268115460873	0.05897	T	0.252003	0.62232	T	-0.249037	0.14216	T	-0.299309	0.44799	T	0.161254356293566	0.17963	T	0.936606	0.76191	D	0.169689	0.37500	0.31709328	0.57686	0.169689	0.37500	0.31709328	0.57685	-4.449	0.30216	T	.	.	0.096	0.15430	B	.;.	.;.	2.676609	0.34910	19.76	0.9979857971867836	0.88372	0.45578	0.27570	N	AEFBCI	0.231806	0.35498	N	-0.140451393842778	0.35641	2.049851	-0.286486203048774	0.28543	1.592288	0.99993894008345	0.46732	0.446893	0.09132	0	0.457222	0.06608	2	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.47	3.65	0.40985	2.460000	0.44689	2.363000	0.32383	0.676000	0.76740	0.106000	0.22914	0.051000	0.21832	0.036000	0.13842	0.0752:0.1413:0.7836:0.0	9.617	0.38863	426	0.81110	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3357.33	34	chr3	46373903	.	G	A	3357.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.56;DP=864;ExcessHet=0;FS=3.001;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.19;ReadPosRankSum=0.486;SOR=0.525	GT:AD:DP:GQ:PL	0/1:98,123:221:99:3371,0,2375	18	0	1	0
chr3	48536348	48536348	G	A	exonic	PFKFB4	.	nonsynonymous SNV	PFKFB4:NM_001317135:exon8:c.C748T:p.R250C,PFKFB4:NM_001317136:exon8:c.C715T:p.R239C,PFKFB4:NM_001317137:exon8:c.C748T:p.R250C,PFKFB4:NM_004567:exon8:c.C748T:p.R250C,PFKFB4:NM_001317134:exon9:c.C835T:p.R279C,PFKFB4:NM_001317138:exon9:c.C175T:p.R59C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.530	0.0248992983901	.	.	2.473e-05	0	0	0.0001	0	1.5e-05	0	6.057e-05	2.59e-05	4	154602	rs142200739	3.626e-05	3.625e-05	3.948e-05	3.3e-05	0.0002	2.828e-05	2.565e-05	9.928e-05	7.224e-05	0	0	0	0.0002	0	0	3.687e-05	1.656e-05	3.478e-05	1.97e-05	1.968e-05	2.57e-05	1.342e-05	0.0002	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0.0002	0	0	2.94e-05	0	0	0.0	0.91255	D	0.01	0.92824	D	1.0	0.90584	D	0.998	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.06	0.56677	M	.	.	.	-7.0	0.94511	D	0.923	0.92667	-0.4411	0.70693	T	0.311	0.68139	T	9	0.86300075	0.85529	D	0.024899	0.47884	T	0.530	0.80188	0.729	0.86286	0.67932339552	0.67659	0.7876701208185184	0.78719	1.59857585291	0.88656	0.902643322945	0.96727	D	0.572796	0.85883	D	0.321713	0.84591	D	0.39347	0.91899	D	0.997195363044739	0.90986	D	0.980002	0.93225	D	0.8145725	0.84856	0.5678452	0.74982	0.8145725	0.84857	0.5678452	0.74983	-10.874	0.78962	D	.	.	0.745	0.77480	P	.;.;.;.	.;.;.;.	6.293406	0.94960	34	0.99914261594407516	0.98309	0.97631	0.76028	D	AEFGBI	0.932167	0.92210	D	0.562341856945152	0.70838	5.560522	0.510756788544315	0.68712	5.258207	0.999999822688134	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.567892	0.33627	0	.	.	4.43	3.54	0.39650	6.775000	0.74812	11.808000	0.96852	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:0.824:0.176	11.841	0.51628	14	0.98855	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1254.33	33	chr3	48536348	.	G	A	1254.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.04;DP=736;ExcessHet=0;FS=4.782;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.4;ReadPosRankSum=0.051;SOR=1.207	GT:AD:DP:GQ:PL	0/1:63,47:110:99:1268,0,1586	18	0	1	0
chr3	52778000	52778000	C	T	exonic	ITIH1	.	stopgain	ITIH1:NM_002215:exon2:c.C121T:p.R41X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.647e-05	0	0	0	0	1.498e-05	0	6.056e-05	1.29e-05	2	154602	rs759052053	1.163e-05	1.163e-05	9.529e-06	1.375e-05	6.708e-05	7.08e-06	5.79e-06	2.194e-05	1.43e-05	5.974e-05	6.708e-05	0	0	0	0	5.396e-06	1.656e-05	5.797e-05	2.628e-05	2.627e-05	1.285e-05	4.035e-05	4.41e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	2.412e-05	0	0	0	0	0	0	4.41e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.479638	0.12181	N	0.689972	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.12	0.11054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.367562	0.87843	D	0.466048	0.93926	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	10.832989	0.99858	50	0.9951710766455043	0.68979	0.58888	0.30764	D	AEFBCI	0.546775	0.56074	D	0.478542776318965	0.65840	4.873178	0.282902854119632	0.54541	3.618775	0.989218988377739	0.31756	0.497415	0.19182	0	0.547309	0.14657	0	0.315538	0.05692	2	0.542086	0.14980	0	.	.	4.88	0.773	0.17660	1.253000	0.32488	2.094000	0.30565	0.599000	0.40250	1.000000	0.71638	0.857000	0.27449	0.997000	0.79791	0.3864:0.4398:0.0:0.1738	4.276	0.10255	32	0.98147	VIT domain|VIT domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2226.33	33	chr3	52778000	.	C	T	2226.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.13;DP=812;ExcessHet=0;FS=1.826;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.17;ReadPosRankSum=-0.848;SOR=0.867	GT:AD:DP:GQ:PL	0/1:95,88:183:99:2240,0,2286	18	0	1	0
chr3	75730451	75730451	T	G	exonic	ZNF717	.	stoploss	ZNF717:NM_001324027:exon7:c.A2396C:p.X799S	.	432	314	768	8	0	784	0.555241	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs75952318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	47576.4	207	chr3	75730451	.	T	G	47576.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-2.127;DP=2663;ExcessHet=48.2876;FS=6.146;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=54.47;MQRankSum=-6.987;QD=18.24;ReadPosRankSum=0.373;SOR=0.4	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:60,14:74:99:0|1:75730450_C_T:407,0,2477:75730450	0	0	19	0
chr3	75736884	75736884	-	A	exonic	ZNF717	.	stoploss	ZNF717:NM_001128223:exon5:c.2738dupT:p.*915delinsLNTQPTPLWLLLQISPCSV*,ZNF717:NM_001290208:exon5:c.2738dupT:p.*915delinsLNTQPTPLWLLLQISPCSV*,ZNF717:NM_001290209:exon5:c.2588dupT:p.*865delinsLNTQPTPLWLLLQISPCSV*	.	408	790	324	0	0	324	0.170168	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0673505	1753	26028	rs149076283	2.008e-05	1.984e-05	1.697e-05	2.328e-05	2.801e-05	1.393e-05	1.199e-05	1.594e-05	1.347e-05	0	0	0	2.801e-05	0	0	2.322e-05	1.729e-05	1.281e-05	1.313e-05	1.312e-05	2.569e-05	0	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4211	10260.0	245	chr3	75736884	.	G	GA	10260.0	.	AC=16;AF=0.421;AN=38;BaseQRankSum=0.122;DP=2735;ExcessHet=25.4433;FS=3.097;InbreedingCoeff=-0.7273;MLEAC=16;MLEAF=0.421;MQ=56.86;MQRankSum=-7.226;QD=4.72;ReadPosRankSum=0.758;SOR=0.492	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:74,12:86:90:.:.:90,0,2823:.	3	0	16	0
chr3	75736891	75736891	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C2732T:p.S911F,ZNF717:NM_001290208:exon5:c.C2732T:p.S911F,ZNF717:NM_001290209:exon5:c.C2582T:p.S861F	.	413	564	544	0	1	545	0.325359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.00165921998894	.	.	.	.	.	.	.	.	.	.	0.0107192	279	26028	rs77747132	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.42783	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.22	0.07024	T	-1.16	0.29727	N	0.094	0.07398	-0.9320	0.43844	T	0.010	0.03856	T	9	0.06138295	0.07688	T	0.001659	0.02728	T	0.061	0.17616	.	.	0.0138822411134	0.00435	0.004917126878572224	0.00463	.	.	0.422835052013	0.28227	T	.	.	.	-0.173524	0.24704	T	-0.487032	0.23703	T	0.330072145045039	0.26228	T	0.353565	0.07967	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	0.36732	B	.	.	1.343956	0.17510	13.20	0.99194171637765427	0.55083	0.00118	0.00744	N	AEFDBCI	0.022343	0.01105	N	-1.23987897260233	0.04434	0.2001198	-1.31939943106607	0.04180	0.1966005	0.999947639461096	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.54	-0.734	0.10579	-0.650000	0.05477	.	.	0.542000	0.25261	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.3382:0.0:0.6618:0.0	5.509	0.16158	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4737	27506.3	251	chr3	75736891	.	G	A	27506.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=0.556;DP=2799;ExcessHet=38.2876;FS=3.537;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=56.93;MQRankSum=-8.927;QD=10.38;ReadPosRankSum=0.96;SOR=0.485	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:65,27:92:99:0|1:75736891_G_A:934,0,2587:75736891	1	0	18	0
chr3	75736920	75736920	C	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2703T:p.E901D,ZNF717:NM_001290208:exon5:c.G2703T:p.E901D,ZNF717:NM_001290209:exon5:c.G2553T:p.E851D	.	404	577	541	0	0	541	0.319174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.00110452594305	.	.	.	.	.	.	.	.	.	.	0.071231	1854	26028	rs111230396	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	0.14497	T	0.062	0.45318	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.23	0.06931	T	-1.02	0.26843	N	0.085	0.06190	-0.9483	0.41263	T	0.010	0.03627	T	9	0.058318764	0.06838	T	0.001105	0.01312	T	0.103	0.29403	.	.	0.0138822411134	0.00435	0.0015786287646668746	0.00145	.	.	0.445909142494	0.31386	T	.	.	.	-0.17615	0.24310	T	-0.490804	0.23306	T	0.0638085464059829	0.07754	T	0.121888	0.00944	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.23500	B	.	.	0.610910	0.09792	6.559	0.89825184067637265	0.19134	0.00196	0.01131	N	AEFDBCI	0.022523	0.01136	N	-1.22540343885655	0.04634	0.2095599	-1.32633955667091	0.04093	0.1923357	0.999959091878699	0.48110	0.562547	0.31514	0	0.653731	0.59785	0	0.634913	0.45138	1	0.264475	0.05362	3	.	.	0.741	-0.249	0.12368	1.331000	0.33398	.	.	0.482000	0.22156	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	0.0:0.6566:0.0:0.3434	3.115	0.05989	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4737	25918.3	252	chr3	75736920	.	C	A	25918.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=1.21;DP=2877;ExcessHet=38.2876;FS=2.773;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=55.14;MQRankSum=-8.054;QD=9.41;ReadPosRankSum=0.484;SOR=0.726	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:70,24:94:99:0|1:75736891_G_A:797,0,2867:75736891	1	0	18	0
chr3	75736928	75736928	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2695A:p.V899I,ZNF717:NM_001290208:exon5:c.G2695A:p.V899I,ZNF717:NM_001290209:exon5:c.G2545A:p.V849I	.	411	571	539	1	0	541	0.32145	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.00121036639884	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs74593105	0.0001	0.0002	0.0001	0.0001	0.0026	0.0001	0.0001	0.0016	0.0013	0.0008	8.267e-05	0	8.274e-05	0	0.0026	8.845e-05	0.0003	0.0004	0.0003	0.0003	0.0002	0.0003	0.0006	0.0002	0.0002	0.0004	0.0004	0.0006	0	0	0	0	0	0	0.0001	0	0.0006	0.38	0.11191	T	0.025	0.56192	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.32	0.06214	T	0.07	0.06138	N	0.026	0.00527	-0.9474	0.41414	T	0.008	0.02926	T	9	0.09491852	0.16914	T	0.00121	0.01583	T	0.112	0.31546	.	.	0.0138822411134	0.00435	7.206520044993825E-4	0.00066	.	.	0.389449685812	0.23592	T	.	.	.	-0.217344	0.18358	T	-0.549976	0.17329	T	0.104380803558879	0.12832	T	0.0709929	0.00518	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.08948	B	.	.	0.653467	0.10217	6.957	0.91771767316116259	0.21074	0.00105	0.00673	N	AEFDBCI	0.020476	0.00813	N	-1.22446334774296	0.04648	0.2101895	-1.31163951798627	0.04279	0.2014874	0.999941810098761	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.634913	0.45138	1	0.264475	0.05362	3	.	.	1.29	0.364	0.15359	-0.265000	0.08671	.	.	0.482000	0.22156	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7401:0.0:0.2599	3.729	0.08012	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4737	25991.3	253	chr3	75736928	.	C	T	25991.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=2.3;DP=2931;ExcessHet=38.2876;FS=1.988;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=54.62;MQRankSum=-7.88;QD=9.33;ReadPosRankSum=-0.059;SOR=0.707	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:70,25:95:99:0|1:75736891_G_A:839,0,2864:75736891	1	0	18	0
chr3	75736981	75736981	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2642G:p.Q881R,ZNF717:NM_001290208:exon5:c.A2642G:p.Q881R,ZNF717:NM_001290209:exon5:c.A2492G:p.Q831R	.	394	765	361	2	0	365	0.192612	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.000733824032747	.	.	.	.	.	.	.	.	.	.	0.0486399	1266	26028	rs75085872	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.534	0.06935	T	0.328	0.18675	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	5.46	0.00959	T	-0.86	0.23372	N	0.037	0.01135	-0.9235	0.45070	T	0.002	0.00526	T	9	0.048223555	0.04243	T	7.34E-4	0.00491	T	0.100	0.28662	.	.	0.0138822411134	0.00435	5.567766943860148E-4	0.00051	.	.	0.401793837547	0.25319	T	.	.	.	-0.241342	0.15177	T	-0.584447	0.14150	T	0.043195366142589	0.04273	T	0.0990901	0.00735	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	0.45665	B	.	.	0.535899	0.09045	5.828	0.71875029535553825	0.09778	0.00552	0.02527	N	AEFDBHCI	0.039909	0.05861	N	-1.49109708187503	0.01912	0.08392857	-1.53516138275096	0.02080	0.09511815	0.999952974710247	0.48110	0.562547	0.31514	0	0.653731	0.59785	0	0.0	0.00061	3	0.264475	0.05362	3	.	.	1.92	-0.78	0.10416	-4.136000	0.00326	.	.	-1.203000	0.01359	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.2929:0.1901:0.0:0.5171	1.651	0.02605	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4444	14961.5	225	chr3	75736981	.	T	C	14961.5	.	AC=16;AF=0.444;AN=36;BaseQRankSum=-1.026;DP=2892;ExcessHet=25.4433;FS=1.222;InbreedingCoeff=-0.7673;MLEAC=17;MLEAF=0.472;MQ=52.48;MQRankSum=-7.191;QD=6.18;ReadPosRankSum=-1.421;SOR=0.789	GT:AD:DP:GQ:PL	0/1:65,23:88:99:409,0,1779	2	0	16	1
chr3	75737012	75737012	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2611A:p.E871K,ZNF717:NM_001290208:exon5:c.G2611A:p.E871K,ZNF717:NM_001290209:exon5:c.G2461A:p.E821K	.	386	662	466	8	0	482	0.266888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.0010545400782	.	.	.	.	.	.	.	.	.	.	0.0444521	1157	26028	rs75096310	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.934	0.02228	T	0.289	0.21078	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.16	0.19166	T	-0.66	0.19085	N	0.072	0.04547	-0.9570	0.39735	T	0.015	0.05946	T	9	0.029257268	0.01053	T	0.001055	0.01191	T	0.117	0.32689	.	.	0.0138822411134	0.00435	0.0019455304358727955	0.00180	.	.	0.341237813234	0.16623	T	.	.	.	-0.238107	0.15590	T	-0.5798	0.14563	T	0.0632113878371354	0.07664	T	0.059894	0.00434	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.26200	B	.	.	1.575632	0.20165	14.62	0.84215655419281732	0.15163	0.00232	0.01297	N	AEFDBHCI	0.027833	0.02344	N	-1.41055986614139	0.02545	0.1125291	-1.43935631045541	0.02868	0.1327212	0.999943869570154	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.517114	0.09559	2	0.756233	0.99697	0	.	.	1.92	-0.00832	0.13329	-3.006000	0.00714	.	.	-1.281000	0.01268	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2577:0.4021:0.0:0.3403	2.041	0.03335	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4722	20724.0	217	chr3	75737012	.	C	T	20724.0	.	AC=17;AF=0.472;AN=36;BaseQRankSum=-0.958;DP=3072;ExcessHet=31.086;FS=0.559;InbreedingCoeff=-0.8551;MLEAC=18;MLEAF=0.5;MQ=53.49;MQRankSum=-5.15;QD=7.81;ReadPosRankSum=-0.189;SOR=0.705	GT:AD:DP:GQ:PL	0/1:54,21:75:99:453,0,1598	1	0	17	1
chr3	75737060	75737060	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2563C:p.S855P,ZNF717:NM_001290208:exon5:c.T2563C:p.S855P,ZNF717:NM_001290209:exon5:c.T2413C:p.S805P	.	379	596	534	13	0	560	0.319635	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.000628152010991	.	.	.	.	.	.	.	.	.	.	0.0548256	1427	26028	rs77715040	8.282e-06	8.895e-06	4.114e-06	1.25e-05	1.183e-05	4.42e-06	3.49e-06	5.34e-06	3.9e-06	0	0	0	0	0	0	9.948e-06	0	1.183e-05	1.314e-05	1.313e-05	1.284e-05	1.345e-05	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	0.013	0.53900	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.15	0.07820	T	-3.1	0.63554	D	0.116	0.10483	-1.0427	0.16503	T	0.033	0.14029	T	9	0.09637886	0.17284	T	6.28E-4	0.00319	T	0.160	0.41473	.	.	0.0138822411134	0.00435	0.009052444588593512	0.00868	.	.	0.566062688828	0.48122	T	.	.	.	-0.167764	0.25573	T	-0.478758	0.24578	T	0.297621607780457	0.24905	T	0.79872	0.44372	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.550	0.66781	A	.	.	2.370076	0.30412	18.43	0.98191942080542327	0.39045	0.00784	0.03216	N	AEFDBHCI	0.085768	0.17389	N	-0.771083796564405	0.14068	0.6978022	-0.955324100233036	0.10800	0.5462925	0.999957637849619	0.48110	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.59	1.59	0.22622	-2.936000	0.00751	.	.	0.610000	0.48991	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	1.0:0.0:0.0:0.0	7.316	0.25675	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	30914.3	256	chr3	75737060	.	A	G	30914.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-0.825;DP=3492;ExcessHet=48.2876;FS=0.535;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=53.88;MQRankSum=-5.378;QD=9.11;ReadPosRankSum=0.644;SOR=0.759	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:57,33:90:99:.:.:755,0,1815:.	0	0	19	0
chr3	75737092	75737092	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2531A:p.C844Y,ZNF717:NM_001290208:exon5:c.G2531A:p.C844Y,ZNF717:NM_001290209:exon5:c.G2381A:p.C794Y	.	382	490	638	12	0	662	0.403167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.402	0.00342039862449	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs139633377	6.975e-07	1.369e-06	1.383e-06	0	9.107e-07	0	0	.	.	0	0	0	0	0	0	9.107e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.015	0.61642	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-1.94	0.84919	D	-7.52	0.95102	D	0.208	0.23125	-0.0500	0.81206	T	0.770	0.92171	D	9	0.30394778	0.47923	T	0.00342	0.07694	T	0.402	0.71558	.	.	0.578941962908	0.57563	0.02342305612139971	0.02294	.	.	0.721298933029	0.70236	T	.	.	.	0.128852	0.67249	D	-0.0526902	0.66838	D	0.914417432390081	0.57105	D	0.80432	0.45191	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.889	0.82003	P	.	.	2.732693	0.35776	19.99	0.91222742361264963	0.20479	0.19094	0.20525	N	AEFDBHCI	0.116885	0.22922	N	0.127215796981728	0.47735	2.995096	-0.201159305983142	0.31494	1.782947	0.999998666164745	0.74766	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.46	0.518	0.16228	4.030000	0.56971	.	.	0.487000	0.22268	0.993000	0.37899	0.000000	0.08366	0.025000	0.12405	0.0:0.7965:0.0:0.2035	5.69	0.17097	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	52412.4	280	chr3	75737092	.	C	T	52412.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-2.868;DP=3617;ExcessHet=48.2876;FS=2.51;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=55.44;MQRankSum=-8.725;QD=14.68;ReadPosRankSum=2.04;SOR=0.912	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:67,36:103:99:0|1:75737092_C_T:1270,0,2684:75737092	0	0	19	0
chr3	75737094	75737094	T	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2529T:p.R843S,ZNF717:NM_001290208:exon5:c.A2529T:p.R843S,ZNF717:NM_001290209:exon5:c.A2379T:p.R793S	.	386	488	636	12	0	660	0.403423	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.00139168871644	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs149660902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.487	0.08067	T	0.021	0.58089	D	.	.	.	.	.	.	.	.	.	.	1	0.29002	N	.	.	.	2.5	0.14408	T	0.12	0.05604	N	0.171	0.18239	-0.9656	0.38092	T	0.015	0.05849	T	9	0.041348934	0.02782	T	0.001392	0.02037	T	0.187	0.46274	.	.	0.0138822411134	0.00435	0.003970010212323737	0.00371	.	.	0.350422680378	0.17984	T	.	.	.	-0.230087	0.16639	T	-0.568281	0.15607	T	0.0363333960522166	0.03039	T	0.50295	0.15803	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.364	0.57473	A	.	.	0.927565	0.13027	9.531	0.78772853777929608	0.12446	0.00288	0.01547	N	AEFDBHCI	0.032938	0.03815	N	-1.56864543804847	0.01428	0.06230873	-1.65490256639135	0.01351	0.06097677	0.999968767302643	0.48965	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.46	-1.65	0.07849	-1.617000	0.02154	.	.	-1.209000	0.01353	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2432:0.1819:0.2457:0.3291	0.098	0.00042	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	52218.4	279	chr3	75737094	.	T	A	52218.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-2.675;DP=3606;ExcessHet=48.2876;FS=2.513;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=55.56;MQRankSum=-8.714;QD=14.56;ReadPosRankSum=1.95;SOR=0.923	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:71,36:107:99:0|1:75737092_C_T:1258,0,2852:75737092	0	0	19	0
chr3	75737105	75737105	T	A	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.A2518T:p.K840X,ZNF717:NM_001290208:exon5:c.A2518T:p.K840X,ZNF717:NM_001290209:exon5:c.A2368T:p.K790X	.	386	483	643	10	0	663	0.406998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0502536	1308	26028	rs113251431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.032	0.00825	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.493707	0.94111	D	0.471	0.94033	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.648710	0.92795	33	0.9890268774789388	0.48217	0.46426	0.27757	N	AEFDBHCI	0.042646	0.06644	N	0.188175099212538	0.50632	3.251287	-0.154561253355241	0.33234	1.898897	0.999999961661622	0.74766	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.59	1.59	0.22622	3.121000	0.50131	.	.	0.539000	0.25131	1.000000	0.71638	0.000000	0.08366	0.011000	0.09372	0.0:0.0:0.0:1.0	7.316	0.25675	987	0.02648	Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	51218.4	275	chr3	75737105	.	T	A	51218.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-3.193;DP=3583;ExcessHet=48.2876;FS=3.337;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=55.97;MQRankSum=-9.931;QD=14.38;ReadPosRankSum=1.42;SOR=0.97	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:71,33:104:99:0|1:75737092_C_T:1172,0,2882:75737092	0	0	19	0
chr3	75737127	75737127	A	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2496G:p.H832Q,ZNF717:NM_001290208:exon5:c.T2496G:p.H832Q,ZNF717:NM_001290209:exon5:c.T2346G:p.H782Q	.	384	545	585	8	0	601	0.355411	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.462	0.0028455442474	.	.	.	.	.	.	.	.	.	.	0.064008	1666	26028	rs79811623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-2.18	0.86722	D	-5.94	0.89093	D	0.203	0.22486	0.069	0.83596	D	0.747	0.91362	D	9	0.25438643	0.42818	T	0.002846	0.05956	T	0.462	0.75889	.	.	0.358340041657	0.35441	0.0053718602075851244	0.00508	.	.	0.740122795105	0.72990	T	.	.	.	0.0996688	0.64257	D	-0.0946091	0.63811	T	0.721620917320251	0.41781	D	0.784422	0.42203	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.946	0.86443	P	.	.	1.863242	0.23667	16.11	0.75650377613460507	0.11157	0.04138	0.09621	N	AEFDBHCI	0.080253	0.16223	N	-0.306900910275906	0.28885	1.597038	-0.631394962146373	0.18688	0.9994579	0.99995045990878	0.48110	0.632932	0.41330	0	0.666794	0.63253	0	0.002978	0.00130	3	0.756233	0.99697	0	.	.	1.59	0.372	0.15405	0.061000	0.14242	.	.	0.575000	0.29119	0.037000	0.20830	0.000000	0.08366	0.001000	0.02609	0.8077:0.0:0.1923:0.0	4.797	0.12647	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	45019.4	258	chr3	75737127	.	A	C	45019.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.02;DP=3367;ExcessHet=48.2876;FS=6.221;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=56.5;MQRankSum=-10.9;QD=13.47;ReadPosRankSum=1.25;SOR=1.093	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:74,32:106:99:0|1:75737092_C_T:1121,0,3011:75737092	0	0	19	0
chr3	75737164	75737172	CTACATTCT	-	exonic	ZNF717	.	nonframeshift deletion	ZNF717:NM_001128223:exon5:c.2451_2459del:p.E818_R820del,ZNF717:NM_001290208:exon5:c.2451_2459del:p.E818_R820del,ZNF717:NM_001290209:exon5:c.2301_2309del:p.E768_R770del	.	392	660	463	7	0	477	0.265442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012256	319	26028	rs66703079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	28213.3	184	chr3	75737163	.	CCTACATTCT	C	28213.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-0.052;DP=2750;ExcessHet=48.2876;FS=12.118;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=56.71;MQRankSum=-10.76;QD=10.38;ReadPosRankSum=-0.785;SOR=1.489	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:87,23:110:99:0|1:75737092_C_T:704,0,3561:75737092	0	0	19	0
chr3	75737519	75737519	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C2104T:p.P702S,ZNF717:NM_001290208:exon5:c.C2104T:p.P702S,ZNF717:NM_001290209:exon5:c.C1954T:p.P652S,ZNF717:NM_001324027:exon5:c.C2104T:p.P702S	.	378	414	722	8	0	738	0.471264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.231	0.0020371222204	.	.	.	.	.	.	.	.	.	.	0.0847549	2206	26028	rs80089603	0.0009	0.0009	0.0010	0.0008	0.0241	0.0009	0.0009	0.0227	0.0221	0.0241	0.0014	0.0065	0.0009	0	0.0016	6.293e-05	0.0031	0.0001	0.0071	0.0074	0.0072	0.0070	0.0235	0.0067	0.0066	0.0223	0.0218	0.0235	0	0.0024	0.0084	0.0025	0	0.0034	4.409e-05	0.0071	0.0006	0.014	0.53172	D	0.014	0.62352	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	3.28	0.06523	T	-2.65	0.56787	D	0.082	0.05799	-0.9616	0.38877	T	0.011	0.04274	T	9	0.0059270263	0.00133	T	0.002037	0.03721	T	0.231	0.53208	.	.	0.0297737177859	0.01360	0.030845822720570865	0.03033	.	.	0.227284103632	0.01773	T	.	.	.	-0.138909	0.30065	T	-0.437309	0.29111	T	0.612736403942108	0.36911	D	0.140186	0.01129	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.25166	B	.	.	2.134754	0.27180	17.37	0.9793642767632269	0.36999	0.50764	0.28739	D	AEFDBHCI	0.281183	0.39482	N	-0.656716686745216	0.17265	0.8869353	-0.759493038371137	0.15489	0.8148735	0.999998040796218	0.74766	0.460665	0.09802	0	0.601575	0.49859	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.27	0.281	0.14938	5.209000	0.65041	.	.	0.560000	0.28382	1.000000	0.71638	0.000000	0.08366	0.002000	0.04165	0.0:0.0:0.7085:0.2915	6.406	0.20867	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	72208.4	197	chr3	75737519	.	G	A	72208.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=0.695;DP=3883;ExcessHet=48.2876;FS=4.051;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=56.16;MQRankSum=-6.49;QD=19.68;ReadPosRankSum=0.126;SOR=0.729	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:76,48:124:99:0|1:75737519_G_A:1720,0,2871:75737519	0	0	19	0
chr3	75737590	75737590	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2033C:p.M678T,ZNF717:NM_001290208:exon5:c.T2033C:p.M678T,ZNF717:NM_001290209:exon5:c.T1883C:p.M628T,ZNF717:NM_001324027:exon5:c.T2033C:p.M678T	.	380	344	789	9	0	807	0.539799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.000918803670254	.	.	.	.	.	.	.	.	.	.	0.0043031	112	26028	rs79103664	2.155e-06	3.424e-06	1.417e-06	2.914e-06	1.862e-06	5.7e-07	1.6e-07	3.1e-07	1.2e-07	0	0	0	0	0	0	1.862e-06	1.736e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.577	0.06049	T	0.136	0.34009	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.17	0.07599	T	0.82	0.01813	N	0.035	0.01004	-0.9135	0.46415	T	0.010	0.03492	T	9	0.047419846	0.04058	T	9.19E-4	0.00889	T	0.064	0.18567	.	.	0.0138822411134	0.00435	0.020703910282481648	0.02023	.	.	0.269451141357	0.06069	T	.	.	.	-0.256687	0.13292	T	-0.606489	0.12271	T	0.0260274478999564	0.01409	T	0.0606939	0.00442	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.30634	B	.	.	-0.571595	0.01651	0.116	0.41969334367691202	0.03062	0.00342	0.01773	N	AEFDBHCI	0.055927	0.10297	N	-1.5270329997039	0.01674	0.07322606	-1.61933844482173	0.01542	0.06986147	0.999968620109732	0.48965	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.57	-2.35	0.06302	-4.932000	0.00197	.	.	-1.902000	0.00523	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.5391:0.0:0.0:0.4609	5.111	0.14145	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	80980.4	254	chr3	75737590	.	A	G	80980.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.318;DP=4255;ExcessHet=48.2876;FS=0;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=53.17;MQRankSum=-12.03;QD=19.35;ReadPosRankSum=0.753;SOR=0.74	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:57,52:109:99:0|1:75737586_A_T:2012,0,2237:75737586	0	0	19	0
chr3	75737608	75737608	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2015G:p.K672R,ZNF717:NM_001290208:exon5:c.A2015G:p.K672R,ZNF717:NM_001290209:exon5:c.A1865G:p.K622R,ZNF717:NM_001324027:exon5:c.A2015G:p.K672R	.	399	323	791	9	0	809	0.556014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.003971670348	.	.	.	.	.	.	.	.	.	.	0.0466805	1215	26028	rs75759940	4.311e-06	4.109e-06	2.835e-06	5.828e-06	5.588e-06	1.55e-06	1.02e-06	2.01e-06	1.32e-06	0	0	0	0	0	0	5.588e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.46513	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	3.16	0.07711	T	-0.9	0.24244	N	0.034	0.00942	-0.9500	0.40972	T	0.008	0.02926	T	9	0.049818516	0.04624	T	0.003972	0.09400	T	0.059	0.16972	.	.	0.0138822411134	0.00435	0.005655336952012324	0.00535	.	.	0.307848095894	0.11582	T	.	.	.	-0.255831	0.13391	T	-0.60526	0.12373	T	0.0589383841193725	0.07000	T	0.19898	0.02226	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.13268	B	.	.	1.223152	0.16170	12.37	0.86139736186920213	0.16339	0.00629	0.02767	N	AEDBHCI	0.051131	0.09005	N	-1.64554763938136	0.01054	0.04572823	-1.67922087383407	0.01232	0.05551315	0.99998526063166	0.51787	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.57	-3.14	0.04928	-0.248000	0.08872	.	.	-1.039000	0.01670	0.792000	0.29619	0.000000	0.08366	0.001000	0.02609	0.0:0.4304:0.3244:0.2451	4.750	0.12430	987	0.02648	Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	87211.4	273	chr3	75737608	.	T	C	87211.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-0.532;DP=4453;ExcessHet=48.2876;FS=0;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=52.93;MQRankSum=-13.33;QD=19.71;ReadPosRankSum=0.507;SOR=0.671	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:68,59:127:99:0|1:75737586_A_T:2273,0,2678:75737586	0	0	19	0
chr3	75737622	75737622	T	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2001T:p.R667S,ZNF717:NM_001290208:exon5:c.A2001T:p.R667S,ZNF717:NM_001290209:exon5:c.A1851T:p.R617S,ZNF717:NM_001324027:exon5:c.A2001T:p.R667S	.	390	339	783	10	0	803	0.542201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	0.00187641351265	.	.	.	.	.	.	.	.	.	.	0.0503688	1311	26028	rs76175438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.49613	D	0.042	0.50226	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	2.96	0.09542	T	-3.88	0.72710	D	0.189	0.20660	-1.0544	0.13198	T	0.045	0.19478	T	9	0.11718443	0.22126	T	0.001876	0.03272	T	0.148	0.39182	.	.	0.0138822411134	0.00435	0.02830632002622666	0.02780	.	.	0.34867143631	0.17727	T	.	.	.	-0.180088	0.23722	T	-0.496461	0.22715	T	0.343506299687112	0.26762	T	0.413359	0.10763	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.582	0.68127	P	.	.	2.295364	0.29365	18.10	0.84579906210778943	0.15375	0.01716	0.05441	N	AEFDBHCI	0.093535	0.18923	N	-0.671626443351997	0.16833	0.8611102	-0.960126716317775	0.10688	0.5399544	0.999967844770143	0.48965	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.71	0.405	0.15579	-1.876000	0.01725	.	.	0.551000	0.28136	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.2583:0.0:0.0:0.7417	5.213	0.14647	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	89860.4	289	chr3	75737622	.	T	A	89860.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-2.61;DP=4598;ExcessHet=48.2876;FS=0.515;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=53.36;MQRankSum=-13.02;QD=19.7;ReadPosRankSum=-0.634;SOR=0.643	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:71,56:127:99:0|1:75737586_A_T:2138,0,2813:75737586	0	0	19	0
chr3	75737651	75737651	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C1972T:p.R658C,ZNF717:NM_001290208:exon5:c.C1972T:p.R658C,ZNF717:NM_001290209:exon5:c.C1822T:p.R608C,ZNF717:NM_001324027:exon5:c.C1972T:p.R658C	.	400	343	772	7	0	786	0.533967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.00153184105349	.	.	.	.	.	.	.	.	.	.	0.0285462	743	26028	rs77826574	6.031e-05	7.327e-05	6.658e-05	5.386e-05	0.0004	4.978e-05	4.582e-05	9.298e-05	6.561e-05	3.182e-05	0.0002	0	5.661e-05	0	0.0004	5.584e-05	0.0001	7.603e-05	5.383e-05	7.906e-05	6.569e-05	4.138e-05	0.0002	2.611e-05	1.869e-05	1.982e-05	1.131e-05	5.043e-05	0	6.658e-05	0	0	0	0	5.922e-05	0	0.0002	0.067	0.35918	T	0.169	0.30534	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	5.42	0.00999	T	-3.07	0.63207	D	0.105	0.08925	-0.8711	0.50446	T	0.003	0.01026	T	9	0.085398704	0.14414	T	0.001532	0.02394	T	0.133	0.36157	.	.	0.0482279557977	0.04254	0.024591376914232316	0.02410	.	.	0.41199272871	0.26732	T	.	.	.	-0.203544	0.20296	T	-0.530154	0.19270	T	0.177544683043135	0.19078	T	0.0464954	0.00331	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238	0.47195	B	.	.	1.962068	0.24926	16.58	0.86866792728357911	0.16827	0.00357	0.01833	N	AEFDBHCI	0.053804	0.09728	N	-0.680381306712077	0.16582	0.8460908	-0.915126681668579	0.11737	0.5997874	0.999961843561367	0.48965	0.460665	0.09802	0	0.546412	0.12157	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.71	0.774	0.17665	-0.426000	0.07076	.	.	-0.244000	0.07312	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.185:0.0:0.5297:0.2853	2.500	0.04348	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	88261.4	293	chr3	75737651	.	G	A	88261.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.6;DP=4568;ExcessHet=48.2876;FS=0.521;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=54.19;MQRankSum=-11.6;QD=19.54;ReadPosRankSum=-0.826;SOR=0.662	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:76,59:135:99:0|1:75737586_A_T:2249,0,3014:75737586	0	0	19	0
chr3	75737676	75737676	A	T	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.T1947A:p.C649X,ZNF717:NM_001290208:exon5:c.T1947A:p.C649X,ZNF717:NM_001290209:exon5:c.T1797A:p.C599X,ZNF717:NM_001324027:exon5:c.T1947A:p.C649X	.	512	238	765	7	0	779	0.620717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0560934	1460	26028	rs79635065	0	6.854e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.025	0.00485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.356406	0.86974	D	0.274176	0.86805	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.913720	0.80871	27.4	0.97584058415749686	0.34753	0.02032	0.06091	N	AEFDBHCI	0.117194	0.22969	N	-0.0787027714682291	0.38328	2.243117	-0.47253526279424	0.22914	1.246949	0.999961225158915	0.48965	0.460665	0.09802	0	0.546412	0.12157	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.71	1.71	0.23429	0.625000	0.24171	.	.	0.517000	0.23534	0.432000	0.26424	0.000000	0.08366	0.002000	0.04165	0.6786:0.0:0.0:0.3214	3.984	0.08997	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	82829.4	287	chr3	75737676	.	A	T	82829.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.8;DP=4351;ExcessHet=48.2876;FS=2.445;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=54.86;MQRankSum=-9.984;QD=19.33;ReadPosRankSum=0.013;SOR=0.552	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:67,61:128:99:0|1:75737586_A_T:2360,0,2630:75737586	0	0	19	0
chr3	75737840	75737840	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1783A:p.E595K,ZNF717:NM_001290208:exon5:c.G1783A:p.E595K,ZNF717:NM_001290209:exon5:c.G1633A:p.E545K,ZNF717:NM_001324027:exon5:c.G1783A:p.E595K	.	370	419	727	6	0	739	0.468611	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.000881827712362	.	.	.	.	.	.	.	.	.	.	0.0177117	461	26028	rs76496075	2.859e-06	4.104e-06	4.231e-06	1.449e-06	3.707e-06	6.7e-07	4.5e-07	8.7e-07	5.9e-07	0	0	0	0	0	0	3.707e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.30656	T	0.022	0.57587	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.2	0.07236	T	-2.3	0.51157	N	0.164	0.17278	-1.0162	0.24948	T	0.024	0.10058	T	9	0.10873449	0.20253	T	8.82E-4	0.00800	T	0.063	0.18251	.	.	0.0138822411134	0.00435	0.00774685412423065	0.00739	.	.	0.43924510479	0.30473	T	.	.	.	-0.112376	0.34376	T	-0.399197	0.33477	T	0.387678323599846	0.28476	T	0.0947905	0.00704	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	0.41357	B	.	.	1.271536	0.16702	12.71	0.99193801633277179	0.55053	0.00456	0.02204	N	AEFDBHCI	0.032518	0.03688	N	-0.56728006039535	0.19945	1.047804	-0.791629829841235	0.14701	0.7694518	0.999948745414493	0.47345	0.0	0.00013	3	0.636889	0.57051	0	0.473483	0.07196	2	0.0	0.00009	3	.	.	1.9	0.993	0.18943	-0.240000	0.08970	.	.	0.415000	0.20742	0.000000	0.06391	0.000000	0.08366	0.023000	0.12082	0.0:0.8279:0.0:0.1721	6.443	0.21064	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4722	46731.8	276	chr3	75737840	.	C	T	46731.8	.	AC=17;AF=0.472;AN=36;BaseQRankSum=-2.149;DP=4419;ExcessHet=31.086;FS=11.167;InbreedingCoeff=-0.8537;MLEAC=18;MLEAF=0.5;MQ=58.89;MQRankSum=-4.862;QD=12.26;ReadPosRankSum=-0.338;SOR=0.935	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:114,41:155:99:1|0:75737791_C_A:1298,0,4407:75737791	1	0	17	1
chr3	75737881	75737881	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A1742G:p.H581R,ZNF717:NM_001290208:exon5:c.A1742G:p.H581R,ZNF717:NM_001290209:exon5:c.A1592G:p.H531R,ZNF717:NM_001324027:exon5:c.A1742G:p.H581R	.	356	594	572	0	0	572	0.325	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.389	0.00618583320825	.	.	.	.	.	.	.	.	.	.	0.0154833	403	26028	rs76729736	5.018e-06	5.475e-06	2.829e-06	7.267e-06	8.44e-05	2.09e-06	1.34e-06	2.237e-05	1.22e-05	3.194e-05	0	0	8.44e-05	0	0	0	0	3.792e-05	1.313e-05	1.312e-05	1.284e-05	1.342e-05	0.0002	2.18e-06	8.2e-07	.	.	2.405e-05	0	0	0	0.0002	0	0	0	0	0	0.031	0.45039	D	0.023	0.57104	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-2.18	0.86722	D	-7.28	0.94430	D	0.235	0.26475	0.078	0.83778	D	0.691	0.89323	D	9	0.15374556	0.29014	T	0.006186	0.16200	T	0.389	0.70521	.	.	0.26547132957	0.26150	0.029317279208247043	0.02880	.	.	0.705122470856	0.67885	T	.	.	.	0.0863372	0.62775	D	-0.113759	0.62311	T	0.349910879008873	0.27015	T	0.751425	0.37327	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.804	0.77471	P	.	.	1.529838	0.19634	14.36	0.57541806715571575	0.05792	0.27383	0.23262	N	AEFDBHCIJ	0.135649	0.25605	N	-0.602165132605538	0.18879	0.9837148	-0.767266515667793	0.15298	0.8039007	0.999994431577383	0.74766	0.566229	0.32551	0	0.615513	0.52658	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.76	0.513	0.16200	2.229000	0.42634	.	.	-0.220000	0.07995	1.000000	0.71638	0.067000	0.22148	0.002000	0.04165	0.0:0.1678:0.0:0.8322	5.415	0.15671	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4737	22517.3	279	chr3	75737881	.	T	C	22517.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.903;DP=3953;ExcessHet=38.2876;FS=17.658;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=58.41;MQRankSum=-7.695;QD=6.2;ReadPosRankSum=-4.196;SOR=1.527	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:109,29:138:99:0|1:75737881_T_C:694,0,4400:75737881	1	0	18	0
chr3	75737891	75737891	-	AAAT	exonic	ZNF717	.	frameshift insertion	ZNF717:NM_001128223:exon5:c.1731_1732insATTT:p.L578Ifs*16,ZNF717:NM_001290208:exon5:c.1731_1732insATTT:p.L578Ifs*16,ZNF717:NM_001290209:exon5:c.1581_1582insATTT:p.L528Ifs*16,ZNF717:NM_001324027:exon5:c.1731_1732insATTT:p.L578Ifs*16	.	353	691	477	1	0	479	0.257389	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004995	13	26028	rs369928577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4737	17868.3	263	chr3	75737891	.	G	GAAAT	17868.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=1.54;DP=3685;ExcessHet=38.2876;FS=22.758;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=58.24;MQRankSum=-9.11;QD=5.14;ReadPosRankSum=-4.094;SOR=1.898	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:107,22:129:99:0|1:75737881_T_C:516,0,4423:75737881	1	0	18	0
chr3	75737893	75737893	-	CTT	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.1729_1730insAAG:p.F577_P914del,ZNF717:NM_001290208:exon5:c.1729_1730insAAG:p.F577_P914del,ZNF717:NM_001290209:exon5:c.1579_1580insAAG:p.F527_P864del,ZNF717:NM_001324027:exon5:c.1729_1730insAAG:p.F577_N798del	.	356	680	485	1	0	487	0.263671	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023052	60	26028	rs373780316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4737	16790.3	259	chr3	75737893	.	A	ACTT	16790.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=0.064;DP=3615;ExcessHet=38.2876;FS=25.647;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=58.16;MQRankSum=-9.235;QD=4.92;ReadPosRankSum=-3.238;SOR=2.094	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:107,20:127:99:0|1:75737881_T_C:473,0,4429:75737881	1	0	18	0
chr3	75737948	75737949	CT	-	exonic	ZNF717	.	frameshift deletion	ZNF717:NM_001128223:exon5:c.1674_1675del:p.E560Kfs*4,ZNF717:NM_001290208:exon5:c.1674_1675del:p.E560Kfs*4,ZNF717:NM_001290209:exon5:c.1524_1525del:p.E510Kfs*4,ZNF717:NM_001324027:exon5:c.1674_1675del:p.E560Kfs*4	.	376	813	333	0	0	333	0.169985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008837	23	26028	rs74340838	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	0	0.0001	0	0.0002	0.0001	0.0002	0.0002	0.0001	0.0001	7.71e-05	0.0002	0.0003	8.659e-05	7.251e-05	0.0001	8.279e-05	4.816e-05	0	0.0003	0	0	0	0	0.0002	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1579	4037.35	240	chr3	75737947	.	CCT	C	4037.35	.	AC=6;AF=0.158;AN=38;BaseQRankSum=0.249;DP=3312;ExcessHet=2.0135;FS=24.339;InbreedingCoeff=-0.1874;MLEAC=6;MLEAF=0.158;MQ=57.02;MQRankSum=-11;QD=4.19;ReadPosRankSum=0.508;SOR=2.248	GT:AD:DP:GQ:PL	0/1:107,17:124:99:392,0,4420	13	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	.	.	.	.	.	.	.	.	0.3158	7392.86	342	chr3	75738008	.	C	T	7392.86	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-0.824;DP=3788;ExcessHet=11.1788;FS=6.856;InbreedingCoeff=-0.4602;MLEAC=12;MLEAF=0.316;MQ=57.27;MQRankSum=-12.06;QD=2.94;ReadPosRankSum=3.25;SOR=1.524	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:133,14:147:99:0|1:75737994_T_C:175,0,5506:75737994	7	0	12	0
chr3	75739283	75739283	G	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C340A:p.Q114K,ZNF717:NM_001290208:exon5:c.C340A:p.Q114K,ZNF717:NM_001290209:exon5:c.C190A:p.Q64K,ZNF717:NM_001324027:exon5:c.C340A:p.Q114K	.	430	419	666	7	0	680	0.447958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.00164498502106	.	.	.	.	.	.	.	.	.	.	0.0684647	1782	26028	rs4011155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.979	0.02012	T	0.602	0.07894	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.91	0.44856	T	-0.17	0.09627	N	0.04	0.01347	-1.0394	0.17495	T	0.052	0.22269	T	9	0.04538721	0.03603	T	0.001645	0.02676	T	0.115	0.32236	.	.	0.0138822411134	0.00435	0.01612756142273845	0.01568	.	.	0.421879798174	0.28096	T	.	.	.	-0.0408301	0.45825	T	-0.296426	0.45101	T	0.177929786236283	0.19104	T	0.340666	0.07366	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.43102	B	.	.	0.246741	0.06266	2.719	0.63846773733670814	0.07333	0.00471	0.02257	N	AEFDBCI	.	.	.	-0.990502388475167	0.08805	0.414299	-1.12680793005723	0.07191	0.3488778	0.99994075275372	0.47345	0.0	0.00013	3	0.636889	0.57051	0	0.002978	0.00130	3	0.264475	0.05362	3	.	.	2.13	-0.13	0.12839	0.783000	0.26463	.	.	0.493000	0.22426	0.008000	0.17931	0.055000	0.21918	0.006000	0.07323	0.0:0.4319:0.5681:0.0	8.996	0.35214	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4737	11257.3	145	chr3	75739283	.	G	T	11257.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-1.77;DP=1751;ExcessHet=38.2876;FS=0.577;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=54.65;MQRankSum=-4.905;QD=6.85;ReadPosRankSum=0.657;SOR=0.786	GT:AD:DP:GQ:PL	0/1:62,14:76:99:210,0,1973	1	0	18	0
chr3	100775333	100775333	T	C	exonic	ABI3BP	.	nonsynonymous SNV	ABI3BP:NM_015429:exon27:c.A2182G:p.I728V,ABI3BP:NM_001349332:exon28:c.A2257G:p.I753V,ABI3BP:NM_001349331:exon35:c.A2644G:p.I882V,ABI3BP:NM_001365642:exon40:c.A3010G:p.I1004V,ABI3BP:NM_001377332:exon49:c.A3589G:p.I1197V,ABI3BP:NM_001349330:exon54:c.A3913G:p.I1305V,ABI3BP:NM_001349329:exon57:c.A4123G:p.I1375V,ABI3BP:NM_001375549:exon59:c.A4288G:p.I1430V,ABI3BP:NM_001375550:exon59:c.A4294G:p.I1432V,ABI3BP:NM_001375547:exon60:c.A4336G:p.I1446V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.0042577872272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.40832	T	0.851	0.17064	T	0.11	0.26188	B	0.064	0.27215	B	0.129979	0.18676	N	0.542434	0.998149	0.23853	N	2.245	0.63543	M	2.23	0.22881	T	-0.36	0.13035	N	0.238	0.26837	-0.9907	0.32424	T	0.069	0.28113	T	10	0.1329661	0.25307	T	0.004258	0.10310	T	0.028	0.06331	0.178	0.08503	0.536287059136	0.53279	0.1284411164199673	0.12769	0.081923470924	0.09225	0.37267062068	0.21215	T	0.013394	0.13935	T	-0.217609	0.18322	T	-0.550357	0.17292	T	0.24375493824482	0.22591	T	0.640436	0.25296	T	0.023745567	0.01140	0.03538561	0.02781	0.023745567	0.01140	0.03538561	0.02780	.	.	.	.	.	0.112	0.22024	B	.;.;.	.;.;.	1.023665	0.14032	10.60	0.62105742636814754	0.06878	0.33788	0.24913	N	AEFDBIJ	0.088700	0.17982	N	-0.138409453698759	0.35730	2.055995	-0.25515300555331	0.29594	1.659267	0.971890519317384	0.29325	0.732398	0.92422	0	0.573888	0.26702	0	0.547309	0.15389	0	0.727631	0.95156	0	.	.	4.68	-1.84	0.07387	-0.061000	0.11650	0.266000	0.16602	-0.194000	0.09177	0.988000	0.36536	0.994000	0.32194	0.924000	0.46004	0.0:0.5259:0.0:0.4741	9.015	0.35326	722	0.55239	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3056	1558.48	47	chr3	100775333	.	T	C	1558.48	.	AC=11;AF=0.306;AN=36;BaseQRankSum=-0.764;DP=760;ExcessHet=8.9063;FS=127.792;InbreedingCoeff=-0.4631;MLEAC=12;MLEAF=0.333;MQ=60;MQRankSum=0;QD=3.78;ReadPosRankSum=0.311;SOR=10.42	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:23,15:38:99:0|1:100775333_T_C:177,0,378:100775333	7	0	11	1
chr3	108394107	108394107	C	T	exonic	MYH15	.	nonsynonymous SNV	MYH15:NM_014981:exon37:c.G5243A:p.R1748Q	.	419	1090	13	0	0	13	0.00592795	.	.	.	697740	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.121	.	0.0053	0.00379393	0.0085	0.0011	0.0027	0.0001	0.0224	0.0101	0.0122	0.0090	0.0079947	1236	154602	rs56118396	0.0073	0.0073	0.0072	0.0075	0.0103	0.0072	0.0072	0.0098	0.0095	0.0013	0.0021	0.0005	0.0001	0.0194	0.0031	0.0074	0.0062	0.0103	0.0062	0.0062	0.0058	0.0066	0.0086	0.0059	0.0057	0.0081	0.0078	0.0013	0.0143	0.0019	0.0009	0.0004	0.0199	0	0.0086	0.0024	0.0081	1.0	0.00964	T	1.0	0.01155	T	0.005	0.12996	B	0.007	0.12992	B	.	.	.	.	1	0.08975	N	-0.735	0.01762	N	-1.07	0.76948	T	2.16	0.00339	N	0.114	0.10198	-0.9384	0.42869	T	0.080	0.31795	T	9	0.004033953	0.00078	T	.	.	.	0.121	0.33580	.	.	0.260735089382	0.25697	0.04463529659902546	0.04407	0.0932311091372	0.10534	0.183556064963	0.00131	T	0.040009	0.25382	T	-0.602125	0.00142	T	-0.628292	0.10545	T	0.000304934806533025	0.00002	T	0.121088	0.00938	T	0.018657751	0.00388	0.042751234	0.05162	0.018657751	0.00388	0.042751234	0.05161	-0.025	0.00358	T	.	.	0.066	0.02091	B	.	.	-0.497752	0.01874	0.153	0.39174246166261367	0.02687	0.01390	0.04723	N	AEFBI	0.058089	0.10871	N	-1.88771121008546	0.00364	0.0156342	-1.79436086791697	0.00777	0.03467481	0.00152812571980073	0.08613	0.516011	0.20929	0	0.573888	0.26702	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	5.78	-3.55	0.04343	-0.016000	0.12550	-1.472000	0.05362	-1.939000	0.00492	0.000000	0.06391	0.000000	0.08366	0.609000	0.31615	0.1173:0.4811:0.0:0.4016	7.693	0.27745	316	0.87161	Myosin tail	.	.	.	.	rs56118396	Likely benign	0	0	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	0.005051	0.001359	0.008772	0.000000	0.008621	0.003049	0.000000	0.02632	540.33	35	chr3	108394107	.	C	T	540.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.566;DP=675;ExcessHet=0;FS=2.649;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.57;ReadPosRankSum=-0.96;SOR=0.346	GT:AD:DP:GQ:PL	0/1:21,22:43:99:554,0,486	18	0	1	0
chr3	112169290	112169290	A	T	exonic	SLC9C1	.	nonsynonymous SNV	SLC9C1:NM_001320531:exon23:c.T2814A:p.F938L,SLC9C1:NM_183061:exon24:c.T2958A:p.F986L	.	435	1084	3	0	0	3	0.00138185	.	.	.	697750	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.432	.	0.0047	0.00359425	0.0064	0.0012	0.0017	0	0.0059	0.0093	0.0089	0.0046	0.0064941	1004	154602	rs144423530	0.0077	0.0077	0.0077	0.0078	0.0089	0.0076	0.0076	0.0088	0.0087	0.0006	0.0035	0.0016	0	0.0076	0.0017	0.0089	0.0057	0.0048	0.0061	0.0061	0.0060	0.0063	0.0098	0.0058	0.0057	0.0092	0.0090	0.0012	0.0033	0.0072	0.0014	0.0004	0.0067	0	0.0098	0.0038	0.0039	0.011	0.55530	D	0.0	0.92824	D	0.999	0.77913	D	0.996	0.84481	D	0.000211	0.47681	N	0.093937	0.999951	0.19072	N	1.52	0.38360	L	-2.88	0.91533	D	-4.91	0.83557	D	0.694	0.69913	-0.0293	0.81645	T	0.674	0.88696	D	10	0.015887707	0.00334	T	.	.	.	0.432	0.73807	0.679	0.81691	0.589131389434	0.58588	0.4557867718362405	0.45496	0.386311765763	0.39923	0.53951561451	0.44377	T	0.53721	0.84089	D	-0.255318	0.13454	T	-0.127846	0.61154	T	0.0535679611152521	0.06117	T	.	.	.	0.38036737	0.59343	0.32286474	0.58223	0.38036737	0.59344	0.32286474	0.58222	-5.903	0.46028	T	.	.	0.742	0.76179	P	.;.	.;.	2.936961	0.39040	20.9	0.98761635769132106	0.45816	0.72887	0.35662	D	AEFI	0.479784	0.52178	N	-0.147937583161936	0.35323	2.027414	-0.232042399387118	0.30396	1.711011	4.39839553939223E-4	0.06970	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.83	3.39	0.37919	4.949000	0.63298	3.636000	0.39331	-0.118000	0.14412	0.998000	0.41325	0.993000	0.31925	0.094000	0.17991	0.6796:0.3204:0.0:0.0	10.268	0.42646	830	0.39242	Cyclic nucleotide-binding domain|Cyclic nucleotide-binding domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.015152	0.05263	2437.81	33	chr3	112169290	.	A	T	2437.81	.	AC=2;AF=0.053;AN=38;DP=746;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=32.94;SOR=1.739	GT:AD:DP:GQ:PL	1/1:0,74:74:99:2465,222,0	18	1	0	0
chr3	121418393	121418393	C	T	exonic	STXBP5L	.	nonsynonymous SNV	STXBP5L:NM_001308330:exon26:c.C3283T:p.P1095S,STXBP5L:NM_001348344:exon26:c.C3283T:p.P1095S,STXBP5L:NM_001348345:exon26:c.C3283T:p.P1095S,STXBP5L:NM_001348343:exon27:c.C3355T:p.P1119S,STXBP5L:NM_014980:exon27:c.C3355T:p.P1119S	.	426	1090	6	0	0	6	0.00274474	.	.	.	3216238	STXBP5L-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.081	0.00424582178419	0.0006	0.00139776	0.0005	0.0018	0.0004	0	0	0.0004	0.0022	0.0005	0.0004463	69	154602	rs182836802	0.0004	0.0004	0.0003	0.0004	0.0035	0.0003	0.0003	0.0023	0.0019	0.0012	0.0005	0.0058	2.521e-05	0	0.0035	0.0002	0.0009	0.0005	0.0007	0.0007	0.0007	0.0007	0.0014	0.0006	0.0005	0.0011	0.0010	0.0014	0	0.0007	0.0046	0	0	0.0034	0.0002	0.0014	0.0010	0.073	0.35726	T	0.151	0.32355	T	0.0	0.02946	B	0.001	0.06944	B	0.000446	0.44317	D	0.201833	0.991206	0.41332	D	0.895	0.22405	L	1.8	0.25344	T	-3.66	0.76094	D	0.132	0.12770	-1.0779	0.07761	T	0.044	0.18865	T	10	0.010337204	0.00230	T	0.004246	0.10247	T	0.081	0.23632	.	.	0.123314135267	0.11883	0.16486506190231473	0.16406	0.182014968346	0.20459	0.457533031702	0.32972	T	0.168038	0.51489	T	-0.519462	0.00443	T	-0.549027	0.17420	T	0.0233895667714799	0.01070	T	0.943706	0.78720	D	0.11546322	0.27246	0.16180968	0.37619	0.11546322	0.27246	0.16180968	0.37618	-6.262	0.48421	T	.	.	0.070	0.05404	B	.;.;.	.;.;.	2.744068	0.35953	20.1	0.98396342357770816	0.41020	0.76372	0.37451	D	AEFHCI	0.295275	0.40543	N	-0.0857306988196388	0.38018	2.220332	0.0678047627661476	0.42941	2.606294	0.245095474104048	0.18616	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.35	4.36	0.51643	3.086000	0.49857	3.267000	0.37132	0.599000	0.40250	0.960000	0.33603	0.998000	0.33993	0.896000	0.43308	0.0:0.7829:0.0:0.2171	6.365	0.20656	133	0.94666	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.005051	0.006793	0.002924	0.000000	0.008621	0.000000	0.000000	0.02632	1072.33	38	chr3	121418393	.	C	T	1072.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.835;DP=702;ExcessHet=0;FS=5.971;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.24;ReadPosRankSum=2.32;SOR=0.27	GT:AD:DP:GQ:PL	0/1:39,42:81:99:1086,0,1073	18	0	1	0
chr3	121697608	121697608	C	T	exonic	GOLGB1	.	nonsynonymous SNV	GOLGB1:NM_001256488:exon12:c.G2675A:p.S892N,GOLGB1:NM_001366283:exon12:c.G2792A:p.S931N,GOLGB1:NM_001366284:exon12:c.G2675A:p.S892N,GOLGB1:NM_001256486:exon13:c.G2915A:p.S972N,GOLGB1:NM_001256487:exon13:c.G2798A:p.S933N,GOLGB1:NM_001366282:exon13:c.G2915A:p.S972N,GOLGB1:NM_004487:exon13:c.G2900A:p.S967N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.0055666730905	.	.	0.0002	0	0	0	0	0.0004	0	0	0.0001746	27	154602	rs778004960	6.574e-05	6.636e-05	7.359e-05	5.78e-05	8.457e-05	5.5e-05	5.112e-05	7.05e-05	6.543e-05	2.998e-05	0	0	0	0	0	8.457e-05	1.657e-05	0	1.316e-05	1.314e-05	1.286e-05	1.347e-05	2.942e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.942e-05	0	0	0.261	0.16738	T	0.371	0.16425	T	0.001	0.07471	B	0.003	0.08700	B	0.408103	0.13033	N	0.739273	1	0.08975	N	1.2	0.30300	L	2.45	0.24472	T	-0.05	0.13418	N	0.083	0.05929	-1.0015	0.29488	T	0.036	0.15334	T	10	0.038387537	0.02253	T	0.005567	0.14379	T	0.010	0.01040	.	.	0.170165803431	0.16609	0.037615456697216235	0.03707	0.0975493673825	0.11016	0.338142246008	0.16160	T	0.011343	0.10136	T	-0.518972	0.00446	T	-0.687051	0.06562	T	0.355778306722641	0.27244	T	0.69713	0.36376	T	0.025965443	0.01596	0.04456666	0.05802	0.025965443	0.01595	0.04456666	0.05802	-3.888	0.22948	T	.	.	0.068	0.03372	B	.;.;.;.	.;.;.;.	-0.165862	0.03270	0.558	0.56106229042003131	0.05481	0.03532	0.08721	N	AEFBI	0.039459	0.05734	N	-1.19125646828008	0.05132	0.2332122	-1.23530746019028	0.05352	0.2547985	0.0878450262559025	0.16045	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.35	-1.89	0.07271	-2.009000	0.01544	-0.178000	0.11160	-0.176000	0.10722	0.000000	0.06391	0.020000	0.20764	0.881000	0.42162	0.1378:0.2768:0.1232:0.4621	2.032	0.03317	398	0.82839	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3824	984.38	130	chr3	121697608	.	C	T	984.38	.	AC=13;AF=0.382;AN=34;BaseQRankSum=-3.025;DP=2253;ExcessHet=13.8672;FS=218.138;InbreedingCoeff=-0.6104;MLEAC=14;MLEAF=0.412;MQ=60;MQRankSum=0;QD=0.7;ReadPosRankSum=0.975;SOR=12.96	GT:AD:DP:GQ:PL	0/1:82,38:129:94:94,0,1413	4	0	13	2
chr3	122565906	122565906	G	A	exonic	DTX3L	.	nonsynonymous SNV	DTX3L:NM_138287:exon2:c.G235A:p.E79K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.0093960294447	.	.	8.275e-06	0	0	0	0	1.505e-05	0	0	6.5e-06	1	154602	rs748994219	1.026e-05	1.026e-05	1.225e-05	8.25e-06	2.519e-05	6.16e-06	4.89e-06	3.09e-06	2.24e-06	0	0	0	2.519e-05	1.873e-05	0	7.194e-06	6.623e-05	1.159e-05	6.574e-06	6.567e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.082	0.37750	T	0.903	0.19421	T	0.001	0.07471	B	0.0	0.04355	B	0.032369	0.01752	N	2.203020	1	0.08975	N	0.345	0.11182	N	1.57	0.41392	T	-0.56	0.17003	N	0.136	0.13484	-1.0411	0.16981	T	0.075	0.30303	T	10	0.060353547	0.07401	T	0.009396	0.24646	T	0.046	0.12618	0.341	0.33302	0.288727942641	0.28479	0.20541249577607945	0.20458	0.131290004378	0.14809	0.270934164524	0.06263	T	0.02184	0.16939	T	-0.342192	0.05237	T	-0.729312	0.04358	T	0.0413936072313018	0.03943	T	0.686731	0.29555	T	0.03293492	0.03415	0.044662658	0.05837	0.03293492	0.03415	0.044662658	0.05837	-2.365	0.04923	T	.	.	0.086	0.10691	B	.;.	.;.	-0.358330	0.02373	0.260	0.60312188596707417	0.06433	0.01530	0.05038	N	AEFDBCI	0.018085	0.00522	N	-1.68619921737585	0.00892	0.03860096	-1.78889765663025	0.00795	0.035499	0.999999998241325	0.74766	0.706548	0.73137	0	0.581341	0.33841	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	4.92	-7.95	0.01015	-1.639000	0.02113	-3.598000	0.02668	-0.104000	0.15758	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2974:0.0:0.7026:0.0	16.641	0.84985	467	0.78285	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	477.33	35	chr3	122565906	.	G	A	477.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.452;DP=710;ExcessHet=0;FS=1.988;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=5.68;ReadPosRankSum=-1.311;SOR=0.467	GT:AD:DP:GQ:PL	0/1:58,26:84:99:491,0,1395	18	0	1	0
chr3	122636042	122636042	T	C	exonic	PARP15	.	nonsynonymous SNV	PARP15:NM_001308321:exon7:c.T1070C:p.F357S,PARP15:NM_152615:exon8:c.T1277C:p.F426S,PARP15:NM_001308320:exon9:c.T1394C:p.F465S,PARP15:NM_001113523:exon12:c.T1979C:p.F660S	.	435	1084	2	1	0	4	0.00184162	.	.	.	2349710	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.342	0.0187948495088	.	.	1.654e-05	0	0	0	0	3.006e-05	0	0	1.29e-05	2	154602	rs752861790	3.831e-05	3.831e-05	3.812e-05	3.85e-05	0.0026	3.026e-05	2.719e-05	0.0016	0.0013	2.988e-05	0	0	0	0	0.0026	2.698e-05	0.0001	1.159e-05	7.221e-05	7.218e-05	7.71e-05	6.711e-05	0.0001	3.968e-05	3.125e-05	4.765e-05	3.339e-05	4.811e-05	0	0	0	0	0	0.0034	0.0001	0.0005	0	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	0.999975	0.53665	D	3.51	0.92865	H	1.87	0.24085	T	-7.2	0.95634	D	0.893	0.89242	-0.6438	0.62983	T	0.223	0.58742	T	9	0.88816774	0.88151	D	0.018795	0.40979	T	0.342	0.66392	.	.	0.361360026772	0.35753	0.9137294679728841	0.91347	0.365701277882	0.38159	0.577637434006	0.49754	T	0.121954	0.44528	T	0.0572258	0.59263	T	-0.0919297	0.64016	T	0.971384522915957	0.69297	D	0.872813	0.58002	D	0.8271664	0.85707	0.76341116	0.86023	0.8271664	0.85708	0.76341116	0.86024	-10.923	0.79234	D	.	.	0.785	0.76600	P	.;.;.;.	.;.;.;.	3.387776	0.46888	22.4	0.99757863554995818	0.84772	0.75578	0.37011	D	AEDGBIJ	0.469559	0.51589	N	0.356553459793028	0.59086	4.085296	0.098892331474305	0.44495	2.730025	0.999999997333784	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.573888	0.23631	0	0.616125	0.45549	0	.	.	3.8	2.64	0.30504	2.386000	0.44034	2.552000	0.33269	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.109000	0.18697	0.0:0.1027:0.0:0.8973	7.863	0.28680	531	0.73574	Poly(ADP-ribose) polymerase, catalytic domain|Poly(ADP-ribose) polymerase, catalytic domain;Poly(ADP-ribose) polymerase, catalytic domain|Poly(ADP-ribose) polymerase, catalytic domain;.;Poly(ADP-ribose) polymerase, catalytic domain|Poly(ADP-ribose) polymerase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.005051	0.004076	0.002924	0.000000	0.017241	0.000000	0.000000	0.02632	1090.33	45	chr3	122636042	.	T	C	1090.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.526;DP=815;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.56;ReadPosRankSum=-0.116;SOR=0.638	GT:AD:DP:GQ:PL	0/1:68,46:114:99:1104,0,1884	18	0	1	0
chr3	122718848	122718848	C	T	exonic	PARP14	.	nonsynonymous SNV	PARP14:NM_017554:exon14:c.C4697T:p.T1566I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.0245065411676	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.183	0.21718	T	0.104	0.38160	T	0.533	0.37766	P	0.317	0.41633	B	0.760736	0.06538	N	1.122620	1	0.08975	N	2.4	0.69460	M	0.72	0.50976	T	-3.28	0.65627	D	0.078	0.05287	-0.9138	0.46377	T	0.131	0.44188	T	10	0.11602098	0.21875	T	0.024507	0.47498	T	0.050	0.13987	0.311	0.28451	0.495640347216	0.49198	0.2940798763515341	0.29320	0.23827783894	0.26374	0.319477140903	0.13342	T	0.158387	0.50138	T	-0.303658	0.08318	T	-0.67396	0.07357	T	0.119940146803856	0.14424	T	0.471053	0.13966	T	0.059904005	0.12228	0.053589	0.09054	0.059904005	0.12228	0.053589	0.09054	-5.618	0.42956	T	.	.	0.109	0.20663	B	.	.	-0.597821	0.01577	0.105	0.985002539254897	0.42204	0.11888	0.16925	N	AEFBI	0.125902	0.24261	N	-0.832250288111308	0.12491	0.609186	-0.989297795708188	0.10024	0.5023397	0.00615239341168821	0.11143	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.23	-3.32	0.04663	-2.744000	0.00867	-1.561000	0.05168	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.492:0.1737:0.2609:0.0734	4.292	0.10326	855	0.34697	WWE domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1784.33	35	chr3	122718848	.	C	T	1784.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.267;DP=1106;ExcessHet=0;FS=2.128;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.39;ReadPosRankSum=0.44;SOR=0.918	GT:AD:DP:GQ:PL	0/1:70,74:144:99:1798,0,1892	18	0	1	0
chr3	130421334	130421334	G	C	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon27:c.G5011C:p.G1671R,COL6A5:NM_153264:exon27:c.G5011C:p.G1671R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.797	0.164375721412	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.145e-06	2.052e-06	0	4.35e-06	2.783e-06	5.7e-07	1.6e-07	7.4e-07	2.1e-07	0	0	0	0	0	0	2.783e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	0.745532	0.33870	D	.	.	.	-6.29	0.99632	D	-5.91	0.88904	D	0.939	0.94550	1.094	0.99422	D	0.984	0.99521	D	9	0.9844847	0.98645	D	0.164376	0.84350	D	0.797	0.93346	0.939	0.99156	0.586235444834	0.58297	0.9414209663944619	0.94123	0.243824273026	0.26889	0.697831511497	0.66831	T	0.415688	0.76886	T	0.521084	0.94919	D	0.510724	0.94844	D	0.997076034545898	0.90711	D	0.905809	0.66782	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.859	0.80266	P	.	.	5.150285	0.86261	28.9	0.99794094919957821	0.87928	0.95070	0.63328	D	AEFBI	0.711476	0.66491	D	0.700525877457095	0.79667	7.126234	0.630267782049677	0.77149	6.623992	0.245493615527667	0.18621	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.29	5.29	0.74430	4.437000	0.59698	11.608000	0.93525	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.950000	0.49671	0.0:0.0:1.0:0.0	14.806	0.69579	369	0.84396	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1053	540.41	48	chr3	130421334	.	G	C	540.41	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-3.412;DP=894;ExcessHet=2.0135;FS=255.487;InbreedingCoeff=-0.1841;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=1.42;ReadPosRankSum=2.23;SOR=8.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:57,9:66:10:0|1:130421334_G_C:10,0,2085:130421334	15	0	4	0
chr3	130421335	130421335	G	A	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon27:c.G5012A:p.G1671E,COL6A5:NM_153264:exon27:c.G5012A:p.G1671E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.794	0.167130559847	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	0.723514	0.33642	D	.	.	.	-6.28	0.99614	D	-5.87	0.88630	D	0.94	0.94668	1.094	0.99395	D	0.984	0.99521	D	9	0.985523	0.98809	D	0.167131	0.84557	D	0.794	0.93227	0.951	0.99428	0.644124591191	0.64118	0.9735298133118696	0.97341	0.262336419958	0.28795	0.683480918407	0.64769	T	0.416298	0.76929	T	0.521063	0.94919	D	0.510694	0.94844	D	0.997076034545898	0.90711	D	0.920008	0.71084	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.836	0.79050	P	.	.	5.173918	0.86733	29.0	0.99152888611040157	0.53875	0.94007	0.59833	D	AEFBI	0.669031	0.63661	D	0.704442869841399	0.79923	7.181635	0.635508156860711	0.77535	6.698256	0.245493615527667	0.18621	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.29	5.29	0.74430	4.437000	0.59698	11.608000	0.93525	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.960000	0.51673	0.0:0.0:1.0:0.0	14.806	0.69579	369	0.84396	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1875	5712.42	63	chr3	130421335	.	G	A	5712.42	.	AC=6;AF=0.188;AN=32;BaseQRankSum=-0.729;DP=1224;ExcessHet=20.8569;FS=266.52;InbreedingCoeff=-0.7674;MLEAC=6;MLEAF=0.188;MQ=60;MQRankSum=0;QD=5.89;ReadPosRankSum=1.91;SOR=10.236	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:31,19:59:99:.:.:427,0,783:.	10	0	6	3
chr3	130421337	130421337	T	C	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon27:c.T5014C:p.F1672L,COL6A5:NM_153264:exon27:c.T5014C:p.F1672L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.345	0.0596216124172	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0065	0.0007	0.0006	0.0008	0.0006	0.0006	0.0008	0.0007	0.0006	0	0.0001	0.0002	0	0	0.0008	0.0005	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.36709	T	0.041	0.50514	D	.	.	.	.	.	.	.	.	.	.	0.994102	0.23586	N	.	.	.	-3.21	0.93291	D	-4.25	0.76094	D	0.346	0.38746	-0.0234	0.81768	T	0.759	0.91798	D	9	0.33778954	0.50895	T	0.059622	0.67727	D	0.345	0.66676	0.293	0.25560	0.772553812157	0.77047	0.6545526502865353	0.65391	0.0445941632002	0.04821	0.518319308758	0.41390	T	0.066183	0.32881	T	0.0586812	0.59446	T	-0.153485	0.58935	T	0.887333691120148	0.53783	D	0.69513	0.30474	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.712	0.73446	P	.	.	3.513518	0.49220	22.7	0.9944396451167653	0.64921	0.69566	0.34238	D	AEFBI	0.198693	0.32554	N	0.0829394031833179	0.45667	2.819489	0.0156810835164205	0.40442	2.413623	1.72206950552093E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.29	1.49	0.21966	0.820000	0.26979	1.068000	0.23780	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.1594:0.1801:0.0:0.6605	3.899	0.08653	369	0.84396	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4062	6329.56	63	chr3	130421337	.	T	C	6329.56	.	AC=13;AF=0.406;AN=32;BaseQRankSum=0.201;DP=1213;ExcessHet=25.4433;FS=261.259;InbreedingCoeff=-0.8537;MLEAC=14;MLEAF=0.438;MQ=60;MQRankSum=0;QD=6.15;ReadPosRankSum=1.66;SOR=10.386	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:31,30:61:99:.:.:626,0,767:.	3	0	13	3
chr3	146593988	146593988	G	A	exonic	PLSCR5	.	stopgain	PLSCR5:NM_001085420:exon4:c.C385T:p.R129X,PLSCR5:NM_001321245:exon4:c.C349T:p.R117X	.	430	1070	21	1	0	23	0.0106334	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.00239617	0.0015	0.0001	0.0017	0	0	0.0007	0.0045	0.0064	0.0013519	209	154602	rs182408490	0.0008	0.0008	0.0006	0.0010	0.0066	0.0007	0.0007	0.0055	0.0053	0.0002	0.0015	0.0002	2.52e-05	0.0003	0.0066	0.0003	0.0017	0.0059	0.0007	0.0007	0.0006	0.0008	0.0075	0.0006	0.0006	0.0056	0.0049	9.636e-05	0	0.0016	0.0009	0	0	0.0102	0.0006	0	0.0075	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.074	0.06190	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.296981	0.82723	D	0.655873	0.98747	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;Recessive	High;.;High	8.835174	0.98089	38	0.99838237944328934	0.91886	0.97426	0.74675	D	AEFI	0.158187	0.28381	N	0.751397290095938	0.82997	7.902815	0.596829152603664	0.74710	6.183835	0.999999996134232	0.74766	0.568482	0.32641	0	0.573078	0.20572	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.69	5.69	0.88346	3.291000	0.51470	3.296000	0.37344	0.676000	0.76740	0.970000	0.34288	0.985000	0.30750	0.927000	0.46353	0.0:0.0:1.0:0.0	19.822	0.96595	905	0.23532	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006042	0.000000	0.004076	0.000000	0.000000	0.008621	0.012195	0.011364	0.05263	1808.81	33	chr3	146593988	.	G	A	1808.81	.	AC=2;AF=0.053;AN=38;DP=702;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.66;SOR=0.796	GT:AD:DP:GQ:PL	1/1:0,59:59:99:1836,177,0	18	1	0	0
chr3	147391160	147391160	T	C	exonic	ZIC4	.	nonsynonymous SNV	ZIC4:NM_001243256:exon3:c.A157G:p.T53A,ZIC4:NM_001168378:exon4:c.A925G:p.T309A,ZIC4:NM_001168379:exon4:c.A889G:p.T297A,ZIC4:NM_032153:exon4:c.A775G:p.T259A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.257	0.0378511751992	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.004	0.74150	D	0.977	0.58535	D	0.989	0.78396	D	0.000233	0.47286	D	0.000000	.	.	.	0.88	0.21560	L	2.73	0.18724	T	-4.38	0.82141	D	0.851	0.86191	-0.7859	0.55967	T	0.131	0.44268	T	9	0.71945995	0.73564	D	0.037851	0.57866	D	0.257	0.56827	0.219	0.14078	0.601225841429	0.59804	0.6908358971097711	0.69023	1.12731222335	0.78490	0.811773061752	0.83763	D	0.605252	0.87408	D	0.00533437	0.52386	T	-0.230114	0.51760	T	0.992853701114655	0.83449	D	0.909209	0.69158	D	0.6355593	0.74594	0.69296795	0.81928	0.6355593	0.74596	0.69296795	0.81929	-12.315	0.90287	D	.	.	0.819	0.79547	P	.;.;.;.;.;.	.;.;.;.;.;.	5.114963	0.85525	28.6	0.99691046898137847	0.79909	0.97901	0.77985	D	AEFDBHCIJ	0.845416	0.76233	D	0.358022894457197	0.59164	4.093633	0.405272495385022	0.61891	4.39593	0.999999999993199	0.74766	0.59774	0.34471	0	0.59043	0.45803	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	4.85	4.85	0.62375	6.077000	0.70910	7.918000	0.74374	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.434	0.66840	900	0.24599	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	.	.	.	.	.	.	.	.	0.05263	3314.81	33	chr3	147391160	.	T	C	3314.81	.	AC=2;AF=0.053;AN=38;DP=739;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.69;SOR=1.179	GT:AD:DP:GQ:PL	1/1:0,108:108:99:3342,324,0	18	1	0	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	.	.	.	.	.	.	.	.	0.05556	5341.98	127	chr3	155853645	.	G	A	5341.98	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-3.876;DP=2144;ExcessHet=11.1788;FS=271.216;InbreedingCoeff=-0.4797;MLEAC=2;MLEAF=0.056;MQ=60;MQRankSum=0;QD=3.75;ReadPosRankSum=1.48;SOR=12.437	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:75,12:97:99:.:.:131,0,2346:.	16	0	2	1
chr3	160404347	160404347	T	C	exonic	SMC4	.	nonsynonymous SNV	SMC4:NM_005496:exon4:c.T530C:p.V177A,SMC4:NM_001002800:exon5:c.T530C:p.V177A,SMC4:NM_001288753:exon5:c.T455C:p.V152A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.278	0.0229069441454	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0054	0.0001	0.0001	0.0001	9.927e-05	9.386e-05	0.0001	0.0001	9.415e-05	0	3.915e-05	7.617e-05	0	0	0.0001	8.551e-05	2.42e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.032	0.54934	D	0.992	0.64738	D	0.91	0.64641	D	0.000001	0.62929	D	0.056395	1	0.81001	D	2.34	0.67151	M	2.91	0.55945	T	-3.7	0.71157	D	0.795	0.79214	-0.4533	0.70291	T	0.329	0.69682	T	9	0.70917594	0.72932	D	0.022907	0.45838	T	0.278	0.59497	0.521	0.62368	0.709883084589	0.70734	0.460518375338523	0.45969	0.58308373772	0.54039	0.600413441658	0.52963	T	0.47436	0.80584	T	0.112874	0.65647	D	-0.0756403	0.65220	T	0.978100121021271	0.72158	D	0.926107	0.81930	D	0.41292104	0.61618	0.4092579	0.65219	0.41292104	0.61618	0.4092579	0.65219	-9.197	0.69057	D	.	.	0.198	0.63267	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.808997	0.78220	26.9	0.99886819405452432	0.96204	0.99167	0.92217	D	AEFDGBIJ	0.937139	0.93449	D	0.746699790061011	0.82689	7.825052	0.770386729956323	0.87669	9.303158	0.999999999999999	0.74766	0.736574	0.97449	0	0.672317	0.65289	0	0.732669	0.93749	0	0.273489	0.05413	2	.	.	6.16	6.16	0.99302	7.982000	0.87742	7.911000	0.74030	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	16.806	0.85530	744	0.52588	RecF/RecN/SMC, N-terminal;RecF/RecN/SMC, N-terminal;RecF/RecN/SMC, N-terminal;RecF/RecN/SMC, N-terminal;RecF/RecN/SMC, N-terminal;.;.;RecF/RecN/SMC, N-terminal;RecF/RecN/SMC, 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	.	.	.	.	.	.	.	.	0.1053	225.45	46	chr3	160404347	.	T	C	225.45	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-3.497;DP=1041;ExcessHet=0.7564;FS=160.418;InbreedingCoeff=-0.1181;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=0.9;ReadPosRankSum=1.42;SOR=9	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:52,10:62:52:0|1:160404346_G_C:52,0,1826:160404346	15	0	4	0
chr3	165188532	165188532	A	T	exonic	SLITRK3	.	nonsynonymous SNV	SLITRK3:NM_001318810:exon2:c.T2299A:p.S767T,SLITRK3:NM_001318811:exon2:c.T2299A:p.S767T,SLITRK3:NM_014926:exon2:c.T2299A:p.S767T	.	432	1064	25	1	0	27	0.012529	.	.	.	2825046	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.008	0.00500885179933	0.0075	0.00459265	0.0050	0.0079	0.0050	0	0.0011	0.0066	0.0055	0.0010	0.0050387	779	154602	rs114564937	0.0057	0.0057	0.0058	0.0057	0.0234	0.0056	0.0056	0.0202	0.0190	0.0076	0.0069	0.0127	2.519e-05	0.0013	0.0234	0.0060	0.0082	0.0010	0.0066	0.0066	0.0068	0.0065	0.0113	0.0063	0.0062	0.0099	0.0094	0.0068	0	0.0113	0.0104	0	0.0011	0.0510	0.0067	0.0123	0.0013	0.593	0.05755	T	0.766	0.04539	T	0.0	0.02946	B	0.003	0.08700	B	0.109454	0.19484	N	0.274210	1	0.08975	N	0	0.06538	N	0.69	0.51714	T	-0.28	0.11547	N	0.099	0.10911	-1.0681	0.09836	T	0.029	0.12497	T	10	0.0052300096	0.00114	T	0.005009	0.12660	T	0.008	0.00669	.	.	0.289831133145	0.28582	0.3365773162473722	0.33570	0.182540845117	0.20516	0.445128530264	0.31278	T	0.015192	0.12791	T	-0.631665	0.00093	T	-0.670725	0.07562	T	0.00067123491512401	0.00006	T	0.410359	0.10588	T	0.049547575	0.08816	0.029576747	0.01311	0.049547575	0.08815	0.029576747	0.01311	-4.119	0.25569	T	.	.	0.067	0.02548	B	.;.	.;.	-0.315846	0.02550	0.307	0.22275419563544599	0.00888	0.14836	0.18610	N	AEFDBI	0.191038	0.31825	N	-1.47198114430266	0.02050	0.0901026	-1.51161872813398	0.02254	0.1034005	0.593698443047895	0.21668	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.4	-5.98	0.02034	-0.270000	0.08614	0.563000	0.19530	-0.065000	0.16512	0.000000	0.06391	0.003000	0.18671	0.033000	0.13494	0.2122:0.5141:0.1569:0.1168	4.042	0.09239	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	1	0	1	0	0.022155	0.045455	0.036685	0.011696	0.000000	0.025862	0.012195	0.007576	0.05263	5722.83	35	chr3	165188532	.	A	T	5722.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-3.16;DP=1098;ExcessHet=0.119;FS=0.516;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.61;ReadPosRankSum=1.72;SOR=0.75	GT:AD:DP:GQ:PL	0/1:117,118:235:99:2933,0,3086	17	0	2	0
chr3	170303089	170303089	A	G	exonic	PRKCI	.	nonsynonymous SNV	PRKCI:NM_002740:exon18:c.A1753G:p.I585V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	0.0221346840599	7.7e-05	.	8.256e-06	0	0	0	0	1.502e-05	0	0	6.5e-06	1	154602	rs374370739	2.752e-06	3.42e-06	2.739e-06	2.765e-06	0.0002	6.4e-07	4.3e-07	3e-07	1.1e-07	0	0	0	0	0	0.0002	1.803e-06	1.669e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.011	0.15914	B	0.011	0.15521	B	0.000000	0.84330	D	0.047350	1	0.81001	D	0.535	0.13693	N	0.75	0.50192	T	0.07	0.06138	N	0.521	0.55106	-1.0548	0.13093	T	0.069	0.28213	T	9	0.27619874	0.45181	T	0.022135	0.44997	T	0.159	0.41286	.	.	0.802968466151	0.80112	0.3676458992214215	0.36678	1.54489099394	0.87806	0.766446590424	0.76892	T	0.103207	0.41165	T	-0.042338	0.45600	T	-0.298592	0.44874	T	0.613938808441162	0.36959	D	0.935306	0.75759	D	0.24757332	0.47736	0.26509687	0.52337	0.24757332	0.47736	0.26509687	0.52336	-4.332	0.28623	T	.	.	0.169	0.37235	B	.	.	3.633871	0.51490	23.1	0.98667470359547227	0.44428	0.98927	0.88737	D	AEFGBI	0.903335	0.85229	D	-0.0441033833731986	0.39868	2.358034	0.208683036791838	0.50330	3.226066	0.999999811875311	0.74766	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.683762	0.67416	0	.	.	5.6	5.6	0.84997	8.765000	0.91371	11.160000	0.87621	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	16.077	0.80784	803	0.44167	AGC-kinase, C-terminal|AGC-kinase, C-terminal|Atypical protein kinase C iota type, 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	.	.	.	.	.	.	.	.	0.02632	1084.33	36	chr3	170303089	.	A	G	1084.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.124;DP=678;ExcessHet=0;FS=5.339;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.68;ReadPosRankSum=-1.112;SOR=1.365	GT:AD:DP:GQ:PL	0/1:23,42:65:99:1098,0,525	18	0	1	0
chr3	179240022	179240022	T	C	exonic	KCNMB3	.	nonsynonymous SNV	KCNMB3:NM_001163677:exon4:c.A496G:p.T166A	.	763	722	33	4	0	41	0.0276094	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	.	0.0035	0.00698882	0.0188	0	0.0122	0.0032	0.0006	0.0105	0	0.0389	0.0034088	527	154602	rs184550595	0.0073	0.0071	0.0063	0.0084	0.0414	0.0072	0.0072	0.0402	0.0397	0.0008	0.0041	0.0289	0.0003	0.0011	0.0301	0.0050	0.0094	0.0414	0.0056	0.0056	0.0049	0.0064	0.0441	0.0053	0.0052	0.0393	0.0374	0.0013	0	0.0071	0.0326	0.0004	0.0011	0.0170	0.0047	0.0133	0.0441	0.157	0.23997	T	0.038	0.51421	D	.	.	.	.	.	.	.	.	.	.	0.99799	0.81001	N	.	.	.	2.26	0.17596	T	-0.81	0.22294	N	0.111	0.09772	-1.0142	0.25593	T	0.024	0.10374	T	9	0.0035863519	0.00065	T	.	.	.	0.061	0.17616	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.562205	0.00246	T	-0.551777	0.17155	T	0.012226413319391	0.00197	T	0.29997	0.05606	T	.	.	.	.	.	.	.	.	-3.779	0.20491	T	.	.	0.137	0.29941	B	.	.	1.620727	0.20700	14.87	0.9940360828791398	0.62934	0.83452	0.42568	D	AEFGI	0.206643	0.33289	N	-0.0184429246067715	0.41021	2.446306	0.0663263132403697	0.42868	2.60055	0.677897955158269	0.22446	0.643511	0.44296	0	0.688494	0.66719	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	4.35	4.35	0.51454	3.584000	0.53680	4.174000	0.42293	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.0:0.0:0.0:1.0	11.973	0.52364	809	0.43032	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.019330	0.005376	0.009615	0.009009	0.000000	0.000000	0.018750	0.050000	0.07895	2834.79	30	chr3	179240022	.	T	C	2834.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=2.57;DP=764;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=59.84;MQRankSum=-0.958;QD=15.24;ReadPosRankSum=0.125;SOR=0.676	GT:AD:DP:GQ:PL	0/1:24,24:48:99:747,0,671	16	0	3	0
chr3	184886122	184886122	G	A	exonic	VPS8	.	nonsynonymous SNV	VPS8:NM_001349296:exon20:c.G1708A:p.V570I,VPS8:NM_001009921:exon21:c.G1747A:p.V583I,VPS8:NM_001349293:exon21:c.G1747A:p.V583I,VPS8:NM_001349294:exon21:c.G1747A:p.V583I,VPS8:NM_001349295:exon21:c.G1747A:p.V583I,VPS8:NM_001349297:exon21:c.G28A:p.V10I,VPS8:NM_015303:exon21:c.G1741A:p.V581I,VPS8:NM_001349292:exon22:c.G1747A:p.V583I	.	437	1071	14	0	0	14	0.00649351	.	.	.	720328	VPS8-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.061	0.00888207575459	0.0043	0.000998403	0.0040	0.0015	0.0015	0	0.0002	0.0062	0.0086	0.0020	0.0028784	445	154602	rs61742617	0.0038	0.0038	0.0038	0.0038	0.0052	0.0037	0.0037	0.0044	0.0044	0.0006	0.0012	0.0017	2.527e-05	0.0004	0.0052	0.0045	0.0032	0.0018	0.0026	0.0026	0.0030	0.0021	0.0045	0.0024	0.0023	0.0041	0.0039	0.0011	0	0.0014	0.0003	0	0.0002	0.0068	0.0045	0.0052	0.0019	0.038	0.42783	D	0.122	0.35710	T	0.865	0.47557	P	0.421	0.45113	B	0.001579	0.38612	N	0.257927	0.990834	0.81001	D	1.79	0.46772	L	2.07	0.20387	T	-0.37	0.13226	N	0.261	0.31590	-1.0432	0.16354	T	0.025	0.10598	T	10	0.011211127	0.00246	T	0.008882	0.23415	T	0.061	0.17616	.	.	0.354610295913	0.35065	0.35082575116241993	0.34996	.	.	0.336408913136	0.15899	T	0.016591	0.13686	T	-0.516923	0.00458	T	-0.511994	0.21110	T	0.0160576871120795	0.00385	T	0.860314	0.55333	D	0.047003925	0.07961	0.052382987	0.08618	0.047003925	0.07961	0.052382987	0.08617	-6.081	0.46952	T	.	.	0.078	0.07412	B	.;.;.	.;.;.	1.785745	0.22700	15.73	0.99558418248310299	0.71583	0.90107	0.51028	D	AEFBI	0.183403	0.31073	N	-0.0418415516867627	0.39967	2.365649	0.013562200068986	0.40343	2.406199	2.565026486874E-4	0.06190	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.83	2.1	0.26226	2.102000	0.41421	0.130000	0.15034	0.656000	0.54149	0.997000	0.40164	0.001000	0.17328	0.999000	0.91618	0.2366:0.0:0.6434:0.1201	6.117	0.19354	744	0.52588	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005040	0.000000	0.006793	0.000000	0.000000	0.008621	0.006135	0.007576	0.02632	751.33	34	chr3	184886122	.	G	A	751.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.717;DP=682;ExcessHet=0;FS=0.907;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.05;ReadPosRankSum=-1.068;SOR=0.576	GT:AD:DP:GQ:PL	0/1:33,35:68:99:765,0,801	18	0	1	0
chr3	195725046	195725046	G	T	exonic	MUC20	.	nonsynonymous SNV	MUC20:NM_001282506:exon2:c.G443T:p.S148I,MUC20:NM_001291833:exon2:c.G443T:p.S148I,MUC20:NM_020790:exon2:c.G443T:p.S148I,MUC20:NM_152673:exon2:c.G443T:p.S148I	.	437	1047	37	1	0	39	0.0182841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.161	0.0218980790304	.	.	8.293e-06	0.0001	0	0	0	0	0	0	0.0026894	70	26028	rs369019587	0.0003	0.0024	0.0003	0.0003	0.0063	0.0003	0.0003	0.0056	0.0053	0.0063	0.0005	0.0002	0.0004	0.0002	0.0016	6.594e-05	0.0003	0.0010	0.0010	0.0073	0.0009	0.0012	0.0016	0.0009	0.0008	0.0009	0.0008	0.0008	0.0012	0.0011	0.0006	0.0011	0.0015	0	0.0011	0	0.0016	0.021	0.50132	D	0.015	0.61642	D	1.0	0.90584	D	0.992	0.80445	D	0.000069	0.52346	D	0.000000	1	0.81001	D	1.895	0.50365	L	2.11	0.27486	T	-2.07	0.78046	N	0.511	0.60241	-0.8738	0.50241	T	0.115	0.40740	T	10	0.009695768	0.00218	T	0.021898	0.44729	T	0.161	0.41658	0.375	0.38830	0.0401082797425	0.02173	0.38443668743494736	0.38358	.	.	0.296985238791	0.09953	T	0.051845	0.48691	T	-0.0104339	0.50204	T	-0.252764	0.49543	T	0.0180324871293138	0.00527	T	0.522848	0.17081	T	0.18034686	0.39151	0.17408364	0.39779	0.18034686	0.39151	0.17408364	0.39778	-3.878	0.21973	T	.	.	0.198	0.45593	B	.;.;.;.	.;.;.;.	3.182996	0.43212	21.7	0.99587376711661724	0.73395	0.85805	0.44979	D	AEFDI	0.070631	0.14029	N	0.31139379516342	0.56734	3.838514	0.253520388367582	0.52850	3.457138	0.00138654049803063	0.08495	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.52	3.63	0.40741	1.468000	0.34941	5.911000	0.51023	0.670000	0.69193	0.999000	0.42656	1.000000	0.68203	0.848000	0.40082	0.1045:0.0:0.8955:0.0	8.898	0.34636	851	0.35303	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	70.63	118	chr3	195725046	.	G	T	70.63	.	AC=2;AF=0.056;AN=36;BaseQRankSum=4.08;DP=2187;ExcessHet=0.119;FS=79.84;InbreedingCoeff=-0.0722;MLEAC=2;MLEAF=0.056;MQ=37.31;MQRankSum=-3.837;QD=0.18;ReadPosRankSum=-4.28;SOR=6.592	GT:AD:DP:GQ:PL	0/1:162,19:181:40:40,0,3737	16	0	2	1
chr3	195778978	195778978	G	0	exonic	MUC4	.	.	.	.	430	961	15	0	116	131	0.00774393	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	253.72	626	chr3	195778978	.	G	*	253.72	.	AC=6;AF=0.2;AN=30;BaseQRankSum=-0.682;DP=7656;ExcessHet=3.6146;FS=2.774;InbreedingCoeff=-0.1186;MLEAC=7;MLEAF=0.233;MQ=53.86;MQRankSum=-4.516;QD=0.06;ReadPosRankSum=2.17;SOR=0.919	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:47,228:275:99:0|1:195778940_TGTCGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGCTGGTGACAGGAAGAGGGGTGCCGTGACCTGTGGACACTGAGGAAGC_T:7817,0,1272:195778940	9	0	6	4
chr3	195779180	195779180	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C12400T:p.L4134F	.	431	1031	55	1	4	61	0.0268995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	.	.	0.00419329	0.0028	0.0449	0.0052	0	0	0	0	0.0001	0.0004528	70	154602	rs376661673	0.0012	0.0024	0.0012	0.0012	0.0218	0.0011	0.0011	0.0200	0.0193	0.0218	0.0020	0.0021	0.0038	0.0015	0.0015	0.0006	0.0018	0.0008	0.0024	0.0086	0.0023	0.0025	0.0086	0.0022	0.0021	0.0077	0.0073	0.0086	0.0013	0.0018	0.0003	0	0.0009	0.0147	0.0003	0.0012	0.0005	0.122	0.31682	T	0.687	0.06090	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.47	0.31987	T	-1.42	0.34992	N	0.017	0.02462	-1.0263	0.21658	T	0.029	0.12322	T	8	0.0066381395	0.00150	T	.	.	.	0.114	0.32008	.	.	0.0138822411134	0.00435	0.002251550363716431	0.00209	.	.	0.504269659519	0.39422	T	.	.	.	-0.389721	0.02702	T	-0.797584	0.01964	T	0.00476424314566729	0.00051	T	0.740126	0.35895	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.28174	B	.;.	.;.	1.857231	0.23593	16.08	0.3982221116324855	0.02772	0.00023	0.00238	N	AEFBI	0.032384	0.03648	N	-1.82500070419633	0.00487	0.02095318	-1.9394512879322	0.00408	0.01805407	1.87221308730375E-4	0.05844	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	0.423	-0.846	0.10190	-0.817000	0.04579	-7.437000	0.01157	-2.483000	0.00269	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2435:0.2547:0.2471:0.2546	0.139	0.00075	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	0.019841	0.012821	0.019900	0.027473	0.000000	0.058824	0.020161	0.000000	0.02778	191.72	521	chr3	195779180	.	G	A	191.72	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-2.01;DP=5894;ExcessHet=0;FS=17.43;InbreedingCoeff=0.2963;MLEAC=1;MLEAF=0.028;MQ=49.8;MQRankSum=-1.951;QD=3.2;ReadPosRankSum=0.641;SOR=0.773	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:33,27:60:99:1|0:195779134_A_C:205,0,595:195779134	17	0	1	1
chr3	195779779	195779779	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C11801T:p.A3934V	.	600	874	3	9	36	57	0.0118711	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.00327910076655	.	.	6.677e-05	0	0	0	0.0009	0	0	0	.	.	.	rs112027608	0.0007	0.0022	0.0006	0.0008	0.0028	0.0007	0.0006	0.0022	0.0020	0.0002	0.0003	0.0014	0.0028	0.0041	0.0003	0.0005	0.0009	0.0006	5.906e-05	0.0003	0.0001	0	9.035e-05	2.326e-05	1.453e-05	1.979e-05	1.048e-05	9.035e-05	0	0	0	0	0	0	7.465e-05	0	0	0.423	0.09746	T	0.393	0.15746	T	.	.	.	.	.	.	.	.	.	.	0.999999	0.25515	N	.	.	.	1.33	0.35031	T	-0.53	0.16393	N	0.035	0.01999	-1.0151	0.25304	T	0.043	0.18576	T	6	0.029459447	0.01072	T	0.003279	0.07268	T	0.018	0.03083	0.205	0.12076	0.0138822411134	0.00435	0.0017600896857898872	0.00163	.	.	0.509031713009	0.40087	T	.	.	.	-0.324223	0.06558	T	-0.703501	0.05636	T	0.0235782377466411	0.01093	T	0.686031	0.29438	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.25331	B	.;.	.;.	0.060896	0.04720	1.352	0.93910929547238409	0.23946	0.00624	0.02752	N	AEFBI	0.059095	0.11135	N	-1.3016471889903	0.03657	0.1637367	-1.42224578363642	0.03030	0.1405921	1.54978405088282E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	1.321000	0.33283	0.221000	0.16075	0.178000	0.17791	0.004000	0.16614	0.000000	0.08366	0.003000	0.05239	.	.	.	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	0.006422	0.007353	0.000000	0.000000	0.000000	0.000000	0.026316	0.000000	0.02941	236.26	203	chr3	195779779	.	G	A	236.26	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-1.15;DP=2963;ExcessHet=0;FS=0;InbreedingCoeff=-0.0045;MLEAC=1;MLEAF=0.029;MQ=34.94;MQRankSum=0.366;QD=33.75;ReadPosRankSum=1.15;SOR=0.223	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,6:7:24:0|1:195779726_G_A:249,0,24:195779726	16	0	1	2
chr3	195780062	195780062	G	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1471	4631.74	396	chr3	195780062	.	G	*	4631.74	.	AC=5;AF=0.147;AN=34;BaseQRankSum=1.81;DP=4944;ExcessHet=0.0107;FS=4.271;InbreedingCoeff=0.3667;MLEAC=5;MLEAF=0.147;MQ=56.06;MQRankSum=1.96;QD=3.14;ReadPosRankSum=1.27;SOR=0.619	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:26,187:213:99:.:.:7683,0,453:.	13	1	3	2
chr3	195780103	195780103	G	0	exonic	MUC4	.	.	.	.	460	608	62	9	383	463	0.0617284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	6505.95	396	chr3	195780103	.	G	*	6505.95	.	AC=3;AF=0.15;AN=20;BaseQRankSum=4.79;DP=4985;ExcessHet=0.0101;FS=13.569;InbreedingCoeff=0.015;MLEAC=5;MLEAF=0.25;MQ=51.06;MQRankSum=1.46;QD=8.97;ReadPosRankSum=-1.24;SOR=0.586	GT:AD:DP:GQ:PL	0/1:26,187:213:99:7683,0,453	7	0	3	9
chr3	195780499	195780499	G	0	exonic	MUC4	.	.	.	.	0	114	53	2	57	114	0.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1471	45874.5	680	chr3	195780499	.	G	*	45874.5	.	AC=5;AF=0.147;AN=34;BaseQRankSum=-0.721;DP=7497;ExcessHet=0.0925;FS=0;InbreedingCoeff=0.2762;MLEAC=5;MLEAF=0.147;MQ=54.24;MQRankSum=1.72;QD=9.76;ReadPosRankSum=-1.183;SOR=0.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:3,466:493:99:.:.:20661,1834,574:.	12	0	5	2
chr3	195780501	195780501	C	0	exonic	MUC4	.	.	.	.	741	294	218	40	229	527	0.336343	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1765	60340.5	679	chr3	195780501	.	C	*	60340.5	.	AC=6;AF=0.176;AN=34;BaseQRankSum=-0.813;DP=7450;ExcessHet=0.6568;FS=0;InbreedingCoeff=0.0695;MLEAC=6;MLEAF=0.176;MQ=54.57;MQRankSum=-0.334;QD=10.7;ReadPosRankSum=-3.277;SOR=0.676	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:3,466:490:99:.:.:20542,1713,448:.	11	0	6	2
chr3	195780510	195780510	G	0	exonic	MUC4	.	.	.	.	1	126	41	1	57	100	0.145763	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1765	23279.0	579	chr3	195780510	.	G	*	23279.0	.	AC=6;AF=0.176;AN=34;BaseQRankSum=0.143;DP=7106;ExcessHet=0.0393;FS=0.542;InbreedingCoeff=0.3968;MLEAC=7;MLEAF=0.206;MQ=53.57;MQRankSum=2.52;QD=5.85;ReadPosRankSum=0.034;SOR=0.65	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:4,464:482:99:.:.:20368,1370,142:.	11	0	6	2
chr3	195780514	195780514	G	0	exonic	MUC4	.	.	.	.	30	98	40	1	57	99	0.176471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1875	22646.6	579	chr3	195780514	.	G	*	22646.6	.	AC=6;AF=0.188;AN=32;BaseQRankSum=-0.885;DP=7531;ExcessHet=0.061;FS=0;InbreedingCoeff=0.3667;MLEAC=7;MLEAF=0.219;MQ=54.02;MQRankSum=1.88;QD=5.61;ReadPosRankSum=-1.292;SOR=0.666	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:4,464:481:99:.:.:20632,1493,155:.	10	0	6	3
chr3	195780525	195780527	GTC	0	exonic	MUC4	.	.	.	.	583	681	21	3	234	261	0.0194384	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3077	5023.55	579	chr3	195780525	.	GTC	*	5023.55	.	AC=8;AF=0.308;AN=26;BaseQRankSum=-0.824;DP=7018;ExcessHet=0;FS=1.575;InbreedingCoeff=0.6608;MLEAC=11;MLEAF=0.423;MQ=53.01;MQRankSum=3.61;QD=2.26;ReadPosRankSum=0.247;SOR=0.539	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:5,464:469:99:.:.:20430,1295,0:.	8	3	2	6
chr3	195780528	195780528	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	946.81	579	chr3	195780528	.	C	*	946.81	.	AC=11;AF=0.5;AN=22;BaseQRankSum=2.37;DP=6994;ExcessHet=0.0015;FS=0.606;InbreedingCoeff=0.4909;MLEAC=16;MLEAF=0.727;MQ=53.39;MQRankSum=3.61;QD=0.39;ReadPosRankSum=0.587;SOR=0.632	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:5,464:469:99:.:.:20430,1295,0:.	4	4	3	8
chr3	195780541	195780541	C	0	exonic	MUC4	.	.	.	.	810	420	40	3	249	295	0.0519187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4444	949.18	579	chr3	195780541	.	C	*	949.18	.	AC=8;AF=0.444;AN=18;BaseQRankSum=0.261;DP=6540;ExcessHet=0;FS=0;InbreedingCoeff=0.5074;MLEAC=13;MLEAF=0.722;MQ=52.42;MQRankSum=5.65;QD=0.46;ReadPosRankSum=1.99;SOR=0.687	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:12,464:476:99:.:.:19984,944,0:.	4	3	2	10
chr3	195780551	195780551	C	0	exonic	MUC4	.	.	.	.	581	671	22	0	248	270	0.016129	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3636	948.16	579	chr3	195780551	.	C	*	948.16	.	AC=8;AF=0.364;AN=22;BaseQRankSum=-1;DP=6344;ExcessHet=0;FS=0;InbreedingCoeff=0.5634;MLEAC=12;MLEAF=0.545;MQ=52.17;MQRankSum=6.12;QD=0.45;ReadPosRankSum=2.54;SOR=0.748	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:19,464:483:99:.:.:19549,597,0:.	6	3	2	8
chr3	195780557	195780557	T	0	exonic	MUC4	.	.	.	.	578	675	22	0	247	269	0.016035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	948.49	579	chr3	195780557	.	T	*	948.49	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-1.826;DP=6338;ExcessHet=0;FS=0.682;InbreedingCoeff=0.518;MLEAC=12;MLEAF=0.6;MQ=52.04;MQRankSum=6.88;QD=0.45;ReadPosRankSum=2.14;SOR=0.793	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:23,464:487:99:.:.:19369,429,0:.	5	3	2	9
chr3	195780563	195780563	C	0	exonic	MUC4	.	.	.	.	632	621	22	0	247	269	0.0174051	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	942.2	579	chr3	195780563	.	C	*	942.2	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-1.968;DP=6348;ExcessHet=0.0029;FS=0.656;InbreedingCoeff=0.4242;MLEAC=11;MLEAF=0.55;MQ=51.75;MQRankSum=8.81;QD=0.44;ReadPosRankSum=3.83;SOR=0.791	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:39,464:503:99:.:.:18891,0,242:.	5	2	3	9
chr3	195780572	195780572	T	0	exonic	MUC4	.	.	.	.	812	434	22	0	254	276	0.0247191	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2778	69.59	579	chr3	195780572	.	T	*	69.59	.	AC=5;AF=0.278;AN=18;BaseQRankSum=1.13;DP=6411;ExcessHet=0.4981;FS=0;InbreedingCoeff=0.1556;MLEAC=8;MLEAF=0.444;MQ=51.42;MQRankSum=9.47;QD=0.03;ReadPosRankSum=4.84;SOR=0.667	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:63,464:527:99:.:.:18819,0,1232:.	4	0	5	10
chr3	195780590	195780590	G	0	exonic	MUC4	.	.	.	.	755	498	22	0	247	269	0.021611	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2222	301.13	579	chr3	195780590	.	G	*	301.13	.	AC=4;AF=0.222;AN=18;BaseQRankSum=2.87;DP=6561;ExcessHet=2.5072;FS=1.283;InbreedingCoeff=0.0198;MLEAC=7;MLEAF=0.389;MQ=50.81;MQRankSum=11.14;QD=0.13;ReadPosRankSum=2.14;SOR=0.573	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:92,464:556:99:.:.:18732,0,2361:.	5	0	4	10
chr3	195781535	195781582	CGGTGACAGGCACAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGGGC	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.9998_10045del:p.S3333_D3349delinsN,MUC4:NM_001322468:exon12:c.8819_8845del:p.V2940_A4615delinsGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPVTSLSSVSTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSRGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLPVTSTSSASTGHATSLPVTDTSSVSTGHATSLPVTDTSSVSTGHATPLPVTDASSVSTGHATPLPVTDASSASTGDTTPLPVTNTSSASTGQATPLPVTSLSSVSTGDTMPLPVTSPSSASTGHATPLPVTGLSSASTGDTTPLPVTDTSSASTGHVTPLPVTSLSSASTGDSTPLPVTDTSSASTGHVTPLPVTSLSSASTGDTTPLPVTDTSSASTGHATPLHVTDASSASTGQATLLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDTSSASTGHATPLPVTDASSVSTGHATSLPVTIRSSGSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTMPLPVTSPSSASTGDTTPLPVTDASSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTTSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHATPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATSLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLHVTDASSVSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTDTSSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGHTTSLPVTDASSVSTGHATSLPVTIPSSASSGHTTPLPVTDASSVPTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGQATPLPVTSLSSASSTGDTTPLPVTDTSSASTGQDTPLPVTSLFSVSTGDTTPLPVTSPSSASTGHATHLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSVSTGHATSLPVTDTSSASTGHATSLPVTDTSSASTGQATPLPVTSPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTSPSSASTGHATPLHVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTDVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHATSLHVTSPSSASTGHATPLPVTDTSAASTGHATPLPVTSTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATSLPVTDTSSASTGDTTSLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSLASTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSASTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVSDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSTGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLHVTSPSSSSTGQATPLPVTSTSSVSTGHVTPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTDASSVSTGHATPLPVTDTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGHATPLAVSSATSASTVSSDSPLKMETSGMTTPSLKTDGGRRTATSPPPTTSQTIISTIPSTAMHTRSTAAPIPILPERGVSLFPYGADAGDLEFVRRTVDFTSPLFKPATGFPLGSSLRDSLYFTDNGQIIFPESDYQIFSYPNPLPTGFTGRDPVALVAPFWDDADFSTGRGTTFYQEYETFYGEHSLLVQQAESWIRKMTNNGGYKARWALKVTWVNAHAYPAQWTLGSNTYQAILSTDGSRSYALFLYQSGGMQWDVAQRSGNPVLMGFSSGDGYFENSPLMSQPVWERYRPDRFLNSNSGLQGLQFYRLHREERPNYRLECLQWLKSQPRWPSWGWNQVSCPCSWQQGRRDLRFQPVSIGRWGLGSRQLCSFTSWRGGVCCSYGPWGEFREGWHVQRPWQLAQELEPQSWCCRWNDKPYLCALYQQRRPHVGCATYRPPQPAWMFGDPHITTLDGVSYTFNGLGDFLLVGAQDGNSSFLLQGRTAQTGSAQATNFIAFAAQYRSSSLGPVTVQWLLEPHDAIRVLLDNQTVTFQPDHEDGGGQETFNATGVLLSRNGSEVSASFDGWATVSVIALSNILHASASLPPEYQNRTEGLLGVWNNNPEDDFRMPNGSTIPPGSPEEMLFHFGMTWQINGTGLLGKRNDQLPSNFTPVFYSQLQKNSSWAEHLISNCDGDSSCIYDTLALRNASIGLHTREVSKNYEQANATLNQYPPSINGGRVIEAYKGQTTLIQYTSNAEDANFTLRDSCTDLELFENGTLLWTPKSLEPFTLEILARSAKIGLASALQPRTVVCHCNAESQCLYNQTSRVGNSSLEVAGCKCDGGTFGRYCEGSEDACEEPCFPSVHCVPGKGCEACPPNLTGDGRHCAALGSSFLCQNQSCPVNYCYNQGHCYISQTLGCQPMCTCPPAFTDSRCFLAGNNFSPTVNLELPLRVIQLLLSEEENASMAEVNASVAYRLGTLDMRAFLRNSQVERIDSAAPASGSPIQHWMVISEFQYRPRGPVIDFLNNQLLAAVVEAFLYHVPRRSEEPRNDVVFQPISGEDVRDVTALNVSTLKAYFRCDGYKGYDLVYSPQSGFTCVSPCSRGYCDHGGQCQHLPSGPRCSCVSFSIYTAWGEHCEHLSMKLDAFFGIFFGALGGLLLLGVGTFVVLRFWGCSGARFSYFLNSAEALP*	.	432	1084	3	0	3	6	0.00138185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0005	0	0.0037	0	0.0017	0	0.0003	.	.	.	rs773375978	4.072e-05	0.0059	4.243e-05	3.896e-05	0.0003	3.176e-05	2.88e-05	2.611e-05	2.317e-05	0	3.061e-05	0.0002	9.239e-05	0.0001	0.0003	3.566e-05	5.609e-05	0	0.0005	0.0035	0.0005	0.0005	0.0015	0.0004	0.0004	0.0007	0.0005	0.0002	0	0.0008	0.0009	0.0015	0.0006	0	0.0005	0.0016	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	3437.39	679	chr3	195781534	.	TCGGTGACAGGCACAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGGGC	T	3437.39	.	AC=4;AF=0.105;AN=38;BaseQRankSum=5.22;DP=9158;ExcessHet=0.7564;FS=3.274;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=56.05;MQRankSum=-9.668;QD=1.05;ReadPosRankSum=-3.2;SOR=1.173	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:720,63:783:99:0|1:195781522_A_G:341,0,29145:195781522	15	0	4	0
chr3	195781535	195781535	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	354.08	679	chr3	195781535	.	C	*	354.08	.	AC=4;AF=0.111;AN=36;BaseQRankSum=0.668;DP=9232;ExcessHet=1.3;FS=3.311;InbreedingCoeff=-0.1692;MLEAC=4;MLEAF=0.111;MQ=58.31;MQRankSum=-16.18;QD=0.09;ReadPosRankSum=-5.596;SOR=1.191	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:720,63:783:99:0|1:195781522_A_G:341,0,29145:195781522	14	0	4	1
chr3	195781583	195781583	T	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2941	7231.06	732	chr3	195781583	.	T	*	7231.06	.	AC=10;AF=0.294;AN=34;BaseQRankSum=-3.763;DP=9189;ExcessHet=8.9063;FS=5.102;InbreedingCoeff=-0.4615;MLEAC=11;MLEAF=0.324;MQ=57.68;MQRankSum=-7.567;QD=1.27;ReadPosRankSum=-4.714;SOR=1.174	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:391,151:545:99:.:.:5130,0,15635:.	7	0	10	2
chr3	195781618	195781666	GCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	0	exonic	MUC4	.	.	.	.	469	535	446	20	52	538	0.312339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2059	58698.1	630	chr3	195781618	.	GCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	*	58698.1	.	AC=7;AF=0.206;AN=34;BaseQRankSum=0.997;DP=7467;ExcessHet=0.0541;FS=0;InbreedingCoeff=0.2599;MLEAC=7;MLEAF=0.206;MQ=54.21;MQRankSum=-0.328;QD=11.66;ReadPosRankSum=0.523;SOR=0.714	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:25,94:388:99:.:.:13930,9972,11828:.	11	1	5	2
chr3	195781628	195781628	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	69413.1	655	chr3	195781628	.	C	*	69413.1	.	AC=18;AF=0.5;AN=36;BaseQRankSum=1.32;DP=6779;ExcessHet=0.0128;FS=0.963;InbreedingCoeff=0.468;MLEAC=19;MLEAF=0.528;MQ=55.59;MQRankSum=1.83;QD=11.34;ReadPosRankSum=1.72;SOR=0.782	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,377:390:99:1|1:195781522_A_G:16407,1135,0:195781522	5	5	8	1
chr3	195782558	195782558	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2308	41102.2	908	chr3	195782558	.	A	*	41102.2	.	AC=6;AF=0.231;AN=26;BaseQRankSum=1.27;DP=8955;ExcessHet=0;FS=0;InbreedingCoeff=0.7718;MLEAC=8;MLEAF=0.308;MQ=54.8;MQRankSum=-4.934;QD=12.17;ReadPosRankSum=1.41;SOR=0.717	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:0,351:635:99:.:.:17086,7935,9573:.	7	0	6	6
chr3	195782605	195782605	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	15317.1	821	chr3	195782605	.	A	*	15317.1	.	AC=6;AF=0.25;AN=24;BaseQRankSum=-1.5;DP=9299;ExcessHet=0.0001;FS=0.605;InbreedingCoeff=0.4242;MLEAC=8;MLEAF=0.333;MQ=53.4;MQRankSum=-2.794;QD=6.19;ReadPosRankSum=-1.596;SOR=0.643	GT:AD:DP:GQ:PL	0/1:3,351:539:99:11244,5295,14964	6	0	6	7
chr3	195782644	195782644	T	0	exonic;splicing	MUC4;MUC4	NM_001322468:exon8:c.8263+1A>0	.	.	.	776	656	77	2	11	92	0.0581479	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2273	1898.99	763	chr3	195782644	.	T	*	1898.99	.	AC=5;AF=0.227;AN=22;BaseQRankSum=3.18;DP=9257;ExcessHet=0.4971;FS=1.803;InbreedingCoeff=-0.0134;MLEAC=7;MLEAF=0.318;MQ=52.55;MQRankSum=-3.227;QD=0.69;ReadPosRankSum=1.25;SOR=0.873	GT:AD:DP:GQ:PL	0/1:267,341:625:99:7477,0,14608	6	0	5	8
chr3	195787234	195787234	G	0	exonic	MUC4	.	.	.	.	800	531	39	11	141	202	0.0543188	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	128.37	13	chr3	195787234	.	G	*	128.37	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-1.628;DP=361;ExcessHet=5.3738;FS=7.172;InbreedingCoeff=-0.2264;MLEAC=8;MLEAF=0.211;MQ=38.2;MQRankSum=-1.235;QD=1.18;ReadPosRankSum=-1.531;SOR=1.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,5:13:99:.:.:186,0,176:.	11	0	8	0
chr3	195787238	195787238	C	0	exonic	MUC4	.	.	.	.	932	298	197	67	28	359	0.357066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1875	4036.31	14	chr3	195787238	.	C	*	4036.31	.	AC=6;AF=0.188;AN=32;BaseQRankSum=2.39;DP=325;ExcessHet=0.0134;FS=2.32;InbreedingCoeff=0.4331;MLEAC=7;MLEAF=0.219;MQ=38.26;MQRankSum=0;QD=19.22;ReadPosRankSum=-0.449;SOR=0.934	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,5:13:99:0|1:195787238_C_*:508,313,363:195787238	10	0	6	3
chr3	195787579	195787579	G	0	exonic	MUC4	.	.	.	.	46	100	18	19	43	99	0.21875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3438	4502.91	22	chr3	195787579	.	G	*	4502.91	.	AC=11;AF=0.344;AN=32;DP=817;ExcessHet=0;FS=4.104;InbreedingCoeff=0.7912;MLEAC=13;MLEAF=0.406;MQ=51.17;QD=6.84;SOR=1.088	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,68:68:99:1|1:195787508_T_C:3060,205,0:195787508	10	5	1	3
chr3	195787584	195787584	A	0	exonic	MUC4	.	.	.	.	854	418	49	62	139	312	0.171457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4231	3569.69	15	chr3	195787584	.	A	*	3569.69	.	AC=11;AF=0.423;AN=26;DP=792;ExcessHet=0;FS=5.111;InbreedingCoeff=0.6864;MLEAC=15;MLEAF=0.577;MQ=50.02;QD=5.6;SOR=1.104	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,68:68:99:1|1:195787508_T_C:3060,205,0:195787508	7	5	1	6
chr3	195787598	195787601	GCAT	0	exonic	MUC4	.	.	.	.	748	628	1	6	139	152	0.0102443	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3438	725.76	4	chr3	195787598	.	GCAT	*	725.76	.	AC=11;AF=0.344;AN=32;DP=718;ExcessHet=0;FS=3.908;InbreedingCoeff=0.7404;MLEAC=14;MLEAF=0.438;MQ=42.8;QD=1.26;SOR=1.062	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,68:68:99:1|1:195787508_T_C:3060,205,0:195787508	10	5	1	3
chr3	195787599	195787599	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6538	31.65	4	chr3	195787599	.	C	*	31.65	.	AC=17;AF=0.654;AN=26;DP=716;ExcessHet=0;FS=3.908;InbreedingCoeff=0.6864;MLEAC=23;MLEAF=0.885;MQ=39;QD=0.06;SOR=1.067	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,68:68:99:1|1:195787508_T_C:3060,205,0:195787508	4	8	1	6
chr3	195787600	195787600	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6538	31.65	4	chr3	195787600	.	A	*	31.65	.	AC=17;AF=0.654;AN=26;DP=716;ExcessHet=0;FS=3.908;InbreedingCoeff=0.6864;MLEAC=23;MLEAF=0.885;MQ=39;QD=0.06;SOR=1.067	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,68:68:99:1|1:195787508_T_C:3060,205,0:195787508	4	8	1	6
chr3	195787858	195787905	GCTGCGGAAGGGATGGTTACAGGAAGAGAGGTGGCGTGATCTGTGGAC	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.3675_3722del:p.D1228_T1243del,MUC4:NM_001322468:exon4:c.3675_3722del:p.G1230_A4615delinsDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGHTTPLPVTDASSVPTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGQATPLPVTSLSSASTGDTTPLPVTDTSSASTGQDTPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSASTGQATPLPVTGPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHTTSLHVTSPSSASTGHATSLPVTDTSSVSTGHATPLHVTSPSSASTGDTTPLPVTDTYSASTGQATPLPVTDTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVFTGHATSLPVTIPSSASSGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPDTDTSSASTGHATPLPVTDTSSASTGHATLLPVTDTSSASIGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHANPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGQATALPVTSTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGHATPLHVTSPSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSASTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPLTSLSSVSTGDTTTLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPVTSLSSVSTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSRGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLPVTSTSSASTGHATSLPVTDTSSVSTGHATSLPVTDTSSVSTGHATPLPVTDASSVSTGHATPLPVTDASSASTGDTTPLPVTNTSSASTGQATPLPVTSLSSVSTGDTMPLPVTSPSSASTGHATPLPVTGLSSASTGDTTPLPVTDTSSASTGHVTPLPVTSLSSASTGDSTPLPVTDTSSASTGHVTPLPVTSLSSASTGDTTPLPVTDTSSASTGHATPLHVTDASSASTGQATLLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDTSSASTGHATPLPVTDASSVSTGHATSLPVTIRSSGSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTMPLPVTSPSSASTGDTTPLPVTDASSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTTSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHATPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATSLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLHVTDASSVSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTDTSSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGHTTSLPVTDASSVSTGHATSLPVTIPSSASSGHTTPLPVTDASSVPTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGQATPLPVTSLSSASSTGDTTPLPVTDTSSASTGQDTPLPVTSLFSVSTGDTTPLPVTSPSSASTGHATHLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSVSTGHATSLPVTDTSSASTGHATSLPVTDTSSASTGQATPLPVTSPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTSPSSASTGHATPLHVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTDVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHATSLHVTSPSSASTGHATPLPVTDTSAASTGHATPLPVTSTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATSLPVTDTSSASTGDTTSLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSLASTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSASTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVSDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSTGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLHVTSPSSSSTGQATPLPVTSTSSVSTGHVTPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTDASSVSTGHATPLPVTDTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGHATPLAVSSATSASTVSSDSPLKMETSGMTTPSLKTDGGRRTATSPPPTTSQTIISTIPSTAMHTRSTAAPIPILPERGVSLFPYGADAGDLEFVRRTVDFTSPLFKPATGFPLGSSLRDSLYFTDNGQIIFPESDYQIFSYPNPLPTGFTGRDPVALVAPFWDDADFSTGRGTTFYQEYETFYGEHSLLVQQAESWIRKMTNNGGYKARWALKVTWVNAHAYPAQWTLGSNTYQAILSTDGSRSYALFLYQSGGMQWDVAQRSGNPVLMGFSSGDGYFENSPLMSQPVWERYRPDRFLNSNSGLQGLQFYRLHREERPNYRLECLQWLKSQPRWPSWGWNQVSCPCSWQQGRRDLRFQPVSIGRWGLGSRQLCSFTSWRGGVCCSYGPWGEFREGWHVQRPWQLAQELEPQSWCCRWNDKPYLCALYQQRRPHVGCATYRPPQPAWMFGDPHITTLDGVSYTFNGLGDFLLVGAQDGNSSFLLQGRTAQTGSAQATNFIAFAAQYRSSSLGPVTVQWLLEPHDAIRVLLDNQTVTFQPDHEDGGGQETFNATGVLLSRNGSEVSASFDGWATVSVIALSNILHASASLPPEYQNRTEGLLGVWNNNPEDDFRMPNGSTIPPGSPEEMLFHFGMTWQINGTGLLGKRNDQLPSNFTPVFYSQLQKNSSWAEHLISNCDGDSSCIYDTLALRNASIGLHTREVSKNYEQANATLNQYPPSINGGRVIEAYKGQTTLIQYTSNAEDANFTLRDSCTDLELFENGTLLWTPKSLEPFTLEILARSAKIGLASALQPRTVVCHCNAESQCLYNQTSRVGNSSLEVAGCKCDGGTFGRYCEGSEDACEEPCFPSVHCVPGKGCEACPPNLTGDGRHCAALGSSFLCQNQSCPVNYCYNQGHCYISQTLGCQPMCTCPPAFTDSRCFLAGNNFSPTVNLELPLRVIQLLLSEEENASMAEVNASVAYRLGTLDMRAFLRNSQVERIDSAAPASGSPIQHWMVISEFQYRPRGPVIDFLNNQLLAAVVEAFLYHVPRRSEEPRNDVVFQPISGEDVRDVTALNVSTLKAYFRCDGYKGYDLVYSPQSGFTCVSPCSRGYCDHGGQCQHLPSGPRCSCVSFSIYTAWGEHCEHLSMKLDAFFGIFFGALGGLLLLGVGTFVVLRFWGCSGARFSYFLNSAEALP*	.	845	542	82	39	14	174	0.128617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0016	8.86e-05	0.0001	0.0002	8.685e-05	7.777e-05	7.503e-05	6.47e-05	0.0002	0.0001	0.0002	0.0001	0.0002	0	0.0001	0.0002	2.234e-05	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	3819.47	11	chr3	195787857	.	TGCTGCGGAAGGGATGGTTACAGGAAGAGAGGTGGCGTGATCTGTGGAC	T	3819.47	.	AC=2;AF=0.056;AN=36;BaseQRankSum=0.751;DP=307;ExcessHet=0.0378;FS=19.966;InbreedingCoeff=0.3451;MLEAC=2;MLEAF=0.056;MQ=35.96;MQRankSum=-1.117;QD=29.61;ReadPosRankSum=-0.735;SOR=4.496	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:0,4:23:99:.:.:818,680,828:.	16	0	2	1
chr3	195787858	195787858	G	0	exonic	MUC4	.	.	.	.	754	726	24	4	14	46	0.0215633	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	69.43	9	chr3	195787858	.	G	*	69.43	.	AC=2;AF=0.056;AN=36;DP=292;ExcessHet=0.0101;FS=12.075;InbreedingCoeff=0.3028;MLEAC=2;MLEAF=0.056;MQ=38.14;QD=5.79;SOR=3.502	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,4:23:89:.:.:138,0,148:.	16	0	2	1
chr3	195787862	195787862	C	0	exonic	MUC4	.	.	.	.	915	430	100	76	1	253	0.226619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05882	3202.6	13	chr3	195787862	.	C	*	3202.6	.	AC=2;AF=0.059;AN=34;BaseQRankSum=0.571;DP=289;ExcessHet=0.0393;FS=17.151;InbreedingCoeff=0.3513;MLEAC=2;MLEAF=0.059;MQ=35.8;MQRankSum=-1.266;QD=25.02;ReadPosRankSum=0.468;SOR=4.091	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,4:12:99:0|1:195787862_C_*:504,336,324:195787862	15	0	2	2
chr3	195787897	195787897	T	0	exonic	MUC4	.	.	.	.	830	484	108	98	2	306	0.238994	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05882	4448.9	27	chr3	195787897	.	T	*	4448.9	.	AC=2;AF=0.059;AN=34;BaseQRankSum=-0.327;DP=435;ExcessHet=0.0393;FS=10.484;InbreedingCoeff=0.3966;MLEAC=2;MLEAF=0.059;MQ=36.09;MQRankSum=-1.533;QD=22.13;ReadPosRankSum=1.04;SOR=3.298	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:0,4:20:99:.:.:735,593,660:.	15	0	2	2
chr3	195788132	195788132	T	0	exonic	MUC4	.	.	.	.	595	698	124	3	102	232	0.08519	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09091	5594.28	1027	chr3	195788132	.	T	*	5594.28	.	AC=2;AF=0.091;AN=22;BaseQRankSum=2.91;DP=5429;ExcessHet=1.7113;FS=2.868;InbreedingCoeff=-0.0662;MLEAC=3;MLEAF=0.136;MQ=52.31;MQRankSum=-7.356;QD=2.39;ReadPosRankSum=-0.022;SOR=0.945	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:398,227:625:99:0|1:195788077_G_A:6581,0,15530:195788077	9	0	2	8
chr3	195788137	195788137	C	0	exonic	MUC4	.	.	.	.	502	872	56	8	84	156	0.0396476	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	3918.26	1027	chr3	195788137	.	C	*	3918.26	.	AC=2;AF=0.063;AN=32;BaseQRankSum=1.12;DP=4189;ExcessHet=0.3364;FS=0.558;InbreedingCoeff=0.1389;MLEAC=2;MLEAF=0.063;MQ=53.33;MQRankSum=2.64;QD=2.34;ReadPosRankSum=0.21;SOR=0.781	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:1,218:240:99:.:.:8436,737,601:.	14	0	2	3
chr3	197142732	197142732	T	C	exonic	DLG1	.	nonsynonymous SNV	DLG1:NM_001204387:exon3:c.A325G:p.I109V,DLG1:NM_001204388:exon3:c.A325G:p.I109V,DLG1:NM_001366221:exon4:c.A424G:p.I142V,DLG1:NM_001366222:exon4:c.A424G:p.I142V,DLG1:NM_001366203:exon6:c.A520G:p.I174V,DLG1:NM_001366206:exon6:c.A520G:p.I174V,DLG1:NM_001366216:exon6:c.A520G:p.I174V,DLG1:NM_001366219:exon6:c.A520G:p.I174V,DLG1:NM_001366220:exon6:c.A520G:p.I174V,DLG1:NM_001204386:exon7:c.A574G:p.I192V,DLG1:NM_001363865:exon7:c.A574G:p.I192V,DLG1:NM_001366204:exon7:c.A574G:p.I192V,DLG1:NM_001366205:exon7:c.A574G:p.I192V,DLG1:NM_001366207:exon7:c.A574G:p.I192V,DLG1:NM_001366208:exon7:c.A574G:p.I192V,DLG1:NM_001366209:exon7:c.A574G:p.I192V,DLG1:NM_001366210:exon7:c.A574G:p.I192V,DLG1:NM_001366211:exon7:c.A574G:p.I192V,DLG1:NM_001366212:exon7:c.A574G:p.I192V,DLG1:NM_001366213:exon7:c.A574G:p.I192V,DLG1:NM_001366215:exon7:c.A574G:p.I192V,DLG1:NM_001366217:exon7:c.A574G:p.I192V,DLG1:NM_001098424:exon8:c.A673G:p.I225V,DLG1:NM_001290983:exon8:c.A673G:p.I225V,DLG1:NM_001366214:exon8:c.A673G:p.I225V,DLG1:NM_001366218:exon8:c.A673G:p.I225V,DLG1:NM_004087:exon8:c.A673G:p.I225V	.	24	1492	6	0	0	6	0.00200669	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	0.0127023113203	.	0.000199681	0.0004	0	0.0003	0	0	0.0001	0.0011	0.0025	0.0003558	55	154602	rs562094599	0.0002	0.0002	0.0001	0.0002	0.0020	0.0002	0.0001	0.0018	0.0017	0	0.0004	3.835e-05	0	0	0.0007	3.695e-05	0.0003	0.0020	0.0001	0.0001	8.992e-05	0.0002	0.0017	9.735e-05	8.25e-05	0.0008	0.0006	0	0	0.0007	0	0	0	0	5.88e-05	0	0.0017	0.135	0.37536	T	0.177	0.43721	T	0.984	0.60733	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.15	0.08895	N	1.78	0.25678	T	-0.84	0.24676	N	0.496	0.57946	-1.0595	0.11880	T	0.080	0.31824	T	10	0.022341877	0.00555	T	0.012702	0.31501	T	0.172	0.43662	0.482	0.56302	0.373217324921	0.36936	0.3489429753305964	0.34808	0.307434405692	0.33039	0.788109838963	0.80155	T	0.256253	0.62714	T	-0.376154	0.03294	T	-0.31988	0.42587	T	0.147298677308122	0.16887	T	0.962204	0.85735	D	0.36413282	0.58149	0.26848832	0.52718	0.36413282	0.58149	0.26848832	0.52717	-7.52	0.65484	D	.	.	0.441	0.64768	A	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	3.967599	0.58234	24.0	0.99761908464974558	0.85172	0.98931	0.88793	D	AEFGBI	0.895224	0.83502	D	0.383524556899122	0.60530	4.24279	0.473856897549177	0.66263	4.929342	0.99999991135709	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.37	5.37	0.76949	7.674000	0.83146	6.152000	0.54210	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	14.840	0.69849	898	0.25240	.;PDZ domain|PDZ domain;PDZ domain|PDZ domain;.;.;PDZ domain|PDZ domain;.;.;.;PDZ domain|PDZ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	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	0.003788	0.05263	2011.81	40	chr3	197142732	.	T	C	2011.81	.	AC=2;AF=0.053;AN=38;DP=729;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=28.74;SOR=0.874	GT:AD:DP:GQ:PL	1/1:0,70:70:99:2039,210,0	18	1	0	0
chr4	683263	683263	C	G	exonic	SLC49A3	.	nonsynonymous SNV	SLC49A3:NM_001294342:exon6:c.G744C:p.E248D,SLC49A3:NM_001378059:exon6:c.G810C:p.E270D,SLC49A3:NM_001378060:exon6:c.G807C:p.E269D,SLC49A3:NM_001378062:exon6:c.G741C:p.E247D,SLC49A3:NM_001378061:exon7:c.G864C:p.E288D,SLC49A3:NM_001294341:exon8:c.G1101C:p.E367D,SLC49A3:NM_032219:exon8:c.G1098C:p.E366D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.404	0.0881293284109	.	.	.	.	.	.	.	.	.	.	.	.	.	rs762229082	6.847e-06	6.84e-06	1.09e-05	2.753e-06	0.0002	3.46e-06	2.52e-06	0.0001	8.775e-05	0	0	0	0.0002	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.031	0.92824	D	1.0	0.90584	D	0.994	0.92359	D	0.000000	0.84330	D	0.051238	0.92326	0.36741	D	.	.	.	0.2	0.60111	T	-2.91	0.60982	D	0.836	0.89353	-0.2946	0.75136	T	0.388	0.74320	T	10	0.58678776	0.66156	D	0.088129	0.75073	D	0.404	0.71714	0.486	0.56939	0.481764910267	0.47805	0.7369957987052639	0.73644	0.407320109327	0.41596	0.668996274471	0.62694	T	0.549357	0.84713	D	0.116399	0.66009	D	-0.0705775	0.65585	T	0.848496675491333	0.50036	D	0.90461	0.66442	D	0.60056776	0.72721	0.43808076	0.67206	0.60056776	0.72722	0.43808076	0.67206	-5.721	0.53814	T	.	.	0.784	0.81604	P	.;.;.;.;.;.	.;.;.;.;.;.	2.681555	0.34985	19.78	0.99833876398783694	0.91542	0.53318	0.29343	D	AEFDBHCI	0.288698	0.40052	N	0.165340216156552	0.49541	3.153297	-0.00591728904100658	0.39447	2.339057	0.999999438154617	0.74766	0.660377	0.49826	0	0.550933	0.16991	0	0.696353	0.63694	0	0.604944	0.38103	0	.	.	4.52	1.79	0.23992	0.579000	0.23490	.	.	-0.781000	0.03322	0.998000	0.41325	1.000000	0.68203	0.003000	0.05239	0.0:0.6862:0.0:0.3138	6.356	0.20604	830	0.39242	.;.;Major facilitator superfamily domain;Major facilitator superfamily domain;Major facilitator superfamily domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2028.33	34	chr4	683263	.	C	G	2028.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.956;DP=882;ExcessHet=0;FS=3.997;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.04;ReadPosRankSum=-0.241;SOR=0.864	GT:AD:DP:GQ:PL	0/1:111,91:202:99:2042,0,2920	18	0	1	0
chr4	990226	990226	C	T	exonic	SLC26A1	.	nonsynonymous SNV	SLC26A1:NM_022042:exon3:c.G713A:p.R238Q,SLC26A1:NM_213613:exon4:c.G713A:p.R238Q	.	.	.	.	.	.	.	.	.	.	.	3046115	Inborn_genetic_diseases|not_provided|Hypersulfaturia|Nephrolithiasis_susceptibility_caused_by_SLC26A1	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0957268,MedGen:C5830511,OMIM:620372|MONDO:MONDO:0020722,MedGen:C5779632,OMIM:167030	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.756	0.21485119747	7.8e-05	.	4.095e-05	0	0	0	0	8.909e-05	0	0	8.41e-05	13	154602	rs200857252	0.0001	0.0001	0.0001	0.0001	0.0001	9.399e-05	8.914e-05	0.0001	0.0001	0	0	0	0	4.071e-05	0	0.0001	0.0001	2.48e-05	3.284e-05	3.283e-05	3.853e-05	2.689e-05	0.0002	1.26e-05	7.98e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.879e-05	0	0.0002	0.016	0.51853	D	0.006	0.70582	D	0.935	0.52277	P	0.668	0.53048	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.665	0.77964	M	-3.24	0.93474	D	-3.51	0.68298	D	0.464	0.50418	0.879	0.95398	D	0.847	0.94878	D	10	0.6479009	0.69433	D	0.214851	0.87478	D	0.756	0.91668	.	.	0.924042124721	0.92327	0.7508138612512643	0.75028	0.327190081899	0.34854	0.49987244606	0.38810	T	0.661119	0.89832	D	0.0590163	0.59489	T	0.0128525	0.71166	D	0.925995886325836	0.58803	D	0.868713	0.57175	D	0.48594895	0.66259	0.32440868	0.58365	0.48594895	0.66260	0.32440868	0.58365	-7.242	0.55782	T	0.3640853767393685	0.46025	0.111	0.21578	B	.;.	.;.	4.363771	0.67123	25.1	0.99931741703462007	0.99387	0.93922	0.59581	D	AEFBCI	.	.	.	0.545043359619039	0.69781	5.405954	0.490007839716595	0.67327	5.069099	0.999999999999802	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.491896	0.07777	0	.	.	4.82	4.82	0.61641	4.943000	0.63255	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.313000	0.24807	0.0:1.0:0.0:0.0	15.405	0.74593	799	0.44747	SLC26A/SulP transporter domain;SLC26A/SulP transporter domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1461.33	42	chr4	990226	.	C	T	1461.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.06;DP=782;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.61;ReadPosRankSum=-0.371;SOR=0.676	GT:AD:DP:GQ:PL	0/1:35,53:88:99:1475,0,861	18	0	1	0
chr4	2941692	2941692	G	A	exonic	NOP14	.	nonsynonymous SNV	NOP14:NM_001291978:exon15:c.C2089T:p.R697C,NOP14:NM_001291979:exon15:c.C2089T:p.R697C,NOP14:NM_003703:exon15:c.C2089T:p.R697C	.	404	1092	26	0	0	26	0.0117647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.213	.	0.0032	0.00878594	0.0088	0.0005	0.0044	0.0019	0.0106	0.0077	0.0092	0.0248	0.007736	1196	154602	rs61740573	0.0062	0.0062	0.0057	0.0067	0.0298	0.0061	0.0060	0.0261	0.0247	0.0018	0.0044	0.0296	0.0008	0.0102	0.0298	0.0045	0.0080	0.0204	0.0055	0.0055	0.0048	0.0061	0.0236	0.0052	0.0050	0.0201	0.0188	0.0010	0	0.0046	0.0328	0.0015	0.0100	0.0170	0.0051	0.0118	0.0236	0.015	0.58626	D	0.003	0.79402	D	1.0	0.90584	D	0.91	0.66185	D	0.000073	0.52346	D	0.124363	0.52763	0.31517	N	3.055	0.86842	M	1.46	0.32238	T	-4.09	0.75375	D	0.475	0.51315	-0.5549	0.66599	T	0.138	0.45526	T	10	0.0066779554	0.00151	T	.	.	.	0.213	0.50496	.	.	0.527809512145	0.52428	0.4969263051077896	0.49613	0.4632225215	0.45833	0.259536594152	0.04836	T	0.070444	0.33961	T	-0.400888	0.02284	T	-0.331705	0.41280	T	0.0351601588212269	0.02836	T	0.926207	0.72857	D	0.25870398	0.48920	0.1932095	0.42877	0.25870398	0.48920	0.1932095	0.42876	-7.67	0.58799	D	.	.	0.087	0.23148	B	.;.;.;.	.;.;.;.	4.515894	0.70766	25.6	0.99881421728566111	0.95733	0.70493	0.34613	D	AEFDBHCI	0.141967	0.26429	N	0.29330149020774	0.55808	3.744946	0.141584442563453	0.46698	2.911595	0.999999848330045	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.67	3.81	0.43020	1.589000	0.36253	6.314000	0.55434	0.676000	0.76740	0.982000	0.35529	0.998000	0.33993	0.016000	0.10718	0.0:0.0:0.6387:0.3613	13.313	0.59830	624	0.65661	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.027273	0.025773	0.033967	0.035088	0.100000	0.051724	0.018405	0.003788	0.05263	1710.83	40	chr4	2941692	.	G	A	1710.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.03;DP=801;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=0.486;SOR=0.699	GT:AD:DP:GQ:PL	0/1:36,27:63:99:709,0,898	17	0	2	0
chr4	3022431	3022431	A	C	exonic	GRK4	.	nonsynonymous SNV	GRK4:NM_001350173:exon8:c.A368C:p.N123T,GRK4:NM_001004056:exon9:c.A854C:p.N285T,GRK4:NM_005307:exon9:c.A854C:p.N285T,GRK4:NM_001004057:exon10:c.A950C:p.N317T,GRK4:NM_182982:exon10:c.A950C:p.N317T	.	419	1090	13	0	0	13	0.00592795	.	.	.	2385522	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.912	0.107602439707	0.0005	0.000399361	0.0010	0.0002	0.0022	0	0	0.0011	0.0022	0.0010	0.0009702	150	154602	rs139428941	0.0009	0.0009	0.0008	0.0009	0.0194	0.0008	0.0008	0.0165	0.0154	0.0009	0.0018	0.0097	0	3.744e-05	0.0194	0.0005	0.0016	0.0011	0.0008	0.0008	0.0008	0.0008	0.0012	0.0007	0.0006	0.0008	0.0006	0.0002	0	0.0012	0.0118	0	9.414e-05	0.0102	0.0006	0.0019	0.0012	0.0	0.91255	D	0.026	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	U	0.000000	1	0.81001	D	3.825	0.95591	H	-2.95	0.91903	D	-5.94	0.89093	D	0.968	0.99260	1.071	0.98625	D	0.916	0.97233	D	10	0.13934132	0.26494	T	0.107602	0.78376	D	0.912	0.97662	.	.	0.980505126295	0.98029	0.8717288043742755	0.87138	0.386592268345	0.39947	0.687632679939	0.65365	T	0.555156	0.85008	D	0.0097665	0.52993	T	0.222238	0.84287	D	0.19505141667276	0.20138	T	0.991521	0.97327	D	0.98826945	0.99670	0.9707945	0.99499	0.98826945	0.99670	0.9707945	0.99499	-16.229	0.98157	D	.	.	0.980	0.91323	P	.;.;.;.	.;.;.;.	5.279924	0.88650	29.7	0.99657140226339036	0.77694	0.99483	0.96582	D	AEFDBI	0.869137	0.78954	D	0.977606637809397	0.95014	13.23348	0.88832381809931	0.95042	13.26109	0.999999999232096	0.74766	0.549168	0.22868	0	0.624146	0.53433	0	0.547309	0.15389	0	0.616125	0.45549	0	.	.	5.56	5.56	0.83678	8.678000	0.90939	10.603000	0.83475	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	14.890	0.70237	628	0.65206	.;Protein kinase domain|Protein kinase domain|Protein kinase domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.017120	0.010101	0.024457	0.032164	0.000000	0.043103	0.003049	0.000000	0.02632	921.33	41	chr4	3022431	.	A	C	921.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.73;DP=757;ExcessHet=0;FS=5.122;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.5;ReadPosRankSum=-1.439;SOR=0.813	GT:AD:DP:GQ:PL	0/1:56,41:97:99:935,0,1449	18	0	1	0
chr4	3074927	3074927	G	0	exonic	HTT	.	.	.	Huntington disease, Autosomal dominant	4	1369	54	4	91	153	0.0221429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	153.78	40	chr4	3074927	.	G	*	153.78	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-0.204;DP=935;ExcessHet=2.0135;FS=2.431;InbreedingCoeff=-0.1875;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=0.73;ReadPosRankSum=2.19;SOR=0.884	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:17,26:43:99:1|0:3074876_C_CCAGCAGCAGCAG:1010,0,626:3074876	14	0	5	0
chr4	6011901	6011901	C	T	exonic	C4orf50	.	nonsynonymous SNV	C4orf50:NM_001364689:exon2:c.G355A:p.A119T,C4orf50:NM_001364690:exon2:c.G355A:p.A119T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.771e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09870681	0.17865	T	.	.	.	.	.	.	.	.	.	0.005534262017010919	0.00523	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.346465	0.07620	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.16010	B	.	.	0.600319	0.09690	6.458	0.68049005443866795	0.08539	0.04564	0.10207	N	AEFDBHCI	.	.	.	.	.	.	.	.	.	0.0231145588073845	0.13483	0.055982	0.00716	0	0.063554	0.01753	0	0.072005	0.02045	0	0.062806	0.01542	0	0.193681	0.30133	4.29	-1.55	0.08105	-0.581000	0.05913	-0.434000	0.09203	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.096000	0.18090	0.2549:0.2778:0.2209:0.2464	0.190	0.00123	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	35.3	.	chr4	6011901	.	C	T	35.3	.	AC=2;AF=0.083;AN=24;DP=40;ExcessHet=0;FS=0;InbreedingCoeff=0.3785;MLEAC=2;MLEAF=0.083;MQ=60;QD=17.65;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	11	1	0	7
chr4	6862306	6862306	T	C	exonic	KIAA0232	.	nonsynonymous SNV	KIAA0232:NM_001100590:exon6:c.T1924C:p.S642P,KIAA0232:NM_014743:exon7:c.T1924C:p.S642P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.00517274981781	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1049661710	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.005	0.63226	D	0.024	0.56640	D	0.01	0.15535	B	0.01	0.14941	B	0.002610	0.36243	N	0.335799	0.997385	0.43845	D	1.845	0.48678	L	.	.	.	-1.21	0.30762	N	0.255	0.28849	-0.8699	0.50537	T	0.178	0.52350	T	9	0.10915744	0.20352	T	0.005173	0.13156	T	0.057	0.16321	0.471	0.54537	0.0675242888579	0.06100	0.46100661359438516	0.46018	0.236252140533	0.26164	0.507156848907	0.39825	T	0.032907	0.22691	T	-0.0647136	0.42169	T	-0.330733	0.41388	T	0.740678250789642	0.42773	D	0.785921	0.42389	T	0.33447877	0.55835	0.22762217	0.47778	0.33447877	0.55835	0.22762217	0.47777	-4.395	0.29489	T	.	.	0.096	0.18950	B	.;.	.;.	2.849310	0.37614	20.5	0.99790826753695638	0.87661	0.97746	0.76833	D	AEFBI	0.619401	0.60485	D	-0.157216252661344	0.34928	1.999906	-0.0453646344165534	0.37692	2.210343	0.99990703318278	0.45458	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.73	1.7	0.23359	2.683000	0.46609	0.685000	0.20714	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0737:0.2877:0.6386	6.857	0.23230	682	0.59757	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4737	6195.3	135	chr4	6862306	.	T	C	6195.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-3.635;DP=2656;ExcessHet=38.2876;FS=246.725;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=2.43;ReadPosRankSum=1.38;SOR=13.192	GT:AD:DP:GQ:PL	0/1:97,45:142:99:373,0,2286	1	0	18	0
chr4	8604133	8604133	C	A	exonic	CPZ	.	nonsynonymous SNV	CPZ:NM_003652:exon3:c.C621A:p.D207E,CPZ:NM_001014447:exon4:c.C654A:p.D218E,CPZ:NM_001014448:exon4:c.C243A:p.D81E	.	422	1049	27	1	23	52	0.0136342	.	.	.	3206958	CPZ-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.082	.	.	0.00359425	0.0113	0.0042	0.0118	0	0.0012	0.0158	0.0209	0.0077	0.0059249	916	154602	rs28421391	0.0081	0.0081	0.0080	0.0082	0.0329	0.0080	0.0080	0.0290	0.0275	0.0026	0.0069	0.0191	2.597e-05	0.0011	0.0329	0.0087	0.0089	0.0060	0.0064	0.0064	0.0068	0.0061	0.0094	0.0061	0.0060	0.0082	0.0079	0.0028	0	0.0094	0.0138	0	0.0007	0.0408	0.0087	0.0118	0.0077	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.002	0.06944	B	0.030854	0.25250	N	0.435749	1	0.81001	D	-2.86	0.00020	N	3.38	0.05778	T	1.52	0.00719	N	0.104	0.08786	-0.9370	0.43088	T	0.002	0.00676	T	10	0.0054033995	0.00119	T	.	.	.	0.082	0.23913	0.377	0.39156	0.371718192555	0.36778	0.4251529541912322	0.42432	0.00378164286504	0.00325	0.465445458889	0.34057	T	0.014025	0.12018	T	-0.67938	0.00048	T	-0.741694	0.03820	T	0.0090220682863954	0.00113	T	0.558744	0.19484	T	0.023960322	0.01182	0.026698772	0.00774	0.03801165	0.04983	0.026698772	0.00774	0.284	0.00274	T	0.04000093292292632	0.00342	0.079	0.14751	B	.;.;.	.;.;.	-1.540176	0.00272	0.004	0.92848179743538006	0.22386	0.06174	0.12157	N	AEFDBHCI	0.068660	0.13554	N	-1.52204740467275	0.01705	0.07463004	-1.38926570228566	0.03365	0.1568363	0.99825109803091	0.36648	0.718356	0.82227	0	0.547309	0.14657	0	0.570548	0.19454	0	0.613276	0.41899	0	.	.	3.86	-3.98	0.03810	-1.293000	0.02878	-11.402000	0.00608	-0.185000	0.09859	0.005000	0.17040	0.000000	0.08366	0.818000	0.38543	0.3608:0.1816:0.1947:0.2629	0.154	0.00090	982	0.03397	Peptidase M14, carboxypeptidase A|Peptidase M14, carboxypeptidase A|Metallocarboxypeptidase Z, carboxypeptidase domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	921.33	37	chr4	8604133	.	C	A	921.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.87;DP=717;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.16;ReadPosRankSum=-0.624;SOR=0.601	GT:AD:DP:GQ:PL	0/1:37,33:70:99:935,0,888	18	0	1	0
chr4	8612035	8612035	G	T	exonic	CPZ	.	nonsynonymous SNV	CPZ:NM_003652:exon7:c.G1203T:p.K401N,CPZ:NM_001014447:exon8:c.G1236T:p.K412N,CPZ:NM_001014448:exon8:c.G825T:p.K275N	.	429	1031	57	5	0	67	0.0314702	.	.	.	3210197	CPZ-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.167	.	0.0018	0.00938498	0.0060	0.0002	0.0016	0	0.0002	0.0025	0.0113	0.0326	0.0054333	840	154602	rs147588134	0.0037	0.0037	0.0027	0.0047	0.0326	0.0036	0.0036	0.0316	0.0312	0.0003	0.0022	0.0050	7.557e-05	0.0003	0.0170	0.0017	0.0049	0.0326	0.0027	0.0027	0.0024	0.0031	0.0328	0.0025	0.0024	0.0286	0.0270	0.0004	0.0011	0.0035	0.0049	0.0002	0.0002	0.0272	0.0021	0.0062	0.0328	0.002	0.72154	D	0.007	0.70582	D	0.988	0.64738	D	0.932	0.66722	D	0.000094	0.51296	U	0.169417	0.874553	0.35628	D	3.36	0.91202	M	2.71	0.12055	T	-3.04	0.64826	D	0.739	0.73916	-1.0183	0.24269	T	0.061	0.25563	T	10	0.006847203	0.00156	T	.	.	.	0.167	0.42761	0.538	0.64874	0.221019684889	0.21715	0.8342579297678895	0.83384	0.0121608488562	0.01158	0.535313785076	0.43783	T	0.163735	0.50891	T	-0.449663	0.01134	T	-0.394311	0.34046	T	0.0589441289532621	0.07000	T	0.791621	0.43272	T	0.79185885	0.83389	0.6615037	0.80165	0.7905499	0.83309	0.6615037	0.80165	-9.596	0.71455	D	0.5773041222848564	0.64423	0.643	0.71505	P	.;.;.	.;.;.	3.735368	0.53455	23.4	0.99758725900344469	0.84851	0.88154	0.47958	D	AEFBCI	0.492857	0.52932	N	0.224873122376152	0.52407	3.415049	0.122245908937183	0.45689	2.827621	0.461819498697238	0.20630	0.650006	0.45971	0	0.573888	0.26702	0	0.606735	0.37207	0	0.604944	0.38103	0	.	.	4.1	2.36	0.28258	1.955000	0.39997	6.090000	0.53436	-0.169000	0.11342	0.999000	0.42656	1.000000	0.68203	0.990000	0.65344	0.2816:0.0:0.7184:0.0	8.690	0.33424	982	0.03397	Peptidase M14, carboxypeptidase A|Peptidase M14, carboxypeptidase A|Metallocarboxypeptidase Z, carboxypeptidase domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.017120	0.005051	0.010870	0.011696	0.000000	0.025862	0.036585	0.034091	0.02632	4144.33	36	chr4	8612035	.	G	T	4144.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.605;DP=1145;ExcessHet=0;FS=2.158;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.55;ReadPosRankSum=-0.619;SOR=0.581	GT:AD:DP:GQ:PL	0/1:207,186:393:99:4158,0,4835	18	0	1	0
chr4	10444541	10444541	C	G	exonic	ZNF518B	.	nonsynonymous SNV	ZNF518B:NM_001375817:exon2:c.G1788C:p.E596D,ZNF518B:NM_001375816:exon3:c.G1788C:p.E596D,ZNF518B:NM_053042:exon3:c.G1788C:p.E596D	.	430	1088	4	0	0	4	0.00183486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	.	.	0.00239617	0.0012	0	0.0006	0	0	0.0001	0	0.0081	0.0010543	163	154602	rs527390357	0.0005	0.0005	0.0003	0.0008	0.0076	0.0005	0.0005	0.0071	0.0069	0	0.0004	0	2.519e-05	0	0.0010	3.597e-05	0.0006	0.0076	0.0003	0.0003	0.0001	0.0004	0.0079	0.0002	0.0002	0.0059	0.0052	2.405e-05	0	6.539e-05	0	0.0002	0	0	1.47e-05	0	0.0079	0.0	0.91255	D	0.109	0.37449	T	0.779	0.44223	P	0.141	0.33616	B	0.017949	0.27599	N	0.253623	1	0.08975	N	1.04	0.26193	L	4.22	0.02640	T	-0.48	0.15379	N	0.144	0.14480	-0.8948	0.48502	T	0.006	0.02093	T	10	0.0049033165	0.00105	T	.	.	.	0.064	0.18567	0.195	0.10705	0.043077524339	0.03247	0.16471556355218106	0.16391	0.115428939008	0.13013	0.349755883217	0.17886	T	0.054229	0.29664	T	-0.47944	0.00745	T	-0.456331	0.27000	T	0.0715240929113961	0.08863	T	0.669433	0.27806	T	0.17226855	0.37908	0.10538454	0.25331	0.17226855	0.37907	0.10538454	0.25331	-3.59	0.17713	T	.	.	0.148	0.32780	B	.	.	1.978222	0.25134	16.65	0.99757571145131174	0.84772	0.37479	0.25771	N	AEFBCI	0.054974	0.10041	N	-0.294459211348751	0.29361	1.627574	-0.307791238519557	0.27846	1.548097	0.129708740320261	0.17065	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.35	1.28	0.20656	0.157000	0.16219	-0.262000	0.10418	0.599000	0.40250	0.016000	0.19238	0.253000	0.23932	0.686000	0.33718	0.0:0.4094:0.1796:0.411	4.380	0.10721	580	0.69689	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1744.33	154	chr4	10444541	.	C	G	1744.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.55;DP=1034;ExcessHet=0;FS=0.621;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.46;ReadPosRankSum=1.35;SOR=0.759	GT:AD:DP:GQ:PL	0/1:75,65:140:99:1758,0,2101	18	0	1	0
chr4	38051978	38051978	C	T	exonic	TBC1D1	.	nonsynonymous SNV	TBC1D1:NM_001253912:exon12:c.C1990T:p.P664S	.	411	1094	16	1	0	18	0.00815956	.	.	.	777448	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.087	.	.	0.00838658	0.0077	0.0052	0.0068	0.0205	0	0.0007	0.0097	0.0140	0.0013648	211	154602	rs117452860	0.0023	0.0022	0.0020	0.0026	0.0278	0.0022	0.0022	0.0264	0.0258	0.0029	0.0099	0.0021	0.0278	0	0.0082	0.0002	0.0036	0.0153	0.0027	0.0027	0.0028	0.0026	0.0151	0.0025	0.0024	0.0123	0.0113	0.0038	0	0.0051	0.0017	0.0147	0	0	0.0003	0.0024	0.0151	0.299	0.14546	T	0.218	0.26066	T	.	.	.	.	.	.	.	.	.	.	0.999335	0.81001	D	.	.	.	3.62	0.04399	T	-0.32	0.12283	N	0.774	0.77132	-0.7079	0.60056	T	0.004	0.01192	T	8	0.0065568388	0.00149	T	.	.	.	0.087	0.25287	.	.	0.269111216191	0.26524	.	.	.	.	.	.	.	.	.	.	-0.5521	0.00283	T	-0.554154	0.16929	T	0.0100619775686471	0.00135	T	0.835616	0.50622	T	.	.	.	.	.	.	.	.	-3.455	0.15807	T	.	.	0.155	0.34339	B	.	.	2.873209	0.37996	20.6	0.98515519287653175	0.42398	0.86718	0.46059	D	AEFBIJ	0.386185	0.46665	N	0.19164663519664	0.50798	3.266462	0.312551521042106	0.56277	3.79076	0.999999949810211	0.74766	0.744818	0.98587	0	0.546412	0.12157	0	0.732433	0.93434	0	0.447301	0.06993	0	.	.	5.65	5.65	0.86881	5.203000	0.65009	5.994000	0.52377	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.950000	0.49671	0.0:0.9261:0.0:0.0739	12.993	0.58033	772	0.48957	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1137.33	42	chr4	38051978	.	C	T	1137.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.434;DP=726;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.58;ReadPosRankSum=-0.812;SOR=0.614	GT:AD:DP:GQ:PL	0/1:26,47:73:99:1151,0,748	18	0	1	0
chr4	38827699	38827699	C	A	exonic	TLR6	.	nonsynonymous SNV	TLR6:NM_006068:exon2:c.G1775T:p.G592V	.	417	1099	6	0	0	6	0.00272232	.	.	.	698512	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.066	.	.	0.0175719	0.0059	0.0010	0.0009	0.0366	0	0.0002	0.0066	0.0216	0.0009961	154	154602	rs75244616	0.0028	0.0028	0.0022	0.0034	0.0421	0.0028	0.0027	0.0404	0.0398	0.0011	0.0019	0	0.0421	7.488e-05	0.0012	0.0002	0.0042	0.0220	0.0033	0.0033	0.0025	0.0041	0.0392	0.0030	0.0029	0.0348	0.0331	0.0012	0	0.0051	0	0.0392	0	0	0.0003	0.0038	0.0291	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.912527	0.08543	N	0.956080	0.999994	0.08975	N	0.43	0.12624	N	2.98	0.09356	T	2.13	0.00351	N	0.108	0.11197	-0.9248	0.44886	T	0.003	0.01092	T	10	0.0022054613	0.00032	T	.	.	.	0.066	0.19193	.	.	0.204665344411	0.20097	0.45608357894202817	0.45526	0.190400828825	0.21358	0.256260871887	0.04455	T	0.043897	0.26645	T	-0.674208	0.00052	T	-0.713367	0.05123	T	0.00657026962814018	0.00073	T	0.721628	0.33490	T	0.045740668	0.07538	0.052120097	0.08525	0.045740668	0.07538	0.052120097	0.08524	-2.6	0.06504	T	.	.	0.067	0.02488	B	.;.	.;.	-0.649643	0.01442	0.087	0.70143489522614688	0.09200	0.02013	0.06052	N	AEFGBCI	0.079412	0.16038	N	-1.55655873388084	0.01497	0.06534418	-1.58512605036981	0.01746	0.07941653	0.877453039579223	0.25546	0.67177	0.52595	0	0.702456	0.74545	0	0.547309	0.15389	0	0.616125	0.45549	0	.	.	4.2	-4.9	0.02866	0.525000	0.22664	-2.184000	0.04090	-0.985000	0.01878	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.7852:0.1278:0.087:0.0	14.140	0.64846	670	0.60992	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002518	0.000000	0.002717	0.002924	0.000000	0.000000	0.000000	0.011364	0.02632	2932.33	33	chr4	38827699	.	C	A	2932.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.601;DP=1227;ExcessHet=0;FS=5.026;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.85;MQRankSum=-7.038;QD=15.19;ReadPosRankSum=-0.961;SOR=0.817	GT:AD:DP:GQ:PL	0/1:89,104:193:99:2946,0,2469	18	0	1	0
chr4	39277025	39277025	C	T	exonic	WDR19	.	nonsynonymous SNV	WDR19:NM_001317924:exon33:c.C3242T:p.P1081L,WDR19:NM_025132:exon34:c.C3722T:p.P1241L	Nephronophthisis 13, Autosomal recessive;Senior-Loken syndrome 8, Autosomal recessive	2	1518	2	0	0	2	0.000658328	.	.	YES	298413	WDR19-related_disorder|not_provided|Nephronophthisis_13|Cranioectodermal_dysplasia_4|Asphyxiating_thoracic_dystrophy_5|Bardet-Biedl_syndrome|Senior-Loken_syndrome_8	.|MedGen:C3661900|MONDO:MONDO:0013718,MedGen:C3280612,OMIM:614377,Orphanet:655|MONDO:MONDO:0013719,MedGen:C3280616,OMIM:614378,Orphanet:1515|MONDO:MONDO:0013717,MedGen:C3280598,OMIM:614376,Orphanet:474|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110|MONDO:MONDO:0014579,MedGen:C4225376,OMIM:616307,Orphanet:3156	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.303	0.0839820763914	.	0.00139776	0.0008	0	8.639e-05	0	0	0	0.0011	0.0056	0.0006662	103	154602	rs576113399	0.0004	0.0004	0.0002	0.0006	0.0068	0.0004	0.0004	0.0064	0.0062	0	0	0	0	0	0.0002	3.598e-06	0.0002	0.0068	0.0002	0.0002	8.996e-05	0.0003	0.0048	0.0001	0.0001	0.0033	0.0028	9.625e-05	0	0	0	0	0	0	0	0	0.0048	0.004	0.65419	D	0.013	0.63109	D	0.954	0.54400	P	0.662	0.52860	P	0.000000	0.84330	D	0.046853	0.999999	0.58761	D	3.085	0.87354	M	-0.24	0.66834	T	-5.08	0.82896	D	0.629	0.64308	-0.1699	0.78431	T	0.402	0.75324	T	10	0.014742434	0.00310	T	0.083982	0.74230	D	0.303	0.62400	0.353	0.35246	0.813371712031	0.81161	0.6906328432066096	0.69003	0.597724722222	0.54960	0.63251388073	0.57502	T	0.557095	0.85108	D	-0.28124	0.10536	T	-0.174147	0.57063	T	0.213206483886988	0.21120	T	0.923208	0.72041	D	0.278448	0.50898	0.26033202	0.51795	0.278448	0.50898	0.26033202	0.51794	-8.088	0.61669	D	.	.	0.244	0.47816	B	.	.	3.786315	0.54474	23.5	0.99818030561607474	0.90150	0.94990	0.63039	D	AEFBI	0.420275	0.48717	N	0.54600680209023	0.69838	5.414416	0.492423768725063	0.67486	5.090594	0.93584618479406	0.27230	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.72	5.72	0.89380	2.720000	0.46921	6.025000	0.52847	0.549000	0.26987	0.984000	0.35821	1.000000	0.68203	0.221000	0.22489	0.1413:0.7221:0.1366:0.0	11.183	0.47869	391	0.83213	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1249.33	40	chr4	39277025	.	C	T	1249.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.344;DP=717;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.2;ReadPosRankSum=0.222;SOR=0.616	GT:AD:DP:GQ:PL	0/1:41,47:88:99:1263,0,1104	18	0	1	0
chr4	56601061	56601061	A	C	exonic	THEGL	.	nonsynonymous SNV	THEGL:NM_001256475:exon8:c.A1235C:p.H412P	.	422	1042	53	5	0	63	0.0293433	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00399361	0.0170	0	0.0109	0	.	0.0181	0	0.0176	0.0020569	318	154602	rs189562677	0.0058	0.0055	0.0052	0.0065	0.0194	0.0057	0.0057	0.0186	0.0183	0.0009	0.0022	0.0198	2.799e-05	0.0008	0.0183	0.0050	0.0073	0.0194	0.0040	0.0040	0.0040	0.0039	0.0164	0.0037	0.0036	0.0135	0.0124	0.0006	0.0011	0.0014	0.0196	0	0.0012	0.0136	0.0056	0.0057	0.0164	0.036	0.43393	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	2.015	0.55033	M	1.54	0.30133	T	-4.5	0.78135	D	0.172	0.18376	.	.	.	.	.	.	.	0.005950302	0.00133	T	.	.	.	.	.	.	.	.	.	0.4504680127375459	0.44964	.	.	0.425163269043	0.28547	T	0.043975	0.26670	T	-0.446262	0.01188	T	-0.398205	0.33593	T	.	.	.	0.419858	0.11135	T	0.41277054	0.61608	0.3506432	0.60670	0.41277054	0.61608	0.3506432	0.60669	-6.935	0.53558	T	.	.	0.371	0.57902	A	.	.	2.684197	0.35026	19.79	0.84540003119271534	0.15351	0.51585	0.28930	D	AEFBI	0.193064	0.32019	N	.	.	.	.	.	.	0.0167546444620353	0.12869	0.487112	0.14033	0	0.573888	0.26702	0	0.59043	0.30614	0	0.530356	0.10902	0	.	.	5.14	5.14	0.70008	2.789000	0.47504	4.571000	0.43881	0.750000	0.87069	0.767000	0.29322	0.995000	0.32472	0.005000	0.06747	1.0:0.0:0.0:0.0	11.264	0.48329	864	0.32732	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	5855.79	34	chr4	56601061	.	A	C	5855.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.229;DP=1051;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=12.17;ReadPosRankSum=-0.616;SOR=0.665	GT:AD:DP:GQ:PL	0/1:78,65:143:99:1622,0,2073	16	0	3	0
chr4	78266922	78266922	T	G	exonic	FRAS1	.	nonsynonymous SNV	FRAS1:NM_001166133:exon8:c.T776G:p.L259R,FRAS1:NM_025074:exon8:c.T776G:p.L259R	Fraser syndrome, Autosomal recessive	0	1477	42	3	0	48	0.0159893	.	.	.	196072	Usher_syndrome_type_2C|not_provided|Fraser_syndrome_1|not_specified	MONDO:MONDO:0011558,MedGen:C2931213,OMIM:605472,Orphanet:231178,Orphanet:886|MedGen:C3661900|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000,Orphanet:2052|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.508	.	0.0033	0.00359425	0.0086	0.0010	0.0045	0.0004	0.0169	0.0072	0.0152	0.0197	0.0047671	737	154602	rs148509395	0.0041	0.0042	0.0038	0.0045	0.0133	0.0040	0.0040	0.0126	0.0124	0.0005	0.0017	0.0074	0.0001	0.0095	0.0078	0.0034	0.0044	0.0133	0.0037	0.0037	0.0033	0.0041	0.0087	0.0035	0.0034	0.0066	0.0059	0.0006	0	0.0017	0.0069	0	0.0119	0.0170	0.0045	0.0038	0.0087	0.002	0.72154	D	0.02	0.58613	D	.	.	.	.	.	.	0.012317	0.29218	N	0.279554	0.959519	0.26183	N	2.87	0.83286	M	-0.31	0.68030	T	-3.56	0.68880	D	0.324	0.36464	-0.8477	0.52127	T	0.177	0.52131	T	10	0.0076170564	0.00173	T	.	.	.	0.508	0.78848	.	.	0.69033799254	0.68767	0.8754246470614692	0.87509	.	.	0.402483850718	0.25414	T	.	.	.	-0.0193185	0.48951	T	0.210505	0.83692	D	0.0470920803135429	0.04981	T	0.734827	0.35112	T	.	.	.	.	.	.	.	.	-12.312	0.86338	D	.	.	0.087	0.11317	B	.;.	.;.	3.123829	0.42181	21.5	0.99574399264936109	0.72621	0.51684	0.28953	D	AEFBCI	0.285734	0.39829	N	0.0179515778549127	0.42672	2.575503	-0.0664457684772517	0.36786	2.145366	0.744835021696735	0.23269	0.650006	0.45971	0	0.573888	0.26702	0	0.606735	0.37207	0	0.620846	0.47308	0	.	.	5.34	4.08	0.46880	3.766000	0.54991	4.900000	0.45850	0.665000	0.62972	0.272000	0.25065	0.911000	0.28135	0.024000	0.12247	0.1379:0.0:0.0:0.8621	11.149	0.47672	912	0.21483	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008056	0.005051	0.005435	0.000000	0.000000	0.034483	0.009146	0.018939	0.02632	1394.33	105	chr4	78266922	.	T	G	1394.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.365;DP=1079;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.5;ReadPosRankSum=-0.203;SOR=0.718	GT:AD:DP:GQ:PL	0/1:101,63:164:99:1408,0,2535	18	0	1	0
chr4	87615731	87615731	T	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	147	40	1	11	27	50	0.223301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7632	118.42	38	chr4	87615731	.	T	*	118.42	.	AC=29;AF=0.763;AN=38;DP=779;ExcessHet=4.0268;FS=1.141;InbreedingCoeff=-0.2667;MLEAC=29;MLEAF=0.763;MQ=58.33;QD=0.23;SOR=0.84	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,10:10:54:1|1:87615730_ATAG_A:761,54,0:87615730	1	11	7	0
chr4	87615740	87615740	C	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	108.23	38	chr4	87615740	.	C	*	108.23	.	AC=19;AF=0.5;AN=38;DP=820;ExcessHet=0.0541;FS=13.908;InbreedingCoeff=0.406;MLEAC=19;MLEAF=0.5;MQ=58.19;QD=0.43;SOR=1.303	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,10:10:55:1|1:87615730_ATAG_A:764,55,0:87615730	7	7	5	0
chr4	87615746	87615746	C	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	138.23	38	chr4	87615746	.	C	*	138.23	.	AC=19;AF=0.5;AN=38;DP=817;ExcessHet=0.0541;FS=12.871;InbreedingCoeff=0.406;MLEAC=19;MLEAF=0.5;MQ=57.5;QD=0.56;SOR=1.278	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,10:10:55:1|1:87615730_ATAG_A:764,55,0:87615730	7	7	5	0
chr4	87615749	87615767	CAGCAGTGACAGCAGCGAT	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	1015	436	27	4	40	75	0.0385888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	1003.04	32	chr4	87615749	.	CAGCAGTGACAGCAGCGAT	*	1003.04	.	AC=13;AF=0.5;AN=26;BaseQRankSum=2.3;DP=810;ExcessHet=2.7716;FS=0.432;InbreedingCoeff=-0.3684;MLEAC=16;MLEAF=0.615;MQ=58.37;MQRankSum=-2.137;QD=3.37;ReadPosRankSum=0.68;SOR=0.74	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,10:10:47:.:.:641,47,0:.	2	2	9	6
chr4	99318097	99318097	C	G	exonic	ADH1B	.	nonsynonymous SNV	ADH1B:NM_000668:exon3:c.G208C:p.A70P,ADH1B:NM_001286650:exon4:c.G88C:p.A30P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	0.00535122917252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.83351	D	.	.	.	.	.	.	0.274284	0.15067	N	0.646799	0.986388	0.24621	N	.	.	.	3.67	0.04188	T	-2.9	0.60827	D	0.403	0.44379	-1.0901	0.05515	T	0.040	0.17404	T	10	0.78878886	0.78477	D	0.005351	0.13710	T	0.203	0.48915	0.793	0.91438	0.298403945805	0.29456	0.868512317625715	0.86816	0.674296566844	0.59635	0.391434371471	0.23871	T	0.010873	0.09774	T	-0.116403	0.33711	T	-0.404982	0.32804	T	0.962773263454437	0.66465	D	0.949205	0.80472	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.888	0.85099	P	.;.;.;.	.;.;.;.	3.508601	0.49119	22.7	0.99207734913482859	0.55472	0.90290	0.51349	D	AEFDGBI	0.896173	0.83696	D	-0.172128327332495	0.34298	1.956007	-0.333588702841019	0.27021	1.496536	0.828569575732975	0.24652	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.17	2.36	0.28258	3.367000	0.52075	3.858000	0.40123	-0.233000	0.07663	0.778000	0.29449	0.208000	0.23622	0.125000	0.19370	0.168:0.7474:0.0:0.0847	8.164	0.30373	624	0.65661	Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site|Polyketide synthase, enoylreductase domain;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site|Polyketide synthase, enoylreductase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4444	4800.47	119	chr4	99318097	.	C	G	4800.47	.	AC=16;AF=0.444;AN=36;BaseQRankSum=-2.037;DP=2929;ExcessHet=25.4433;FS=292.214;InbreedingCoeff=-0.7674;MLEAC=17;MLEAF=0.472;MQ=59.96;MQRankSum=0;QD=2.15;ReadPosRankSum=0.505;SOR=13.638	GT:AD:DP:GQ:PL	0/1:99,50:173:99:191,0,1844	2	0	16	1
chr4	99347057	99347057	C	G	exonic	ADH1C	.	nonsynonymous SNV	ADH1C:NM_000669:exon3:c.G208C:p.A70P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.79402	D	0.987	0.61912	D	0.964	0.71005	D	.	.	.	.	.	.	.	1.585	0.39878	L	.	.	.	.	.	.	0.553	0.57860	.	.	.	.	.	.	.	0.45086047	0.58689	T	.	.	.	.	.	.	.	0.456647468687	0.45291	0.8867280223172282	0.88641	.	.	0.398606598377	0.24874	T	0.025436	0.35537	T	0.163225	0.70500	D	-0.00331565	0.70121	D	.	.	.	0.937806	0.78939	D	0.76270866	0.81614	0.69800264	0.82213	0.76270866	0.81615	0.69800264	0.82214	-9.592	0.71430	D	.	.	0.950	0.86857	P	.;.;.	.;.;.	3.454651	0.48119	22.6	0.99707451619795451	0.81074	0.77981	0.38408	D	AEFI	0.799589	0.72581	D	.	.	.	.	.	.	2.3174768173114E-5	0.03498	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.057018	0.00518	0	.	.	3.71	2.86	0.32427	2.765000	0.47304	4.616000	0.44056	0.549000	0.26987	0.378000	0.25989	0.437000	0.24884	0.144000	0.20092	0.0:0.9091:0.0:0.0909	11.418	0.49207	625	0.65529	Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site|Polyketide synthase, enoylreductase domain;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	4767.86	165	chr4	99347057	.	C	G	4767.86	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-1.37;DP=2499;ExcessHet=31.086;FS=313.504;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=59.98;MQRankSum=0;QD=2.44;ReadPosRankSum=-0.377;SOR=11.97	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:82,30:132:56:.:.:56,0,1332:.	2	0	17	0
chr4	99591235	99591235	G	A	exonic	MTTP	.	nonsynonymous SNV	MTTP:NM_001300785:exon5:c.G583A:p.V195I,MTTP:NM_000253:exon6:c.G502A:p.V168I	Abetalipoproteinemia, Autosomal recessive	0	1475	46	1	0	48	0.0160107	0.7313	0.39	YES	294778	not_specified|not_provided|Abetalipoproteinaemia	MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0008181,MONDO:MONDO:0008692,MedGen:C0000744,OMIM:200100,Orphanet:14	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.123	.	0.0078	0.00778754	0.0102	0.0020	0.0086	0.0118	0.0045	0.0117	0.0077	0.0118	0.0099093	1532	154602	rs61750974	0.0097	0.0097	0.0095	0.0099	0.0176	0.0096	0.0095	0.0148	0.0138	0.0017	0.0083	0.0304	0.0103	0.0061	0.0176	0.0092	0.0120	0.0133	0.0079	0.0079	0.0080	0.0079	0.0129	0.0075	0.0074	0.0105	0.0095	0.0021	0	0.0084	0.0337	0.0129	0.0035	0.0170	0.0099	0.0123	0.0124	0.0	0.91255	D	0.0	0.92824	D	0.967	0.59353	D	0.761	0.59331	P	0.000254	0.46924	D	0.221763	0.950724	0.37708	D	2.75	0.80375	M	1.96	0.41750	T	-0.44	0.14588	N	0.114	0.11054	-0.7853	0.56002	T	0.114	0.40536	T	9	0.009104729	0.00291	T	.	.	.	0.123	0.34020	.	.	.	.	0.1991287038952996	0.19829	0.239867016436	0.26532	0.383642137051	0.22772	T	0.022931	0.43860	T	-0.542262	0.00325	T	-0.538724	0.18423	T	0.064671118824304	0.07882	T	0.652235	0.30204	T	0.045035552	0.07302	0.063721694	0.12664	0.037605893	0.04852	0.063721694	0.12664	-4.065	0.24772	T	0.2709707601705125	0.36454	0.084	0.09772	B	.;.;.;.	.;.;.;.	3.787366	0.54495	23.5	0.9976857270100743	0.85666	0.80525	0.40140	D	AEFI	0.722971	0.67273	D	0.448519150340318	0.64118	4.659456	0.44791500378416	0.64582	4.716802	0.387949059409406	0.20020	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.9	5.07	0.68106	4.279000	0.58747	3.962000	0.40756	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0749:0.0:0.9251:0.0	13.015	0.58159	918	0.19598	.;Lipid transport protein, N-terminal|Lipid transport protein, N-terminal|Lipid transport protein, N-terminal;Lipid transport protein, N-terminal|Lipid transport protein, N-terminal|Lipid transport protein, N-terminal;Lipid transport protein, N-terminal|Lipid transport protein, N-terminal|Lipid transport protein, N-terminal	.	.	.	.	.	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	0.014099	0.005051	0.017663	0.011696	0.000000	0.008621	0.018293	0.015152	0.1053	3098.41	35	chr4	99591235	.	G	A	3098.41	.	AC=4;AF=0.105;AN=38;BaseQRankSum=0.484;DP=728;ExcessHet=0.0101;FS=0.585;InbreedingCoeff=0.4412;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=17.12;ReadPosRankSum=-0.358;SOR=0.784	GT:AD:DP:GQ:PL	1/1:0,64:64:99:1965,192,0	16	1	2	0
chr4	109433883	109433883	C	A	exonic	SEC24B	.	nonsynonymous SNV	SEC24B:NM_001042734:exon1:c.C14A:p.A5D,SEC24B:NM_001300813:exon1:c.C14A:p.A5D,SEC24B:NM_001318085:exon1:c.C14A:p.A5D,SEC24B:NM_001318086:exon1:c.C14A:p.A5D,SEC24B:NM_006323:exon1:c.C14A:p.A5D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.327	0.922422717922	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	7.525e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.121	0.38160	T	0.632	0.40232	P	0.057	0.26280	B	.	.	.	.	0.906617	0.29771	N	0.895	0.22405	L	-2.07	0.85943	D	-0.52	0.16187	N	0.261	0.29544	-0.5074	0.68381	T	0.294	0.66526	T	9	0.23167348	0.40145	T	0.922423	0.99430	D	0.327	0.64926	0.088	0.00943	0.420544483464	0.41669	0.20870702297694346	0.20786	0.216239903924	0.24148	0.877464771271	0.93618	D	0.105649	0.41630	T	0.139313	0.68260	D	-0.0376627	0.67859	D	0.564012201761906	0.35007	D	0.451655	0.25786	T	0.38314518	0.59543	0.53580666	0.73176	0.38314518	0.59543	0.53580666	0.73177	-5.759	0.45110	T	.	.	0.241	0.56619	B	.;.;.	.;.;.	3.490674	0.48788	22.7	0.98754281507704555	0.45709	0.22565	0.21789	N	ALL	0.084468	0.17118	N	-0.242995421996812	0.31383	1.759194	-0.170269271334522	0.32636	1.858753	0.999999998012101	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.519653	0.09787	0	0.249971	0.05119	0	.	.	3.07	2.18	0.26813	0.921000	0.28338	3.087000	0.36263	0.272000	0.18543	0.852000	0.30477	1.000000	0.68203	0.968000	0.53726	0.0:0.8341:0.0:0.1659	5.404	0.15608	899	0.25060	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.03333	30.07	0	chr4	109433883	.	C	A	30.07	.	AC=1;AF=0.033;AN=30;BaseQRankSum=-0.967;DP=43;ExcessHet=0;FS=0;InbreedingCoeff=0.0146;MLEAC=1;MLEAF=0.033;MQ=60;MQRankSum=0;QD=10.02;ReadPosRankSum=0.967;SOR=0.223	GT:AD:DP:GQ:PL	0/1:1,2:3:33:40,0,33	14	0	1	4
chr4	119271709	119271709	C	T	exonic	USP53	.	nonsynonymous SNV	USP53:NM_001371396:exon13:c.C1696T:p.P566S,USP53:NM_001371397:exon14:c.C1849T:p.P617S,USP53:NM_001371399:exon14:c.C1849T:p.P617S,USP53:NM_001371398:exon15:c.C1849T:p.P617S,USP53:NM_019050:exon15:c.C1849T:p.P617S,USP53:NM_001371395:exon16:c.C1849T:p.P617S	.	436	1068	18	0	0	18	0.00835655	.	.	.	720732	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.032	.	0.0035	0.00159744	0.0040	0.0008	0.0067	0	0.0006	0.0050	0.0123	0.0029	0.0038421	594	154602	rs147140509	0.0045	0.0045	0.0045	0.0045	0.0113	0.0044	0.0044	0.0091	0.0083	0.0010	0.0038	0.0056	0	0.0014	0.0113	0.0049	0.0050	0.0034	0.0029	0.0029	0.0032	0.0026	0.0044	0.0027	0.0026	0.0040	0.0039	0.0009	0	0.0022	0.0058	0	0.0013	0.0411	0.0044	0.0038	0.0031	0.41	0.10148	T	0.959	0.02555	T	0.003	0.11197	B	0.003	0.08700	B	0.395286	0.13199	N	0.719952	1	0.08975	N	1.12	0.28775	L	2.46	0.14907	T	-1.24	0.31375	N	0.055	0.02658	-0.9613	0.38936	T	0.016	0.06425	T	10	0.0031200051	0.00052	T	.	.	.	0.032	0.07718	.	.	0.307332253619	0.30352	0.07958141728897741	0.07893	0.138693011679	0.15641	0.240512296557	0.02837	T	0.00409	0.03502	T	-0.68941	0.00042	T	-0.761975	0.03042	T	0.000688057911694963	0.00006	T	0.584642	0.21276	T	0.01913809	0.00439	0.023445774	0.00358	0.01913809	0.00439	0.023445774	0.00357	-2.689	0.07211	T	.	.	0.077	0.06433	B	.;.	.;.	-0.276737	0.02721	0.359	0.57365281913069399	0.05753	0.10011	0.15632	N	AEFBI	0.078094	0.15749	N	-1.25241476748835	0.04267	0.1922847	-1.2491995289293	0.05143	0.2443526	0.944076082587791	0.27599	0.730579	0.87903	0	0.588015	0.36545	0	0.65145	0.50148	0	0.648885	0.59868	0	.	.	5.58	-1.71	0.07696	0.011000	0.13162	0.378000	0.17749	0.599000	0.40250	0.000000	0.06391	0.001000	0.17328	0.551000	0.30197	0.108:0.4076:0.2139:0.2705	2.575	0.04513	546	0.72524	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.009063	0.005051	0.006793	0.014620	0.000000	0.025862	0.012195	0.007576	0.07895	6429.79	33	chr4	119271709	.	C	T	6429.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.803;DP=1112;ExcessHet=0.3672;FS=0.517;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=13.37;ReadPosRankSum=-0.183;SOR=0.649	GT:AD:DP:GQ:PL	0/1:72,85:157:99:2292,0,2003	16	0	3	0
chr4	137530243	137530243	G	A	exonic	PCDH18	.	nonsynonymous SNV	PCDH18:NM_001300828:exon1:c.C1846T:p.L616F,PCDH18:NM_019035:exon1:c.C1846T:p.L616F	.	422	1065	33	2	0	37	0.0170743	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	.	0.0053	0.00499201	0.0046	0.0080	0.0029	0	0.0014	0.0039	0.0066	0.0100	0.004379	677	154602	rs74512322	0.0047	0.0047	0.0045	0.0050	0.0205	0.0046	0.0046	0.0175	0.0163	0.0085	0.0028	0.0034	0	0.0010	0.0205	0.0045	0.0055	0.0104	0.0045	0.0045	0.0048	0.0043	0.0104	0.0042	0.0041	0.0081	0.0073	0.0064	0.0033	0.0022	0.0017	0	0.0010	0.0306	0.0043	0.0099	0.0104	0.051	0.39334	T	0.028	0.55341	D	0.003	0.23653	B	0.019	0.36391	B	0.026242	0.25951	N	0.184300	0.997932	0.81001	D	1.995	0.54099	M	0.61	0.53516	T	-3.5	0.68178	D	0.285	0.41162	-0.7214	0.59394	T	0.170	0.51101	T	10	0.01097846	0.00242	T	.	.	.	0.159	0.41286	.	.	0.635465298753	0.63247	0.6266247032032225	0.62595	0.128549610524	0.14494	0.497563928366	0.38489	T	0.284	0.65687	T	-0.474932	0.00792	T	-0.447021	0.28026	T	0.0418836800110794	0.04033	T	0.876612	0.58915	D	0.29476544	0.52432	0.28233165	0.54221	0.29476544	0.52432	0.28233165	0.54220	-6.488	0.50194	T	.	.	0.169	0.48156	B	.;.;.	.;.;.	3.206075	0.43621	21.8	0.99352932025997598	0.60656	0.87495	0.47053	D	AEFBHCI	.	.	.	0.0827075386403198	0.45657	2.818593	0.187786125238016	0.49178	3.124076	0.999999994461327	0.74766	0.627647	0.40530	0	0.588015	0.36545	0	0.672317	0.60874	0	0.567892	0.33627	0	.	.	5.8	4.95	0.64894	1.977000	0.40211	8.427000	0.77162	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0736:0.0:0.9264:0.0	13.982	0.63823	986	0.02773	Cadherin-like|Cadherin-like;.;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013092	0.020202	0.010870	0.014620	0.050000	0.025862	0.012195	0.003788	0.07895	10495.8	33	chr4	137530243	.	G	A	10495.8	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.184;DP=1355;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=13.6;ReadPosRankSum=0.135;SOR=0.701	GT:AD:DP:GQ:PL	0/1:127,139:266:99:3796,0,3305	16	0	3	0
chr4	140563138	140563138	C	G	exonic	UCP1	.	nonsynonymous SNV	UCP1:NM_021833:exon4:c.G600C:p.E200D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.0146202776725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	2.052e-06	1.362e-06	0	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.631	0.05137	T	0.791	0.04181	T	0.004	0.12183	B	0.007	0.12992	B	0.003241	0.35241	N	0.324932	0.999999	0.08975	N	0.56	0.15190	N	-1.27	0.79277	T	-0.52	0.16187	N	0.133	0.12913	-1.0108	0.26666	T	0.158	0.49027	T	10	0.05424103	0.05744	T	0.01462	0.34856	T	0.090	0.26093	0.368	0.37687	0.494433119893	0.49078	0.5936266468194845	0.59292	0.149167586053	0.16817	0.271067947149	0.06281	T	0.121596	0.44467	T	-0.194226	0.21639	T	-0.516769	0.20622	T	0.0746878460049629	0.09294	T	0.60264	0.22576	T	0.06687306	0.14429	0.04191142	0.04870	0.06687306	0.14429	0.04191142	0.04870	-4.395	0.29489	T	.	.	0.106	0.19720	B	.	.	0.547365	0.09157	5.942	0.36715842428115708	0.02377	0.06566	0.12580	N	AEFBI	0.061408	0.11738	N	-1.30471918549485	0.03621	0.1620578	-1.29537821251235	0.04493	0.2120394	0.729658486604041	0.23029	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.22	-1.38	0.08554	-1.260000	0.02967	-2.964000	0.03187	-0.218000	0.08083	0.004000	0.16614	0.000000	0.08366	0.312000	0.24784	0.2442:0.2523:0.3582:0.1453	2.216	0.03717	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4737	9144.3	96	chr4	140563138	.	C	G	9144.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-1.858;DP=1991;ExcessHet=38.2876;FS=239.142;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=5.23;ReadPosRankSum=-0.093;SOR=13.038	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:64,24:95:99:.:.:237,0,1111:.	1	0	18	0
chr4	153627657	153627657	G	C	exonic	TMEM131L	.	nonsynonymous SNV	TMEM131L:NM_001131007:exon31:c.G4177C:p.A1393P,TMEM131L:NM_015196:exon31:c.G4174C:p.A1392P	.	418	1060	41	3	0	47	0.021689	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	.	0.0101	0.00898562	0.0070	0.0139	0.0059	0	0.0003	0.0068	0.0110	0.0107	0.0070051	1083	154602	rs35543386	0.0070	0.0070	0.0068	0.0072	0.0236	0.0069	0.0068	0.0204	0.0192	0.0171	0.0076	0.0002	7.557e-05	0.0009	0.0236	0.0068	0.0079	0.0126	0.0098	0.0098	0.0095	0.0100	0.0174	0.0094	0.0092	0.0164	0.0160	0.0174	0	0.0131	0	0.0002	0.0002	0.0272	0.0070	0.0123	0.0100	0.111	0.29029	T	0.254	0.23433	T	0.918	0.53992	P	0.432	0.51908	B	0.079920	0.20955	N	0.510995	0.904796	0.27629	N	1.905	0.50856	L	2.39	0.19588	T	-1.58	0.38151	N	0.18	0.30574	-1.1150	0.02673	T	0.033	0.14073	T	10	0.0036915839	0.00068	T	.	.	.	0.056	0.15993	.	.	0.128874641272	0.12493	0.3607456332118572	0.35988	0.448003017577	0.44648	0.317208051682	0.12997	T	0.005717	0.18437	T	-0.587468	0.00174	T	-0.602353	0.12615	T	0.0279178617237596	0.01677	T	0.877812	0.59215	D	0.2115418	0.43482	0.22197399	0.47026	0.2115418	0.43481	0.22197399	0.47025	-3.541	0.17010	T	.	.	0.104	0.23675	B	.;.;.	.;.;.	1.853712	0.23552	16.06	0.98675804788432819	0.44539	0.88046	0.47806	D	AEFBCI	0.333054	0.43226	N	0.107246852498997	0.46800	2.914933	0.0520436456802148	0.42170	2.546096	0.999547907962721	0.40300	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.63	4.79	0.60909	3.431000	0.52582	1.482000	0.26828	0.676000	0.76740	0.988000	0.36536	0.912000	0.28152	0.019000	0.11356	0.0764:0.0:0.9236:0.0	12.522	0.55413	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	0.019637	0.015152	0.019022	0.029240	0.000000	0.008621	0.027439	0.015152	0.02632	2252.33	37	chr4	153627657	.	G	C	2252.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.48;DP=810;ExcessHet=0;FS=0.529;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.67;ReadPosRankSum=-1.087;SOR=0.768	GT:AD:DP:GQ:PL	0/1:100,93:193:99:2266,0,2228	18	0	1	0
chr4	166100813	166100813	G	T	exonic	TLL1	.	nonsynonymous SNV	TLL1:NM_012464:exon21:c.G2979T:p.K993N	Atrial septal defect 6, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.236	0.0364909344963	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1389296302	1.369e-06	1.368e-06	0	2.752e-06	2.319e-05	2.3e-07	9e-08	3.85e-06	1.44e-06	0	0	0	0	0	0	0	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.20683	T	0.267	0.23638	T	1.0	0.90584	D	0.998	0.92359	D	0.000000	0.84330	U	0.000000	1	0.81001	D	1.955	0.52871	M	1.39	0.33842	T	-1.97	0.45587	N	0.578	0.59986	-0.9451	0.41797	T	0.166	0.50437	T	10	0.45508403	0.58939	T	0.036491	0.57022	D	0.236	0.53931	0.606	0.73825	0.610613400217	0.60748	0.41463259995505686	0.41379	0.936948820389	0.72059	0.641134440899	0.58725	T	0.103572	0.41234	T	-0.113325	0.34219	T	-0.40056	0.33319	T	0.933760166168213	0.60073	D	0.971803	0.89778	D	0.3389265	0.56194	0.23194776	0.48341	0.3389265	0.56194	0.23194776	0.48340	-11.637	0.83038	D	.	.	0.980	0.91221	P	.;.	.;.	4.265301	0.64858	24.8	0.99819505494450234	0.90238	0.98443	0.82831	D	AEFI	0.809264	0.73282	D	0.485218982784912	0.66225	4.922906	0.460366970363978	0.65386	4.817134	0.00781025453097893	0.11547	0.638212	0.43195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.668105	0.65232	0	.	.	5.42	3.7	0.41607	5.888000	0.69501	4.567000	0.43865	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1408:0.0:0.8592:0.0	11.970	0.52344	872	0.31118	CUB domain|CUB domain|CUB domain|CUB domain;CUB domain|CUB domain|CUB domain|CUB domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1397.33	34	chr4	166100813	.	G	T	1397.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.525;DP=777;ExcessHet=0;FS=2.088;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.25;ReadPosRankSum=-1.415;SOR=0.919	GT:AD:DP:GQ:PL	0/1:89,62:151:99:1411,0,2291	18	0	1	0
chr4	176711629	176711629	G	C	exonic	VEGFC	.	nonsynonymous SNV	VEGFC:NM_005429:exon4:c.C574G:p.L192V	Lymphedema, hereditary, ID, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.389	0.00457388535514	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.36233	T	0.018	0.17786	B	0.016	0.17743	B	0.000002	0.62929	D	0.060984	0.999978	0.53665	D	1.445	0.36358	L	.	.	.	.	.	.	0.211	0.23506	-0.9162	0.46063	T	0.201	0.55723	T	9	0.21782258	0.38406	T	0.004574	0.11283	T	.	.	0.338	0.32816	0.258283824007	0.25425	0.20722753188937795	0.20638	.	.	0.476231843233	0.35538	T	0.511562	0.82742	D	-0.225602	0.17235	T	-0.561838	0.16204	T	0.975354909896851	0.70898	D	0.818018	0.47523	T	0.68111783	0.77030	0.5560567	0.74322	0.68111783	0.77031	0.5560567	0.74323	-3.092	0.11205	T	.	.	0.149	0.32898	B	.	.	2.846774	0.37571	20.5	0.99481528693655874	0.66904	0.93293	0.57830	D	AEFDGBIJ	0.738481	0.68334	D	0.0495151208025927	0.44120	2.691901	0.265583808111138	0.53542	3.522512	0.999999999071338	0.74766	0.50712	0.20391	0	0.573888	0.26702	0	0.658983	0.55881	0	0.635259	0.50027	0	.	.	5.98	5.98	0.97147	4.780000	0.62075	7.388000	0.58495	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	20.437	0.99095	901	0.24189	PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2632	1776.23	84	chr4	176711629	.	G	C	1776.23	.	AC=10;AF=0.263;AN=38;BaseQRankSum=-5.364;DP=1305;ExcessHet=6.9875;FS=98.024;InbreedingCoeff=-0.3577;MLEAC=10;MLEAF=0.263;MQ=60;MQRankSum=0;QD=2.1;ReadPosRankSum=0.755;SOR=10.318	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:74,13:87:99:0|1:176711629_G_C:110,0,2789:176711629	9	0	10	0
chr4	176711631	176711631	G	C	exonic	VEGFC	.	nonsynonymous SNV	VEGFC:NM_005429:exon4:c.C572G:p.P191R	Lymphedema, hereditary, ID, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	1678376	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.573	0.0164080950575	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0079	0.0007	0.0006	0.0007	0.0006	0.0006	0.0007	0.0007	0.0004	0.0001	0.0006	0.0005	0.0003	0.0004	0.0007	0.0006	0.0001	0	1.318e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.004	0.74150	D	1.0	0.90584	D	0.988	0.77976	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.78	0.81115	M	.	.	.	.	.	.	0.909	0.91047	-0.3248	0.74287	T	0.394	0.74735	T	9	0.8736812	0.86647	D	0.016408	0.37653	T	.	.	0.546	0.66015	0.51627217869	0.51271	0.670927250296511	0.67030	.	.	0.735086381435	0.72250	T	0.838317	0.96206	D	0.453469	0.92634	D	0.414	0.92543	D	0.994541704654694	0.85897	D	0.888611	0.61875	D	0.8869157	0.90244	0.57547873	0.75406	0.8869157	0.90246	0.57547873	0.75407	-14.113	0.93418	D	.	.	0.912	0.83607	P	.	.	5.440469	0.90928	32	0.99696376373392925	0.80316	0.99228	0.93120	D	AEFDGBIJ	0.929678	0.91581	D	0.858986860426177	0.89613	10.04438	0.885812039272356	0.94923	13.15767	1.0	0.98316	0.50712	0.20391	0	0.573888	0.26702	0	0.658983	0.55881	0	0.635259	0.50027	0	.	.	5.98	5.98	0.97147	9.591000	0.97403	11.818000	0.97148	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	20.437	0.99095	901	0.24189	PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.3889	2940.87	84	chr4	176711631	.	G	C	2940.87	.	AC=14;AF=0.389;AN=36;BaseQRankSum=-1.406;DP=1611;ExcessHet=17.0548;FS=119.901;InbreedingCoeff=-0.6179;MLEAC=14;MLEAF=0.389;MQ=60;MQRankSum=0;QD=2.47;ReadPosRankSum=1.04;SOR=11.46	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:62,13:83:99:.:.:115,0,2709:.	4	0	14	1
chr4	185397260	185397260	T	G	exonic	ANKRD37	.	nonsynonymous SNV	ANKRD37:NM_181726:exon2:c.T138G:p.F46L	.	429	1066	27	0	0	27	0.0125058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	.	0.0035	0.00459265	0.0041	0.0045	0.0016	0.0002	0.0026	0.0043	0.0045	0.0072	0.0037257	576	154602	rs116240990	0.0033	0.0033	0.0031	0.0035	0.0106	0.0032	0.0032	0.0085	0.0077	0.0051	0.0015	0.0098	0.0002	0.0031	0.0106	0.0028	0.0042	0.0075	0.0038	0.0039	0.0037	0.0040	0.0068	0.0036	0.0035	0.0050	0.0044	0.0044	0.0154	0.0019	0.0107	0.0004	0.0032	0.0238	0.0036	0.0019	0.0068	1.0	0.00964	T	0.195	0.28032	T	0.003	0.11197	B	0.007	0.12992	B	0.003193	0.35300	N	0.235291	.	.	.	-0.715	0.01801	N	-0.01	0.62762	T	-1.06	0.27669	N	0.253	0.28616	-1.0887	0.05752	T	0.047	0.20156	T	9	0.00392583	0.00075	T	.	.	.	0.064	0.18567	0.605	0.73706	0.212008924253	0.20833	0.3201222245409584	0.31925	0.151054330017	0.17050	0.434957683086	0.29888	T	0.003319	0.02728	T	-0.530834	0.00380	T	-0.530718	0.19215	T	0.00248984454150134	0.00026	T	0.547645	0.18800	T	0.052632872	0.09844	0.059691746	0.11245	0.052632872	0.09844	0.059691746	0.11244	-5.538	0.42222	T	.	.	0.459	0.62665	A	.	.	0.454883	0.08249	4.990	0.96381045368418128	0.29617	0.20558	0.21085	N	ALL	0.087993	0.17840	N	-1.31659422837559	0.03484	0.1557496	-1.27705834718057	0.04742	0.2243979	0.999999999998537	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.504199	0.09095	0	0.372554	0.06265	0	.	.	4.94	-4.25	0.03508	-1.155000	0.03273	-1.974000	0.04407	-0.819000	0.02980	0.121000	0.23193	0.000000	0.08366	0.623000	0.31974	0.0:0.2871:0.3629:0.35	6.235	0.19967	930	0.16408	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007056	0.005051	0.008152	0.017544	0.000000	0.000000	0.000000	0.003788	0.02632	1052.33	37	chr4	185397260	.	T	G	1052.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.19;DP=729;ExcessHet=0;FS=1.574;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.93;ReadPosRankSum=2.43;SOR=0.883	GT:AD:DP:GQ:PL	0/1:62,44:106:99:1066,0,1559	18	0	1	0
chr4	185684817	185684817	C	T	exonic	SORBS2	.	nonsynonymous SNV	SORBS2:NM_001270771:exon5:c.G40A:p.A14T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.150	0.047528964644	.	0.000399361	0.0012	0	0	0	0	0	0	0.0034	0.0001876	29	154602	rs540568350	0.0002	0.0002	9.869e-05	0.0003	0.0033	0.0002	0.0002	0.0030	0.0029	0	8.402e-05	0	0	4.049e-05	0.0002	9.268e-06	8.607e-05	0.0033	0.0001	0.0001	8.997e-05	0.0001	0.0023	6.509e-05	5.321e-05	0.0013	0.0010	0	0	0	0	0	0.0002	0	4.41e-05	0	0.0023	0.002	0.72154	D	0.21	0.26714	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	1.3	0.35590	T	-0.61	0.74051	N	0.452	0.48963	-0.5722	0.65927	T	0.250	0.61946	T	8	0.014185846	0.00299	T	0.047529	0.62961	D	0.150	0.39571	0.246	0.18139	0.489036454283	0.48535	0.27168740313626494	0.27081	0.38454367566	0.39751	0.614200234413	0.54909	T	0.032968	0.35092	T	-0.231728	0.16421	T	-0.108688	0.62715	T	0.171206604171542	0.18661	T	0.889911	0.62289	D	.	.	.	.	.	.	.	.	-4.236	0.27270	T	.	.	0.142	0.65042	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.197330	0.63305	24.6	0.99927250224746411	0.99163	0.91295	0.53246	D	AEFBI	0.703635	0.65961	D	0.647955433650242	0.76237	6.449411	0.640360477469236	0.77893	6.768209	0.999999941729943	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	5.22	5.22	0.72285	3.394000	0.52294	3.998000	0.41048	0.599000	0.40250	0.995000	0.38783	0.999000	0.35428	0.975000	0.56047	0.0:1.0:0.0:0.0	19.127	0.93375	700	0.57880	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	956.33	33	chr4	185684817	.	C	T	956.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.32;DP=716;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.17;ReadPosRankSum=0.107;SOR=0.664	GT:AD:DP:GQ:PL	0/1:55,39:94:99:970,0,1343	18	0	1	0
chr5	10258229	10258229	G	A	exonic	CCT5	.	nonsynonymous SNV	CCT5:NM_001306154:exon4:c.G484A:p.G162S,CCT5:NM_001306155:exon4:c.G370A:p.G124S,CCT5:NM_001306153:exon5:c.G586A:p.G196S,CCT5:NM_001306156:exon5:c.G535A:p.G179S,CCT5:NM_012073:exon5:c.G649A:p.G217S	Neuropathy, hereditary sensory, with spastic paraplegia, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	923625	Hereditary_sensory_and_autonomic_neuropathy_with_spastic_paraplegia	MONDO:MONDO:0009748,MedGen:C1850395,OMIM:256840,Orphanet:139578	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.928	0.0604504809643	0.0002	0.000399361	0.0003	0	0	0	0.0002	4.496e-05	0	0.0020	0.0002523	39	154602	rs201804455	0.0001	0.0001	6.942e-05	0.0002	0.0016	0.0001	0.0001	0.0014	0.0013	0	0	0.0002	0	0.0001	0	2.338e-05	9.934e-05	0.0016	7.879e-05	7.874e-05	5.14e-05	0.0001	0.0017	4.494e-05	3.51e-05	0.0008	0.0006	0	0	0	0	0	0.0003	0.0034	0	0	0.0017	0.001	0.78490	D	0.003	0.76473	D	1.0	0.90584	D	0.98	0.80445	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.375	0.91388	M	-1.51	0.81399	D	-5.64	0.86914	D	0.787	0.80375	0.733	0.93583	D	0.764	0.91981	D	10	0.35645252	0.52384	T	0.06045	0.68006	D	0.928	0.98267	.	.	0.893530092694	0.89248	0.8243890694011388	0.82396	0.906306764254	0.70861	0.706900477409	0.68144	T	0.764588	0.93650	D	0.129022	0.67266	D	0.399324	0.92090	D	0.403197222780659	0.29063	T	0.886711	0.61533	D	0.89484787	0.90927	0.84683836	0.91292	0.89484787	0.90928	0.84683836	0.91293	-11.906	0.84389	D	0.6201566857737855	0.68845	0.595	0.68682	P	.;.;.;.;.	.;.;.;.;.	4.962232	0.82058	27.7	0.99879202384543442	0.95572	0.97493	0.75105	D	AEFDGBHCI	0.964678	0.98685	D	1.00917930470819	0.96020	14.21337	0.939397351013411	0.97072	15.54843	1.0	0.98316	0.706548	0.73137	0	0.697927	0.68747	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.59	5.59	0.84677	9.544000	0.97191	11.808000	0.96852	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.950000	0.49671	0.0:0.0:1.0:0.0	18.678	0.91497	824	0.40336	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1836.33	33	chr5	10258229	.	G	A	1836.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.09;DP=801;ExcessHet=0;FS=2.238;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.13;ReadPosRankSum=-0.394;SOR=0.956	GT:AD:DP:GQ:PL	0/1:64,66:130:99:1850,0,1555	18	0	1	0
chr5	14476917	14476917	A	G	exonic	TRIO	.	nonsynonymous SNV	TRIO:NM_007118:exon41:c.A6107G:p.K2036R	Mental retardation, autosomal dominant 44, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3193011	Inborn_genetic_diseases|TRIO-related_disorder	MeSH:D030342,MedGen:C0950123|.	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.169	0.0209529946029	0.0002	.	2.506e-05	0	0	0	0	3.041e-05	0	6.118e-05	1.94e-05	3	154602	rs143747764	3.421e-05	3.42e-05	2.723e-05	4.126e-05	0.0001	2.631e-05	2.375e-05	5.397e-05	4.043e-05	0	0	0	0	0	0	3.327e-05	6.624e-05	0.0001	1.971e-05	1.97e-05	2.569e-05	1.345e-05	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.144	0.25255	T	0.379	0.25670	T	0.006	0.13644	B	0.012	0.16012	B	0.000000	0.84330	D	0.000000	0.999819	0.49394	D	0.795	0.19620	N	-0.11	0.64445	T	-1.58	0.38151	N	0.323	0.43126	-0.8820	0.49601	T	0.176	0.52115	T	10	0.34143007	0.51193	T	0.020953	0.43640	T	0.169	0.43123	.	.	0.425367727682	0.42151	0.2568783080951126	0.25601	0.800755203525	0.66237	0.853492677212	0.90141	D	0.094839	0.39497	T	-0.122984	0.32636	T	-0.232906	0.51490	T	0.351448386907578	0.27076	T	0.914909	0.69682	D	0.26363796	0.49429	0.25357372	0.51007	0.26363796	0.49429	0.25357372	0.51006	-4.873	0.35430	T	.	.	0.093	0.13876	B	.;.;.;.	.;.;.;.	4.375166	0.67387	25.1	0.99885884336944764	0.96126	0.91870	0.54441	D	ALL	0.919851	0.89096	D	0.0606971200610804	0.44635	2.734031	0.245305829275071	0.52383	3.413449	0.99999999999993	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.616919	0.45865	0	.	.	5.39	5.39	0.77615	7.563000	0.81293	9.336000	0.80174	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.9239:0.0:0.0761:0.0	9.868	0.40326	804	0.43891	Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;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	0.001008	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	820.33	36	chr5	14476917	.	A	G	820.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.631;DP=740;ExcessHet=0;FS=1.852;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.25;ReadPosRankSum=-0.808;SOR=0.477	GT:AD:DP:GQ:PL	0/1:44,36:80:99:834,0,1095	18	0	1	0
chr5	14487504	14487504	-	GGC	exonic	TRIO	.	nonframeshift insertion	TRIO:NM_007118:exon48:c.6876_6877insGGC:p.G2298_S2299insG	Mental retardation, autosomal dominant 44, Autosomal dominant	6	1505	8	3	0	14	0.00462963	.	.	.	709701	not_provided|Micrognathia-recurrent_infections-behavioral_abnormalities-mild_intellectual_disability_syndrome|Intellectual_developmental_disorder,_autosomal_dominant_63,_with_macrocephaly|Inborn_genetic_diseases|TRIO-related_disorder	MedGen:C3661900|MONDO:MONDO:0014892,MedGen:C4310740,OMIM:617061,Orphanet:476126|MONDO:MONDO:0032939,MedGen:C5394205,OMIM:618825|MeSH:D030342,MedGen:C0950123|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0011	.	0.0008	0.0002	0.0004	0.0066	0	0.0002	0	0.0004	0.0005627	87	154602	rs773658015	0.0005	0.0004	0.0005	0.0004	0.0046	0.0004	0.0004	0.0036	0.0032	0.0002	0.0005	0.0015	0.0046	4.747e-05	0.0021	0.0004	0.0009	0.0006	0.0009	0.0009	0.0008	0.0009	0.0068	0.0007	0.0007	0.0050	0.0044	0.0004	0	0.0015	0.0029	0.0068	0	0	0.0006	0.0005	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	657.29	33	chr5	14487504	.	G	GGGC	657.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.187;DP=706;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=21.2;ReadPosRankSum=-1.053;SOR=0.963	GT:AD:DP:GQ:PL	0/1:14,17:31:99:671,0,533	18	0	1	0
chr5	35871212	35871212	C	T	exonic	IL7R	.	nonsynonymous SNV	IL7R:NM_002185:exon4:c.C536T:p.T179M	Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type, Autosomal recessive	.	.	.	.	.	.	.	0.0012	0.102	YES	1892073	Immunodeficiency_104|not_specified	MONDO:MONDO:0012163,MedGen:C5676890,OMIM:608971|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.136	0.00389211897062	.	.	9.411e-05	0	0.0002	0.0009	0	1.562e-05	0	0	7.12e-05	11	154602	rs200751605	3.777e-05	4.173e-05	3.829e-05	3.725e-05	0.0009	2.971e-05	2.666e-05	0.0007	0.0006	0	2.238e-05	0	0.0009	0	0.0002	1.084e-05	3.325e-05	3.483e-05	3.287e-05	3.284e-05	3.855e-05	2.692e-05	0.0010	1.261e-05	7.98e-06	0.0004	0.0002	0	0	0	0	0.0010	0	0	0	0	0	0.409	0.10180	T	0.328	0.18675	T	0.012	0.16265	B	0.003	0.08700	B	0.118225	0.19122	N	0.591181	0.998686	0.21986	N	-1.37	0.00637	N	0.36	0.57880	T	0.07	0.16598	N	0.147	0.14905	-1.0484	0.14846	T	0.039	0.16634	T	10	0.018188357	0.00393	T	0.003892	0.09148	T	0.136	0.36778	0.441	0.49648	0.490771696789	0.48710	0.22278173629223655	0.22193	0.0141959289867	0.01355	0.335486233234	0.15762	T	0.118733	0.43977	T	-0.434152	0.01400	T	-0.431784	0.29732	T	0.0343631292772797	0.02699	T	0.393061	0.09795	T	0.04371096	0.06861	0.037942916	0.03556	0.04371096	0.06861	0.037942916	0.03556	-3.881	0.26519	T	0.062194274880692624	0.01827	0.048	0.00084	B	.;.	.;.	1.140539	0.15277	11.73	0.95295336425394594	0.26607	0.01727	0.05464	N	AEFBI	0.043722	0.06948	N	-1.0808663057083	0.06996	0.324	-0.939685689614371	0.11163	0.5670264	0.961159513049245	0.28535	0.554377	0.28877	0	0.547309	0.14657	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.41	-3.6	0.04277	-0.205000	0.09413	-1.182000	0.06094	-0.108000	0.15293	0.958000	0.33488	0.002000	0.18203	0.921000	0.45669	0.2481:0.3183:0.1272:0.3064	0.997	0.01377	634	0.64659	Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1564.33	36	chr5	35871212	.	C	T	1564.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.09;DP=804;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.19;ReadPosRankSum=0.714;SOR=0.723	GT:AD:DP:GQ:PL	0/1:48,55:103:99:1578,0,1121	18	0	1	0
chr5	40853902	40853902	C	T	exonic	CARD6	.	nonsynonymous SNV	CARD6:NM_032587:exon3:c.C2570T:p.S857L	.	425	1079	18	0	0	18	0.00827206	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00410600996475	0.0027	0.00159744	0.0024	0.0006	0.0014	0	0.0014	0.0037	0.0044	0.0011	0.0024191	374	154602	rs148780446	0.0026	0.0026	0.0025	0.0027	0.0102	0.0025	0.0025	0.0081	0.0074	0.0006	0.0022	0.0016	0	0.0013	0.0102	0.0029	0.0027	0.0012	0.0027	0.0027	0.0027	0.0027	0.0043	0.0025	0.0024	0.0039	0.0037	0.0006	0.0011	0.0031	0.0012	0	0.0023	0.0034	0.0043	0.0052	0.0008	1.0	0.00964	T	0.611	0.07666	T	0.002	0.09854	B	0.003	0.08700	B	0.429181	0.04694	N	1.414550	1	0.08975	N	0.255	0.09829	N	2.62	0.12988	T	-1.1	0.28497	N	0.092	0.07125	-0.9757	0.35970	T	0.020	0.08407	T	10	0.004354179	0.00088	T	0.004106	0.09806	T	0.023	0.04649	.	.	0.171388866994	0.16791	0.08456952007917354	0.08390	0.0254265368398	0.02595	0.262113213539	0.05144	T	0.013495	0.11662	T	-0.620703	0.00109	T	-0.663557	0.08028	T	0.00111350901734773	0.00011	T	0.556944	0.19352	T	0.020639135	0.00629	0.031389404	0.01720	0.020639135	0.00629	0.031389404	0.01720	-3.764	0.20268	T	.	.	0.096	0.15385	B	.	.	0.975961	0.13534	10.06	0.79962525394144957	0.12981	0.02723	0.07386	N	AEFDGBI	0.043554	0.06900	N	-0.977136948018202	0.09093	0.428983	-0.989187056023902	0.10027	0.5024787	0.999647585175809	0.41316	0.706548	0.73137	0	0.588015	0.36545	0	0.618467	0.43123	0	0.714379	0.83352	0	.	.	4.9	0.847	0.18099	-0.071000	0.11465	0.597000	0.19884	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.136000	0.19798	0.0:0.5993:0.0:0.4007	7.925	0.29034	479	0.77495	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.015106	0.020202	0.017663	0.005848	0.000000	0.034483	0.018293	0.000000	0.02632	1740.33	34	chr5	40853902	.	C	T	1740.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.525;DP=780;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.6;ReadPosRankSum=0.708;SOR=0.652	GT:AD:DP:GQ:PL	0/1:66,62:128:99:1754,0,1899	18	0	1	0
chr5	51389708	51389708	A	T	exonic	ISL1	.	nonsynonymous SNV	ISL1:NM_002202:exon4:c.A541T:p.T181S	.	424	1094	4	0	0	4	0.00182482	.	.	.	2797948	ISL1-related_disorder	.	no_assertion_criteria_provided	Uncertain_significance	.	.	.	.	.	.	.	.	0.415	0.46489656265	.	0.000399361	0.0001	0	0.0002	0	0	0.0002	0	0	0.0001294	20	154602	rs200209474	0.0001	0.0001	0.0001	0.0002	0.0021	0.0001	0.0001	0.0012	0.0010	0	0.0007	3.827e-05	0	1.875e-05	0.0021	0.0001	0.0004	2.319e-05	0.0003	0.0003	0.0003	0.0003	0.0018	0.0002	0.0002	0.0012	0.0011	2.406e-05	0	0.0018	0	0	0	0	0.0002	0.0005	0	0.159	0.30800	T	0.432	0.13634	T	0.87	0.47827	P	0.542	0.48916	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.285	0.65182	M	-3.73	0.95458	D	-1.66	0.39692	N	0.414	0.45426	0.533	0.91006	D	0.785	0.92701	D	10	0.08828819	0.15187	T	0.464897	0.94578	D	0.415	0.72555	0.195	0.10705	0.82367983143	0.82201	0.573406871024595	0.57269	1.03888108303	0.75718	0.905664026737	0.97044	D	0.335681	0.70527	T	-0.0615673	0.42662	T	-0.020237	0.69013	D	0.0915610416887189	0.11402	T	0.818818	0.47619	T	0.2418684	0.47108	0.28264138	0.54253	0.2418684	0.47108	0.28264138	0.54252	-9.111	0.68408	D	.	.	0.552	0.70893	A	.;.	.;.	3.998628	0.58906	24.0	0.98279589134511136	0.39842	0.96368	0.68797	D	AEFDBCI	0.936266	0.93232	D	0.409159287360377	0.61926	4.400405	0.516686809775643	0.69111	5.314119	0.999999998032099	0.74766	0.582742	0.33608	0	0.563428	0.19063	0	0.606814	0.37721	0	0.620976	0.48614	0	.	.	6.02	6.02	0.97559	7.462000	0.79890	11.189000	0.88595	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	1.0:0.0:0.0:0.0	16.549	0.84312	870	0.31527	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	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1046.33	45	chr5	51389708	.	A	T	1046.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.515;DP=746;ExcessHet=0;FS=1.7;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.01;ReadPosRankSum=0.924;SOR=0.527	GT:AD:DP:GQ:PL	0/1:49,46:95:99:1060,0,1304	18	0	1	0
chr5	53048657	53048657	A	G	exonic	ITGA2	.	nonsynonymous SNV	ITGA2:NM_002203:exon6:c.A517G:p.I173V	.	0	1487	33	2	0	37	0.0122883	.	.	.	299875	Platelet-type_bleeding_disorder_9|not_provided	MONDO:MONDO:0013622,MedGen:C3280114,OMIM:614200,Orphanet:73271,Orphanet:98886|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.077	0.00869945483086	0.0027	0.00239617	0.0032	0.0009	0.0021	0	0	0.0031	0.0055	0.0086	0.0030013	464	154602	rs55973669	0.0029	0.0029	0.0026	0.0033	0.0099	0.0029	0.0028	0.0093	0.0091	0.0004	0.0031	0.0047	2.519e-05	0.0003	0.0099	0.0026	0.0031	0.0098	0.0026	0.0026	0.0024	0.0028	0.0083	0.0024	0.0023	0.0063	0.0056	0.0007	0.0066	0.0069	0.0055	0.0002	9.461e-05	0.0068	0.0026	0.0043	0.0083	0.263	0.16412	T	0.207	0.26969	T	.	.	.	.	.	.	0.000001	0.62929	N	0.098626	0.94738	0.37566	D	.	.	.	0.59	0.53943	T	-0.25	0.11008	N	0.12	0.11054	-1.0351	0.18825	T	0.057	0.24018	T	10	0.00892508	0.00202	T	0.008699	0.22976	T	0.077	0.22490	.	.	0.594311586281	0.59109	0.286997681205675	0.28612	0.143906014604	0.16252	0.31325045228	0.12398	T	.	.	.	-0.542054	0.00326	T	-0.544719	0.17836	T	0.00466965039524367	0.00050	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.25364	B	.	.	1.849660	0.23498	16.04	0.98223612721775777	0.39325	0.96449	0.69194	D	AEFBI	0.335782	0.43411	N	-0.468449192676952	0.23120	1.239301	-0.27737536356029	0.28844	1.61147	0.999168070309967	0.38622	0.732398	0.92422	0	0.59043	0.45803	0	0.618467	0.43123	0	0.727631	0.95156	0	.	.	5.28	2.93	0.33092	4.018000	0.56886	4.046000	0.41467	0.756000	0.94297	0.999000	0.42656	0.998000	0.33993	0.973000	0.55318	0.7856:0.0:0.2144:0.0	8.515	0.32403	856	0.34373	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.008056	0.010101	0.002717	0.005848	0.000000	0.008621	0.018293	0.007576	0.02632	1316.33	33	chr5	53048657	.	A	G	1316.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.031;DP=738;ExcessHet=0;FS=4.582;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.75;ReadPosRankSum=1.24;SOR=0.524	GT:AD:DP:GQ:PL	0/1:52,60:112:99:1330,0,1273	18	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	.	.	.	.	.	.	.	.	0.2632	680.05	58	chr5	75146001	.	A	G	680.05	.	AC=10;AF=0.263;AN=38;BaseQRankSum=-2.908;DP=1586;ExcessHet=6.9875;FS=78.135;InbreedingCoeff=-0.3633;MLEAC=10;MLEAF=0.263;MQ=60;MQRankSum=0;QD=0.69;ReadPosRankSum=1.52;SOR=10.468	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:73,14:87:17:.:.:17,0,1628:.	9	0	10	0
chr5	80558974	80558974	G	A	exonic	ANKRD34B	.	nonsynonymous SNV	ANKRD34B:NM_001004441:exon5:c.C1046T:p.T349I	.	434	1079	8	1	0	10	0.00461255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.00327143823756	.	0.000399361	0.0002	0	0	0	0	8.994e-05	0	0.0011	0.0001682	26	154602	rs143937500	0.0001	0.0001	6.125e-05	0.0002	0.0014	9.603e-05	9.082e-05	0.0009	0.0008	0	2.236e-05	0	0	0	0.0014	4.496e-05	0.0001	0.0011	4.596e-05	4.593e-05	3.854e-05	5.372e-05	0.0004	2.108e-05	1.526e-05	7.29e-05	3.029e-05	0	0	0	0	0	0	0	7.35e-05	0	0.0004	0.428	0.09600	T	0.304	0.20100	T	0.017	0.17573	B	0.013	0.16460	B	0.641070	0.05868	N	1.223500	0.999	0.21398	N	1.3	0.32576	L	2.44	0.15145	T	-1.78	0.42001	N	0.043	0.01577	-1.0214	0.23259	T	0.040	0.17191	T	10	0.004984379	0.00107	T	0.003271	0.07237	T	0.068	0.19811	.	.	0.162503812791	0.15892	0.19691783316738778	0.19608	0.115681763557	0.13049	0.331651449203	0.15183	T	0.01743	0.14224	T	-0.476854	0.00772	T	-0.503296	0.22007	T	0.00892529376935338	0.00111	T	0.471453	0.13989	T	0.07135067	0.15790	0.07866496	0.17641	0.07135067	0.15789	0.07866496	0.17640	-4.345	0.28802	T	.	.	0.110	0.21011	B	.	.	1.232713	0.16276	12.43	0.60916525105411512	0.06580	0.50154	0.28597	D	AEFBI	0.166035	0.29258	N	-0.53807284858152	0.20859	1.102784	-0.492744082543391	0.22353	1.213677	0.0184276672234629	0.13057	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.530356	0.10902	0	.	.	5.36	3.57	0.40014	1.473000	0.34995	1.772000	0.28642	0.676000	0.76740	0.005000	0.17040	0.007000	0.19602	0.961000	0.51904	0.2388:0.0:0.7612:0.0	8.423	0.31876	677	0.60274	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.008772	0.000000	0.000000	0.000000	0.000000	0.02632	878.33	34	chr5	80558974	.	G	A	878.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.047;DP=749;ExcessHet=0;FS=0.834;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.33;ReadPosRankSum=0.697;SOR=0.531	GT:AD:DP:GQ:PL	0/1:50,35:85:99:892,0,1565	18	0	1	0
chr5	80654889	80654898	TGCAGCGGCC	0	exonic	MSH3	.	.	.	Endometrial carcinoma, somatic;Familial adenomatous polyposis 4, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	1959.77	54	chr5	80654889	.	TGCAGCGGCC	*	1959.77	.	AC=10;AF=0.263;AN=38;BaseQRankSum=0.317;DP=1361;ExcessHet=1.7862;FS=1.139;InbreedingCoeff=-0.0523;MLEAC=10;MLEAF=0.263;MQ=60;MQRankSum=0;QD=2.3;ReadPosRankSum=-0.052;SOR=0.811	GT:AD:DP:GQ:PL	0/1:34,55:89:99:2020,0,1203	10	1	8	0
chr5	80654891	80654891	C	0	exonic	MSH3	.	.	.	Endometrial carcinoma, somatic;Familial adenomatous polyposis 4, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2778	937.8	51	chr5	80654891	.	C	*	937.8	.	AC=10;AF=0.278;AN=36;DP=1313;ExcessHet=0.684;FS=0.544;InbreedingCoeff=0.1068;MLEAC=10;MLEAF=0.278;MQ=60;QD=1.26;SOR=0.657	GT:AD:DP:GQ:PL	0/1:34,55:89:99:2020,0,1203	9	1	8	1
chr5	90811188	90811188	C	T	exonic	ADGRV1	.	nonsynonymous SNV	ADGRV1:NM_032119:exon74:c.C15928T:p.R5310C	Usher syndrome, type 2C, Autosomal recessive, Digenic dominant;Usher syndrome, type 2C, GPR98/PDZD7 digenic, Autosomal recessive, Digenic dominant	.	.	.	.	.	.	.	.	.	.	1980435	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.064	0.010586042474	.	.	1.712e-05	0	0.0002	0	0	0	0	0	1.29e-05	2	154602	rs777578222	4.79e-06	4.788e-06	5.446e-06	4.127e-06	0.0001	1.99e-06	1.28e-06	4.362e-05	2.769e-05	0	0.0001	0	0	0	0	1.799e-06	0	0	6.579e-06	6.57e-06	1.286e-05	0	6.546e-05	0	0	.	.	0	0	6.546e-05	0	0	0	0	0	0	0	0.036	0.43393	D	0.062	0.45318	T	0.022	0.18677	B	0.005	0.11217	B	0.624294	0.05774	N	1.167380	0.968031	0.38633	D	.	.	.	1.66	0.27486	T	-2.21	0.49684	N	0.129	0.12341	-1.0196	0.23845	T	0.134	0.44759	T	9	0.10988912	0.20517	T	0.010586	0.27302	T	0.064	0.18567	0.515	0.61459	0.444605663662	0.44078	0.4803555091698151	0.47955	0.101123719384	0.11430	0.20775295794	0.00720	T	0.089921	0.38475	T	-0.3536	0.04505	T	-0.519996	0.20296	T	0.347642451524734	0.26926	T	0.735226	0.35154	T	0.14622216	0.33484	0.11013937	0.26552	0.14622216	0.33483	0.11013937	0.26551	-7.973	0.60886	D	.	.	0.092	0.22282	B	.;.;.	.;.;.	3.729639	0.53349	23.4	0.99753279184285404	0.84460	0.48473	0.28215	N	AEFBI	0.204939	0.33133	N	-0.119241329505019	0.36556	2.114563	-0.152492002445143	0.33313	1.904255	6.98578482032823E-4	0.07645	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.47	3.47	0.38831	1.463000	0.34887	1.951000	0.29885	0.599000	0.40250	0.823000	0.30032	0.858000	0.27459	0.884000	0.42379	0.4269:0.5731:0.0:0.0	12.969	0.57900	769	0.49307	.;.;Na-Ca exchanger/integrin-beta4	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1532.33	36	chr5	90811188	.	C	T	1532.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.12;DP=907;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.77;ReadPosRankSum=-0.179;SOR=0.631	GT:AD:DP:GQ:PL	0/1:65,55:120:99:1546,0,1688	18	0	1	0
chr5	95621031	95621031	C	A	exonic	GPR150	.	stopgain	GPR150:NM_199243:exon1:c.C756A:p.C252X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.788e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002892	0.35770	N	0.124032	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.066	0.03841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.456954	0.92789	D	0.418607	0.92700	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	7.801419	0.96875	36	0.99359126191256975	0.60946	0.04561	0.10203	N	AEFDGBCIJ	0.084769	0.17181	N	0.615029806178501	0.74125	6.079754	0.374488579750209	0.59995	4.182537	0.999999999933644	0.74766	0.437478	0.07067	0	0.405561	0.06353	1	0.606814	0.37721	0	0.554799	0.18163	0	.	.	4.0	4.0	0.45673	2.734000	0.47041	0.968000	0.23038	0.508000	0.23123	0.115000	0.23085	0.999000	0.35428	0.936000	0.47498	0.0:0.8951:0.0:0.1049	9.503	0.38194	608	0.67185	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1200.33	37	chr5	95621031	.	C	A	1200.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.698;DP=758;ExcessHet=0;FS=0.748;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12;ReadPosRankSum=-0.228;SOR=0.606	GT:AD:DP:GQ:PL	0/1:49,51:100:99:1214,0,1194	18	0	1	0
chr5	109820302	109820302	A	G	exonic	MAN2A1	.	nonsynonymous SNV	MAN2A1:NM_002372:exon15:c.A2411G:p.K804R	.	423	1094	5	0	0	5	0.00227998	.	.	.	2323482	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.329	0.0419462146628	.	.	0.0002	0	0	0	0	9.024e-05	0	0.0013	0.0001811	28	154602	rs760261940	0.0001	0.0001	6.401e-05	0.0002	0.0013	9.54e-05	9.02e-05	0.0011	0.0010	0	0	0	0	0	0.0012	3.059e-05	0.0001	0.0013	5.915e-05	5.91e-05	3.854e-05	8.072e-05	0.0006	3.078e-05	2.21e-05	0.0002	8.985e-05	2.413e-05	0	0.0001	0	0	0	0	4.41e-05	0	0.0006	0.222	0.18823	T	0.365	0.16717	T	0.041	0.21357	B	0.06	0.26717	B	0.000000	0.84330	D	0.049927	0.999889	0.50402	D	1.865	0.49290	L	-1.19	0.78427	T	-1.1	0.28497	N	0.345	0.38643	-0.6209	0.63951	T	0.330	0.69741	T	10	0.09906942	0.17953	T	0.041946	0.60201	D	0.329	0.65126	0.618	0.75232	0.658416286431	0.65555	0.4590594444054112	0.45823	0.180917461197	0.20346	0.389857530594	0.23649	T	0.259541	0.63082	T	-0.31037	0.07716	T	-0.269042	0.47917	T	0.0984139202057306	0.12182	T	0.891811	0.62701	D	0.10672652	0.25235	0.109332114	0.26349	0.10672652	0.25235	0.109332114	0.26348	-5.734	0.43995	T	.	.	0.091	0.12891	B	.	.	3.275914	0.44867	22.0	0.99499943902901267	0.67973	0.93854	0.59383	D	AEFBI	0.509516	0.53895	D	-0.0362204117137956	0.40221	2.384861	0.127761439970725	0.45974	2.851241	0.999958930252612	0.48110	0.706548	0.73137	0	0.708844	0.79440	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.97	4.81	0.61401	5.665000	0.67722	7.742000	0.68018	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.859000	0.40722	0.931:0.0:0.0689:0.0	11.995	0.52488	745	0.52414	Glycosyl hydrolase family 38, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	472.33	34	chr5	109820302	.	A	G	472.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.945;DP=679;ExcessHet=0;FS=2.535;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.64;ReadPosRankSum=0.193;SOR=0.336	GT:AD:DP:GQ:PL	0/1:29,20:49:99:486,0,861	18	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	.	.	.	.	.	.	.	.	0.1579	625.71	48	chr5	119499449	.	T	C	625.71	.	AC=6;AF=0.158;AN=38;BaseQRankSum=-3.063;DP=1334;ExcessHet=2.0135;FS=121.192;InbreedingCoeff=-0.1823;MLEAC=6;MLEAF=0.158;MQ=60;MQRankSum=0;QD=1.12;ReadPosRankSum=1.66;SOR=10.484	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:84,10:94:50:0|1:119499447_G_C:50,0,3249:119499447	13	0	6	0
chr5	128288438	128288438	C	G	exonic	FBN2	.	nonsynonymous SNV	FBN2:NM_001999:exon53:c.G6757C:p.D2253H	Contractural arachnodactyly, congenital, Autosomal dominant;Macular degeneration, early-onset, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.879	0.430626382782	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	0.694607	0.10146	N	0.852832	1	0.81001	D	3.835	0.95663	H	-5.39	0.99055	D	-5.33	0.84601	D	0.946	0.95374	1.101	0.99694	D	0.983	0.99482	D	9	0.98123467	0.98137	D	0.430626	0.93974	D	0.879	0.96428	0.905	0.97985	0.931387637819	0.93068	0.9248113223682665	0.92458	0.944348631935	0.72353	0.844889104366	0.88841	D	0.843142	0.96360	D	0.584583	0.97082	D	0.601936	0.97034	D	0.999141216278076	0.96328	D	0.989326	0.96464	D	0.6636905	0.76096	0.6756067	0.80952	0.6636905	0.76098	0.6756067	0.80952	-14.719	0.95159	D	.	.	0.995	0.95383	P	.;.;.	.;.;.	6.541209	0.95375	34	0.99491875384234207	0.67516	0.99662	0.98450	D	AEFBI	0.955192	0.97285	D	0.930340387445476	0.93165	11.86249	0.848877612808232	0.92950	11.73124	0.999999999969448	0.74766	0.732398	0.92422	0	0.573888	0.26702	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	4.86	4.86	0.62624	7.905000	0.86479	5.978000	0.52118	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	0.0:1.0:0.0:0.0	18.546	0.90998	733	0.53988	EGF-like calcium-binding domain|EGF-like domain|EGF-like calcium-binding domain;EGF-like calcium-binding domain|EGF-like domain|EGF-like calcium-binding domain;EGF-like calcium-binding domain|EGF-like domain|EGF-like calcium-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	1727.26	102	chr5	128288438	.	C	G	1727.26	.	AC=8;AF=0.286;AN=28;BaseQRankSum=-1.028;DP=1798;ExcessHet=4.0268;FS=185.259;InbreedingCoeff=-0.3823;MLEAC=10;MLEAF=0.357;MQ=60;MQRankSum=0;QD=2.11;ReadPosRankSum=1.46;SOR=11.604	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:83,35:124:99:.:.:176,0,1343:.	6	0	8	5
chr5	132813875	132813875	C	A	exonic	SOWAHA	.	nonsynonymous SNV	SOWAHA:NM_175873:exon1:c.C254A:p.P85H	.	384	1133	5	0	0	5	0.00220167	.	.	.	2353480	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.010	0.0935680633703	.	0.000199681	0.0005	0.0007	0	0	0	0.0010	0	0.0001	0.0001294	20	154602	rs532960429	0.0005	0.0005	0.0005	0.0005	0.0050	0.0005	0.0004	0.0035	0.0031	0.0002	0.0006	0.0007	2.807e-05	0	0.0050	0.0005	0.0003	0.0002	0.0004	0.0004	0.0003	0.0004	0.0008	0.0003	0.0003	0.0005	0.0004	9.628e-05	0	0.0008	0.0003	0	0	0.0034	0.0005	0.0009	0	0.371	0.11514	T	0.078	0.42261	T	.	.	.	.	.	.	.	.	.	.	0.994169	0.23574	N	.	.	.	1.18	0.37746	T	-1.04	0.27259	N	0.15	0.15328	-1.0209	0.23421	T	0.053	0.22307	T	9	0.012470573	0.00268	T	0.093568	0.76096	D	0.010	0.01040	.	.	0.130388298395	0.12655	0.1720411341901102	0.17124	.	.	0.578879356384	0.49928	T	.	.	.	-0.455737	0.01044	T	-0.483759	0.24047	T	0.00670660179221519	0.00075	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.16010	B	.	.	1.646549	0.21009	15.01	0.93268615204663496	0.22967	0.13763	0.18038	N	AEFDBHCI	0.106442	0.21238	N	-1.00372417042158	0.08526	0.4000927	-0.986397930009115	0.10091	0.5060292	0.995549242077923	0.34186	0.437478	0.07067	0	0.491552	0.07993	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	4.53	2.67	0.30756	1.007000	0.29462	-0.579000	0.08386	0.437000	0.21030	0.002000	0.15269	0.000000	0.08366	0.008000	0.08271	0.1598:0.5303:0.3099:0.0	8.753	0.33788	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	0.005426	0.000000	0.004878	0.007576	0.000000	0.000000	0.012821	0.000000	0.02632	953.33	34	chr5	132813875	.	C	A	953.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.904;DP=738;ExcessHet=0;FS=2.705;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.83;ReadPosRankSum=0.047;SOR=1.017	GT:AD:DP:GQ:PL	0/1:54,43:97:99:967,0,1346	18	0	1	0
chr5	132824342	132824342	G	A	exonic	SHROOM1	.	nonsynonymous SNV	SHROOM1:NM_133456:exon4:c.C1319T:p.P440L,SHROOM1:NM_001172700:exon7:c.C1319T:p.P440L	.	424	1093	5	0	0	5	0.00228206	.	.	.	2349129	SHROOM1-related_disorder|not_specified	.|MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.009	0.0169465468172	0.0006	0.000199681	0.0005	0.0004	0.0007	0.0006	0	0.0006	0	0.0002	0.0004657	72	154602	rs150299882	0.0006	0.0006	0.0006	0.0005	0.0052	0.0005	0.0005	0.0038	0.0033	0.0001	0.0008	0.0007	0.0002	0	0.0052	0.0006	0.0003	0.0002	0.0004	0.0004	0.0003	0.0005	0.0008	0.0003	0.0003	0.0005	0.0004	0.0001	0	0.0008	0.0003	0	0	0.0034	0.0006	0.0009	0	0.021	0.49117	D	0.069	0.43913	T	0.029	0.22227	B	0.01	0.19966	B	0.938521	0.08370	N	0.971042	1	0.08975	N	1.495	0.37439	L	1.58	0.29085	T	-2.17	0.53096	N	0.156	0.16308	-1.0171	0.24657	T	0.048	0.20395	T	10	0.019893974	0.00450	T	0.016947	0.38442	T	0.009	0.00846	.	.	0.396494342077	0.39262	0.11409409466919676	0.11337	0.0140498630895	0.01340	0.259575933218	0.04840	T	0.049948	0.28454	T	-0.552188	0.00283	T	-0.64007	0.09664	T	0.0166302090854613	0.00423	T	0.677732	0.28664	T	0.04742891	0.08104	0.046085276	0.06345	0.04742891	0.08104	0.046085276	0.06345	-3.675	0.18994	T	.	.	0.074	0.14477	B	.;.;.;.	.;.;.;.	0.703158	0.10717	7.411	0.85305018353693829	0.15810	0.07410	0.13430	N	AEFDBCI	0.082283	0.16659	N	-1.05466746613157	0.07496	0.3484223	-1.06551847650336	0.08386	0.4121341	0.999975903160536	0.50053	0.676563	0.55306	0	0.659912	0.62753	0	0.673471	0.61138	0	0.636168	0.56350	0	.	.	4.11	2.34	0.28071	0.418000	0.20950	1.040000	0.23550	-0.127000	0.13314	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.215:0.0:0.785:0.0	6.561	0.21682	908	0.22609	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.004076	0.005848	0.000000	0.008621	0.006098	0.000000	0.02632	1092.33	113	chr5	132824342	.	G	A	1092.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.67;DP=1191;ExcessHet=0;FS=2.683;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.71;ReadPosRankSum=-0.684;SOR=1.038	GT:AD:DP:GQ:PL	0/1:60,42:102:99:1106,0,1516	18	0	1	0
chr5	133086825	133086825	G	C	exonic	HSPA4	.	nonsynonymous SNV	HSPA4:NM_002154:exon8:c.G952C:p.E318Q	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.290	0.0170164323925	7.7e-05	.	2.475e-05	0	0	0	0	4.502e-05	0	0	1.94e-05	3	154602	rs373628820	9.579e-06	9.577e-06	8.169e-06	1.1e-05	1.169e-05	5.56e-06	4.35e-06	6.52e-06	5.03e-06	0	0	0	0	0	0	1.169e-05	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.089	0.42976	T	0.262	0.31549	B	0.357	0.43052	B	0.000000	0.84330	D	0.091326	1	0.81001	D	2.005	0.54552	M	1.54	0.30133	T	-2.69	0.57435	D	0.799	0.79792	-1.0158	0.25078	T	0.119	0.41756	T	10	0.78054637	0.77817	D	0.017016	0.38544	T	0.290	0.60924	.	.	0.654707454184	0.65182	0.6003537971548106	0.59966	0.821707907839	0.67205	0.54437816143	0.45064	T	0.294966	0.66764	T	-0.0170009	0.49280	T	-0.15454	0.58840	T	0.767617762088776	0.44297	D	0.981302	0.93576	D	0.6710429	0.76488	0.5899041	0.76207	0.6710429	0.76490	0.5899041	0.76208	-11.447	0.82053	D	.	.	0.212	0.49353	B	.;.;.	.;.;.	4.691150	0.75173	26.3	0.99768787927713587	0.85750	0.99591	0.97770	D	AEFBI	0.914322	0.87753	D	0.389559308658942	0.60856	4.279261	0.512944455527532	0.68858	5.278709	0.999999999979249	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.42	5.42	0.78666	9.499000	0.96960	11.767000	0.95766	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.221	0.93781	897	0.25382	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1107.33	36	chr5	133086825	.	G	C	1107.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.63;DP=707;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.91;ReadPosRankSum=-1.138;SOR=0.737	GT:AD:DP:GQ:PL	0/1:47,46:93:99:1121,0,1108	18	0	1	0
chr5	133400970	133400970	G	C	exonic	FSTL4	.	nonsynonymous SNV	FSTL4:NM_015082:exon4:c.C177G:p.N59K	.	427	1092	3	0	0	3	0.00137174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.00798425516394	7.7e-05	0.000199681	0.0003	0	8.699e-05	0	0	1.573e-05	0.0012	0.0023	0.0002717	42	154602	rs370273827	0.0002	0.0002	8.582e-05	0.0002	0.0025	0.0001	0.0001	0.0022	0.0021	0	2.236e-05	0	0	0	0.0003	3.597e-06	0.0001	0.0025	0.0001	0.0001	3.853e-05	0.0003	0.0041	9.735e-05	8.25e-05	0.0027	0.0023	0	0	0	0	0	0	0	2.94e-05	0	0.0041	0.073	0.43393	T	0.069	0.43913	T	0.029	0.19866	B	0.018	0.18489	B	0.000073	0.00414	N	4.405430	1	0.08975	N	0.695	0.17993	N	0.37	0.57729	T	-0.82	0.22508	N	0.233	0.26233	-0.9932	0.31775	T	0.091	0.34710	T	10	0.0046454966	0.00097	T	0.007984	0.21162	T	0.059	0.16972	0.16	0.06396	0.530978576197	0.52746	0.6302735315787585	0.62961	0.26326674649	0.28884	0.272370398045	0.06452	T	0.058144	0.30762	T	-0.545391	0.00311	T	-0.56205	0.16185	T	0.0400880785999832	0.03707	T	0.455954	0.13062	T	0.05531784	0.10735	0.05081166	0.08049	0.05531784	0.10735	0.05081166	0.08049	-2.274	0.04415	T	.	.	0.082	0.20196	B	.;.;.	.;.;.	-1.609404	0.00235	0.004	0.72760239489496115	0.10086	0.10118	0.15712	N	AEFDBI	0.171479	0.29845	N	-1.8854786483526	0.00368	0.01580081	-2.01791743444744	0.00281	0.01238451	0.999998919062272	0.74766	0.497415	0.19182	0	0.547309	0.14657	0	0.298653	0.05632	1	0.542086	0.14980	0	.	.	4.33	-8.67	0.00748	-0.576000	0.05947	-7.929000	0.01059	-1.439000	0.01106	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5712:0.0828:0.2634:0.0826	6.161	0.19582	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	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.007576	0.02632	484.33	39	chr5	133400970	.	G	C	484.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.22;DP=695;ExcessHet=0;FS=1.131;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.31;ReadPosRankSum=0.447;SOR=0.483	GT:AD:DP:GQ:PL	0/1:33,19:52:99:498,0,950	18	0	1	0
chr5	136055683	136055683	C	G	exonic	TGFBI	.	nonsynonymous SNV	TGFBI:NM_000358:exon11:c.C1414G:p.L472V	Corneal dystrophy, Avellino type, Autosomal dominant;Corneal dystrophy, Groenouw type I, Autosomal dominant;Corneal dystrophy, Reis-Bucklers type;Corneal dystrophy, Thiel-Behnke type, Autosomal dominant;Corneal dystrophy, epithelial basement membrane, Autosomal dominant;Corneal dystrophy, lattice type I, Autosomal dominant;Corneal dystrophy, lattice type IIIA, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.0359188913848	.	.	8.72e-06	0	0	0	0	1.55e-05	0	0	6.5e-06	1	154602	rs748172304	4.832e-06	4.788e-06	6.843e-06	2.785e-06	2.25e-05	2.01e-06	1.29e-06	1.33e-06	9.7e-07	0	2.25e-05	0	0	0	0	4.538e-06	1.676e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.953	0.02596	T	0.946	0.53363	P	0.669	0.53077	P	0.000000	0.84330	D	0.000000	0.999995	0.58761	D	1.035	0.25616	L	-2.5	0.89219	D	0.17	0.05125	N	0.445	0.48319	-0.8626	0.51075	T	0.194	0.54754	T	10	0.39513716	0.55171	T	0.035919	0.56656	D	0.610	0.84719	0.466	0.53729	0.909368473008	0.90846	0.6866400006191458	0.68603	0.162466490262	0.18328	0.745086789131	0.73722	T	0.310127	0.68210	T	0.248694	0.78478	D	0.20232	0.83256	D	0.363735347986221	0.27555	T	0.907909	0.67446	D	0.43455437	0.63050	0.1439342	0.34189	0.43455437	0.63050	0.1439342	0.34188	0.071	0.00325	T	0.2314771691879137	0.31326	0.204	0.42906	B	.	.	2.380159	0.30549	18.47	0.93599114132953032	0.23455	0.90079	0.50979	D	AEFBCI	0.895708	0.83603	D	0.163960036658719	0.49476	3.147457	0.238597884363468	0.52005	3.378264	0.999999998581728	0.74766	0.643511	0.44296	0	0.563428	0.19063	0	0.658983	0.55881	0	0.631631	0.49550	0	.	.	6.17	4.16	0.48138	3.161000	0.50446	3.269000	0.37146	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.850000	0.40195	0.0:0.8356:0.0:0.1644	11.653	0.50559	775	0.48401	FAS1 domain|FAS1 domain|FAS1 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	915.33	38	chr5	136055683	.	C	G	915.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.851;DP=804;ExcessHet=0;FS=0.832;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.17;ReadPosRankSum=-0.19;SOR=0.877	GT:AD:DP:GQ:PL	0/1:48,42:90:99:929,0,1217	18	0	1	0
chr5	138386329	138386329	A	C	exonic	KDM3B	.	nonsynonymous SNV	KDM3B:NM_016604:exon7:c.A1088C:p.N363T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.281	0.0411498965892	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.06	0.45744	T	0.993	0.65571	D	0.984	0.76113	D	0.000001	0.84330	D	0.094000	1	0.81001	D	0.975	0.24501	L	-0.27	0.67367	T	-1.52	0.36980	N	0.669	0.67736	-0.1134	0.79789	T	0.456	0.78831	T	10	0.5567499	0.64560	D	0.04115	0.59768	D	0.281	0.59861	0.268	0.21576	0.223474106383	0.21959	0.5734301853859414	0.57272	1.53634483555	0.87659	0.745491743088	0.73781	T	0.029121	0.20940	T	0.0182365	0.54142	T	-0.211581	0.53544	T	0.773373972595831	0.44643	D	0.905609	0.66735	D	0.31680292	0.54368	0.32347426	0.58278	0.31680292	0.54368	0.32347426	0.58278	-3.539	0.16982	T	.	.	0.818	0.78123	P	.	.	4.478056	0.69836	25.4	0.99555783147102239	0.71459	0.99520	0.97008	D	AEFBI	0.914069	0.87694	D	0.64078346897624	0.75774	6.365655	0.674046922022807	0.80414	7.293257	0.999999999998378	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.591603	0.36755	0	.	.	5.6	5.6	0.84997	8.350000	0.89972	11.235000	0.90242	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	15.758	0.77820	367	0.84523	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2061.33	33	chr5	138386329	.	A	C	2061.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.295;DP=894;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.06;ReadPosRankSum=1.45;SOR=0.661	GT:AD:DP:GQ:PL	0/1:118,87:205:99:2075,0,3087	18	0	1	0
chr5	139848493	139848493	T	0	exonic	NRG2	.	.	.	.	438	849	203	25	7	260	0.129677	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	153.63	7	chr5	139848493	.	T	*	153.63	.	AC=3;AF=0.1;AN=30;BaseQRankSum=1.99;DP=329;ExcessHet=1.4774;FS=1.101;InbreedingCoeff=-0.1876;MLEAC=4;MLEAF=0.133;MQ=60;MQRankSum=0;QD=2.65;ReadPosRankSum=-0.705;SOR=0.446	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:4,5:9:63:.:.:187,0,63:.	12	0	3	4
chr5	141184757	141184757	C	T	exonic	PCDHB16	.	nonsynonymous SNV	PCDHB16:NM_020957:exon1:c.C2198T:p.P733L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.224	0.027758078761	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.70582	D	.	.	.	.	.	.	0.004300	0.33902	N	0.000000	0.999885	0.50402	D	.	.	.	.	.	.	.	.	.	0.361	0.40264	-0.1395	0.79177	T	0.346	0.71099	T	10	0.32060713	0.49434	T	0.027758	0.50530	D	.	.	0.373	0.38503	0.546736107678	0.54328	0.2587576136262513	0.25789	.	.	0.745405673981	0.73768	T	.	.	.	0.0210581	0.54523	T	-0.207528	0.53932	T	0.96295565366745	0.66517	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.16929	B	.	.	2.062874	0.26232	17.04	0.99783757553757257	0.87043	0.66574	0.33126	D	AEFDBI	0.323515	0.42569	N	0.115610886318392	0.47191	2.948278	-0.107119931213176	0.35103	2.026872	0.998218399902114	0.36589	0.696267	0.57585	0	0.547309	0.14657	0	0.691665	0.62940	0	0.613276	0.41899	0	.	.	4.08	4.08	0.46880	2.612000	0.46007	.	.	0.465000	0.21702	0.113000	0.23048	0.000000	0.08366	0.005000	0.06747	0.1704:0.8296:0.0:0.0	12.271	0.54021	656	0.62345	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3384.33	46	chr5	141184757	.	C	T	3384.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.444;DP=1085;ExcessHet=0;FS=5.437;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.99;MQRankSum=0;QD=14.59;ReadPosRankSum=0.161;SOR=0.433	GT:AD:DP:GQ:PL	0/1:104,128:232:99:3398,0,2711	18	0	1	0
chr5	141303079	141303079	C	G	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.G787C:p.V263L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.00909780768334	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.611e-06	0.0012	9.648e-06	5.557e-06	9.117e-06	4.08e-06	2.99e-06	4.61e-06	3.36e-06	0	0	3.841e-05	0	0	0	9.117e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.865	0.02639	T	0.669	0.06325	T	0.0	0.02946	B	0.001	0.04355	B	0.940851	0.07593	N	1.028430	0.99999	0.08975	N	-1.395	0.00601	N	-1.1	0.77336	T	0.91	0.01595	N	0.015	0.00181	-1.0189	0.24074	T	0.099	0.36957	T	10	0.04655108	0.03861	T	0.009098	0.23941	T	0.146	0.38789	0.353	0.35246	0.307966526162	0.30417	0.15140888837097558	0.15062	0.179086514007	0.20148	0.295074403286	0.09668	T	0.158211	0.50113	T	-0.262078	0.12658	T	-0.614233	0.11644	T	0.0472256252312583	0.05005	T	0.090191	0.00668	T	0.05519885	0.10696	0.03909303	0.03923	0.05519885	0.10696	0.03909303	0.03923	-0.632	0.00670	T	.	.	0.081	0.08129	B	.	.	0.911050	0.12853	9.367	0.29972271365944797	0.01616	0.36561	0.25561	N	AEFDBI	0.079883	0.16143	N	-1.27563492994376	0.03971	0.1783734	-1.17336112797431	0.06358	0.3057852	0.0027045709993126	0.09647	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.79	-1.96	0.07113	0.290000	0.18731	.	.	-0.219000	0.08017	0.857000	0.30561	0.000000	0.08366	0.938000	0.47775	0.1892:0.2274:0.2747:0.3086	0.421	0.00425	508	0.75398	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4706	14014.1	269	chr5	141303079	.	C	G	14014.1	.	AC=16;AF=0.471;AN=34;BaseQRankSum=-5.32;DP=3969;ExcessHet=25.4433;FS=253.579;InbreedingCoeff=-0.8095;MLEAC=16;MLEAF=0.471;MQ=60;MQRankSum=0;QD=4.49;ReadPosRankSum=1.54;SOR=13.726	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:141,47:198:99:.:.:253,0,4576:.	1	0	16	2
chr5	141303081	141303081	A	G	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.T785C:p.I262T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304	0.0473896448522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.057e-05	0.0052	9.083e-05	7.061e-05	9.408e-05	6.666e-05	6.17e-05	7.637e-05	7.056e-05	7.663e-05	2.352e-05	9.167e-05	0	0	0	9.408e-05	0.0001	3.753e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.012	0.63918	D	0.031	0.20130	B	0.072	0.28043	B	0.002026	0.37411	N	0.228449	0.664955	0.33087	D	2.495	0.72670	M	-1.43	0.80730	T	-3.37	0.66665	D	0.15	0.15328	-0.2969	0.75071	T	0.436	0.77580	T	10	0.32646608	0.49943	T	0.04739	0.62897	D	0.304	0.62510	0.714	0.84962	0.796736975761	0.79484	0.3777484127299112	0.37689	0.256540601776	0.28227	0.559880197048	0.47250	T	0.479583	0.80893	T	-0.0449841	0.45207	T	-0.302393	0.44473	T	0.91609662771225	0.57338	D	0.873613	0.58243	D	0.3416271	0.56408	0.3380717	0.59590	0.3416271	0.56408	0.3380717	0.59589	-5.782	0.44417	T	.	.	0.170	0.37388	B	.	.	3.362138	0.46425	22.3	0.97252123840185223	0.33047	0.90378	0.51506	D	AEFDBI	0.134760	0.25488	N	-0.253584900046592	0.30961	1.73137	-0.254588989580657	0.29613	1.660522	0.0034441891907943	0.10119	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.79	1.42	0.21524	2.856000	0.48040	.	.	0.751000	0.87719	0.966000	0.33990	0.265000	0.24010	0.967000	0.53440	0.789:0.0:0.211:0.0	6.656	0.22177	508	0.75398	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4737	19266.3	284	chr5	141303081	.	A	G	19266.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-3.62;DP=4066;ExcessHet=38.2876;FS=254.572;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=5.08;ReadPosRankSum=1.37;SOR=14.095	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:136,66:202:99:.:.:1011,0,3228:.	1	0	18	0
chr5	141346011	141346011	C	G	exonic	PCDHGA3	.	nonsynonymous SNV	PCDHGA3:NM_018916:exon1:c.C1978G:p.L660V,PCDHGA3:NM_032011:exon1:c.C1978G:p.L660V	.	12	1502	8	0	0	8	0.00265604	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.0112362487732	.	0.000399361	0.0020	0.0005	0.0011	0.0008	0.0010	0.0030	0.0012	0.0005	0.0001921	5	26028	rs201663850	0.0016	0.0055	0.0016	0.0015	0.0019	0.0015	0.0015	0.0018	0.0018	0.0003	0.0004	0.0005	0.0006	0.0001	0.0002	0.0019	0.0010	0.0002	0.0001	0.0002	0.0001	0.0002	0.0004	8.664e-05	7.256e-05	0.0001	7.898e-05	0	0	0.0003	0	0.0004	0	0	0.0002	0	0.0004	0.368	0.11623	T	0.415	0.14326	T	0.025	0.20130	B	0.108	0.35463	B	0.249960	0.15531	U	0.341744	1	0.81001	D	0.675	0.16386	N	0.55	0.54728	T	-1.78	0.42001	N	0.132	0.14622	-1.0205	0.23551	T	0.093	0.35336	T	10	0.017173082	0.00365	T	0.011236	0.28661	T	0.081	0.23632	.	.	0.626812710122	0.62377	0.48724616299732404	0.48644	0.72637774397	0.62510	.	.	.	0.006932	0.06354	T	-0.234225	0.16093	T	-0.574224	0.15064	T	0.0163868849613396	0.00406	T	0.738226	0.39208	T	0.10906483	0.25786	0.10144965	0.24287	0.10906483	0.25786	0.10144965	0.24286	-4.465	0.30428	T	.	.	0.074	0.07507	B	.;.	.;.	1.436983	0.18559	13.80	0.91535529950151895	0.20812	0.17229	0.19746	N	AEFBI	0.093313	0.18882	N	-0.478640912924134	0.22781	1.21889	-0.321958282631181	0.27391	1.519538	0.00585000478085699	0.11059	0.516011	0.20929	0	0.588066	0.40923	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	5.12	4.19	0.48645	-0.303000	0.08249	.	.	0.578000	0.29377	0.000000	0.06391	0.431000	0.24855	0.331000	0.25224	0.1209:0.6637:0.2154:0.0	10.097	0.41655	725	0.54935	.;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000529	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1530.33	33	chr5	141346011	.	C	G	1530.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.57;DP=1168;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=42.87;MQRankSum=-1.077;QD=13.19;ReadPosRankSum=-0.215;SOR=0.69	GT:AD:DP:GQ:PL	0/1:57,59:116:99:1544,0,1571	18	0	1	0
chr5	141389331	141389331	G	A	exonic	PCDHGB4	.	nonsynonymous SNV	PCDHGB4:NM_003736:exon1:c.G1447A:p.G483S,PCDHGB4:NM_032098:exon1:c.G1447A:p.G483S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	0.0175540045875	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1212558688	1.026e-05	1.026e-05	6.807e-06	1.375e-05	0.0002	6.16e-06	4.89e-06	7.31e-06	5.72e-06	0	0	0	0	0	0.0002	1.259e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.34982	T	0.069	0.43913	T	1.0	0.90584	D	0.991	0.79672	D	.	.	.	.	1	0.81001	D	1.685	0.43254	L	0.79	0.49068	T	-3.78	0.71519	D	0.142	0.25253	-0.9265	0.44645	T	0.213	0.57361	T	9	0.65562505	0.69856	D	0.017554	0.39293	T	0.239	0.54358	0.807	0.92442	0.576013683475	0.57270	0.35648236882063733	0.35562	.	.	.	.	.	0.193307	0.54873	T	-0.0840699	0.39049	T	-0.358537	0.38221	T	0.946275055408478	0.62435	D	0.845515	0.52437	T	0.16097675	0.36075	0.16435376	0.38077	0.16097675	0.36074	0.16435376	0.38076	-7.627	0.59520	D	.	.	0.116	0.35331	B	.;.	.;.	3.411775	0.47334	22.4	0.99771749045697622	0.86003	0.79141	0.39161	D	AEFBI	0.608980	0.59835	D	0.0561984436309451	0.44428	2.717048	-0.0953019557487298	0.35584	2.060442	0.996747323893416	0.34974	0.676563	0.55306	0	0.588066	0.40923	0	0.667671	0.60360	0	0.600526	0.37237	0	.	.	5.18	3.27	0.36580	3.330000	0.51782	.	.	0.590000	0.31872	0.508000	0.27017	0.683000	0.26131	0.021000	0.11733	0.0749:0.0:0.7843:0.1408	9.621	0.38883	754	0.51307	.;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	.	.	.	.	.	.	.	.	0.02632	2993.33	34	chr5	141389331	.	G	A	2993.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.7;DP=1083;ExcessHet=0;FS=1.609;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.19;ReadPosRankSum=2.14;SOR=0.578	GT:AD:DP:GQ:PL	0/1:113,114:227:99:3007,0,2622	18	0	1	0
chr5	141395182	141395182	C	T	exonic	PCDHGA8	.	nonsynonymous SNV	PCDHGA8:NM_014004:exon1:c.C2369T:p.S790F,PCDHGA8:NM_032088:exon1:c.C2369T:p.S790F	.	191	1319	12	0	0	12	0.0045283	.	.	.	3575415	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.140	0.00890473528546	.	0.000199681	0.0001	0	0	0	0	9.011e-05	0.0011	0.0007	0.0001423	22	154602	rs143509166	8.756e-05	8.756e-05	8.712e-05	8.801e-05	0.0017	7.488e-05	7.035e-05	0.0009	0.0007	5.974e-05	0	0	0	1.872e-05	0.0017	5.036e-05	0.0003	0.0005	8.535e-05	8.53e-05	6.424e-05	0.0001	0.0002	4.953e-05	3.96e-05	9.048e-05	7.012e-05	0	0	0	0	0	9.429e-05	0.0034	0.0002	0	0	0.234	0.18061	T	0.133	0.35082	T	0.0	0.02946	B	0.005	0.11217	B	.	.	.	.	1	0.81001	D	0.48	0.13178	N	0.81	0.48460	T	-2.05	0.47008	N	0.142	0.36043	-1.0392	0.17556	T	0.072	0.29259	T	9	0.028700948	0.01000	T	0.008905	0.23463	T	0.140	0.37593	.	.	0.495172024023	0.49151	0.11320334284700659	0.11248	.	.	.	.	.	0.035685	0.23816	T	-0.426339	0.01560	T	-0.500751	0.22271	T	0.0482627972960472	0.05191	T	0.255674	0.03967	T	0.10975513	0.25946	0.14769743	0.34942	0.10975513	0.25946	0.14769743	0.34941	-6.306	0.48770	T	.	.	0.094	0.14523	B	.;.	.;.	2.488805	0.32106	18.94	0.76062084114784401	0.11318	0.73992	0.36191	D	AEFBI	0.545006	0.55970	D	-0.717891172023897	0.15519	0.7828081	-0.670170512121005	0.17708	0.9427949	0.998262376644592	0.36664	0.549168	0.22868	0	0.547309	0.14657	0	0.602189	0.34648	0	0.616125	0.45549	0	.	.	4.5	3.63	0.40741	0.932000	0.28484	.	.	0.520000	0.23804	0.000000	0.06391	0.061000	0.22037	0.573000	0.30723	0.0:0.9107:0.0:0.0893	11.412	0.49173	804	0.43891	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.000000	0.000000	0.000000	0.008621	0.006098	0.003788	0.02632	2115.33	43	chr5	141395182	.	C	T	2115.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.263;DP=913;ExcessHet=0;FS=2.748;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=0.903;SOR=0.505	GT:AD:DP:GQ:PL	0/1:88,82:170:99:2129,0,2388	18	0	1	0
chr5	141400463	141400463	A	G	exonic	PCDHGB5	.	nonsynonymous SNV	PCDHGB5:NM_018925:exon1:c.A2336G:p.D779G,PCDHGB5:NM_032099:exon1:c.A2336G:p.D779G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.065e-06	5.274e-05	1.371e-06	2.765e-06	2.718e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.718e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.44302	T	0.009	0.15093	B	0.029	0.21540	B	.	.	.	.	1	0.81001	D	1.51	0.38214	L	.	.	.	.	.	.	0.241	0.34659	.	.	.	.	.	.	.	0.20647642	0.36910	T	.	.	.	.	.	.	.	0.567858160113	0.56450	0.27775437007942005	0.27688	.	.	.	.	.	0.07356	0.34727	T	0.118978	0.66270	D	-0.0668731	0.65849	T	.	.	.	0.475152	0.14192	T	0.18996084	0.40560	0.40470845	0.64891	0.18996084	0.40560	0.40470845	0.64891	-4.16	0.26766	T	.	.	0.089	0.12323	B	.;.	.;.	3.615017	0.51130	23.0	0.70790902653605781	0.09412	0.84947	0.44044	D	AEFDBHCI	.	.	.	.	.	.	.	.	.	0.999600704005591	0.40866	0.090766	0.02384	0	0.097471	0.02872	0	0.129117	0.03641	0	0.023427	0.00073	3	0.343073	0.36021	5.25	5.25	0.73169	2.964000	0.48885	.	.	0.751000	0.87719	1.000000	0.71638	0.999000	0.35428	0.831000	0.39176	0.9146:0.0:0.0854:0.0	9.287	0.36925	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2895	2841.21	42	chr5	141400463	.	A	G	2841.21	.	AC=11;AF=0.289;AN=38;BaseQRankSum=-7.16;DP=3945;ExcessHet=8.9063;FS=248.932;InbreedingCoeff=-0.4075;MLEAC=11;MLEAF=0.289;MQ=59.99;MQRankSum=0;QD=0.91;ReadPosRankSum=0.68;SOR=13.863	GT:AD:DP:GQ:PL	0/1:184,89:273:99:400,0,3588	8	0	11	0
chr5	146286009	146286009	G	C	exonic	RBM27	.	nonsynonymous SNV	RBM27:NM_018989:exon21:c.G3162C:p.E1054D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.401	0.126694259352	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.984	0.60733	D	0.935	0.67021	D	0.000001	0.62929	D	0.000000	0.99994	0.51968	D	2.57	0.75187	M	-1.2	0.78537	T	-2.43	0.53258	N	0.604	0.62188	-0.0768	0.80625	T	0.530	0.82549	D	10	0.56155825	0.64816	D	0.126694	0.80839	D	0.401	0.71479	0.107	0.01868	0.710301815084	0.70777	0.0974803881878346	0.09679	0.986908435057	0.73940	0.789129674435	0.80310	T	0.342279	0.71108	T	0.0376074	0.56730	T	-0.183756	0.56173	T	0.978155314922333	0.72188	D	0.924008	0.72230	D	0.5375406	0.69258	0.40438652	0.64867	0.5375406	0.69260	0.40438652	0.64868	-4.2	0.26751	T	.	.	0.635	0.70325	P	.	.	3.296734	0.45235	22.1	0.99785765923896841	0.87219	0.89146	0.49438	D	AEFGBI	0.237189	0.35951	N	0.309027367486255	0.56610	3.826061	0.216695905855177	0.50773	3.265896	0.999903693258869	0.45458	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.32	0.414	0.15624	1.641000	0.36812	2.352000	0.32320	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.6152:0.0:0.3848:0.0	8.777	0.33924	839	0.37672	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2059	536.21	79	chr5	146286009	.	G	C	536.21	.	AC=7;AF=0.206;AN=34;BaseQRankSum=-2.632;DP=1601;ExcessHet=2.9153;FS=120.644;InbreedingCoeff=-0.2893;MLEAC=8;MLEAF=0.235;MQ=60;MQRankSum=0;QD=0.9;ReadPosRankSum=0.514;SOR=10.646	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:83,20:103:77:.:.:77,0,1607:.	10	0	7	2
chr5	149621740	149621740	G	A	exonic	ARHGEF37	.	nonsynonymous SNV	ARHGEF37:NM_001001669:exon9:c.G1013A:p.R338Q	.	419	1033	67	3	0	73	0.0341281	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.287	.	0.0017	0.00239617	0.0035	0.0005	0.0013	0.0002	0.0002	0.0026	0.0035	0.0150	0.0030659	474	154602	rs139526604	0.0020	0.0020	0.0015	0.0025	0.0186	0.0019	0.0019	0.0158	0.0147	0.0004	0.0010	0.0044	0.0002	0.0002	0.0186	0.0011	0.0026	0.0137	0.0015	0.0015	0.0013	0.0018	0.0097	0.0014	0.0013	0.0075	0.0067	0.0003	0	0.0019	0.0038	0.0002	0.0004	0.0034	0.0018	0.0028	0.0097	0.028	0.46129	D	0.039	0.51112	D	0.867	0.47667	P	0.4	0.44481	B	0.000024	0.55875	N	0.111842	1	0.81001	D	2.36	0.67893	M	-0.06	0.63568	T	-2.91	0.60982	D	0.196	0.21580	-0.5533	0.66661	T	0.282	0.65359	T	10	0.008068293	0.00183	T	.	.	.	0.287	0.60574	.	.	0.275215494804	0.27121	0.5262534306056779	0.52549	0.307136892763	0.33015	0.341207176447	0.16619	T	0.057572	0.30604	T	-0.238972	0.15480	T	-0.105012	0.63007	T	0.0394868305183321	0.03597	T	0.805919	0.45429	T	0.30385897	0.53248	0.41543442	0.65658	0.30385897	0.53248	0.41543442	0.65658	-2.71	0.07387	T	.	.	0.08	0.07793	B	.	.	3.930896	0.57454	23.9	0.99923209850801342	0.98917	0.98856	0.87762	D	AEFBI	0.633477	0.61371	D	0.47385892718642	0.65568	4.838959	0.506868326422859	0.68453	5.22189	0.999999999995626	0.74766	0.372202	0.05800	0	0.547309	0.14657	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	6.17	5.31	0.75063	6.854000	0.75239	7.439000	0.58857	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.881000	0.42162	0.0672:0.0:0.9328:0.0	15.280	0.73478	795	0.45444	BAR domain|BAR domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.015625	0.000000	0.008152	0.026316	0.000000	0.017241	0.018293	0.030303	0.1053	3729.43	42	chr5	149621740	.	G	A	3729.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=2.22;DP=873;ExcessHet=0.7564;FS=0;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=13.56;ReadPosRankSum=0.199;SOR=0.668	GT:AD:DP:GQ:PL	0/1:34,43:77:99:1213,0,783	15	0	4	0
chr5	151507207	151507207	G	C	exonic	FAT2	.	nonsynonymous SNV	FAT2:NM_001447:exon23:c.C12464G:p.S4155C	.	427	1073	21	1	0	23	0.010604	.	.	.	721325	FAT2-related_disorder|Spinocerebellar_ataxia_45|not_specified|not_provided	.|MONDO:MONDO:0033480,MedGen:C4540400,OMIM:617769,Orphanet:589527|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.275	0.0583599827964	0.0003	.	0.0010	0	0.0005	0	0	0.0009	0	0.0035	0.0007956	123	154602	rs145466001	0.0005	0.0005	0.0004	0.0006	0.0036	0.0004	0.0004	0.0024	0.0022	2.989e-05	0.0006	0.0057	0	1.877e-05	0.0036	0.0002	0.0008	0.0026	0.0004	0.0004	0.0004	0.0003	0.0014	0.0003	0.0003	0.0007	0.0005	2.405e-05	0	0.0001	0.0058	0	0	0.0068	0.0003	0.0024	0.0014	0.407	0.10245	T	0.035	0.52389	D	0.979	0.59044	D	0.635	0.51908	P	0.006493	0.31997	N	0.220530	0.999862	0.50061	D	1.365	0.34158	L	-1.03	0.76430	T	-1.49	0.36385	N	0.485	0.51940	-0.2370	0.76704	T	0.453	0.78656	T	10	0.009769082	0.00220	T	0.05836	0.67292	D	0.334	0.65620	.	.	0.885439632602	0.88431	0.3802229436836575	0.37937	0.502997777248	0.48648	0.476963639259	0.35639	T	0.094933	0.39518	T	-0.302035	0.08469	T	-0.210307	0.53666	T	0.108110176004173	0.13227	T	0.756024	0.37907	T	0.14777388	0.33767	0.086507246	0.20045	0.14777388	0.33766	0.086507246	0.20045	-5.171	0.38646	T	.	.	0.097	0.15966	B	.	.	3.465181	0.48318	22.6	0.87594490723490837	0.17340	0.96518	0.69540	D	AEFDBCI	0.627449	0.60990	D	0.252113336460178	0.53742	3.541934	0.16496362234461	0.47940	3.016867	0.999999996729769	0.74766	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	4.75	4.75	0.59954	7.094000	0.76602	6.571000	0.55968	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.017000	0.10941	0.0:0.0:1.0:0.0	16.133	0.81269	892	0.26670	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.000000	0.008152	0.000000	0.000000	0.000000	0.000000	0.003788	0.07895	3840.79	101	chr5	151507207	.	G	C	3840.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.408;DP=1568;ExcessHet=0.3672;FS=0.446;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=13.48;ReadPosRankSum=1.67;SOR=0.639	GT:AD:DP:GQ:PL	0/1:51,46:97:99:1148,0,1286	16	0	3	0
chr5	154834880	154834880	G	C	exonic	FAXDC2	.	nonsynonymous SNV	FAXDC2:NM_032385:exon3:c.C103G:p.L35V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.0225774624919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.51e-05	8.073e-05	1.775e-05	1.243e-05	5.991e-05	9.89e-06	8.44e-06	1.015e-05	8.37e-06	5.991e-05	0	0	0	0	0	1.624e-05	3.321e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	0.22660	T	0.192	0.28300	T	0.741	0.42992	P	0.178	0.35748	B	0.000062	0.52346	D	0.127254	0.999577	0.47641	D	2.33	0.66821	M	0.11	0.61208	T	-1.43	0.42575	N	0.476	0.55280	-0.7898	0.55741	T	0.177	0.52272	T	10	0.3608216	0.52717	T	0.022577	0.45482	T	0.128	0.35103	0.368	0.37687	0.50685403127	0.50322	0.5472392752767269	0.54649	0.565306047963	0.52874	0.427203059196	0.28826	T	0.006447	0.05881	T	-0.0350922	0.46673	T	-0.288184	0.45962	T	0.975553870201111	0.70985	D	0.824718	0.55237	T	0.1653164	0.36795	0.16677296	0.38511	0.1653164	0.36795	0.16677296	0.38510	-4.327	0.28554	T	.	.	0.122	0.45149	B	.;.;.;.;.	.;.;.;.;.	3.205176	0.43602	21.8	0.99783212881991934	0.86955	0.93639	0.58770	D	AEFDGBHCI	0.839166	0.75660	D	0.282525933287588	0.55260	3.690427	0.346314316601126	0.58285	3.998306	0.999999999999752	0.74766	0.536635	0.22144	0	0.546412	0.12157	0	0.489635	0.07774	0	0.322989	0.05693	1	.	.	6.04	5.18	0.71140	4.974000	0.63486	8.428000	0.77165	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.933000	0.47100	0.0681:0.0:0.9319:0.0	15.162	0.72472	879	0.29470	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3889	2926.77	122	chr5	154834880	.	G	C	2926.77	.	AC=14;AF=0.389;AN=36;BaseQRankSum=-3.509;DP=2450;ExcessHet=17.0548;FS=265.035;InbreedingCoeff=-0.631;MLEAC=15;MLEAF=0.417;MQ=60;MQRankSum=0;QD=1.67;ReadPosRankSum=1.04;SOR=12.969	GT:AD:DP:GQ:PL	0/1:85,36:129:99:192,0,1425	4	0	14	1
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	.	.	.	.	.	.	.	.	0.02941	32.14	41	chr5	156851083	.	T	C	32.14	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-3.775;DP=1065;ExcessHet=0;FS=58.52;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.029;MQ=57.23;MQRankSum=-2.76;QD=0.36;ReadPosRankSum=-0.866;SOR=5.279	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,13:90:45:0|1:156851079_G_C:45,0,2953:156851079	16	0	1	2
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	.	.	.	.	.	.	.	.	0.02632	34.33	41	chr5	156851084	.	G	A	34.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.841;DP=948;ExcessHet=0;FS=57.842;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=57.17;MQRankSum=-2.731;QD=0.39;ReadPosRankSum=-0.947;SOR=5.279	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:76,13:89:48:0|1:156851079_G_C:48,0,2913:156851079	18	0	1	0
chr5	157163510	157163510	G	A	exonic	FAM71B	.	nonsynonymous SNV	FAM71B:NM_130899:exon2:c.C755T:p.T252M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.0016791058227	7.7e-05	.	5.767e-05	0	8.639e-05	0	0	8.993e-05	0	0	7.12e-05	11	154602	rs143827589	5.199e-05	5.199e-05	6.125e-05	4.263e-05	0.0001	4.258e-05	3.888e-05	4.699e-05	4.281e-05	2.987e-05	0.0001	0	2.519e-05	0	0	5.845e-05	4.967e-05	1.159e-05	1.314e-05	2.627e-05	2.569e-05	0	0.0001	2.18e-06	8.2e-07	2.262e-05	9.08e-06	0	0	0.0001	0	0	0	0	0	0	0	0.248	0.17239	T	0.147	0.32783	T	0.048	0.22112	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	-0.205	0.04094	N	3.76	0.03892	T	-0.81	0.22294	N	0.044	0.01658	-0.9457	0.41698	T	0.008	0.02760	T	9	0.040735245	0.02668	T	0.001679	0.02779	T	0.040	0.10527	.	.	0.0297737177859	0.01360	0.11617179949384838	0.11545	0.149189735459	0.16824	0.291863381863	0.09194	T	0.004297	0.03709	T	-0.593068	0.00161	T	-0.863976	0.00801	T	0.0186612033992839	0.00580	T	0.443356	0.12326	T	0.01857649	0.00380	0.030198496	0.01446	0.01857649	0.00379	0.030198496	0.01446	-5.304	0.39983	T	.	.	0.096	0.15341	B	.	.	-1.154317	0.00579	0.014	0.71858931119084879	0.09773	0.00580	0.02616	N	AEFBI	0.023156	0.01253	N	-1.96531553060349	0.00251	0.01075221	-2.02859976686856	0.00266	0.01174887	0.18245918886492	0.17890	0.500041	0.20204	0	0.547309	0.14657	0	0.624306	0.44879	0	0.564101	0.26826	0	.	.	3.66	-4.24	0.03519	-3.453000	0.00518	-2.540000	0.03631	-0.208000	0.08445	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4434:0.1204:0.4362:0.0	7.100	0.24510	550	0.72197	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	888.33	45	chr5	157163510	.	G	A	888.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.842;DP=747;ExcessHet=0;FS=2.195;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.88;ReadPosRankSum=-0.914;SOR=0.387	GT:AD:DP:GQ:PL	0/1:28,36:64:99:902,0,750	18	0	1	0
chr5	159161427	159161427	T	C	exonic	RNF145	.	nonsynonymous SNV	RNF145:NM_001199380:exon10:c.A1555G:p.I519V,RNF145:NM_001199381:exon10:c.A1516G:p.I506V,RNF145:NM_001199382:exon10:c.A1507G:p.I503V,RNF145:NM_001199383:exon10:c.A1465G:p.I489V,RNF145:NM_144726:exon10:c.A1549G:p.I517V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.348	0.0321084093921	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.689	0.53172	T	1.0	0.01155	T	0.069	0.26116	B	0.057	0.30390	B	0.000000	0.84330	D	0.000000	1	0.81001	D	-0.6	0.02229	N	-1.04	0.78427	T	-0.02	0.19085	N	0.487	0.54671	-0.7862	0.55950	T	0.155	0.48687	T	10	0.22028938	0.38722	T	0.032108	0.54021	D	0.348	0.66956	0.381	0.39807	0.848737276254	0.84728	0.5429635205572487	0.54221	1.5713921237	0.88187	0.809239268303	0.83376	D	0.025021	0.18789	T	0.0879092	0.62953	D	-0.111501	0.62491	T	0.599808037281036	0.36392	D	0.910909	0.68443	D	0.08185151	0.18826	0.14571664	0.34550	0.08185151	0.18826	0.14571664	0.34549	-4.068	0.29557	T	.	.	0.428	0.63300	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.659358	0.34646	19.68	0.97983499804003948	0.37341	0.94498	0.61359	D	AEFDBHCI	0.933662	0.92588	D	-0.253708838070544	0.30955	1.731042	0.0519839670437108	0.42167	2.54587	0.999999999999995	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.693117	0.63056	0	0.714379	0.83352	0	.	.	5.78	5.78	0.91418	7.908000	0.86831	7.797000	0.69042	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	16.109	0.81055	893	0.26510	.;TRC8 N-terminal domain;TRC8 N-terminal domain;TRC8 N-terminal domain;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	104.67	91	chr5	159161427	.	T	C	104.67	.	AC=3;AF=0.083;AN=36;BaseQRankSum=-2.939;DP=1225;ExcessHet=0.3672;FS=123.785;InbreedingCoeff=-0.0973;MLEAC=3;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.35;ReadPosRankSum=1.61;SOR=9.022	GT:AD:DP:GQ:PL	0/1:77,21:98:8:8,0,1686	15	0	3	1
chr5	176371743	176371743	A	G	exonic	ARL10	.	nonsynonymous SNV	ARL10:NM_173664:exon4:c.A583G:p.M195V	.	424	1086	10	2	0	14	0.00640439	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	.	0.0005	0.00139776	0.0020	0	0.0010	0	0	0.0010	0	0.0104	0.0016947	262	154602	rs143925981	0.0010	0.0010	0.0008	0.0013	0.0094	0.0010	0.0010	0.0089	0.0087	0.0001	0.0006	0.0070	5.038e-05	0	0.0028	0.0003	0.0016	0.0094	0.0008	0.0008	0.0007	0.0009	0.0085	0.0007	0.0007	0.0064	0.0057	0.0001	0	0.0010	0.0055	0	0	0.0068	0.0006	0.0009	0.0085	0.75	0.03587	T	0.73	0.05165	T	0.0	0.02946	B	0.001	0.04355	B	0.003856	0.00988	N	2.793670	0.999914	0.19599	N	-2.11	0.00152	N	0.05	0.61923	T	0.94	0.01529	N	0.089	0.06720	-0.9479	0.41330	T	0.057	0.23866	T	10	0.0022372305	0.00033	T	.	.	.	0.050	0.13987	.	.	0.455081427078	0.45129	0.4481407354553157	0.44732	0.464258406265	0.45902	0.230897173285	0.02035	T	0.01069	0.09625	T	-0.588691	0.00171	T	-0.610429	0.11950	T	0.00481901478009985	0.00052	T	0.550145	0.18957	T	0.039028455	0.05311	0.042416707	0.05048	0.039028455	0.05311	0.042416707	0.05048	0.068	0.00326	T	.	.	0.054	0.00334	B	.	.	-0.456283	0.02011	0.179	0.63170296156131933	0.07153	0.01677	0.05358	N	AEFDBI	0.019351	0.00664	N	-1.50154929814924	0.01840	0.08067487	-1.36416195918019	0.03642	0.1703006	0.999439475591971	0.39683	0.651	0.46895	0	0.708844	0.79440	0	0.566861	0.19136	0	0.635551	0.53088	0	.	.	5.39	-0.71	0.10668	-0.014000	0.12594	-0.554000	0.08512	-0.208000	0.08445	0.000000	0.06391	0.000000	0.08366	0.895000	0.43227	0.4842:0.1296:0.3862:0.0	6.211	0.19843	474	0.77851	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009567	0.010101	0.005435	0.002924	0.000000	0.008621	0.021341	0.015152	0.02632	1326.33	35	chr5	176371743	.	A	G	1326.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.68;DP=756;ExcessHet=0;FS=1.518;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.43;ReadPosRankSum=0.429;SOR=0.847	GT:AD:DP:GQ:PL	0/1:68,48:116:99:1340,0,1835	18	0	1	0
chr5	177093252	177093252	G	A	exonic	FGFR4	.	nonsynonymous SNV	FGFR4:NM_001354984:exon9:c.G1172A:p.R391Q,FGFR4:NM_002011:exon9:c.G1172A:p.R391Q,FGFR4:NM_213647:exon9:c.G1172A:p.R391Q	.	405	1110	7	0	0	7	0.00314324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.447	0.0529220344673	7.7e-05	0.000599042	0.0002	0.0001	0.0006	0.0001	0	9.285e-05	0.0011	0.0004	0.0001682	26	154602	rs375466821	0.0001	0.0001	0.0001	0.0002	0.0012	0.0001	0.0001	0.0006	0.0004	8.965e-05	0.0004	3.836e-05	5.041e-05	0	0.0012	0.0001	0.0002	0.0004	0.0001	0.0001	0.0001	0.0001	0.0004	8.661e-05	7.254e-05	0.0001	7.897e-05	4.813e-05	0	6.535e-05	0	0	0	0.0034	0.0002	0.0009	0.0004	0.074	0.34621	T	0.069	0.43913	T	0.76	0.43524	P	0.166	0.35067	B	0.055472	0.22640	N	0.479979	0.775233	0.81001	D	2.455	0.71248	M	-2.03	0.85613	D	-1.99	0.45949	N	0.229	0.28028	-0.1655	0.78537	T	0.509	0.81522	D	10	0.09614086	0.17224	T	0.052922	0.65265	D	0.447	0.74866	.	.	0.948364924225	0.94781	0.5821229167833188	0.58141	0.321114698213	0.34316	0.241012275219	0.02882	T	0.501971	0.82197	D	-0.208347	0.19612	T	-0.209092	0.53782	T	0.042851728225335	0.04211	T	0.725627	0.33984	T	0.07022649	0.15451	0.083599254	0.19169	0.07022649	0.15450	0.083599254	0.19169	-5.733	0.43986	T	.	.	0.091	0.16231	B	.;.	.;.	3.260227	0.44588	22.0	0.99807783336490952	0.89174	0.88904	0.49062	D	AEFDGBCI	0.513069	0.54102	D	-0.175226000415413	0.34167	1.947037	-0.244557527336828	0.29960	1.682778	0.996418766617969	0.34729	0.695654	0.57023	0	0.659912	0.62753	0	0.723109	0.80598	0	0.550183	0.17644	0	.	.	4.18	2.36	0.28258	4.787000	0.62125	4.215000	0.42557	-0.212000	0.08331	1.000000	0.71638	0.999000	0.35428	0.931000	0.46843	0.186:0.0:0.814:0.0	9.079	0.35699	835	0.38313	.;.	.	.	.	.	.	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	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.003788	0.02632	1123.33	36	chr5	177093252	.	G	A	1123.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.683;DP=787;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.82;ReadPosRankSum=0.234;SOR=0.669	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:49,46:95:99:1|0:177093242_G_A:1137,0,1876:177093242	18	0	1	0
chr6	7727061	7727063	GCC	-	exonic	BMP6	.	nonframeshift deletion	BMP6:NM_001718:exon1:c.106_108del:p.A39del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1281435575	1.333e-05	0.0004	9.064e-06	1.805e-05	4.496e-05	7.73e-06	6.05e-06	5.61e-06	4.09e-06	0	0	8.146e-05	4.496e-05	8.62e-05	0	1.11e-05	0	0	0	6.579e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	40.33	19	chr6	7727060	.	GGCC	G	40.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.904;DP=301;ExcessHet=0;FS=0;InbreedingCoeff=-0.0294;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=3.36;ReadPosRankSum=0.97;SOR=0.223	GT:AD:DP:GQ:PL	0/1:10,2:12:54:54,0,414	18	0	1	0
chr6	24145554	24145554	C	T	exonic	NRSN1	.	nonsynonymous SNV	NRSN1:NM_080723:exon4:c.C196T:p.L66F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.220	0.0253960966298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.013	0.63109	D	1.0	0.90584	D	0.989	0.78396	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.69	0.78713	M	2.04	0.39401	T	-1.57	0.50175	N	0.716	0.72120	-0.9366	0.43149	T	0.125	0.43008	T	10	0.44065765	0.58079	T	0.025396	0.48370	D	0.220	0.51569	0.202	0.11659	0.625481101073	0.62243	0.6214858075856532	0.62081	1.05154938784	0.76170	0.661980450153	0.61693	T	0.106732	0.41833	T	0.0952099	0.63771	D	-0.101014	0.63320	T	0.97040581703186	0.68937	D	0.857914	0.54791	D	0.46572846	0.65027	0.39292505	0.64025	0.46572846	0.65028	0.39292505	0.64025	-5.631	0.43075	T	.	.	0.162	0.37159	B	.;.;.	.;.;.	4.745988	0.76591	26.5	0.99895236271233467	0.96819	0.96227	0.68120	D	AEFBCI	0.831099	0.74969	D	0.760478614766467	0.83585	8.056313	0.721496033539898	0.84012	8.174695	0.999999999663906	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.46	5.46	0.80021	5.804000	0.68800	7.707000	0.66598	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:1.0:0.0:0.0	19.326	0.94248	842	0.36989	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3158	1943.2	34	chr6	24145554	.	C	T	1943.2	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-1.544;DP=1290;ExcessHet=11.1788;FS=190.289;InbreedingCoeff=-0.4869;MLEAC=11;MLEAF=0.289;MQ=60;MQRankSum=0;QD=2.69;ReadPosRankSum=-0.194;SOR=11.772	GT:AD:DP:GQ:PL	0/1:49,16:74:74:74,0,817	7	0	12	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	.	.	.	.	.	.	.	.	0.1	164.05	60	chr6	27310582	.	G	A	164.05	.	AC=3;AF=0.1;AN=30;BaseQRankSum=-3.088;DP=1407;ExcessHet=0.3672;FS=321.847;InbreedingCoeff=-0.157;MLEAC=4;MLEAF=0.133;MQ=60;MQRankSum=0;QD=0.51;ReadPosRankSum=-0.608;SOR=9.065	GT:AD:DP:GQ:PL	0/1:64,25:89:72:72,0,1233	12	0	3	4
chr6	31029828	31029828	A	0	exonic	MUC22	.	.	.	.	423	969	80	0	50	130	0.0396432	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	2971.99	539	chr6	31029828	.	A	*	2971.99	.	AC=3;AF=0.083;AN=36;BaseQRankSum=-1.683;DP=11989;ExcessHet=0.7564;FS=0.678;InbreedingCoeff=-0.1343;MLEAC=3;MLEAF=0.083;MQ=59.4;MQRankSum=-12.98;QD=0.84;ReadPosRankSum=-8.38;SOR=0.558	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:636,99:735:99:0|1:31029812_T_G:1558,0,26075:31029812	15	0	3	1
chr6	31029836	31029839	TGTA	0	exonic	MUC22	.	.	.	.	427	983	61	0	51	112	0.0300937	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05882	2348.25	539	chr6	31029836	.	TGTA	*	2348.25	.	AC=2;AF=0.059;AN=34;BaseQRankSum=-1.958;DP=11899;ExcessHet=0.3672;FS=1.435;InbreedingCoeff=-0.1176;MLEAC=2;MLEAF=0.059;MQ=59.42;MQRankSum=-14.25;QD=0.89;ReadPosRankSum=-9.982;SOR=0.567	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:636,99:735:99:0|1:31029812_T_G:1558,0,26075:31029812	15	0	2	2
chr6	31029847	31029847	T	0	exonic	MUC22	.	.	.	.	427	1042	49	0	4	53	0.0229723	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	858.99	539	chr6	31029847	.	T	*	858.99	.	AC=3;AF=0.083;AN=36;BaseQRankSum=-1.771;DP=11916;ExcessHet=0.7564;FS=0.71;InbreedingCoeff=-0.1343;MLEAC=3;MLEAF=0.083;MQ=59.4;MQRankSum=-17.12;QD=0.25;ReadPosRankSum=-10.45;SOR=0.58	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:654,81:735:99:0|1:31029812_T_G:1081,0,27197:31029812	15	0	3	1
chr6	31271120	31271120	C	G	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon3:c.G572C:p.W191S,HLA-C:NM_002117:exon3:c.G572C:p.W191S	.	0	1434	88	0	0	88	0.02977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.263	.	.	.	0.0305	0.0409	0.0235	0.0133	0.0139	0.0322	0.04	0.0377	0.0235055	3634	154602	rs150127748	3.447e-05	0.0007	3.541e-05	3.353e-05	0.0001	2.543e-05	2.22e-05	5.793e-05	3.72e-05	8.66e-05	0.0001	0	4.805e-05	0	0	3.358e-05	2.307e-05	0	0	0.0004	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.056	0.38407	T	0.235	0.24767	T	0.004	0.12183	B	0.039	0.23607	B	0.034101	0.01782	N	2.640200	0.999999	0.08975	N	.	.	.	9.23	0.00012	T	-8.99	0.98511	D	0.071	0.04426	-1.0547	0.13119	T	0.000	0.00039	T	10	0.017437935	0.00372	T	.	.	.	0.263	0.57612	.	.	.	.	0.47916892798528415	0.47836	0.827582985191	0.67484	0.422887742519	0.28234	T	0.088885	0.38255	T	-0.118559	0.33359	T	-0.408078	0.32447	T	0.055689136153455	0.06473	T	0.00846582	0.00040	T	.	.	.	.	.	.	.	.	-4.058	0.24668	T	.	.	0.164	0.38764	B	.;.;.	.;.;.	1.869959	0.23756	16.14	0.42989600505578496	0.03206	0.03967	0.09375	N	AEFGBHCI	0.128437	0.24621	N	-2.01232931330579	0.00199	0.008528513	-2.15168832890066	0.00144	0.006314187	0.999999987597125	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	2.71	-5.41	0.02442	0.536000	0.22838	.	.	-1.213000	0.01349	0.798000	0.29695	0.000000	0.08366	0.000000	0.00833	0.2407:0.1633:0.596:0.0	10.604	0.44576	934	0.15400	MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.039417	0.075758	0.046196	0.029126	0.000000	0.034483	0.039634	0.022727	0.02632	608.33	172	chr6	31271120	.	C	G	608.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.717;DP=2888;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=54.54;MQRankSum=-4.062;QD=3.6;ReadPosRankSum=2.31;SOR=0.661	GT:AD:DP:GQ:PL	0/1:143,26:169:99:622,0,4118	18	0	1	0
chr6	31355338	31355338	T	C	exonic	HLA-B	.	nonsynonymous SNV	HLA-B:NM_005514:exon4:c.A874G:p.K292E	.	1	1059	462	0	0	462	0.17907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	.	.	.	0.1873	0.2102	0.1521	0.2285	0.1750	0.1708	0.2005	0.2469	0.0006531	17	26028	rs41541515	1.925e-05	0.0003	1.916e-05	1.935e-05	6.078e-05	1.335e-05	1.149e-05	1.006e-05	3.76e-06	6.078e-05	0	0.0005	0	0	0	9.027e-06	3.34e-05	2.33e-05	6.22e-05	0.0011	8.537e-05	3.706e-05	7.636e-05	2.881e-05	2.058e-05	1.414e-05	6.92e-06	7.636e-05	0	0	0.0003	0	0.0001	0	5.327e-05	0	0	0.277	0.15665	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.026571	0.25897	N	0.181463	0.999999	0.08975	N	.	.	.	2.69	0.12268	T	1.44	0.00794	N	0.014	0.00160	-0.9487	0.41194	T	0.003	0.00800	T	10	0.0029622018	0.00048	T	.	.	.	0.023	0.04649	.	.	.	.	0.09070377229671633	0.09003	0.307519446834	0.33047	.	.	.	0.030329	0.21526	T	-0.267069	0.12086	T	-0.621403	0.11076	T	0.00635520461095454	0.00071	T	0.121988	0.02209	T	0.23476017	0.46301	0.11296048	0.27259	0.23476017	0.46301	0.11296048	0.27258	2.737	0.00027	T	.	.	0.051	0.01328	B	.;.;.;.	.;.;.;.	-0.115766	0.03549	0.681	0.33208941956949856	0.01966	0.00329	0.01719	N	AEFDBHCI	0.042199	0.06517	N	-1.61921237088875	0.01172	0.05092742	-1.59245928361148	0.01701	0.07728939	0.99999239206602	0.74766	0.634777	0.41761	0	0.672317	0.65289	0	0.643519	0.47002	0	0.530356	0.10902	0	.	.	3.16	-1.11	0.09336	-2.713000	0.00887	.	.	-1.064000	0.01611	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.5345:0.1577:0.3077	4.780	0.12569	934	0.15400	.;Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin-like domain|Immunoglobulin C1-set;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.220557	0.202020	0.191576	0.234234	0.150000	0.250000	0.253049	0.268939	0.1667	1648.66	177	chr6	31355338	.	T	C	1648.66	.	AC=6;AF=0.167;AN=36;BaseQRankSum=-1.578;DP=3023;ExcessHet=2.0135;FS=9.688;InbreedingCoeff=-0.2064;MLEAC=6;MLEAF=0.167;MQ=58.26;MQRankSum=-11.42;QD=1.61;ReadPosRankSum=0.042;SOR=1.418	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:153,15:168:99:0|1:31355338_T_C:169,0,6218:31355338	12	0	6	1
chr6	31355425	31355425	T	C	exonic	HLA-B	.	nonsynonymous SNV	HLA-B:NM_005514:exon4:c.A787G:p.R263G	.	0	927	595	0	0	595	0.242956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	.	.	.	0.2427	0.2221	0.2151	0.2593	0.1977	0.2427	0.2413	0.2835	3.84e-05	1	26028	rs41545916	6.978e-05	0.0017	7.287e-05	6.665e-05	0.0004	5.837e-05	5.445e-05	6.35e-05	2.683e-05	6.07e-05	6.798e-05	0.0015	0	0	0.0004	3.628e-05	0.0001	8.195e-05	0.0003	0.0048	0.0004	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0003	0	0.0003	0.0011	0.0003	0	0	0.0003	0.0007	0	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.04355	B	0.017476	0.27716	N	0.165679	0.986046	0.24654	N	.	.	.	4.34	0.02341	T	3.3	0.00105	N	0.051	0.02272	-1.0151	0.25304	T	0.000	0.00114	T	10	0.0015430152	0.00017	T	.	.	.	0.070	0.20419	.	.	.	.	0.3942460569328166	0.39339	0.283348990526	0.30779	.	.	.	0.019855	0.15737	T	-0.268638	0.11909	T	-0.623656	0.10901	T	0.00166754910760778	0.00017	T	0.446155	0.12501	T	0.3324303	0.55668	0.11348576	0.27388	0.3324303	0.55669	0.11348576	0.27388	2.773	0.00026	T	.	.	0.034	0.00010	B	.;.	.;.	0.246319	0.06261	2.715	0.81034162823799205	0.13487	0.00542	0.02495	N	AEFDBHCI	0.071522	0.14241	N	-1.65128738568244	0.01029	0.04464861	-1.46518231632646	0.02636	0.1215648	0.999996036317984	0.74766	0.634777	0.41761	0	0.672317	0.65289	0	0.643519	0.47002	0	0.663205	0.64265	0	.	.	3.16	1.33	0.20958	1.006000	0.29449	.	.	-1.096000	0.01523	0.050000	0.21411	0.000000	0.08366	0.043000	0.14563	0.0:0.778:0.0:0.222	7.857	0.28649	934	0.15400	Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.260000	0.227273	0.254076	0.257426	0.150000	0.267241	0.246951	0.265152	0.2105	2740.21	219	chr6	31355425	.	T	C	2740.21	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-0.64;DP=3555;ExcessHet=4.0268;FS=22.975;InbreedingCoeff=-0.2667;MLEAC=8;MLEAF=0.211;MQ=58;MQRankSum=-13.22;QD=1.62;ReadPosRankSum=-0.429;SOR=1.567	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:180,19:199:99:0|1:31355425_T_C:248,0,7326:31355425	11	0	8	0
chr6	31356247	31356247	C	0	exonic	HLA-B	.	.	.	.	27	191	3	0	1301	1304	0.00779221	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	28154.8	93	chr6	31356247	.	C	*	28154.8	.	AC=4;AF=0.105;AN=38;BaseQRankSum=4.65;DP=2188;ExcessHet=3.6106;FS=0.533;InbreedingCoeff=-0.1709;MLEAC=4;MLEAF=0.105;MQ=49.38;MQRankSum=-1.585;QD=15.54;ReadPosRankSum=-0.627;SOR=0.652	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:1,32:118:99:.:.:4683,3349,3523:.	15	0	4	0
chr6	31356717	31356720	AGGT	0	exonic	HLA-B	.	.	.	.	38	705	540	138	101	917	0.366577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	10241.9	43	chr6	31356717	.	AGGT	*	10241.9	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.911;DP=1052;ExcessHet=0.3394;FS=8.004;InbreedingCoeff=0.1815;MLEAC=3;MLEAF=0.079;MQ=53.7;MQRankSum=-5.894;QD=14.61;ReadPosRankSum=-0.931;SOR=1.291	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:48,41:89:99:0|1:31356711_C_CGG:1577,0,1892:31356711	16	0	3	0
chr6	31356720	31356720	T	0	exonic	HLA-B	.	.	.	.	2	80	21	0	123	144	0.116022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	2127.41	43	chr6	31356720	.	T	*	2127.41	.	AC=12;AF=0.333;AN=36;DP=1057;ExcessHet=0.0278;FS=7.087;InbreedingCoeff=0.3681;MLEAC=12;MLEAF=0.333;MQ=55.52;QD=3.57;SOR=1.198	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,44:98:99:1|0:31356711_C_CGG:4115,2267,2135:31356711	9	3	6	1
chr6	31356748	31356750	CCT	0	exonic	HLA-B	.	.	.	.	92	56	75	5	1294	1379	0.431472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8684	754.83	150	chr6	31356748	.	CCT	*	754.83	.	AC=33;AF=0.868;AN=38;DP=2092;ExcessHet=0.7564;FS=0.797;InbreedingCoeff=-0.1176;MLEAC=33;MLEAF=0.868;MQ=52.89;QD=0.36;SOR=0.837	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,58:131:99:0|1:31356711_C_CGG:2216,0,2891:31356711	0	14	5	0
chr6	31412383	31412384	TG	0	exonic;splicing	MICA;MICA	NM_000247:exon6:r.spl	.	.	.	653	335	270	56	208	590	0.363118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	11117.1	61	chr6	31412383	.	TG	*	11117.1	.	AC=7;AF=0.184;AN=38;BaseQRankSum=0.569;DP=1342;ExcessHet=0.0541;FS=0;InbreedingCoeff=0.3667;MLEAC=7;MLEAF=0.184;MQ=60;MQRankSum=0;QD=14.88;ReadPosRankSum=-0.358;SOR=0.749	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,34:68:99:.:.:2677,1229,1325:.	12	0	7	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3421	15088.7	61	chr6	31412384	.	G	*	15088.7	.	AC=13;AF=0.342;AN=38;BaseQRankSum=1.42;DP=1354;ExcessHet=5.6906;FS=0;InbreedingCoeff=-0.2828;MLEAC=13;MLEAF=0.342;MQ=60;MQRankSum=0;QD=15.44;ReadPosRankSum=0.242;SOR=0.761	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,34:68:96:.:.:1448,0,96:.	7	1	11	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	.	.	.	.	.	.	.	.	0.4706	9298.23	135	chr6	31625601	.	T	C	9298.23	.	AC=16;AF=0.471;AN=34;BaseQRankSum=-2.715;DP=2550;ExcessHet=25.4433;FS=276.319;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.33;ReadPosRankSum=1.09;SOR=12.613	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:95,28:123:99:0|1:31625601_T_C:612,0,3510:31625601	1	0	16	2
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	.	.	.	.	.	.	.	.	0.4706	10016.2	136	chr6	31625602	.	G	A	10016.2	.	AC=16;AF=0.471;AN=34;BaseQRankSum=-3.692;DP=2549;ExcessHet=25.4433;FS=287.442;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.7;ReadPosRankSum=1.15;SOR=12.674	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:95,28:123:99:0|1:31625601_T_C:612,0,3510:31625601	1	0	16	2
chr6	31632205	31632207	CCT	-	exonic	PRRC2A	.	nonframeshift deletion	PRRC2A:NM_004638:exon16:c.3532_3534del:p.P1179del,PRRC2A:NM_080686:exon16:c.3532_3534del:p.P1179del	.	422	1066	33	1	0	35	0.0161514	.	.	.	3216452	PRRC2A-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0020	0.000798722	0.0021	0.0002	0.0008	0.0025	0.0002	0.0029	0.0012	0.0012	0.0001164	18	154602	rs547196862	0.0017	0.0017	0.0017	0.0018	0.0189	0.0017	0.0016	0.0160	0.0149	0.0004	0.0014	0.0029	0.0008	7.677e-05	0.0189	0.0018	0.0023	0.0013	0.0015	0.0015	0.0014	0.0016	0.0024	0.0014	0.0013	0.0021	0.0020	0.0003	0	0.0014	0.0017	0.0006	0	0.0170	0.0024	0.0043	0.0014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009259	0.000000	0.006793	0.010638	0.000000	0.035088	0.018293	0.000000	0.02632	1623.29	36	chr6	31632204	.	CCCT	C	1623.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.909;DP=739;ExcessHet=0;FS=0.84;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.04;ReadPosRankSum=-0.299;SOR=0.551	GT:AD:DP:GQ:PL	0/1:39,42:81:99:1637,0,1490	18	0	1	0
chr6	31972156	31972156	T	A	exonic	STK19	.	nonsynonymous SNV	STK19:NM_032454:exon1:c.T160A:p.C54S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.00287902383441	7.7e-05	.	5.235e-05	0	8.809e-05	0	0	8.032e-05	0	0	4.53e-05	7	154602	rs148790657	2.465e-05	2.463e-05	1.907e-05	3.028e-05	0.0003	1.805e-05	1.602e-05	6.096e-05	2.522e-05	0	6.713e-05	0	0	3.81e-05	0.0003	2.249e-05	1.656e-05	3.48e-05	2.629e-05	2.627e-05	0	5.38e-05	0.0002	8.14e-06	5.14e-06	.	.	0	0	6.542e-05	0	0	0	0.0032	1.47e-05	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	0.0	0.02946	B	0.001	0.04355	B	0.540094	0.05308	N	1.345940	0.999331	0.21346	N	0.805	0.20218	L	0.57	0.54347	T	-9.38	0.98366	D	0.079	0.07262	-1.0750	0.08348	T	0.027	0.11441	T	10	0.0584251	0.06866	T	0.002879	0.06074	T	0.031	0.07369	0.262	0.20631	0.0716867268079	0.06686	0.03934026499271113	0.03880	0.769041256534	0.64673	0.599627494812	0.52851	T	0.002426	0.01816	T	-0.301193	0.08548	T	-0.472776	0.25218	T	0.102464860913081	0.12626	T	0.355964	0.08087	T	0.078457646	0.17868	0.14026846	0.33440	0.078457646	0.17868	0.14026846	0.33440	-1.85	0.02662	T	.	.	0.430	0.61203	A	.;.;.	.;.;.	-0.121577	0.03515	0.666	0.7763713262115759	0.11959	0.00162	0.00966	N	ALL	0.057450	0.10701	N	-1.6982619228286	0.00848	0.036681	-1.84276231887326	0.00632	0.02807231	1.0	0.98316	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.249971	0.05119	0	.	.	4.54	-9.07	0.00619	-3.969000	0.00364	.	.	-0.169000	0.11342	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.2919:0.3089:0.2382:0.161	1.128	0.01632	923	0.18507	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1283.33	39	chr6	31972156	.	T	A	1283.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.81;DP=839;ExcessHet=0;FS=3.572;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.56;ReadPosRankSum=-1.018;SOR=1.081	GT:AD:DP:GQ:PL	0/1:65,46:111:99:1297,0,1819	18	0	1	0
chr6	32521970	32521970	G	0	exonic	HLA-DRB5	.	.	.	.	128	791	65	0	538	603	0.0394657	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3438	1395.66	11	chr6	32521970	.	G	*	1395.66	.	AC=11;AF=0.344;AN=32;BaseQRankSum=3.94;DP=3885;ExcessHet=12.1646;FS=6.428;InbreedingCoeff=-0.5081;MLEAC=12;MLEAF=0.375;MQ=54.99;MQRankSum=-8.845;QD=0.55;ReadPosRankSum=-4.685;SOR=1.058	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:197,55:292:99:0|1:32521930_A_C:1716,0,8106:32521930	5	0	11	3
chr6	32521978	32521979	GT	0	exonic	HLA-DRB5	.	.	.	.	198	662	145	14	503	676	0.115564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3438	10871.8	10	chr6	32521978	.	GT	*	10871.8	.	AC=11;AF=0.344;AN=32;BaseQRankSum=3.86;DP=3693;ExcessHet=2.6076;FS=6.987;InbreedingCoeff=-0.1963;MLEAC=12;MLEAF=0.375;MQ=51.5;MQRankSum=-8.353;QD=4.27;ReadPosRankSum=-5.004;SOR=0.823	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:182,52:272:99:0|1:32521930_A_C:1631,0,7506:32521930	5	0	11	3
chr6	32522156	32522156	T	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	44319.5	174	chr6	32522156	.	T	*	44319.5	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-0.806;DP=2448;ExcessHet=0.2833;FS=5.16;InbreedingCoeff=0.1857;MLEAC=7;MLEAF=0.184;MQ=51.87;MQRankSum=-12.7;QD=19.52;ReadPosRankSum=2.12;SOR=0.444	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:130,14:158:0:0|1:32522156_T_*:197,0,5417:32522156	11	0	8	0
chr6	32530184	32530184	T	0	exonic	HLA-DRB5	.	.	.	.	81	232	140	96	973	1305	0.417085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6316	36204.6	117	chr6	32530184	.	T	*	36204.6	.	AC=24;AF=0.632;AN=38;BaseQRankSum=-1.048;DP=1952;ExcessHet=0.0506;FS=1.466;InbreedingCoeff=0.3091;MLEAC=24;MLEAF=0.632;MQ=55.76;MQRankSum=-11;QD=20.24;ReadPosRankSum=-1.33;SOR=0.868	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,21:126:99:0|1:32530184_T_*:5238,4256,4201:32530184	1	6	12	0
chr6	32530185	32530185	T	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5833	40557.0	113	chr6	32530185	.	T	*	40557.0	.	AC=21;AF=0.583;AN=36;DP=1897;ExcessHet=0.0015;FS=0.786;InbreedingCoeff=0.4685;MLEAC=22;MLEAF=0.611;MQ=55.19;QD=24.54;SOR=0.812	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,18:123:99:0|1:32530184_T_*:5129,4256,4210:32530184	2	5	11	1
chr6	32584177	32584178	CG	0	exonic	HLA-DRB1	.	.	.	.	55	575	391	86	415	978	0.328663	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2895	36894.9	402	chr6	32584177	.	CG	*	36894.9	.	AC=11;AF=0.289;AN=38;BaseQRankSum=3.25;DP=4323;ExcessHet=5.5644;FS=1.8;InbreedingCoeff=-0.2667;MLEAC=11;MLEAF=0.289;MQ=53.78;MQRankSum=2.42;QD=9.69;ReadPosRankSum=0.473;SOR=0.828	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:105,47:152:99:0|1:32584176_CCG_C:1637,0,4267:32584176	10	2	7	0
chr6	32584178	32584178	G	0	exonic	HLA-DRB1	.	.	.	.	53	515	203	35	716	989	0.209517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4737	8530.17	402	chr6	32584178	.	G	*	8530.17	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.31;DP=4315;ExcessHet=3.6106;FS=1.159;InbreedingCoeff=-0.1709;MLEAC=18;MLEAF=0.474;MQ=53.54;MQRankSum=-3.51;QD=2.37;ReadPosRankSum=0.706;SOR=0.827	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:105,47:152:99:0|1:32584176_CCG_C:1637,0,4267:32584176	3	2	14	0
chr6	32584370	32584370	G	0	exonic	HLA-DRB1	.	.	.	.	164	387	826	46	99	1017	0.542553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	53026.9	322	chr6	32584370	.	G	*	53026.9	.	AC=15;AF=0.417;AN=36;BaseQRankSum=3.39;DP=5457;ExcessHet=0.2833;FS=5.809;InbreedingCoeff=0.0877;MLEAC=15;MLEAF=0.417;MQ=53.43;MQRankSum=-13.94;QD=10.7;ReadPosRankSum=-1.02;SOR=1.11	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:256,103:377:99:.:.:3596,0,10416:.	3	0	15	1
chr6	32641444	32641444	G	0	exonic	HLA-DQA1	.	.	.	.	476	488	96	33	429	591	0.142355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	8603.32	126	chr6	32641444	.	G	*	8603.32	.	AC=19;AF=0.5;AN=38;BaseQRankSum=4.16;DP=3608;ExcessHet=1.7862;FS=13.485;InbreedingCoeff=-0.0523;MLEAC=19;MLEAF=0.5;MQ=56.46;MQRankSum=-11.23;QD=2.84;ReadPosRankSum=-3.962;SOR=1	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:186,45:231:99:0|1:32641430_C_T:1330,0,7675:32641430	4	4	11	0
chr6	32641445	32641445	A	0	exonic	HLA-DQA1	.	.	.	.	478	485	97	33	429	592	0.143866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	8744.32	123	chr6	32641445	.	A	*	8744.32	.	AC=19;AF=0.5;AN=38;BaseQRankSum=5.85;DP=3609;ExcessHet=1.7862;FS=13.485;InbreedingCoeff=-0.0523;MLEAC=19;MLEAF=0.5;MQ=56.48;MQRankSum=-11.25;QD=2.89;ReadPosRankSum=-3.865;SOR=1	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:186,45:231:99:0|1:32641430_C_T:1330,0,7675:32641430	4	4	11	0
chr6	32641462	32641462	G	0	exonic	HLA-DQA1	.	.	.	.	480	493	54	16	479	565	0.0802239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5263	8228.31	130	chr6	32641462	.	G	*	8228.31	.	AC=20;AF=0.526;AN=38;DP=3714;ExcessHet=1.7862;FS=5.077;InbreedingCoeff=-0.0523;MLEAC=20;MLEAF=0.526;MQ=56.58;QD=2.65;SOR=0.805	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:196,48:244:99:0|1:32641430_C_T:1426,0,8085:32641430	3	4	12	0
chr6	32641464	32641464	T	0	exonic	HLA-DQA1	.	.	.	.	475	499	54	15	479	563	0.077634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5263	8147.31	129	chr6	32641464	.	T	*	8147.31	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-1.229;DP=3714;ExcessHet=1.7862;FS=5.077;InbreedingCoeff=-0.0523;MLEAC=20;MLEAF=0.526;MQ=57.44;MQRankSum=-9.417;QD=2.64;ReadPosRankSum=-2.677;SOR=0.807	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:196,48:244:99:0|1:32641430_C_T:1426,0,8085:32641430	3	4	12	0
chr6	32641501	32641501	G	0	exonic	HLA-DQA1	.	.	.	.	496	603	6	2	415	425	0.00822368	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	17426.3	154	chr6	32641501	.	G	*	17426.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=5.31;DP=3915;ExcessHet=1.7862;FS=1.137;InbreedingCoeff=-0.0523;MLEAC=19;MLEAF=0.5;MQ=58.28;MQRankSum=-6.588;QD=5.23;ReadPosRankSum=1.7;SOR=0.748	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:237,38:275:99:0|1:32641476_G_A:882,0,9837:32641476	4	4	11	0
chr6	32641522	32641522	A	0	exonic	HLA-DQA1	.	.	.	.	497	607	54	19	345	437	0.0704441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	18488.6	155	chr6	32641522	.	A	*	18488.6	.	AC=19;AF=0.5;AN=38;BaseQRankSum=4.13;DP=4106;ExcessHet=1.7862;FS=3.314;InbreedingCoeff=-0.0523;MLEAC=19;MLEAF=0.5;MQ=58.48;MQRankSum=-6.247;QD=5.33;ReadPosRankSum=2.42;SOR=0.982	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:237,42:279:99:0|1:32641476_G_A:893,0,9764:32641476	4	4	11	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	.	.	.	.	.	.	.	.	0.05263	5384.83	247	chr6	33670361	.	C	A	5384.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.61;DP=1060;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.76;ReadPosRankSum=1.52;SOR=0.706	GT:AD:DP:GQ:PL	0/1:81,94:175:99:2383,0,2089	17	0	2	0
chr6	35477319	35477319	G	A	exonic	TEAD3	.	nonsynonymous SNV	TEAD3:NM_003214:exon8:c.C584T:p.T195M	.	418	1103	1	0	0	1	0.000453104	.	.	.	2729596	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.086	0.0150071486071	0.0002	0.000399361	0.0002	0.0001	0.0005	0	0	0.0002	0	0.0001	0.0001746	27	154602	rs199668648	8.242e-05	8.482e-05	8.065e-05	8.42e-05	0.0007	7.03e-05	6.578e-05	0.0004	0.0003	0.0002	0.0006	7.653e-05	2.519e-05	0	0.0007	5.577e-05	0.0002	8.116e-05	0.0001	0.0001	8.993e-05	0.0002	0.0011	8.659e-05	7.252e-05	0.0007	0.0006	0	0	0.0011	0	0	0	0	2.94e-05	0	0.0002	0.056	0.38185	T	0.091	0.40110	T	.	.	.	.	.	.	0.004198	0.34013	N	0.316782	0.999919	0.19599	N	.	.	.	1.55	0.29866	T	-1.81	0.42575	N	.	.	-1.0833	0.06720	T	0.076	0.30397	T	10	0.06661466	0.09162	T	0.015007	0.35490	T	0.086	0.25016	.	.	0.389750110748	0.38591	0.2852345618923032	0.28436	.	.	0.425604343414	0.28607	T	.	.	.	-0.446648	0.01182	T	-0.510605	0.21252	T	0.0840055271983147	0.10491	T	0.847215	0.52823	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.11606	B	.;.	.;.	4.191429	0.63182	24.5	0.99023910815561278	0.50634	0.83733	0.42832	D	AEFDBHCI	0.651787	0.62541	D	0.31249655364561	0.56790	3.844291	0.275410323925857	0.54107	3.576788	0.999999999999999	0.74766	0.650006	0.45971	0	0.547309	0.14657	0	0.606735	0.37207	0	0.567892	0.33627	0	.	.	5.02	5.02	0.66742	5.183000	0.64902	9.722000	0.81369	0.676000	0.76740	0.945000	0.32849	1.000000	0.68203	0.715000	0.34611	0.0:0.0:1.0:0.0	15.872	0.78908	607	0.67291	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1381.33	34	chr6	35477319	.	G	A	1381.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.59;DP=740;ExcessHet=0;FS=7.302;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.33;ReadPosRankSum=0.801;SOR=1.269	GT:AD:DP:GQ:PL	0/1:59,53:112:99:1395,0,1463	18	0	1	0
chr6	42268582	42268582	G	C	exonic	TRERF1	.	nonsynonymous SNV	TRERF1:NM_001297573:exon5:c.C1009G:p.Q337E,TRERF1:NM_033502:exon5:c.C1009G:p.Q337E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00345834549751	.	0.000199681	0.0002	0	8.637e-05	0	0	0	0.0011	0.0013	0.0001617	25	154602	rs572408738	0.0001	0.0001	7.896e-05	0.0002	0.0019	0.0001	0.0001	0.0017	0.0016	5.974e-05	0	0	0	0	0.0002	1.799e-06	0.0002	0.0019	7.223e-05	7.218e-05	0	0.0001	0.0023	3.969e-05	3.125e-05	0.0013	0.0010	0	0	0	0	0	0	0	0	0	0.0023	0.003	0.68238	D	0.008	0.76473	D	0.084	0.27347	B	0.034	0.28220	B	0.048369	0.23258	N	0.308551	0.623724	0.33285	D	1.795	0.47270	L	2.58	0.16351	T	-0.92	0.32791	N	0.279	0.42931	-1.0610	0.11508	T	0.018	0.07282	T	10	0.013855368	0.00293	T	0.003458	0.07817	T	0.027	0.05988	0.154	0.05752	0.281547015583	0.27767	0.2998410987875348	0.29897	0.153881245274	0.17371	0.367941081524	0.20536	T	0.017355	0.25546	T	-0.451143	0.01112	T	-0.428076	0.30153	T	0.0948296440150792	0.11778	T	0.848415	0.53103	T	0.2119293	0.43531	0.23710631	0.48999	0.2119293	0.43531	0.23710631	0.48998	-5.826	0.45444	T	.	.	0.128	0.32202	B	.;.;.;.;.	.;.;.;.;.	3.202056	0.43554	21.8	0.98031465382875693	0.37712	0.98706	0.85820	D	AEFDBI	0.708835	0.66312	D	-0.0495846156719222	0.39622	2.339472	0.131019126048943	0.46143	2.865254	0.999998859181995	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.655142	0.61905	0	.	.	5.79	4.89	0.63387	6.332000	0.72889	8.457000	0.77235	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.1328:0.8672:0.0	16.289	0.82565	874	0.30607	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1960.33	35	chr6	42268582	.	G	C	1960.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.125;DP=730;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.49;ReadPosRankSum=-0.86;SOR=0.634	GT:AD:DP:GQ:PL	0/1:34,72:106:99:1974,0,900	18	0	1	0
chr6	42676170	42676170	A	G	exonic	UBR2	.	nonsynonymous SNV	UBR2:NM_001363705:exon39:c.A4366G:p.I1456V,UBR2:NM_015255:exon39:c.A4366G:p.I1456V	.	432	1082	8	0	0	8	0.00368324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	.	0.0002	0.00479233	0.0026	0.0003	0.0002	0	0	0	0.0011	0.0191	0.0022186	343	154602	rs138783967	0.0011	0.0011	0.0006	0.0015	0.0172	0.0010	0.0010	0.0164	0.0161	0.0002	0.0001	0	2.536e-05	0	0.0002	7.199e-06	0.0009	0.0172	0.0008	0.0008	0.0004	0.0011	0.0189	0.0006	0.0006	0.0157	0.0146	0.0005	0	0.0001	0	0	0	0	0	0.0005	0.0189	0.079	0.33753	T	0.182	0.30143	T	0.014	0.25247	B	0.023	0.34106	B	0.000004	0.62929	D	0.102091	0.999822	0.81001	D	1.445	0.36358	L	0.56	0.54540	T	-0.46	0.14978	N	0.26	0.29429	-1.0677	0.09926	T	0.070	0.28740	T	10	0.0068107843	0.00155	T	.	.	.	0.115	0.32236	.	.	0.0675242888579	0.06100	0.12486470991467384	0.12412	0.339876716782	0.35937	0.600550293922	0.52982	T	0.178575	0.52927	T	-0.524214	0.00416	T	-0.510837	0.21230	T	0.0350808857572868	0.02822	T	0.842116	0.51841	T	0.03456993	0.03903	0.059337877	0.11118	0.03456993	0.03903	0.059337877	0.11117	-3.748	0.20029	T	.	.	0.113	0.27762	B	.;.	.;.	2.119684	0.26979	17.31	0.99138202563181377	0.53464	0.91509	0.53680	D	AEFGBI	0.314866	0.41960	N	-0.265765024331248	0.30478	1.699878	-0.15144427833762	0.33353	1.906985	0.7181789030243	0.22899	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.03	2.54	0.29674	2.602000	0.45921	4.622000	0.44080	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.7921:0.1352:0.0727:0.0	8.000	0.29449	522	0.74218	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	1829.33	38	chr6	42676170	.	A	G	1829.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.07;DP=789;ExcessHet=0;FS=2.127;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.53;ReadPosRankSum=0.585;SOR=0.891	GT:AD:DP:GQ:PL	0/1:74,72:146:99:1843,0,1827	18	0	1	0
chr6	43438628	43438628	C	T	exonic	ABCC10	.	nonsynonymous SNV	ABCC10:NM_033450:exon6:c.C1876T:p.R626C,ABCC10:NM_001198934:exon8:c.C1960T:p.R654C,ABCC10:NM_001350518:exon8:c.C628T:p.R210C	.	423	1082	17	0	0	17	0.00779459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.169	0.047969511757	0.0008	.	0.0008	9.625e-05	0.0004	0.0001	0	0.0012	0.0033	0.0005	0.0007438	115	154602	rs142854084	0.0008	0.0008	0.0007	0.0008	0.0097	0.0007	0.0007	0.0077	0.0069	0.0002	0.0005	0.0020	0.0002	0.0001	0.0097	0.0007	0.0011	0.0015	0.0007	0.0007	0.0008	0.0006	0.0011	0.0006	0.0006	0.0009	0.0009	0.0002	0	0.0005	0.0017	0.0002	9.413e-05	0.0034	0.0011	0.0005	0.0010	0.082	0.33254	T	0.148	0.35330	T	0.009	0.17086	B	0.003	0.16460	B	0.940964	0.08354	N	0.976043	1	0.08975	N	2.235	0.63160	M	-3.33	0.93928	D	-2.63	0.64019	D	0.202	0.22357	-0.5263	0.67681	T	0.465	0.79317	T	10	0.038787007	0.02321	T	0.04797	0.63161	D	0.169	0.43123	.	.	0.726201999256	0.72377	0.6434745691545959	0.64282	0.22161490424	0.24695	0.25750875473	0.04599	T	0.533371	0.88576	D	-0.290953	0.09540	T	-0.236262	0.51162	T	0.0174003051293453	0.00478	T	0.851115	0.53499	D	0.100255355	0.23671	0.05655513	0.10127	0.100255355	0.23671	0.05655513	0.10126	-7.594	0.58269	D	.	.	0.114	0.22537	B	.;.;.	.;.;.	1.191963	0.15836	12.13	0.96563484870347938	0.30268	0.15122	0.18755	N	AEFDBI	0.206029	0.33233	N	-0.838105808010063	0.12344	0.601142	-0.887282095227875	0.12394	0.6373132	0.999471259120078	0.39898	0.719381	0.83141	0	0.577304	0.33150	0	0.709663	0.75317	0	0.733575	0.97253	0	.	.	5.72	-1.27	0.08863	-0.054000	0.11783	0.089000	0.14491	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.488000	0.28746	0.1187:0.201:0.4987:0.1815	3.871	0.08543	493	0.76500	ABC transporter-like;ABC transporter-like|ABC transporter-like|AAA+ ATPase domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.010081	0.005051	0.009511	0.026316	0.000000	0.034483	0.000000	0.003788	0.02632	1304.33	35	chr6	43438628	.	C	T	1304.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.218;DP=720;ExcessHet=0;FS=3.059;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.88;ReadPosRankSum=1.68;SOR=1.14	GT:AD:DP:GQ:PL	0/1:49,45:94:99:1318,0,1346	18	0	1	0
chr6	44229406	44229406	C	T	exonic	SLC29A1	.	nonsynonymous SNV	SLC29A1:NM_001304465:exon3:c.C124T:p.L42F,SLC29A1:NM_001304466:exon3:c.C121T:p.L41F,SLC29A1:NM_001372327:exon3:c.C46T:p.L16F,SLC29A1:NM_001078175:exon4:c.C46T:p.L16F,SLC29A1:NM_001078177:exon4:c.C46T:p.L16F,SLC29A1:NM_001304462:exon4:c.C283T:p.L95F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.199	0.0270842663741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	0.20835	T	0.239	0.24477	T	0.722	0.42387	P	0.21	0.37304	B	0.000291	0.46274	D	0.141721	0.992018	0.41532	D	1.12	0.28775	L	-0.64	0.72125	T	-1.54	0.37375	N	0.57	0.59563	-0.8125	0.54399	T	0.190	0.54108	T	10	0.2805399	0.45630	T	0.027084	0.49938	D	0.199	0.48268	.	.	0.289027227714	0.28505	.	.	0.314550106018	0.33734	0.57654607296	0.49599	T	0.247412	0.61705	T	-0.0159197	0.49434	T	-0.260644	0.48761	T	0.780354142189026	0.45072	D	0.80002	0.44873	T	0.25879025	0.48930	0.16195175	0.37644	0.25879025	0.48930	0.16195175	0.37643	-6.311	0.48809	T	0.2968931265094968	0.39397	0.101	0.35477	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.476885	0.48538	22.6	0.99733818646622996	0.82975	0.86155	0.45383	D	AEFBI	0.483729	0.52405	N	0.104427770763267	0.46670	2.903757	0.164691005738116	0.47925	3.015602	0.999980561748904	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.34	4.45	0.53365	1.246000	0.32405	1.800000	0.28874	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1479:0.7746:0.0:0.0775	8.891	0.34594	794	0.45591	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	653.84	109	chr6	44229406	.	C	T	653.84	.	AC=8;AF=0.25;AN=32;BaseQRankSum=-2.959;DP=1754;ExcessHet=4.0268;FS=181.44;InbreedingCoeff=-0.3334;MLEAC=9;MLEAF=0.281;MQ=60;MQRankSum=0;QD=0.74;ReadPosRankSum=0.762;SOR=9.869	GT:AD:DP:GQ:PL	0/1:83,34:117:78:78,0,1506	8	0	8	3
chr6	80007990	80007990	G	C	exonic	TTK	.	nonsynonymous SNV	TTK:NM_001166691:exon3:c.G321C:p.E107D,TTK:NM_003318:exon3:c.G321C:p.E107D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.607	0.126467273608	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	8.893e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.035	0.92824	D	0.999	0.77913	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	0.938546	0.37229	D	2.62	0.76659	M	-2.54	0.89496	D	-1.53	0.56787	N	0.406	0.46649	0.480	0.90261	D	0.698	0.89595	D	10	0.39968592	0.55478	T	0.126467	0.80813	D	0.607	0.84559	0.377	0.39156	0.756102065754	0.75388	0.29326060996924297	0.29239	0.586303879314	0.54233	0.593461692333	0.51983	T	0.093775	0.51827	T	0.153432	0.69590	D	-0.0173821	0.69202	D	0.93341064453125	0.60015	D	0.887811	0.64303	D	0.7694828	0.82017	0.34171048	0.59907	0.7694828	0.82018	0.34171048	0.59906	-9.025	0.67858	D	.	.	0.446	0.62023	A	.;.;.;.;.;.	.;.;.;.;.;.	4.273798	0.65043	24.8	0.99838627551170323	0.91972	0.91788	0.54264	D	AEFBI	0.340775	0.43748	N	0.324956302953043	0.57431	3.910505	0.282171109977361	0.54497	3.614648	0.999919670358034	0.45857	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	5.66	2.91	0.32903	2.081000	0.41220	5.042000	0.46920	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.2117:0.0:0.7883:0.0	11.092	0.47344	827	0.39843	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3571	8032.55	22	chr6	80007990	.	G	C	8032.55	.	AC=10;AF=0.357;AN=28;BaseQRankSum=-2.203;DP=910;ExcessHet=8.9063;FS=213.455;InbreedingCoeff=-0.5526;MLEAC=12;MLEAF=0.429;MQ=60;MQRankSum=0;QD=13.17;ReadPosRankSum=0.928;SOR=11.106	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:33,33:66:99:0|1:80007990_G_C:1092,0,1162:80007990	4	0	10	5
chr6	80007992	80007992	G	0	exonic	TTK	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4583	394.98	21	chr6	80007992	.	G	*	394.98	.	AC=11;AF=0.458;AN=24;BaseQRankSum=0.548;DP=887;ExcessHet=22.5857;FS=247.209;InbreedingCoeff=-0.5703;MLEAC=15;MLEAF=0.625;MQ=60;MQRankSum=0;QD=0.62;ReadPosRankSum=1.65;SOR=11.394	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:34,28:67:99:0|1:80007990_G_C:1042,0,1352:80007990	1	0	11	7
chr6	80007993	80007993	T	0	exonic	TTK	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4375	397.65	21	chr6	80007993	.	T	*	397.65	.	AC=7;AF=0.438;AN=16;BaseQRankSum=-0.741;DP=803;ExcessHet=12.7857;FS=238.801;InbreedingCoeff=-0.3118;MLEAC=12;MLEAF=0.75;MQ=60;MQRankSum=0;QD=0.96;ReadPosRankSum=1.99;SOR=10.505	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:34,28:67:99:0|1:80007990_G_C:1042,0,1352:80007990	1	0	7	11
chr6	80007995	80007995	-	CCCC	exonic	TTK	.	frameshift insertion	TTK:NM_001166691:exon3:c.326_327insCCCC:p.A110Pfs*3,TTK:NM_003318:exon3:c.326_327insCCCC:p.A110Pfs*3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.315e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	2459.5	21	chr6	80007995	.	T	TCCCC	2459.5	.	AC=4;AF=0.2;AN=20;BaseQRankSum=0.037;DP=798;ExcessHet=15.1594;FS=240.59;InbreedingCoeff=-0.3379;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=5.27;ReadPosRankSum=2.01;SOR=10.704	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:32,19:63:99:.:.:873,0,1307:.	6	0	4	9
chr6	83138106	83138106	G	A	exonic	DOP1A	.	nonsynonymous SNV	DOP1A:NM_001199942:exon21:c.G4037A:p.R1346Q,DOP1A:NM_015018:exon21:c.G4064A:p.R1355Q	.	426	1094	2	0	0	2	0.000913242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.267	.	7.7e-05	0.00339457	0.0010	0	8.679e-05	0.0130	0	1.501e-05	0.0011	0.0001	0.0008926	138	154602	rs142639349	0.0005	0.0005	0.0005	0.0005	0.0157	0.0004	0.0004	0.0147	0.0143	0	2.236e-05	0	0.0157	0	0	2.698e-05	0.0004	0.0002	0.0005	0.0005	0.0004	0.0006	0.0139	0.0004	0.0004	0.0113	0.0104	0	0	6.552e-05	0	0.0139	0	0	2.942e-05	0.0009	0.0002	0.033	0.44358	D	0.494	0.11407	T	0.905	0.49920	P	0.158	0.34617	B	0.000021	0.55875	D	0.119553	0.992441	0.41647	D	0.895	0.22405	L	1.87	0.24285	T	0.74	0.02038	N	0.672	0.67995	-1.0878	0.05908	T	0.029	0.12234	T	10	0.0072662532	0.00165	T	.	.	.	0.267	0.58126	.	.	0.0934897674506	0.08844	0.43386802220650916	0.43303	0.300946215682	0.32444	0.497527867556	0.38484	T	0.01005	0.09105	T	-0.296838	0.08961	T	-0.188132	0.55766	T	0.0662610206994532	0.08116	T	0.914109	0.69400	D	0.09314974	0.21871	0.11184152	0.26982	0.09314974	0.21870	0.11184152	0.26981	-3.633	0.18335	T	.	.	0.084	0.10931	B	.;.;.	.;.;.	3.645059	0.51706	23.1	0.97007044870773185	0.31969	0.97431	0.74706	D	AEFGBI	0.679747	0.64367	D	0.258126459578032	0.54042	3.570846	0.395926907953139	0.61312	4.329722	0.99998963399249	0.51787	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.96	5.96	0.96695	6.132000	0.71419	3.545000	0.39022	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.961000	0.51904	0.0:0.0:1.0:0.0	20.419	0.99035	668	0.61153	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	2704.33	33	chr6	83138106	.	G	A	2704.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.75;DP=810;ExcessHet=0;FS=0.556;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.02;ReadPosRankSum=0.675;SOR=0.78	GT:AD:DP:GQ:PL	0/1:82,98:180:99:2718,0,1982	18	0	1	0
chr6	116253540	116253540	G	T	exonic	TSPYL4	.	nonsynonymous SNV	TSPYL4:NM_021648:exon1:c.C469A:p.R157S	.	418	1079	22	3	0	28	0.0128088	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	.	.	0.00119808	0.0061	0	0	0	0	0.0040	0.0042	0.0123	0.0011837	183	154602	rs182432245	0.0018	0.0017	0.0014	0.0022	0.0124	0.0017	0.0017	0.0118	0.0115	0.0003	0.0011	0.0104	2.798e-05	0.0003	0.0065	0.0009	0.0029	0.0124	0.0014	0.0014	0.0013	0.0015	0.0108	0.0012	0.0012	0.0085	0.0076	0.0002	0	0.0013	0.0075	0.0002	9.443e-05	0.0102	0.0014	0.0024	0.0108	0.721	0.03914	T	0.739	0.05000	T	0.003	0.11197	B	0.001	0.04355	B	.	.	.	.	0.999996	0.08975	N	0	0.06538	N	2.22	0.18248	T	0.82	0.01813	N	0.108	0.09349	-0.9230	0.45141	T	0.004	0.01435	T	9	0.0025902987	0.00039	T	.	.	.	0.008	0.00669	.	.	0.0482279557977	0.04254	0.09711456065731681	0.09642	0.372870948759	0.38771	0.356619268656	0.18893	T	0.00125	0.00742	T	-0.722558	0.00027	T	-0.800293	0.01895	T	0.0021529706113725	0.00022	T	0.135486	0.01070	T	0.078095175	0.17764	0.061591078	0.11916	0.078095175	0.17763	0.061591078	0.11916	-3.624	0.18204	T	.	.	0.112	0.21913	B	.	.	-0.051698	0.03940	0.877	0.80589257094945266	0.13275	0.07228	0.13253	N	ALL	0.085917	0.17419	N	-1.7363353794475	0.00721	0.03111612	-1.69043245975076	0.01180	0.05311064	0.999999999993605	0.74766	0.468429	0.09910	2	0.504199	0.08210	0	0.504199	0.09095	0	0.241949	0.04745	2	.	.	4.19	-3.56	0.04330	-0.401000	0.07293	-0.038000	0.12706	-0.741000	0.03665	0.000000	0.06391	0.000000	0.08366	0.431000	0.27472	0.2239:0.4961:0.1579:0.1221	3.581	0.07502	559	0.71409	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006471	0.000000	0.013699	0.006250	0.000000	0.000000	0.010417	0.004808	0.02632	2181.33	121	chr6	116253540	.	G	T	2181.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.79;DP=1620;ExcessHet=0;FS=1.85;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.05;ReadPosRankSum=0.18;SOR=0.543	GT:AD:DP:GQ:PL	0/1:99,82:181:99:2195,0,2414	18	0	1	0
chr6	129512425	129512425	A	T	exonic	LAMA2	.	nonsynonymous SNV	LAMA2:NM_001079823:exon62:c.A8908T:p.T2970S,LAMA2:NM_000426:exon63:c.A8920T:p.T2974S	Muscular dystrophy, congenital merosin-deficient, Autosomal recessive;Muscular dystrophy, congenital, due to partial LAMA2 deficiency, Autosomal recessive	1	1520	1	0	0	1	0.000328839	.	.	.	456130	Inborn_genetic_diseases|not_provided|Muscular_dystrophy,_limb-girdle,_autosomal_recessive_23|Merosin_deficient_congenital_muscular_dystrophy|LAMA2-related_muscular_dystrophy	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0029136,MedGen:C4748327,OMIM:618138,Orphanet:565837|MONDO:MONDO:0011925,MedGen:C1263858,OMIM:607855,Orphanet:258|MONDO:MONDO:0100228,MedGen:C5679788	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.055	0.0150044340442	0.0002	.	4.946e-05	0.0005	0	0	0	0	0.0011	0	3.88e-05	6	154602	rs140202046	3.011e-05	3.01e-05	3.814e-05	2.201e-05	0.0010	2.283e-05	2.033e-05	0.0008	0.0007	0.0010	6.709e-05	0	0	0	0.0002	8.998e-07	6.627e-05	0	0.0002	0.0002	0.0002	0.0001	0.0006	0.0001	0.0001	0.0004	0.0003	0.0006	0	0.0001	0	0	0	0	0	0.0010	0	0.183	0.21718	T	.	.	.	0.089	0.25085	B	0.03	0.21741	B	0.000202	0.47681	D	0.207467	0.907465	0.27577	N	-0.41	0.02942	N	1.11	0.38883	T	0.45	0.03191	N	0.255	0.37197	-1.0312	0.20066	T	0.016	0.06711	T	9	0.15621036	0.29424	T	0.015004	0.35474	T	0.055	0.15663	0.407	0.44066	0.530409124356	0.52689	0.27228903208989796	0.27141	0.0878513026773	0.09920	0.469447463751	0.34604	T	0.011377	0.26261	T	-0.410534	0.01971	T	-0.458731	0.26738	T	0.0569913872001711	0.06687	T	0.762924	0.38892	T	0.09622311	0.22661	0.1330865	0.31921	0.09622311	0.22661	0.1330865	0.31920	-1.689	0.02200	T	0.09697154172927118	0.06771	0.080	0.07745	B	.;.;.	.;.;.	1.780743	0.22640	15.70	0.94027639841618738	0.24139	0.93187	0.57552	D	AEFBI	0.502734	0.53502	D	-0.370049254937731	0.26541	1.449351	-0.133382055883458	0.34054	1.954638	0.997886283795499	0.36150	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.528226	0.09195	0	.	.	5.59	5.59	0.84677	3.940000	0.56310	9.256000	0.79525	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.263000	0.23594	1.0:0.0:0.0:0.0	15.776	0.77992	741	0.52966	Laminin G domain|Laminin G domain|Laminin G domain;Laminin G domain|Laminin G domain|Laminin G domain;Laminin G domain|Laminin G domain|Laminin G domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1468.33	34	chr6	129512425	.	A	T	1468.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.98;DP=758;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=-0.048;SOR=0.763	GT:AD:DP:GQ:PL	0/1:57,57:114:99:1482,0,1305	18	0	1	0
chr6	129629396	129629396	T	C	exonic	ARHGAP18	.	nonsynonymous SNV	ARHGAP18:NM_033515:exon5:c.A743G:p.K248R	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	.	0.0097	0.00938498	0.0028	0.0324	0.0005	0	0	1.499e-05	0.0011	0	0.0026714	413	154602	rs34706122	0.0009	0.0009	0.0011	0.0008	0.0341	0.0009	0.0009	0.0324	0.0318	0.0341	0.0015	0	0	0	0.0005	2.968e-05	0.0017	1.159e-05	0.0088	0.0089	0.0091	0.0085	0.0310	0.0084	0.0083	0.0296	0.0290	0.0310	0	0.0021	0	0	0	0.0068	7.352e-05	0.0071	0	.	.	.	0.598	0.07999	T	0.001	0.07471	B	0.002	0.06944	B	0.018726	0.27416	N	0.427988	0.938035	0.26874	N	0.235	0.09667	N	3.27	0.06602	T	.	.	.	0.087	0.06454	-0.9809	0.34794	T	0.015	0.06090	T	8	0.0029939413	0.00049	T	.	.	.	0.054	0.15330	.	.	0.478680857624	0.47498	0.16599929938485064	0.16519	0.116003131437	0.13085	0.297199904919	0.09984	T	0.018995	0.15211	T	-0.747621	0.00018	T	-0.822308	0.01406	T	0.00396790328671601	0.00042	T	0.533547	0.17787	T	0.011963961	0.00025	0.02275557	0.00294	0.011963961	0.00025	0.02275557	0.00294	-4.544	0.31460	T	.	.	0.064	0.01645	B	.	.	1.058423	0.14402	10.98	0.96074164088604286	0.28632	0.53292	0.29336	D	AEFBI	0.071149	0.14154	N	-0.57705361791642	0.19644	1.029658	-0.453879567364334	0.23439	1.278236	0.992734040216211	0.32949	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.34	2.83	0.32150	-0.013000	0.12615	0.105000	0.14702	-0.115000	0.14600	0.876000	0.30908	0.982000	0.30508	0.240000	0.23001	0.1904:0.241:0.1255:0.4431	0.773	0.00962	723	0.55174	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.005051	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	633.33	33	chr6	129629396	.	T	C	633.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.656;DP=674;ExcessHet=0;FS=0.995;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.73;ReadPosRankSum=0.592;SOR=0.544	GT:AD:DP:GQ:PL	0/1:31,28:59:99:647,0,680	18	0	1	0
chr6	138430880	138430880	C	A	exonic	NHSL1	.	nonsynonymous SNV	NHSL1:NM_020464:exon5:c.G3477T:p.E1159D,NHSL1:NM_001144060:exon6:c.G3465T:p.E1155D	.	423	1098	1	0	0	1	0.000455166	.	.	.	3994346	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.089	0.033522833198	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1207830849	7.863e-06	7.524e-06	8.462e-06	7.246e-06	9.269e-06	4.22e-06	3.08e-06	4.69e-06	3.42e-06	0	0	0	0	0	0	9.269e-06	1.724e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.44358	D	0.433	0.14075	T	0.991	0.64070	D	0.801	0.58220	P	0.245910	0.15612	N	0.572575	0.999252	0.21449	N	2.485	0.72352	M	0.71	0.51228	T	-1.67	0.39887	N	0.025	0.02366	-0.9956	0.31136	T	0.122	0.42378	T	10	0.11917323	0.22547	T	0.033523	0.55044	D	0.089	0.25827	0.15	0.05339	0.0551355673512	0.04727	0.1217163071605	0.12098	.	.	0.47269308567	0.35050	T	0.007659	0.07052	T	-0.249554	0.14152	T	-0.580757	0.14478	T	0.252876456004054	0.23001	T	0.680232	0.28883	T	0.13434438	0.31216	0.11172562	0.26952	0.13434438	0.31216	0.11172562	0.26951	-3.887	0.22107	T	.	.	0.176	0.38516	B	.;.	.;.	2.035830	0.25873	16.92	0.98450445329992065	0.41620	0.92056	0.54847	D	AEFDBHIJ	0.222482	0.34697	N	-0.102452197503099	0.37285	2.167077	-0.12731522435682	0.34294	1.971012	0.999999010463499	0.74766	0.706548	0.73137	0	0.54472	0.11627	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.63	4.63	0.57175	1.074000	0.30315	7.531000	0.59918	0.599000	0.40250	0.264000	0.24988	1.000000	0.68203	0.091000	0.17840	0.0:1.0:0.0:0.0	15.660	0.76937	892	0.26670	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1804.33	40	chr6	138430880	.	C	A	1804.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.392;DP=763;ExcessHet=0;FS=2.264;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.77;ReadPosRankSum=-1.541;SOR=0.952	GT:AD:DP:GQ:PL	0/1:67,64:131:99:1818,0,1991	18	0	1	0
chr6	138912809	138912809	C	T	exonic	REPS1	.	nonsynonymous SNV	REPS1:NM_001286612:exon13:c.G1654A:p.D552N,REPS1:NM_001128617:exon15:c.G1846A:p.D616N,REPS1:NM_001286611:exon16:c.G1927A:p.D643N,REPS1:NM_031922:exon16:c.G1924A:p.D642N	.	439	1063	18	2	0	22	0.0102421	.	.	.	626157	Neurodegeneration_with_brain_iron_accumulation_7|not_specified|not_provided	MONDO:MONDO:0054763,MedGen:C4693583,OMIM:617916|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.134	0.00584594839477	0.0008	0.000399361	0.0010	0.0002	0.0008	0	0	0.0013	0.0044	0.0015	0.0009379	145	154602	rs140387177	0.0009	0.0009	0.0008	0.0010	0.0208	0.0008	0.0008	0.0178	0.0166	0.0011	0.0008	0.0020	0	0	0.0208	0.0007	0.0021	0.0017	0.0007	0.0007	0.0007	0.0007	0.0014	0.0006	0.0005	0.0009	0.0008	0.0002	0	0.0014	0.0026	0	0	0.0238	0.0006	0.0043	0.0012	0.005	0.63226	D	0.271	0.22291	T	0.059	0.64738	B	0.005	0.52463	B	0.000880	0.41335	D	0.270973	0.62933	0.32775	D	0	0.06538	N	1.46	0.32482	T	-0.39	0.13805	N	0.308	0.34767	-1.0977	0.04380	T	0.036	0.15465	T	10	0.010942996	0.00241	T	0.005846	0.15191	T	0.134	0.36365	.	.	0.360112713275	0.35619	0.11333632972681876	0.11261	0.249247192868	0.27497	0.488500058651	0.37230	T	0.010284	0.16191	T	-0.586622	0.00176	T	-0.628649	0.10516	T	0.0270770312247092	0.01555	T	0.948305	0.80045	D	0.09572074	0.22533	0.06060335	0.11566	0.112206236	0.26509	0.06677537	0.13724	-3.428	0.16361	T	0.10115356141937344	0.07544	0.082	0.18122	B	.;.;.;.;.;.	.;.;.;.;.;.	4.819928	0.78497	26.9	0.99854476823934191	0.93368	0.96974	0.71966	D	AEFBI	0.663323	0.63288	D	0.0659778328615646	0.44882	2.75418	0.282463158926441	0.54516	3.616317	0.999929269205257	0.46280	0.722319	0.85440	0	0.698795	0.70079	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	6.07	6.07	0.98675	4.965000	0.63418	7.709000	0.66702	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.9239:0.0:0.0761	14.220	0.65367	919	0.19497	.;.;.;.;.;.	.	.	.	.	.	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	0.010070	0.020202	0.010870	0.020468	0.000000	0.017241	0.003049	0.000000	0.05263	3761.83	34	chr6	138912809	.	C	T	3761.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.511;DP=896;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=0.598;SOR=0.672	GT:AD:DP:GQ:PL	0/1:65,73:138:99:1918,0,1592	17	0	2	0
chr6	139260350	139260350	C	G	exonic	TXLNB	.	nonsynonymous SNV	TXLNB:NM_153235:exon6:c.G970C:p.A324P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.171	0.0689146906835	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.414e-05	0.0014	2.335e-05	2.493e-05	2.905e-05	1.753e-05	1.551e-05	2.102e-05	1.799e-05	0	0	0	0	0	0	2.905e-05	5.001e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.016	0.60972	D	1.0	0.90584	D	0.993	0.81110	D	0.000161	0.48594	D	0.239684	0.993403	0.41929	D	2.87	0.83286	M	1.4	0.33630	T	-3.94	0.73378	D	0.574	0.59648	-0.7017	0.60357	T	0.226	0.59007	T	9	0.5885002	0.66246	D	0.068915	0.70584	D	0.180	0.45073	0.379	0.39482	0.487843537783	0.48417	0.6358683035212012	0.63520	0.487470984321	0.47571	0.614733815193	0.54985	T	0.130152	0.45887	T	-0.0622442	0.42556	T	-0.327186	0.41782	T	0.988551318645477	0.78871	D	0.954105	0.82551	D	0.80467975	0.84206	0.7539932	0.85461	0.80467975	0.84208	0.7539932	0.85462	-11.507	0.82367	D	.	.	0.992	0.94200	P	.	.	4.344429	0.66670	25.0	0.99736542846510523	0.83192	0.92875	0.56761	D	AEFBI	0.833676	0.75185	D	0.181533041624392	0.50311	3.222455	0.199449637892681	0.49817	3.180493	0.00178874494565809	0.08881	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.64	3.81	0.43020	2.013000	0.40561	4.856000	0.45423	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.944000	0.48669	0.137:0.7928:0.0:0.0702	10.209	0.42307	536	0.73233	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	42.72	33	chr6	139260350	.	C	G	42.72	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-2.256;DP=843;ExcessHet=0;FS=175.727;InbreedingCoeff=-0.0418;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=0.76;ReadPosRankSum=1.4;SOR=7.784	GT:AD:DP:GQ:PL	0/1:39,17:58:56:56,0,543	17	0	1	1
chr6	154411047	154411047	T	C	exonic	CNKSR3	.	nonsynonymous SNV	CNKSR3:NM_001368119:exon8:c.A641G:p.D214G,CNKSR3:NM_001368116:exon11:c.A1184G:p.D395G,CNKSR3:NM_001368117:exon11:c.A1166G:p.D389G,CNKSR3:NM_001368118:exon11:c.A926G:p.D309G,CNKSR3:NM_173515:exon11:c.A1166G:p.D389G	.	421	1085	15	1	0	17	0.00777321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.692	0.0755041145947	.	0.00159744	0.0007	0	0.0002	0	0	7.497e-05	0	0.0050	0.0006598	102	154602	rs563154236	0.0003	0.0003	0.0002	0.0004	0.0037	0.0003	0.0003	0.0034	0.0033	0	0.0001	7.652e-05	0	0	0.0028	7.734e-05	0.0004	0.0037	0.0002	0.0002	0.0001	0.0003	0.0048	0.0001	0.0001	0.0033	0.0028	0	0	0.0002	0	0	0	0.0034	5.882e-05	0	0.0048	0.001	0.78490	D	0.026	0.55759	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999899	0.50595	D	2.98	0.85499	M	0.2	0.60111	T	-5.6	0.89029	D	0.922	0.92550	-0.4090	0.71742	T	0.301	0.67186	T	10	0.026248097	0.00796	T	0.075504	0.72303	D	0.692	0.88820	.	.	0.745894655361	0.74360	0.558904291668527	0.55817	1.06557170257	0.76617	0.626045227051	0.56584	T	0.38968	0.75004	T	0.0126533	0.53386	T	0.243926	0.85333	D	0.154824153246135	0.17481	T	0.957004	0.95129	D	0.87442106	0.89214	0.89336336	0.94506	0.87442106	0.89216	0.89336336	0.94506	-5.566	0.42481	T	.	.	0.885	0.82079	P	.;.;.	.;.;.	5.278628	0.88632	29.7	0.99863363797707139	0.94184	0.90582	0.51878	D	AEFDGBCIJ	0.951105	0.96535	D	0.787104580229195	0.85293	8.532692	0.779997393179391	0.88369	9.556537	0.999999999999954	0.74766	0.562547	0.31514	0	0.610034	0.51514	0	0.608884	0.39905	0	0.466023	0.07079	0	.	.	5.72	5.72	0.89380	7.621000	0.82276	7.906000	0.73790	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	16.006	0.80156	823	0.40596	Connector enhancer of kinase suppressor of ras 2;.;Connector enhancer of kinase suppressor of ras 2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005539	0.005051	0.000000	0.008772	0.000000	0.000000	0.012195	0.003788	0.02632	1794.33	34	chr6	154411047	.	T	C	1794.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.703;DP=788;ExcessHet=0;FS=1.297;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.21;ReadPosRankSum=0.922;SOR=0.568	GT:AD:DP:GQ:PL	0/1:73,74:147:99:1808,0,1791	18	0	1	0
chr6	155314317	155314317	G	A	exonic	TFB1M	.	nonsynonymous SNV	TFB1M:NM_001350501:exon1:c.C112T:p.L38F,TFB1M:NM_016020:exon1:c.C112T:p.L38F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.416	0.0168240580187	.	.	8.499e-06	0.0001	0	0	0	0	0	0	6.5e-06	1	154602	rs140558606	6.841e-07	6.84e-07	0	1.375e-06	1.16e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.16e-05	1.969e-05	1.968e-05	2.568e-05	1.342e-05	7.213e-05	5.23e-06	2.45e-06	1.912e-05	1.03e-05	7.213e-05	0	0	0	0	0	0	0	0	0	0.003	0.68238	D	0.006	0.70582	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	4.96	0.99835	H	0.79	0.49068	T	-3.71	0.70674	D	0.72	0.72209	-0.1324	0.79345	T	0.361	0.72277	T	10	0.8530372	0.84489	D	0.016824	0.38254	T	0.416	0.72631	0.775	0.90080	0.72133838672	0.71888	0.8554977536275452	0.85512	0.450744263737	0.44841	0.602550506592	0.53265	T	0.281805	0.65454	T	0.0245627	0.54995	T	-0.0209659	0.68966	D	0.960970222949982	0.65950	D	0.965203	0.87125	D	0.9606156	0.97343	0.9078232	0.95533	0.9606156	0.97343	0.9078232	0.95534	-11.763	0.83677	D	.	.	0.815	0.77993	P	.	.	5.593627	0.92403	32	0.99876907393618108	0.95410	0.81684	0.41038	D	ALL	0.572053	0.57579	D	0.98318833867216	0.95205	13.40281	0.888933583647588	0.95070	13.28642	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.81	4.89	0.63387	5.064000	0.64169	11.617000	0.93589	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.073:0.0:0.7871:0.1399	10.042	0.41337	970	0.06235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2849.33	33	chr6	155314317	.	G	A	2849.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.16;DP=899;ExcessHet=0;FS=1.049;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.07;ReadPosRankSum=1.59;SOR=0.804	GT:AD:DP:GQ:PL	0/1:108,110:218:99:2863,0,2767	18	0	1	0
chr6	170561952	170561952	A	0	exonic	TBP	.	.	.	Spinocerebellar ataxia 17, Autosomal dominant	48	390	47	5	1032	1089	0.0681004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8158	949.0	153	chr6	170561952	.	A	*	949.0	.	AC=31;AF=0.816;AN=38;DP=3440;ExcessHet=2.0135;FS=1.339;InbreedingCoeff=-0.1874;MLEAC=31;MLEAF=0.816;MQ=60;MQRankSum=0;QD=0.66;ReadPosRankSum=3.29;SOR=0.564	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:1,57:58:99:1|1:170561949_GCAA_G:2410,136,0:170561949	0	12	7	0
chr6	170561964	170561964	G	0	exonic	TBP	.	.	.	Spinocerebellar ataxia 17, Autosomal dominant	68	560	433	93	368	987	0.355952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5278	9626.11	127	chr6	170561964	.	G	*	9626.11	.	AC=19;AF=0.528;AN=36;BaseQRankSum=-1.99;DP=3235;ExcessHet=0.2833;FS=3.053;InbreedingCoeff=0.0877;MLEAC=20;MLEAF=0.556;MQ=59.95;MQRankSum=0;QD=5.61;ReadPosRankSum=2.3;SOR=0.516	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,98:98:99:1|1:170561949_GCAA_G:4309,300,0:170561949	5	6	7	1
chr6	170561967	170561967	G	0	exonic	TBP	.	.	.	Spinocerebellar ataxia 17, Autosomal dominant	46	879	60	4	533	601	0.0372399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4737	2380.05	128	chr6	170561967	.	G	*	2380.05	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.939;DP=2816;ExcessHet=1.9883;FS=1.746;InbreedingCoeff=-0.0556;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=1.87;ReadPosRankSum=2.34;SOR=0.583	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,57:58:99:1|1:170561949_GCAA_G:4308,299,0:170561949	6	5	8	0
chr7	1153124	1153124	T	C	exonic	ZFAND2A	.	nonsynonymous SNV	ZFAND2A:NM_001365381:exon5:c.A290G:p.H97R,ZFAND2A:NM_001365383:exon5:c.A383G:p.H128R,ZFAND2A:NM_182491:exon5:c.A383G:p.H128R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.150	0.0898503622494	.	0.000199681	0.0004	0	0	0	0	0	0	0.0027	0.0003105	48	154602	rs574864193	0.0002	0.0002	0.0001	0.0003	0.0034	0.0002	0.0002	0.0031	0.0029	0	0	0	2.519e-05	0	0.0002	0	0.0002	0.0034	6.565e-05	6.561e-05	2.57e-05	0.0001	0.0021	3.514e-05	2.614e-05	0.0011	0.0009	0	0	0	0	0	0	0	0	0	0.0021	0.002	0.72154	D	0.021	0.58089	D	0.999	0.77913	D	0.992	0.80445	D	.	.	.	.	1	0.81001	D	2.97	0.85306	M	0.98	0.42122	T	-7.01	0.93764	D	0.508	0.53972	-0.6455	0.62909	T	0.204	0.56114	T	9	0.026001334	0.00778	T	0.08985	0.75405	D	0.340	0.66202	0.561	0.68093	0.426670027402	0.42282	0.19224861245122402	0.19142	0.0511485948996	0.05630	0.531048297882	0.43182	T	0.262154	0.85334	T	-0.255729	0.13405	T	-0.143164	0.59842	T	0.312739883445302	0.25526	T	0.955704	0.83186	D	0.6359655	0.74616	0.60556096	0.77071	0.6359655	0.74617	0.60556096	0.77072	-14.867	0.95533	D	.	.	0.691	0.72606	P	.;.	.;.	4.098041	0.61082	24.3	0.99773966407061054	0.86174	0.91386	0.53429	D	AEFDBCI	0.478412	0.52099	N	0.205438750767469	0.51462	3.327264	0.225263740971697	0.51252	3.309461	0.999998566931739	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.9	4.9	0.63643	5.321000	0.65627	4.743000	0.44617	0.663000	0.56723	1.000000	0.71638	1.000000	0.68203	0.792000	0.37394	0.0:0.0:0.0:1.0	12.485	0.55205	895	0.25842	Zinc finger, AN1-type|Zinc finger, AN1-type|Zinc finger, AN1-type;Zinc finger, AN1-type|Zinc finger, AN1-type|Zinc finger, AN1-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	.	.	.	.	.	.	.	.	0.05263	4926.81	41	chr7	1153124	.	T	C	4926.81	.	AC=2;AF=0.053;AN=38;DP=891;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=29.33;SOR=1.145	GT:AD:DP:GQ:PL	1/1:0,168:168:99:4954,504,0	18	1	0	0
chr7	2542173	2542173	A	C	exonic	BRAT1	.	nonsynonymous SNV	BRAT1:NM_001350627:exon6:c.T437G:p.L146R,BRAT1:NM_001350626:exon7:c.T962G:p.L321R,BRAT1:NM_152743:exon7:c.T962G:p.L321R	Rigidity and multifocal seizure syndrome, lethal neonatal, Autosomal recessive	0	1491	30	1	0	32	0.0106171	.	.	YES	363971	Neonatal-onset_encephalopathy_with_rigidity_and_seizures|Neurodevelopmental_disorder_with_cerebellar_atrophy_and_with_or_without_seizures|not_provided|BRAT1-related_disorder	MONDO:MONDO:0013784,MedGen:C3281029,OMIM:614498,Orphanet:435845|MONDO:MONDO:0020841,MedGen:C4748032,OMIM:618056|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.799	.	0.0048	0.00339457	0.0103	0.0007	0.0094	0	0.0166	0.0155	0.0045	0.0080	0.0036675	567	154602	rs150942467	0.0086	0.0085	0.0086	0.0086	0.0096	0.0084	0.0084	0.0095	0.0094	0.0010	0.0039	0.0037	0	0.0086	0.0077	0.0096	0.0070	0.0062	0.0066	0.0066	0.0069	0.0063	0.0093	0.0062	0.0061	0.0087	0.0085	0.0016	0.0318	0.0077	0.0032	0	0.0106	0.0103	0.0093	0.0057	0.0037	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.495	0.72670	M	-0.87	0.74583	T	-4.3	0.76496	D	0.924	0.92784	0.084	0.83888	D	0.472	0.79695	T	10	0.020496815	0.00473	T	.	.	.	0.799	0.93425	.	.	0.779192970331	0.77716	0.8486993657309405	0.84830	0.354304652269	0.37210	0.496233224869	0.38303	T	0.137523	0.47051	T	-0.00844316	0.50484	T	0.221493	0.84252	D	0.0193440535127068	0.00639	T	0.782722	0.41876	T	0.79226124	0.83415	0.7237451	0.83684	0.79226124	0.83416	0.7237451	0.83685	-10.099	0.74502	D	0.8584731998218259	0.92261	0.351	0.56664	A	.	.	4.518106	0.70818	25.6	0.99772560332094673	0.86003	0.95447	0.64757	D	AEFGBCI	0.563647	0.57076	D	0.654033638201833	0.76632	6.522163	0.608210816914051	0.75533	6.327763	0.997020771789545	0.35208	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.42	5.42	0.78666	2.391000	0.44078	11.059000	0.85411	0.751000	0.87719	0.963000	0.33788	1.000000	0.68203	0.788000	0.37229	1.0:0.0:0.0:0.0	14.012	0.64019	946	0.12043	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.008089	0.000000	0.013699	0.005988	0.000000	0.000000	0.018293	0.003788	0.05263	4751.81	39	chr7	2542173	.	A	C	4751.81	.	AC=2;AF=0.053;AN=38;DP=832;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.07;SOR=1.008	GT:AD:DP:GQ:PL	1/1:0,158:158:99:4779,474,0	18	1	0	0
chr7	6583386	6583386	T	C	exonic	ZDHHC4	.	nonsynonymous SNV	ZDHHC4:NM_001371293:exon5:c.T451C:p.C151R,ZDHHC4:NM_001371298:exon5:c.T391C:p.C131R,ZDHHC4:NM_001134387:exon6:c.T451C:p.C151R,ZDHHC4:NM_001134389:exon6:c.T451C:p.C151R,ZDHHC4:NM_001371292:exon6:c.T451C:p.C151R,ZDHHC4:NM_001371296:exon6:c.T451C:p.C151R,ZDHHC4:NM_001371297:exon6:c.T451C:p.C151R,ZDHHC4:NM_001371299:exon6:c.T451C:p.C151R,ZDHHC4:NM_018106:exon6:c.T451C:p.C151R,ZDHHC4:NM_001134388:exon7:c.T451C:p.C151R,ZDHHC4:NM_001371294:exon7:c.T451C:p.C151R,ZDHHC4:NM_001371295:exon7:c.T451C:p.C151R	.	432	1079	11	0	0	11	0.00507146	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.614	.	0.0078	0.00279553	0.0051	0.0012	0.0036	0	0.0029	0.0076	0.0011	0.0026	0.0056274	870	154602	rs144937586	0.0080	0.0081	0.0083	0.0078	0.0094	0.0079	0.0079	0.0093	0.0092	0.0011	0.0025	0.0109	2.52e-05	0.0029	0.0057	0.0094	0.0071	0.0028	0.0056	0.0056	0.0058	0.0054	0.0089	0.0053	0.0052	0.0083	0.0081	0.0017	0.0285	0.0043	0.0115	0	0.0023	0	0.0089	0.0057	0.0021	0.0	0.91255	D	0.002	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	5.05	0.99895	H	0.39	0.86010	T	-11.0	0.99399	D	0.978	0.99611	0.814	0.94584	D	0.813	0.93690	D	10	0.027118385	0.00863	T	.	.	.	0.614	0.84932	.	.	0.945805394361	0.94524	0.9826998763058142	0.98261	0.403258950643	0.41270	0.667209327221	0.62439	T	0.379432	0.74219	T	-0.129121	0.31639	T	0.0521385	0.73725	D	0.146796232529743	0.16845	T	0.690631	0.30012	T	0.9589247	0.97171	0.929022	0.97027	0.9589247	0.97172	0.929022	0.97028	-9.559	0.71226	D	.	.	0.848	0.82688	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.626628	0.73518	26.0	0.99693707556912481	0.80112	0.99358	0.94979	D	AEFBI	0.952257	0.96756	D	0.799268391164261	0.86061	8.765888	0.637258878546838	0.77663	6.723262	0.999998400705788	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.09	5.09	0.68647	7.303000	0.78192	.	.	0.656000	0.54149	1.000000	0.71638	1.000000	0.68203	0.708000	0.34389	0.0:0.0:0.0:1.0	13.111	0.58686	858	0.34001	Palmitoyltransferase, DHHC domain;Palmitoyltransferase, DHHC domain;Palmitoyltransferase, DHHC domain;Palmitoyltransferase, DHHC domain;Palmitoyltransferase, DHHC domain;.;Palmitoyltransferase, DHHC domain	.	.	.	.	rs144937586	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.002717	0.002924	0.000000	0.008621	0.006098	0.000000	0.05263	3493.81	33	chr7	6583386	.	T	C	3493.81	.	AC=2;AF=0.053;AN=38;DP=772;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=29.36;SOR=0.932	GT:AD:DP:GQ:PL	1/1:0,119:119:99:3521,357,0	18	1	0	0
chr7	17339293	17339293	A	G	exonic	AHR	.	nonsynonymous SNV	AHR:NM_001621:exon10:c.A1468G:p.M490V	.	417	1061	44	0	0	44	0.0203139	.	.	.	1155650	AHR-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.009	0.00592794406859	0.0010	0.00139776	0.0019	0.0005	0.0038	0.0002	0	0.0023	0.0044	0.0010	0.0017852	276	154602	rs61755968	0.0015	0.0015	0.0015	0.0016	0.0333	0.0015	0.0014	0.0294	0.0280	0.0014	0.0044	0.0103	2.519e-05	1.872e-05	0.0333	0.0011	0.0035	0.0013	0.0018	0.0018	0.0020	0.0015	0.0043	0.0016	0.0015	0.0034	0.0031	0.0004	0	0.0043	0.0089	0	0	0.0680	0.0017	0.0061	0.0010	0.686	0.04353	T	0.479	0.11933	T	0.0	0.02946	B	0.001	0.04355	B	0.386539	0.04452	N	1.295330	1	0.08975	N	-0.805	0.01590	N	3.6	0.04494	T	-0.26	0.11185	N	0.022	0.00372	-0.9222	0.45252	T	0.004	0.01470	T	10	0.003658086	0.00067	T	0.005928	0.15460	T	0.009	0.00846	.	.	0.204265027416	0.20035	0.17086664397383802	0.17006	0.114153396927	0.12873	0.218387007713	0.01219	T	0.085885	0.37601	T	-0.77272	0.00012	T	-0.877045	0.00679	T	0.00502727211406991	0.00054	T	0.260774	0.04184	T	0.0338362	0.03680	0.029485425	0.01292	0.0338362	0.03680	0.029485425	0.01292	-2.536	0.06032	T	.	.	0.052	0.00361	B	.;.;.	.;.;.	-1.957283	0.00111	0.002	0.38163772742654201	0.02558	0.05044	0.10831	N	AEFDGBHCI	0.047190	0.07918	N	-1.65382777947741	0.01019	0.04417788	-1.71530635961718	0.01071	0.04809935	0.99999999992978	0.74766	0.741895	0.98168	0	0.724815	0.89359	0	0.658983	0.55881	0	0.725737	0.93299	0	.	.	5.8	-9.3	0.00551	-0.989000	0.03846	-6.376000	0.01416	-0.065000	0.16512	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.3884:0.2679:0.3437:0.0	9.114	0.35907	812	0.42537	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.030715	0.020202	0.020380	0.093567	0.000000	0.025862	0.012195	0.015152	0.05263	4035.83	33	chr7	17339293	.	A	G	4035.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.87;DP=884;ExcessHet=0.119;FS=10.925;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.73;ReadPosRankSum=1.34;SOR=1.052	GT:AD:DP:GQ:PL	0/1:61,67:128:99:1873,0,1707	17	0	2	0
chr7	20158698	20158698	C	A	exonic	MACC1	.	nonsynonymous SNV	MACC1:NM_182762:exon5:c.G1663T:p.V555L	.	437	1076	9	0	0	9	0.00416474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	.	0.0063	0.00698882	0.0023	0.0198	0.0019	0	0.0005	0.0007	0.0011	0.0002	0.0022703	351	154602	rs34476934	0.0012	0.0012	0.0013	0.0011	0.0195	0.0011	0.0011	0.0183	0.0178	0.0195	0.0019	3.828e-05	5.04e-05	0.0002	0.0158	0.0007	0.0025	0.0004	0.0060	0.0060	0.0060	0.0060	0.0195	0.0057	0.0056	0.0184	0.0180	0.0195	0	0.0035	0	0.0002	0.0004	0.0204	0.0004	0.0047	0.0002	0.236	0.17940	T	0.28	0.21678	T	0.797	0.44809	P	0.453	0.46205	P	0.000000	0.84330	D	0.053166	0.999998	0.58761	D	1.81	0.47622	L	2.93	0.09822	T	-1.51	0.36787	N	0.467	0.50868	-1.1228	0.02162	T	0.021	0.08639	T	10	0.007229477	0.00164	T	.	.	.	0.119	0.33137	0.358	0.36060	0.330069100803	0.32608	0.4445489742465957	0.44372	0.0401084390643	0.04292	0.365905284882	0.20243	T	0.016019	0.13326	T	-0.575668	0.00205	T	-0.582098	0.14359	T	0.0214443864775538	0.00847	T	0.693931	0.30359	T	0.15606171	0.35237	0.16399838	0.38014	0.15606171	0.35237	0.16399838	0.38013	-6.495	0.50248	T	.	.	0.244	0.49893	B	.;.;.	.;.;.	1.739059	0.22131	15.49	0.96619238798312734	0.30473	0.74214	0.36302	D	AEFDGBHCI	0.514073	0.54160	D	0.0042814080960758	0.42049	2.526362	-0.0410270374019628	0.37882	2.224042	0.99999997014434	0.74766	0.566229	0.32551	0	0.615513	0.52658	0	0.658983	0.55881	0	0.665031	0.64506	0	.	.	5.81	4.94	0.64645	1.109000	0.30749	-0.074000	0.12261	0.599000	0.40250	0.394000	0.26121	0.000000	0.08366	0.412000	0.27050	0.0:0.8607:0.0:0.1393	11.944	0.52203	845	0.36510	SH3 domain;SH3 domain;SH3 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.020202	0.019022	0.038012	0.050000	0.025862	0.003049	0.000000	0.05263	5188.81	33	chr7	20158698	.	C	A	5188.81	.	AC=2;AF=0.053;AN=38;DP=778;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=32.63;SOR=1.022	GT:AD:DP:GQ:PL	1/1:0,159:159:99:5216,477,0	18	1	0	0
chr7	26185497	26185497	T	C	exonic	NFE2L3	.	nonsynonymous SNV	NFE2L3:NM_004289:exon4:c.T1799C:p.L600S	.	429	1088	5	0	0	5	0.00229253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.878	0.380588506181	.	.	0.0001	9.634e-05	0	0	0	0.0003	0	0	0.0001682	26	154602	rs201193253	0.0002	0.0002	0.0001	0.0002	0.0068	0.0001	0.0001	0.0051	0.0045	0.0009	0.0002	3.827e-05	0	0	0.0068	9.264e-05	0.0007	2.319e-05	0.0002	0.0002	0.0001	0.0002	0.0007	0.0001	9.695e-05	0.0004	0.0003	7.218e-05	0	0.0007	0	0	0	0.0034	0.0001	0.0005	0	0.0	0.91255	D	0.001	0.83351	D	0.999	0.77913	D	0.973	0.72923	D	0.000024	0.55875	D	0.068748	0.999996	0.58761	D	3.205	0.89189	M	-3.16	0.92996	D	-5.45	0.85468	D	0.8	0.79599	1.033	0.97776	D	0.907	0.96906	D	10	0.9222318	0.91576	D	0.380589	0.92962	D	0.878	0.96391	.	.	0.9806713165	0.98045	0.7101372826163026	0.70955	0.00149504526027	0.00125	0.537696540356	0.44120	T	0.905708	0.98185	D	0.16052	0.70249	D	0.252479	0.85737	D	0.834231734275818	0.48863	D	0.886711	0.61387	D	0.883728	0.89976	0.8674998	0.92694	0.883728	0.89978	0.8674998	0.92694	-14.084	0.93326	D	.	.	0.866	0.80637	P	.	.	4.817783	0.78441	26.9	0.99864602292857774	0.94276	0.15873	0.19122	N	AEFDGBHCI	0.906109	0.85846	D	0.901294316490547	0.91824	11.08349	0.850617205461235	0.93051	11.79424	1.0	0.98316	0.78354	0.99714	0	0.827368	0.99789	0	0.643519	0.47002	0	0.741806	0.99463	0	.	.	5.71	5.71	0.89031	7.991000	0.87898	5.055000	0.47034	0.605000	0.46263	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.0:1.0	15.652	0.76863	747	0.52260	Basic leucine zipper domain, Maf-type|Basic-leucine zipper domain|Basic-leucine zipper domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006729	0.005376	0.012228	0.006211	0.000000	0.008621	0.000000	0.000000	0.05263	3371.83	35	chr7	26185497	.	T	C	3371.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-2.369;DP=873;ExcessHet=0.119;FS=2.776;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=59.74;MQRankSum=1.14;QD=13.43;ReadPosRankSum=0.521;SOR=0.542	GT:AD:DP:GQ:PL	0/1:53,67:120:99:1674,0,1504	17	0	2	0
chr7	27094575	27094578	ACCC	-	exonic	HOXA1	.	frameshift deletion	HOXA1:NM_005522:exon2:c.870_873del:p.E290Dfs*41	Athabaskan brainstem dysgenesis syndrome;Bosley-Salih-Alorainy syndrome	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	1845.33	33	chr7	27094574	.	GACCC	G	1845.33	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-1.915;DP=1478;ExcessHet=1.3;FS=134.511;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=2.01;ReadPosRankSum=1.51;SOR=10.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:147,36:183:99:0|1:27094574_GACCC_G:534,0,5688:27094574	14	0	5	0
chr7	27094578	27094578	-	GGGG	exonic	HOXA1	.	frameshift insertion	HOXA1:NM_005522:exon2:c.869_870insCCCC:p.E290Dfs*128	Athabaskan brainstem dysgenesis syndrome;Bosley-Salih-Alorainy syndrome	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	1783.33	33	chr7	27094578	.	C	CGGGG	1783.33	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-2.156;DP=1454;ExcessHet=1.3;FS=134.511;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=1.96;ReadPosRankSum=2.06;SOR=10.341	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:145,35:180:99:0|1:27094574_GACCC_G:533,0,5635:27094574	14	0	5	0
chr7	35670301	35670301	C	T	exonic	HERPUD2	.	nonsynonymous SNV	HERPUD2:NM_022373:exon4:c.G253A:p.V85I	.	.	.	.	.	.	.	.	.	.	.	3685617	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.266	0.027791912928	.	.	4.962e-05	0	0	0	0	7.517e-05	0	6.083e-05	3.88e-05	6	154602	rs200034926	4.348e-05	4.379e-05	3.264e-05	5.443e-05	0.0032	3.449e-05	3.127e-05	0.0021	0.0017	0	0	0.0006	0	0	0.0032	1.77e-05	3.454e-05	7.669e-05	6.742e-05	6.585e-05	2.621e-05	0.0001	0.0002	3.603e-05	2.779e-05	2.87e-05	1.875e-05	0	0	0	0.0009	0	0	0	7.432e-05	0.0005	0.0002	0.0	0.91255	D	0.0	0.92824	D	0.992	0.64738	D	0.847	0.60522	P	0.000000	0.84330	D	0.000000	0.999969	0.52935	D	3.415	0.91848	M	0.71	0.51228	T	-0.88	0.23808	N	0.593	0.61256	-0.3971	0.72119	T	0.292	0.66345	T	10	0.29030365	0.46611	T	0.027792	0.50556	D	0.266	0.57999	0.529	0.63560	0.533107066423	0.52960	0.3903813813631027	0.38953	0.8332888416	0.67718	0.55125772953	0.46035	T	0.095948	0.39724	T	-0.118428	0.33381	T	-0.213581	0.53351	T	0.866503715515137	0.51656	D	0.957504	0.83996	D	0.48549652	0.66233	0.3986034	0.64445	0.48549652	0.66233	0.3986034	0.64445	-9.748	0.72389	D	.	.	0.462	0.62816	A	.;.;.	.;.;.	5.307126	0.89095	29.9	0.99795493169791505	0.88106	0.96274	0.68342	D	AEFGBI	0.506656	0.53729	D	0.541710682719764	0.69579	5.377014	0.46765619445246	0.65859	4.877239	0.970643288197046	0.29223	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.66	3.84	0.43422	5.406000	0.66100	7.627000	0.62562	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.2596:0.7404:0.0:0.0	15.057	0.71588	752	0.51611	Ubiquitin domain|Ubiquitin domain;Ubiquitin domain|Ubiquitin domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003024	0.005051	0.001359	0.008772	0.000000	0.008621	0.000000	0.000000	0.05263	2353.81	37	chr7	35670301	.	C	T	2353.81	.	AC=2;AF=0.053;AN=38;DP=751;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.38;SOR=1.022	GT:AD:DP:GQ:PL	1/1:0,75:75:99:2381,225,0	18	1	0	0
chr7	39339688	39339688	-	CAGCAG	exonic	POU6F2	.	nonframeshift insertion	POU6F2:NM_001370959:exon5:c.645_646insCAGCAG:p.Q225_P226insQQ,POU6F2:NM_001166018:exon6:c.558_559insCAGCAG:p.Q196_P197insQQ,POU6F2:NM_007252:exon6:c.558_559insCAGCAG:p.Q196_P197insQQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0	0.0042	0	0	2.07e-05	0.0017	0.0056	3.84e-05	1	26028	rs758469863	0.0004	0.0004	0.0003	0.0005	0.0042	0.0004	0.0004	0.0038	0.0037	3.001e-05	0.0033	0	5.063e-05	2.197e-05	0.0002	4.154e-05	0.0004	0.0042	0.0003	0.0003	9.039e-05	0.0004	0.0042	0.0002	0.0002	0.0028	0.0023	0	0	0.0011	0	0	0	0	2.952e-05	0	0.0042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	3541.77	33	chr7	39339688	.	C	CCAGCAG	3541.77	.	AC=2;AF=0.053;AN=38;DP=741;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=29.26;SOR=1.788	GT:AD:DP:GQ:PL	1/1:0,82:82:99:3569,244,0	18	1	0	0
chr7	45085707	45085707	T	G	exonic	NACAD	.	nonsynonymous SNV	NACAD:NM_001146334:exon2:c.A473C:p.Q158P	.	414	1080	27	1	0	29	0.0132481	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	.	.	0.00339457	0.0072	0	0.0039	0.0023	0	0.0002	0.0141	0.0125	0.0008021	124	154602	rs146961641	0.0008	0.0008	0.0005	0.0011	0.0117	0.0008	0.0008	0.0111	0.0108	3.166e-05	0.0003	0.0001	0	0	0.0056	9.177e-05	0.0009	0.0117	0.0006	0.0006	0.0005	0.0007	0.0131	0.0005	0.0004	0.0105	0.0096	0	0	0.0003	0	0.0004	0	0	0.0003	0	0.0131	0.0	0.91255	D	0.142	0.33330	T	0.998	0.73220	D	0.99	0.78936	D	0.192363	0.03259	N	1.864850	0.573069	0.31162	N	1.04	0.26193	L	2.54	0.13916	T	-3.18	0.64478	D	0.362	0.40364	-1.0817	0.07022	T	0.073	0.29610	T	10	0.006570399	0.00149	T	.	.	.	0.126	0.34673	.	.	0.299770980665	0.29595	0.39611227998121523	0.39526	0.00755387287408	0.00669	0.402677625418	0.25441	T	0.106951	0.41873	T	-0.462756	0.00945	T	-0.427106	0.30264	T	0.0999575670946883	0.12353	T	0.571443	0.20372	T	0.6628588	0.76052	0.5540378	0.74209	0.6628588	0.76053	0.5540378	0.74209	-1.594	0.01968	T	.	.	0.110	0.21353	B	.	.	3.708725	0.52937	23.3	0.99210959378101049	0.55594	0.67515	0.33461	D	AEFDBI	0.278194	0.39253	N	0.223830186903498	0.52357	3.410281	0.171268560916696	0.48280	3.046052	0.994651160390646	0.33737	0.695654	0.57023	0	0.59043	0.45803	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	4.4	4.4	0.52402	0.669000	0.24823	4.994000	0.46548	0.665000	0.62972	0.996000	0.39380	1.000000	0.68203	0.888000	0.42677	0.0:0.0:0.0:1.0	9.915	0.40597	721	0.55360	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002918	0.000000	0.000000	0.000000	0.000000	0.000000	0.005155	0.000000	0.05263	3020.81	47	chr7	45085707	.	T	G	3020.81	.	AC=2;AF=0.053;AN=38;DP=846;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.82;SOR=1.014	GT:AD:DP:GQ:PL	1/1:0,98:98:99:3048,293,0	18	1	0	0
chr7	47829596	47829596	G	C	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon44:c.C6564G:p.C2188W	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.00311672116924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.788e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.21467	T	0.184	0.29056	T	0.995	0.67487	D	0.547	0.49095	P	0.460342	0.12399	N	0.747174	0.999995	0.08975	N	1.67	0.42885	L	2.15	0.19311	T	-2.36	0.52128	N	0.296	0.33469	-1.0591	0.11981	T	0.048	0.20672	T	10	0.36171162	0.52784	T	0.003117	0.06786	T	0.080	0.23350	0.552	0.66856	0.273070737957	0.26916	0.2536045200721503	0.25274	0.410098164805	0.41806	0.397005200386	0.24651	T	0.34704	0.71522	T	-0.171564	0.25000	T	-0.484216	0.23999	T	0.452246865480397	0.30879	T	0.463454	0.13490	T	0.08204342	0.18882	0.115264766	0.27824	0.08204342	0.18881	0.115264766	0.27823	-7.376	0.56735	T	0.21312292306990016	0.28611	0.462	0.62816	A	.	.	2.025831	0.25746	16.87	0.98535746284117109	0.42657	0.03107	0.08041	N	AEFDBI	0.085021	0.17234	N	-0.32621816442702	0.28156	1.55065	-0.474339133563733	0.22864	1.243968	0.99995617926297	0.48110	0.516011	0.20929	0	0.59043	0.45803	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	4.21	1.54	0.22290	0.128000	0.15636	1.147000	0.24451	0.676000	0.76740	0.000000	0.06391	0.003000	0.18671	0.870000	0.41412	0.3084:0.0:0.6916:0.0	6.370	0.20682	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3947	4446.21	147	chr7	47829596	.	G	C	4446.21	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-0.867;DP=2277;ExcessHet=25.4433;FS=276.126;InbreedingCoeff=-0.7273;MLEAC=15;MLEAF=0.395;MQ=60;MQRankSum=0;QD=2.54;ReadPosRankSum=0.158;SOR=13.082	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:60,34:94:99:.:.:156,0,1053:.	4	0	15	0
chr7	48103309	48103309	A	G	exonic	UPP1	.	nonsynonymous SNV	UPP1:NM_003364:exon6:c.A334G:p.I112V,UPP1:NM_001287426:exon7:c.A334G:p.I112V,UPP1:NM_001362774:exon7:c.A334G:p.I112V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.0162703173878	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.068e-05	0.0005	4.533e-05	3.607e-05	6.545e-05	3.187e-05	2.855e-05	3.432e-05	3.064e-05	6.545e-05	0	0	0	0	0	4.503e-05	0.0001	1.194e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.561	0.06669	T	0.844	0.03652	T	0.005	0.12996	B	0.013	0.16460	B	0.006375	0.32080	N	0.369553	0.659061	0.48481	D	0.65	0.16133	N	-2.14	0.86415	D	-0.25	0.11008	N	0.335	0.37613	-0.8153	0.54226	T	0.370	0.72932	T	10	0.17066589	0.31743	T	0.01627	0.37444	T	0.137	0.36984	0.393	0.41770	0.494366844524	0.49069	0.6359250264121555	0.63526	0.119767800777	0.13491	0.439313769341	0.30483	T	0.150536	0.55493	T	-0.0746563	0.40579	T	-0.345015	0.39777	T	0.0481831632055793	0.05176	T	0.90391	0.67021	D	0.036912184	0.04632	0.047135282	0.06722	0.036912184	0.04631	0.047135282	0.06722	-7.212	0.55568	T	.	.	0.115	0.22933	B	.;.;.;.	.;.;.;.	1.228969	0.16235	12.41	0.69032023839716439	0.08843	0.30303	0.24048	N	AEFDGBCI	0.037360	0.05126	N	-1.18467389851375	0.05232	0.2380039	-1.17438792066289	0.06340	0.3048925	0.99999892264264	0.74766	0.706548	0.73137	0	0.633656	0.55848	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.43	-4.68	0.03070	1.426000	0.34478	0.250000	0.16416	-0.576000	0.04747	0.702000	0.28645	0.000000	0.08366	0.986000	0.61781	0.426:0.0:0.574:0.0	14.599	0.68020	804	0.43891	Nucleoside phosphorylase domain|Nucleoside phosphorylase, conserved site;Nucleoside phosphorylase domain|Nucleoside phosphorylase, conserved site;Nucleoside phosphorylase domain|Nucleoside phosphorylase, conserved site;Nucleoside phosphorylase domain|Nucleoside phosphorylase, conserved site	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	1133.83	136	chr7	48103309	.	A	G	1133.83	.	AC=12;AF=0.333;AN=36;BaseQRankSum=-1.526;DP=1709;ExcessHet=11.1788;FS=109.594;InbreedingCoeff=-0.4559;MLEAC=12;MLEAF=0.333;MQ=60;MQRankSum=0;QD=1.01;ReadPosRankSum=0.783;SOR=10.978	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:72,12:84:5:.:.:5,0,2517:.	6	0	12	1
chr7	66809044	66809044	G	C	exonic	RABGEF1	.	nonsynonymous SNV	RABGEF1:NM_001367749:exon5:c.G615C:p.K205N,RABGEF1:NM_001367750:exon6:c.G615C:p.K205N,RABGEF1:NM_001367753:exon7:c.G987C:p.K329N,RABGEF1:NM_001367722:exon8:c.G660C:p.K220N,RABGEF1:NM_001367745:exon8:c.G738C:p.K246N,RABGEF1:NM_001367747:exon8:c.G738C:p.K246N,RABGEF1:NM_001367748:exon8:c.G738C:p.K246N,RABGEF1:NM_001367756:exon8:c.G1005C:p.K335N,RABGEF1:NM_001287061:exon9:c.G1278C:p.K426N,RABGEF1:NM_001367723:exon9:c.G660C:p.K220N,RABGEF1:NM_001367724:exon9:c.G660C:p.K220N,RABGEF1:NM_001367728:exon9:c.G1236C:p.K412N,RABGEF1:NM_001367729:exon9:c.G1236C:p.K412N,RABGEF1:NM_001367734:exon9:c.G1236C:p.K412N,RABGEF1:NM_001367739:exon9:c.G1239C:p.K413N,RABGEF1:NM_014504:exon9:c.G1236C:p.K412N,RABGEF1:NM_001287060:exon10:c.G660C:p.K220N,RABGEF1:NM_001287062:exon10:c.G1236C:p.K412N,RABGEF1:NM_001367730:exon10:c.G1236C:p.K412N,RABGEF1:NM_001367733:exon10:c.G1236C:p.K412N,RABGEF1:NM_001367736:exon10:c.G1236C:p.K412N,RABGEF1:NM_001367737:exon10:c.G1239C:p.K413N,RABGEF1:NM_001367738:exon10:c.G1239C:p.K413N,RABGEF1:NM_001367741:exon10:c.G1353C:p.K451N,RABGEF1:NM_001367742:exon10:c.G1353C:p.K451N,RABGEF1:NM_001367744:exon10:c.G1308C:p.K436N,RABGEF1:NM_001367751:exon10:c.G615C:p.K205N,RABGEF1:NM_001367725:exon11:c.G1236C:p.K412N,RABGEF1:NM_001367731:exon11:c.G1236C:p.K412N,RABGEF1:NM_001367732:exon11:c.G1236C:p.K412N,RABGEF1:NM_001367735:exon11:c.G1236C:p.K412N,RABGEF1:NM_001367740:exon11:c.G1239C:p.K413N,RABGEF1:NM_001367743:exon11:c.G1308C:p.K436N,RABGEF1:NM_001367746:exon11:c.G738C:p.K246N,RABGEF1:NM_001367726:exon12:c.G1236C:p.K412N,RABGEF1:NM_001367727:exon12:c.G1236C:p.K412N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.0083824965112	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	0.45393	D	0.261	0.26386	T	.	.	.	.	.	.	0.000043	0.53742	D	0.219802	0.999905	0.50806	D	.	.	.	1.62	0.45636	T	-1.7	0.40468	N	0.24	0.37717	-1.0965	0.04542	T	0.066	0.27052	T	10	0.15482387	0.29195	T	0.008382	0.22181	T	0.051	0.14325	.	.	0.579757117833	0.57647	0.34612894706422614	0.34526	0.252138644839	0.27782	0.704809606075	0.67841	T	0.027056	0.19894	T	-0.21321	0.18929	T	-0.544038	0.17903	T	0.981622695922852	0.74018	D	0.860114	0.56064	D	.	.	.	.	.	.	.	.	-4.154	0.26082	T	.	.	0.223	0.49314	B	.;.;.;.;.;.	.;.;.;.;.;.	3.918768	0.57202	23.8	0.99712591131579675	0.81423	0.81753	0.41094	D	AEFDBI	0.135357	0.25567	N	-0.0436725433809977	0.39885	2.359478	0.131847970836641	0.46186	2.868828	0.0177751912186168	0.12988	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.17	5.3	0.74745	2.035000	0.40776	6.666000	0.56263	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.2349:0.0:0.7651:0.0	8.030	0.29622	889	0.27310	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1892.33	35	chr7	66809044	.	G	C	1892.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.332;DP=757;ExcessHet=0;FS=5.508;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.02;ReadPosRankSum=-0.737;SOR=1.204	GT:AD:DP:GQ:PL	0/1:61,65:126:99:1906,0,1616	18	0	1	0
chr7	67238440	67238440	G	A	exonic	TYW1	.	nonsynonymous SNV	TYW1:NM_018264:exon16:c.G2110A:p.A704T	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.398	0.0194099554828	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.003	0.79402	D	1.0	0.90584	D	0.984	0.76113	D	0.181324	0.17094	U	0.464265	0.999999	0.58761	D	3.605	0.93784	H	1.32	0.35219	T	-2.97	0.61865	D	0.678	0.68516	-0.2912	0.75232	T	0.292	0.66412	T	10	0.5259752	0.62911	D	0.01941	0.41765	T	0.398	0.71242	0.551	0.66716	0.686686103294	0.68400	0.7822082255876122	0.78171	1.0917408021	0.77454	0.787698030472	0.80092	T	0.354994	0.72207	T	0.104609	0.64787	D	-0.0875127	0.64349	T	0.987627506256104	0.78084	D	0.973003	0.93605	D	0.29153946	0.52135	0.40460315	0.64883	0.29153946	0.52135	0.40460315	0.64883	-9.53	0.71045	D	.	.	0.754	0.75217	P	.;.	.;.	5.062277	0.84388	28.3	0.99908086836329224	0.97801	0.95246	0.63981	D	AEFDBI	0.855968	0.77315	D	0.796820479352317	0.85907	8.718432	0.675665311826357	0.80534	7.32049	0.999520327259146	0.40175	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	3.74	3.74	0.42108	8.161000	0.89606	11.134000	0.86880	0.318000	0.19305	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:1.0:0.0	13.123	0.58755	956	0.09877	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1745.33	33	chr7	67238440	.	G	A	1745.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.248;DP=828;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.17;MQRankSum=0.148;QD=13.02;ReadPosRankSum=-1.441;SOR=0.693	GT:AD:DP:GQ:PL	0/1:60,74:134:99:1759,0,1470	18	0	1	0
chr7	73686650	73686650	A	T	exonic	BUD23	.	nonsynonymous SNV	BUD23:NM_001202560:exon3:c.A101T:p.D34V,BUD23:NM_017528:exon3:c.A101T:p.D34V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.366	0.180449983435	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	0.51853	D	0.092	0.54541	T	0.628	0.40146	P	0.544	0.49014	P	0.000029	0.55875	D	0.154569	0.999995	0.58761	D	.	.	.	-0.33	0.68329	T	-5.08	0.83292	D	0.556	0.59816	-0.5670	0.66134	T	0.288	0.65948	T	10	0.69424933	0.72044	D	0.18045	0.85490	D	0.366	0.68582	0.445	0.50302	0.595804720487	0.59259	0.6351285235498323	0.63446	0.778968953321	0.65178	0.397497296333	0.24720	T	0.272451	0.64484	T	0.117988	0.66169	D	-0.0682955	0.65747	T	0.990539193153381	0.80756	D	0.986301	0.95349	D	0.43203565	0.62885	0.29942533	0.55976	0.43203565	0.62885	0.29942533	0.55975	-11.394	0.82272	D	.	.	0.335	0.64164	B	.;.;.;.	.;.;.;.	4.225870	0.63950	24.6	0.9691562213335716	0.31597	0.92296	0.55385	D	AEFBCI	0.798161	0.72478	D	0.187021707089614	0.50576	3.246257	0.139928931967122	0.46612	2.904301	0.969844853001704	0.29160	0.719381	0.83141	0	0.723133	0.82719	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.93	3.78	0.42629	5.675000	0.67796	6.970000	0.57087	0.740000	0.86194	1.000000	0.71638	1.000000	0.68203	0.735000	0.35267	0.9093:0.0:0.0907:0.0	8.688	0.33413	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	.	.	.	.	.	.	.	.	0.02632	1170.33	34	chr7	73686650	.	A	T	1170.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.243;DP=723;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.45;ReadPosRankSum=-0.363;SOR=0.644	GT:AD:DP:GQ:PL	0/1:49,45:94:99:1184,0,1262	18	0	1	0
chr7	74783529	74783529	G	A	exonic	NCF1	.	stopgain	NCF1:NM_000265:exon7:c.G579A:p.W193X	Chronic granulomatous disease due to deficiency of NCF-1, Autosomal recessive	83	1438	1	0	0	1	0.000347584	.	.	YES	415113	not_provided|Granulomatous_disease,_chronic,_autosomal_recessive,_cytochrome_b-positive,_type_1|Chronic_granulomatous_disease	MedGen:C3661900|MONDO:MONDO:0009309,MedGen:C1856251,OMIM:233700,Orphanet:379|MONDO:MONDO:0018305,MedGen:C0018203,OMIM:PS306400,Orphanet:379	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	0.0004	.	0.0006	0.0001	0.0002	0	0	0.0011	0.0024	0	0.0001537	4	26028	rs145360423	0.0004	0.0004	0.0003	0.0004	0.0024	0.0003	0.0003	0.0013	0.0010	8.982e-05	0.0002	0.0106	0	0	0.0024	0.0002	0.0011	8.125e-05	0.0006	0.0006	0.0006	0.0005	0.0004	0.0005	0.0004	0.0002	0.0002	0.0001	0	0.0004	0.0141	0	0	0.0034	0.0003	0.0014	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.836	0.83167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.407994	0.90370	D	0.65	0.98035	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	8.346642	0.97456	37	0.99534020197779782	0.70087	0.91973	0.54665	D	AEFCI	0.329466	0.42980	N	0.727571311352137	0.81441	7.522594	0.545739924290384	0.71100	5.60387	0.994667165185099	0.33742	0.634777	0.41761	0	0.643519	0.57511	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.14	4.14	0.47821	8.985000	0.93048	11.737000	0.95113	0.492000	0.22399	1.000000	0.71638	1.000000	0.68203	0.535000	0.29822	0.0:0.0:1.0:0.0	15.444	0.74940	958	0.09170	SH3 domain|SH3 domain|SH3 domain|Neutrophil cytosol factor 1, first SH3 domain	.	.	.	.	.	Pathogenic	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0.002375	0.000000	0.005464	0.004386	0.000000	0.000000	0.000000	0.000000	0.02632	180.33	33	chr7	74783529	.	G	A	180.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.366;DP=568;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=34.82;MQRankSum=0.119;QD=10.02;ReadPosRankSum=1.22;SOR=0.758	GT:AD:DP:GQ:PL	0/1:9,9:18:99:194,0,248	18	0	1	0
chr7	74913183	74913183	T	-	exonic	SPDYE12P	.	frameshift deletion	SPDYE12P:NM_001382555:exon2:c.98delA:p.E33Gfs*15	.	549	970	2	1	0	4	0.00205761	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.0005	0.0003	0.0007	0.0073	0.0004	0.0004	0.0068	0.0066	0	0	0	0	0	0.0017	1.107e-05	0.0006	0.0073	0.0002	0.0002	9.037e-05	0.0002	0.0046	0.0001	9.748e-05	0.0031	0.0026	0	0	0	0	0	0	0	4.42e-05	0	0.0046	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	206.29	34	chr7	74913182	.	CT	C	206.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.26;DP=658;ExcessHet=0;FS=8.245;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=32.65;MQRankSum=-1.612;QD=3.56;ReadPosRankSum=-0.021;SOR=2.187	GT:AD:DP:GQ:PL	0/1:48,10:58:99:220,0,1762	18	0	1	0
chr7	75404846	75404846	C	T	exonic	TRIM73;TRIM74	.	nonsynonymous SNV	TRIM74:NM_001317815:exon4:c.C503T:p.S168L,TRIM74:NM_198853:exon4:c.C503T:p.S168L,TRIM73:NM_198924:exon4:c.C503T:p.S168L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	0.0215601994771	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.091e-05	1.096e-05	1.382e-05	7.905e-06	4.155e-05	6.33e-06	4.95e-06	1.103e-05	5.06e-06	0	0	0	0	0	0	1.015e-05	1.868e-05	4.155e-05	4.044e-05	2.094e-05	3.724e-05	4.424e-05	7.847e-05	6.7e-06	2.51e-06	1.298e-05	4.85e-06	0	0	0	0	0	0	0	7.847e-05	0	0	0.004	0.65419	D	0.0	0.92824	D	0.996	0.68779	D	0.773	0.56974	P	0.002531	0.36389	N	0.120821	0.939292	0.26840	N	0.805	0.20218	L	-0.43	0.69657	T	-4.31	0.76576	D	0.752	0.75101	-0.7244	0.59244	T	0.253	0.62303	T	10	0.4321081	0.57558	T	0.02156	0.44345	T	0.194	0.47447	0.399	0.42753	0.559697257647	0.55631	0.09837572576450104	0.09768	.	.	0.803728699684	0.82532	D	0.002145	0.01547	T	-0.0174067	0.49222	T	-0.26278	0.48547	T	0.954147040843964	0.64194	D	0.909509	0.73035	D	0.08969815	0.20967	0.10801074	0.26012	0.08969815	0.20966	0.10801074	0.26011	-6.857	0.52982	T	.	.	0.157	0.48928	B	.;.;.;.;.	.;.;.;.;.	4.684227	0.74992	26.3	0.99822304305048937	0.90502	0.93169	0.57505	D	AEFI	0.535689	0.55421	D	0.293574217326384	0.55822	3.746336	0.271367976814921	0.53875	3.554393	0.0016208862540558	0.08707	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	3.39	3.39	0.37919	5.598000	0.67274	5.632000	0.49119	0.495000	0.22486	1.000000	0.71638	1.000000	0.68203	0.620000	0.31896	0.0:1.0:0.0:0.0	13.826	0.62844	940	0.13648	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	354.33	30	chr7	75404846	.	C	T	354.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.092;DP=583;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=26.84;MQRankSum=-1.035;QD=10.74;ReadPosRankSum=0.398;SOR=0.536	GT:AD:DP:GQ:PL	0/1:18,15:33:99:368,0,468	18	0	1	0
chr7	77292997	77292997	A	T	exonic	CCDC146	.	nonsynonymous SNV	CCDC146:NM_020879:exon18:c.A2461T:p.M821L	.	428	1050	41	3	0	47	0.021891	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304	.	0.0008	0.00199681	0.0034	0	0.0016	0.0001	0	0.0015	0.0044	0.0173	0.0029042	449	154602	rs144507189	0.0019	0.0019	0.0015	0.0024	0.0181	0.0019	0.0019	0.0174	0.0171	0.0001	0.0016	0.0011	7.557e-05	0	0.0094	0.0009	0.0026	0.0181	0.0013	0.0013	0.0012	0.0015	0.0145	0.0012	0.0011	0.0118	0.0108	0.0002	0	0.0013	0.0026	0	0	0.0034	0.0013	0.0019	0.0145	0.017	0.51248	D	0.0	0.92824	D	0.999	0.77913	D	0.961	0.70482	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	2.595	0.75868	M	1.05	0.39990	T	-2.41	0.52938	N	0.6	0.61849	-0.4572	0.70161	T	0.292	0.66374	T	10	0.009073257	0.00205	T	.	.	.	0.304	0.62510	0.5	0.59147	0.478451964739	0.47474	0.41157083077869167	0.41073	0.596358103577	0.54880	0.53743326664	0.44083	T	0.100763	0.40687	T	-0.19223	0.21931	T	-0.0346211	0.68061	D	0.0755094731635753	0.09403	T	0.80032	0.44603	T	0.5057044	0.67429	0.50512016	0.71396	0.5057044	0.67430	0.50512016	0.71396	-7.85	0.60043	D	.	.	0.228	0.46073	B	.	.	4.348121	0.66758	25.0	0.98265455641230415	0.39703	0.96448	0.69189	D	AEFGCI	0.861843	0.77999	D	0.68435625978226	0.78606	6.905898	0.641971344388274	0.78014	6.791714	0.999998680789729	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.39	5.39	0.77615	8.348000	0.89968	9.276000	0.79675	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	1.0:0.0:0.0:0.0	14.236	0.65471	471	0.78036	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007049	0.000000	0.001359	0.008772	0.000000	0.000000	0.024390	0.011364	0.05263	2466.83	33	chr7	77292997	.	A	T	2466.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.061;DP=801;ExcessHet=0.119;FS=1.088;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=0.246;SOR=0.614	GT:AD:DP:GQ:PL	0/1:45,42:87:99:1095,0,1290	17	0	2	0
chr7	87381958	87381958	G	A	exonic	CROT	.	nonsynonymous SNV	CROT:NM_021151:exon11:c.G1027A:p.D343N,CROT:NM_001143935:exon12:c.G1111A:p.D371N	.	451	1070	1	0	0	1	0.000467071	.	.	.	2672711	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.346	0.0504303391021	7.7e-05	.	7.475e-05	0	0	0	0	9.068e-05	0.0011	0.0001	5.82e-05	9	154602	rs201754021	7.678e-05	7.661e-05	8.183e-05	7.167e-05	0.0007	6.504e-05	6.083e-05	0.0002	0.0001	0	2.241e-05	0	0	0	0.0007	9.095e-05	6.634e-05	2.341e-05	5.253e-05	5.25e-05	6.425e-05	4.029e-05	8.823e-05	2.556e-05	1.829e-05	3.763e-05	2.576e-05	2.405e-05	0	0	0	0	0	0.0034	8.823e-05	0	0	0.446	0.09101	T	0.35	0.17478	T	0.009	0.15093	B	0.01	0.14941	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.65	0.42232	L	-2.48	0.89071	D	-1.05	0.27463	N	0.367	0.40864	-0.1733	0.78347	T	0.569	0.84404	D	10	0.2553631	0.42927	T	0.05043	0.64240	D	0.346	0.66769	.	.	0.805041889666	0.80321	0.7385355380686064	0.73798	0.0270564746845	0.02765	0.446804791689	0.31507	T	0.194019	0.54967	T	-0.0956672	0.37142	T	-0.189292	0.55657	T	0.0828937664628029	0.10353	T	0.754025	0.37642	T	0.44757488	0.63888	0.37468627	0.62629	0.44757488	0.63888	0.37468627	0.62628	-7.351	0.58073	T	.	.	0.212	0.60931	B	.;.;.	.;.;.	2.973439	0.39636	21.0	0.99190887039898445	0.54965	0.97393	0.74464	D	AEFBCI	0.789880	0.71894	D	0.00121784298903509	0.41910	2.515456	0.194883082937241	0.49566	3.158254	0.999999994904025	0.74766	0.638212	0.43195	0	0.633656	0.55848	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.35	5.35	0.76297	6.252000	0.72400	6.700000	0.56368	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.421	0.94714	489	0.76795	.;Choline/carnitine acyltransferase domain;Choline/carnitine acyltransferase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	3061.81	35	chr7	87381958	.	G	A	3061.81	.	AC=2;AF=0.053;AN=38;DP=706;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=32.57;SOR=0.874	GT:AD:DP:GQ:PL	1/1:0,94:94:99:3089,282,0	18	1	0	0
chr7	93996297	93996297	C	G	exonic	BET1	.	nonsynonymous SNV	BET1:NM_001317739:exon3:c.G169C:p.V57L,BET1:NM_005868:exon3:c.G169C:p.V57L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.0280556482367	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1226283124	1.121e-05	1.505e-05	8.372e-06	1.407e-05	1.465e-05	6.64e-06	5.37e-06	8.67e-06	7.02e-06	0	0	0	0	0	0	1.465e-05	0	0	6.595e-06	6.574e-06	1.289e-05	0	1.474e-05	0	0	.	.	0	0	0	0	0	0	0	1.474e-05	0	0	0.068	0.91255	T	0.076	0.92824	T	0.254	0.31272	B	0.323	0.41825	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.12	0.58754	M	.	.	.	-2.32	0.54382	N	0.596	0.67391	-0.5390	0.67201	T	0.336	0.70273	T	9	0.39718962	0.55310	T	0.028056	0.50789	D	0.197	0.47942	0.642	0.77903	0.345175991111	0.34120	0.4947836147715056	0.49399	0.203680317947	0.22786	0.664033174515	0.61986	T	0.21914	0.66025	T	0.345049	0.86175	D	0.257863	0.85992	D	0.758107244968414	0.43743	D	0.952005	0.88094	D	0.4227829	0.62276	0.33796772	0.59580	0.4227829	0.62277	0.33796772	0.59579	-6.28	0.48563	T	.	.	0.866	0.84405	P	.;.;.	.;.;.	4.146416	0.62163	24.4	0.99711438997443591	0.81353	0.97968	0.78509	D	AEFBI	0.677347	0.64208	D	0.25259867354802	0.53766	3.544266	0.340834713044124	0.57958	3.963703	0.999996830958607	0.74766	0.732398	0.92422	0	0.633656	0.55848	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	4.74	4.74	0.59717	4.689000	0.61410	4.459000	0.43452	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	17.024	0.86315	635	0.64580	Target SNARE coiled-coil homology domain|Target SNARE coiled-coil homology domain|BET1, SNARE domain;.;Target SNARE coiled-coil homology domain|BET1, SNARE domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1316	140.19	80	chr7	93996297	.	C	G	140.19	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-3.925;DP=1871;ExcessHet=1.3;FS=322.429;InbreedingCoeff=-0.1734;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=0.26;ReadPosRankSum=0.561;SOR=12.381	GT:AD:DP:GQ:PL	0/1:67,24:102:25:25,0,1299	14	0	5	0
chr7	100175805	100175805	G	C	exonic	GPC2	.	nonsynonymous SNV	GPC2:NM_152742:exon3:c.C415G:p.L139V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.0084618148058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	5.746e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.19293	T	0.264	0.22761	T	0.002	0.09854	B	0.003	0.08700	B	0.011788	0.29400	N	0.319847	0.999984	0.18198	N	1.1	0.28011	L	0.82	0.48142	T	0.09	0.05917	N	0.115	0.10340	-1.0389	0.17648	T	0.045	0.19194	T	10	0.06973243	0.10047	T	0.008462	0.22382	T	0.015	0.02232	0.409	0.44395	0.260249123532	0.25628	0.12418845572528417	0.12344	0.308157786748	0.33120	0.309577137232	0.11843	T	0.086908	0.37827	T	-0.283254	0.10325	T	-0.644651	0.09334	T	0.086081848684672	0.10746	T	0.442656	0.12286	T	0.043123998	0.06666	0.05641909	0.10077	0.043123998	0.06665	0.05641909	0.10077	-4.159	0.26155	T	.	.	0.065	0.01960	B	.	.	1.692672	0.21567	15.25	0.93331368040686369	0.23058	0.23428	0.22073	N	AEFBI	0.121001	0.23544	N	-0.863199556233683	0.11727	0.5675084	-0.716315475991125	0.16555	0.876308	0.999171803000595	0.38651	0.52065	0.21626	1	0.588066	0.40923	0	0.719019	0.79029	0	0.604944	0.38103	0	.	.	5.06	2.18	0.26813	0.676000	0.24927	3.139000	0.36475	-0.186000	0.09761	0.000000	0.06391	1.000000	0.68203	0.968000	0.53726	0.0949:0.3504:0.5547:0.0	7.051	0.24254	285	0.88719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4737	18116.3	121	chr7	100175805	.	G	C	18116.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.889;DP=2073;ExcessHet=38.2876;FS=367.033;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=9.32;ReadPosRankSum=0.937;SOR=13.397	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,52:129:99:0|1:100175805_G_C:978,0,2494:100175805	1	0	18	0
chr7	100419158	100419158	T	C	exonic	ZCWPW1	.	nonsynonymous SNV	ZCWPW1:NM_001258008:exon5:c.A314G:p.E105G,ZCWPW1:NM_017984:exon5:c.A314G:p.E105G	.	437	1034	49	2	0	53	0.0249882	.	.	.	2840634	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.186	.	0.0037	0.00519169	0.0060	0.0004	0.0081	0.0001	0.0009	0.0060	0.0089	0.0133	0.0056015	866	154602	rs141450215	0.0047	0.0047	0.0042	0.0052	0.0340	0.0046	0.0045	0.0301	0.0286	0.0006	0.0067	0.0242	0.0001	0.0008	0.0340	0.0037	0.0066	0.0128	0.0041	0.0042	0.0042	0.0041	0.0157	0.0039	0.0038	0.0129	0.0118	0.0006	0.0055	0.0061	0.0196	0	0.0010	0.0306	0.0048	0.0085	0.0157	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.000189	0.48115	D	0.000000	1	0.81001	D	2.14	0.59869	M	-0.04	0.63403	T	-2.58	0.55662	D	0.656	0.66615	-0.7591	0.57455	T	0.190	0.54183	T	9	0.007864803	0.00179	T	.	.	.	0.186	0.46104	.	.	0.250579442822	0.24687	0.24123072230755827	0.24037	0.699819188154	0.61061	0.477081626654	0.35655	T	0.026106	0.19387	T	-0.217994	0.18268	T	-0.074878	0.65276	T	0.0250965068058876	0.01285	T	0.768523	0.39806	T	0.43225837	0.62900	0.48678872	0.70298	0.43225837	0.62900	0.48678872	0.70299	-9.733	0.73473	D	.	.	0.418	0.66060	A	.;.	.;.	5.010167	0.83197	28.0	0.99919301830838392	0.98654	0.73008	0.35719	D	ALL	0.709088	0.66329	D	0.317644890854957	0.57054	3.871421	0.397648003033706	0.61420	4.341826	0.999998930392949	0.74766	0.533608	0.22052	0	0.68618	0.66647	0	0.685742	0.62368	0	0.620976	0.48614	0	.	.	5.59	5.59	0.84677	3.787000	0.55144	7.906000	0.73790	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:0.0:1.0	12.446	0.54989	453	0.79178	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.023162	0.000000	0.036685	0.023392	0.050000	0.034483	0.030488	0.007576	0.05263	3137.81	34	chr7	100419158	.	T	C	3137.81	.	AC=2;AF=0.053;AN=38;DP=727;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.17;SOR=0.813	GT:AD:DP:GQ:PL	1/1:0,104:104:99:3165,312,0	18	1	0	0
chr7	100773851	100773851	A	0	exonic	ZAN	.	.	.	.	428	140	242	44	668	998	0.540984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6579	7629.63	110	chr7	100773851	.	A	*	7629.63	.	AC=25;AF=0.658;AN=38;BaseQRankSum=-1.304;DP=2087;ExcessHet=1.1637;FS=0;InbreedingCoeff=-0.0192;MLEAC=25;MLEAF=0.658;MQ=60;MQRankSum=0;QD=3.84;ReadPosRankSum=0.752;SOR=0.671	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,103:103:99:.:.:4625,310,0:.	3	9	7	0
chr7	100787956	100787956	G	0	exonic	ZAN	.	.	.	.	0	48	9	0	169	178	0.0857143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6842	1912.83	137	chr7	100787956	.	G	*	1912.83	.	AC=26;AF=0.684;AN=38;BaseQRankSum=0.734;DP=2414;ExcessHet=2.8258;FS=4.34;InbreedingCoeff=-0.1515;MLEAC=26;MLEAF=0.684;MQ=60;MQRankSum=0;QD=0.86;ReadPosRankSum=-1.014;SOR=0.992	GT:AD:DP:GQ:PL	1/1:0,82:82:99:3680,249,0	2	9	8	0
chr7	100952945	100952945	C	0	exonic	MUC3A	.	.	.	.	418	423	166	0	515	681	0.164032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	7294.67	944	chr7	100952945	.	C	*	7294.67	.	AC=14;AF=0.368;AN=38;BaseQRankSum=-0.282;DP=12658;ExcessHet=48.2876;FS=0;InbreedingCoeff=-1;MLEAC=14;MLEAF=0.368;MQ=57.98;MQRankSum=-8.296;QD=0.58;ReadPosRankSum=2.64;SOR=0.686	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:350,157:658:99:0|1:100952784_C_A:5539,0,14224:100952784	5	0	14	0
chr7	100953071	100953071	C	T	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C1292T:p.S431F	.	416	1044	62	0	0	62	0.0288372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.386e-06	0.0028	3.574e-06	5.169e-06	4.765e-06	1.29e-06	9.3e-07	1.12e-06	7.5e-07	0	0	0	0	2.69e-05	0	4.765e-06	0	0	0	0.0042	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.07811	.	.	.	.	.	.	.	0.0868344	0.14800	T	.	.	.	.	.	.	.	.	.	0.019857046747126048	0.01938	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.475152	0.14192	T	.	.	.	.	.	.	.	.	-7.542	0.57905	D	.	.	0.254	0.48827	B	.;.	.;.	0.947004	0.13229	9.730	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.337000	0.19582	-1.142000	0.06206	0.529000	0.24592	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	1510.83	945	chr7	100953071	.	C	T	1510.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.219;DP=13533;ExcessHet=0.119;FS=4.843;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=57.37;MQRankSum=-3.538;QD=1.2;ReadPosRankSum=-1.359;SOR=1.232	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:629,75:704:99:0|1:100952784_C_A:1256,0,26186:100952784	17	0	2	0
chr7	100954094	100954094	A	G	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.A2315G:p.H772R	.	808	657	57	0	0	57	0.0415755	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs933695519	0.0094	0.0084	0.0088	0.0099	0.0595	0.0091	0.0090	0.0528	0.0502	0.0016	0.0072	0.0349	3.479e-05	0.0009	0.0595	0.0082	0.0130	0.0215	0.0083	0.0088	0.0080	0.0086	0.0316	0.0079	0.0078	0.0275	0.0259	0.0016	0.0787	0.0127	0.0336	0.0004	0.0009	0.0479	0.0089	0.0152	0.0316	.	.	.	0.213	0.27056	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.03613	.	.	.	.	.	.	.	0.0039747953	0.00077	T	.	.	.	.	.	.	.	.	.	0.02810929783616011	0.02760	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304669	0.05813	T	.	.	.	.	.	.	.	.	-6.03	0.46530	T	.	.	0.163	0.35931	B	.;.	.;.	0.036165	0.04538	1.230	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.370000	0.02682	-8.607000	0.00942	-0.344000	0.05652	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	9134.83	488	chr7	100954094	.	A	G	9134.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-7.567;DP=6716;ExcessHet=0.119;FS=10.776;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=55.39;MQRankSum=18.64;QD=13.72;ReadPosRankSum=-1.064;SOR=0.737	GT:AD:DP:GQ:PL	0/1:121,261:382:99:6524,0,3601	17	0	2	0
chr7	100954158	100954158	C	G	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C2379G:p.I793M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1293765468	2.331e-06	6.36e-06	0	4.289e-06	.	0	0	.	.	0	0	0	0	3.334e-05	0	0	0	0	0.0005	0.0039	0.0005	0.0005	0.0017	0.0003	0.0003	0.0006	0.0004	0.0003	0	0.0012	0	0.0011	0.0003	0	0.0004	0	0.0017	.	.	.	0.046	0.49120	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.08646	.	.	.	.	.	.	.	0.044038594	0.03318	T	.	.	.	.	.	.	.	.	.	0.018937706257390052	0.01847	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.244176	0.03564	T	.	.	.	.	.	.	.	.	-5.36	0.40533	T	.	.	0.125	0.26263	B	.;.	.;.	0.590388	0.09587	6.363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.012000	0.12637	-7.416000	0.01161	0.447000	0.21209	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	269.33	502	chr7	100954158	.	C	G	269.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.248;DP=7366;ExcessHet=0;FS=1.028;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=55;MQRankSum=-10.46;QD=0.57;ReadPosRankSum=-0.739;SOR=0.825	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:436,38:474:99:0|1:100953996_C_A:283,0,18193:100953996	18	0	1	0
chr7	100954168	100954168	C	T	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C2389T:p.P797S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1405297788	4.764e-06	3.975e-05	0	8.796e-06	3.85e-06	7.9e-07	3e-07	.	.	0	0	0	0	3.373e-05	0	3.85e-06	0	0	0.0008	0.0049	0.0006	0.0009	0.0016	0.0006	0.0005	0.0007	0.0005	0.0005	0.0036	0.0016	0.0019	0.0014	0.0003	0	0.0006	0	0.0014	.	.	.	0.251	0.23707	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.02861	.	.	.	.	.	.	.	0.049508095	0.04550	T	.	.	.	.	.	.	.	.	.	0.059614147182007055	0.05901	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39586	0.09952	T	.	.	.	.	.	.	.	.	-3.669	0.18861	T	.	.	0.158	0.34862	B	.;.	.;.	-0.053016	0.03930	0.872	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.780000	0.01872	-4.039000	0.02378	-0.380000	0.05395	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	110.33	502	chr7	100954168	.	C	T	110.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.62;DP=7358;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=55.3;MQRankSum=-10.3;QD=0.24;ReadPosRankSum=-1.079;SOR=0.585	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:433,34:467:99:0|1:100953996_C_A:124,0,18079:100953996	18	0	1	0
chr7	100954883	100954883	C	T	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C3104T:p.T1035I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1291895937	1.811e-05	0.0004	2.487e-05	1.174e-05	0.0001	7.51e-06	5.28e-06	6.5e-06	3.04e-06	0.0001	9.083e-05	0	0	0	0	1.926e-05	0	0	1.339e-05	0.0013	1.309e-05	1.371e-05	0.0002	2.23e-06	8.3e-07	.	.	2.488e-05	0	0	0	0.0002	0	0	0	0	0	.	.	.	0.01	0.65728	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.01203	.	.	.	.	.	.	.	0.08443788	0.14151	T	.	.	.	.	.	.	.	.	.	0.037606147477919044	0.03706	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.321068	0.06505	T	.	.	.	.	.	.	.	.	-7.484	0.57498	T	.	.	0.175	0.38281	B	.;.	.;.	0.733817	0.11029	7.687	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.171000	0.16497	-7.960000	0.01054	-1.062000	0.01615	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	179.33	703	chr7	100954883	.	C	T	179.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.657;DP=8858;ExcessHet=0;FS=18.913;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.78;MQRankSum=-19.63;QD=0.43;ReadPosRankSum=-1.393;SOR=3.083	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:381,33:414:99:0|1:100954877_C_G:193,0,15888:100954877	18	0	1	0
chr7	100954967	100954967	C	T	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C3188T:p.T1063I	.	601	593	305	21	2	349	0.226354	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.329e-05	5.7e-05	0	2.54e-05	0.0001	4.89e-06	2.83e-06	2.684e-05	1.443e-05	0	0	0	0	0	0	4.336e-06	4.419e-05	0.0001	7.467e-06	0.0002	0	1.534e-05	1.658e-05	0	0	.	.	0	0	0	0	0	0	0	1.658e-05	0	0	.	.	.	0.009	0.66756	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.01421	.	.	.	.	.	.	.	0.08560631	0.14467	T	.	.	.	.	.	.	.	.	.	0.04646275418540985	0.04590	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.305069	0.05837	T	.	.	.	.	.	.	.	.	-3.05	0.10730	T	.	.	0.190	0.40905	B	.;.	.;.	0.694578	0.10635	7.333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.854000	0.27445	-9.164000	0.00858	-0.340000	0.05703	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	11284.2	840	chr7	100954967	.	C	T	11284.2	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.087;DP=11142;ExcessHet=4.0268;FS=0;InbreedingCoeff=-0.2667;MLEAC=1;MLEAF=0.026;MQ=57.23;MQRankSum=-5.66;QD=2.15;ReadPosRankSum=1.28;SOR=0.741	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:555,78:633:99:0|1:100954917_T_C:1591,0,23070:100954917	18	0	1	0
chr7	100955917	100955917	G	0	exonic	MUC3A	.	.	.	.	766	657	81	4	14	103	0.0634355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05882	27427.3	1071	chr7	100955917	.	G	*	27427.3	.	AC=2;AF=0.059;AN=34;BaseQRankSum=0.257;DP=15365;ExcessHet=11.1788;FS=3.902;InbreedingCoeff=-0.52;MLEAC=2;MLEAF=0.059;MQ=56.59;MQRankSum=-14.74;QD=2.67;ReadPosRankSum=1.55;SOR=1.18	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:719,135:854:99:0|1:100955895_T_A:3504,0,29784:100955895	15	0	2	2
chr7	100955959	100955959	A	G	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.A4180G:p.T1394A	.	768	680	56	1	17	75	0.0409027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1175400681	7.904e-05	0.0004	3.921e-05	0.0001	0.0008	5.602e-05	4.861e-05	0.0005	0.0004	0	5.076e-05	0.0003	0	0	0	2.158e-05	0.0001	0.0008	0.0006	0.0032	0.0006	0.0006	0.0031	0.0005	0.0005	0.0019	0.0015	0.0002	0.0025	0.0014	0.0009	0	9.978e-05	0.0040	0.0006	0.0020	0.0031	.	.	.	0.216	0.26306	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.03069	.	.	.	.	.	.	.	0.11744994	0.22181	T	.	.	.	.	.	.	.	.	.	0.03036875277365848	0.02985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.260974	0.04439	T	.	.	.	.	.	.	.	.	-7.243	0.55789	T	.	.	0.110	0.21125	B	.;.	.;.	0.622094	0.09905	6.665	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.465000	0.21715	-2.074000	0.04252	0.688000	0.82842	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	21749.6	1049	chr7	100955959	.	A	G	21749.6	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.02;DP=14333;ExcessHet=17.0548;FS=5.503;InbreedingCoeff=-0.5833;MLEAC=1;MLEAF=0.026;MQ=57.19;MQRankSum=-10.74;QD=2.14;ReadPosRankSum=-0.277;SOR=1.263	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:420,189:691:99:.:.:6672,0,17067:.	18	0	1	0
chr7	121124475	121124475	-	A	splicing	CPED1	NM_024913:exon8:c.1061+2->A;NM_001105533:exon7:c.1061+2->A	.	.	.	451	1070	1	0	0	1	0.000467071	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0014	0.00219649	0.0003	0.0031	0	0.0004	0	0	0	0.0001	0.0002305	6	26028	rs547003345	0.0001	0.0001	0.0002	0.0001	0.0046	0.0001	0.0001	0.0040	0.0037	0.0046	0.0001	0	0.0003	0	0.0002	4.881e-06	0.0005	4.994e-05	0.0010	0.0010	0.0011	0.0009	0.0034	0.0009	0.0008	0.0030	0.0028	0.0034	0	0.0002	0	0.0016	0	0	0	0.0014	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	376.29	20	chr7	121124475	.	T	TA	376.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.162;DP=626;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.18;ReadPosRankSum=0.08;SOR=0.725	GT:AD:DP:GQ:PL	0/1:29,17:46:99:390,0,758	18	0	1	0
chr7	121339025	121339025	T	C	exonic	WNT16	.	nonsynonymous SNV	WNT16:NM_016087:exon4:c.T748C:p.S250P,WNT16:NM_057168:exon4:c.T778C:p.S260P	.	432	1089	1	0	0	1	0.000458926	.	.	.	699784	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.292	.	0.0065	0.00798722	0.0019	0.0184	0.0012	0	0	0.0002	0.0022	0.0001	0.0018952	293	154602	rs116444834	0.0008	0.0008	0.0009	0.0007	0.0201	0.0007	0.0007	0.0188	0.0183	0.0201	0.0021	0.0024	2.519e-05	1.872e-05	0.0021	0.0002	0.0017	4.637e-05	0.0056	0.0056	0.0059	0.0053	0.0186	0.0053	0.0051	0.0176	0.0171	0.0186	0	0.0027	0.0017	0	0	0.0034	0.0003	0.0038	0	0.249	0.32610	T	0.244	0.24123	T	0.91	0.57599	P	0.544	0.56482	P	0.060426	0.22248	N	0.507321	0.733068	0.33740	D	1.28	0.32218	L	-1.03	0.76430	T	-1.62	0.38924	N	0.596	0.61511	-0.3305	0.74119	T	0.236	0.60270	T	10	0.00790751	0.00179	T	.	.	.	0.292	0.61157	.	.	0.952290385028	0.95178	0.6416180409144595	0.64096	0.61427469815	0.55954	0.503136813641	0.39265	T	0.597861	0.87068	D	-0.34779	0.04868	T	-0.256758	0.49146	T	0.0286901607680245	0.01790	T	0.781422	0.41649	T	0.7489026	0.80804	0.65415776	0.79755	0.7489026	0.80806	0.65415776	0.79756	-5.528	0.42129	T	.	.	0.183	0.49363	B	.;.	.;.	3.718744	0.53126	23.3	0.99813015263516425	0.89708	0.77877	0.38344	D	AEFCI	0.678559	0.64288	D	0.291790615874691	0.55733	3.737303	0.359709852350816	0.59096	4.08452	0.999896980880728	0.45129	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.51	5.51	0.81769	1.168000	0.31468	7.926000	0.74773	0.665000	0.62972	0.996000	0.39380	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.1459:0.8541	11.856	0.51715	803	0.44167	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.005051	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1383.33	33	chr7	121339025	.	T	C	1383.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.997;DP=930;ExcessHet=0;FS=0.778;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.12;ReadPosRankSum=1.21;SOR=0.871	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:49,49:98:99:0|1:121339025_T_C:1397,0,1314:121339025	18	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	0.02632	1255.33	50	chr7	123616399	.	A	G	1255.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.527;DP=902;ExcessHet=0;FS=7.348;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.82;ReadPosRankSum=-0.349;SOR=0.291	GT:AD:DP:GQ:PL	0/1:66,50:116:99:1269,0,1835	18	0	1	0
chr7	128880499	128880499	G	A	exonic	KCP	.	nonsynonymous SNV	KCP:NM_001366122:exon34:c.C3646T:p.R1216C	.	423	1098	1	0	0	1	0.000455166	.	.	.	3265113	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	9.337e-05	0	0	0	0	0	0	0.0002	1.29e-05	2	154602	rs748320181	3.276e-05	3.42e-05	3.429e-05	3.116e-05	0.0001	2.497e-05	2.229e-05	7.908e-05	6.154e-05	0	0	0	0	0	0	3.199e-05	0	0.0001	3.285e-05	3.283e-05	0	6.724e-05	7.35e-05	1.261e-05	7.98e-06	2.846e-05	1.858e-05	0	0	0	0	0	0	0	7.35e-05	0	0	.	.	.	0.038	0.54159	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.321	0.43223	.	.	.	.	.	.	.	0.22268757	0.39027	T	.	.	.	.	.	.	.	0.315314060047	0.31143	0.37236553569475545	0.37150	.	.	0.342408001423	0.16798	T	0.182085	0.53397	T	0.00519646	0.52368	T	0.0179969	0.71500	D	.	.	.	0.828517	0.58964	T	0.1740426	0.38186	0.16750781	0.38640	0.1740426	0.38186	0.16750781	0.38639	-13.048	0.89560	D	.	.	0.209	0.50380	B	.;.;.	.;.;.	4.812487	0.78303	26.9	0.78227654183684781	0.12210	0.92264	0.55313	D	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999994240565317	0.74766	0.13384	0.03154	2	0.27691	0.05143	1	0.108573	0.03145	0	0.057841	0.00900	0	0.204125	0.30647	4.68	2.78	0.31702	2.362000	0.43823	5.711000	0.49424	-0.148000	0.12190	0.916000	0.31843	1.000000	0.68203	0.230000	0.22734	0.0:0.0:0.6807:0.3193	11.778	0.51267	566	0.70798	VWFC domain|VWFC domain|VWFC domain;VWFC domain|VWFC domain|VWFC domain;VWFC domain|VWFC domain|VWFC domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	904.33	35	chr7	128880499	.	G	A	904.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.56;DP=826;ExcessHet=0;FS=3.176;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=1.73;SOR=0.387	GT:AD:DP:GQ:PL	0/1:40,34:74:99:918,0,1017	18	0	1	0
chr7	140017700	140017700	G	A	exonic	TBXAS1	.	nonsynonymous SNV	TBXAS1:NM_001366537:exon11:c.G1211A:p.R404Q,TBXAS1:NM_001061:exon12:c.G1394A:p.R465Q,TBXAS1:NM_001314028:exon12:c.G1337A:p.R446Q,TBXAS1:NM_001166253:exon13:c.G1532A:p.R511Q,TBXAS1:NM_001166254:exon14:c.G1193A:p.R398Q,TBXAS1:NM_001130966:exon16:c.G1394A:p.R465Q	Ghosal hematodiaphyseal syndrome, Autosomal recessive	0	1489	32	1	0	34	0.0112882	.	.	.	587929	not_provided|not_specified|TBXAS1-related_disorder	MedGen:C3661900|MedGen:CN169374|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.040	0.00779722285529	0.0011	0.00139776	0.0020	0.0001	0.0020	0	0.0018	0.0025	0.0045	0.0021	0.001824	282	154602	rs41311778	0.0014	0.0014	0.0013	0.0014	0.0090	0.0013	0.0013	0.0070	0.0063	0.0002	0.0019	0.0050	7.558e-05	0.0021	0.0090	0.0012	0.0023	0.0019	0.0013	0.0014	0.0013	0.0014	0.0022	0.0012	0.0011	0.0016	0.0014	7.216e-05	0	0.0022	0.0061	0	0.0014	0.0102	0.0017	0.0024	0.0021	0.21	0.19639	T	0.637	0.07419	T	0.031	0.20130	B	0.015	0.17295	B	0.065881	0.21850	N	0.483473	1	0.08975	N	.	.	.	-0.24	0.66834	T	0.25	0.04456	N	0.128	0.17691	-0.9798	0.35048	T	0.077	0.30676	T	10	0.007707268	0.00175	T	0.007797	0.20694	T	0.040	0.10527	.	.	0.273503213844	0.26977	0.6146852025524998	0.61400	0.137519854837	0.15505	0.248660236597	0.03628	T	0.006446	0.05881	T	-0.467726	0.00878	T	-0.457862	0.26832	T	0.0109043994219762	0.00156	T	0.689031	0.29821	T	.	.	.	.	.	.	.	.	-4.345	0.28802	T	.	.	0.078	0.06803	B	.;.;.;.;.	.;.;.;.;.	0.838685	0.12104	8.655	0.96610486747485569	0.30441	0.02841	0.07592	N	AEFDBCI	0.125115	0.24148	N	-1.4376983823085	0.02315	0.1020869	-1.48100394523166	0.02500	0.1150909	0.999999994997579	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.69	-5.64	0.02269	0.670000	0.24838	-0.528000	0.08651	-0.113000	0.14837	0.006000	0.17386	0.000000	0.08366	0.253000	0.23340	0.6056:0.1043:0.1751:0.115	4.773	0.12537	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	0.004536	0.005051	0.002717	0.008772	0.050000	0.008621	0.003049	0.000000	0.05263	2294.81	33	chr7	140017700	.	G	A	2294.81	.	AC=2;AF=0.053;AN=38;DP=723;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.87;SOR=1.483	GT:AD:DP:GQ:PL	1/1:0,72:72:99:2322,216,0	18	1	0	0
chr7	144259474	144259474	G	C	exonic	OR2A7	.	nonsynonymous SNV	OR2A7:NM_001005328:exon1:c.C155G:p.S52C	.	438	1069	15	0	0	15	0.00696702	.	.	.	3363365	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.022	0.00204396138299	.	.	0.0009	0.0005	0.0015	0	0	0.0012	0.0012	0.0008	0.0001153	3	26028	rs776485163	0.0002	0.0008	0.0002	0.0002	0.0034	0.0002	0.0002	0.0022	0.0019	0.0001	0.0004	0.0035	0	0	0.0034	0.0001	0.0004	0.0002	0.0004	0.0008	0.0003	0.0005	0.0008	0.0003	0.0003	0.0005	0.0004	0.0001	0	0.0008	0.0047	0	0	0.0121	0.0002	0.0016	0.0002	0.205	0.20002	T	0.124	0.35455	T	0.006	0.13644	B	0.014	0.16862	B	.	.	.	.	0.999997	0.08975	N	2.06	0.56677	M	5.33	0.01072	T	-1.42	0.34992	N	0.145	0.14622	-0.9677	0.37673	T	0.006	0.01907	T	9	0.0062807202	0.00142	T	0.002044	0.03721	T	0.022	0.04323	0.516	0.61611	0.221019684889	0.21715	0.11951825726567353	0.11878	.	.	0.190647616982	0.00237	T	0.008313	0.07636	T	-0.548406	0.00298	T	-0.715005	0.05040	T	0.00806284865342751	0.00096	T	.	.	.	0.06710805	0.14502	0.06177702	0.11982	0.06710805	0.14502	0.06177702	0.11982	-5.549	0.42324	T	.	.	0.077	0.06387	B	.;.	.;.	1.989068	0.25272	16.70	0.74091858488675799	0.10567	0.03719	0.09009	N	AEFI	0.087079	0.17656	N	-0.936145140582252	0.10006	0.4761393	-1.00978076446989	0.09570	0.4768497	2.06098153917817E-6	0.01202	0.638212	0.43195	0	0.588066	0.40923	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	2.95	1.02	0.19102	0.032000	0.13620	-0.039000	0.12693	-0.310000	0.06091	0.000000	0.06391	0.000000	0.08366	0.380000	0.26335	0.1216:0.1977:0.6807:0.0	5.884	0.18117	947	0.11584	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	0.015659	0.021053	0.024658	0.020661	0.000000	0.017241	0.000000	0.000000	0.02632	1259.33	46	chr7	144259474	.	G	C	1259.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.016;DP=1050;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=39.16;MQRankSum=0.103;QD=3.9;ReadPosRankSum=-0.798;SOR=0.618	GT:AD:DP:GQ:PL	0/1:263,60:323:99:1273,0,8868	18	0	1	0
chr7	151140047	151140047	C	T	exonic	AGAP3	.	nonsynonymous SNV	AGAP3:NM_031946:exon13:c.C1735T:p.R579W,AGAP3:NM_001350103:exon14:c.C697T:p.R233W	.	411	1110	1	0	0	1	0.000450248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.440	0.142218709671	.	.	0.0003	0	0	0	0	0	0	0.0022	0.0001746	27	154602	rs760191238	9.898e-05	0.0001	4.922e-05	0.0001	0.0015	8.552e-05	8.02e-05	0.0013	0.0012	6.028e-05	0	0	0	0	0	5.41e-06	8.32e-05	0.0015	7.879e-05	7.874e-05	8.993e-05	6.715e-05	0.0017	4.494e-05	3.51e-05	0.0008	0.0006	2.406e-05	0	0	0	0	0	0	4.41e-05	0	0.0017	0.001	0.78490	D	0.002	0.83351	D	1.0	0.90584	D	0.997	0.86255	D	0.000554	0.43413	D	0.088553	1	0.81001	D	3.12	0.87914	M	-0.53	0.70833	T	-4.26	0.76174	D	0.656	0.73555	-0.0227	0.81783	T	0.473	0.79769	T	10	0.090192646	0.15690	T	0.142219	0.82461	D	0.440	0.74377	0.347	0.34274	0.771798037588	0.76970	0.6347857211889372	0.63412	1.38090304394	0.84778	0.868919968605	0.92414	D	0.342759	0.71149	T	-0.0949224	0.37262	T	0.0607951	0.74298	D	0.412882791234241	0.29425	T	0.991934	0.97468	D	0.30809444	0.53621	0.31203455	0.57207	0.30809444	0.53621	0.31203455	0.57206	-14.932	0.95691	D	.	.	0.883	0.81684	P	.;.	.;.	5.564115	0.92164	32	0.99928361939966204	0.99222	0.94734	0.62146	D	AEFBI	0.742844	0.68634	D	0.623988365597792	0.74694	6.176	0.583017113159557	0.73721	6.017338	0.999999935690159	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.72	4.72	0.59248	3.866000	0.55752	7.613000	0.61989	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.179:0.821:0.0:0.0	12.460	0.55063	934	0.15400	.;Pleckstrin homology domain|Pleckstrin homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	669.33	33	chr7	151140047	.	C	T	669.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.645;DP=699;ExcessHet=0;FS=0.839;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.06;ReadPosRankSum=1.3;SOR=0.682	GT:AD:DP:GQ:PL	0/1:50,33:83:99:683,0,1181	18	0	1	0
chr7	152229940	152229940	A	G	exonic	KMT2C	.	nonsynonymous SNV	KMT2C:NM_170606:exon18:c.T2959C:p.Y987H	.	526	320	669	7	0	683	0.516251	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.432	.	.	.	0.4728	0.4914	0.4863	0.4887	0.4732	0.4636	0.4765	0.4809	0.0018057	47	26028	rs77735469	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	0.001979	0.37549	U	0.000000	0.971252	0.38857	D	2.22	0.62911	M	-2.28	0.87512	D	-4.01	0.75456	D	0.934	0.93959	0.656	0.92620	D	0.754	0.91609	D	10	0.012159407	0.00262	T	.	.	.	0.815	0.94046	.	.	.	.	0.5529033843776924	0.55216	2.65390431601	0.98462	0.900072455406	0.96449	D	0.576893	0.86083	D	0.315486	0.84148	D	0.215397	0.83941	D	0.0127532117779022	0.00216	T	0.984602	0.94707	D	0.6018943	0.72793	0.5814447	0.75738	0.6018943	0.72794	0.5814447	0.75739	-9.256	0.69330	D	0.6635921527459159	0.73748	0.854	0.79986	P	.;.	.;.	4.408107	0.68175	25.2	0.99273378386417865	0.57627	0.99067	0.90742	D	AEFBI	0.864295	0.78306	D	0.740431229350387	0.82279	7.723933	0.698705506977523	0.82280	7.728171	0.999787248307013	0.43007	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	4.67	4.67	0.58089	9.318000	0.95450	11.148000	0.87267	0.689000	0.82905	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	14.405	0.66648	929	0.16858	Zinc finger, PHD-finger|Zinc finger, RING-type|Zinc finger, PHD-type;Zinc finger, PHD-finger|Zinc finger, RING-type|Zinc finger, PHD-type	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.454123	0.322785	0.464481	0.464912	0.428571	0.473214	0.474638	0.463115	0.4737	21366.3	445	chr7	152229940	.	A	G	21366.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.758;DP=6155;ExcessHet=38.2876;FS=0;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=44.67;MQRankSum=0.851;QD=3.8;ReadPosRankSum=0.116;SOR=0.691	GT:AD:DP:GQ:PL	0/1:166,92:258:99:1707,0,4832	1	0	18	0
chr7	152265205	152265205	C	G	exonic	KMT2C	.	nonsynonymous SNV	KMT2C:NM_170606:exon8:c.G1017C:p.K339N	.	421	1051	50	0	0	50	0.0232342	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.572	.	.	.	0.0021	0.0111	0.0007	0.0018	0.0005	0.0010	0	0.0035	0.0006147	16	26028	rs775803041	5.981e-05	0.0076	4.535e-05	7.442e-05	0.0003	4.937e-05	4.544e-05	0.0002	0.0001	0.0003	9.457e-05	4.025e-05	0.0002	3.892e-05	0	3.535e-05	5.168e-05	0.0002	3.333e-05	0.0021	1.302e-05	5.465e-05	0.0002	1.275e-05	8.08e-06	8.19e-06	3.07e-06	4.945e-05	0	0	0	0	0	0	1.482e-05	0.0005	0.0002	0.246	0.17353	T	.	.	.	0.999	0.77913	D	0.991	0.79672	D	0.000576	0.43250	U	0.000000	0.938391	0.37224	D	1.445	0.36358	L	-5.16	0.98796	D	-2.17	0.49018	N	0.586	0.60664	0.881	0.95424	D	0.928	0.97621	D	10	0.022789448	0.00578	T	.	.	.	0.572	0.82629	0.4	0.42917	0.863302321749	0.86197	0.9070440576430164	0.90677	3.14057088863	0.99419	0.771010279655	0.77576	T	0.079823	0.36220	T	0.0848077	0.62599	D	-0.115956	0.62133	T	0.085914246737957	0.10725	T	0.856014	0.54441	D	0.14069383	0.32450	0.13352853	0.32017	0.14069383	0.32450	0.13352853	0.32016	-7.908	0.60442	D	0.7078248139639416	0.78764	0.700	0.72955	P	.;.	.;.	4.007063	0.59081	24.1	0.98560692262797078	0.42973	0.86679	0.46011	D	AEFDGI	0.317148	0.42122	N	-0.0667300470696601	0.38857	2.282421	-0.115006256874915	0.34785	2.004846	0.502645286987131	0.20955	0.706548	0.73137	0	0.724815	0.89359	0	0.601832	0.32385	0	0.74596	0.99574	0	.	.	4.65	3.77	0.42499	1.960000	0.40046	3.951000	0.40674	0.544000	0.25403	1.000000	0.71638	1.000000	0.68203	0.951000	0.49849	0.0:0.8451:0.0:0.1549	11.249	0.48247	952	0.10565	.;.	.	.	.	.	.	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	0.018652	0.007937	0.019284	0.026316	0.071429	0.008772	0.018657	0.017241	0.07895	210.79	184	chr7	152265205	.	C	G	210.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.079;DP=3675;ExcessHet=0.3672;FS=1.96;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=47.16;MQRankSum=-5.69;QD=0.25;ReadPosRankSum=-2.272;SOR=1.05	GT:AD:DP:GQ:PL	0/1:214,26:240:75:75,0,5974	16	0	3	0
chr8	10609948	10609948	C	G	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.G4150C:p.G1384R	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3188301	Retinal_dystrophy	Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.045	0.00162238193855	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.94e-06	1.642e-05	1.095e-05	6.912e-06	0.0003	4.99e-06	3.84e-06	0.0002	0.0002	0	0	0	0.0003	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.376	0.11334	T	0.121	0.35840	T	.	.	.	.	.	.	.	.	.	.	0.999997	0.08975	N	.	.	.	3.32	0.06214	T	-0.05	0.07736	N	0.117	0.10626	-0.9469	0.41498	T	0.014	0.05465	T	9	0.10402462	0.19156	T	0.001622	0.02625	T	0.045	0.12272	0.278	0.23164	0.316788114976	0.31282	0.06568765536653219	0.06507	.	.	0.222160607576	0.01438	T	.	.	.	-0.397244	0.02413	T	-0.80839	0.01701	T	0.0790720420029634	0.09867	T	0.534647	0.17878	T	0.060357437	0.12375	0.07936777	0.17862	0.060357437	0.12375	0.07936777	0.17861	-6.055	0.46737	T	.	.	0.147	0.32517	B	.	.	0.672697	0.10411	7.134	0.053606148112299815	0.00010	0.02277	0.06569	N	AEFDBI	0.028927	0.02637	N	-0.705380915931966	0.15869	0.8036573	-0.931140720808663	0.11361	0.5783139	0.0012533547619343	0.08381	0.580535	0.33130	0	0.573888	0.26702	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	0.493	0.493	0.16087	-0.335000	0.07917	0.238000	0.16272	0.452000	0.21348	0.000000	0.06391	0.002000	0.18203	0.010000	0.09038	0.0:1.0:0.0:0.0	6.300	0.20313	794	0.45591	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.3125	19088.4	307	chr8	10609948	.	C	G	19088.4	.	AC=10;AF=0.313;AN=32;BaseQRankSum=-3.359;DP=4756;ExcessHet=20.8569;FS=294.975;InbreedingCoeff=-0.7674;MLEAC=11;MLEAF=0.344;MQ=60;MQRankSum=0;QD=4.95;ReadPosRankSum=2.02;SOR=14.328	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:168,26:232:12:.:.:308,0,7548:.	6	0	10	3
chr8	20255154	20255154	C	T	exonic	LZTS1	.	nonsynonymous SNV	LZTS1:NM_001362884:exon2:c.G28A:p.G10S,LZTS1:NM_021020:exon2:c.G28A:p.G10S	Esophageal squamous cell carcinoma, Autosomal dominant	1	1519	2	0	0	2	0.000657895	.	.	.	1973607	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.150	0.0152345265628	.	.	8.348e-06	0	0	0	0	1.514e-05	0	0	6.5e-06	1	154602	rs770015908	1.642e-05	1.642e-05	1.225e-05	2.064e-05	2.069e-05	1.111e-05	9.34e-06	1.378e-05	1.151e-05	0	0	0	0	0	0	2.069e-05	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.42783	D	0.016	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.048447	1	0.81001	D	2.175	0.60977	M	1.73	0.35219	T	-1.81	0.42575	N	0.312	0.64052	-0.8483	0.52086	T	0.198	0.55343	T	10	0.25355303	0.42724	T	0.015235	0.35857	T	0.150	0.39571	0.201	0.11522	0.371749281113	0.36790	0.6515803652921127	0.65094	0.861284270804	0.68974	0.661321640015	0.61598	T	0.284475	0.65725	T	0.0267349	0.55287	T	-0.0987436	0.63495	T	0.648226082324982	0.38386	D	0.805419	0.48674	T	0.2830805	0.51342	0.26691785	0.52543	0.2830805	0.51342	0.26691785	0.52542	-2.548	0.06118	T	0.2524974081505311	0.34160	0.131	0.38062	B	.;.;.;.	.;.;.;.	4.050724	0.60035	24.2	0.99873151139801597	0.95076	0.98952	0.89087	D	AEFDBI	0.849581	0.76640	D	0.722104445343259	0.81082	7.439546	0.755291169442877	0.86551	8.92581	0.999999999999988	0.74766	0.700653	0.57754	0	0.573888	0.26702	0	0.717052	0.78885	0	0.530356	0.10902	0	.	.	5.98	5.98	0.97147	5.823000	0.68956	4.824000	0.45142	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	19.022	0.92898	944	0.12746	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	929.33	33	chr8	20255154	.	C	T	929.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.68;DP=688;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.09;ReadPosRankSum=-0.046;SOR=0.586	GT:AD:DP:GQ:PL	0/1:37,34:71:99:943,0,871	18	0	1	0
chr8	22099789	22099789	G	A	exonic	FAM160B2	.	nonsynonymous SNV	FAM160B2:NM_001354250:exon10:c.G1234A:p.V412M,FAM160B2:NM_022749:exon10:c.G1237A:p.V413M,FAM160B2:NM_001354251:exon11:c.G1063A:p.V355M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.0114689961864	.	.	4.196e-05	0.0001	8.721e-05	0	0	1.524e-05	0	0.0001	4.53e-05	7	154602	rs758671151	1.301e-05	1.505e-05	9.54e-06	1.652e-05	0.0002	8.32e-06	6.71e-06	3.768e-05	2.663e-05	2.992e-05	6.754e-05	0	2.52e-05	0	0.0002	5.397e-06	0	8.122e-05	1.314e-05	1.313e-05	2.569e-05	0	2.412e-05	2.18e-06	8.2e-07	.	.	2.412e-05	0	0	0	0	0	0	1.47e-05	0	0	0.074	0.34621	T	0.047	0.48855	D	0.654	0.40793	P	0.21	0.37304	B	0.002591	0.36278	N	0.262894	0.999879	0.19925	N	2.025	0.55430	M	1.13	0.38556	T	-1.21	0.30762	N	0.476	0.51137	-0.9886	0.32953	T	0.085	0.33043	T	10	0.31772536	0.49179	T	0.011469	0.29127	T	0.076	0.22200	0.433	0.48336	0.451310735921	0.44754	0.281082126786444	0.28021	0.111051837786	0.12532	0.398141860962	0.24809	T	0.150184	0.48954	T	-0.31582	0.07246	T	-0.454762	0.27173	T	0.112837098538876	0.13715	T	0.90391	0.66280	D	0.03370611	0.03642	0.064799726	0.13040	0.03370611	0.03641	0.064799726	0.13039	-6.816	0.52678	T	.	.	0.108	0.20274	B	.	.	2.566042	0.33239	19.28	0.9917462231179045	0.54498	0.84806	0.43896	D	AEFDBCI	0.199526	0.32632	N	-0.0816314959235961	0.38197	2.233578	-0.0889985785464323	0.35844	2.07858	0.999991331240896	0.74766	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.64	4.76	0.60189	3.243000	0.51090	3.982000	0.40914	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.021000	0.11733	0.0907:0.1692:0.7401:0.0	7.427	0.26277	653	0.62661	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	749.33	34	chr8	22099789	.	G	A	749.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.74;DP=712;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.03;ReadPosRankSum=0.047;SOR=0.753	GT:AD:DP:GQ:PL	0/1:51,32:83:99:763,0,1184	18	0	1	0
chr8	22209457	22209457	A	T	exonic	BMP1	.	nonsynonymous SNV	BMP1:NM_006129:exon19:c.A2588T:p.Q863L	Osteogenesis imperfecta, type XIII, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.00595112109051	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.289	0.15047	T	0.308	0.19845	T	0.0	0.02946	B	0.005	0.11217	B	0.041871	0.23902	U	0.207319	0.520563	0.81001	D	-0.135	0.04517	N	2.21	0.18414	T	-2.07	0.47344	N	0.392	0.43320	-1.0026	0.29168	T	0.015	0.06234	T	10	0.21043146	0.37438	T	0.005951	0.15520	T	0.062	0.17934	0.498	0.58835	0.228066490088	0.22430	0.27525897600846183	0.27438	0.387447643951	0.40021	0.349228739738	0.17808	T	0.12017	0.44222	T	-0.23708	0.15723	T	-0.578325	0.14694	T	0.073889607332888	0.09187	T	0.732227	0.34774	T	0.058051545	0.11632	0.045109425	0.05996	0.058051545	0.11631	0.045109425	0.05996	-7.022	0.54194	T	0.1263106874560925	0.12728	0.09	0.12607	B	.	.	2.585929	0.33535	19.37	0.9322062738727861	0.22898	0.46323	0.27734	N	AEFDBI	0.360543	0.45047	N	-0.928927758695274	0.10170	0.4847115	-0.818746573116587	0.14041	0.7316385	0.999677327695044	0.41644	0.706548	0.73137	0	0.573888	0.26702	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.75	2.3	0.27735	0.421000	0.20999	5.427000	0.48582	0.756000	0.94297	0.002000	0.15269	1.000000	0.68203	0.494000	0.28882	0.6022:0.159:0.0856:0.1531	2.363	0.04048	597	0.68309	CUB domain|CUB domain|CUB domain|CUB domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1442.33	35	chr8	22209457	.	A	T	1442.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.69;DP=844;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.61;ReadPosRankSum=0.155;SOR=0.638	GT:AD:DP:GQ:PL	0/1:54,52:106:99:1456,0,1533	18	0	1	0
chr8	23368195	23368195	C	A	exonic	LOXL2	.	nonsynonymous SNV	LOXL2:NM_002318:exon2:c.G157T:p.V53L	.	412	1078	32	0	0	32	0.0146252	.	.	.	723015	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.087	.	0.0013	0.00279553	0.0032	0.0003	0.0041	0	0	0.0020	0.0067	0.0119	0.0027943	432	154602	rs138503568	0.0021	0.0021	0.0017	0.0025	0.0123	0.0020	0.0020	0.0116	0.0114	0.0002	0.0025	0.0053	0	0.0003	0.0076	0.0014	0.0025	0.0123	0.0015	0.0015	0.0014	0.0016	0.0126	0.0014	0.0013	0.0101	0.0092	9.622e-05	0	0.0015	0.0069	0	0.0002	0.0034	0.0017	0.0014	0.0126	0.361	0.31088	T	0.589	0.92824	T	0.001	0.07471	B	0.004	0.10090	B	0.007622	0.31286	N	0.300165	0.999855	0.20048	N	2.215	0.62545	M	5.14	0.10008	T	-0.35	0.28084	N	0.263	0.29774	-1.0182	0.24301	T	0.030	0.13111	T	10	0.004447818	0.00091	T	.	.	.	0.087	0.25287	0.41	0.44559	0.199424873507	0.19547	0.43502478910142706	0.43419	0.153478402349	0.17316	0.548901617527	0.45702	T	0.013447	0.17955	T	-0.549969	0.00292	T	-0.552381	0.17097	T	0.0182554409845475	0.00545	T	0.829717	0.53152	T	0.05512299	0.10670	0.054311227	0.09319	0.05512299	0.10670	0.054311227	0.09318	-3.201	0.12493	T	.	.	0.156	0.64622	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.858964	0.23613	16.09	0.96983787674592004	0.31871	0.49742	0.28503	N	AEFDBCI	0.236684	0.35909	N	-0.667628289471856	0.16949	0.8679942	-0.66180091335689	0.17919	0.9549836	0.999878827411071	0.44625	0.706548	0.73137	0	0.59043	0.45803	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	5.5	4.62	0.56946	0.771000	0.26294	2.707000	0.34206	0.599000	0.40250	0.001000	0.13787	0.911000	0.28135	0.196000	0.21779	0.0:0.9218:0.0:0.0782	13.099	0.58622	816	0.41767	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006042	0.005051	0.004076	0.002924	0.000000	0.008621	0.006098	0.018939	0.02632	899.33	33	chr8	23368195	.	C	A	899.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.91;DP=748;ExcessHet=0;FS=0.891;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.49;ReadPosRankSum=-0.232;SOR=0.844	GT:AD:DP:GQ:PL	0/1:40,32:72:99:913,0,1019	18	0	1	0
chr8	28527857	28527857	A	C	exonic	FZD3	.	nonsynonymous SNV	FZD3:NM_145866:exon4:c.A1097C:p.Y366S,FZD3:NM_017412:exon5:c.A1097C:p.Y366S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.733	0.112536711528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.164	0.23360	T	0.229	0.25210	T	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.22	0.30592	L	-1.48	0.81150	T	-3.36	0.66549	D	0.892	0.89131	-0.0033	0.82188	T	0.531	0.82597	D	10	0.86584103	0.85828	D	0.112537	0.79072	D	0.733	0.90677	0.506	0.60078	0.910978530935	0.91008	0.82420749831174	0.82378	1.94513251559	0.93320	0.79725664854	0.81546	T	0.709163	0.91690	D	0.387863	0.89198	D	0.319362	0.89062	D	0.984737694263458	0.75947	D	0.861414	0.55526	D	0.50037515	0.67117	0.37308556	0.62503	0.50037515	0.67118	0.37308556	0.62503	-7.107	0.54811	T	.	.	0.467	0.63338	A	.;.	.;.	4.849540	0.79257	27.1	0.98881879482698976	0.47841	0.98876	0.88035	D	AEFGBI	0.912067	0.87221	D	0.628358452111575	0.74975	6.224987	0.647031843081357	0.78390	6.86662	0.999999906386	0.74766	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.620846	0.47308	0	.	.	5.11	5.11	0.69188	9.325000	0.96006	11.284000	0.91844	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	13.703	0.62101	835	0.38313	Frizzled/Smoothened, transmembrane domain|GPCR, family 2-like|Frizzled/Smoothened, transmembrane domain;Frizzled/Smoothened, transmembrane domain|GPCR, family 2-like|Frizzled/Smoothened, transmembrane domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	972.6	108	chr8	28527857	.	A	C	972.6	.	AC=5;AF=0.167;AN=30;BaseQRankSum=-4.292;DP=1867;ExcessHet=1.3;FS=283.872;InbreedingCoeff=-0.2258;MLEAC=6;MLEAF=0.2;MQ=60;MQRankSum=0;QD=1;ReadPosRankSum=2.46;SOR=11.075	GT:AD:DP:GQ:PL	0/1:142,54:196:99:244,0,3104	10	0	5	4
chr8	38419631	38419631	C	T	exonic	FGFR1	.	nonsynonymous SNV	FGFR1:NM_001174066:exon8:c.G919A:p.V307I,FGFR1:NM_001354368:exon8:c.G913A:p.V305I,FGFR1:NM_001354370:exon8:c.G913A:p.V305I,FGFR1:NM_023105:exon8:c.G919A:p.V307I,FGFR1:NM_023106:exon8:c.G913A:p.V305I,FGFR1:NM_001174063:exon9:c.G1186A:p.V396I,FGFR1:NM_001174065:exon9:c.G1180A:p.V394I,FGFR1:NM_001354367:exon9:c.G1180A:p.V394I,FGFR1:NM_001354369:exon9:c.G1180A:p.V394I,FGFR1:NM_015850:exon9:c.G1180A:p.V394I,FGFR1:NM_023110:exon9:c.G1186A:p.V396I,FGFR1:NM_001174064:exon10:c.G1162A:p.V388I,FGFR1:NM_001174067:exon10:c.G1279A:p.V427I	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	1521	1	0	0	1	0.000328623	.	.	.	1445625	Hypogonadotropic_hypogonadism_2_with_or_without_anosmia|Pfeiffer_syndrome|Jackson-Weiss_syndrome|Encephalocraniocutaneous_lipomatosis|Hartsfield-Bixler-Demyer_syndrome|Trigonocephaly_1|Osteoglophonic_dysplasia	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950,Orphanet:478|MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600,Orphanet:710|MONDO:MONDO:0007400,MedGen:C0795998,OMIM:123150,Orphanet:1540|MONDO:MONDO:0013074,MedGen:C0406612,OMIM:613001,Orphanet:2396|MONDO:MONDO:0014196,MedGen:C1845146,OMIM:615465,Orphanet:2117|MONDO:MONDO:0008603,MedGen:C0432122,OMIM:190440,Orphanet:3366|MONDO:MONDO:0008150,MedGen:C0432283,OMIM:166250,Orphanet:2645	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.200	0.0311793256465	.	.	2.484e-05	0.0001	0	0	0	0	0	0.0001	1.94e-05	3	154602	rs752627281	1.163e-05	1.231e-05	1.089e-05	1.238e-05	5.038e-05	7.08e-06	5.79e-06	9.24e-06	4.56e-06	2.987e-05	4.472e-05	0	5.038e-05	0	0	8.094e-06	0	3.478e-05	6.574e-05	6.567e-05	6.425e-05	6.73e-05	0.0001	3.518e-05	2.617e-05	6.285e-05	4.301e-05	0.0001	0	0	0	0	0	0	5.882e-05	0	0	0.615	0.06757	T	0.481	0.12632	T	0.007	0.14184	B	0.003	0.08700	B	0.000351	0.45440	N	0.255245	0.98956	0.26282	N	-1.285	0.00728	N	-1.59	0.82076	D	0.29	0.04233	N	0.071	0.05414	-0.9289	0.44299	T	0.169	0.50842	T	10	0.052855253	0.05385	T	0.031179	0.53322	D	0.200	0.48430	0.373	0.38503	0.298199939746	0.29431	0.282313918277118	0.28144	0.146048444311	0.16491	0.334691822529	0.15641	T	0.35964	0.72601	T	-0.365706	0.03817	T	-0.483653	0.24058	T	0.00776480371132493	0.00091	T	0.440256	0.13513	T	0.023392832	0.01076	0.030207632	0.01449	0.023392832	0.01075	0.030207632	0.01448	-2.568	0.08925	T	0.08186375081565414	0.04270	0.059	0.01109	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	0.689447	0.10580	7.287	0.76340976733239574	0.11429	0.10900	0.16270	N	AEFDBCI	0.132916	0.25239	N	-1.10207063891416	0.06606	0.3045908	-0.922510854027139	0.11564	0.5898616	0.994525405614589	0.33677	0.722319	0.85440	0	0.670034	0.63936	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.54	1.68	0.23219	0.214000	0.17331	0.939000	0.22838	-1.636000	0.00846	0.986000	0.36153	1.000000	0.68203	0.923000	0.45890	0.0:0.2139:0.1312:0.6549	5.770	0.17515	829	0.39537	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1606.33	33	chr8	38419631	.	C	T	1606.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.507;DP=799;ExcessHet=0;FS=1.217;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.56;ReadPosRankSum=2.47;SOR=0.817	GT:AD:DP:GQ:PL	0/1:97,71:168:99:1620,0,2442	18	0	1	0
chr8	39913951	39913951	C	A	exonic	IDO1	.	nonsynonymous SNV	IDO1:NM_002164:exon1:c.C29A:p.T10K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.00254578184856	.	.	3.353e-05	0	0	0	0	6.884e-05	0	0	6.5e-06	1	154602	rs768056394	4.217e-06	6.84e-06	2.781e-06	5.683e-06	3.071e-05	1.52e-06	1e-06	1.34e-06	9.8e-07	3.071e-05	0	0	0	0	0	4.578e-06	0	0	1.972e-05	1.97e-05	1.285e-05	2.69e-05	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.971	0.02141	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.020766	0.01539	N	2.064070	1	0.08975	N	0.49	0.13296	N	0.96	0.42888	T	-1.08	0.28084	N	0.077	0.05162	-1.0526	0.13682	T	0.060	0.24981	T	9	0.04256943	0.03020	T	0.002546	0.05093	T	0.044	0.11924	.	.	0.0611884634855	0.05136	0.412411800311297	0.41157	0.0403095053175	0.04319	0.266141235828	0.05644	T	0.013478	0.51985	T	-0.270584	0.11692	T	-0.626451	0.10685	T	0.0141489893032003	0.00277	T	0.379462	0.09138	T	0.08926666	0.20851	0.055360727	0.09697	0.08926666	0.20851	0.055360727	0.09697	-2.835	0.08510	T	.	.	0.065	0.01859	B	.;.;.;.;.	.;.;.;.;.	-0.977119	0.00804	0.027	0.50030135677590115	0.04313	0.00234	0.01306	N	AEFDGBHI	0.036903	0.04991	N	-1.41717905396658	0.02488	0.1099198	-1.46284327439309	0.02656	0.1225387	0.999999847898237	0.74766	0.67177	0.52595	0	0.607795	0.50457	0	0.702456	0.68683	0	0.75052	0.99595	0	.	.	5.51	-4.85	0.02911	-0.965000	0.03939	0.723000	0.21028	-0.306000	0.06133	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.2329:0.2901:0.4771:0.0	7.671	0.27626	915	0.20917	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	354.33	35	chr8	39913951	.	C	A	354.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.867;DP=692;ExcessHet=0;FS=2.348;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=5.72;ReadPosRankSum=0.787;SOR=0.934	GT:AD:DP:GQ:PL	0/1:43,19:62:99:368,0,1163	18	0	1	0
chr8	43056380	43056380	C	G	exonic	FNTA	.	nonsynonymous SNV	FNTA:NM_002027:exon1:c.C34G:p.Q12E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.262271168621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.331	0.13088	T	1.0	0.20037	T	0.0	0.02946	B	0.0	0.01387	B	0.550207	0.05365	N	1.261940	1	0.08975	N	0	0.06538	N	.	.	.	0.0	0.07008	N	0.108	0.09349	-1.0201	0.23682	T	0.042	0.17910	T	9	0.047077805	0.03980	T	0.262271	0.89555	D	0.019	0.03383	0.182	0.09004	0.110392049598	0.10638	0.11584420035500075	0.11512	0.233437321489	0.25874	0.711760163307	0.68849	T	0.044843	0.26939	T	-0.27477	0.11231	T	-0.632464	0.10229	T	0.071352942414534	0.08840	T	0.467953	0.13790	T	0.07267267	0.16183	0.068980835	0.14474	0.07267267	0.16183	0.068980835	0.14474	-2.207	0.04074	T	.	.	0.059	0.01909	B	.;.	.;.	1.351334	0.17589	13.25	0.53600304321281922	0.04971	0.27840	0.23389	N	AEFGBHCIJ	0.028039	0.02397	N	-1.13517940010874	0.06028	0.2763915	-1.14396127706646	0.06877	0.332534	0.999999999999477	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.08	-2.17	0.06663	0.026000	0.13490	1.208000	0.24886	0.526000	0.24426	0.013000	0.18845	0.564000	0.25536	0.228000	0.22680	0.1142:0.358:0.4502:0.0776	6.714	0.22480	422	0.81333	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	466.33	33	chr8	43056380	.	C	G	466.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.144;DP=574;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.66;ReadPosRankSum=0.203;SOR=0.52	GT:AD:DP:GQ:PL	0/1:20,20:40:99:480,0,509	18	0	1	0
chr8	60838157	60838160	GGGT	-	exonic	CHD7	.	frameshift deletion	CHD7:NM_017780:exon19:c.4435_4438del:p.G1479Lfs*66	CHARGE syndrome, Autosomal dominant;Hypogonadotropic hypogonadism 5 with or without anosmia	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.436e-06	8.414e-05	8.346e-06	8.527e-06	8.248e-06	4.5e-06	3.55e-06	3.88e-06	2.81e-06	0	0	0	0	0	0	8.248e-06	5.076e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	418.29	33	chr8	60838156	.	AGGGT	A	418.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.439;DP=1288;ExcessHet=0;FS=118.181;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.24;ReadPosRankSum=1.53;SOR=8.977	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:288,48:336:99:0|1:60838156_AGGGT_A:432,0,11611:60838156	18	0	1	0
chr8	60838160	60838160	-	CCCC	exonic	CHD7	.	frameshift insertion	CHD7:NM_017780:exon19:c.4438_4439insCCCC:p.K1481Pfs*2	CHARGE syndrome, Autosomal dominant;Hypogonadotropic hypogonadism 5 with or without anosmia	.	.	.	.	.	.	.	.	.	.	3409206	CHARGE_syndrome	MONDO:MONDO:0008965,MedGen:C0265354,OMIM:214800,Orphanet:138	criteria_provided,_single_submitter	Pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	424.29	33	chr8	60838160	.	T	TCCCC	424.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.591;DP=1284;ExcessHet=0;FS=120.572;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.27;ReadPosRankSum=1.08;SOR=9	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:286,48:334:99:0|1:60838156_AGGGT_A:438,0,11538:60838156	18	0	1	0
chr8	67299229	67299229	C	T	exonic	ARFGEF1	.	nonsynonymous SNV	ARFGEF1:NM_006421:exon4:c.G439A:p.V147I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.244	0.00485664365008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.43708	D	0.144	0.33109	T	0.998	0.73220	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	0.999944	0.51968	D	1.42	0.35681	L	1.82	0.25018	T	-0.83	0.22727	N	0.47	0.50598	-1.0588	0.12058	T	0.129	0.43867	T	10	0.44255733	0.58194	T	0.004857	0.12192	T	0.244	0.55061	0.419	0.46036	0.344740032716	0.34089	0.46458263451071363	0.46377	0.432702769526	0.43444	0.796535730362	0.81436	T	0.173112	0.52185	T	-0.0537433	0.43877	T	-0.314975	0.43122	T	0.922568202018738	0.58277	D	0.989121	0.96387	D	0.31868398	0.54528	0.16852483	0.38818	0.31868398	0.54528	0.16852483	0.38817	-7.853	0.60064	D	.	.	0.089	0.12276	B	.	.	4.127652	0.61742	24.4	0.99858364901069363	0.93729	0.99671	0.98530	D	AEFBI	0.844558	0.76151	D	0.691477747293272	0.79072	7.001596	0.703445623715783	0.82640	7.817407	0.999999999999729	0.74766	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.15	5.15	0.70287	7.905000	0.86479	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.003	0.92819	440	0.80101	Mon2, dimerisation and cyclophilin-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1786	165.75	17	chr8	67299229	.	C	T	165.75	.	AC=5;AF=0.179;AN=28;BaseQRankSum=-0.465;DP=388;ExcessHet=1.3;FS=182.949;InbreedingCoeff=-0.2845;MLEAC=6;MLEAF=0.214;MQ=60;MQRankSum=0;QD=1.55;ReadPosRankSum=0.447;SOR=8.121	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:10,6:16:14:.:.:14,0,151:.	9	0	5	5
chr8	89784141	89784143	TAA	-	splicing	RIPK2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1487635866	2.019e-05	3.64e-05	4.634e-06	3.477e-05	3.947e-05	1.049e-05	6.87e-06	1.18e-05	8.81e-06	0	0	0	0	0	0	2.514e-05	0	3.947e-05	0.0003	0.0006	0.0004	0.0001	0.0011	0.0001	9.507e-05	0.0002	7.938e-05	9.582e-05	0	0.0011	0	0	0.0024	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	383.72	15	chr8	89784140	.	GTAA	G	383.72	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.087;DP=481;ExcessHet=0.119;FS=7.059;InbreedingCoeff=-0.0788;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=9.59;ReadPosRankSum=3.87;SOR=1.85	GT:AD:DP:GQ:PL	0/1:14,6:21:99:124,0,350	17	0	2	0
chr8	89784141	89784145	TAAAA	0	splicing	RIPK2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	406.09	4	chr8	89784141	.	TAAAA	*	406.09	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.47;DP=362;ExcessHet=1.9404;FS=6.709;InbreedingCoeff=-0.234;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=5.72;ReadPosRankSum=-0.231;SOR=1.431	GT:AD:DP:GQ:PL	0/1:14,6:21:99:124,0,350	8	0	2	9
chr8	99962750	99962750	T	C	exonic	RGS22	.	nonsynonymous SNV	RGS22:NM_001286693:exon24:c.A3184G:p.N1062D,RGS22:NM_001286692:exon26:c.A3691G:p.N1231D,RGS22:NM_015668:exon26:c.A3727G:p.N1243D	.	441	1075	6	0	0	6	0.00278293	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.0136603864234	.	.	0.0002	0	8.693e-05	0	0	3.007e-05	0	0.0016	0.000194	30	154602	rs12546559	0.0001	0.0001	6.136e-05	0.0001	0.0014	8.998e-05	8.481e-05	0.0012	0.0011	0	0	0	0	0	0.0007	2.16e-05	9.955e-05	0.0014	3.944e-05	3.94e-05	5.141e-05	2.691e-05	0.0006	1.716e-05	1.13e-05	0.0002	8.996e-05	0	0	0	0	0	0	0	4.411e-05	0	0.0006	0.328	0.13219	T	0.533	0.12107	T	0.281	0.34918	B	0.11	0.37837	B	0.012013	0.29322	N	0.220011	1	0.08975	N	2.075	0.57047	M	1.46	0.32238	T	-0.36	0.16393	N	0.154	0.24385	-1.0453	0.15738	T	0.066	0.27225	T	10	0.01876694	0.00411	T	0.01366	0.33231	T	0.042	0.11227	.	.	0.525664996154	0.52213	0.16901058394887333	0.16821	0.127101656324	0.14323	0.385580599308	0.23045	T	0.002015	0.08662	T	-0.606184	0.00134	T	-0.693959	0.06162	T	0.029836356761753	0.01964	T	0.634137	0.24845	T	0.053219397	0.10038	0.06794445	0.14126	0.053219397	0.10038	0.06794445	0.14125	-2.934	0.09487	T	.	.	0.107	0.19879	B	.;.;.;.	.;.;.;.	1.524339	0.19565	14.33	0.97416287866221252	0.33850	0.61416	0.31478	D	AEFI	0.104255	0.20864	N	-0.404868317287991	0.25297	1.372252	-0.378263070191243	0.25646	1.411658	1.73111461959908E-4	0.05786	0.549168	0.22868	0	0.573888	0.26702	0	0.573888	0.23631	0	0.616125	0.45549	0	.	.	4.87	2.2	0.26966	0.460000	0.21635	1.272000	0.25297	0.609000	0.47794	0.886000	0.31111	0.722000	0.26360	0.305000	0.24618	0.0:0.0:0.3492:0.6508	9.160	0.36176	0	0.99858	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.02632	853.33	30	chr8	99962750	.	T	C	853.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.763;DP=692;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.97;ReadPosRankSum=-1.042;SOR=0.593	GT:AD:DP:GQ:PL	0/1:26,31:57:99:867,0,715	18	0	1	0
chr8	100137646	100137646	A	T	exonic	FBXO43	.	nonsynonymous SNV	FBXO43:NM_001029860:exon3:c.T1593A:p.N531K	.	657	859	1	5	0	11	0.00636206	.	.	.	2391372	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.065	0.0149192362661	.	.	0.0002	0	8.669e-05	0	0	9.033e-05	0	0.0008	0.0001358	21	154602	rs759048586	0.0001	0.0001	7.357e-05	0.0001	0.0011	9.476e-05	8.957e-05	0.0009	0.0008	2.991e-05	0	0	0	0	0.0009	4.409e-05	0.0002	0.0011	4.599e-05	4.597e-05	6.423e-05	2.69e-05	0.0006	2.109e-05	1.527e-05	0.0002	9e-05	0	0	0	0	0	0	0	5.88e-05	0	0.0006	0.037	0.43085	D	0.087	0.40747	T	0.792	0.44688	P	0.255	0.39216	B	0.026485	0.25911	N	0.464068	0.841823	0.35079	D	2.56	0.74772	M	0.63	0.53088	T	-2.47	0.53898	N	0.46	0.49692	-0.9293	0.44241	T	0.101	0.37417	T	10	0.10672566	0.19791	T	0.014919	0.35345	T	0.065	0.18881	0.389	0.41115	0.730967182232	0.72857	0.2843514943073435	0.28348	0.253366326615	0.27906	0.547137498856	0.45453	T	0.035125	0.23597	T	-0.437361	0.01340	T	-0.464395	0.26123	T	0.11268768920768	0.13701	T	0.687931	0.29705	T	0.11646189	0.27469	0.14810294	0.35022	0.11646189	0.27469	0.14810294	0.35021	-7.43	0.57116	T	.	.	0.530	0.65907	A	.	.	3.249242	0.44386	21.9	0.99768485723516431	0.85666	0.74910	0.36657	D	AEFDBI	0.272461	0.38809	N	-0.026882365640812	0.40641	2.416987	-0.0119717329308746	0.39174	2.318677	0.929346123174777	0.26965	0.615465	0.37627	0	0.633656	0.55848	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.76	0.747	0.17520	0.660000	0.24691	3.190000	0.36699	0.756000	0.94297	0.998000	0.41325	1.000000	0.68203	0.998000	0.85391	0.554:0.0:0.446:0.0	10.622	0.44675	0	0.99858	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2132.33	33	chr8	100137646	.	A	T	2132.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.376;DP=755;ExcessHet=0;FS=1.473;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.66;ReadPosRankSum=-1.177;SOR=0.867	GT:AD:DP:GQ:PL	0/1:47,81:128:99:2146,0,1154	18	0	1	0
chr8	109452281	109452281	G	A	splicing	PKHD1L1	NM_177531:exon42:c.6507+1G>A	.	.	.	431	1065	25	1	0	27	0.0125174	0.9999	0.92	.	779281	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	.	.	0.0079	0.00499201	0.0079	0.0035	0.0048	0	0.0014	0.0105	0.0067	0.0088	0.0078654	1216	154602	rs72687022	0.0097	0.0097	0.0097	0.0097	0.0220	0.0096	0.0095	0.0189	0.0177	0.0028	0.0066	0.0035	2.563e-05	0.0013	0.0220	0.0109	0.0103	0.0089	0.0069	0.0069	0.0080	0.0058	0.0108	0.0066	0.0064	0.0102	0.0099	0.0026	0.0209	0.0077	0.0023	0.0002	0.0008	0.0374	0.0108	0.0104	0.0056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.011008	0.50126	T	0.224385	0.84392	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.417902	0.90655	31	0.98811230320252463	0.46623	0.97911	0.78062	D	AEFI	.	.	.	1.09165194779639	0.97976	17.15447	0.918195175616818	0.96317	14.55232	0.999999999637216	0.74766	0.053691	0.00478	0	0.059962	0.00310	0	0.060301	0.00762	0	0.057018	0.00518	0	0.969385	0.71690	5.86	5.86	0.93936	7.930000	0.87066	11.814000	0.97026	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.255000	0.23391	0.0:0.0:1.0:0.0	17.668	0.88113	685	0.59416	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	484.33	34	chr8	109452281	.	G	A	484.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.544;DP=672;ExcessHet=0;FS=1.328;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.3;ReadPosRankSum=0.26;SOR=1.058	GT:AD:DP:GQ:PL	0/1:28,19:47:99:498,0,823	18	0	1	0
chr8	109498553	109498553	G	C	exonic	PKHD1L1	.	nonsynonymous SNV	PKHD1L1:NM_177531:exon66:c.G10691C:p.R3564P	.	421	1097	4	0	0	4	0.00181984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.580	0.0400004947935	0.0003	0.000599042	0.0007	0	0.0002	0	0.0002	0.0006	0.0011	0.0022	0.0006339	98	154602	rs201721695	0.0007	0.0007	0.0006	0.0007	0.0026	0.0006	0.0006	0.0023	0.0022	0	0.0001	0	0	0.0001	0.0021	0.0006	0.0004	0.0026	0.0004	0.0004	0.0004	0.0004	0.0014	0.0003	0.0003	0.0007	0.0005	7.221e-05	0	0.0004	0	0	9.441e-05	0	0.0007	0.0005	0.0014	0.029	0.45756	D	0.136	0.92824	T	0.996	0.68779	D	0.878	0.62312	P	0.000033	0.55875	D	0.071230	0.748365	0.29664	N	2.76	0.80626	M	-2.31	0.87750	D	-2.81	0.69835	D	0.81	0.80572	0.468	0.90096	D	0.743	0.91234	D	10	0.05666527	0.06388	T	0.04	0.59127	D	0.580	0.83081	.	.	0.416202232284	0.41236	0.8704274416174929	0.87008	0.254964693077	0.28073	0.544281542301	0.45051	T	0.127243	0.45414	T	0.0331901	0.56149	T	0.269041	0.86523	D	0.157511358581219	0.17685	T	0.806219	0.45479	T	0.58402777	0.71828	0.52940387	0.72810	0.58402777	0.71829	0.52940387	0.72810	-2.882	0.08965	T	.	.	0.853	0.85777	P	.;.	.;.	4.961891	0.82045	27.7	0.99747913881245021	0.84002	0.99424	0.95853	D	AEFI	0.936957	0.93404	D	0.823827223967613	0.87572	9.264703	0.82972467392791	0.91777	11.06291	0.999952376745709	0.48110	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.89	5.89	0.94758	7.014000	0.76124	9.744000	0.81446	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:1.0:0.0	15.762	0.77861	604	0.67577	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1370.33	36	chr8	109498553	.	G	C	1370.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.141;DP=802;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.02;ReadPosRankSum=1.24;SOR=0.691	GT:AD:DP:GQ:PL	0/1:56,58:114:99:1384,0,1394	18	0	1	0
chr8	120811614	120811614	G	C	exonic	SNTB1	.	nonsynonymous SNV	SNTB1:NM_021021:exon1:c.C230G:p.P77R	.	417	1104	1	0	0	1	0.000452694	.	.	.	2394427	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.037	0.0539457431346	.	.	3.335e-05	0	0.0002	0	0	0	0	8.786e-05	1.29e-05	2	154602	rs766992193	1.464e-05	1.437e-05	9.7e-06	1.963e-05	0.0004	9.41e-06	7.98e-06	9.206e-05	7.3e-05	0	0.0001	0	0	0	0.0004	0	1.692e-05	0.0002	1.973e-05	1.97e-05	1.285e-05	2.692e-05	0.0004	5.24e-06	2.46e-06	7.282e-05	3.026e-05	0	0	6.547e-05	0	0	0	0	0	0	0.0004	0.051	0.39334	T	0.106	0.37872	T	0.0	0.02946	B	0.0	0.01387	B	0.147174	0.18089	N	0.532361	0.819109	0.28905	N	0.305	0.10234	N	1.12	0.38718	T	-2.35	0.51968	N	0.257	0.29081	-1.0426	0.16532	T	0.053	0.22384	T	10	0.079503834	0.12798	T	0.053946	0.65667	D	0.037	0.09474	0.298	0.26362	0.082315109003	0.07666	0.40761550048910583	0.40677	.	.	0.7572286129	0.75517	T	0.299885	0.67240	T	-0.315732	0.07254	T	-0.475968	0.24876	T	0.0491260223891047	0.05345	T	0.40366	0.10339	T	0.09633459	0.22689	0.16668357	0.38495	0.09633459	0.22689	0.16668357	0.38494	-4.48	0.30626	T	.	.	0.097	0.16407	B	.;.	.;.	2.789152	0.36656	20.3	0.97912075856856295	0.36822	0.26431	0.22991	N	AEFDBHCIJ	0.154003	0.27896	N	-0.325273249116139	0.28192	1.552911	-0.193559627379355	0.31772	1.801241	0.999999959184988	0.74766	0.56387	0.32371	0	0.552344	0.17405	0	0.391439	0.06340	0	0.554799	0.18163	0	.	.	4.79	3.87	0.43823	2.325000	0.43499	1.673000	0.27967	0.583000	0.30283	0.031000	0.20493	0.994000	0.32194	0.761000	0.36181	0.0:0.0:0.8311:0.1689	12.307	0.54232	430	0.80826	Pleckstrin homology domain|Pleckstrin homology domain;Pleckstrin homology domain|Pleckstrin homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1666.33	38	chr8	120811614	.	G	C	1666.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.168;DP=804;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.62;ReadPosRankSum=-0.325;SOR=0.742	GT:AD:DP:GQ:PL	0/1:41,73:114:99:1680,0,840	18	0	1	0
chr8	125009277	125009277	A	G	exonic	SQLE	.	nonsynonymous SNV	SQLE:NM_003129:exon6:c.A1042G:p.I348V	.	440	1061	18	3	0	24	0.0111836	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	.	0.0016	0.00259585	0.0034	0.0001	0.0010	0	0	0.0023	0.0056	0.0144	0.0030853	477	154602	rs199608260	0.0030	0.0030	0.0026	0.0034	0.0139	0.0029	0.0029	0.0133	0.0130	0.0003	0.0009	0.0061	5.04e-05	0.0001	0.0029	0.0025	0.0027	0.0139	0.0017	0.0017	0.0016	0.0019	0.0118	0.0016	0.0015	0.0094	0.0085	0.0002	0	0.0008	0.0055	0	0.0003	0	0.0023	0.0014	0.0118	0.505	0.09687	T	0.827	0.05398	T	0.018	0.17786	B	0.035	0.22741	B	0.002665	0.36137	N	0.347488	0.748238	0.33899	D	0.705	0.18577	N	.	.	.	0.02	0.06739	N	0.102	0.08646	-1.0232	0.22671	T	0.080	0.31556	T	9	0.007342428	0.00167	T	.	.	.	0.113	0.31778	.	.	0.102598925029	0.09809	0.40313914311060073	0.40229	0.21350864514	0.23864	0.233839139342	0.02264	T	0.006144	0.69673	T	-0.560457	0.00252	T	-0.566157	0.15804	T	0.00998537056148052	0.00133	T	0.593441	0.21993	T	0.023919482	0.01174	0.037572183	0.03437	0.023919482	0.01174	0.037572183	0.03437	-4.99	0.36731	T	.	.	0.069	0.03197	B	.;.	.;.	0.261024	0.06395	2.862	0.68150669314228796	0.08570	0.62796	0.31890	D	AEFDGBIJ	0.208641	0.33470	N	-1.28288398061806	0.03881	0.174194	-1.23662953224712	0.05332	0.2538001	0.999998411878671	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.83	-4.43	0.03319	1.577000	0.36124	-0.227000	0.10711	-0.742000	0.03659	0.735000	0.28974	0.000000	0.08366	0.914000	0.44937	0.5864:0.0:0.4136:0.0	14.105	0.64608	923	0.18507	Squalene epoxidase;Squalene epoxidase	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.009146	0.003788	0.05263	1464.83	34	chr8	125009277	.	A	G	1464.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.313;DP=762;ExcessHet=0.119;FS=2.026;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=9.7;ReadPosRankSum=0.59;SOR=0.865	GT:AD:DP:GQ:PL	0/1:46,40:86:99:919,0,1172	17	0	2	0
chr8	133013720	133013720	G	A	exonic	TG	.	nonsynonymous SNV	TG:NM_003235:exon37:c.G6518A:p.R2173Q	Thyroid dyshormonogenesis 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	898969	Iodotyrosyl_coupling_defect|Inborn_genetic_diseases	MONDO:MONDO:0010135,MedGen:C0342194,OMIM:274700,Orphanet:95716|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.128	0.00805274023783	7.7e-05	.	6.65e-05	9.72e-05	0	0.0001	0	3.022e-05	0	0.0002	5.17e-05	8	154602	rs377383606	5.817e-05	5.883e-05	3.95e-05	7.704e-05	0.0005	4.812e-05	4.433e-05	0.0004	0.0004	2.987e-05	0	0	7.557e-05	0	0.0002	2.788e-05	3.312e-05	0.0005	5.912e-05	5.91e-05	2.569e-05	9.412e-05	0.0008	3.077e-05	2.21e-05	0.0003	0.0002	2.413e-05	0	0	0	0	0	0	5.879e-05	0	0.0008	0.698	0.06585	T	0.845	0.03558	T	0.002	0.15093	B	0.001	0.04355	B	0.936165	0.07565	N	1.033940	0.999999	0.08975	N	-0.52	0.02557	N	-0.01	0.66474	T	0.3	0.04694	N	0.103	0.08646	-0.9268	0.44602	T	0.088	0.33913	T	10	0.017719299	0.00380	T	0.008053	0.21342	T	0.128	0.35103	.	.	0.416454006429	0.41261	0.33525944202026803	0.33438	0.0786160445598	0.08843	0.174671888351	0.00055	T	0.05771	0.30642	T	-0.528059	0.00394	T	-0.660038	0.08264	T	0.0162835966350737	0.00399	T	0.553945	0.21854	T	0.055766635	0.10883	0.04763858	0.06905	0.055766635	0.10883	0.04763858	0.06905	-3.686	0.19112	T	0.09316408497925484	0.06100	0.063	0.01449	B	.;.	.;.	-1.190133	0.00541	0.013	0.66236086031612496	0.08000	0.01210	0.04304	N	AEFDBI	0.046165	0.07636	N	-1.63324923263023	0.01107	0.04808559	-1.59835776780882	0.01665	0.07561453	0.999997180510897	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.07	-6.31	0.01826	-2.281000	0.01238	-1.331000	0.05697	-3.272000	0.00101	0.000000	0.06391	0.000000	0.08366	0.168000	0.20914	0.3087:0.0:0.6913:0.0	14.509	0.67358	538	0.73119	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1095.33	39	chr8	133013720	.	G	A	1095.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.04;DP=807;ExcessHet=0;FS=1.632;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.18;ReadPosRankSum=0.576;SOR=0.882	GT:AD:DP:GQ:PL	0/1:50,48:98:99:1109,0,1162	18	0	1	0
chr8	133040076	133040076	G	A	exonic	SLA	.	nonsynonymous SNV	SLA:NM_001282964:exon6:c.C458T:p.T153M,SLA:NM_001282965:exon6:c.C215T:p.T72M,SLA:NM_006748:exon6:c.C659T:p.T220M,SLA:NM_001045557:exon7:c.C590T:p.T197M,SLA:NM_001045556:exon8:c.C539T:p.T180M	.	424	1092	5	1	0	7	0.00319489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	.	7.7e-05	0.00279553	0.0036	0.0007	0	0.0023	0	0.0001	0	0.0093	0.0010543	163	154602	rs200019421	0.0006	0.0007	0.0004	0.0009	0.0094	0.0006	0.0006	0.0088	0.0086	0.0003	0.0001	0	8.18e-05	0	0.0009	6.645e-05	0.0008	0.0094	0.0006	0.0006	0.0004	0.0007	0.0120	0.0005	0.0004	0.0095	0.0086	0.0003	0	6.536e-05	0	0.0002	0	0	0.0002	0.0005	0.0120	0.205	0.35726	T	0.127	0.41913	T	0.863	0.47474	P	0.162	0.34839	B	0.003439	0.34958	N	0.336188	0.924102	0.36766	D	1.73	0.44655	L	1.54	0.30133	T	-0.87	0.31981	N	0.122	0.16586	-1.0500	0.14397	T	0.059	0.24539	T	10	0.0037100315	0.00068	T	.	.	.	0.056	0.15993	.	.	0.165150595986	0.16160	0.27472116202853175	0.27385	0.505003373956	0.48759	0.375059366226	0.21555	T	0.257169	0.62816	T	-0.646737	0.00076	T	-0.694804	0.06115	T	0.0127358676898925	0.00215	T	0.826617	0.50835	T	0.02205633	0.00843	0.042060822	0.04925	0.02205633	0.00843	0.042060822	0.04925	-5.519	0.42416	T	.	.	0.078	0.16886	B	.;.;.;.;.	.;.;.;.;.	0.988867	0.13669	10.20	0.96444977396917952	0.29844	0.09662	0.15368	N	AEFDGBI	0.105711	0.21114	N	-0.335813017628666	0.27796	1.527985	-0.419779978315156	0.24417	1.336946	0.999999482864419	0.74766	0.495158	0.18159	0	0.563428	0.19063	0	0.535252	0.11790	0	0.530356	0.10902	0	.	.	5.77	3.96	0.45097	0.373000	0.20215	0.978000	0.23105	0.676000	0.76740	0.127000	0.23295	0.001000	0.17328	0.094000	0.17991	0.1551:0.0:0.8449:0.0	10.127	0.41828	778	0.48011	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002561	0.000000	0.001374	0.000000	0.000000	0.008772	0.000000	0.011364	0.02632	512.33	37	chr8	133040076	.	G	A	512.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.7;DP=734;ExcessHet=0;FS=7.678;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.15;ReadPosRankSum=0.248;SOR=1.721	GT:AD:DP:GQ:PL	0/1:36,20:56:99:526,0,901	18	0	1	0
chr8	139988739	139988739	C	T	exonic	TRAPPC9	.	nonsynonymous SNV	TRAPPC9:NM_001321646:exon18:c.G2770A:p.G924S,TRAPPC9:NM_001374684:exon18:c.G2653A:p.G885S,TRAPPC9:NM_001160372:exon19:c.G2797A:p.G933S,TRAPPC9:NM_031466:exon19:c.G2797A:p.G933S,TRAPPC9:NM_001374682:exon20:c.G2818A:p.G940S	Mental retardation, autosomal recessive 13, Autosomal recessive	4	1463	53	2	0	57	0.0191083	.	.	.	136075	not_provided|Intellectual_Disability,_Recessive|Inborn_genetic_diseases|not_specified	MedGen:C3661900|MedGen:CN239290|MeSH:D030342,MedGen:C0950123|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.042	.	0.0053	0.0129792	0.0146	0.0221	0.0076	0	0	0.0010	0.0052	0.0281	0.0026455	409	154602	rs114949291	0.0027	0.0026	0.0020	0.0035	0.0256	0.0027	0.0026	0.0247	0.0243	0.0237	0.0017	0.0035	2.798e-05	4.101e-05	0.0128	0.0005	0.0042	0.0256	0.0068	0.0068	0.0067	0.0068	0.0245	0.0064	0.0063	0.0209	0.0196	0.0185	0	0.0040	0.0035	0	0	0.0068	0.0007	0.0071	0.0245	0.209	0.19710	T	0.596	0.09588	T	0.005	0.35766	B	0.006	0.24832	B	0.000012	0.62929	N	0.114026	0.751216	0.29636	N	0.4	0.12274	N	.	.	.	-0.01	0.08033	N	0.295	0.33578	-1.0517	0.13926	T	0.021	0.08870	T	9	0.004834801	0.00103	T	.	.	.	0.042	0.11227	.	.	0.362758974969	0.35886	0.12049268189326275	0.11976	0.0848231563066	0.09583	0.331068098545	0.15096	T	0.025992	0.19327	T	-0.469245	0.00859	T	-0.42789	0.30176	T	0.0152808649358406	0.00338	T	0.811819	0.46320	T	0.03616323	0.04396	0.068118654	0.14183	0.038391553	0.05105	0.068118654	0.14182	-5.282	0.39764	T	.	.	0.091	0.13783	B	.;.;.;.	.;.;.;.	1.011054	0.13902	10.46	0.98729725598533269	0.45333	0.70043	0.34429	D	AEFDGBI	0.166247	0.29281	N	-0.0499159299800223	0.39605	2.33835	0.0126682155892763	0.40303	2.403049	0.999779627183075	0.42865	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.48	3.29	0.36801	1.772000	0.38182	-0.374000	0.09587	0.599000	0.40250	0.924000	0.32081	0.000000	0.08366	0.521000	0.29498	0.0:0.7858:0.0:0.2142	9.085	0.35738	971	0.05719	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.021368	0.000000	0.010638	0.017483	0.000000	0.064103	0.016529	0.053571	0.05263	5850.83	41	chr8	139988739	.	C	T	5850.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.8;DP=1228;ExcessHet=0.119;FS=0.374;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=15.48;ReadPosRankSum=0.89;SOR=0.656	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,105:185:99:0|1:139988737_A_G:2927,0,1947:139988737	17	0	2	0
chr8	142464884	142464884	C	A	exonic	ADGRB1	.	nonsynonymous SNV	ADGRB1:NM_001702:exon2:c.C686A:p.A229D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.0165849331979	.	0.000199681	0.0003	0	0	0	0	0	0	0.0004	1.94e-05	3	154602	rs569958433	2.188e-05	2.531e-05	1.295e-05	3.107e-05	0.0003	1.552e-05	1.347e-05	0.0002	0.0002	0	0	0	0	0	0	7.457e-06	1.749e-05	0.0003	1.971e-05	1.969e-05	2.571e-05	1.344e-05	0.0006	5.24e-06	2.45e-06	0.0002	9.014e-05	0	0	0	0	0	0	0	0	0	0.0006	0.661	0.04685	T	0.676	0.06186	T	.	.	.	.	.	.	0.498214	0.11979	U	0.696895	1	0.08975	N	.	.	.	1.66	0.27486	T	-0.36	0.13035	N	0.164	0.20262	-0.9852	0.33784	T	0.024	0.10239	T	10	0.025648057	0.00753	T	0.016585	0.37919	T	0.008	0.00669	0.247	0.18293	0.0934897674506	0.08844	0.2844900446850789	0.28362	1.93509585189	0.93180	0.7485871315	0.74238	T	0.088181	0.38103	T	-0.51849	0.00449	T	-0.682227	0.06848	T	0.0250097891523345	0.01274	T	0.60064	0.22426	T	0.081313685	0.18676	0.11456113	0.27653	0.081313685	0.18676	0.11456113	0.27653	-4.247	0.27427	T	.	.	0.103	0.18456	B	.;.;.	.;.;.	-0.900040	0.00925	0.035	0.62331280838397651	0.06935	0.06722	0.12743	N	AEFDGBHCI	0.079920	0.16150	N	-1.53655060834308	0.01614	0.07058646	-1.59168768684099	0.01706	0.07751376	0.993996251128245	0.33443	0.59774	0.34471	0	0.59043	0.45803	0	0.596491	0.31596	0	0.63947	0.58350	0	.	.	3.59	-3.88	0.03927	-3.566000	0.00479	-2.132000	0.04165	-0.773000	0.03420	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.2592:0.3598:0.3811	5.931	0.18373	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	.	.	.	.	.	.	.	.	0.02632	1104.33	36	chr8	142464884	.	C	A	1104.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.101;DP=733;ExcessHet=0;FS=2.905;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=-1.61;SOR=0.448	GT:AD:DP:GQ:PL	0/1:39,47:86:99:1118,0,1067	18	0	1	0
chr8	142613667	142613667	T	A	exonic	ARC	.	nonsynonymous SNV	ARC:NM_015193:exon1:c.A605T:p.D202V	.	436	1084	2	0	0	2	0.000921659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.0539866024974	0.0002	0.000599042	0.0005	0	0	0	0	0.0002	0.0015	0.0040	0.0003816	59	154602	rs140481166	0.0003	0.0003	0.0002	0.0004	0.0030	0.0002	0.0002	0.0023	0.0022	0	6.959e-05	0	0	0	0.0030	0.0001	0.0004	0.0026	0.0001	0.0001	0.0001	0.0002	0.0021	9.739e-05	8.254e-05	0.0011	0.0009	0	0	6.534e-05	0	0	0	0.0034	0.0001	0	0.0021	0.002	0.72154	D	0.005	0.72224	D	0.343	0.33512	B	0.208	0.37221	B	0.000821	0.41547	U	0.098086	0.999758	0.48800	D	0.345	0.11182	N	1.37	0.34253	T	-2.79	0.59059	D	0.453	0.49055	-1.0713	0.09129	T	0.051	0.21533	T	10	0.008679837	0.00197	T	0.053987	0.65682	D	0.205	0.49236	.	.	0.264728329957	0.26087	0.5469543250316121	0.54621	2.18874785332	0.95615	0.720966219902	0.70187	T	0.539679	0.84216	D	-0.370199	0.03584	T	-0.307907	0.43882	T	0.0705889823168461	0.08734	T	0.676632	0.28519	T	0.2481383	0.47797	0.17158112	0.39351	0.2481383	0.47797	0.17158112	0.39350	-4.071	0.24861	T	.	.	0.263	0.49731	B	.	.	3.867876	0.56134	23.7	0.99028300050835105	0.50742	0.80243	0.39932	D	AEFGBCI	0.268235	0.38477	N	-0.226452718200845	0.32051	1.803533	-0.121905515665118	0.34508	1.985781	0.999971802603447	0.50053	0.635344	0.42169	0	0.610034	0.51514	0	0.654045	0.52621	0	0.562822	0.20929	0	.	.	4.56	4.56	0.55644	2.211000	0.42465	7.721000	0.67307	0.665000	0.62972	0.983000	0.35670	1.000000	0.68203	0.087000	0.17632	0.0:0.209:0.0:0.791	5.601	0.16636	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002018	0.000000	0.001359	0.002924	0.000000	0.017241	0.000000	0.003788	0.02632	1176.33	42	chr8	142613667	.	T	A	1176.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.143;DP=964;ExcessHet=0;FS=2.566;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.42;ReadPosRankSum=-0.732;SOR=0.721	GT:AD:DP:GQ:PL	0/1:58,45:103:99:1190,0,1620	18	0	1	0
chr8	142665202	142665202	A	G	exonic	JRK	.	nonsynonymous SNV	JRK:NM_001077527:exon2:c.T857C:p.I286T,JRK:NM_001279352:exon2:c.T857C:p.I286T,JRK:NM_003724:exon2:c.T857C:p.I286T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.768e-06	1.59e-06	0	3.277e-06	3.154e-06	0	0	.	.	0	0	0	0	0	0	3.154e-06	0	0	6.574e-06	6.567e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	0.523	0.10354	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.48	0.31731	T	.	.	.	0.139	0.16864	.	.	.	.	.	.	.	0.12961358	0.24663	T	.	.	.	.	.	.	.	0.440394187108	0.43661	0.14706006454263518	0.14628	.	.	0.537433862686	0.44083	T	.	.	.	-0.15266	0.27897	T	-0.457062	0.26919	T	.	.	.	0.689231	0.29860	T	0.07756914	0.17613	0.26610738	0.52452	0.07756914	0.17613	0.26610738	0.52451	-4.607	0.32756	T	.	.	0.062	0.01960	B	.;.;.;.	.;.;.;.	1.021621	0.14010	10.58	0.76530421679010729	0.11505	0.04288	0.09831	N	AEFDBHCI	.	.	.	.	.	.	.	.	.	0.999859233276947	0.44174	0.256867	0.04430	0	0.271743	0.05004	0	0.121787	0.03316	0	0.221052	0.04502	0	0.142889	0.26897	3.67	2.49	0.29274	1.033000	0.29798	0.724000	0.21035	0.756000	0.94297	0.003000	0.16062	0.000000	0.08366	0.346000	0.25568	0.8745:0.0:0.1255:0.0	5.830	0.17833	982	0.03397	.;.;DDE superfamily endonuclease domain;DDE superfamily endonuclease domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2713.33	44	chr8	142665202	.	A	G	2713.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.82;DP=1839;ExcessHet=0;FS=0.512;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.04;ReadPosRankSum=0.995;SOR=0.762	GT:AD:DP:GQ:PL	0/1:110,98:208:99:2727,0,2687	18	0	1	0
chr8	142915200	142915200	A	T	exonic	CYP11B2	.	nonsynonymous SNV	CYP11B2:NM_000498:exon3:c.T441A:p.D147E	Aldosterone to renin ratio raised (3);Hypoaldosteronism, congenital, due to CMO I deficiency, Autosomal recessive;Hypoaldosteronism, congenital, due to CMO II deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1620605	not_provided|Corticosterone_18-monooxygenase_deficiency|Corticosterone_methyloxidase_type_2_deficiency	MedGen:C3661900|MONDO:MONDO:0008751,MedGen:C0268293,OMIM:203400,Orphanet:427|MONDO:MONDO:0012524,MedGen:C3463917,OMIM:610600,Orphanet:427	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.042	0.0630270715306	0.0003	.	0.0002	0.0002	8.886e-05	0.0004	0	0.0003	0	0	0.0001617	25	154602	rs151052374	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	9.634e-05	0.0001	0.0001	0	4.472e-05	0	0.0002	0	0.0002	0.0001	0.0002	0	8.541e-05	9.849e-05	0.0001	4.035e-05	0.0002	4.956e-05	3.962e-05	0.0001	7.894e-05	0	0	6.542e-05	0	0	0	0	0.0002	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.481093	0.12165	N	0.718995	0.999786	0.20372	N	0.12	0.08593	N	-0.26	0.67187	T	0.04	0.06488	N	0.079	0.05414	-0.9680	0.37612	T	0.080	0.31705	T	10	0.08213401	0.13521	T	0.063027	0.68837	D	0.042	0.11227	0.326	0.30873	0.426202426774	0.42236	0.7095911096184534	0.70901	0.214460058874	0.23979	0.391878724098	0.23935	T	0.071388	0.34196	T	-0.508223	0.00514	T	-0.675655	0.07250	T	0.0354059801997672	0.02877	T	0.111589	0.00840	T	0.11517606	0.27181	0.05572676	0.09829	0.11517606	0.27181	0.05572676	0.09828	-2.824	0.08406	T	.	.	0.137	0.29995	B	.	.	-1.543262	0.00270	0.004	0.63487900630574723	0.07237	0.02707	0.07358	N	AEFDGBI	0.045234	0.07374	N	-1.68799321184463	0.00885	0.03831435	-1.73949454543748	0.00973	0.04360895	0.00461423512186547	0.10641	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.44	-4.76	0.02994	-0.328000	0.07988	-6.675000	0.01335	-0.129000	0.13216	0.033000	0.20612	0.000000	0.08366	0.305000	0.24618	0.4374:0.2602:0.171:0.1314	1.579	0.02471	983	0.02875	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	905.33	40	chr8	142915200	.	A	T	905.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=5.6;DP=796;ExcessHet=0;FS=12.505;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=54.42;MQRankSum=-8.988;QD=10.65;ReadPosRankSum=-0.567;SOR=2.03	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:58,27:85:99:0|1:142915200_A_T:919,0,2302:142915200	18	0	1	0
chr8	143580081	143580081	C	A	exonic	EEF1D	.	nonsynonymous SNV	EEF1D:NM_001130056:exon6:c.G666T:p.Q222H,EEF1D:NM_001317743:exon6:c.G666T:p.Q222H,EEF1D:NM_001330646:exon6:c.G666T:p.Q222H,EEF1D:NM_001130057:exon7:c.G738T:p.Q246H,EEF1D:NM_001195203:exon7:c.G681T:p.Q227H,EEF1D:NM_001289950:exon7:c.G738T:p.Q246H,EEF1D:NM_001960:exon7:c.G738T:p.Q246H,EEF1D:NM_001130055:exon8:c.G738T:p.Q246H,EEF1D:NM_001130053:exon9:c.G1836T:p.Q612H,EEF1D:NM_032378:exon9:c.G1836T:p.Q612H	.	397	1124	1	0	0	1	0.000444642	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.0283381813506	0.0002	0.000399361	0.0004	0	8.651e-05	0	0	6.02e-05	0.0011	0.0026	0.0003493	54	154602	rs138717476	0.0002	0.0002	0.0001	0.0003	0.0030	0.0002	0.0002	0.0027	0.0026	0	0.0001	0	0	0	0.0014	3.148e-05	0.0002	0.0030	0.0001	0.0001	8.991e-05	0.0002	0.0023	8.16e-05	6.718e-05	0.0013	0.0010	0	0	6.532e-05	0	0	0	0	0.0001	0	0.0023	0.005	0.72154	D	0.356	0.54541	T	0.412	0.40170	B	0.114	0.52639	B	0.013719	0.28756	N	0.399370	0.966686	0.38546	D	1.73	0.44655	L	.	.	.	-2.31	0.59873	N	0.573	0.62611	-0.8139	0.54312	T	0.216	0.57758	T	9	0.029436648	0.01071	T	0.028338	0.51029	D	0.336	0.65816	0.637	0.77361	0.78224452757	0.78023	0.5112006433386628	0.51042	0.414904228319	0.42158	0.612851560116	0.54719	T	0.166982	0.55344	T	-0.184987	0.22997	T	-0.0428011	0.67512	D	0.0785498514279644	0.09801	T	0.809719	0.99067	T	0.1692431	0.37430	0.17046137	0.39156	0.1692431	0.37429	0.17046137	0.39156	-9.521	0.72120	D	.	.	0.397	0.80477	A	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.863911	0.56056	23.7	0.99515134399009131	0.68858	0.87592	0.47182	D	AEFGBCI	0.405822	0.47856	N	-0.108049816393048	0.37041	2.149442	-0.079283567447405	0.36247	2.107069	0.999963954427589	0.48965	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.85	3.03	0.34070	1.143000	0.31164	.	.	-0.262000	0.06890	1.000000	0.71638	0.999000	0.35428	0.869000	0.41347	0.0:0.7793:0.1424:0.0782	9.610	0.38824	952	0.10565	Translation elongation factor EF1B, beta/delta subunit, guanine nucleotide exchange domain|Translation elongation factor EF1B, beta/delta subunit, guanine nucleotide exchange domain|Translation elongation factor EF1B, beta/delta subunit, guanine nucleotide exchange domain;Translation elongation factor EF1B, beta/delta subunit, guanine nucleotide exchange domain|Translation elongation factor EF1B, beta/delta subunit, guanine nucleotide exchange domain|Translation elongation factor EF1B, beta/delta subunit, guanine nucleotide exchange domain;.;Translation elongation factor EF1B, beta/delta subunit, guanine nucleotide exchange domain|Translation elongation factor EF1B, beta/delta subunit, guanine nucleotide exchange domain|Translation elongation factor EF1B, beta/delta subunit, guanine nucleotide exchange domain;Translation elongation factor EF1B, beta/delta subunit, guanine nucleotide exchange domain|Translation elongation factor EF1B, beta/delta subunit, guanine nucleotide exchange domain|Translation elongation factor EF1B, beta/delta subunit, guanine nucleotide exchange domain;.;.;.;Translation elongation factor EF1B, beta/delta subunit, guanine nucleotide exchange domain|Translation elongation factor EF1B, beta/delta subunit, guanine nucleotide exchange domain|Translation elongation factor EF1B, beta/delta subunit, guanine nucleotide exchange domain;Translation elongation factor EF1B, beta/delta subunit, guanine nucleotide exchange domain|Translation elongation factor EF1B, beta/delta subunit, guanine nucleotide exchange domain|Translation elongation factor EF1B, beta/delta subunit, guanine nucleotide exchange domain;Translation elongation factor EF1B, beta/delta subunit, guanine nucleotide exchange domain|Translation elongation factor EF1B, beta/delta subunit, guanine nucleotide exchange domain|Translation elongation factor EF1B, beta/delta subunit, guanine nucleotide exchange domain;.;Translation elongation factor EF1B, beta/delta subunit, guanine nucleotide exchange domain|Translation elongation factor EF1B, beta/delta subunit, guanine nucleotide exchange domain|Translation elongation factor EF1B, beta/delta subunit, guanine nucleotide exchange domain;Translation elongation factor EF1B, beta/delta subunit, guanine nucleotide exchange domain|Translation elongation factor EF1B, beta/delta subunit, guanine nucleotide exchange domain|Translation elongation factor EF1B, beta/delta subunit, guanine nucleotide exchange domain;Translation elongation factor EF1B, beta/delta subunit, guanine nucleotide exchange domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	2594.33	37	chr8	143580081	.	C	A	2594.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.084;DP=863;ExcessHet=0;FS=4.737;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.3;ReadPosRankSum=2.53;SOR=0.689	GT:AD:DP:GQ:PL	0/1:111,100:211:99:2608,0,2976	18	0	1	0
chr8	143599579	143599579	C	G	exonic	TIGD5	.	nonsynonymous SNV	TIGD5:NM_032862:exon1:c.C1676G:p.P559R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.0100468860634	.	.	0	0	0	0	0	0	0	0	.	.	.	rs758152433	5.809e-06	1.368e-05	1.431e-06	1.032e-05	9.426e-05	2.5e-06	1.81e-06	4.407e-05	3.11e-05	0	0	0	0	0	0	0	1.765e-05	9.426e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.365	0.11732	T	0.039	0.51112	D	.	.	.	.	.	.	0.210386	0.16380	U	0.489628	1	0.08975	N	0.805	0.20218	L	1.56	0.29602	T	-0.51	0.15986	N	0.165	0.17416	-0.9996	0.30030	T	0.035	0.15204	T	10	0.10010773	0.18209	T	0.010047	0.26124	T	0.022	0.04323	.	.	0.231873229951	0.22792	0.21414728391270785	0.21330	1.09635788658	0.77590	0.474352657795	0.35280	T	0.007552	0.06949	T	-0.286394	0.10000	T	-0.649161	0.09013	T	0.204547852277756	0.20664	T	0.40126	0.10220	T	0.022174032	0.00863	0.03883857	0.03840	0.022174032	0.00862	0.03883857	0.03840	-5.331	0.40249	T	.	.	0.079	0.07318	B	.	.	0.133157	0.05285	1.780	0.93184819513537132	0.22846	0.18539	0.20302	N	AEFDGBCI	.	.	.	-0.819961125696627	0.12800	0.626327	-0.943500841244048	0.11074	0.5619561	0.999996933333528	0.74766	0.489673	0.17934	0	0.71359	0.82159	0	0.64067	0.45733	0	0.375	0.06713	1	.	.	4.55	-0.336	0.12030	-0.276000	0.08546	.	.	-0.176000	0.10722	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.0:0.5843:0.0:0.4157	7.789	0.28272	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	.	.	.	.	.	.	.	.	0.02632	729.33	39	chr8	143599579	.	C	G	729.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.457;DP=741;ExcessHet=0;FS=0.918;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.57;ReadPosRankSum=2.55;SOR=0.892	GT:AD:DP:GQ:PL	0/1:38,31:69:99:743,0,940	18	0	1	0
chr8	143919347	143919347	C	T	exonic	PLEC	.	nonsynonymous SNV	PLEC:NM_201378:exon32:c.G10432A:p.G3478S,PLEC:NM_201379:exon32:c.G10408A:p.G3470S,PLEC:NM_201380:exon32:c.G10885A:p.G3629S,PLEC:NM_201381:exon32:c.G10378A:p.G3460S,PLEC:NM_201382:exon32:c.G10474A:p.G3492S,PLEC:NM_201383:exon32:c.G10486A:p.G3496S,PLEC:NM_201384:exon32:c.G10474A:p.G3492S,PLEC:NM_000445:exon33:c.G10555A:p.G3519S	Epidermolysis bullosa simplex with muscular dystrophy, Autosomal recessive;Epidermolysis bullosa simplex with pyloric atresia, Autosomal recessive;Epidermolysis bullosa simplex, Ogna type, Autosomal dominant;Muscular dystrophy, limb-girdle, type 2Q, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	564701	not_provided|Epidermolysis_bullosa_simplex_5B,_with_muscular_dystrophy|Epidermolysis_bullosa_simplex,_Ogna_type|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2Q|Epidermolysis_bullosa_simplex_with_nail_dystrophy|Epidermolysis_bullosa_simplex_5C,_with_pyloric_atresia|Inborn_genetic_diseases	MedGen:C3661900|MONDO:MONDO:0009181,MedGen:C2931072,OMIM:226670,Orphanet:257|MONDO:MONDO:0007555,MedGen:C0432317,OMIM:131950,Orphanet:79401|MONDO:MONDO:0013390,MedGen:C3150989,OMIM:613723,Orphanet:254361|MONDO:MONDO:0014661,MedGen:C4225309,OMIM:616487|MONDO:MONDO:0012807,MedGen:C2677349,OMIM:612138,Orphanet:158684|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.768	0.125109202711	.	0.000199681	4.984e-05	0	0	0.0001	0	1.504e-05	0	0.0002	4.53e-05	7	154602	rs544332992	4.447e-05	4.515e-05	4.357e-05	4.539e-05	0.0002	3.576e-05	3.258e-05	8.885e-05	7.053e-05	0.0001	0	3.826e-05	0.0001	0	0	3.327e-05	6.624e-05	0.0002	2.626e-05	2.624e-05	3.854e-05	1.342e-05	0.0002	8.14e-06	5.14e-06	.	.	2.405e-05	0	0	0	0	0	0	1.47e-05	0.0005	0.0002	0.022	0.48642	D	0.035	0.53426	D	1.0	0.90584	D	0.955	0.72923	D	0.003084	0.35449	U	0.169897	0.99999	0.58761	D	2.925	0.84406	M	-1.94	0.84919	D	-2.69	0.57435	D	0.73	0.79022	0.906	0.95758	D	0.829	0.94274	D	10	0.86807513	0.86061	D	0.125109	0.80658	D	0.768	0.92170	0.812	0.92788	0.794576342531	0.79266	0.5153483412086666	0.51457	.	.	0.480047494173	0.36063	T	0.283195	0.65595	T	0.00190316	0.51916	T	0.0652812	0.74595	D	0.493884616630785	0.32406	T	0.965203	0.87125	D	0.099464834	0.23474	0.1808876	0.40918	0.099464834	0.23473	0.1808876	0.40917	-10.542	0.77088	D	0.7107565493586747	0.79095	0.325	0.57091	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	2.988663	0.39896	21.1	0.96528568643511325	0.30144	0.95493	0.64940	D	AEFDGBHCI	0.691972	0.65179	D	0.842277971968999	0.88664	9.664117	0.741638515355782	0.85532	8.608532	0.999999999967079	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.03	5.03	0.67015	5.761000	0.68452	.	.	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.021000	0.11733	0.0:1.0:0.0:0.0	18.172	0.89682	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	.	.	.	.	.	.	.	.	0.02632	5179.33	69	chr8	143919347	.	C	T	5179.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.8;DP=2083;ExcessHet=0;FS=4.539;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.59;ReadPosRankSum=-0.659;SOR=0.515	GT:AD:DP:GQ:PL	0/1:192,189:381:99:5193,0,4743	18	0	1	0
chr8	143950204	143950204	G	A	exonic	PLEC	.	nonsynonymous SNV	PLEC:NM_201380:exon1:c.C503T:p.P168L	Epidermolysis bullosa simplex with muscular dystrophy, Autosomal recessive;Epidermolysis bullosa simplex with pyloric atresia, Autosomal recessive;Epidermolysis bullosa simplex, Ogna type, Autosomal dominant;Muscular dystrophy, limb-girdle, type 2Q, Autosomal recessive	0	1512	10	0	0	10	0.00329598	.	.	.	1194025	Epidermolysis_bullosa_simplex_with_nail_dystrophy|Epidermolysis_bullosa_simplex_5B,_with_muscular_dystrophy|Epidermolysis_bullosa_simplex_5C,_with_pyloric_atresia|Junctional_epidermolysis_bullosa_with_pyloric_atresia|Epidermolysis_bullosa_simplex,_Ogna_type|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2Q|not_specified|not_provided	MONDO:MONDO:0014661,MedGen:C4225309,OMIM:616487|MONDO:MONDO:0009181,MedGen:C2931072,OMIM:226670,Orphanet:257|MONDO:MONDO:0012807,MedGen:C2677349,OMIM:612138,Orphanet:158684|MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730,Orphanet:79403|MONDO:MONDO:0007555,MedGen:C0432317,OMIM:131950,Orphanet:79401|MONDO:MONDO:0013390,MedGen:C3150989,OMIM:613723,Orphanet:254361|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.100	.	0.0005	0.0081869	0.0187	0.0134	0.0016	0.0011	0	0.0002	0.0204	0.0666	0.0031242	483	154602	rs201053471	0.0017	0.0018	0.0011	0.0024	0.0265	0.0017	0.0017	0.0255	0.0251	0.0038	5.662e-05	0	0	2.095e-05	0.0025	5.327e-05	0.0025	0.0265	0.0021	0.0021	0.0016	0.0027	0.0334	0.0019	0.0018	0.0292	0.0276	0.0037	0	0.0001	0	0	9.413e-05	0.0068	2.941e-05	0.0005	0.0334	0.389	0.10874	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.465206	0.12344	N	0.667673	0.99916	0.81001	D	0.975	0.24501	L	-1.04	0.76561	T	-0.71	0.20145	N	0.125	0.11769	-0.9310	0.43992	T	0.228	0.59321	T	10	0.0021174252	0.00030	T	.	.	.	0.100	0.28662	.	.	0.218112801441	0.21410	0.30374898786339455	0.30287	.	.	0.518915235996	0.41473	T	0.052402	0.29152	T	-0.489249	0.00656	T	-0.455952	0.27042	T	0.00687257465251327	0.00078	T	0.677732	0.28664	T	0.04385817	0.06911	0.059327684	0.11114	0.048424006	0.08435	0.07295974	0.15800	-4.323	0.28498	T	.	.	0.065	0.01909	B	.	.	1.003883	0.13828	10.38	0.86978422107214026	0.16903	0.05748	0.11676	N	AEFDGBHCI	0.101815	0.20440	N	-0.844910004984061	0.12175	0.5918855	-0.81275407971719	0.14186	0.7399777	0.999999999994548	0.74766	0.646311	0.45356	0	0.546412	0.12157	0	0.645312	0.48771	0	0.581474	0.35302	0	.	.	4.45	1.62	0.22817	-0.062000	0.11631	.	.	0.604000	0.46097	0.000000	0.06391	0.000000	0.08366	0.982000	0.59238	0.2109:0.1857:0.6034:0.0	4.457	0.11071	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	0.007172	0.000000	0.004155	0.005988	0.000000	0.000000	0.000000	0.023438	0.02632	396.33	35	chr8	143950204	.	G	A	396.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.4;DP=697;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.26;ReadPosRankSum=1.79;SOR=0.612	GT:AD:DP:GQ:PL	0/1:34,14:48:99:410,0,822	18	0	1	0
chr8	144528883	144528883	C	T	exonic	C8orf82	.	nonsynonymous SNV	C8orf82:NM_001001795:exon1:c.G34A:p.A12T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.0768176784961	.	0.000199681	7.693e-05	0	0	0	0	0	0	0.0001	3.84e-05	1	26028	rs576814507	6.589e-06	1.163e-05	1.445e-06	1.187e-05	0.0001	3.1e-06	2.25e-06	6.19e-05	4.643e-05	0	0	0	0	0	0	0	0	0.0001	6.573e-06	6.563e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.162	0.44029	T	0.604	0.22084	T	0.013	0.16609	B	0.017	0.18140	B	0.946574	0.08317	U	0.965358	1	0.08975	N	1.375	0.34280	L	.	.	.	-0.58	0.19297	N	0.1	0.14196	-0.9908	0.32398	T	0.021	0.08963	T	9	0.0497258	0.04603	T	0.076818	0.72623	D	0.020	0.03691	0.263	0.20788	0.0138822411134	0.00435	0.38472784841660507	0.38387	0.998755437533	0.74340	.	.	.	0.015184	0.14217	T	-0.15852	0.26989	T	-0.465479	0.26006	T	0.0334371195312871	0.02542	T	0.40366	0.10339	T	0.06939824	0.15199	0.11347337	0.27386	0.06939824	0.15199	0.11347337	0.27385	-5.013	0.36981	T	.	.	0.094	0.16099	B	.;.	.;.	0.919536	0.12943	9.451	0.98243554375309949	0.39503	0.33664	0.24883	N	AEFDGBHCI	0.079745	0.16113	N	-0.900762396031872	0.10824	0.5192024	-0.986978624898911	0.10077	0.505295	0.999999999949524	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.98	-1.28	0.08834	-0.456000	0.06829	-0.453000	0.09087	0.594000	0.32500	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2399:0.3757:0.2949:0.0896	3.217	0.06303	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	.	.	.	.	.	.	.	.	0.02632	1117.33	37	chr8	144528883	.	C	T	1117.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.447;DP=776;ExcessHet=0;FS=0.759;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.64;ReadPosRankSum=1.09;SOR=0.606	GT:AD:DP:GQ:PL	0/1:47,49:96:99:1131,0,1085	18	0	1	0
chr9	117371	117371	C	0	exonic	FOXD4	.	.	.	.	494	340	430	130	128	818	0.50365	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	5413.13	34	chr9	117371	.	C	*	5413.13	.	AC=7;AF=0.184;AN=38;BaseQRankSum=1.27;DP=562;ExcessHet=0.5308;FS=2.672;InbreedingCoeff=0.1364;MLEAC=7;MLEAF=0.184;MQ=45.91;MQRankSum=-4.389;QD=13.04;ReadPosRankSum=0.019;SOR=0.931	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,25:33:99:1|0:117366_C_CCG:1293,265,288:117366	13	1	5	0
chr9	17394898	17394898	G	A	exonic	CNTLN	.	nonsynonymous SNV	CNTLN:NM_001365029:exon15:c.G2444A:p.R815K,CNTLN:NM_017738:exon15:c.G2444A:p.R815K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.00555132211887	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.30800	T	0.959	0.02555	T	0.001	0.07471	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	2.43	0.70455	M	2.28	0.17271	T	-0.23	0.10656	N	0.063	0.03502	-1.0542	0.13251	T	0.034	0.14509	T	9	0.048118144	0.04220	T	0.005551	0.14319	T	0.051	0.14325	0.175	0.08135	0.0138822411134	0.00435	0.08290319736704431	0.08225	.	.	0.254007339478	0.04202	T	.	.	.	-0.295442	0.09096	T	-0.662159	0.08121	T	0.156047766135084	0.17575	T	0.545245	0.18642	T	.	.	.	.	.	.	.	.	-2.256	0.04321	T	.	.	0.087	0.11317	B	.	.	0.662919	0.10314	7.044	0.82669416985350519	0.14313	0.11488	0.16667	N	AEFBI	0.197634	0.32454	N	-0.557201951319926	0.20259	1.066638	-0.555495126006756	0.20660	1.114103	0.999914629383495	0.45857	0.730579	0.87903	0	0.573888	0.26702	0	0.749866	0.98131	0	0.635551	0.53088	0	.	.	5.93	4.11	0.47350	1.357000	0.33694	4.081000	0.41738	0.676000	0.76740	0.006000	0.17386	1.000000	0.68203	0.450000	0.27895	0.2189:0.1324:0.5118:0.1369	2.168	0.03608	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	.	.	.	.	.	.	.	.	0.02632	68.33	35	chr9	17394898	.	G	A	68.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.148;DP=808;ExcessHet=0;FS=43.675;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.83;ReadPosRankSum=0.007;SOR=4.972	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:71,11:82:82:0|1:17394898_G_A:82,0,2493:17394898	18	0	1	0
chr9	17394900	17394900	T	C	exonic	CNTLN	.	nonsynonymous SNV	CNTLN:NM_001365029:exon15:c.T2446C:p.S816P,CNTLN:NM_017738:exon15:c.T2446C:p.S816P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.00857619360364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.916e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.41096	D	0.184	0.29056	T	0.023	0.18885	B	0.032	0.22131	B	.	.	.	.	1	0.08975	N	2.35	0.67516	M	2.09	0.20122	T	-1.05	0.27463	N	0.166	0.17553	-1.0529	0.13601	T	0.050	0.21261	T	9	0.062128216	0.07898	T	0.008576	0.22680	T	0.013	0.01715	0.124	0.03018	0.0297737177859	0.01360	0.0983252962362964	0.09763	.	.	0.307184994221	0.11482	T	.	.	.	-0.237601	0.15655	T	-0.579074	0.14628	T	0.179341226816177	0.19193	T	0.419458	0.11115	T	.	.	.	.	.	.	.	.	-4.872	0.35419	T	.	.	0.083	0.09288	B	.	.	1.111941	0.14971	11.48	0.99448444149393045	0.65122	0.14148	0.18248	N	AEFBI	0.332060	0.43159	N	-0.652069549857985	0.17401	0.8950572	-0.713489754841712	0.16625	0.8803607	0.999376316363295	0.39355	0.730579	0.87903	0	0.573888	0.26702	0	0.749866	0.98131	0	0.635551	0.53088	0	.	.	5.93	0.064	0.13665	-0.219000	0.09233	0.156000	0.15349	0.665000	0.62972	0.000000	0.06391	0.714000	0.26310	0.442000	0.27716	0.1976:0.0683:0.2075:0.5266	2.882	0.05302	651	0.62880	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	68.43	35	chr9	17394900	.	T	C	68.43	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.209;DP=1086;ExcessHet=0;FS=96.731;InbreedingCoeff=-0.0326;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.83;ReadPosRankSum=0.676;SOR=6.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:71,11:82:82:0|1:17394898_G_A:82,0,2493:17394898	18	0	1	0
chr9	18777044	18777044	C	G	exonic	ADAMTSL1	.	nonsynonymous SNV	ADAMTSL1:NM_001040272:exon19:c.C2815G:p.P939A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.256	0.0092419257184	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1327662055	1.37e-06	1.368e-06	0	2.756e-06	2.241e-05	2.3e-07	9e-08	.	.	0	2.241e-05	0	0	0	0	0	1.66e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.989	0.62824	D	0.754	0.56161	P	0.652352	0.10501	N	0.459183	0.99866	0.45243	D	0.04	0.08086	N	2.81	0.10975	T	0.11	0.05706	N	0.28	0.31702	-1.0834	0.06702	T	0.033	0.14247	T	10	0.22330564	0.39105	T	0.009242	0.24272	T	0.256	0.56694	0.534	0.64293	0.269111216191	0.26524	0.2573257840889633	0.25646	0.341058034284	0.36042	0.43762421608	0.30252	T	0.009132	0.08331	T	-0.125712	0.32192	T	-0.335488	0.40855	T	0.195748052247652	0.20178	T	0.725127	0.33902	T	0.044460442	0.07110	0.08472923	0.19511	0.044460442	0.07109	0.08472923	0.19510	-2.793	0.08119	T	.	.	0.078	0.06710	B	.	.	1.788610	0.22740	15.74	0.64331164803123886	0.07464	0.91988	0.54698	D	AEFDBI	0.441494	0.49961	N	0.0165611658780883	0.42608	2.570515	0.0624439336180075	0.42678	2.585541	0.999992672685744	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.618467	0.43123	0	0.714379	0.83352	0	.	.	5.34	5.34	0.75982	1.832000	0.38791	4.060000	0.41579	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.935000	0.47363	0.0:1.0:0.0:0.0	19.053	0.93036	884	0.28482	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	.	.	.	.	.	.	.	.	0.05263	1990.81	69	chr9	18777044	.	C	G	1990.81	.	AC=2;AF=0.053;AN=38;DP=1136;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=32.11;SOR=0.758	GT:AD:DP:GQ:PL	1/1:0,62:62:99:2018,185,0	18	1	0	0
chr9	35906586	35906586	-	CCACCACCACCACCACCCCCACCACCACCCCCGCCACACCCCTCACCACCTCCACCACCACCA	exonic	HRCT1	.	nonframeshift insertion	HRCT1:NM_001039792:exon1:c.299_300insCCACCACCACCACCACCCCCACCACCACCCCCGCCACACCCCTCACCACCTCCACCACCACCA:p.H107_R108insHHPRHTPHHLHHHHHHHHHPH	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.664e-05	9.33e-05	6.002e-05	0.0001	0.0004	7.273e-05	6.682e-05	0.0003	0.0003	7.674e-05	5.424e-05	0	0	0.0001	0	6.055e-05	0.0001	0.0004	3.402e-05	5.966e-05	0	7.264e-05	0.0004	5.64e-06	2.11e-06	.	.	0	0	0	0	0	0	0	3.457e-05	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	5546.49	51	chr9	35906586	.	T	TCCACCACCACCACCACCCCCACCACCACCCCCGCCACACCCCTCACCACCTCCACCACCACCA	5546.49	.	AC=1;AF=0.028;AN=36;BaseQRankSum=0.915;DP=857;ExcessHet=1.1637;FS=1.684;InbreedingCoeff=-0.037;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=24.76;ReadPosRankSum=1.23;SOR=0.827	GT:AD:DP:GQ:PL	0/1:1,8:12:11:288,0,11	17	0	1	1
chr9	41922773	41922773	-	T	exonic	CNTNAP3B	.	frameshift insertion	CNTNAP3B:NM_001201380:exon17:c.2658dupA:p.G887Rfs*7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	360.29	47	chr9	41922773	.	C	CT	360.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.086;DP=819;ExcessHet=0;FS=2.561;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=27.07;MQRankSum=1.77;QD=6.67;ReadPosRankSum=-0.076;SOR=0.803	GT:AD:DP:GQ:PL	0/1:38,16:54:99:374,0,1146	18	0	1	0
chr9	42013399	42013399	C	T	exonic	CNTNAP3B	.	nonsynonymous SNV	CNTNAP3B:NM_001201380:exon4:c.G517A:p.E173K	.	.	.	.	.	.	.	.	.	.	.	3650737	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs775060475	0.0001	0.0002	0.0001	0.0001	0.0003	0.0001	9.265e-05	0.0002	0.0001	0	0.0002	0.0001	0	0	0	0.0002	0	0.0003	0.0001	0.0002	0.0002	4.713e-05	0.0003	6.965e-05	4.857e-05	0.0001	8.584e-05	0	0	0	0	0	0	0	0.0003	0	0	0.008	0.58626	D	0.004	0.74150	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.13	0.99538	D	-3.55	0.68764	D	0.86	0.86297	.	.	.	.	.	.	.	0.82764006	0.81937	D	.	.	.	.	.	.	.	0.810141781319	0.80835	0.7522837676988433	0.75175	.	.	0.705412149429	0.67928	T	0.73537	0.92626	D	0.554588	0.95994	D	0.558851	0.95933	D	.	.	.	0.994562	0.98476	D	0.09052239	0.21185	0.28604808	0.54611	0.09052239	0.21185	0.28604808	0.54610	-9.965	0.73702	D	.	.	0.852	0.79883	P	.;.;.;.;.	.;.;.;.;.	4.566595	0.72014	25.8	0.93024620375800282	0.22622	0.84209	0.43292	D	AEFI	.	.	.	.	.	.	.	.	.	0.0552111489119693	0.15007	0.294411	0.05044	0	0.063388	0.01293	0	0.078618	0.02440	0	0.347871	0.05795	0	0.686874	0.42542	1.97	1.97	0.25278	7.100000	0.76641	7.316000	0.58145	0.275000	0.18574	1.000000	0.71638	1.000000	0.68203	0.866000	0.41154	0.0:1.0:0.0:0.0	9.496	0.38154	994	0.00715	Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain;Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain;Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain;Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain;Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	48.79	10	chr9	42013399	.	C	T	48.79	.	AC=1;AF=0.028;AN=36;BaseQRankSum=2.52;DP=158;ExcessHet=0;FS=0;InbreedingCoeff=-0.0331;MLEAC=1;MLEAF=0.028;MQ=24.35;MQRankSum=0.967;QD=5.42;ReadPosRankSum=-0.366;SOR=0.283	GT:AD:DP:GQ:PL	0/1:6,3:9:62:62,0,145	17	0	1	1
chr9	66986995	66986995	T	C	exonic	SPATA31A3	.	nonsynonymous SNV	SPATA31A3:NM_001083124:exon4:c.A3503G:p.K1168R	.	429	1077	14	2	0	18	0.00828729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.00429452669895	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs565889169	0.0008	0.0008	0.0005	0.0010	0.0083	0.0007	0.0007	0.0078	0.0076	0	0.0005	0	0	0	0.0039	0.0003	0.0008	0.0083	0.0003	0.0004	0.0003	0.0003	0.0072	0.0002	0.0002	0.0052	0.0045	2.665e-05	0	0.0003	0	0	0	0	0.0001	0.0005	0.0072	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.03502	.	.	.	.	.	.	.	0.07321933	0.11035	T	.	.	.	.	.	.	.	.	.	0.0417573156486076	0.04120	.	.	.	.	.	0.001858	0.01270	T	.	.	.	.	.	.	.	.	.	0.548145	0.18826	T	.	.	.	.	.	.	.	.	-3.137	0.11726	T	.	.	0.086	0.10594	B	.	.	-0.155796	0.03325	0.581	.	.	.	.	.	.	0.010708	0.00081	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.145000	0.10248	-15.955000	0.00333	0.232000	0.18153	0.000000	0.06391	0.000000	0.08366	0.087000	0.17632	.	.	.	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	.	.	.	.	.	.	.	.	0.07895	5169.79	37	chr9	66986995	.	T	C	5169.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.594;DP=1328;ExcessHet=0.3672;FS=32.074;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=34.6;MQRankSum=-1.668;QD=9.13;ReadPosRankSum=-0.716;SOR=2.24	GT:AD:DP:GQ:PL	0/1:106,77:183:99:1782,0,2928	16	0	3	0
chr9	66988613	66988613	C	T	exonic	SPATA31A3	.	nonsynonymous SNV	SPATA31A3:NM_001083124:exon4:c.G1885A:p.E629K	.	677	841	2	2	0	6	0.0035545	.	.	.	2828903	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs369062848	0.0006	0.0005	0.0005	0.0007	0.0107	0.0006	0.0005	0.0098	0.0095	0	0.0005	0	0.0107	0	0.0021	0.0001	0.0007	0.0009	0.0002	0.0002	0.0003	0.0002	0.0019	0.0002	0.0001	0.0010	0.0007	0	0	0.0001	0	0.0019	0	0.0085	0.0002	0.0021	0	.	.	.	0.302	0.20228	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	0.07673	.	.	.	.	.	.	.	0.052081168	0.05187	T	.	.	.	.	.	.	.	.	.	0.10963320216239393	0.10892	.	.	.	.	.	0.001801	0.01223	T	.	.	.	.	.	.	.	.	.	0.539346	0.18229	T	.	.	.	.	.	.	.	.	-4.653	0.32830	T	.	.	0.079	0.07177	B	.	.	-0.520961	0.01801	0.140	.	.	.	.	.	.	0.018617	0.00577	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.283000	0.02904	-20.000000	0.00162	0.228000	0.18124	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	.	.	.	994	0.00715	SPATA31/FAM205	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05263	3514.19	1	chr9	66988613	.	C	T	3514.19	.	AC=2;AF=0.053;AN=38;DP=707;ExcessHet=0;FS=0;InbreedingCoeff=0.8477;MLEAC=2;MLEAF=0.053;MQ=39.29;QD=29.28;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,120:120:99:3541,360,0	18	1	0	0
chr9	66988843	66988843	A	C	exonic	SPATA31A3	.	nonsynonymous SNV	SPATA31A3:NM_001083124:exon4:c.T1655G:p.L552R	.	821	700	0	1	0	2	0.00142653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.0012591625174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.635e-05	2.473e-05	9.48e-06	4.261e-05	0.0002	1.605e-05	1.312e-05	0.0001	0.0001	0	0	0	0	0	0	4.584e-06	6.425e-05	0.0002	0	2.085e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.315	0.35514	.	.	.	.	.	.	.	0.10117969	0.18471	T	.	.	.	.	.	.	.	.	.	0.22791074430706124	0.22706	.	.	.	.	.	0.01046	0.09443	T	.	.	.	.	.	.	.	.	.	0.475152	0.14192	T	.	.	.	.	.	.	.	.	-7.438	0.57172	T	.	.	0.100	0.17232	B	.	.	0.864381	0.12371	8.907	.	.	.	.	.	.	0.031605	0.03414	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092000	0.14905	-5.921000	0.01552	0.260000	0.18395	0.000000	0.06391	0.000000	0.08366	0.272000	0.23818	.	.	.	994	0.00715	SPATA31/FAM205	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	369.61	.	chr9	66988843	.	A	C	369.61	.	AC=2;AF=0.056;AN=36;DP=284;ExcessHet=0;FS=0;InbreedingCoeff=0.9883;MLEAC=2;MLEAF=0.056;MQ=23.73;QD=26.4;SOR=5.421	GT:AD:DP:GQ:PL	1/1:0,14:14:42:396,42,0	17	1	0	1
chr9	87885239	87885239	C	T	exonic	SPATA31E1	.	nonsynonymous SNV	SPATA31E1:NM_178828:exon4:c.C752T:p.P251L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.00551260220522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.573e-06	6.566e-06	0	1.346e-05	6.542e-05	0	0	.	.	0	0	6.542e-05	0	0	0	0	0	0	0	0.002	0.72154	D	0.037	0.51737	D	0.006	0.13644	B	0.009	0.14300	B	.	.	.	.	1	0.08975	N	1.1	0.28011	L	2.61	0.13095	T	-4.51	0.78222	D	0.177	0.19055	-0.9665	0.37914	T	0.018	0.07612	T	9	0.06341645	0.08259	T	0.005513	0.14197	T	0.006	0.00375	0.304	0.27325	0.0551355673512	0.04727	0.09408880273607319	0.09340	0.0153499523164	0.01465	0.412933588028	0.26863	T	0.02488	0.18712	T	-0.326554	0.06375	T	-0.706848	0.05459	T	0.0894519249439503	0.11152	T	0.533547	0.17787	T	0.05449232	0.10461	0.07063925	0.15032	0.05449232	0.10460	0.07063925	0.15031	-4.469	0.30481	T	.	.	0.081	0.08417	B	.	.	0.864668	0.12371	8.910	0.49056081467006352	0.04145	0.00171	0.01011	N	AEFBI	0.024724	0.01577	N	-1.4171675354572	0.02488	0.1099246	-1.51089496581177	0.02260	0.103665	0.734612682285564	0.23109	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	0.838	-0.195	0.12586	-0.633000	0.05581	-4.320000	0.02219	-0.389000	0.05354	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.6837:0.0:0.3163	3.462	0.07103	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	.	.	.	.	.	.	.	.	0.02632	1426.33	34	chr9	87885239	.	C	T	1426.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.285;DP=797;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.64;ReadPosRankSum=-1.078;SOR=0.7	GT:AD:DP:GQ:PL	0/1:75,59:134:99:1440,0,1980	18	0	1	0
chr9	92080918	92080918	G	C	exonic	SPTLC1	.	nonsynonymous SNV	SPTLC1:NM_001281303:exon4:c.C306G:p.N102K,SPTLC1:NM_006415:exon4:c.C306G:p.N102K,SPTLC1:NM_178324:exon4:c.C306G:p.N102K	Neuropathy, hereditary sensory and autonomic, type IA, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.845	0.399896509883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0068	0.0012	0.0010	0.0013	0.0011	0.0010	0.0013	0.0012	0.0012	4.477e-05	0.0003	0.0002	1.873e-05	0.0009	0.0013	0.0009	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.005	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.83	0.95627	H	-3.73	0.95458	D	-5.47	0.87143	D	0.946	0.96984	1.004	0.97255	D	0.941	0.98064	D	10	0.97626525	0.97408	D	0.399897	0.93374	D	0.845	0.95175	0.798	0.91802	0.945416172085	0.94484	0.9614716476571766	0.96133	1.13632118652	0.78799	0.737543225288	0.72611	T	0.97255	0.99710	D	0.219858	0.75763	D	0.0780339	0.75447	D	0.995089709758759	0.86803	D	0.978602	0.92442	D	0.9519136	0.96460	0.8880654	0.94130	0.9519136	0.96460	0.8880654	0.94130	-14.216	0.93737	D	0.860758186576928	0.92428	0.988	0.93037	P	.;.	.;.	4.020987	0.59386	24.1	0.9926344721683531	0.57289	0.83408	0.42527	D	AEFBI	0.256177	0.37516	N	0.211284656944223	0.51746	3.353416	0.0637648407406021	0.42742	2.59063	0.00398181740670549	0.10368	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.0	2.15	0.26590	1.717000	0.37612	4.300000	0.42938	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.3508:0.0:0.6492:0.0	10.600	0.44552	892	0.26670	Aminotransferase, class I/classII;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4737	14305.3	565	chr9	92080918	.	G	C	14305.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-3.988;DP=7105;ExcessHet=38.2876;FS=417.684;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=2.21;ReadPosRankSum=1.11;SOR=15.946	GT:AD:DP:GQ:PL	0/1:188,137:335:99:950,0,3161	1	0	18	0
chr9	110137052	110137052	G	C	exonic	PALM2AKAP2	.	nonsynonymous SNV	PALM2AKAP2:NM_001004065:exon2:c.G1082C:p.R361T,PALM2AKAP2:NM_001136562:exon2:c.G815C:p.R272T,PALM2AKAP2:NM_001198656:exon2:c.G1082C:p.R361T,PALM2AKAP2:NM_007203:exon8:c.G1508C:p.R503T,PALM2AKAP2:NM_147150:exon8:c.G1508C:p.R503T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.0618637391386	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.424e-06	0.0004	4.089e-06	2.753e-06	3.602e-06	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.602e-06	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.024	0.57104	D	0.949	0.65571	P	0.496	0.73820	P	0.002376	0.36688	N	0.265487	0.528475	0.31955	D	2.125	0.59049	M	0.88	0.46028	T	-1.48	0.56144	N	0.354	0.44857	-0.5485	0.66844	T	0.199	0.55442	T	10	0.25693607	0.43103	T	0.061864	0.68469	D	0.118	0.32913	0.194	0.10571	0.52468985305	0.52114	0.3132723605175298	0.31240	0.508839714498	0.49031	0.421055316925	0.27981	T	0.068456	0.33461	T	-0.00465218	0.51011	T	-0.244459	0.50362	T	0.82229095697403	0.47942	D	0.916508	0.71628	D	0.14253841	0.32799	0.105709225	0.25417	0.14253841	0.32798	0.105709225	0.25416	-6.736	0.54231	T	.	.	0.488	0.66996	A	.;.;.;.;.;.	.;.;.;.;.;.	3.479942	0.48587	22.6	0.93161729188529674	0.22814	0.93481	0.58334	D	AEFBCIJ	0.371545	0.45752	N	0.194427995474043	0.50931	3.278602	0.1677655242984	0.48093	3.029822	0.999992215884336	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.80507	0.99327	0	0.711	0.71501	0	.	.	5.63	4.73	0.59485	3.590000	0.53726	5.886000	0.50702	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.013000	0.09966	0.1723:0.0:0.8277:0.0	8.596	0.32880	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	.	.	.	.	.	.	.	.	0.2083	885.98	94	chr9	110137052	.	G	C	885.98	.	AC=5;AF=0.208;AN=24;BaseQRankSum=-2.727;DP=1351;ExcessHet=1.3;FS=149.897;InbreedingCoeff=-0.3039;MLEAC=7;MLEAF=0.292;MQ=60;MQRankSum=0;QD=2.1;ReadPosRankSum=2.02;SOR=9.75	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,15:93:99:0|1:110137052_G_C:135,0,2954:110137052	7	0	5	7
chr9	110137054	110137054	G	C	exonic	PALM2AKAP2	.	nonsynonymous SNV	PALM2AKAP2:NM_001004065:exon2:c.G1084C:p.A362P,PALM2AKAP2:NM_001136562:exon2:c.G817C:p.A273P,PALM2AKAP2:NM_001198656:exon2:c.G1084C:p.A362P,PALM2AKAP2:NM_007203:exon8:c.G1510C:p.A504P,PALM2AKAP2:NM_147150:exon8:c.G1510C:p.A504P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	0.0240367102959	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.656e-05	0.0033	4.12e-05	3.187e-05	0.0002	2.851e-05	2.586e-05	3.493e-05	3.152e-05	3.008e-05	0	3.836e-05	0	0	0.0002	4.541e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	0.27904	T	0.206	0.31833	T	0.98	0.77913	D	0.731	0.84481	P	0.000361	0.45440	D	0.192211	0.801683	0.34520	D	1.6	0.40776	L	0.85	0.47130	T	-0.13	0.17417	N	0.259	0.43029	-0.7007	0.60404	T	0.211	0.57174	T	10	0.23016733	0.39961	T	0.024037	0.47022	T	0.106	0.30130	0.217	0.13788	0.713993983955	0.71148	0.23740471580261735	0.29225	0.516168458663	0.49506	0.390263020992	0.23706	T	0.030762	0.21729	T	-0.0678756	0.41665	T	-0.335275	0.40877	T	0.783624947071075	0.45278	D	0.90061	0.65471	D	0.24448925	0.47398	0.26249248	0.52042	0.24448925	0.47398	0.26249248	0.52041	-8.416	0.66933	D	.	.	0.663	0.75561	P	.;.;.;.;.;.	.;.;.;.;.;.	4.039548	0.59798	24.1	0.98775053701776594	0.46033	0.67690	0.33524	D	AEFBCIJ	0.269496	0.38576	N	0.281387811107843	0.55205	3.684758	0.278666808938951	0.54296	3.594986	0.999998236571977	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.80507	0.99327	0	0.711	0.71501	0	.	.	5.42	4.46	0.53567	3.170000	0.50516	7.765000	0.68366	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.024000	0.12247	0.0:0.3075:0.6925:0.0	11.752	0.51121	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	.	.	.	.	.	.	.	.	0.08824	735.86	94	chr9	110137054	.	G	C	735.86	.	AC=3;AF=0.088;AN=34;BaseQRankSum=-3.926;DP=1423;ExcessHet=0.7564;FS=146.64;InbreedingCoeff=-0.1527;MLEAC=3;MLEAF=0.088;MQ=60;MQRankSum=0;QD=2.08;ReadPosRankSum=1.71;SOR=9.25	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,15:93:99:0|1:110137052_G_C:135,0,2954:110137052	14	0	3	2
chr9	112416942	112416948	GTGGTAG	-	exonic	HSDL2	.	nonframeshift deletion	HSDL2:NM_032303:exon5:c.497_499del:p.C166_A167delinsS	.	424	1093	5	0	0	5	0.00228206	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	8.969e-05	0	0	7.78e-05	0	0.0010	0.0001358	21	154602	rs753784761	8.629e-05	0.0001	6.066e-05	0.0001	0.0016	7.332e-05	6.851e-05	0.0008	0.0006	0	0.0001	0	2.564e-05	1.876e-05	0.0016	3.441e-05	0.0001	0.0007	8.535e-05	8.53e-05	3.855e-05	0.0001	0.0008	4.953e-05	3.96e-05	0.0003	0.0002	4.811e-05	0	0	0	0	0	0	0.0001	0	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	3630.75	42	chr9	112416941	.	TGTGGTAG	T	3630.75	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.484;DP=796;ExcessHet=0.3672;FS=2.458;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=17.37;ReadPosRankSum=0.947;SOR=0.523	GT:AD:DP:GQ:PL	0/1:37,34:71:99:1266,0,1451	16	0	3	0
chr9	114325111	114325111	C	T	exonic	ORM1	.	nonsynonymous SNV	ORM1:NM_000607:exon5:c.C499T:p.R167C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.00594655606259	.	0.00139776	0.0003	0.0007	0.0004	0.0005	0	0.0002	0	0.0003	0.0002587	40	154602	rs3182034	0.0002	0.0003	0.0002	0.0002	0.0010	0.0002	0.0002	0.0008	0.0008	0.0002	0.0008	0	0.0003	1.873e-05	0.0003	0.0001	0.0003	0.0010	0.0003	0.0006	0.0002	0.0004	0.0010	0.0002	0.0002	0.0004	0.0003	0.0002	0	0.0006	0	0.0004	9.413e-05	0	0.0003	0	0.0010	0.078	0.33923	T	0.053	0.47336	T	.	.	.	.	.	.	0.039689	0.24142	N	0.463309	1	0.08975	N	.	.	.	2.92	0.09915	T	-0.83	0.22727	N	0.352	0.39356	-0.9894	0.32753	T	0.010	0.03719	T	10	0.019061506	0.00421	T	0.005947	0.15520	T	0.077	0.22490	.	.	0.318828661733	0.31499	0.4019293164198957	0.40108	0.0484704390653	0.05293	0.29114612937	0.09089	T	.	.	.	-0.472758	0.00817	T	-0.542216	0.18079	T	0.0319993276099982	0.02307	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.138	0.30130	B	.	.	2.675675	0.34894	19.75	0.96603082795995965	0.30412	0.03784	0.09106	N	AEFDBI	0.543389	0.55873	D	-0.74538554770408	0.14759	0.7379393	-0.791118088925651	0.14713	0.770191	0.999977254964329	0.50053	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.24	2.35	0.28166	1.942000	0.39870	5.106000	0.47475	-1.461000	0.01082	0.084000	0.22438	1.000000	0.68203	0.003000	0.05239	0.1104:0.1957:0.6939:0.0	6.185	0.19708	603	0.67726	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	377.33	43	chr9	114325111	.	C	T	377.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.17;DP=723;ExcessHet=0;FS=16.968;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=55.27;MQRankSum=-7.942;QD=4.34;ReadPosRankSum=-0.674;SOR=2.92	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:72,15:87:99:0|1:114325111_C_T:391,0,2896:114325111	18	0	1	0
chr9	114325121	114325121	A	G	exonic	ORM1	.	nonsynonymous SNV	ORM1:NM_000607:exon5:c.A509G:p.K170R	.	401	1116	5	0	0	5	0.00223514	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	.	.	0.0081869	0.0068	0.0009	0.0355	0.0199	0.0089	0.0010	0.0055	0.0061	0.0060284	932	154602	rs3182041	0.0027	0.0029	0.0028	0.0026	0.0284	0.0026	0.0026	0.0271	0.0266	0.0003	0.0284	0.0007	0.0210	0.0089	0.0007	0.0005	0.0031	0.0065	0.0034	0.0039	0.0025	0.0044	0.0188	0.0032	0.0031	0.0157	0.0146	0.0007	0	0.0129	0.0006	0.0188	0.0105	0	0.0005	0.0047	0.0077	0.483	0.08164	T	0.331	0.18505	T	.	.	.	.	.	.	0.794680	0.09370	N	0.909326	1	0.08975	N	.	.	.	2.9	0.10101	T	-1.11	0.28703	N	0.149	0.15187	-0.9381	0.42916	T	0.012	0.04653	T	10	0.0033569932	0.00058	T	.	.	.	0.015	0.02232	.	.	0.134241683229	0.13084	0.13767854731450643	0.13691	0.0368184653303	0.03901	0.270562678576	0.06214	T	.	.	.	-0.655372	0.00067	T	-0.691175	0.06322	T	0.00336366837632243	0.00035	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.00742	B	.	.	1.639225	0.20919	14.97	0.45165816637848777	0.03525	0.03769	0.09084	N	AEFDBI	0.325280	0.42691	N	-1.54747194815452	0.01549	0.06768006	-1.5700945147274	0.01841	0.08388226	0.999968234965424	0.48965	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.23	-1.95	0.07135	0.337000	0.19582	1.642000	0.27798	-1.187000	0.01379	0.000000	0.06391	0.001000	0.17328	0.008000	0.08271	0.5481:0.1373:0.1806:0.1341	1.798	0.02881	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	0	0	0.002188	0.000000	0.001362	0.000000	0.000000	0.000000	0.009868	0.000000	0.02632	294.33	43	chr9	114325121	.	A	G	294.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.97;DP=727;ExcessHet=0;FS=11.868;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.02;MQRankSum=-8.517;QD=3.34;ReadPosRankSum=0.423;SOR=2.494	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,13:88:99:0|1:114325111_C_T:308,0,2950:114325111	18	0	1	0
chr9	119167448	119167448	G	A	exonic	BRINP1	.	nonsynonymous SNV	BRINP1:NM_014618:exon8:c.C1922T:p.S641L	.	.	.	.	.	.	.	.	.	.	.	700772	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.138	.	0.0069	0.00319489	0.0073	0.0013	0.0020	0.0001	0.0178	0.0104	0.0066	0.0015	0.0071215	1101	154602	rs139063583	0.0089	0.0089	0.0089	0.0089	0.0100	0.0088	0.0087	0.0099	0.0098	0.0010	0.0021	0.0029	0	0.0204	0.0003	0.0100	0.0074	0.0019	0.0073	0.0073	0.0072	0.0074	0.0117	0.0069	0.0068	0.0110	0.0107	0.0016	0	0.0013	0.0032	0.0002	0.0188	0	0.0117	0.0019	0.0023	0.353	0.12187	T	0.399	0.15059	T	0.216	0.30161	B	0.028	0.21332	B	0.000007	0.62929	D	0.112090	0.999999	0.58761	D	1.01	0.25309	L	2.53	0.14038	T	-0.75	0.21003	N	0.525	0.55453	-1.0601	0.11731	T	0.015	0.05946	T	10	0.0076669157	0.00174	T	.	.	.	0.138	0.37187	.	.	0.117191471859	0.11215	0.26866108060260835	0.26779	0.39247334907	0.40423	0.734042823315	0.72097	T	0.036867	0.24264	T	-0.426653	0.01553	T	-0.373958	0.36428	T	0.0158268092588526	0.00370	T	0.916108	0.70062	D	0.12945026	0.30235	0.1501455	0.35422	0.12945026	0.30235	0.1501455	0.35422	-3.649	0.18568	T	.	.	0.129	0.27463	B	.	.	3.869771	0.56179	23.7	0.99591147055518081	0.73631	0.98651	0.85151	D	AEFBI	0.908555	0.86402	D	0.167796136201305	0.49658	3.163695	0.366752449451644	0.59523	4.130884	0.999999594771409	0.74766	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.61	5.61	0.85347	7.765000	0.84139	11.790000	0.96346	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	20.022	0.97505	491	0.76657	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002518	0.005051	0.000000	0.000000	0.000000	0.000000	0.006098	0.007576	0.02632	3955.33	36	chr9	119167448	.	G	A	3955.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.64;DP=924;ExcessHet=0;FS=0.937;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.87;ReadPosRankSum=-0.426;SOR=0.692	GT:AD:DP:GQ:PL	0/1:125,141:266:99:3969,0,3121	18	0	1	0
chr9	121327383	121327383	G	A	exonic	GSN	.	nonsynonymous SNV	GSN:NM_000177:exon13:c.G1816A:p.V606M,GSN:NM_001127662:exon13:c.G1663A:p.V555M,GSN:NM_001258029:exon13:c.G1714A:p.V572M,GSN:NM_001258030:exon13:c.G1687A:p.V563M,GSN:NM_001353078:exon13:c.G1009A:p.V337M,GSN:NM_001353055:exon14:c.G1663A:p.V555M,GSN:NM_001353057:exon14:c.G1663A:p.V555M,GSN:NM_001353062:exon14:c.G1663A:p.V555M,GSN:NM_001353063:exon14:c.G1696A:p.V566M,GSN:NM_001353067:exon14:c.G1696A:p.V566M,GSN:NM_001353075:exon14:c.G1696A:p.V566M,GSN:NM_001353077:exon14:c.G1696A:p.V566M,GSN:NM_198252:exon14:c.G1663A:p.V555M,GSN:NM_001127663:exon15:c.G1771A:p.V591M,GSN:NM_001127664:exon15:c.G1663A:p.V555M,GSN:NM_001127665:exon15:c.G1663A:p.V555M,GSN:NM_001127666:exon15:c.G1696A:p.V566M,GSN:NM_001127667:exon15:c.G1696A:p.V566M,GSN:NM_001353056:exon15:c.G1663A:p.V555M,GSN:NM_001353058:exon15:c.G1663A:p.V555M,GSN:NM_001353059:exon15:c.G1663A:p.V555M,GSN:NM_001353060:exon15:c.G1663A:p.V555M,GSN:NM_001353061:exon15:c.G1663A:p.V555M,GSN:NM_001353070:exon15:c.G1696A:p.V566M,GSN:NM_001353076:exon15:c.G1735A:p.V579M,GSN:NM_001353064:exon16:c.G1696A:p.V566M,GSN:NM_001353065:exon16:c.G1696A:p.V566M,GSN:NM_001353066:exon16:c.G1696A:p.V566M,GSN:NM_001353068:exon16:c.G1696A:p.V566M,GSN:NM_001353069:exon16:c.G1696A:p.V566M,GSN:NM_001353071:exon16:c.G1696A:p.V566M,GSN:NM_001353072:exon16:c.G1696A:p.V566M,GSN:NM_001353074:exon16:c.G1696A:p.V566M,GSN:NM_001353073:exon17:c.G1696A:p.V566M,GSN:NM_001353053:exon22:c.G1663A:p.V555M,GSN:NM_001353054:exon22:c.G1663A:p.V555M	Amyloidosis, Finnish type, Autosomal dominant	1	1504	17	0	0	17	0.00561983	.	.	.	306669	GSN-related_disorder|Finnish_type_amyloidosis|not_provided|not_specified|Inborn_genetic_diseases	.|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120,Orphanet:85448|MedGen:C3661900|MedGen:CN169374|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.157	0.0102909257659	0.0009	0.000798722	0.0018	0	0.0009	0	0	0.0010	0.0024	0.0080	0.0014877	230	154602	rs151208452	0.0013	0.0013	0.0012	0.0014	0.0063	0.0013	0.0013	0.0059	0.0057	0.0001	0.0005	3.828e-05	2.519e-05	0	0.0047	0.0011	0.0012	0.0063	0.0008	0.0008	0.0008	0.0008	0.0064	0.0007	0.0007	0.0047	0.0041	0.0002	0	0.0003	0	0	0	0	0.0012	0	0.0064	0.186	0.25255	T	0.206	0.27235	T	0.947	0.53479	P	0.457	0.46318	P	0.000001	0.84330	D	0.054041	1	0.81001	D	1.63	0.41750	L	0.38	0.57575	T	-0.35	0.13035	N	0.435	0.49692	-0.8108	0.54502	T	0.202	0.55877	T	10	0.013479739	0.00286	T	0.010291	0.26654	T	0.157	0.40909	.	.	0.699710257013	0.69711	0.521274072422366	0.52050	0.467949728639	0.46158	0.621550559998	0.55948	T	0.011543	0.37601	T	-0.260311	0.12865	T	-0.142969	0.59859	T	0.0260639488021131	0.01415	T	0.885611	0.61095	D	0.23764327	0.46630	0.23299046	0.48476	0.26292863	0.49356	0.25219017	0.50843	-5.254	0.41407	T	0.3158636378475904	0.41390	0.117	0.23848	B	.;.;.;.;.;.	.;.;.;.;.;.	3.890001	0.56592	23.8	0.9978822435845478	0.87396	0.94826	0.62463	D	AEFGBCI	0.885727	0.81650	D	0.484190684313171	0.66168	4.915186	0.587876285547052	0.74070	6.074839	0.999999999999056	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	6.17	6.17	0.99707	5.892000	0.69531	5.928000	0.51272	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.930000	0.46718	0.0:0.0:1.0:0.0	19.868	0.96822	968	0.07033	.;.;Gelsolin-like domain;Gelsolin-like domain;.;Gelsolin-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005045	0.000000	0.004076	0.002924	0.000000	0.000000	0.012195	0.007634	0.02632	454.33	35	chr9	121327383	.	G	A	454.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.261;DP=735;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=4.25;ReadPosRankSum=0.876;SOR=0.703	GT:AD:DP:GQ:PL	0/1:79,28:107:99:468,0,1876	18	0	1	0
chr9	122724732	122724732	T	C	exonic	OR1L4	.	nonsynonymous SNV	OR1L4:NM_001005235:exon1:c.T743C:p.V248A	.	428	916	178	0	0	178	0.0885572	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00143063714583	.	.	6.622e-05	0	0.0002	0.0001	0.0002	6.017e-05	0	0	3.84e-05	1	26028	rs748975619	0.0001	0.0021	7.836e-05	0.0002	0.0008	0.0001	0.0001	0.0003	0.0002	9.132e-05	0.0002	7.963e-05	0.0002	4.349e-05	0.0008	0.0002	0.0003	3.688e-05	0.0002	0.0017	0.0001	0.0002	0.0005	0.0001	8.825e-05	8.643e-05	4.843e-05	0.0001	0	0.0002	0	0.0002	0.0003	0	0.0001	0	0.0005	0.066	0.36113	T	0.063	0.45110	T	0.002	0.09854	B	0.012	0.16012	B	0.119040	0.19091	N	0.433255	1	0.08975	N	2.24	0.63355	M	8.47	0.00218	T	-3.71	0.70674	D	0.163	0.17140	-0.9813	0.34701	T	0.000	0.00152	T	10	0.08632538	0.14663	T	0.001431	0.02139	T	0.060	0.17295	.	.	0.380730819819	0.37686	0.050310918284802233	0.04974	0.137390497862	0.15494	0.204048782587	0.00584	T	0.018055	0.14619	T	-0.26113	0.12768	T	-0.612872	0.11753	T	0.0930222347378731	0.11572	T	0.328467	0.06836	T	0.12669528	0.29668	0.18975647	0.42339	0.12669528	0.29667	0.18975647	0.42339	-5.477	0.41653	T	.	.	0.162	0.35767	B	.	.	1.361823	0.17710	13.32	0.37116804741921844	0.02427	0.22928	0.21909	N	AEFGBI	0.092843	0.18792	N	-1.18873539693136	0.05170	0.2350358	-1.18788360110161	0.06111	0.2931782	0.00732444700759022	0.11439	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.23	3.09	0.34677	0.354000	0.19885	0.254000	0.16463	-1.735000	0.00709	0.000000	0.06391	0.000000	0.08366	0.027000	0.12703	0.0:0.1836:0.0:0.8164	7.537	0.26888	889	0.27310	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.066465	0.232323	0.014946	0.032164	0.150000	0.008621	0.100610	0.034091	0.4	10786.3	429	chr9	122724732	.	T	C	10786.3	.	AC=12;AF=0.4;AN=30;BaseQRankSum=7.47;DP=5828;ExcessHet=11.1788;FS=27.147;InbreedingCoeff=-0.5846;MLEAC=14;MLEAF=0.467;MQ=58.23;MQRankSum=-15.38;QD=2.81;ReadPosRankSum=-6.896;SOR=4.085	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:260,43:303:99:0|1:122724732_T_C:938,0,10615:122724732	3	0	12	4
chr9	122724738	122724738	T	C	exonic	OR1L4	.	nonsynonymous SNV	OR1L4:NM_001005235:exon1:c.T749C:p.V250A	.	428	1012	82	0	0	82	0.0389364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.00138298223274	.	.	8.242e-06	0	0	0	0	1.499e-05	0	0	3.84e-05	1	26028	rs773750205	4.128e-06	0.0017	4.098e-06	4.158e-06	4.494e-05	1.49e-06	9.8e-07	7.45e-06	2.79e-06	2.995e-05	4.494e-05	0	2.533e-05	0	0	9.039e-07	1.665e-05	0	2.725e-05	0.0009	3.982e-05	1.4e-05	0.0002	8.37e-06	5.29e-06	.	.	2.5e-05	0	0	0	0	0.0002	0	0	0	0.0002	0.56	0.06381	T	0.334	0.18340	T	0.0	0.02946	B	0.003	0.08700	B	0.363490	0.04318	N	1.430160	1	0.08975	N	-0.355	0.03127	N	0.93	0.44065	T	0.28	0.04233	N	0.048	0.01999	-1.0082	0.27479	T	0.042	0.17994	T	10	0.027532607	0.00898	T	0.001383	0.02011	T	0.010	0.01040	.	.	0.146414634003	0.14194	0.029921180382566498	0.02941	0.133905216648	0.15082	0.228572815657	0.01864	T	0.008154	0.07505	T	-0.373075	0.03441	T	-0.773673	0.02649	T	0.0352781535904976	0.02857	T	0.0471953	0.00337	T	0.018524058	0.00374	0.028399432	0.01073	0.018524058	0.00374	0.028399432	0.01073	-3.488	0.16265	T	.	.	0.091	0.13127	B	.	.	-1.366501	0.00385	0.007	0.26517900806360473	0.01274	0.00656	0.02847	N	AEFGBI	0.051091	0.08994	N	-1.92157175688344	0.00310	0.01331125	-1.9879660246432	0.00325	0.01433726	0.679012312914238	0.22457	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.23	-7.85	0.01056	-3.495000	0.00503	-12.828000	0.00498	-1.735000	0.00709	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2704:0.1842:0.5455	8.760	0.33827	889	0.27310	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.375	7435.64	407	chr9	122724738	.	T	C	7435.64	.	AC=12;AF=0.375;AN=32;BaseQRankSum=2.09;DP=4871;ExcessHet=11.1788;FS=31.668;InbreedingCoeff=-0.551;MLEAC=13;MLEAF=0.406;MQ=58.35;MQRankSum=-16.61;QD=2.04;ReadPosRankSum=-6.486;SOR=5.823	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:256,36:292:99:0|1:122724732_T_C:741,0,10567:122724732	4	0	12	3
chr9	122789686	122789686	G	A	exonic	OR5C1	.	nonsynonymous SNV	OR5C1:NM_001001923:exon1:c.G754A:p.V252M	.	436	1063	22	1	0	24	0.0111628	.	.	.	2826378	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.171	0.00517600757222	0.0013	0.00199681	0.0017	0.0007	0.0015	0	0.0002	0.0021	0.0081	0.0020	0.0017205	266	154602	rs146508500	0.0017	0.0017	0.0016	0.0018	0.0233	0.0016	0.0016	0.0200	0.0188	0.0004	0.0017	0.0078	2.523e-05	0.0002	0.0233	0.0015	0.0029	0.0019	0.0016	0.0016	0.0018	0.0014	0.0029	0.0014	0.0014	0.0022	0.0020	0.0004	0	0.0029	0.0072	0	0	0.0068	0.0020	0.0047	0.0017	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.993	0.81110	D	0.005339	0.32892	U	0.000000	0.625033	0.32739	D	3.885	0.96017	H	7.81	0.00336	T	-2.73	0.58085	D	0.653	0.66358	-1.0661	0.10293	T	0.006	0.01907	T	10	0.025064677	0.00712	T	0.005176	0.13156	T	0.171	0.43483	.	.	0.776756999272	0.77470	0.2595692646264842	0.25870	0.499129830717	0.48365	0.362951487303	0.19815	T	0.107231	0.41927	T	-0.321699	0.06759	T	-0.241042	0.50697	T	0.0987876096057365	0.12224	T	0.89551	0.63622	D	0.43727034	0.63226	0.46495244	0.68948	0.43727034	0.63227	0.46495244	0.68948	-8.41	0.63831	D	.	.	0.220	0.44999	B	.	.	4.386618	0.67666	25.1	0.99890436592550524	0.96436	0.91729	0.54139	D	AEFDBI	0.336484	0.43458	N	0.829915139401323	0.87936	9.394158	0.729575094318887	0.84622	8.344186	0.999772297159783	0.42865	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.46	5.46	0.80021	3.041000	0.49496	5.572000	0.48946	0.656000	0.54149	0.999000	0.42656	1.000000	0.68203	0.577000	0.30821	0.0:0.0:1.0:0.0	18.253	0.89947	917	0.20147	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.021652	0.010101	0.023098	0.046784	0.000000	0.051724	0.015244	0.015152	0.05263	5111.83	34	chr9	122789686	.	G	A	5111.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.05;DP=959;ExcessHet=0.119;FS=1.256;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.61;ReadPosRankSum=1.2;SOR=0.622	GT:AD:DP:GQ:PL	0/1:81,82:163:99:2324,0,2058	17	0	2	0
chr9	128968704	128968704	G	A	exonic	NUP188	.	nonsynonymous SNV	NUP188:NM_015354:exon9:c.G784A:p.V262I	.	418	1102	2	0	0	2	0.000906618	.	.	.	3192558	NUP188-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.054	0.00373986707024	0.0003	0.00139776	0.0012	0.0002	8.66e-05	0	0.0017	0.0006	0.0011	0.0058	0.0010608	164	154602	rs140577118	0.0008	0.0008	0.0007	0.0010	0.0056	0.0008	0.0008	0.0052	0.0051	0.0001	0.0002	0	0	0.0014	0	0.0005	0.0007	0.0056	0.0005	0.0005	0.0005	0.0006	0.0054	0.0004	0.0004	0.0038	0.0032	7.217e-05	0	0.0002	0.0003	0	0.0014	0	0.0004	0.0005	0.0054	0.08	0.33585	T	0.0	0.92824	D	0.003	0.11197	B	0.005	0.11217	B	0.000028	0.55875	N	0.157444	0.999862	0.50061	D	0.55	0.14455	N	1.47	0.31987	T	-0.03	0.07444	N	0.042	0.01498	-1.0895	0.05616	T	0.044	0.19029	T	10	0.0056452453	0.00125	T	0.00374	0.08682	T	0.054	0.15330	.	.	0.138757226776	0.13463	0.19197259960747595	0.19115	0.150091436375	0.16931	0.385551452637	0.23041	T	0.019483	0.15513	T	-0.570988	0.00218	T	-0.590072	0.13659	T	0.0183168423654702	0.00550	T	0.831217	0.49813	T	0.026391154	0.01691	0.052065093	0.08504	0.026391154	0.01691	0.052065093	0.08503	-3.425	0.15395	T	.	.	0.092	0.13409	B	.	.	2.096895	0.26679	17.20	0.95466583643371172	0.27008	0.96652	0.70223	D	AEFBI	0.422830	0.48867	N	-0.465721959748396	0.23209	1.244809	-0.280974509217165	0.28725	1.603835	0.999761780373794	0.42728	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.52	2.71	0.31092	5.250000	0.65252	3.687000	0.39485	-0.203000	0.08628	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.2162:0.0:0.7838:0.0	10.080	0.41558	895	0.25842	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	912.33	34	chr9	128968704	.	G	A	912.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.092;DP=697;ExcessHet=0;FS=8.92;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.22;ReadPosRankSum=-0.379;SOR=0.168	GT:AD:DP:GQ:PL	0/1:33,36:69:99:926,0,939	18	0	1	0
chr9	130418993	130418993	C	T	exonic	HMCN2	.	nonsynonymous SNV	HMCN2:NM_001291815:exon86:c.C13183T:p.H4395Y	.	423	1094	5	0	0	5	0.00227998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	.	.	0.000399361	0.0023	0	0.0049	0	0	0.0028	0	0.0032	0.0002523	39	154602	rs568441799	0.0005	0.0005	0.0004	0.0005	0.0042	0.0004	0.0004	0.0029	0.0024	0.0002	0.0009	0.0069	0	0	0.0042	0.0003	0.0009	0.0012	0.0005	0.0005	0.0005	0.0004	0.0007	0.0004	0.0003	0.0004	0.0003	7.212e-05	0	0.0007	0.0072	0	0	0.0068	0.0004	0.0005	0.0004	.	.	.	0.068	0.44106	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	0.24634	-0.3894	0.72361	T	0.273	0.64463	T	8	0.009629965	0.00217	T	.	.	.	.	.	.	.	0.104622674875	0.10061	0.1086028946769526	0.10789	.	.	.	.	.	0.011172	0.10005	T	-0.440435	0.01286	T	-0.445964	0.28143	T	0.0380966331831801	0.03349	T	0.585041	0.21304	T	0.053241033	0.10045	0.15490748	0.36335	0.053241033	0.10044	0.15490748	0.36334	-5.75	0.44136	T	.	.	0.119	0.24464	B	.	.	2.054924	0.26127	17.01	0.99061402871715132	0.51505	0.84851	0.43943	D	AEFGBI	0.235267	0.35790	N	-0.00857869006232942	0.41465	2.480766	-0.0322191209411389	0.38269	2.252225	0.977877124576479	0.29864	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.542086	0.14980	0	.	.	5.31	4.41	0.52588	0.555000	0.23129	4.726000	0.44529	-0.182000	0.10109	0.074000	0.22182	1.000000	0.68203	0.589000	0.31115	0.0:0.9061:0.0:0.0939	9.953	0.40819	366	0.84579	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	.	.	.	.	.	.	.	.	0.02632	1394.33	40	chr9	130418993	.	C	T	1394.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.202;DP=749;ExcessHet=0;FS=11.971;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.43;ReadPosRankSum=0.193;SOR=1.362	GT:AD:DP:GQ:PL	0/1:31,49:80:99:1408,0,793	18	0	1	0
chr9	133414905	133414905	G	A	exonic	REXO4	.	nonsynonymous SNV	REXO4:NM_001279351:exon2:c.C53T:p.S18L,REXO4:NM_020385:exon2:c.C332T:p.S111L	.	421	1091	10	0	0	10	0.00456204	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.00318519543198	0.0057	0.00199681	0.0057	0.0010	0.0078	0.0002	0.0047	0.0067	0.0055	0.0064	0.0054851	848	154602	rs141547732	0.0061	0.0061	0.0062	0.0060	0.0070	0.0060	0.0060	0.0064	0.0064	0.0011	0.0070	0.0056	0.0005	0.0034	0.0066	0.0066	0.0059	0.0062	0.0050	0.0050	0.0052	0.0047	0.0073	0.0047	0.0046	0.0066	0.0064	0.0013	0.0263	0.0073	0.0055	0.0008	0.0020	0	0.0071	0.0081	0.0054	0.197	0.20607	T	0.393	0.16086	T	0.002	0.09854	B	0.001	0.04355	B	0.000002	0.00162	N	4.198630	1	0.08975	N	1.645	0.42016	L	2.17	0.22881	T	-1.22	0.30964	N	0.15	0.15328	-1.0361	0.18513	T	0.039	0.16935	T	10	0.0038892627	0.00074	T	0.003185	0.06966	T	0.069	0.20116	.	.	0.177238962908	0.17366	0.10963013122170862	0.10892	0.189630278028	0.21286	0.279996752739	0.07492	T	0.007624	0.07015	T	-0.638587	0.00085	T	-0.679675	0.07003	T	0.00812632363327748	0.00097	T	0.60194	0.24617	T	0.09133971	0.21400	0.0930797	0.21969	0.09133971	0.21399	0.0930797	0.21968	-3.388	0.14896	T	.	.	0.073	0.07318	B	.;.	.;.	1.396697	0.18099	13.55	0.5552218337293372	0.05360	0.21902	0.21564	N	AEFBI	0.061670	0.11805	N	-0.837309502010327	0.12365	0.6022439	-0.844847472604116	0.13411	0.6955832	0.999916208656021	0.45857	0.706548	0.73137	0	0.672317	0.65289	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.63	2.76	0.31527	1.490000	0.35181	2.835000	0.35045	0.676000	0.76740	0.011000	0.18532	0.256000	0.23951	0.021000	0.11733	0.1811:0.0:0.8189:0.0	8.752	0.33783	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	0.003021	0.000000	0.001359	0.002924	0.050000	0.017241	0.006098	0.003788	0.02632	1096.33	34	chr9	133414905	.	G	A	1096.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.961;DP=707;ExcessHet=0;FS=0.822;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.21;ReadPosRankSum=0.452;SOR=0.827	GT:AD:DP:GQ:PL	0/1:39,44:83:99:1110,0,1062	18	0	1	0
chr9	133524837	133524837	G	A	exonic	MYMK	.	nonsynonymous SNV	MYMK:NM_001080483:exon1:c.C8T:p.T3M	.	415	1106	1	0	0	1	0.000451875	.	.	.	2410522	MYMK-related_disorder|Carey-Fineman-Ziter_syndrome_1	.|MONDO:MONDO:0800437,MedGen:C5676876,OMIM:254940	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.164	0.0775461392727	0.0005	0.000199681	0.0004	0	0	0.0001	0	0.0006	0	0.0002	0.0003169	49	154602	rs140742530	0.0003	0.0003	0.0003	0.0003	0.0002	0.0003	0.0002	8.04e-05	7.359e-05	5.993e-05	2.252e-05	0.0097	7.577e-05	0	0.0002	9.371e-05	0.0004	0.0001	0.0003	0.0003	0.0003	0.0003	0.0002	0.0002	0.0002	4.766e-05	3.339e-05	4.811e-05	0	0	0.0098	0.0002	0	0	0.0001	0.0005	0.0002	0.003	0.68238	D	0.007	0.69154	D	0.983	0.60381	D	0.572	0.49931	P	0.000204	0.47681	D	0.140029	0.990622	0.41199	D	.	.	.	0.93	0.44065	T	-0.13	0.08971	N	0.348	0.38950	-0.8069	0.54736	T	0.141	0.46091	T	10	0.009785444	0.00220	T	0.077546	0.72797	D	0.164	0.42212	.	.	0.486422812247	0.48275	0.5903832376985484	0.58968	0.335183319762	0.35526	0.532271564007	0.43354	T	0.02079	0.16305	T	-0.354255	0.04465	T	-0.446315	0.28105	T	0.0675943529257619	0.08309	T	0.865313	0.56401	D	0.112453595	0.26566	0.18925296	0.42261	0.112453595	0.26566	0.18925296	0.42260	-4.071	0.24861	T	.	.	0.128	0.27222	B	.	.	4.032003	0.59633	24.1	0.99524951648821036	0.69469	0.96056	0.67333	D	AEFDBCI	0.870826	0.79196	D	0.418914619836409	0.62463	4.462557	0.390839021829125	0.60999	4.294108	0.999999999999461	0.74766	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.23	4.23	0.49319	7.497000	0.80382	8.356000	0.77021	0.604000	0.46097	1.000000	0.71638	1.000000	0.68203	0.942000	0.48361	0.0:0.0:1.0:0.0	16.617	0.84772	856	0.34373	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.003049	0.000000	0.02632	696.33	33	chr9	133524837	.	G	A	696.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.309;DP=695;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.39;ReadPosRankSum=1.68;SOR=0.538	GT:AD:DP:GQ:PL	0/1:26,26:52:99:710,0,721	18	0	1	0
chr9	136011887	136011887	T	C	exonic	NACC2	.	nonsynonymous SNV	NACC2:NM_144653:exon6:c.A1393G:p.M465V	.	412	1071	39	0	0	39	0.0178817	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	.	0.0079	0.00858626	0.0168	0.0012	0.0127	0	0.0199	0.0166	0.0072	0.0266	0.0070762	1094	154602	rs61742050	0.0091	0.0090	0.0086	0.0096	0.0208	0.0090	0.0089	0.0199	0.0196	0.0007	0.0049	0.0204	0.0001	0.0039	0.0087	0.0089	0.0091	0.0208	0.0071	0.0071	0.0068	0.0076	0.0199	0.0068	0.0066	0.0167	0.0155	0.0013	0.0077	0.0049	0.0204	0.0002	0.0064	0.0102	0.0101	0.0109	0.0199	0.229	0.18371	T	1.0	0.01155	T	0.01	0.15535	B	0.004	0.10090	B	0.000000	0.84330	D	0.048243	0.958512	0.38079	D	0.895	0.22405	L	0.08	0.61559	T	0.27	0.04306	N	0.19	0.20793	-1.0459	0.15563	T	0.080	0.31824	T	10	0.0054822266	0.00121	T	.	.	.	0.058	0.16647	.	.	0.513503867364	0.50992	0.23018189085281895	0.22933	0.687941237011	0.60407	0.775818347931	0.78298	T	0.161096	0.50521	T	-0.491651	0.00636	T	-0.462743	0.26300	T	0.00460462130183993	0.00049	T	0.720928	0.33404	T	0.18694432	0.40126	0.20599216	0.44794	0.18694432	0.40125	0.20599216	0.44793	-1.213	0.01269	T	.	.	0.086	0.10449	B	.;.	.;.	1.990718	0.25293	16.71	0.95937216529691349	0.28233	0.89977	0.50804	D	AEFBHCI	0.204167	0.33063	N	-0.361306863027207	0.26859	1.46913	-0.176787345977006	0.32391	1.842405	0.99999991120564	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.26897	0.05253	2	0.591603	0.36755	0	.	.	5.23	4.09	0.47038	2.762000	0.47278	3.343000	0.37723	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0797:0.0:0.9203	10.044	0.41345	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	0.009635	0.005208	0.005435	0.017544	0.000000	0.026316	0.021605	0.007576	0.02632	2034.33	39	chr9	136011887	.	T	C	2034.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.69;DP=864;ExcessHet=0;FS=6.195;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.93;ReadPosRankSum=1.04;SOR=0.352	GT:AD:DP:GQ:PL	0/1:74,72:146:99:2048,0,1978	18	0	1	0
chr10	825249	825249	T	C	exonic	LARP4B	.	nonsynonymous SNV	LARP4B:NM_001351277:exon13:c.A1300G:p.S434G,LARP4B:NM_015155:exon13:c.A1300G:p.S434G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00390173934956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.259	0.16628	T	0.094	0.39645	T	0.034	0.20480	B	0.012	0.16012	B	0.000000	0.84330	D	0.124272	0.999909	0.50806	D	1.83	0.48079	L	1.42	0.33189	T	-1.32	0.32991	N	0.378	0.42149	-1.0760	0.08144	T	0.048	0.20553	T	10	0.09752631	0.17572	T	0.003902	0.09180	T	0.023	0.04649	0.235	0.16457	0.189391138174	0.18552	0.5409899109821052	0.54023	0.296725836107	0.32059	0.615102767944	0.55037	T	0.072244	0.34406	T	-0.147588	0.28690	T	-0.449777	0.27720	T	0.606496572494507	0.36659	D	0.835216	0.50504	T	0.1529754	0.34699	0.12790082	0.30779	0.1529754	0.34699	0.12790082	0.30779	-5.445	0.41350	T	.	.	0.098	0.19679	B	.;.	.;.	3.996231	0.58848	24.0	0.98635954636874601	0.43987	0.96367	0.68792	D	AEFDBI	0.396291	0.47282	N	-0.0822847856859552	0.38168	2.231465	0.131294021325016	0.46157	2.866445	0.999198281609489	0.38711	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.57	5.57	0.84021	5.068000	0.64193	7.942000	0.75525	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0743:0.0:0.9257	10.134	0.41870	884	0.28482	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	3198.86	113	chr10	825249	.	T	C	3198.86	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-3.463;DP=2358;ExcessHet=31.086;FS=172.694;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=60;MQRankSum=0;QD=1.44;ReadPosRankSum=1.83;SOR=12.863	GT:AD:DP:GQ:PL	0/1:87,29:116:99:113,0,1676	2	0	17	0
chr10	5097545	5097545	C	G	exonic	AKR1C3	.	nonsynonymous SNV	AKR1C3:NM_001253908:exon3:c.C364G:p.L122V,AKR1C3:NM_001253909:exon3:c.C364G:p.L122V,AKR1C3:NM_003739:exon3:c.C364G:p.L122V	.	15	1506	1	0	0	1	0.000331895	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.00295155213949	.	0.000998403	0.0006	0	0	0	0	0	0	0.0044	0.0005175	80	154602	rs531233762	0.0002	0.0002	0.0001	0.0003	0.0035	0.0002	0.0002	0.0032	0.0031	2.989e-05	2.236e-05	0	2.52e-05	0	0	2.699e-06	0.0003	0.0035	0.0001	0.0001	7.71e-05	0.0001	0.0031	6.508e-05	5.32e-05	0.0019	0.0015	0	0	0	0	0	0	0	1.47e-05	0	0.0031	0.029	0.45756	D	0.162	0.43159	T	0.005	0.12996	B	0.058	0.26451	B	0.290074	0.14785	N	0.575509	0.999909	0.19694	N	1.435	0.35949	L	1.73	0.26445	T	-2.84	0.59873	D	0.095	0.07535	-1.0312	0.20066	T	0.071	0.29001	T	9	0.009286612	0.00210	T	0.002952	0.06280	T	0.014	0.01968	0.566	0.68768	0.171388866994	0.16791	0.16816016748662618	0.16736	0.0119562494759	0.01133	0.213865950704	0.00987	T	0.012944	0.35052	T	-0.587419	0.00174	T	-0.616708	0.11445	T	0.0179909393808742	0.00524	T	0.641836	0.28733	T	0.29701713	0.52635	0.15064146	0.35518	0.29701713	0.52635	0.15064146	0.35518	-5.912	0.45537	T	.	.	0.156	0.36594	B	.;.;.;.	.;.;.;.	-0.518671	0.01808	0.141	0.86491336983057399	0.16572	0.02694	0.07335	N	AEFBI	0.147679	0.27140	N	-1.22754093984001	0.04604	0.2081488	-1.36342369449095	0.03650	0.1707083	0.999790288506094	0.43153	0.706298	0.61202	0	0.573888	0.26702	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	1.62	-2.51	0.05996	-1.247000	0.03004	-20.000000	0.00162	-0.185000	0.09859	0.000000	0.06391	0.000000	0.08366	0.018000	0.11154	0.5889:0.2663:0.0:0.1449	3.961	0.08906	982	0.03397	NADP-dependent oxidoreductase domain|NADP-dependent oxidoreductase domain;NADP-dependent oxidoreductase domain|NADP-dependent oxidoreductase domain;NADP-dependent oxidoreductase domain|NADP-dependent oxidoreductase domain;NADP-dependent oxidoreductase domain|NADP-dependent oxidoreductase 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	.	.	.	.	.	.	.	.	0.05263	4295.81	41	chr10	5097545	.	C	G	4295.81	.	AC=2;AF=0.053;AN=38;DP=1096;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.59;SOR=0.953	GT:AD:DP:GQ:PL	1/1:0,136:136:99:4323,408,0	18	1	0	0
chr10	15065724	15065724	G	C	exonic	OLAH	.	nonsynonymous SNV	OLAH:NM_001039702:exon6:c.G543C:p.R181S,OLAH:NM_018324:exon7:c.G702C:p.R234S	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.0109949250658	.	.	3.3e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs771907117	2.467e-05	2.463e-05	2.182e-05	2.756e-05	0.0009	1.806e-05	1.603e-05	0.0003	0.0002	0	0	0	0	0	0.0009	1.26e-05	3.319e-05	0.0002	1.972e-05	1.97e-05	3.854e-05	0	0.0002	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0.0002	0.009	0.57480	D	0.005	0.72224	D	0.968	0.56581	D	0.713	0.54588	P	0.407673	0.13039	N	0.749123	0.998684	0.21986	N	2.735	0.79925	M	.	.	.	-2.72	0.62630	D	0.203	0.22614	-0.7942	0.55485	T	0.257	0.62744	T	9	0.75827605	0.76148	D	0.010995	0.28145	T	0.115	0.32236	0.846	0.94965	0.0138822411134	0.00435	0.41678842785821885	0.41594	0.00887738924054	0.00804	0.289655596018	0.08872	T	0.11781	0.43816	T	-0.251723	0.13887	T	-0.362691	0.37740	T	0.532257735729218	0.33817	D	0.438156	0.12052	T	0.3157943	0.54282	0.136041	0.32555	0.3157943	0.54282	0.136041	0.32554	-6.784	0.57031	T	.	.	0.599	0.68850	P	.;.;.	.;.;.	1.799679	0.22873	15.80	0.96178917021614085	0.28954	0.22688	0.21830	N	AEFBI	0.091555	0.18544	N	-0.185100998700332	0.33754	1.918633	-0.341957173898202	0.26758	1.480114	0.0010123672524652	0.08126	0.549168	0.22868	0	0.588066	0.40923	0	0.573888	0.23631	0	0.616125	0.45549	0	.	.	5.13	2.23	0.27189	0.890000	0.27931	1.113000	0.24175	0.650000	0.52971	0.669000	0.28339	0.519000	0.25298	0.004000	0.06068	0.341:0.0:0.659:0.0	7.647	0.27492	889	0.27310	.;Thioesterase;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	950.33	34	chr10	15065724	.	G	C	950.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.38;DP=710;ExcessHet=0;FS=4.563;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.18;ReadPosRankSum=-0.269;SOR=1.267	GT:AD:DP:GQ:PL	0/1:45,40:85:99:964,0,1289	18	0	1	0
chr10	15104021	15104021	T	C	exonic	RPP38	.	nonsynonymous SNV	RPP38:NM_001265601:exon2:c.T707C:p.F236S,RPP38:NM_006414:exon2:c.T707C:p.F236S,RPP38:NM_001097590:exon3:c.T707C:p.F236S,RPP38:NM_183005:exon3:c.T707C:p.F236S	.	437	1037	48	0	0	48	0.0226202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	.	0.0005	0.00658946	0.0049	0.0004	0.0019	0.0154	0	0.0019	0.0055	0.0183	0.004379	677	154602	rs145152071	0.0026	0.0026	0.0020	0.0033	0.0302	0.0026	0.0025	0.0265	0.0251	0.0007	0.0019	0.0026	0.0107	3.744e-05	0.0302	0.0010	0.0038	0.0195	0.0023	0.0023	0.0018	0.0028	0.0205	0.0021	0.0020	0.0173	0.0160	0.0005	0	0.0018	0.0035	0.0137	0	0.0204	0.0016	0.0038	0.0205	0.406	0.10278	T	0.548	0.09489	T	0.003	0.11197	B	0.002	0.06944	B	0.972269	0.07787	N	1.014050	1	0.08975	N	2.01	0.54746	M	2.98	0.09356	T	-0.14	0.09135	N	0.084	0.06059	-0.9139	0.46364	T	0.015	0.06042	T	10	0.003263712	0.00056	T	.	.	.	0.038	0.09825	.	.	0.219573609325	0.21563	0.2349481285067767	0.23409	0.154710486626	0.17472	0.283195614815	0.07942	T	0.005185	0.04625	T	-0.619601	0.00111	T	-0.647195	0.09152	T	0.00119366092255091	0.00012	T	0.410359	0.10588	T	0.1212417	0.28514	0.037867542	0.03531	0.1212417	0.28514	0.037867542	0.03530	-1.537	0.01841	T	.	.	0.092	0.13362	B	.;.;.;.	.;.;.;.	0.245468	0.06252	2.707	0.55435688288076312	0.05342	0.05553	0.11449	N	AEFBCI	0.079022	0.15954	N	-1.19906891468011	0.05014	0.2276249	-1.23858193631294	0.05302	0.2523114	0.968855460798282	0.29083	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.88	-3.73	0.04112	-0.624000	0.05637	-0.067000	0.12346	-0.888000	0.02403	0.012000	0.18695	0.349000	0.24462	0.504000	0.29107	0.2082:0.3853:0.2135:0.193	2.386	0.04099	867	0.32089	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.022659	0.010101	0.017663	0.043860	0.000000	0.025862	0.009146	0.018939	0.02632	1331.33	33	chr10	15104021	.	T	C	1331.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.72;DP=1269;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.59;ReadPosRankSum=-0.363;SOR=0.703	GT:AD:DP:GQ:PL	0/1:50,48:98:99:1345,0,1486	18	0	1	0
chr10	48450610	48450610	C	G	exonic	ARHGAP22	.	nonsynonymous SNV	ARHGAP22:NM_001256026:exon7:c.G1249C:p.V417L,ARHGAP22:NM_001347735:exon8:c.G1390C:p.V464L,ARHGAP22:NM_001256024:exon9:c.G1567C:p.V523L,ARHGAP22:NM_001256025:exon9:c.G1537C:p.V513L,ARHGAP22:NM_021226:exon9:c.G1519C:p.V507L,ARHGAP22:NM_001347738:exon10:c.G1537C:p.V513L	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.0152799503802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.433e-06	1.368e-06	1.414e-06	1.452e-06	0.0002	2.4e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	1.726e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.275	0.31235	T	0.883	0.15456	T	0.004	0.29776	B	0.005	0.27432	B	0.039242	0.24192	N	0.441828	0.966047	0.31491	N	2.175	0.60977	M	2.7	0.29085	T	-0.94	0.30762	N	0.059	0.04668	-1.0411	0.16981	T	0.052	0.22114	T	10	0.06216362	0.07906	T	0.01528	0.35920	T	0.012	0.01476	0.146	0.04941	0.144782658237	0.14088	0.17977883057642272	0.17896	0.172049026546	0.19376	0.37939375639	0.22171	T	0.050896	0.28726	T	-0.259376	0.12973	T	-0.610352	0.11955	T	0.128267889366925	0.15221	T	0.885311	0.61533	D	0.06730019	0.14560	0.053071994	0.08868	0.06730019	0.14560	0.053071994	0.08868	-2.622	0.07363	T	.	.	0.101	0.36012	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.115995	0.15017	11.52	0.84648781748321977	0.15415	0.39116	0.26140	N	AEFDBCI	0.282873	0.39610	N	-0.629744595884624	0.18054	0.934288	-0.600828906608745	0.19472	1.044852	0.999794013208528	0.43153	0.706548	0.73137	0	0.588066	0.40923	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.03	3.13	0.35090	1.614000	0.36522	-0.203000	0.10926	0.545000	0.25583	0.079000	0.22314	0.000000	0.08366	0.008000	0.08271	0.1808:0.6217:0.0:0.1976	4.324	0.10471	934	0.15400	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001657	0.000000	0.001479	0.000000	0.000000	0.000000	0.006803	0.000000	0.02632	1251.33	49	chr10	48450610	.	C	G	1251.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.92;DP=1133;ExcessHet=0;FS=4.878;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.92;ReadPosRankSum=1.11;SOR=1.22	GT:AD:DP:GQ:PL	0/1:55,50:105:99:1265,0,1273	18	0	1	0
chr10	49752200	49752200	G	A	exonic	OGDHL	.	nonsynonymous SNV	OGDHL:NM_001143996:exon4:c.C356T:p.P119L,OGDHL:NM_001347820:exon4:c.C356T:p.P119L,OGDHL:NM_001347819:exon5:c.C527T:p.P176L,OGDHL:NM_001347823:exon5:c.C527T:p.P176L,OGDHL:NM_001347824:exon5:c.C527T:p.P176L,OGDHL:NM_018245:exon5:c.C527T:p.P176L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.503	0.0167126108196	.	.	2.48e-05	0	0	0	0	1.503e-05	0	0.0001	2.59e-05	4	154602	rs771196010	1.573e-05	1.642e-05	1.225e-05	1.925e-05	0.0003	1.048e-05	8.75e-06	6.092e-05	2.521e-05	2.987e-05	0	0	0	1.874e-05	0.0003	1.259e-05	3.311e-05	3.478e-05	6.573e-06	6.567e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.039	0.47320	D	0.069	0.44501	T	0.999	0.90584	D	0.985	0.78396	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.155	0.88459	M	2.55	0.13795	T	-8.88	0.98138	D	0.512	0.58713	-1.1177	0.02482	T	0.096	0.36212	T	10	0.68736225	0.71643	D	0.016713	0.38094	T	0.503	0.78538	0.463	0.53242	0.569914523039	0.56656	0.919462308306856	0.91922	0.392667314243	0.40446	0.737635970116	0.72624	T	0.35958	0.72596	T	0.0806963	0.62123	D	0.0596661	0.74223	D	0.919783234596252	0.57866	D	0.99596	0.98610	D	0.4578229	0.64535	0.41123602	0.65361	0.4578229	0.64536	0.41123602	0.65361	-12.216	0.85887	D	0.4590027669484028	0.54149	0.960	0.88082	P	.;.	.;.	4.678972	0.74854	26.2	0.9988809248300764	0.96281	0.99203	0.92752	D	AEFDBI	0.970653	0.99287	D	0.799904545893348	0.86098	8.778163	0.783324344969903	0.88609	9.647411	0.999999999421547	0.74766	0.706548	0.73137	0	0.670034	0.63936	0	0.724815	0.87919	0	0.586402	0.36253	0	.	.	5.44	5.44	0.79348	7.736000	0.83883	11.821000	0.97240	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.656000	0.32857	0.0:0.0:1.0:0.0	19.257	0.93937	916	0.20744	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	874.33	46	chr10	49752200	.	G	A	874.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.013;DP=779;ExcessHet=0;FS=2.037;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.86;ReadPosRankSum=1.68;SOR=1.071	GT:AD:DP:GQ:PL	0/1:33,35:68:99:888,0,844	18	0	1	0
chr10	67885049	67885049	C	G	exonic	SIRT1	.	nonsynonymous SNV	SIRT1:NM_012238:exon1:c.C328G:p.P110A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.0139105064527	.	.	.	.	.	.	.	.	.	.	.	.	.	rs868722110	3.925e-06	4.104e-06	4.622e-06	3.2e-06	0.0002	1.15e-06	8.4e-07	5.1e-06	1.91e-06	0	0	0	0	0	0.0002	0	3.891e-05	3.074e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.483	0.08164	T	0.704	0.05642	T	0.002	0.09854	B	0.007	0.12992	B	0.091458	0.02458	N	2.260420	0.985652	0.24690	N	0	0.06538	N	2.58	0.13434	T	0.39	0.03521	N	0.142	0.14196	-0.9838	0.34116	T	0.016	0.06664	T	10	0.06582478	0.08937	T	0.013911	0.33663	T	0.109	0.30843	0.054	0.00134	0.15499578495	0.15088	0.05480559113914355	0.05421	0.24310875062	0.26815	0.719537854195	0.69979	T	0.173788	0.52278	T	-0.250008	0.14096	T	-0.596895	0.13072	T	0.098795970422255	0.12224	T	0.444656	0.12411	T	0.058592793	0.11805	0.09749021	0.23207	0.058592793	0.11804	0.09749021	0.23206	-3.277	0.13442	T	.	.	0.058	0.00705	B	.	.	2.020702	0.25676	16.85	0.85306478783295303	0.15811	0.70283	0.34527	D	ALL	0.089126	0.18065	N	-0.683952594868696	0.16479	0.8399436	-0.49309305605193	0.22343	1.213112	0.999999999999953	0.74766	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.249971	0.05119	0	.	.	3.62	3.62	0.40616	2.175000	0.42119	6.127000	0.53864	0.501000	0.22741	0.998000	0.41325	1.000000	0.68203	0.788000	0.37229	0.0:1.0:0.0:0.0	11.095	0.47359	926	0.17793	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1615.33	39	chr10	67885049	.	C	G	1615.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.126;DP=790;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.62;ReadPosRankSum=0.568;SOR=0.695	GT:AD:DP:GQ:PL	0/1:65,74:139:99:1629,0,1445	18	0	1	0
chr10	70749921	70749921	C	T	exonic	ADAMTS14	.	nonsynonymous SNV	ADAMTS14:NM_080722:exon16:c.C2363T:p.A788V,ADAMTS14:NM_139155:exon16:c.C2372T:p.A791V	.	430	1078	14	0	0	14	0.00645161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	.	.	0.013778	0.0077	0.0003	0.0014	0.0003	0	9.026e-05	0.0033	0.0548	0.0067334	1041	154602	rs375472897	0.0035	0.0035	0.0020	0.0050	0.0548	0.0034	0.0034	0.0535	0.0529	0.0003	0.0006	0	7.557e-05	0	0.0036	7.734e-05	0.0041	0.0548	0.0018	0.0018	0.0008	0.0028	0.0539	0.0016	0.0015	0.0485	0.0464	4.814e-05	0	0.0002	0	0.0004	9.422e-05	0.0034	4.411e-05	0.0005	0.0539	0.297	0.14645	T	0.292	0.20877	T	0.004	0.12183	B	0.004	0.10090	B	0.161366	0.17653	N	0.576977	1	0.08975	N	1.1	0.28011	L	0.67	0.52187	T	-0.86	0.23372	N	0.2	0.22098	-1.0447	0.15913	T	0.032	0.13592	T	10	0.0022140145	0.00032	T	.	.	.	0.141	0.37795	.	.	0.269111216191	0.26524	0.3587299531264283	0.35786	0.171333639152	0.19303	0.239934742451	0.02784	T	0.012948	0.11287	T	-0.661024	0.00062	T	-0.681312	0.06903	T	0.00471642684655219	0.00050	T	0.0751925	0.00551	T	0.029759804	0.02524	0.028087288	0.01013	0.029759804	0.02524	0.028087288	0.01013	-5.205	0.38992	T	.	.	0.073	0.04847	B	.;.	.;.	0.232072	0.06131	2.578	0.95440167658866371	0.26945	0.23449	0.22079	N	AEFDBCI	0.170846	0.29777	N	-1.30405548479824	0.03628	0.1624193	-1.30949037245449	0.04307	0.202852	0.953472086851655	0.28075	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	4.82	-4.13	0.03639	0.300000	0.18911	-7.149000	0.01220	-0.804000	0.03133	0.000000	0.06391	0.000000	0.08366	0.125000	0.19370	0.2227:0.3855:0.1102:0.2816	1.101	0.01579	352	0.85375	.;ADAM-TS Spacer 1	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007092	0.000000	0.000000	0.008824	0.000000	0.008621	0.000000	0.023077	0.02632	728.33	41	chr10	70749921	.	C	T	728.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1;DP=701;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.12;ReadPosRankSum=0.819;SOR=0.643	GT:AD:DP:GQ:PL	0/1:41,31:72:99:742,0,949	18	0	1	0
chr10	79513028	79513028	T	G	exonic	EIF5AL1	.	nonsynonymous SNV	EIF5AL1:NM_001099692:exon1:c.T379G:p.Y127D	.	413	1107	2	0	0	2	0.000902527	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.00519820807837	.	.	5.778e-05	0	0	0	0	7.507e-05	0	0.0001	3.84e-05	1	26028	rs754711374	3.973e-05	5.748e-05	2.998e-05	4.957e-05	0.0003	3.117e-05	2.85e-05	0.0002	0.0002	0	0	0	2.519e-05	0	0	2.521e-05	0	0.0003	1.321e-05	1.972e-05	1.291e-05	1.353e-05	2.948e-05	2.2e-06	8.2e-07	4.89e-06	1.83e-06	0	0	0	0	0	0	0	2.948e-05	0	0	0.001	0.78490	D	0.007	0.69154	D	0.766	0.43754	P	0.344	0.42549	B	.	.	.	.	0.989199	0.24324	N	2.645	0.77386	M	0.94	0.43672	T	-5.44	0.85397	D	0.308	0.34767	-0.9682	0.37571	T	0.104	0.38292	T	9	0.27724084	0.45290	T	0.005198	0.13248	T	0.070	0.20419	.	.	0.399449838166	0.39556	0.732353087230442	0.73180	.	.	0.681075930595	0.64423	T	0.539866	0.84226	D	-0.372351	0.03477	T	-0.462114	0.26369	T	0.337214082479477	0.26512	T	0.780822	0.41560	T	0.547639	0.69824	0.53218424	0.72968	0.547639	0.69825	0.53218424	0.72969	-12.657	0.87901	D	.	.	0.415	0.60389	A	.	.	3.306354	0.45409	22.1	0.94642354767512016	0.25241	0.24523	0.22420	N	AEFBI	0.390854	0.46952	N	-0.283953123540264	0.29767	1.65374	-0.448587178073987	0.23588	1.28719	3.2499961892656E-4	0.06540	0.706298	0.61202	0	0.693144	0.66847	0	0.709663	0.75317	0	0.542086	0.14980	0	.	.	0.843	0.843	0.18076	0.290000	0.18731	2.994000	0.35893	0.096000	0.17612	0.984000	0.35821	1.000000	0.68203	0.330000	0.25202	0.0:0.3233:0.0:0.6767	2.937	0.05460	900	0.24599	Translation elongation factor, IF5A C-terminal|Translation elongation factor, IF5A 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	0.001596	0.000000	0.002725	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	872.33	113	chr10	79513028	.	T	G	872.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.272;DP=1544;ExcessHet=0;FS=5.799;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=45.12;MQRankSum=-6.715;QD=4.41;ReadPosRankSum=1.67;SOR=0.53	GT:AD:DP:GQ:PL	0/1:144,54:198:99:886,0,4029	18	0	1	0
chr10	79612410	79612410	C	G	exonic	SFTPA1	.	nonsynonymous SNV	SFTPA1:NM_001164647:exon3:c.C271G:p.P91A,SFTPA1:NM_001093770:exon4:c.C316G:p.P106A,SFTPA1:NM_001164644:exon4:c.C271G:p.P91A,SFTPA1:NM_001164645:exon4:c.C169G:p.P57A,SFTPA1:NM_001164646:exon4:c.C124G:p.P42A,SFTPA1:NM_005411:exon4:c.C271G:p.P91A	.	0	1495	25	2	0	29	0.00960583	.	.	.	175302	not_specified|not_provided|Interstitial_lung_disease_1	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0030608,MedGen:C5562021,OMIM:619611	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.351	.	0.0119	0.00539137	0.0072	0.0138	0.0037	0.0002	0.0033	0.0079	0.0077	0.0079	0.0072379	1119	154602	rs1136452	0.0092	0.0092	0.0092	0.0092	0.0125	0.0091	0.0091	0.0115	0.0111	0.0125	0.0032	0.0044	7.56e-05	0.0037	0.0057	0.0103	0.0070	0.0085	0.0087	0.0087	0.0093	0.0080	0.0119	0.0083	0.0081	0.0110	0.0107	0.0119	0.0011	0.0046	0.0037	0	0.0022	0.0068	0.0100	0.0067	0.0056	0.077	0.39097	T	0.129	0.43721	T	0.016	0.17332	B	0.008	0.13708	B	0.015463	0.28237	N	0.260251	0.816777	0.28933	N	1.625	0.41611	L	-3.33	0.93928	D	-2.79	0.72240	D	0.356	0.40765	0.040	0.83040	D	0.612	0.86288	D	10	0.01736933	0.00370	T	.	.	.	0.351	0.67234	.	.	0.9178613946	0.91703	0.17685690625503245	0.17604	0.119395376908	0.13444	0.497153073549	0.38431	T	0.147696	0.48590	T	-0.247057	0.14462	T	-0.11598	0.62131	T	0.0156955311017873	0.00362	T	0.482252	0.15376	T	0.06835235	0.14883	0.09595351	0.22780	0.06835235	0.14883	0.09595351	0.22779	-4.683	0.34168	T	0.3364791293396909	0.43437	0.070	0.04396	B	.;.;.;.;.	.;.;.;.;.	1.721284	0.21914	15.40	0.89397573938290731	0.18762	0.56221	0.30062	D	AEFDBHI	0.055048	0.10061	N	-0.256447711557157	0.30846	1.723901	-0.262279279184799	0.29352	1.643735	0.00179189413031845	0.08891	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.73	2.73	0.31266	0.759000	0.26127	4.617000	0.44060	0.519000	0.23678	0.009000	0.18154	0.989000	0.31174	0.079000	0.17189	0.0:1.0:0.0:0.0	9.116	0.35919	702	0.57624	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004532	0.010101	0.002717	0.002924	0.000000	0.000000	0.006098	0.000000	0.02632	1427.33	49	chr10	79612410	.	C	G	1427.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.084;DP=917;ExcessHet=0;FS=0.735;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.22;ReadPosRankSum=0.357;SOR=0.568	GT:AD:DP:GQ:PL	0/1:55,53:108:99:1441,0,1530	18	0	1	0
chr10	84513830	84513830	G	T	exonic	CCSER2	.	nonsynonymous SNV	CCSER2:NM_001284242:exon7:c.G988T:p.V330F,CCSER2:NM_001284240:exon10:c.G2707T:p.V903F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.00658158728732	.	0.00119808	0.0017	0	0	0	0	0	0	0.0034	0.0002329	36	154602	rs565373126	0.0003	0.0002	0.0001	0.0004	0.0043	0.0002	0.0002	0.0039	0.0038	3.165e-05	0	0	2.798e-05	0	0	0	0.0002	0.0043	0.0002	0.0002	8.993e-05	0.0003	0.0054	0.0001	0.0001	0.0038	0.0032	0	0	0	0	0.0002	0	0	0	0	0.0054	0.055	0.38407	T	0.058	0.46182	T	0.773	0.44016	P	0.428	0.45338	B	.	.	.	.	1	0.24600	N	.	.	.	1.93	0.22881	T	-1.13	0.29114	N	0.283	0.32037	-1.0789	0.07563	T	0.077	0.30737	T	8	0.0066339076	0.00150	T	0.006582	0.17358	T	0.077	0.22490	0.09	0.01023	0.530160902827	0.52664	0.20552117678006387	0.20469	.	.	.	.	.	.	.	.	-0.499986	0.00572	T	-0.492445	0.23134	T	0.0522106903771824	0.05884	T	0.738626	0.35686	T	.	.	.	.	.	.	.	.	-3.445	0.15670	T	.	.	0.120	0.24700	B	.;.	.;.	2.454628	0.31615	18.79	0.98083778074135952	0.38133	0.76242	0.37378	D	AEFDGBCI	0.115547	0.22715	N	-0.0986822497817135	0.37449	2.178968	-0.0818022311187711	0.36142	2.099625	0.47213558986936	0.20716	0.722319	0.85440	0	0.653731	0.59785	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	6.04	4.21	0.48984	1.553000	0.35862	1.252000	0.25176	-0.106000	0.15538	0.999000	0.42656	0.693000	0.26187	0.995000	0.73285	0.1514:0.0:0.8486:0.0	10.905	0.46286	947	0.11584	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	4448.83	33	chr10	84513830	.	G	T	4448.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.383;DP=994;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.32;ReadPosRankSum=0.808;SOR=0.691	GT:AD:DP:GQ:PL	0/1:94,73:167:99:1873,0,2666	17	0	2	0
chr10	86942561	86942561	C	G	exonic	MMRN2	.	nonsynonymous SNV	MMRN2:NM_024756:exon6:c.G2223C:p.Q741H	.	399	1122	1	0	0	1	0.000445434	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	.	7.7e-05	0.00299521	0.0021	0	0.0002	0	0	3.004e-05	0	0.0150	0.0017788	275	154602	rs370702596	0.0009	0.0009	0.0005	0.0013	0.0139	0.0008	0.0008	0.0133	0.0130	5.974e-05	4.472e-05	0	0	0	0.0007	7.195e-06	0.0013	0.0139	0.0006	0.0006	0.0002	0.0009	0.0176	0.0005	0.0004	0.0146	0.0135	0	0	0	0	0	0	0	1.47e-05	0.0005	0.0176	0.028	0.46129	D	0.059	0.45961	T	0.694	0.41705	P	0.166	0.35067	B	0.195980	0.16723	N	0.575730	0.669275	0.30379	N	1.1	0.28011	L	2.47	0.14783	T	-1.99	0.45949	N	0.125	0.11769	-1.0785	0.07641	T	0.039	0.16892	T	10	0.0034052432	0.00060	T	.	.	.	0.103	0.29403	0.303	0.27164	0.364730456448	0.36084	0.13315211845469274	0.13239	0.228233673395	0.25376	0.27071928978	0.06235	T	0.02376	0.18078	T	-0.59589	0.00154	T	-0.616407	0.11469	T	0.0452531004255462	0.04648	T	0.377662	0.09049	T	0.15230013	0.34580	0.09240125	0.21774	0.15230013	0.34580	0.09240125	0.21774	-4.67	0.33039	T	.	.	0.237	0.47072	B	.	.	1.809946	0.23000	15.85	0.98273637571667871	0.39786	0.55518	0.29884	D	AEFDBI	0.198431	0.32529	N	-0.302185128404548	0.29064	1.608553	-0.317520196237071	0.27532	1.528435	0.9999895407173	0.51787	0.67177	0.52595	0	0.547309	0.14657	0	0.576033	0.28219	0	0.711	0.71501	0	.	.	5.48	4.57	0.55860	0.317000	0.19235	1.428000	0.26422	0.596000	0.33519	0.001000	0.13787	0.101000	0.22673	0.044000	0.14658	0.0:0.9218:0.0:0.0782	13.458	0.60664	857	0.34089	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1644.33	35	chr10	86942561	.	C	G	1644.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.193;DP=753;ExcessHet=0;FS=0.738;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.81;ReadPosRankSum=0.974;SOR=0.787	GT:AD:DP:GQ:PL	0/1:43,61:104:99:1658,0,1048	18	0	1	0
chr10	87094666	87094666	C	T	exonic	GLUD1	.	nonsynonymous SNV	GLUD1:NM_005271:exon1:c.G104A:p.G35E	Hyperinsulinism-hyperammonemia syndrome, Autosomal dominant	2	1517	3	0	0	3	0.000987817	.	.	.	311503	Monogenic_diabetes|Hyperinsulinism-hyperammonemia_syndrome|not_provided	MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625|MONDO:MONDO:0011717,MedGen:C1847555,OMIM:606762,Orphanet:35878|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.583	.	.	0.00279553	0.0037	0	0.0004	0	0	3.502e-05	0	0.0178	0.0015977	247	154602	rs552066337	0.0009	0.0009	0.0005	0.0013	0.0141	0.0008	0.0008	0.0134	0.0131	6.258e-05	5.174e-05	0	0	0	0.0002	6.435e-06	0.0012	0.0141	0.0005	0.0005	0.0002	0.0009	0.0160	0.0004	0.0004	0.0131	0.0120	0	0	0	0	0	0	0	1.475e-05	0.0005	0.0160	0.2	0.20381	T	0.133	0.34359	T	0.0	0.02946	B	0.001	0.04355	B	0.000939	0.41028	U	0.153194	0.919318	0.27330	N	0	0.06538	N	-4.02	0.96402	D	0.25	0.04456	N	0.399	0.43995	-0.1819	0.78133	T	0.650	0.87823	D	10	0.005878955	0.00132	T	.	.	.	0.583	0.83249	0.184	0.09259	0.939638754279	0.93900	0.5743792988521871	0.57366	1.45827535514	0.86294	0.841141343117	0.88268	D	0.220334	0.58359	T	-0.193088	0.21805	T	-0.0371598	0.67893	D	0.0257560539475116	0.01373	T	0.748325	0.36895	T	0.05232429	0.09742	0.11640203	0.28099	0.06651624	0.14318	0.09576285	0.22724	-5.925	0.45647	T	.	.	0.137	0.29806	B	.	.	2.692339	0.35150	19.82	0.9415303313019503	0.24353	0.12410	0.17252	N	AEFDGBHCI	0.073998	0.14818	N	-0.780528424652102	0.13817	0.6835145	-0.703221287123317	0.16881	0.8950581	0.999999999955945	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	3.65	2.71	0.31092	-0.040000	0.12056	1.382000	0.26043	-0.355000	0.05542	0.035000	0.20724	0.689000	0.26165	0.022000	0.11911	0.0:0.6523:0.2253:0.1223	4.819	0.12745	917	0.20147	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002548	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003846	0.02632	1344.33	40	chr10	87094666	.	C	T	1344.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.485;DP=734;ExcessHet=0;FS=5.61;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.2;ReadPosRankSum=-0.297;SOR=0.913	GT:AD:DP:GQ:PL	0/1:38,45:83:99:1358,0,1199	18	0	1	0
chr10	89462550	89462550	T	A	exonic	SLC16A12	.	nonsynonymous SNV	SLC16A12:NM_213606:exon3:c.A29T:p.N10I	Cataract 47, juvenile, with microcornea, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.0189753491615	.	.	1.007e-05	0	0	0	0	0	0	6.786e-05	6.5e-06	1	154602	rs771820490	8.907e-06	8.893e-06	5.454e-06	1.24e-05	3.481e-05	4.97e-06	3.83e-06	9.25e-06	4.56e-06	0	0	0	0	0	0	8.096e-06	1.658e-05	3.481e-05	1.972e-05	1.97e-05	0	4.038e-05	4.41e-05	5.24e-06	2.46e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.019	0.50132	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.08	0.20255	T	-0.27	0.98093	N	0.191	0.20925	-1.0170	0.24690	T	0.027	0.11663	T	7	0.07809138	0.12404	T	0.018975	0.41214	T	0.060	0.17295	0.355	0.35571	0.181679512989	0.17746	0.5128368487984207	0.51205	0.211705828522	0.23670	0.335425615311	0.15753	T	.	.	.	-0.415104	0.01839	T	-0.652517	0.08778	T	0.0846438417218263	0.10570	T	0.467453	0.13767	T	0.09921755	0.23412	0.07535768	0.16582	0.09921755	0.23412	0.07535768	0.16582	-3.243	0.13013	T	.	.	0.127	0.27009	B	.;.	.;.	2.012190	0.25571	16.81	0.97847787903822547	0.36372	0.16414	0.19378	N	AEFGI	0.157618	0.28315	N	-0.457669425244615	0.23480	1.261258	-0.475423285428469	0.22833	1.24215	8.43886281958375E-4	0.07902	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.66	3.31	0.37025	0.595000	0.23729	2.364000	0.32389	0.665000	0.62972	0.000000	0.06391	0.108000	0.22760	0.941000	0.48210	0.0:0.1654:0.1643:0.6702	4.657	0.12005	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	.	.	.	.	.	.	.	.	0.02632	989.33	34	chr10	89462550	.	T	A	989.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.466;DP=723;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.87;ReadPosRankSum=-1.372;SOR=0.758	GT:AD:DP:GQ:PL	0/1:48,43:91:99:1003,0,1271	18	0	1	0
chr10	101010553	101010570	CGGCTACGGCTGCGGCTA	-	exonic	PDZD7	.	nonframeshift deletion	PDZD7:NM_001195263:exon15:c.2319_2336del:p.R779_S784del	Usher syndrome, type IIC, GPR98/PDZD7 digenic, Autosomal recessive, Digenic dominant	5	1466	49	2	0	53	0.0177554	.	.	.	53293	PDZD7-related_disorder|not_specified|not_provided	.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0056	0.0019	0.0115	0	0	0.0097	0	0.0040	0.0003458	9	26028	rs397516634	0.0103	0.0098	0.0105	0.0101	0.0229	0.0102	0.0101	0.0197	0.0184	0.0017	0.0045	0.0057	0.0002	0.0015	0.0229	0.0119	0.0094	0.0039	0.0067	0.0067	0.0070	0.0064	0.0110	0.0064	0.0062	0.0104	0.0101	0.0020	0.0022	0.0081	0.0023	0.0012	0.0008	0.0238	0.0110	0.0086	0.0042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	3028.79	66	chr10	101010552	.	GCGGCTACGGCTGCGGCTA	G	3028.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.15;DP=1608;ExcessHet=0.119;FS=1.21;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=18.47;ReadPosRankSum=1.45;SOR=0.799	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:46,42:88:99:0|1:101010552_GCGGCTACGGCTGCGGCTA_G:1629,0,1796:101010552	17	0	2	0
chr10	101010558	101010558	A	0	exonic	PDZD7	.	.	.	Usher syndrome, type IIC, GPR98/PDZD7 digenic, Autosomal recessive, Digenic dominant	7	1461	48	2	4	56	0.0174849	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	1885.48	66	chr10	101010558	.	A	*	1885.48	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.261;DP=1633;ExcessHet=0.3672;FS=0.921;InbreedingCoeff=-0.0857;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=6.91;ReadPosRankSum=-0.049;SOR=0.656	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:46,42:88:99:0|1:101010552_GCGGCTACGGCTGCGGCTA_G:1629,0,1796:101010552	17	0	2	0
chr10	101010570	101010570	A	0	exonic	PDZD7	.	.	.	Usher syndrome, type IIC, GPR98/PDZD7 digenic, Autosomal recessive, Digenic dominant	64	116	447	888	7	2230	0.905499	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	36003.9	65	chr10	101010570	.	A	*	36003.9	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.62;DP=1710;ExcessHet=5.3738;FS=0.593;InbreedingCoeff=-0.3103;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=22.03;ReadPosRankSum=0.358;SOR=0.612	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,42:82:99:1|0:101010552_GCGGCTACGGCTGCGGCTA_G:3091,1310,1552:101010552	17	0	2	0
chr10	101019067	101019067	C	T	exonic	PDZD7	.	nonsynonymous SNV	PDZD7:NM_001195263:exon8:c.G1079A:p.G360D,PDZD7:NM_001351044:exon8:c.G1079A:p.G360D,PDZD7:NM_024895:exon8:c.G1079A:p.G360D	Usher syndrome, type IIC, GPR98/PDZD7 digenic, Autosomal recessive, Digenic dominant	2	1507	13	0	0	13	0.00429468	.	.	.	265991	Inborn_genetic_diseases|Retinal_dystrophy|not_provided	MeSH:D030342,MedGen:C0950123|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.072	0.00899217750928	.	.	0.0006	0	0.0007	0	0	0.0008	0.0048	0.0006	0.0001617	25	154602	rs571399433	0.0003	0.0003	0.0003	0.0003	0.0010	0.0003	0.0002	0.0004	0.0003	3.028e-05	0.0004	0.0002	0	0	0.0010	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	0.0007	0.0002	0.0002	0.0004	0.0003	2.404e-05	0	0.0007	0	0	0	0.0034	0.0004	0.0009	0.0004	0.228	0.18434	T	0.443	0.13215	T	0.005	0.12996	B	0.005	0.11217	B	0.105703	0.19646	N	0.492803	0.98498	0.24753	N	1.65	0.42232	L	2.98	0.09356	T	-0.14	0.09135	N	0.154	0.15888	-1.0280	0.21103	T	0.024	0.10284	T	10	0.058898628	0.06997	T	0.008992	0.23678	T	0.072	0.21020	0.257	0.19845	0.333326979144	0.32939	0.5014088594518032	0.50062	0.317216226453	0.33969	0.553047776222	0.46287	T	0.010354	0.09360	T	-0.38964	0.02705	T	-0.481311	0.24308	T	0.0284566191763888	0.01754	T	0.544846	0.18617	T	0.11914854	0.28059	0.17557009	0.40031	0.11914854	0.28059	0.17557009	0.40030	-4.626	0.32497	T	0.12456165840409393	0.12241	0.126	0.26794	B	.;.;.;.;.	.;.;.;.;.	1.784756	0.22693	15.72	0.97880526726528005	0.36601	0.40111	0.26364	N	ALL	0.306331	0.41351	N	-0.335476551159293	0.27809	1.52878	-0.270041959792153	0.29090	1.627078	1.0	0.98316	0.520426	0.21595	0	0.616487	0.53143	0	0.606814	0.37721	0	0.825845	0.99933	0	.	.	5.21	4.25	0.49658	2.330000	0.43544	1.581000	0.27475	0.524000	0.24156	0.049000	0.21372	0.002000	0.18203	0.605000	0.31514	0.0:0.8588:0.1412:0.0	15.205	0.72860	559	0.71409	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003597	0.000000	0.001359	0.000000	0.000000	0.000000	0.009494	0.003788	0.02632	1011.33	33	chr10	101019067	.	C	T	1011.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.868;DP=702;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.66;ReadPosRankSum=-0.42;SOR=0.65	GT:AD:DP:GQ:PL	0/1:35,34:69:99:1025,0,877	18	0	1	0
chr10	112404565	112404565	C	G	exonic	ACSL5	.	nonsynonymous SNV	ACSL5:NM_016234:exon4:c.C488G:p.S163C,ACSL5:NM_203379:exon4:c.C320G:p.S107C,ACSL5:NM_203380:exon4:c.C320G:p.S107C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.366	0.0429880580984	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1018514557	4.107e-06	4.104e-06	4.086e-06	4.127e-06	0.0002	1.48e-06	9.7e-07	8.4e-07	5.7e-07	0	0	0	0	0	0.0002	3.599e-06	1.656e-05	0	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.001	0.78490	D	0.003	0.76473	D	0.999	0.90584	D	0.976	0.73562	D	0.012635	0.29108	N	0.370099	0.984121	0.40103	D	4.025	0.96902	H	2.38	0.15843	T	-3.61	0.69477	D	0.566	0.58968	-0.4836	0.69238	T	0.195	0.54855	T	10	0.7600117	0.76273	D	0.042988	0.60749	D	0.366	0.68582	0.823	0.93527	0.774536553626	0.77246	0.5980557695497806	0.59736	0.583464882582	0.54057	0.413484722376	0.26939	T	0.273983	0.64645	T	-0.0145545	0.49626	T	-0.258683	0.48955	T	0.996402740478516	0.89278	D	0.978052	0.92224	D	0.7575764	0.81311	0.61439496	0.77557	0.7575764	0.81312	0.61439496	0.77558	-10.622	0.77545	D	.	.	0.133	0.34138	B	.;.;.;.;.	.;.;.;.;.	4.699378	0.75381	26.3	0.99246948841849725	0.56727	0.89033	0.49261	D	AEFBCI	0.910351	0.86816	D	0.896625663780745	0.91591	10.96269	0.803059275982461	0.90005	10.215	0.99987963227734	0.44625	0.732398	0.92422	0	0.743671	0.97443	0	0.547309	0.15389	0	0.550183	0.17644	0	.	.	5.15	5.15	0.70287	5.878000	0.69429	7.649000	0.63599	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.930000	0.46718	0.0:1.0:0.0:0.0	17.766	0.88387	841	0.37094	AMP-dependent synthetase/ligase;AMP-dependent synthetase/ligase;.;.;AMP-dependent synthetase/ligase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1855.33	33	chr10	112404565	.	C	G	1855.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.606;DP=761;ExcessHet=0;FS=5.028;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.72;ReadPosRankSum=0.143;SOR=0.355	GT:AD:DP:GQ:PL	0/1:47,71:118:99:1869,0,1325	18	0	1	0
chr10	113589703	113589703	A	T	exonic	NRAP	.	nonsynonymous SNV	NRAP:NM_001322945:exon40:c.T4943A:p.L1648Q,NRAP:NM_006175:exon40:c.T4946A:p.L1649Q,NRAP:NM_001261463:exon41:c.T5051A:p.L1684Q,NRAP:NM_198060:exon41:c.T5051A:p.L1684Q	.	425	1091	6	0	0	6	0.00274223	.	.	.	3191801	not_specified|NRAP-related_disorder	MedGen:CN169374|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.376	0.030079893334	0.0047	0.00219649	0.0033	0.0010	0.0018	0	0.0009	0.0049	0.0011	0.0022	0.0036028	557	154602	rs4918857	0.0060	0.0060	0.0062	0.0057	0.0070	0.0058	0.0058	0.0069	0.0068	0.0005	0.0019	0.0066	0	0.0006	0.0028	0.0070	0.0058	0.0024	0.0040	0.0040	0.0042	0.0037	0.0068	0.0037	0.0036	0.0063	0.0061	0.0013	0.0143	0.0020	0.0063	0	0.0007	0	0.0068	0.0014	0.0025	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.84330	D	0.000000	0.999905	0.51612	D	2.33	0.66821	M	1.78	0.30401	T	-3.45	0.67589	D	0.923	0.98466	-0.8965	0.48341	T	0.138	0.45470	T	10	0.031103611	0.01242	T	0.03008	0.52463	D	0.376	0.69443	.	.	0.448201132538	0.44443	0.7628759791928482	0.76235	0.433554578139	0.43508	0.636792838573	0.58108	T	0.087235	0.37897	T	-0.0952403	0.37210	T	0.0959671	0.76641	D	0.0169195477209409	0.00443	T	0.848715	0.53298	T	0.7869272	0.83082	0.8042382	0.88536	0.7869272	0.83084	0.8042382	0.88536	-6.124	0.47305	T	.	.	0.190	0.42185	B	.;.;.;.	.;.;.;.	4.751016	0.76717	26.6	0.99502846525534228	0.68147	0.94451	0.61208	D	AEFDBHCI	0.980104	0.99831	D	0.838838439721313	0.88463	9.588076	0.84220955289358	0.92555	11.49328	0.999999997139492	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.93	5.93	0.95888	7.534000	0.80907	11.220000	0.89740	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	16.394	0.83400	904	0.23766	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	655.33	38	chr10	113589703	.	A	T	655.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.281;DP=730;ExcessHet=0;FS=0.978;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.08;ReadPosRankSum=0.941;SOR=0.534	GT:AD:DP:GQ:PL	0/1:37,28:65:99:669,0,977	18	0	1	0
chr10	117341050	117341050	C	T	exonic	PDZD8	.	nonsynonymous SNV	PDZD8:NM_173791:exon2:c.G925A:p.E309K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304	0.111422988151	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	0.33585	T	0.284	0.21411	T	0.104	0.25941	B	0.024	0.20255	B	0.100580	0.19880	N	0.530412	0.918501	0.36608	D	1.04	0.26193	L	-1.98	0.85247	D	-0.39	0.13611	N	0.56	0.58458	-0.3391	0.73870	T	0.434	0.77478	T	10	0.2526929	0.42627	T	0.111423	0.78920	D	0.304	0.62510	0.426	0.47185	0.406687239423	0.40287	0.3484412965450981	0.34758	0.878990842918	0.69697	0.551437139511	0.46060	T	0.004486	0.03887	T	0.0534098	0.58780	T	-0.161057	0.58257	T	0.401935211681401	0.29015	T	0.631737	0.24648	T	0.12929	0.30201	0.1091909	0.26311	0.12929	0.30201	0.1091909	0.26311	-4.196	0.26694	T	.	.	0.138	0.30103	B	.	.	2.876239	0.38048	20.6	0.99707916019332055	0.81143	0.81768	0.41106	D	AEFBI	0.402723	0.47670	N	-0.00176634886459942	0.41776	2.504867	0.196643706894966	0.49661	3.166775	0.999999995606444	0.74766	0.706298	0.61202	0	0.708844	0.79440	0	0.688494	0.62686	0	0.613276	0.41899	0	.	.	5.68	5.68	0.88021	2.759000	0.47253	7.612000	0.61951	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	15.630	0.76655	723	0.55174	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1176	1457.48	127	chr10	117341050	.	C	T	1457.48	.	AC=4;AF=0.118;AN=34;BaseQRankSum=-4.099;DP=1718;ExcessHet=4.0268;FS=278.265;InbreedingCoeff=-0.3117;MLEAC=4;MLEAF=0.118;MQ=60;MQRankSum=0;QD=1.56;ReadPosRankSum=1.31;SOR=9.974	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:92,25:117:99:0|1:117341048_C_T:208,0,2803:117341048	13	0	4	2
chr10	119172416	119172416	C	A	exonic	PRDX3	.	nonsynonymous SNV	PRDX3:NM_001302272:exon5:c.G517T:p.G173C,PRDX3:NM_006793:exon5:c.G517T:p.G173C	.	431	1078	13	0	0	13	0.00599355	.	.	.	2809662	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.640	0.0344172456427	0.0070	0.00139776	0.0052	0.0016	0.0029	0	0.0017	0.0074	0.0055	0.0042	0.0052457	811	154602	rs11554923	0.0068	0.0068	0.0069	0.0068	0.0078	0.0067	0.0067	0.0077	0.0076	0.0011	0.0042	0.0047	2.519e-05	0.0017	0.0076	0.0078	0.0065	0.0045	0.0051	0.0051	0.0051	0.0050	0.0101	0.0048	0.0046	0.0088	0.0083	0.0012	0.0011	0.0101	0.0066	0	0.0010	0.0068	0.0073	0.0061	0.0039	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	4.95	0.99826	H	1.92	0.23082	T	-7.9	0.96191	D	0.838	0.83371	0.102	0.84209	D	0.279	0.65089	T	10	0.024121523	0.00653	T	0.034417	0.55661	D	0.640	0.86283	.	.	0.785827271255	0.78384	0.8953526697202191	0.89506	0.428384344672	0.43156	0.810923039913	0.83634	D	0.516345	0.83001	D	-0.0559381	0.43538	T	0.154834	0.80487	D	0.166894767751732	0.18366	T	0.975702	0.91457	D	0.948423	0.96106	0.87563336	0.93257	0.948423	0.96106	0.87563336	0.93258	-8.721	0.65883	D	.	.	0.489	0.64094	A	.	.	4.955172	0.81888	27.7	0.99714948005809856	0.81633	0.99567	0.97521	D	AEFDBI	0.947911	0.95899	D	1.09465179467534	0.98034	17.27989	0.968211406184773	0.97912	17.01693	1.0	0.98316	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.19	5.19	0.71428	7.847000	0.85186	4.018000	0.41224	0.530000	0.24713	1.000000	0.71638	0.994000	0.32194	0.992000	0.67800	0.0:1.0:0.0:0.0	19.113	0.93307	923	0.18507	Alkyl hydroperoxide reductase subunit C/ Thiol specific antioxidant|Thioredoxin 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	0.004028	0.000000	0.001359	0.000000	0.100000	0.008621	0.006098	0.011364	0.05263	2760.83	33	chr10	119172416	.	C	A	2760.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.244;DP=838;ExcessHet=0.119;FS=4.294;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.27;ReadPosRankSum=-0.713;SOR=0.489	GT:AD:DP:GQ:PL	0/1:71,62:133:99:1458,0,1764	17	0	2	0
chr10	122637181	122637181	C	A	exonic	DMBT1	.	nonsynonymous SNV	DMBT1:NM_004406:exon38:c.C4540A:p.Q1514K,DMBT1:NM_017579:exon50:c.C6394A:p.Q2132K,DMBT1:NM_001320644:exon51:c.C6421A:p.Q2141K,DMBT1:NM_007329:exon51:c.C6424A:p.Q2142K,DMBT1:NM_001377530:exon54:c.C6811A:p.Q2271K	.	423	1089	10	0	0	10	0.00457038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.282	.	.	0.00499201	0.0032	0.0001	0.0004	0.0001	0	1.499e-05	0.0033	0.0231	0.0028072	434	154602	rs543589037	0.0014	0.0014	0.0008	0.0020	0.0223	0.0013	0.0013	0.0214	0.0211	8.961e-05	0	0	0	0	0.0005	1.349e-05	0.0012	0.0223	0.0008	0.0008	0.0004	0.0012	0.0249	0.0007	0.0006	0.0212	0.0199	2.404e-05	0	0	0	0.0002	0	0	0	0	0.0249	0.054	0.47745	T	0.183	0.29740	T	0.775	0.45403	P	0.225	0.42203	B	0.055431	0.22643	U	0.216309	0.844098	0.28589	N	1.67	0.42885	L	-1.57	0.81900	D	-1.83	0.46673	N	0.287	0.35301	-0.1895	0.77940	T	0.439	0.77796	T	10	0.005826175	0.00130	T	.	.	.	0.282	0.59981	.	.	0.847530603234	0.84606	0.21228382884223634	0.21144	0.334990745553	0.35507	0.282208532095	0.07802	T	0.151881	0.49203	T	-0.397485	0.02405	T	-0.32748	0.41748	T	0.0307138533372576	0.02100	T	0.706229	0.31676	T	0.17294754	0.38015	0.17847337	0.40518	0.17294754	0.38014	0.17847337	0.40517	-9.379	0.70104	D	.	.	0.166	0.43640	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.595446	0.33679	19.41	0.9678928379493168	0.31105	0.22640	0.21814	N	AEFDBHCI	0.093722	0.18959	N	-0.0455109477000612	0.39803	2.353221	-0.0275343976084883	0.38477	2.267411	0.978743176698853	0.29954	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.29	5.29	0.74430	1.889000	0.39352	.	.	0.599000	0.40250	0.085000	0.22462	0.019000	0.20708	0.588000	0.31090	0.1579:0.842:0.0:0.0	13.385	0.60237	570	0.70478	.;.;.;.;Zona pellucida domain|Zona pellucida domain|Zona pellucida domain;.;Zona pellucida domain|Zona pellucida domain|Zona pellucida domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.018939	0.05263	2703.83	35	chr10	122637181	.	C	A	2703.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.42;DP=828;ExcessHet=0.119;FS=1.574;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.51;ReadPosRankSum=-0.455;SOR=0.803	GT:AD:DP:GQ:PL	0/1:78,50:128:99:1279,0,1966	17	0	2	0
chr10	122983003	122983003	G	C	exonic	PSTK	.	nonsynonymous SNV	PSTK:NM_001363531:exon2:c.G487C:p.V163L,PSTK:NM_153336:exon2:c.G487C:p.V163L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.217	0.00704594610802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.48642	T	0.192	0.33554	T	0.004	0.12183	B	0.022	0.19653	B	0.000010	0.62929	D	0.064498	0.958085	0.38057	D	1.76	0.45711	L	2.91	0.10008	T	-0.84	0.22944	N	0.669	0.67736	-1.0661	0.10293	T	0.029	0.12585	T	10	0.50841606	0.61954	D	0.007046	0.18676	T	0.217	0.51112	0.724	0.85850	0.349647731962	0.34572	0.6258530157450021	0.62518	0.263583704205	0.28913	0.645784556866	0.59386	T	0.019375	0.15446	T	-0.000810022	0.51544	T	-0.23894	0.50901	T	0.890971660614014	0.54186	D	0.877812	0.59215	D	0.22272539	0.44877	0.21593522	0.46201	0.22272539	0.44877	0.21593522	0.46200	-10.869	0.78934	D	.	.	0.647	0.71035	P	.;.;.	.;.;.	3.675766	0.52298	23.2	0.99376505445614849	0.61671	0.97325	0.74040	D	AEFBI	0.695338	0.65404	D	-0.0452252440071354	0.39816	2.354205	0.149695039779814	0.47125	2.947556	0.999999870920904	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.44	5.44	0.79348	6.097000	0.71099	.	.	0.650000	0.52971	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	16.179	0.81701	926	0.17793	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	1062.87	83	chr10	122983003	.	G	C	1062.87	.	AC=12;AF=0.333;AN=36;BaseQRankSum=-1.7;DP=2257;ExcessHet=11.1788;FS=178.411;InbreedingCoeff=-0.4627;MLEAC=12;MLEAF=0.333;MQ=60;MQRankSum=0;QD=0.87;ReadPosRankSum=0.593;SOR=13.029	GT:AD:DP:GQ:PL	0/1:96,31:141:46:46,0,1691	6	0	12	1
chr10	124989543	124989543	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon9:c.A1517G:p.N506S,CTBP2:NM_022802:exon9:c.A2933G:p.N978S,CTBP2:NM_001321013:exon10:c.A1313G:p.N438S,CTBP2:NM_001083914:exon11:c.A1313G:p.N438S,CTBP2:NM_001290214:exon11:c.A1313G:p.N438S,CTBP2:NM_001290215:exon11:c.A1313G:p.N438S,CTBP2:NM_001321012:exon11:c.A1313G:p.N438S,CTBP2:NM_001321014:exon11:c.A1313G:p.N438S,CTBP2:NM_001329:exon11:c.A1313G:p.N438S	.	430	785	300	7	0	314	0.166667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.362	0.0412206901109	.	.	.	.	.	.	.	.	.	.	0.0011526	30	26028	rs75839774	4.107e-06	4.104e-06	5.449e-06	2.752e-06	4.497e-06	1.48e-06	9.7e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.497e-06	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.61437	D	0.553	0.32461	T	0.017	0.35330	B	0.044	0.44683	B	0.040786	0.24019	N	0.433304	0.546531	0.31369	N	1.1	0.28011	L	-1.58	0.82806	D	-0.98	0.25986	N	0.097	0.39153	-0.2662	0.75916	T	0.330	0.69766	T	10	0.12751639	0.24250	T	0.041221	0.59806	D	0.362	0.68230	0.075	0.00517	0.760080849401	0.75790	0.26369227103169535	0.26282	1.68067603589	0.89969	0.448414385319	0.31727	T	0.157679	0.50038	T	0.0363132	0.56560	T	-0.185615	0.55999	T	0.436808287713247	0.30312	T	0.90311	0.67973	D	0.08655811	0.20123	0.08484771	0.19547	0.08655811	0.20122	0.08484771	0.19547	-2.304	0.04577	T	.	.	0.070	0.03588	B	.;.;.;.;.;.	.;.;.;.;.;.	2.477890	0.31950	18.89	0.9913628706847909	0.53410	0.86806	0.46168	D	AEFDGBCI	0.540087	0.55679	D	-0.275999058280499	0.30077	1.67381	-0.0903501737703044	0.35788	2.074695	0.999999280419097	0.74766	0.722319	0.85440	0	0.00446	0.00028	3	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.12	3.98	0.45383	2.629000	0.46152	0.448000	0.18493	0.665000	0.62972	1.000000	0.71638	0.999000	0.35428	1.000000	0.97212	0.0:0.0728:0.0:0.9272	11.061	0.47165	940	0.13648	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4737	20592.3	168	chr10	124989543	.	T	C	20592.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-3.212;DP=2545;ExcessHet=38.2876;FS=17.974;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=49.65;MQRankSum=-8.998;QD=8.51;ReadPosRankSum=0.06;SOR=0.178	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,46:144:99:0|1:124989533_G_A:1611,0,3922:124989533	1	0	18	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4474	8765.83	174	chr10	124989564	.	TG	T	8765.83	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-3.94;DP=2670;ExcessHet=31.086;FS=16.933;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=51.59;MQRankSum=-8.373;QD=3.69;ReadPosRankSum=-1.813;SOR=0.178	GT:AD:DP:GQ:PL	0/1:108,36:144:99:888,0,3588	2	0	17	0
chr10	124989579	124989579	G	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon9:c.C1481G:p.A494G,CTBP2:NM_022802:exon9:c.C2897G:p.A966G,CTBP2:NM_001321013:exon10:c.C1277G:p.A426G,CTBP2:NM_001083914:exon11:c.C1277G:p.A426G,CTBP2:NM_001290214:exon11:c.C1277G:p.A426G,CTBP2:NM_001290215:exon11:c.C1277G:p.A426G,CTBP2:NM_001321012:exon11:c.C1277G:p.A426G,CTBP2:NM_001321014:exon11:c.C1277G:p.A426G,CTBP2:NM_001329:exon11:c.C1277G:p.A426G	.	436	984	100	2	0	104	0.0501931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.523	0.0686986444289	.	.	.	.	.	.	.	.	.	.	6.47e-05	10	154602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.68238	D	0.102	0.48594	T	0.939	0.77913	P	0.656	0.73362	P	0.001392	0.39175	N	0.252302	0.999998	0.58761	D	1.975	0.53506	M	-1.82	0.85003	D	-1.94	0.45042	N	0.486	0.62781	0.438	0.89660	D	0.671	0.88602	D	10	0.37102997	0.53476	T	0.068699	0.70524	D	0.523	0.79765	0.146	0.04941	0.760411053773	0.75822	0.4168685752787953	0.41602	1.88731367476	0.92685	0.701414048672	0.67348	T	0.299078	0.67161	T	0.208989	0.74736	D	0.0624214	0.74406	D	0.93170565366745	0.59725	D	0.741926	0.36245	T	0.23596977	0.46441	0.21558693	0.46153	0.23596977	0.46441	0.21558693	0.46152	-4.06	0.25701	T	.	.	0.324	0.54775	B	.;.;.;.;.;.	.;.;.;.;.;.	5.064118	0.84424	28.3	0.99719618450600933	0.81914	0.96716	0.70558	D	AEFDGBCI	0.937767	0.93600	D	0.680611287748224	0.78361	6.856259	0.718927581574258	0.83819	8.122182	1.0	0.98316	0.722319	0.85440	0	0.00446	0.00028	3	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.12	5.12	0.69459	9.506000	0.96988	9.922000	0.82512	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.939000	0.47918	0.0:0.0:1.0:0.0	18.759	0.91807	940	0.13648	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3571	1989.41	182	chr10	124989579	.	G	C	1989.41	.	AC=10;AF=0.357;AN=28;BaseQRankSum=-0.436;DP=2864;ExcessHet=6.9875;FS=14.618;InbreedingCoeff=-0.4859;MLEAC=12;MLEAF=0.429;MQ=53.46;MQRankSum=-7.748;QD=1.37;ReadPosRankSum=-3.038;SOR=0.509	GT:AD:DP:GQ:PL	0/1:129,25:154:99:249,0,3468	4	0	10	5
chr10	124994489	124994489	T	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.A964C:p.N322H,CTBP2:NM_022802:exon5:c.A2380C:p.N794H,CTBP2:NM_001321013:exon6:c.A760C:p.N254H,CTBP2:NM_001083914:exon7:c.A760C:p.N254H,CTBP2:NM_001290214:exon7:c.A760C:p.N254H,CTBP2:NM_001290215:exon7:c.A760C:p.N254H,CTBP2:NM_001321012:exon7:c.A760C:p.N254H,CTBP2:NM_001321014:exon7:c.A760C:p.N254H,CTBP2:NM_001329:exon7:c.A760C:p.N254H	.	425	876	218	3	0	224	0.11336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.855	0.287995004976	.	.	.	.	.	.	.	.	.	.	.	.	.	rs913075834	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.53900	D	0.014	0.69154	D	1.0	0.90584	D	0.995	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.03	0.86425	M	-1.64	0.82533	D	-4.7	0.80510	D	0.955	0.96416	0.598	0.91868	D	0.722	0.90485	D	10	0.93609107	0.92939	D	0.287995	0.90464	D	0.855	0.95544	0.749	0.87988	0.908261012674	0.90733	0.9221523146368497	0.92192	2.0305426451	0.94091	0.826209723949	0.85982	D	0.743281	0.92907	D	0.230793	0.76796	D	0.0937411	0.76494	D	0.996190285808554	0.88852	D	0.970303	0.89317	D	0.91641486	0.92901	0.8315015	0.90282	0.91641486	0.92902	0.8315015	0.90283	-11.706	0.83405	D	.	.	0.818	0.83534	P	.;.;.;.;.;.	.;.;.;.;.;.	4.739043	0.76411	26.5	0.99694374199735813	0.80180	0.94484	0.61314	D	AEFDGBCI	0.936668	0.93334	D	0.798915340390827	0.86037	8.759083	0.761626191030682	0.87022	9.081087	0.999999999999979	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.36	5.36	0.76624	7.674000	0.83146	7.884000	0.72673	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.357	0.74148	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4211	5963.25	35	chr10	124994489	.	T	G	5963.25	.	AC=16;AF=0.421;AN=38;BaseQRankSum=2.41;DP=2809;ExcessHet=25.4433;FS=26.988;InbreedingCoeff=-0.7286;MLEAC=16;MLEAF=0.421;MQ=58.25;MQRankSum=-7.677;QD=2.44;ReadPosRankSum=-3.639;SOR=3.339	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:134,20:154:99:0|1:124994489_T_G:436,0,5537:124994489	3	0	16	0
chr10	124994501	124994501	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.C952T:p.H318Y,CTBP2:NM_022802:exon5:c.C2368T:p.H790Y,CTBP2:NM_001321013:exon6:c.C748T:p.H250Y,CTBP2:NM_001083914:exon7:c.C748T:p.H250Y,CTBP2:NM_001290214:exon7:c.C748T:p.H250Y,CTBP2:NM_001290215:exon7:c.C748T:p.H250Y,CTBP2:NM_001321012:exon7:c.C748T:p.H250Y,CTBP2:NM_001321014:exon7:c.C748T:p.H250Y,CTBP2:NM_001329:exon7:c.C748T:p.H250Y	.	426	821	272	3	0	278	0.144792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.771	0.0948171006631	.	.	.	.	.	.	.	.	.	.	.	.	.	rs978705792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.42487	T	0.297	0.31125	T	0.868	0.47740	P	0.617	0.54186	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.11	0.08516	N	-1.36	0.80125	T	-5.44	0.85541	D	0.915	0.92084	-0.1289	0.79427	T	0.435	0.77536	T	10	0.7908057	0.78643	D	0.094817	0.76319	D	0.771	0.92294	0.486	0.56939	0.919217431084	0.91840	0.9252807218489828	0.92505	1.25117579951	0.81802	0.887714266777	0.94973	D	0.545829	0.84532	D	0.352326	0.86659	D	0.268315	0.86483	D	0.94890558719635	0.62996	D	0.972303	0.89961	D	0.826035	0.85629	0.7361207	0.84404	0.826035	0.85631	0.7361207	0.84405	-9.649	0.71784	D	.	.	0.781	0.76420	P	.;.;.;.;.;.	.;.;.;.;.;.	4.665783	0.74522	26.2	0.99760421591352766	0.85011	0.95027	0.63172	D	AEFDGBCI	0.931287	0.91988	D	0.465501566800638	0.65087	4.778689	0.565123419115292	0.72454	5.812716	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	7.771000	0.84203	11.823000	0.97298	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	8869.86	35	chr10	124994501	.	G	A	8869.86	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-1.103;DP=3037;ExcessHet=31.086;FS=31.76;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=57.66;MQRankSum=-6.926;QD=3.22;ReadPosRankSum=-2.916;SOR=3.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:139,25:164:99:0|1:124994489_T_G:631,0,5761:124994489	2	0	17	0
chr10	124994505	124994505	A	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.T948A:p.H316Q,CTBP2:NM_022802:exon5:c.T2364A:p.H788Q,CTBP2:NM_001321013:exon6:c.T744A:p.H248Q,CTBP2:NM_001083914:exon7:c.T744A:p.H248Q,CTBP2:NM_001290214:exon7:c.T744A:p.H248Q,CTBP2:NM_001290215:exon7:c.T744A:p.H248Q,CTBP2:NM_001321012:exon7:c.T744A:p.H248Q,CTBP2:NM_001321014:exon7:c.T744A:p.H248Q,CTBP2:NM_001329:exon7:c.T744A:p.H248Q	.	423	816	278	5	0	288	0.15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.476	0.0731369313184	.	.	.	.	.	.	.	.	.	.	.	.	.	rs937366751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	0.46513	D	0.259	0.44702	T	0.682	0.41464	P	0.219	0.43945	B	0.000000	0.84330	D	0.000000	0.999904	0.50806	D	-0.715	0.01801	N	-1.26	0.79176	T	-6.79	0.93135	D	0.687	0.70000	-0.8006	0.55109	T	0.184	0.53255	T	10	0.5356107	0.63429	D	0.073137	0.71713	D	0.476	0.76816	0.447	0.50629	0.947376611969	0.94682	0.8013614072212495	0.80090	0.902566627065	0.70693	0.888023793697	0.95012	D	0.559992	0.85254	D	0.155552	0.69787	D	-0.0143363	0.69401	D	0.887895047664642	0.53844	D	0.743426	0.36288	T	0.90044665	0.91423	0.7164848	0.83265	0.90044665	0.91424	0.7164848	0.83266	-12.552	0.89160	D	.	.	0.886	0.85521	P	.;.;.;.;.;.	.;.;.;.;.;.	3.763339	0.54010	23.4	0.97895156658106663	0.36704	0.72838	0.35639	D	AEFDGBCI	0.464485	0.51296	N	-0.261912955812249	0.30631	1.70973	-0.146100228405978	0.33558	1.920874	0.999999244525417	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	1.37	0.21200	1.883000	0.39293	2.678000	0.33996	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.5559:0.0:0.4441:0.0	8.31	0.31226	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4474	9100.86	35	chr10	124994505	.	A	T	9100.86	.	AC=17;AF=0.447;AN=38;BaseQRankSum=2.29;DP=3109;ExcessHet=31.086;FS=32.046;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=57.53;MQRankSum=-6.856;QD=3.31;ReadPosRankSum=-2.157;SOR=3.807	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:141,25:166:99:0|1:124994489_T_G:625,0,5797:124994489	2	0	17	0
chr10	124994530	124994530	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.C923T:p.S308F,CTBP2:NM_022802:exon5:c.C2339T:p.S780F,CTBP2:NM_001321013:exon6:c.C719T:p.S240F,CTBP2:NM_001083914:exon7:c.C719T:p.S240F,CTBP2:NM_001290214:exon7:c.C719T:p.S240F,CTBP2:NM_001290215:exon7:c.C719T:p.S240F,CTBP2:NM_001321012:exon7:c.C719T:p.S240F,CTBP2:NM_001321014:exon7:c.C719T:p.S240F,CTBP2:NM_001329:exon7:c.C719T:p.S240F	.	421	688	403	10	0	423	0.235131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.938	0.47632593724	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs374871777	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.59928	D	0.001	0.83351	D	1.0	0.90584	D	0.993	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.465	0.71551	M	-1.61	0.82254	D	-5.08	0.82896	D	0.976	0.98657	0.694	0.93099	D	0.759	0.91795	D	10	0.9291788	0.92260	D	0.476326	0.94766	D	0.938	0.98636	0.718	0.85319	0.963037453765	0.96263	0.9856555258906051	0.98558	2.08621322631	0.94675	0.860175311565	0.91136	D	0.733508	0.92560	D	0.422049	0.91127	D	0.368468	0.91016	D	0.994980752468109	0.86633	D	0.836416	0.50788	T	0.98504084	0.99469	0.92532665	0.96770	0.98504084	0.99469	0.92532665	0.96771	-14.995	0.96879	D	.	.	0.993	0.95154	P	.;.;.;.;.;.	.;.;.;.;.;.	5.187974	0.87005	29.1	0.99852028210273314	0.93102	0.95134	0.63563	D	AEFDGBCI	0.931287	0.91988	D	0.925236055449727	0.92941	11.72177	0.873600535312142	0.94317	12.66702	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	9.602000	0.97623	11.823000	0.97298	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4737	13165.0	224	chr10	124994530	.	G	A	13165.0	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.518;DP=3717;ExcessHet=38.2876;FS=52.691;InbreedingCoeff=-0.9045;MLEAC=18;MLEAF=0.474;MQ=56.99;MQRankSum=-6.295;QD=4.31;ReadPosRankSum=1.03;SOR=4.688	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:130,31:161:99:0|1:124994523_G_A:861,0,5280:124994523	1	0	18	0
chr10	124994542	124994542	C	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.G911A:p.S304N,CTBP2:NM_022802:exon5:c.G2327A:p.S776N,CTBP2:NM_001321013:exon6:c.G707A:p.S236N,CTBP2:NM_001083914:exon7:c.G707A:p.S236N,CTBP2:NM_001290214:exon7:c.G707A:p.S236N,CTBP2:NM_001290215:exon7:c.G707A:p.S236N,CTBP2:NM_001321012:exon7:c.G707A:p.S236N,CTBP2:NM_001321014:exon7:c.G707A:p.S236N,CTBP2:NM_001329:exon7:c.G707A:p.S236N	.	418	797	293	14	0	321	0.167624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.881	0.520636706354	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs78155918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.004	0.79402	D	0.994	0.66517	D	0.972	0.72692	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.19	0.88972	M	-1.86	0.84341	D	-2.9	0.61580	D	0.951	0.95956	0.923	0.96008	D	0.835	0.94461	D	10	0.96767014	0.96284	D	0.520637	0.95441	D	0.881	0.96502	0.859	0.95718	0.8508886717	0.84945	0.9945051231415541	0.99447	1.72531923595	0.90642	0.895219087601	0.95893	D	0.849948	0.96576	D	0.195726	0.73494	D	0.04337	0.73148	D	0.993175552752073	0.83871	D	0.98969	0.96662	D	0.9860643	0.99535	0.9414922	0.97865	0.9860643	0.99535	0.9414922	0.97866	-14.163	0.96648	D	.	.	0.990	0.93538	P	.;.;.;.;.;.	.;.;.;.;.;.	4.768549	0.77163	26.6	0.99793032458852304	0.87839	0.92617	0.56134	D	AEFDGBCI	0.921115	0.89410	D	0.951529578297244	0.94047	12.46209	0.869409228877299	0.94098	12.50256	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	7.568000	0.81546	7.667000	0.64568	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:1.0:0.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4722	6669.77	218	chr10	124994542	.	C	T	6669.77	.	AC=17;AF=0.472;AN=36;BaseQRankSum=-2.167;DP=3803;ExcessHet=31.086;FS=61.277;InbreedingCoeff=-0.8537;MLEAC=18;MLEAF=0.5;MQ=56.82;MQRankSum=-6.243;QD=2.29;ReadPosRankSum=2.29;SOR=5.37	GT:AD:DP:GQ:PL	0/1:130,32:162:99:449,0,3749	1	0	17	1
chr10	124994563	124994563	A	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.T890A:p.L297Q,CTBP2:NM_022802:exon5:c.T2306A:p.L769Q,CTBP2:NM_001321013:exon6:c.T686A:p.L229Q,CTBP2:NM_001083914:exon7:c.T686A:p.L229Q,CTBP2:NM_001290214:exon7:c.T686A:p.L229Q,CTBP2:NM_001290215:exon7:c.T686A:p.L229Q,CTBP2:NM_001321012:exon7:c.T686A:p.L229Q,CTBP2:NM_001321014:exon7:c.T686A:p.L229Q,CTBP2:NM_001329:exon7:c.T686A:p.L229Q	.	408	769	327	18	0	363	0.190952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.960	0.547155886187	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs150320719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.017	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	2.835	0.82492	M	-1.85	0.84267	D	-5.78	0.88699	D	0.932	0.93841	0.754	0.93845	D	0.782	0.92582	D	10	0.9727028	0.96922	D	0.547156	0.95809	D	0.960	0.99376	0.857	0.95604	0.951774941741	0.95126	0.9701566259621512	0.97004	2.04308220201	0.94282	0.848910570145	0.89450	D	0.853663	0.96692	D	0.45783	0.92829	D	0.419864	0.92740	D	0.999412894248962	0.97310	D	0.830117	0.49576	T	0.9576254	0.97040	0.9405844	0.97806	0.9576254	0.97041	0.9405844	0.97806	-13.719	0.92108	D	.	.	0.992	0.94272	P	.;.;.;.;.;.	.;.;.;.;.;.	5.061375	0.84364	28.3	0.99631799569558666	0.76081	0.94544	0.61510	D	AEFDGBCI	0.948042	0.95924	D	0.879361810884359	0.90712	10.53043	0.831570877214738	0.91895	11.12529	0.999999999999983	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.42	5.42	0.78666	8.947000	0.92735	11.208000	0.89295	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.466	0.75135	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	6662.69	214	chr10	124994563	.	A	T	6662.69	.	AC=18;AF=0.5;AN=36;BaseQRankSum=-2.888;DP=3853;ExcessHet=38.2876;FS=70.258;InbreedingCoeff=-0.9487;MLEAC=19;MLEAF=0.528;MQ=56.72;MQRankSum=-6.4;QD=2.12;ReadPosRankSum=3.59;SOR=5.482	GT:AD:DP:GQ:PL	0/1:132,34:166:99:435,0,3790	0	0	18	1
chr10	124994577	124994577	C	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.G876T:p.Q292H,CTBP2:NM_022802:exon5:c.G2292T:p.Q764H,CTBP2:NM_001321013:exon6:c.G672T:p.Q224H,CTBP2:NM_001083914:exon7:c.G672T:p.Q224H,CTBP2:NM_001290214:exon7:c.G672T:p.Q224H,CTBP2:NM_001290215:exon7:c.G672T:p.Q224H,CTBP2:NM_001321012:exon7:c.G672T:p.Q224H,CTBP2:NM_001321014:exon7:c.G672T:p.Q224H,CTBP2:NM_001329:exon7:c.G672T:p.Q224H	.	408	580	516	18	0	552	0.32243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.696	0.0892909269972	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs80025996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.63226	D	0.087	0.69154	T	0.964	0.68779	D	0.898	0.69447	P	0.000000	0.84330	D	0.000000	0.999957	0.58761	D	0.49	0.13296	N	-1.71	0.83815	D	-3.39	0.66896	D	0.743	0.76111	0.130	0.84714	D	0.526	0.82375	D	10	0.69303375	0.71973	D	0.089291	0.75298	D	0.696	0.89007	0.404	0.43573	0.949204094444	0.94866	0.8408413105034186	0.84044	1.71814521226	0.90529	0.835075438023	0.87341	D	0.524087	0.83410	D	0.323687	0.84732	D	0.227177	0.84532	D	0.984627544879913	0.75871	D	0.969203	0.88895	D	0.8669297	0.88620	0.72212815	0.83591	0.8669297	0.88622	0.72212815	0.83592	-9.982	0.77738	D	.	.	0.579	0.68002	P	.;.;.;.;.;.	.;.;.;.;.;.	4.008335	0.59116	24.1	0.99735057696966967	0.83047	0.87870	0.47561	D	AEFDGBCI	0.735142	0.68105	D	0.394708730247093	0.61135	4.310599	0.421330055103997	0.62895	4.513037	0.999999999997443	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.42	4.51	0.54589	3.891000	0.55940	4.055000	0.41540	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.9224:0.0:0.0776	13.270	0.59589	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	18811.3	222	chr10	124994577	.	C	A	18811.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-4.155;DP=3962;ExcessHet=48.2876;FS=72.251;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=56.8;MQRankSum=-6.921;QD=5.38;ReadPosRankSum=2.92;SOR=5.081	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:138,38:176:99:0|1:124994577_C_A:1140,0,5627:124994577	0	0	19	0
chr10	125003036	125003036	C	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.G486T:p.K162N,CTBP2:NM_022802:exon3:c.G1902T:p.K634N,CTBP2:NM_001321013:exon4:c.G282T:p.K94N,CTBP2:NM_001083914:exon5:c.G282T:p.K94N,CTBP2:NM_001290214:exon5:c.G282T:p.K94N,CTBP2:NM_001290215:exon5:c.G282T:p.K94N,CTBP2:NM_001321012:exon5:c.G282T:p.K94N,CTBP2:NM_001321014:exon5:c.G282T:p.K94N,CTBP2:NM_001329:exon5:c.G282T:p.K94N	.	419	630	463	10	0	483	0.277108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.295	0.0466189854146	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs201760950	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.568e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.04	0.43708	D	0.12	0.58089	T	0.986	0.61523	D	0.89	0.63157	P	0.000000	0.84330	N	0.042861	0.999994	0.58761	D	1.115	0.28702	L	0.72	0.50976	T	-4.42	0.80425	D	0.797	0.79696	-0.8284	0.53403	T	0.177	0.52272	T	10	0.7330282	0.74429	D	0.046619	0.62540	D	0.295	0.61502	0.506	0.60078	0.669401567584	0.66661	0.9683590239784833	0.96823	1.29775370337	0.82942	0.700282335281	0.67184	T	0.552971	0.84897	D	-0.0504497	0.44379	T	-0.310244	0.43632	T	0.989160597324371	0.79417	D	0.748325	0.36895	T	0.7315896	0.79813	0.47296822	0.69449	0.7315896	0.79814	0.47296822	0.69450	-15.293	0.98237	D	.	.	0.987	0.92764	P	.;.;.;.;.;.	.;.;.;.;.;.	4.828208	0.78704	27.0	0.99659729855249335	0.77883	0.88851	0.48981	D	AEFDGBCI	0.619890	0.60515	D	0.116058801363205	0.47212	2.950075	0.0734135689233688	0.43216	2.628043	0.999999959797154	0.74766	0.722319	0.85440	0	0.633656	0.55848	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	4.03	0.46115	2.713000	0.46862	1.753000	0.28490	-0.180000	0.10397	1.000000	0.71638	1.000000	0.68203	0.924000	0.46004	0.1568:0.6905:0.0:0.1528	6.007	0.18780	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2727	522.42	224	chr10	125003036	.	C	A	522.42	.	AC=6;AF=0.273;AN=22;BaseQRankSum=-2.179;DP=2686;ExcessHet=2.0135;FS=10.865;InbreedingCoeff=-0.3614;MLEAC=8;MLEAF=0.364;MQ=56.82;MQRankSum=-4.942;QD=0.84;ReadPosRankSum=0.899;SOR=1.951	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:84,9:93:33:0|1:125003036_C_A:33,0,3497:125003036	5	0	6	8
chr10	125003062	125003062	T	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.A460T:p.T154S,CTBP2:NM_022802:exon3:c.A1876T:p.T626S,CTBP2:NM_001321013:exon4:c.A256T:p.T86S,CTBP2:NM_001083914:exon5:c.A256T:p.T86S,CTBP2:NM_001290214:exon5:c.A256T:p.T86S,CTBP2:NM_001290215:exon5:c.A256T:p.T86S,CTBP2:NM_001321012:exon5:c.A256T:p.T86S,CTBP2:NM_001321014:exon5:c.A256T:p.T86S,CTBP2:NM_001329:exon5:c.A256T:p.T86S	.	411	643	453	15	0	483	0.273036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.491	0.0483128458714	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs3198936	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.41637	T	0.522	0.36901	T	0.007	0.21357	B	0.008	0.27757	B	0.000000	0.84330	N	0.044612	0.996569	0.47043	D	1.065	0.27018	L	-1.93	0.84842	D	-3.0	0.65283	D	0.671	0.67908	-0.3304	0.74122	T	0.453	0.78662	T	10	0.56667346	0.65089	D	0.048313	0.63318	D	0.491	0.77783	0.57	0.69299	0.899189000732	0.89818	0.8017034108621458	0.80124	0.863764543004	0.69092	0.755492687225	0.75259	T	0.411071	0.76563	T	0.128098	0.67174	D	-0.0537727	0.66764	D	0.93286007642746	0.59920	D	0.675032	0.28342	T	0.4517838	0.64154	0.32242507	0.58182	0.4517838	0.64154	0.32242507	0.58182	-10.785	0.78466	D	.	.	0.259	0.49334	B	.;.;.;.;.;.	.;.;.;.;.;.	5.379924	0.90166	31	0.92993315479242666	0.22579	0.88414	0.48331	D	AEFDGBCI	0.628457	0.61053	D	-0.327467056762658	0.28109	1.547675	-0.174877914286987	0.32463	1.847172	0.999999921045429	0.74766	0.722319	0.85440	0	0.633656	0.55848	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	3.79	0.42757	4.998000	0.63670	6.076000	0.53302	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1374:0.0:0.0:0.8626	11.226	0.48116	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3182	1099.74	206	chr10	125003062	.	T	A	1099.74	.	AC=7;AF=0.318;AN=22;BaseQRankSum=-1.677;DP=2663;ExcessHet=2.9153;FS=12.857;InbreedingCoeff=-0.4087;MLEAC=10;MLEAF=0.455;MQ=56.84;MQRankSum=-5.566;QD=1.47;ReadPosRankSum=1.17;SOR=2.05	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,10:103:99:0|1:125003062_T_A:113,0,3835:125003062	4	0	7	8
chr10	125003065	125003065	T	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.A457T:p.I153F,CTBP2:NM_022802:exon3:c.A1873T:p.I625F,CTBP2:NM_001321013:exon4:c.A253T:p.I85F,CTBP2:NM_001083914:exon5:c.A253T:p.I85F,CTBP2:NM_001290214:exon5:c.A253T:p.I85F,CTBP2:NM_001290215:exon5:c.A253T:p.I85F,CTBP2:NM_001321012:exon5:c.A253T:p.I85F,CTBP2:NM_001321014:exon5:c.A253T:p.I85F,CTBP2:NM_001329:exon5:c.A253T:p.I85F	.	409	645	453	15	0	483	0.27242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.503	0.0700064426899	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs75794788	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.25	0.48855	T	0.964	0.55854	D	0.865	0.63213	P	0.000000	0.84330	N	0.045107	1	0.81001	D	1.03	0.25572	L	0.6	0.53731	T	-3.56	0.72471	D	0.881	0.88909	-0.6507	0.62684	T	0.246	0.61530	T	10	0.75938225	0.76228	D	0.070006	0.70884	D	0.503	0.78538	0.497	0.58678	0.79712420435	0.79523	0.952589839956618	0.95242	2.43300071254	0.97277	0.815389215946	0.84320	D	0.550178	0.84755	D	0.238164	0.77489	D	0.10433	0.77195	D	0.969830691814423	0.68732	D	0.789321	0.42944	T	0.9161864	0.92879	0.80227107	0.88412	0.9161864	0.92880	0.80227107	0.88413	-16.606	0.99306	D	.	.	0.965	0.88639	P	.;.;.;.;.;.	.;.;.;.;.;.	5.439656	0.90921	32	0.9869222858790262	0.44780	0.95041	0.63223	D	AEFDGBCI	0.932153	0.92207	D	0.318344020359099	0.57088	3.875162	0.3071809800043	0.55960	3.758966	0.999999998494387	0.74766	0.722319	0.85440	0	0.633656	0.55848	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	3.79	0.42757	7.961000	0.87447	6.071000	0.53257	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1374:0.0:0.0:0.8626	11.226	0.48116	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3182	1090.65	204	chr10	125003065	.	T	A	1090.65	.	AC=7;AF=0.318;AN=22;BaseQRankSum=-1.972;DP=2662;ExcessHet=2.9153;FS=12.857;InbreedingCoeff=-0.408;MLEAC=10;MLEAF=0.455;MQ=56.85;MQRankSum=-5.599;QD=1.45;ReadPosRankSum=1.2;SOR=2.05	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,10:103:99:0|1:125003062_T_A:113,0,3835:125003062	4	0	7	8
chr10	125766928	125766928	G	A	exonic	MMP21	.	nonsynonymous SNV	MMP21:NM_147191:exon7:c.C1444T:p.L482F	Heterotaxy, visceral, 7, autosomal, Autosomal recessive	443	1077	1	1	0	3	0.00139082	.	.	.	2345954	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.123	0.00718360827194	0.0002	.	0.0001	0	0.0003	0	0	0.0002	0	0	0.00011	17	154602	rs148927347	7.031e-05	7.114e-05	6.989e-05	7.074e-05	0.0012	5.892e-05	5.499e-05	0.0006	0.0004	3.041e-05	0.0002	0.0005	0	0	0.0012	5.955e-05	0.0002	0	7.886e-05	7.881e-05	8.993e-05	6.726e-05	0.0001	4.497e-05	3.512e-05	7.908e-05	5.994e-05	0	0	6.545e-05	0	0	0	0.0032	0.0001	0	0	0.118	0.28148	T	0.072	0.43344	T	0.973	0.57599	D	0.761	0.56482	P	0.007131	0.31583	N	0.296855	1	0.08975	N	2.36	0.67893	M	4.22	0.02640	T	-1.31	0.32791	N	0.092	0.07125	-1.0661	0.10293	T	0.018	0.07706	T	10	0.13284495	0.25285	T	0.007184	0.19034	T	0.123	0.34020	.	.	0.544260415555	0.54080	0.2851287177214182	0.28425	0.712895479657	0.61788	0.395226061344	0.24404	T	0.037597	0.24533	T	-0.47273	0.00817	T	-0.657141	0.08460	T	0.114311772975504	0.13865	T	0.642936	0.25461	T	0.082573496	0.19028	0.108969815	0.26256	0.082573496	0.19028	0.108969815	0.26256	-9.082	0.68222	D	0.465125307003192	0.54661	0.103	0.18456	B	.	.	3.951709	0.57900	23.9	0.99744108572231627	0.83703	0.83995	0.43083	D	AEFDBI	0.632490	0.61308	D	0.269990427520593	0.54635	3.628534	0.180836274481804	0.48798	3.090923	0.99916775904181	0.38622	0.522611	0.21652	0	0.54472	0.11627	0	0.54472	0.12158	0	0.613276	0.41899	0	.	.	5.95	4.07	0.46726	4.466000	0.59882	7.145000	0.57662	0.672000	0.70159	0.891000	0.31220	1.000000	0.68203	0.848000	0.40082	0.0929:0.2803:0.6268:0.0	7.761	0.28116	940	0.13648	Hemopexin-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1489.33	43	chr10	125766928	.	G	A	1489.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.807;DP=735;ExcessHet=0;FS=0.801;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.18;ReadPosRankSum=-0.064;SOR=0.572	GT:AD:DP:GQ:PL	0/1:50,55:105:99:1503,0,1397	18	0	1	0
chr10	128103278	128103278	C	G	exonic	MKI67	.	nonsynonymous SNV	MKI67:NM_001145966:exon12:c.G7482C:p.E2494D,MKI67:NM_002417:exon13:c.G8562C:p.E2854D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.00226310355017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.613e-06	0.0004	1.093e-05	8.279e-06	1.174e-05	5.58e-06	4.36e-06	6.55e-06	5.05e-06	0	0	0	0	0	0	1.174e-05	1.66e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	0.20078	T	0.119	0.36101	T	0.997	0.70673	D	0.939	0.67449	D	.	.	.	.	1	0.08975	N	2.195	0.61839	M	3.49	0.05071	T	-0.88	0.23808	N	0.094	0.16725	-1.0286	0.20908	T	0.021	0.08686	T	9	0.13874048	0.26384	T	0.002263	0.04314	T	0.115	0.32236	0.551	0.66716	0.384086055536	0.38021	0.023012059597842277	0.02253	0.253544675859	0.27924	0.240642219782	0.02849	T	0.008993	0.08212	T	-0.312787	0.07504	T	-0.687073	0.06561	T	0.265743708034814	0.23564	T	0.50475	0.15921	T	0.117704056	0.27745	0.10210266	0.24462	0.117704056	0.27744	0.10210266	0.24461	-6.721	0.51969	T	.	.	0.118	0.24260	B	.;.	.;.	0.238562	0.06189	2.640	0.97958759839123999	0.37158	0.05950	0.11907	N	AEFDGBCI	0.035951	0.04710	N	-0.653155426560856	0.17368	0.8931397	-0.910198625553295	0.11853	0.6063969	0.999999978715648	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.3	-4.34	0.03412	-0.632000	0.05587	-5.532000	0.01685	0.454000	0.21428	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.2747:0.1905:0.269:0.2659	0.177	0.00111	970	0.06235	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05556	387.58	157	chr10	128103278	.	C	G	387.58	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-4.684;DP=2464;ExcessHet=0.119;FS=206.874;InbreedingCoeff=-0.0704;MLEAC=2;MLEAF=0.056;MQ=60;MQRankSum=0;QD=1.14;ReadPosRankSum=3.19;SOR=8.189	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:154,26:180:99:0|1:128103278_C_G:114,0,6049:128103278	16	0	2	1
chr10	128103280	128103280	C	G	exonic	MKI67	.	nonsynonymous SNV	MKI67:NM_001145966:exon12:c.G7480C:p.E2494Q,MKI67:NM_002417:exon13:c.G8560C:p.E2854Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.00403197585609	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.485e-06	0.0003	2.729e-06	8.268e-06	7.214e-06	2.36e-06	1.71e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.214e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.38863	T	0.177	0.31730	T	0.998	0.73220	D	0.96	0.70309	D	.	.	.	.	1	0.08975	N	2.195	0.61839	M	3.45	0.05311	T	-0.8	0.22078	N	0.109	0.19459	-1.0547	0.13119	T	0.038	0.16505	T	9	0.17886433	0.32993	T	0.004032	0.09587	T	0.052	0.14661	0.541	0.65304	0.518970300747	0.51540	0.04773937039326191	0.04716	0.283620578612	0.30797	0.235243186355	0.02379	T	0.011953	0.10589	T	-0.3115	0.07616	T	-0.685224	0.06669	T	0.250668425890041	0.22903	T	0.577942	0.20808	T	0.13167799	0.30686	0.09273483	0.21870	0.13167799	0.30685	0.09273483	0.21869	-8.247	0.62741	D	.	.	0.149	0.33039	B	.;.	.;.	0.759877	0.11298	7.920	0.98886276083847624	0.47912	0.20083	0.20908	N	AEFDGBCI	0.033550	0.04004	N	-0.293471082601323	0.29398	1.630002	-0.540287322695226	0.21065	1.137768	0.999999740880393	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.21	1.02	0.19102	-0.203000	0.09440	-1.074000	0.06411	0.454000	0.21428	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.1866:0.5896:0.0:0.2238	4.010	0.09108	970	0.06235	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.0625	389.24	157	chr10	128103280	.	C	G	389.24	.	AC=2;AF=0.063;AN=32;BaseQRankSum=-4.758;DP=2441;ExcessHet=0.119;FS=206.874;InbreedingCoeff=-0.1015;MLEAC=2;MLEAF=0.063;MQ=60;MQRankSum=0;QD=1.14;ReadPosRankSum=3.16;SOR=8.189	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:154,26:180:99:0|1:128103278_C_G:114,0,6049:128103278	14	0	2	3
chr10	128103281	128103281	C	G	exonic	MKI67	.	nonsynonymous SNV	MKI67:NM_001145966:exon12:c.G7479C:p.E2493D,MKI67:NM_002417:exon13:c.G8559C:p.E2853D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.00413029876425	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.599e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.31235	T	0.445	0.13140	T	1.0	0.90584	D	0.998	0.88582	D	.	.	.	.	1	0.08975	N	1.795	0.47270	L	3.72	0.04014	T	-0.57	0.17210	N	0.139	0.20528	-1.0070	0.27850	T	0.023	0.09832	T	9	0.17917964	0.33039	T	0.00413	0.09900	T	0.087	0.25287	0.554	0.67133	0.342168650903	0.33825	0.036519337438074756	0.03598	0.227472622474	0.25299	0.246916860342	0.03450	T	0.009336	0.08507	T	-0.289186	0.09718	T	-0.653172	0.08733	T	0.232997477054596	0.22093	T	0.413959	0.10802	T	0.062381484	0.13023	0.07715427	0.17160	0.062381484	0.13023	0.07715427	0.17160	-7.036	0.54296	T	.	.	0.173	0.37969	B	.;.	.;.	-0.254554	0.02823	0.391	0.97478973749574904	0.34178	0.08471	0.14396	N	AEFDGBCI	0.035167	0.04481	N	-0.763170779599195	0.14277	0.7099313	-1.00746602192106	0.09620	0.4796704	0.999999819180609	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.21	-2.02	0.06981	-1.009000	0.03770	-7.411000	0.01162	-1.323000	0.01224	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.3205:0.1775:0.502	4.172	0.09795	970	0.06235	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	386.89	157	chr10	128103281	.	C	G	386.89	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-5.495;DP=2446;ExcessHet=0.119;FS=206.874;InbreedingCoeff=-0.0578;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=1.13;ReadPosRankSum=3.08;SOR=8.189	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:154,26:180:99:0|1:128103278_C_G:114,0,6049:128103278	17	0	2	0
chr10	132342260	132342260	C	T	exonic	LRRC27	.	nonsynonymous SNV	LRRC27:NM_001309474:exon3:c.C8T:p.P3L,LRRC27:NM_001143757:exon4:c.C389T:p.P130L,LRRC27:NM_001143758:exon4:c.C389T:p.P130L,LRRC27:NM_001143759:exon4:c.C389T:p.P130L,LRRC27:NM_030626:exon4:c.C389T:p.P130L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.407	.	.	0.00339457	0.0027	0	0.0006	0	0	0	0.0075	0.0087	0.0008667	134	154602	rs552504940	0.0005	0.0006	0.0003	0.0008	0.0089	0.0005	0.0005	0.0084	0.0082	0	0	0	2.674e-05	0	0.0002	1.025e-05	0.0007	0.0089	0.0004	0.0004	0.0003	0.0006	0.0125	0.0003	0.0003	0.0099	0.0090	0	0	0	0	0	0	0	1.47e-05	0	0.0125	0.0	0.91255	D	0.007	0.69154	D	1.0	0.90584	D	0.999	0.97372	D	0.000932	0.41028	D	0.000000	0.99986	0.81001	D	1.905	0.50856	L	1.35	0.60734	T	-9.19	0.98237	D	0.788	0.86618	0.458	0.89943	D	0.682	0.89025	D	10	0.014656842	0.00308	T	.	.	.	0.407	0.71946	.	.	0.732832767634	0.73045	0.5917787117048532	0.59107	0.382340480175	0.39563	0.650352478027	0.60035	T	0.333732	0.70355	T	-0.152478	0.27923	T	0.0133261	0.71197	D	0.168352643941885	0.18468	T	0.944706	0.80311	D	0.7776035	0.82507	0.60362154	0.76964	0.7776035	0.82509	0.60362154	0.76965	-14.429	0.94723	D	.	.	0.910	0.83439	P	.;.;.;.;.	.;.;.;.;.	5.137801	0.86009	28.8	0.99841868533710865	0.92229	0.91319	0.53294	D	AEFBI	0.508977	0.53864	D	0.719223491739272	0.80892	7.396276	0.675732739274994	0.80542	7.321623	0.999844655312316	0.43971	0.651	0.46895	0	0.588066	0.40923	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	4.76	4.76	0.60189	3.911000	0.56091	7.329000	0.58196	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	13.990	0.63874	993	0.01300	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001010	0.000000	0.002725	0.000000	0.000000	0.000000	0.000000	0.003817	0.02632	797.33	31	chr10	132342260	.	C	T	797.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.41;DP=683;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.07;ReadPosRankSum=0.079;SOR=0.631	GT:AD:DP:GQ:PL	0/1:30,31:61:99:811,0,721	18	0	1	0
chr10	133389673	133389673	G	A	exonic	PAOX	.	nonsynonymous SNV	PAOX:NM_152911:exon6:c.G1318A:p.V440M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.618	0.420971691114	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1432957559	2.74e-06	2.736e-06	1.363e-06	4.131e-06	3.599e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.599e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.094	0.39645	T	0.994	0.66517	D	0.831	0.59664	P	0.000525	0.43581	D	0.193982	0.931718	0.81001	D	.	.	.	-3.1	0.92667	D	-1.49	0.36385	N	0.514	0.54496	0.646	0.92488	D	0.797	0.93135	D	10	0.6557029	0.69861	D	0.420972	0.93792	D	0.618	0.85144	0.556	0.67409	0.899491837321	0.89849	0.5731453866222057	0.57242	0.700501834841	0.61099	0.819872617722	0.85008	D	.	.	.	0.134731	0.67820	D	-0.0442447	0.67414	D	0.84324985742569	0.49594	D	0.909409	0.67928	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.283	0.51566	B	.	.	4.226949	0.63974	24.6	0.99869333206504052	0.94726	0.81325	0.40752	D	AEFDGBHI	0.200855	0.32755	N	0.482813450490558	0.66088	4.904944	0.449493017833526	0.64683	4.729335	0.999999997499933	0.74766	0.700653	0.57754	0	0.52208	0.09955	0	0.717052	0.78885	0	0.550183	0.17644	0	.	.	5.18	4.28	0.50183	0.906000	0.28140	5.865000	0.50473	0.676000	0.76740	0.001000	0.13787	1.000000	0.68203	0.808000	0.38083	0.0855:0.0:0.9145:0.0	11.795	0.51365	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	408.33	34	chr10	133389673	.	G	A	408.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0;DP=670;ExcessHet=0;FS=1.202;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.96;ReadPosRankSum=-0.342;SOR=0.481	GT:AD:DP:GQ:PL	0/1:23,18:41:99:422,0,571	18	0	1	0
chr11	381754	381754	G	A	exonic	B4GALNT4	.	nonsynonymous SNV	B4GALNT4:NM_178537:exon20:c.G3082A:p.V1028I	.	425	1085	11	1	0	13	0.00595511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.0219798660652	0.0030	0.00219649	0.0012	0.0090	0.0003	0	0	0.0006	0.0013	0.0007	0.0010479	162	154602	rs75988367	0.0007	0.0007	0.0008	0.0007	0.0088	0.0007	0.0007	0.0079	0.0076	0.0088	0.0009	4.002e-05	2.664e-05	1.93e-05	0.0051	0.0005	0.0011	0.0005	0.0029	0.0029	0.0026	0.0032	0.0085	0.0027	0.0026	0.0078	0.0075	0.0085	0	0.0023	0	0.0002	0	0	0.0006	0.0052	0.0002	0.293	0.14843	T	0.126	0.35205	T	0.122	0.26746	B	0.094	0.30180	B	0.257149	0.15389	N	0.648009	1	0.08975	N	1.1	0.28011	L	1.35	0.34648	T	-0.46	0.14978	N	0.065	0.03726	-1.0697	0.09479	T	0.035	0.15291	T	10	0.0053814948	0.00118	T	0.02198	0.44819	T	0.027	0.05988	.	.	0.20808081866	0.20439	0.5216965126755625	0.52092	0.804745380727	0.66415	0.398209512234	0.24819	T	0.002254	0.01652	T	-0.672709	0.00053	T	-0.732112	0.04232	T	0.00295371072879918	0.00031	T	0.59944	0.22338	T	0.032634176	0.03325	0.026427016	0.00731	0.032634176	0.03325	0.026427016	0.00731	-6.898	0.53284	T	.	.	0.088	0.11654	B	.	.	0.030496	0.04496	1.204	0.91958973615444606	0.21288	0.00906	0.03544	N	AEFDBI	0.035524	0.04588	N	-1.22271384835504	0.04672	0.2113558	-1.3812405962459	0.03452	0.161047	0.945067968469827	0.27644	0.695654	0.57023	0	0.626922	0.53725	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	3.92	-7.02	0.01433	-0.968000	0.03928	-1.810000	0.04685	-0.214000	0.08267	0.000000	0.06391	0.000000	0.08366	0.114000	0.18915	0.6304:0.0934:0.1825:0.0937	5.397	0.15577	889	0.27310	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005040	0.005051	0.005435	0.008772	0.000000	0.008621	0.000000	0.011364	0.02632	1777.33	42	chr11	381754	.	G	A	1777.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.925;DP=797;ExcessHet=0;FS=0.636;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.26;ReadPosRankSum=-0.956;SOR=0.627	GT:AD:DP:GQ:PL	0/1:61,73:134:99:1791,0,1351	18	0	1	0
chr11	1017067	1017067	C	G	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.G5734C:p.A1912P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.00344875788654	.	.	0.0002	0	0	0	0	0	0	0.0015	0.0001746	27	154602	rs745508971	6.161e-06	0.0001	4.086e-06	8.257e-06	9.31e-05	2.9e-06	2.1e-06	4.593e-05	3.283e-05	0	0	0	0	0	0	0	1.658e-05	9.31e-05	6.561e-06	1.968e-05	0	1.342e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.111	0.29029	T	0.164	0.31026	T	0.998	0.73220	D	0.979	0.74454	D	.	.	.	.	1	0.08975	N	2.305	0.65957	M	1.99	0.21666	T	-0.04	0.07590	N	0.127	0.12055	-1.0351	0.18825	T	0.078	0.31072	T	9	0.05095601	0.04904	T	0.003449	0.07786	T	0.038	0.09825	.	.	0.317958651998	0.31400	0.1403540389741758	0.13958	0.52376291053	0.50081	0.2020727247	0.00519	T	0.052306	0.29124	T	-0.246366	0.14547	T	-0.591664	0.13523	T	0.175783678889275	0.18965	T	.	.	.	0.065667436	0.14057	0.064176686	0.12823	0.065667436	0.14057	0.064176686	0.12823	-8.008	0.61125	D	.	.	0.106	0.19639	B	.	.	1.265041	0.16631	12.66	0.98450357549072254	0.41620	0.03388	0.08496	N	AEFDGBCI	0.101332	0.20354	N	-0.49351548538304	0.22293	1.189335	-0.776535812651239	0.15071	0.7907839	0.999999725967586	0.74766	0.69289	0.55638	0	0.008208	0.00037	3	0.517114	0.09559	2	0.264475	0.05362	3	.	.	3.01	-0.721	0.10625	-2.180000	0.01343	-10.949000	0.00650	0.545000	0.25583	0.000000	0.06391	0.000000	0.08366	0.035000	0.13729	0.0:0.4409:0.2368:0.3223	2.948	0.05494	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	.	.	.	.	.	.	.	.	0.02632	880.33	627	chr11	1017067	.	C	G	880.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.561;DP=12440;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.53;MQRankSum=3.78;QD=1.3;ReadPosRankSum=0.483;SOR=0.638	GT:AD:DP:GQ:PL	0/1:608,69:677:99:894,0,24249	18	0	1	0
chr11	1017498	1017498	C	0	exonic	MUC6	.	.	.	.	7	56	24	0	139	163	0.176471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	18376.8	571	chr11	1017498	.	C	*	18376.8	.	AC=9;AF=0.25;AN=36;BaseQRankSum=-0.973;DP=12851;ExcessHet=31.086;FS=1.119;InbreedingCoeff=-0.8537;MLEAC=8;MLEAF=0.222;MQ=55.62;MQRankSum=-18.61;QD=1.81;ReadPosRankSum=5.2;SOR=0.599	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:477,130:776:99:.:.:4036,0,19915:.	9	0	9	1
chr11	1018290	1018290	G	A	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.C4511T:p.P1504L	.	414	746	107	2	253	364	0.0692452	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.00130114034182	.	.	0.0003	0.0006	0.0002	0.0001	0.0005	0.0003	0.0011	0	1.94e-05	3	154602	rs776891354	1.107e-05	3.01e-05	1.651e-05	5.562e-06	2.261e-05	6.55e-06	5.3e-06	8.17e-06	6.48e-06	0	2.261e-05	0	0	0	0	1.361e-05	0	0	0.0001	0.0098	0.0001	9.374e-05	0.0007	5.246e-05	3.934e-05	0.0001	5.226e-05	0.0001	0	0	0	0.0007	0	0	9.554e-05	0	0	0.087	0.32453	T	0.452	0.12884	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.805	0.20218	L	2.32	0.16640	T	-0.07	0.08033	N	0.067	0.03956	-1.0134	0.25848	T	0.014	0.05465	T	9	0.022066832	0.00542	T	0.001301	0.01809	T	0.004	0.00165	.	.	0.141422826196	0.13715	0.17699347360380507	0.17618	0.090681263109	0.10232	0.182567775249	0.00120	T	0.011815	0.10487	T	-0.418061	0.01760	T	-0.838292	0.01125	T	0.0714186060218739	0.08849	T	.	.	.	0.023426026	0.01081	0.02954413	0.01305	0.023426026	0.01081	0.02954413	0.01304	-3.396	0.15003	T	.	.	0.071	0.04041	B	.	.	-1.051810	0.00700	0.020	0.59025517677381145	0.06128	0.00427	0.02100	N	AEFDGBI	0.028602	0.02550	N	-2.28884873487817	0.00048	0.002069904	-2.37477325509698	0.00045	0.001973028	0.999941380871367	0.47345	0.69289	0.55638	0	0.550933	0.16991	0	0.517114	0.09559	2	0.508809	0.08732	0	.	.	2.41	-4.82	0.02938	-5.543000	0.00137	-20.000000	0.00162	-5.324000	0.00012	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3114:0.1979:0.3276:0.1631	0.642	0.00759	825	0.40060	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3684	8543.31	218	chr11	1018290	.	G	A	8543.31	.	AC=14;AF=0.368;AN=38;BaseQRankSum=4.18;DP=5186;ExcessHet=31.086;FS=18.111;InbreedingCoeff=-0.8095;MLEAC=14;MLEAF=0.368;MQ=55.27;MQRankSum=-8.441;QD=1.76;ReadPosRankSum=1.38;SOR=1.969	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:203,21:242:99:.:.:271,0,8461:.	5	0	14	0
chr11	1019434	1019434	T	C	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon30:c.A3871G:p.T1291A	.	413	1103	6	0	0	6	0.00271248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	.	.	0.00299521	0.0024	0.0001	8.64e-05	0	0	0	0	0.0176	0.0020181	312	154602	rs552237217	0.0010	0.0010	0.0005	0.0014	0.0152	0.0009	0.0009	0.0145	0.0142	2.987e-05	8.944e-05	0	0	0	0.0035	8.094e-06	0.0011	0.0152	0.0005	0.0005	0.0002	0.0007	0.0142	0.0004	0.0003	0.0115	0.0105	2.413e-05	0	0	0	0	0	0	0	0	0.0142	0.166	0.23183	T	0.103	0.38305	T	0.478	0.36706	P	0.091	0.29943	B	.	.	.	.	1	0.08975	N	0.695	0.17993	N	2.13	0.19588	T	-0.88	0.23808	N	0.172	0.18376	-1.0061	0.28126	T	0.026	0.11087	T	9	0.003770113	0.00070	T	.	.	.	0.017	0.02790	.	.	0.193865811164	0.18958	0.2742888617146596	0.27341	0.0870890845527	0.09826	0.308344095945	0.11656	T	0.028981	0.20870	T	-0.597835	0.00150	T	-0.618552	0.11299	T	0.0163589177686501	0.00405	T	.	.	.	0.08056922	0.18467	0.06740125	0.13940	0.08056922	0.18467	0.06740125	0.13940	-5.299	0.39933	T	.	.	0.088	0.11461	B	.	.	1.984561	0.25210	16.68	0.52750639023601198	0.04807	0.04948	0.10709	N	AEFBI	0.091144	0.18465	N	-0.883063678494599	0.11245	0.5416376	-0.969931234853808	0.10464	0.5271965	0.0742994557616752	0.15661	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	2.91	0.021	0.13448	0.554000	0.23113	-0.463000	0.09027	0.502000	0.22824	0.001000	0.13787	0.000000	0.08366	0.069000	0.16583	0.3608:0.0:0.0:0.6392	6.957	0.23756	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	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	589.33	46	chr11	1019434	.	T	C	589.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.09;DP=790;ExcessHet=0;FS=3.501;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.21;ReadPosRankSum=0.454;SOR=0.508	GT:AD:DP:GQ:PL	0/1:39,25:64:99:603,0,997	18	0	1	0
chr11	1029077	1029077	G	C	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon11:c.C1349G:p.S450C	.	408	1108	6	0	0	6	0.00270027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.264	.	.	0.00219649	0.0020	0.0001	8.929e-05	0	0	0	0	0.0140	0.0015847	245	154602	rs558664850	0.0008	0.0008	0.0004	0.0012	0.0126	0.0008	0.0007	0.0120	0.0118	2.987e-05	4.474e-05	0	0	0	0.0028	8.095e-06	0.0008	0.0126	0.0004	0.0004	0.0002	0.0006	0.0114	0.0003	0.0003	0.0090	0.0081	2.405e-05	0	0	0	0	0	0	0	0	0.0114	0.553	0.06523	T	0.362	0.16865	T	0.409	0.35027	B	0.298	0.40966	B	.	.	.	.	0.98288	0.24930	N	0.095	0.08423	N	0.54	0.54911	T	3.14	0.00122	N	0.488	0.52208	-1.0754	0.08266	T	0.074	0.29770	T	9	0.013338327	0.00283	T	.	.	.	0.264	0.57741	.	.	0.372087925617	0.36815	0.8702287531322562	0.86988	0.086098281219	0.09729	0.411925256252	0.26723	T	0.017627	0.14352	T	-0.362584	0.03986	T	-0.282572	0.46539	T	0.0638209455831107	0.07756	T	.	.	.	0.22850384	0.45571	0.24201338	0.49612	0.22850384	0.45571	0.24201338	0.49611	-10.164	0.74887	D	.	.	0.257	0.49137	B	.	.	3.612613	0.51079	23.0	0.9327133905018189	0.22969	0.56082	0.30026	D	AEFBI	0.082776	0.16765	N	-0.535450252135172	0.20942	1.10776	-0.404995204884795	0.24849	1.363136	0.740562275698917	0.23205	0.403107	0.06075	0	0.514364	0.08380	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.31	4.31	0.50718	5.907000	0.69646	8.338000	0.76990	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.219000	0.22435	0.0:0.0:1.0:0.0	15.326	0.73878	830	0.39242	von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001362	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1093.33	36	chr11	1029077	.	G	C	1093.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.918;DP=732;ExcessHet=0;FS=0.782;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.76;ReadPosRankSum=0.027;SOR=0.8	GT:AD:DP:GQ:PL	0/1:54,39:93:99:1107,0,1581	18	0	1	0
chr11	1032000	1032000	C	T	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon3:c.G169A:p.D57N	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.646	0.0924728167544	.	.	8.366e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs773621605	6.843e-06	6.84e-06	9.532e-06	4.127e-06	0.0003	3.46e-06	2.52e-06	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	6.296e-06	0	1.159e-05	1.315e-05	1.314e-05	1.285e-05	1.347e-05	0.0002	2.19e-06	8.2e-07	.	.	0	0	0	0	0.0002	0	0	1.47e-05	0	0	0.04	0.65419	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.997093	0.43626	D	3.635	0.94052	H	-1.07	0.76948	T	-4.56	0.80595	D	0.761	0.75927	0.695	0.93108	D	0.730	0.90773	D	9	0.98085487	0.98079	D	0.092473	0.75897	D	0.646	0.86586	0.93	0.98900	0.902882498849	0.90191	0.8370578427239349	0.83665	0.08651989537	0.09766	0.550150930882	0.45878	T	0.207896	0.56766	T	-0.0766593	0.40256	T	-0.178764	0.56637	T	0.982087135314941	0.74284	D	.	.	.	0.3174715	0.54425	0.31340194	0.57338	0.3174715	0.54425	0.31340194	0.57337	-9.422	0.70373	D	.	.	0.647	0.70791	P	.;.	.;.	4.405091	0.68098	25.2	0.99730674217651805	0.82761	0.97699	0.76499	D	AEFDBI	0.793617	0.72157	D	0.755336820528908	0.83251	7.968937	0.607802704764782	0.75506	6.322491	0.999997334031741	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.03	4.03	0.46115	6.703000	0.74456	7.478000	0.59226	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.398000	0.26737	0.0:1.0:0.0:0.0	16.141	0.81340	835	0.38313	von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain;von Willebrand factor, type D domain|von Willebrand factor, type D domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1545.33	33	chr11	1032000	.	C	T	1545.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.574;DP=757;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=0.282;SOR=0.633	GT:AD:DP:GQ:PL	0/1:56,64:120:99:1559,0,1393	18	0	1	0
chr11	1096155	1096155	C	0	exonic	MUC2	.	.	.	.	456	828	3	1	234	239	0.00301023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2647	1368.84	440	chr11	1096155	.	C	*	1368.84	.	AC=9;AF=0.265;AN=34;BaseQRankSum=2.27;DP=8782;ExcessHet=6.9875;FS=1.819;InbreedingCoeff=-0.4074;MLEAC=10;MLEAF=0.294;MQ=55.63;MQRankSum=-1.462;QD=0.48;ReadPosRankSum=-6.177;SOR=0.831	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:285,78:363:99:0|1:1096143_TGACACCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC_T:1654,0,10956:1096143	8	0	9	2
chr11	1096168	1096168	G	0	exonic	MUC2	.	.	.	.	1	110	14	0	101	115	0.0598291	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	2015.37	440	chr11	1096168	.	G	*	2015.37	.	AC=10;AF=0.263;AN=38;BaseQRankSum=1.61;DP=9016;ExcessHet=8.9063;FS=1.149;InbreedingCoeff=-0.4074;MLEAC=10;MLEAF=0.263;MQ=55.65;MQRankSum=2.2;QD=0.58;ReadPosRankSum=-1.711;SOR=0.808	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:285,78:363:99:0|1:1096143_TGACACCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC_T:1654,0,10956:1096143	9	0	10	0
chr11	1096170	1096212	TGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	0	exonic	MUC2	.	.	.	.	1	116	21	0	88	109	0.083004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	685.62	440	chr11	1096170	.	TGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	*	685.62	.	AC=9;AF=0.25;AN=36;BaseQRankSum=2.47;DP=8861;ExcessHet=6.9875;FS=1.838;InbreedingCoeff=-0.3818;MLEAC=9;MLEAF=0.25;MQ=57.05;MQRankSum=-2.059;QD=0.2;ReadPosRankSum=1.49;SOR=0.838	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:285,78:363:99:0|1:1096143_TGACACCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC_T:1654,0,10956:1096143	9	0	9	1
chr11	1096180	1096180	C	0	exonic	MUC2	.	.	.	.	532	749	62	4	175	245	0.0446429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	5030.81	440	chr11	1096180	.	C	*	5030.81	.	AC=8;AF=0.333;AN=24;BaseQRankSum=0.917;DP=8171;ExcessHet=6.9875;FS=1.141;InbreedingCoeff=-0.551;MLEAC=10;MLEAF=0.417;MQ=55.72;MQRankSum=-4.128;QD=1.58;ReadPosRankSum=0.461;SOR=0.796	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:285,78:363:99:0|1:1096143_TGACACCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC_T:1654,0,10956:1096143	4	0	8	7
chr11	1096181	1096181	C	0	exonic	MUC2	.	.	.	.	514	824	9	0	175	184	0.0054315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	1705.26	440	chr11	1096181	.	C	*	1705.26	.	AC=6;AF=0.214;AN=28;BaseQRankSum=0.922;DP=7954;ExcessHet=2.9153;FS=1.896;InbreedingCoeff=-0.3333;MLEAC=7;MLEAF=0.25;MQ=55.19;MQRankSum=-3.126;QD=0.71;ReadPosRankSum=1.32;SOR=0.892	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:285,78:363:99:0|1:1096143_TGACACCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC_T:1654,0,10956:1096143	8	0	6	5
chr11	1096182	1096182	C	0	exonic	MUC2	.	.	.	.	522	823	174	0	3	177	0.0956044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	1918.01	440	chr11	1096182	.	C	*	1918.01	.	AC=6;AF=0.2;AN=30;BaseQRankSum=-3.937;DP=7957;ExcessHet=2.9153;FS=1.867;InbreedingCoeff=-0.3103;MLEAC=7;MLEAF=0.233;MQ=56.52;MQRankSum=2.34;QD=0.79;ReadPosRankSum=1.24;SOR=0.868	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:285,78:363:99:0|1:1096143_TGACACCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC_T:1654,0,10956:1096143	9	0	6	4
chr11	1096199	1096199	C	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1364	1971.24	440	chr11	1096199	.	C	*	1971.24	.	AC=3;AF=0.136;AN=22;BaseQRankSum=-0.773;DP=7095;ExcessHet=0.8031;FS=2.638;InbreedingCoeff=-0.2667;MLEAC=4;MLEAF=0.182;MQ=56.71;MQRankSum=2.61;QD=1.37;ReadPosRankSum=1.44;SOR=0.886	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:266,78:346:99:1|0:1096143_TGACACCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC_T:2415,0,10389:1096143	8	0	3	8
chr11	1096203	1096203	C	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	1903.63	440	chr11	1096203	.	C	*	1903.63	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.724;DP=7076;ExcessHet=0.8031;FS=2.638;InbreedingCoeff=-0.2881;MLEAC=5;MLEAF=0.25;MQ=56.72;MQRankSum=2.71;QD=1.33;ReadPosRankSum=1.05;SOR=0.878	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:262,78:342:99:1|0:1096143_TGACACCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC_T:2424,0,10366:1096143	7	0	3	9
chr11	1096204	1096204	C	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	1953.89	440	chr11	1096204	.	C	*	1953.89	.	AC=3;AF=0.125;AN=24;BaseQRankSum=-0.954;DP=7094;ExcessHet=0.8031;FS=1.883;InbreedingCoeff=-0.2459;MLEAC=4;MLEAF=0.167;MQ=56.69;MQRankSum=2.72;QD=1.36;ReadPosRankSum=1.26;SOR=0.87	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:261,78:341:99:1|0:1096143_TGACACCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC_T:2427,0,10395:1096143	9	0	3	7
chr11	1096205	1096205	C	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	1953.89	440	chr11	1096205	.	C	*	1953.89	.	AC=3;AF=0.125;AN=24;BaseQRankSum=-0.887;DP=7089;ExcessHet=0.8031;FS=1.883;InbreedingCoeff=-0.2459;MLEAC=4;MLEAF=0.167;MQ=56.78;MQRankSum=2.75;QD=1.37;ReadPosRankSum=1.2;SOR=0.858	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:257,78:337:99:1|0:1096143_TGACACCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC_T:2438,0,10373:1096143	9	0	3	7
chr11	1096211	1096211	A	0	exonic	MUC2	.	.	.	.	606	732	15	0	169	184	0.010142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375	3229.97	460	chr11	1096211	.	A	*	3229.97	.	AC=6;AF=0.375;AN=16;BaseQRankSum=-0.565;DP=7074;ExcessHet=4.3158;FS=1.16;InbreedingCoeff=-0.551;MLEAC=9;MLEAF=0.563;MQ=57.59;MQRankSum=-3.357;QD=1.21;ReadPosRankSum=0.115;SOR=0.796	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:246,78:326:99:1|0:1096143_TGACACCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC_T:2477,0,9844:1096143	2	0	6	11
chr11	1096743	1096743	T	C	exonic	MUC2	.	unknown	UNKNOWN	.	924	586	6	0	6	12	0.00509338	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0025	0.0052	0.0026	0.0024	0.0059	0.0023	0.0023	0.0041	0.0038	0.0056	0.0031	0.0026	0.0059	0.0052	0.0046	0.0020	0.0024	0.0050	0	0.0010	0	0	.	0	0	.	.	0	.	0	0	0	0	.	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	164.8	27	chr11	1096743	.	T	C	164.8	.	AC=3;AF=0.167;AN=18;BaseQRankSum=2.11;DP=702;ExcessHet=2.9231;FS=42.244;InbreedingCoeff=-0.1675;MLEAC=5;MLEAF=0.278;MQ=41.83;MQRankSum=-1.147;QD=0.86;ReadPosRankSum=-1.775;SOR=2.312	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:11,3:14:93:0|1:1096735_G_A:93,0,246:1096735	6	0	3	10
chr11	1097805	1097805	C	A	exonic	MUC2	.	unknown	UNKNOWN	.	683	827	12	0	0	12	0.00720288	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.083e-05	0.0006	4.152e-05	2.074e-05	9.699e-05	2.144e-05	1.822e-05	2.385e-05	1.288e-05	9.699e-05	9e-05	9.62e-05	6.337e-05	0	0	2.691e-05	0	1.488e-05	4.208e-05	0.0002	4.311e-05	4.11e-05	0.0002	6.98e-06	2.61e-06	3.316e-05	1.363e-05	0.0002	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.0625	54.14	107	chr11	1097805	.	C	A	54.14	.	AC=2;AF=0.063;AN=32;BaseQRankSum=-1.773;DP=1748;ExcessHet=0.119;FS=23.929;InbreedingCoeff=-0.0967;MLEAC=1;MLEAF=0.031;MQ=34.48;MQRankSum=0.096;QD=0.36;ReadPosRankSum=0.645;SOR=3.321	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:54,4:58:5:0|1:1097750_G_A:5,0,2252:1097750	14	0	2	3
chr11	1101885	1101885	C	T	exonic	MUC2	.	unknown	UNKNOWN	.	250	1271	1	0	0	1	0.000393236	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.0196272970345	0.0002	.	0.0001	0	0.0001	0	0	0.0002	0	0.0001	0.0001035	16	154602	rs41368246	7.004e-05	7.73e-05	6.282e-05	7.733e-05	5.987e-05	5.868e-05	5.477e-05	3.003e-05	2.675e-05	5.987e-05	2.249e-05	0.0017	0	0	0	3.963e-05	8.3e-05	5.834e-05	7.883e-05	7.88e-05	8.99e-05	6.724e-05	0.0002	4.496e-05	3.512e-05	1.972e-05	1.124e-05	2.412e-05	0	0	0.0014	0	9.414e-05	0	5.879e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1488.33	40	chr11	1101885	.	C	T	1488.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.221;DP=799;ExcessHet=0;FS=8.116;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.36;ReadPosRankSum=-0.387;SOR=1.341	GT:AD:DP:GQ:PL	0/1:69,62:131:99:1502,0,1638	18	0	1	0
chr11	1182343	1182343	C	T	exonic	MUC5AC	.	nonsynonymous SNV	MUC5AC:NM_001304359:exon31:c.C4198T:p.R1400W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1445799865	3.249e-05	2.226e-05	4.117e-05	2.404e-05	0.0001	1.596e-05	1.108e-05	2.1e-06	7.9e-07	0	0.0001	0	0	0.0001	0	1.266e-05	0.0001	0	4.595e-05	4.593e-05	6.423e-05	2.685e-05	0.0004	2.107e-05	1.526e-05	7.29e-05	3.029e-05	0	0	0	0	0.0004	0.0002	0	1.47e-05	0	0.0004	.	.	.	0.045	0.49390	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	0.12341	.	.	.	.	.	.	.	0.11048278	0.20653	T	.	.	.	.	.	.	.	.	.	0.34860281700831824	0.34774	.	.	.	.	.	0.190041	0.54446	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.054	0.46728	T	.	.	0.086	0.10739	B	.	.	2.400276	0.30838	18.56	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.400000	0.07302	-0.798000	0.07386	0.535000	0.24933	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	.	.	.	.	.	WxxW domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1584.33	91	chr11	1182343	.	C	T	1584.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.04;DP=1928;ExcessHet=0;FS=0.685;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=0.261;SOR=0.818	GT:AD:DP:GQ:PL	0/1:63,60:123:99:1598,0,1535	18	0	1	0
chr11	1630383	1630413	TTACTGCTGCCAGTCCAGCTGCTGTAAGCCC	0	exonic	KRTAP5-5	.	.	.	.	532	195	381	185	229	980	0.658195	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3421	57352.6	206	chr11	1630383	.	TTACTGCTGCCAGTCCAGCTGCTGTAAGCCC	*	57352.6	.	AC=13;AF=0.342;AN=38;BaseQRankSum=1.38;DP=3777;ExcessHet=0.1504;FS=1.658;InbreedingCoeff=0.2083;MLEAC=13;MLEAF=0.342;MQ=58.69;MQRankSum=-5.209;QD=18.99;ReadPosRankSum=0.122;SOR=0.924	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,67:142:99:.:.:5432,2629,3285:.	8	2	9	0
chr11	1956322	1956322	G	A	exonic	MRPL23	.	nonsynonymous SNV	MRPL23:NM_021134:exon5:c.G364A:p.A122T	.	428	679	340	75	0	490	0.265152	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	.	0.1153	0.142772	0.1731	0.0428	0.2377	0.1502	0.1645	0.1581	0.1944	0.2832	0.166764	25782	154602	rs12812	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.575	0.06086	T	0.592	0.08161	T	0.001	0.07471	B	0.0	0.01387	B	.	.	.	.	1	0.19781	P	0	0.06538	N	2.52	0.14160	T	-0.23	0.10656	N	0.018	0.00279	-0.9925	0.31959	T	0.000	0.00011	T	8	0.0044080913	0.00090	T	.	.	.	0.008	0.00669	.	.	.	.	0.3396820372802284	0.33881	0.158737186331	0.17918	0.323130786419	0.13895	T	3.62E-4	0.00107	T	-0.856647	0.00002	T	-0.85947	0.00848	T	0.000831064513770241	0.00008	T	0.40486	0.10377	T	0.021729477	0.00791	0.044156004	0.05659	0.021729477	0.00791	0.044156004	0.05658	-3.8	0.20805	T	.	.	0.067	0.02428	B	.;.	.;.	-0.790885	0.01125	0.052	0.76585184520990723	0.11527	0.04910	0.10661	N	AEFDBCI	0.224046	0.34832	N	-2.24886597635347	0.00060	0.002550947	-2.33368636121022	0.00056	0.002449201	0.999997702142817	0.74766	0.67177	0.52595	0	0.606735	0.50208	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	3.24	-6.48	0.01726	-1.253000	0.02987	-3.952000	0.02431	-1.233000	0.01324	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2037:0.1638:0.4707:0.1619	3.030	0.05732	964	0.07719	.;.	.	.	.	.	rs12812	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.184290	0.131313	0.144022	0.184211	0.150000	0.232759	0.243902	0.219697	0.2105	23862.2	50	chr11	1956322	.	G	A	23862.2	.	AC=8;AF=0.211;AN=38;BaseQRankSum=0.91;DP=1732;ExcessHet=0.0419;FS=0;InbreedingCoeff=0.3667;MLEAC=8;MLEAF=0.211;MQ=60;MQRankSum=0;QD=19.21;ReadPosRankSum=1.84;SOR=0.676	GT:AD:DP:GQ:PL	0/1:99,94:193:99:2351,0,2294	13	2	4	0
chr11	3667669	3667669	G	A	exonic	CHRNA10	.	nonsynonymous SNV	CHRNA10:NM_020402:exon4:c.C458T:p.S153L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.798	0.0833430827671	.	.	4.045e-05	0	0	0	0	9.325e-05	0	0	6.5e-06	1	154602	rs748015833	2.409e-05	2.463e-05	3.653e-05	1.143e-05	3.652e-05	1.734e-05	1.53e-05	1.948e-05	1.691e-05	0	0	0	0	0	0	2.746e-05	1.703e-05	3.652e-05	3.943e-05	3.94e-05	3.854e-05	4.035e-05	8.822e-05	1.715e-05	1.129e-05	3.762e-05	2.575e-05	0	0	0	0	0	0	0	8.822e-05	0	0	0.001	0.78490	D	0.004	0.74150	D	0.996	0.68779	D	0.905	0.64260	P	0.011169	0.29634	N	0.160657	0.99997	0.81001	D	2.935	0.84639	M	-1.35	0.80035	T	-5.25	0.84035	D	0.908	0.90932	0.520	0.90829	D	0.678	0.88877	D	10	0.9280337	0.92147	D	0.083343	0.74095	D	0.798	0.93385	0.736	0.86892	0.902511862579	0.90153	0.7003268252067109	0.69973	0.30959749131	0.33265	0.872434794903	0.92915	D	0.504664	0.82364	D	0.347982	0.86369	D	0.262076	0.86189	D	0.969575941562653	0.68638	D	0.967253	0.88140	D	0.62659955	0.74117	0.70698243	0.82723	0.62659955	0.74118	0.70698243	0.82724	-9.706	0.72133	D	.	.	0.509	0.64984	A	.	.	5.379685	0.90166	31	0.99831323216736956	0.91284	0.99649	0.98332	D	AEFDBI	0.900555	0.84623	D	0.805701514922166	0.86462	8.893	0.733843810022734	0.84947	8.43616	0.999999999998142	0.74766	0.580535	0.33130	0	0.546412	0.12157	0	0.576033	0.28219	0	0.711	0.71501	0	.	.	4.8	4.8	0.61157	9.813000	0.98274	11.536000	0.93110	0.586000	0.30580	1.000000	0.71638	1.000000	0.68203	0.791000	0.37352	0.0:0.0:1.0:0.0	16.588	0.84584	840	0.37365	Neurotransmitter-gated ion-channel ligand-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1076.33	38	chr11	3667669	.	G	A	1076.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.729;DP=756;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.62;ReadPosRankSum=-2.555;SOR=0.739	GT:AD:DP:GQ:PL	0/1:36,43:79:99:1090,0,829	18	0	1	0
chr11	4821632	4821632	A	G	exonic	OR51F2	.	nonsynonymous SNV	OR51F2:NM_001004753:exon1:c.A211G:p.T71A	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	.	0.0055	0.00559105	0.0021	0.0166	0.0019	0	0	0.0007	0.0055	6.057e-05	0.0019857	307	154602	rs61741857	0.0010	0.0010	0.0010	0.0009	0.0151	0.0009	0.0009	0.0140	0.0136	0.0151	0.0022	0.0082	0	0	0.0035	0.0004	0.0023	0.0001	0.0054	0.0055	0.0058	0.0051	0.0164	0.0051	0.0050	0.0153	0.0149	0.0164	0	0.0054	0.0069	0	0	0.0034	0.0004	0.0066	0.0002	.	.	.	.	.	.	0.189	0.29346	B	0.085	0.29395	B	0.000800	0.41772	U	0.000000	1	0.81001	D	0.925	0.23481	L	.	.	.	.	.	.	.	.	-1.0147	0.25432	T	0.007	0.02321	T	10	0.0049483776	0.00106	T	.	.	.	0.074	0.21613	.	.	0.0297737177859	0.01360	0.1062458719602817	0.10554	0.0249215528783	0.02537	0.255449712276	0.04363	T	0.013322	0.11547	T	-0.597347	0.00151	T	-0.61785	0.11353	T	0.0327221614041273	0.02425	T	0.664534	0.27348	T	0.25413796	0.48439	0.32586655	0.58498	0.25413796	0.48439	0.32586655	0.58497	-5.031	0.37175	T	.	.	0.090	0.12465	B	.;.	.;.	2.129730	0.27116	17.35	0.98599324429409119	0.43480	0.63134	0.31995	D	AEFBI	0.342935	0.43892	N	-0.208732766245398	0.32776	1.852178	-0.152325924336802	0.33320	1.90469	0.988030465035122	0.31402	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.43	4.43	0.52967	2.171000	0.42080	.	.	0.756000	0.94297	0.003000	0.16062	0.000000	0.08366	0.665000	0.33109	1.0:0.0:0.0:0.0	12.924	0.57645	799	0.44747	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010574	0.045455	0.016304	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	1904.33	33	chr11	4821632	.	A	G	1904.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.272;DP=799;ExcessHet=0;FS=8.335;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.45;ReadPosRankSum=1.41;SOR=0.697	GT:AD:DP:GQ:PL	0/1:80,73:153:99:1918,0,2153	18	0	1	0
chr11	4821684	4821684	G	T	exonic	OR51F2	.	nonsynonymous SNV	OR51F2:NM_001004753:exon1:c.G263T:p.W88L	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	.	0.0055	0.00559105	0.0021	0.0167	0.0019	0	0	0.0007	0.0055	6.056e-05	0.0019922	308	154602	rs61743166	0.0010	0.0010	0.0010	0.0009	0.0150	0.0009	0.0009	0.0139	0.0135	0.0150	0.0022	0.0082	0	0	0.0035	0.0004	0.0023	0.0001	0.0054	0.0055	0.0058	0.0051	0.0164	0.0051	0.0050	0.0154	0.0150	0.0164	0	0.0053	0.0066	0	0	0.0034	0.0004	0.0066	0.0002	.	.	.	.	.	.	0.996	0.68779	D	0.916	0.65201	D	0.001575	0.38612	U	0.000000	1	0.81001	D	0.795	0.19620	N	.	.	.	.	.	.	.	.	-0.7176	0.59580	T	0.005	0.01578	T	10	0.007460505	0.00169	T	.	.	.	0.158	0.41098	.	.	0.156986980423	0.15292	0.1276035621039089	0.12686	0.0325699570458	0.03404	0.384838730097	0.22941	T	0.025828	0.19234	T	-0.547885	0.00300	T	-0.546802	0.17635	T	0.0598168465909884	0.07139	T	0.824018	0.48536	T	0.510097	0.67685	0.58627945	0.76006	0.510097	0.67686	0.58627945	0.76006	-4.638	0.32646	T	.	.	0.127	0.27100	B	.;.	.;.	3.596454	0.50772	23.0	0.9865183816742048	0.44206	0.80417	0.40060	D	AEFBI	0.304582	0.41224	N	0.374470133570327	0.60041	4.18899	0.392918861745797	0.61127	4.308661	4.81391886049725E-4	0.07123	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.43	4.43	0.52967	1.817000	0.38640	.	.	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.151000	0.20341	0.0:0.0:1.0:0.0	16.123	0.81185	799	0.44747	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010070	0.040404	0.014946	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	2262.33	33	chr11	4821684	.	G	T	2262.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.75;DP=809;ExcessHet=0;FS=2.84;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.5;ReadPosRankSum=-2.671;SOR=0.483	GT:AD:DP:GQ:PL	0/1:81,75:156:99:2276,0,2195	18	0	1	0
chr11	4848840	4848840	C	A	exonic	OR51S1	.	nonsynonymous SNV	OR51S1:NM_001004758:exon1:c.G369T:p.L123F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.400	.	0.0043	0.00399361	0.0014	0.0134	0.0010	0	0	0.0001	0.0033	0	0.0012484	193	154602	rs115775855	0.0004	0.0004	0.0005	0.0004	0.0120	0.0004	0.0004	0.0110	0.0107	0.0120	0.0011	0.0020	2.519e-05	0	0.0007	4.406e-05	0.0011	5.797e-05	0.0037	0.0037	0.0039	0.0035	0.0125	0.0035	0.0034	0.0116	0.0113	0.0125	0	0.0020	0.0020	0	0	0.0034	0	0.0033	0.0002	0.001	0.78490	D	0.002	0.79402	D	0.996	0.68779	D	0.945	0.68163	D	0.008883	0.30616	N	0.000000	1	0.81001	D	2.265	0.64440	M	-1.49	0.81235	T	-3.77	0.71397	D	0.71	0.71321	-0.5452	0.66967	T	0.346	0.71099	T	10	0.01670596	0.00353	T	.	.	.	0.400	0.71401	0.605	0.73706	0.775588850733	0.77352	0.5199054794753335	0.51913	0.043626133456	0.04699	0.369202435017	0.20718	T	0.024313	0.18398	T	-0.372172	0.03485	T	-0.296344	0.45110	T	0.0844940584183618	0.10552	T	0.725927	0.34027	T	0.3580031	0.57684	0.45112792	0.68063	0.3580031	0.57684	0.45112792	0.68063	-6.839	0.52848	T	.	.	0.420	0.60672	A	.	.	2.089023	0.26572	17.16	0.99789247147227644	0.87484	0.06019	0.11985	N	AEFI	0.121289	0.23587	N	-0.196960325984944	0.33261	1.884964	-0.37261722942614	0.25817	1.422096	1.67687663744507E-6	0.01202	0.525926	0.21836	0	0.573888	0.26702	0	0.615948	0.41167	0	0.564101	0.26826	0	.	.	4.98	-0.176	0.12658	-2.005000	0.01549	.	.	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.496000	0.28927	0.1361:0.3411:0.1327:0.3901	1.570	0.02455	743	0.52768	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002520	0.005051	0.001359	0.000000	0.000000	0.000000	0.003067	0.000000	0.02632	1712.33	109	chr11	4848840	.	C	A	1712.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.114;DP=1389;ExcessHet=0;FS=2.523;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.15;ReadPosRankSum=-0.221;SOR=0.49	GT:AD:DP:GQ:PL	0/1:45,61:106:99:1726,0,1223	18	0	1	0
chr11	5069945	5069945	T	C	exonic	OR52E1	.	unknown	UNKNOWN	.	3	222	1	0	0	1	0.00224719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0111821	0.0056	0.0444	0.0208	0	0	0.0005	0	0	0.0010414	161	154602	rs115938846	0.0023	0.0011	0.0026	0.0020	0.0324	0.0021	0.0021	0.0290	0.0277	0.0324	0.0077	0.0010	0	0	0.0044	0.0010	0.0054	0.0022	0.0096	0.0097	0.0097	0.0095	0.0310	0.0092	0.0091	0.0295	0.0290	0.0310	0	0.0063	0.0003	0	0	0.0102	0.0008	0.0099	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2558.33	33	chr11	5069945	.	T	C	2558.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.31;DP=1204;ExcessHet=0;FS=2.462;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.12;ReadPosRankSum=-0.392;SOR=0.777	GT:AD:DP:GQ:PL	0/1:101,94:195:99:2572,0,2780	18	0	1	0
chr11	5269543	5269543	T	C	exonic	HBE1	.	nonsynonymous SNV	HBE1:NM_005330:exon2:c.A226G:p.I76V	.	.	.	.	.	.	.	.	.	.	.	3220465	HBE1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.308	0.0453025237423	0.0015	0.00199681	0.0004	0.0041	0.0004	0	0	5.994e-05	0.0022	0	0.0004463	69	154602	rs79612490	0.0002	0.0002	0.0002	0.0001	0.0043	0.0001	0.0001	0.0037	0.0035	0.0043	0.0004	0	0	0	0.0005	3.507e-05	0.0004	1.159e-05	0.0014	0.0014	0.0014	0.0014	0.0048	0.0012	0.0012	0.0043	0.0041	0.0048	0	0.0005	0	0	0	0.0034	1.47e-05	0.0009	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.089251	0.20437	N	0.459175	1	0.81001	D	-1.1	0.00987	N	-3.12	0.92774	D	-0.16	0.09460	N	0.131	0.12627	-0.7710	0.56803	T	0.274	0.64587	T	10	0.0056583583	0.00126	T	0.045303	0.61916	D	0.308	0.62947	.	.	0.60872172215	0.60558	0.3397866420580117	0.33891	0.0336494134643	0.03534	0.290118932724	0.08940	T	0.006858	0.06286	T	-0.426697	0.01552	T	-0.384469	0.35199	T	0.00257390530533509	0.00027	T	0.842016	0.51794	T	0.08120844	0.18648	0.06093266	0.11685	0.08120844	0.18648	0.06093266	0.11685	-1.545	0.01859	T	.	.	0.060	0.01075	B	.;.;.	.;.;.	-0.374935	0.02308	0.244	0.665223651513557	0.08084	0.12168	0.17102	N	AEFBHCI	0.130500	0.24908	N	-1.66908372859729	0.00957	0.04147066	-1.61899305727375	0.01544	0.06995184	0.999999944778217	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	6.06	-7.73	0.01107	-0.837000	0.04485	.	.	-0.284000	0.06380	0.010000	0.18352	0.000000	0.08366	0.979000	0.57723	0.0:0.7053:0.0:0.2947	19.146	0.93455	834	0.38640	Globin|Globin;Globin|Globin;Globin|Globin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2810.33	35	chr11	5269543	.	T	C	2810.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.74;DP=891;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.57;ReadPosRankSum=1.18;SOR=0.718	GT:AD:DP:GQ:PL	0/1:134,109:243:99:2824,0,3456	18	0	1	0
chr11	5422907	5422907	G	A	exonic	OR51Q1	.	nonsynonymous SNV	OR51Q1:NM_001004757:exon1:c.G707A:p.R236Q	.	.	.	.	.	.	.	.	.	.	.	3370764	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.132	0.0016574770183	0.0002	.	0.0003	0	8.639e-05	0	0.0015	0.0004	0	0	0.0003687	57	154602	rs141547549	0.0003	0.0003	0.0003	0.0003	0.0009	0.0003	0.0003	0.0003	0.0003	2.987e-05	0.0001	0	0.0002	0.0012	0.0009	0.0003	0.0002	2.319e-05	0.0003	0.0003	0.0003	0.0004	0.0003	0.0002	0.0002	0.0002	0.0002	7.222e-05	0	0.0003	0	0.0002	0.0016	0	0.0003	0	0	0.089	0.32141	T	0.191	0.28391	T	1.0	0.90584	D	0.999	0.92359	D	0.019593	0.27223	N	0.244803	0.999981	0.18198	N	1.85	0.49092	L	8.15	0.00286	T	-3.5	0.68178	D	0.157	0.16308	-0.8853	0.49332	T	0.002	0.00526	T	10	0.025961041	0.00775	T	0.001657	0.02728	T	0.132	0.35948	.	.	0.243398259712	0.23965	0.1627407421260048	0.16194	0.0116065001452	0.01090	0.243144780397	0.03081	T	0.011876	0.10530	T	-0.39751	0.02404	T	-0.480811	0.24361	T	0.109037866715275	0.13324	T	0.90161	0.65783	D	0.20688199	0.42877	0.15204774	0.35789	0.20688199	0.42877	0.15204774	0.35789	-4.414	0.29746	T	.	.	0.082	0.08851	B	.	.	2.137012	0.27209	17.38	0.9984443720308056	0.92489	0.21507	0.21426	N	AEFDGBHCI	0.104983	0.20989	N	-0.0626458537621814	0.39039	2.295909	-0.266194586486341	0.29220	1.635317	0.782755017465769	0.23874	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.0	3.13	0.35090	1.839000	0.38861	.	.	0.385000	0.20450	0.013000	0.18845	0.000000	0.08366	0.017000	0.10941	0.1627:0.0:0.8373:0.0	10.251	0.42548	667	0.61242	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2759.33	142	chr11	5422907	.	G	A	2759.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.29;DP=2040;ExcessHet=0;FS=2.41;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.8;ReadPosRankSum=2.16;SOR=0.866	GT:AD:DP:GQ:PL	0/1:101,99:200:99:2773,0,2571	18	0	1	0
chr11	5857002	5857002	G	A	exonic	OR52E8	.	nonsynonymous SNV	OR52E8:NM_001005168:exon1:c.C701T:p.P234L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	0.0249913115559	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.51248	D	0.005	0.72224	D	0.25	0.31189	B	0.25	0.39011	B	0.000035	0.55875	D	0.000000	0.999995	0.08975	N	3.08	0.87267	M	1.09	0.39223	T	-9.2	0.98244	D	0.36	0.40164	-0.7038	0.60256	T	0.227	0.59158	T	10	0.31116587	0.48588	T	0.024991	0.47973	T	0.154	0.40340	0.59	0.71874	0.423836183345	0.42003	0.1894805105847889	0.18866	0.00346480532179	0.00296	0.246515765786	0.03409	T	0.008579	0.07868	T	-0.11033	0.34715	T	-0.396258	0.33820	T	0.998695313930511	0.94887	D	0.841716	0.51747	T	0.44768956	0.63895	0.3375292	0.59542	0.44768956	0.63896	0.3375292	0.59541	-7.693	0.58959	D	.	.	0.169	0.37255	B	.	.	2.011221	0.25557	16.80	0.98817429823102287	0.46720	0.12457	0.17280	N	AEFI	0.113525	0.22396	N	-0.222007020201951	0.32231	1.815548	-0.346575090596424	0.26615	1.471265	1.39635024789786E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.42	3.47	0.38831	0.575000	0.23431	.	.	0.649000	0.52879	0.000000	0.06391	0.008000	0.19753	0.002000	0.04165	0.0:0.0:0.8316:0.1684	12.540	0.55508	737	0.53483	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	.	.	.	.	.	.	.	.	0.02632	503.33	34	chr11	5857002	.	G	A	503.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.23;DP=776;ExcessHet=0;FS=0.984;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.99;ReadPosRankSum=0.384;SOR=0.53	GT:AD:DP:GQ:PL	0/1:51,21:72:99:517,0,1410	18	0	1	0
chr11	6200109	6200109	C	G	exonic	OR52W1	.	nonsynonymous SNV	OR52W1:NM_001005178:exon1:c.C886G:p.L296V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.0114858743224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.313	0.13879	T	0.419	0.14158	T	0.911	0.50336	P	0.158	0.34617	B	0.003626	0.34687	N	0.000000	0.905535	0.36277	D	0.41	0.12415	N	1.07	0.39586	T	0.43	0.03297	N	0.052	0.02366	-0.9765	0.35794	T	0.081	0.32090	T	10	0.1060805	0.19639	T	0.011486	0.29167	T	0.088	0.25558	0.397	0.42426	0.207176502487	0.20327	0.04900367529630378	0.04843	0.0233216950399	0.02366	0.204009205103	0.00582	T	5.16E-4	0.00194	T	-0.253739	0.13642	T	-0.602255	0.12622	T	0.502938449382782	0.32737	D	0.70483	0.31518	T	0.12892555	0.30127	0.11809379	0.28508	0.12892555	0.30127	0.11809379	0.28508	-3.839	0.21388	T	.	.	0.096	0.15385	B	.	.	2.102681	0.26757	17.23	0.99468787433388461	0.66207	0.36052	0.25444	N	AEFBI	0.406343	0.47887	N	-0.0291148856449301	0.40540	2.409298	-0.00557001676917808	0.39462	2.340232	0.999715313907442	0.42101	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.11	5.11	0.69188	-0.358000	0.07692	0.729000	0.21072	0.599000	0.40250	0.000000	0.06391	0.185000	0.23452	0.633000	0.32236	0.1663:0.8337:0.0:0.0	13.517	0.61000	665	0.61472	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	.	.	.	.	.	.	.	.	0.2368	1154.82	35	chr11	6200109	.	C	G	1154.82	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-6.448;DP=2227;ExcessHet=5.3738;FS=120.687;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=60;MQRankSum=0;QD=0.76;ReadPosRankSum=1.45;SOR=10.85	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:146,30:176:99:0|1:6200108_C_G:277,0,5334:6200108	10	0	9	0
chr11	6390623	6390623	C	A	exonic	SMPD1	.	nonsynonymous SNV	SMPD1:NM_000543:exon1:c.C25A:p.R9S,SMPD1:NM_001007593:exon1:c.C25A:p.R9S,SMPD1:NM_001318087:exon1:c.C25A:p.R9S,SMPD1:NM_001365135:exon1:c.C25A:p.R9S	Niemann-Pick disease, type A, Autosomal recessive;Niemann-Pick disease, type B, Autosomal recessive	0	1518	4	0	0	4	0.00131579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00355691324993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.494	0.07920	T	0.618	0.07493	T	.	.	.	.	.	.	0.927367	0.07514	N	1.044200	1	0.08975	N	0.345	0.11182	N	3.05	0.08721	T	-0.3	0.11913	N	0.071	0.04426	-0.9233	0.45098	T	0.008	0.02842	T	10	0.04510939	0.03544	T	0.003557	0.08123	T	0.009	0.00846	0.154	0.05752	0.117506650769	0.11410	0.4826699518479255	0.48186	0.236902228029	0.26229	0.289004445076	0.08777	T	0.28929	0.66208	T	-0.354886	0.04428	T	-0.747545	0.03582	T	0.0372036538900795	0.03191	T	0.312569	0.06116	T	0.108058155	0.25549	0.039625954	0.04098	0.108058155	0.25549	0.039625954	0.04098	-3.29	0.13608	T	.	.	0.106	0.25914	B	.;.	.;.	0.477849	0.08472	5.233	0.6138226907591452	0.06695	0.09497	0.15239	N	ALL	0.152674	0.27739	N	-1.55295374105895	0.01517	0.06626256	-1.59300366212282	0.01697	0.07713057	0.999999999965824	0.74766	0.652421	0.48094	0	0.52208	0.09955	0	0.64067	0.45733	0	0.56214	0.19341	0	.	.	4.97	-5.95	0.02054	0.054000	0.14087	-0.960000	0.06783	-0.181000	0.10308	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1595:0.3262:0.1557:0.3587	1.673	0.02646	809	0.43032	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1175.33	39	chr11	6390623	.	C	A	1175.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.935;DP=749;ExcessHet=0;FS=3.685;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.19;ReadPosRankSum=-0.305;SOR=0.387	GT:AD:DP:GQ:PL	0/1:56,49:105:99:1189,0,1370	18	0	1	0
chr11	6390706	6390717	GCTGGCGCTGGC	-	exonic	SMPD1	.	nonframeshift deletion	SMPD1:NM_000543:exon1:c.108_119del:p.A46_L49del,SMPD1:NM_001007593:exon1:c.108_119del:p.A46_L49del,SMPD1:NM_001318087:exon1:c.108_119del:p.A46_L49del,SMPD1:NM_001365135:exon1:c.108_119del:p.A46_L49del	Niemann-Pick disease, type A, Autosomal recessive;Niemann-Pick disease, type B, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	254228	Niemann-Pick_disease,_type_A|Niemann-Pick_disease,_type_B|not_specified|not_provided	MONDO:MONDO:0009756,MedGen:C0268242,OMIM:257200,Orphanet:77292|MONDO:MONDO:0011871,MedGen:C0268243,OMIM:607616,Orphanet:77293|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs1292325797	0.0002	0.0002	0.0002	0.0002	0.0013	0.0002	0.0002	0.0010	0.0009	0.0013	0.0002	3.875e-05	0	0	0.0009	0.0002	0.0003	3.511e-05	0.0005	0.0005	0.0004	0.0006	0.0014	0.0004	0.0004	0.0011	0.0010	0.0014	0	0.0004	0	0	0	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	48070.0	78	chr11	6390705	.	TGCTGGCGCTGGC	T	48070.0	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.83;DP=1831;ExcessHet=0;FS=0;InbreedingCoeff=nan;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=30.68;ReadPosRankSum=-0.4;SOR=0.352	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,43:71:99:.:.:2970,1174,1118:.	18	0	1	0
chr11	6557411	6557411	C	A	exonic	DNHD1	.	nonsynonymous SNV	DNHD1:NM_144666:exon25:c.C8116A:p.P2706T	.	322	1166	29	5	0	39	0.0164488	.	.	.	701888	DNHD1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.149	.	0.0035	0.00199681	0.0052	0.0010	0.0052	0	0.0109	0.0061	0.0053	0.0057	0.0016041	248	154602	rs192678564	0.0043	0.0042	0.0042	0.0044	0.0056	0.0042	0.0042	0.0052	0.0050	0.0008	0.0033	0.0089	0	0.0027	0.0053	0.0045	0.0039	0.0056	0.0033	0.0033	0.0035	0.0030	0.0050	0.0030	0.0030	0.0045	0.0043	0.0010	0	0.0033	0.0060	0	0.0019	0.0102	0.0049	0.0033	0.0050	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	.	.	.	.	0.748186	0.33898	D	1.975	0.53506	M	1.2	0.37405	T	-2.05	0.47008	N	0.139	0.14905	-0.8769	0.50005	T	0.083	0.32700	T	9	0.0074189305	0.00169	T	.	.	.	0.149	0.39377	.	.	0.471292358255	0.46759	0.1847132401032464	0.18389	0.56369228266	0.52792	0.417725682259	0.27524	T	0.007957	0.07329	T	-0.419871	0.01713	T	-0.374249	0.36393	T	0.0172735814394521	0.00468	T	0.458654	0.13238	T	0.1698434	0.37524	0.23968908	0.49325	0.1698434	0.37524	0.23968908	0.49324	-3.654	0.18641	T	.	.	0.230	0.46238	B	.;.	.;.	1.907854	0.24231	16.32	0.99451365453118268	0.65274	0.96239	0.68176	D	AEFDBI	0.183617	0.31094	N	0.325248348728929	0.57448	3.912109	0.360639371663606	0.59152	4.090616	0.999999994108912	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.16	5.16	0.70563	1.685000	0.37277	1.784000	0.28742	0.599000	0.40250	0.541000	0.27275	0.453000	0.24963	0.208000	0.22126	0.0:1.0:0.0:0.0	17.652	0.88071	464	0.78488	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007888	0.000000	0.012963	0.000000	0.000000	0.000000	0.017123	0.013636	0.02632	1029.33	99	chr11	6557411	.	C	A	1029.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.754;DP=1298;ExcessHet=0;FS=8.41;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.95;ReadPosRankSum=-0.597;SOR=0.817	GT:AD:DP:GQ:PL	0/1:54,40:94:99:1043,0,1642	18	0	1	0
chr11	6564079	6564079	G	C	exonic	DNHD1	.	nonsynonymous SNV	DNHD1:NM_144666:exon31:c.G10239C:p.K3413N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.246	0.037918526582	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.236	0.17940	T	0.0	0.92824	D	0.922	0.51142	P	0.583	0.50264	P	.	.	.	.	0.966659	0.25884	N	2.015	0.55033	M	-0.82	0.74053	T	-1.07	0.27876	N	0.325	0.41162	-0.7361	0.58653	T	0.305	0.67547	T	9	0.36649692	0.53143	T	0.037919	0.57909	D	0.246	0.55340	0.518	0.61915	0.707650254962	0.70510	0.38322019556356207	0.38237	0.532401565123	0.50703	0.379581391811	0.22198	T	0.064	0.32320	T	-0.08036	0.39657	T	-0.353208	0.38837	T	0.574073241482542	0.35391	D	0.510949	0.16331	T	0.27499932	0.50564	0.25137228	0.50747	0.27499932	0.50564	0.25137228	0.50746	-4.843	0.35088	T	.	.	0.412	0.60243	A	.;.	.;.	2.357286	0.30230	18.37	0.98888292569358716	0.47948	0.86877	0.46256	D	AEFDBI	0.133163	0.25273	N	0.0924144595753655	0.46109	2.856479	0.0938492095698804	0.44239	2.709482	0.999997307219467	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.27	4.27	0.50009	2.194000	0.42301	0.078000	0.14353	0.618000	0.50648	0.991000	0.37257	0.003000	0.18671	0.944000	0.48669	0.0:0.0:1.0:0.0	12.045	0.52771	425	0.81160	Dynein heavy chain, coiled coil stalk;Dynein heavy chain, coiled coil stalk	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	563.21	93	chr11	6564079	.	G	C	563.21	.	AC=6;AF=0.2;AN=30;BaseQRankSum=-2.147;DP=1498;ExcessHet=2.0135;FS=208.676;InbreedingCoeff=-0.265;MLEAC=7;MLEAF=0.233;MQ=60;MQRankSum=0;QD=1.23;ReadPosRankSum=1.38;SOR=11.704	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:58,35:104:99:.:.:218,0,820:.	9	0	6	4
chr11	6622918	6622918	C	T	exonic	DCHS1	.	nonsynonymous SNV	DCHS1:NM_003737:exon21:c.G8758A:p.V2920M	Mitral valve prolapse 2, Autosomal dominant;Van Maldergem syndrome 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	363808	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.319	.	0.0038	0.00499201	0.0021	0.0190	0.0018	0	0	0.0002	0	0	0.0010414	161	154602	rs115534913	0.0005	0.0005	0.0005	0.0004	0.0130	0.0004	0.0004	0.0119	0.0115	0.0130	0.0004	0	0.0001	0	0.0078	0.0001	0.0008	0.0001	0.0035	0.0035	0.0036	0.0033	0.0122	0.0032	0.0031	0.0113	0.0110	0.0122	0	0.0007	0	0	0	0	1.47e-05	0.0038	0	0.005	0.63226	D	0.003	0.76473	D	0.999	0.77913	D	0.921	0.65636	D	0.004360	0.33837	N	0.000000	0.996984	0.43549	D	3.245	0.89746	M	0.34	0.58176	T	-2.14	0.48523	N	0.293	0.33140	-0.3380	0.73902	T	0.225	0.58907	T	10	0.009411812	0.00212	T	.	.	.	0.319	0.64112	.	.	0.581500410241	0.57821	0.5741070317298129	0.57339	0.222531810099	0.24789	0.681091368198	0.64425	T	0.277434	0.65005	T	-0.453393	0.01078	T	-0.412368	0.31951	T	0.0461024537725776	0.04802	T	0.890111	0.62362	D	0.12821901	0.29983	0.13786626	0.32941	0.12821901	0.29983	0.13786626	0.32941	-8.264	0.62855	D	.	.	0.481	0.63698	A	.	.	3.823885	0.55226	23.6	0.99786527640437184	0.87308	0.51260	0.28854	D	AEFDBI	.	.	.	0.71086692962686	0.80347	7.273734	0.625963580699631	0.76832	6.564088	0.999959908361321	0.48110	0.67177	0.52595	0	0.588066	0.40923	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	4.62	4.62	0.56946	0.924000	0.28378	3.321000	0.37545	0.599000	0.40250	0.484000	0.26832	0.998000	0.33993	0.976000	0.56436	0.0:0.9074:0.0:0.0926	10.683	0.45022	534	0.73357	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	0.004040	0.000000	0.005435	0.008772	0.000000	0.000000	0.000000	0.000000	0.02632	967.33	71	chr11	6622918	.	C	T	967.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.949;DP=998;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.63;ReadPosRankSum=-1.42;SOR=0.784	GT:AD:DP:GQ:PL	0/1:51,40:91:99:981,0,1245	18	0	1	0
chr11	6845944	6845944	G	T	exonic	OR10A5	.	nonsynonymous SNV	OR10A5:NM_178168:exon1:c.G262T:p.A88S	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	.	0.0059	0.00459265	0.0015	0.0162	0.0005	0	0	8.992e-05	0	0	0.0014101	218	154602	rs113309084	0.0005	0.0005	0.0005	0.0004	0.0160	0.0005	0.0004	0.0149	0.0144	0.0160	0.0009	0	0	0	0.0023	3.417e-05	0.0011	8.115e-05	0.0042	0.0042	0.0044	0.0041	0.0145	0.0040	0.0039	0.0135	0.0131	0.0145	0	0.0018	0	0	0	0.0034	0.0001	0.0028	0	0.692	0.04277	T	0.683	0.06052	T	0.0	0.02946	B	0.001	0.04355	B	0.005275	0.32945	N	0.212287	1	0.08975	N	-1.57	0.00452	N	5.0	0.01319	T	0.61	0.02480	N	0.067	0.03956	-0.9109	0.46744	T	0.001	0.00255	T	10	0.003570646	0.00064	T	.	.	.	0.072	0.21020	.	.	0.124217242631	0.12060	0.09717321149309605	0.09648	0.0696468571568	0.07798	0.256300508976	0.04460	T	0.016762	0.13794	T	-0.794435	0.00008	T	-0.900954	0.00496	T	0.00982743274542932	0.00129	T	0.0069993	0.00030	T	0.04497482	0.07282	0.043201298	0.05321	0.04497482	0.07282	0.043201298	0.05321	-2.51	0.05850	T	.	.	0.068	0.02861	B	.	.	0.059729	0.04708	1.346	0.72729362696477473	0.10075	0.03426	0.08557	N	AEFGI	0.053241	0.09575	N	-1.01573095671332	0.08277	0.387519	-0.842934179354494	0.13458	0.6982218	9.97735922245092E-5	0.04910	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.42	2.5	0.29355	-2.347000	0.01175	-0.888000	0.07039	0.597000	0.34315	0.000000	0.06391	0.000000	0.08366	0.983000	0.59808	0.2515:0.0:0.7485:0.0	5.550	0.16374	523	0.74147	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	0.003027	0.000000	0.005435	0.008876	0.000000	0.000000	0.000000	0.000000	0.02632	3621.33	38	chr11	6845944	.	G	T	3621.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.986;DP=983;ExcessHet=0;FS=0.478;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=53.02;MQRankSum=0.929;QD=15.22;ReadPosRankSum=0.026;SOR=0.747	GT:AD:DP:GQ:PL	0/1:116,122:238:99:3635,0,3509	18	0	1	0
chr11	7565567	7565567	G	A	exonic	PPFIBP2	.	nonsynonymous SNV	PPFIBP2:NM_001351853:exon3:c.G79A:p.A27T,PPFIBP2:NM_001351854:exon3:c.G79A:p.A27T,PPFIBP2:NM_001351855:exon3:c.G79A:p.A27T,PPFIBP2:NM_001351856:exon3:c.G79A:p.A27T,PPFIBP2:NM_003621:exon3:c.G79A:p.A27T,PPFIBP2:NM_001351862:exon4:c.G79A:p.A27T	.	415	1106	1	0	0	1	0.000451875	.	.	.	2400217	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.061	0.00168023893645	.	0.000399361	2.471e-05	9.61e-05	0	0	0	2.997e-05	0	0	3.23e-05	5	154602	rs200278198	4.241e-05	4.241e-05	4.356e-05	4.125e-05	0.0005	3.376e-05	3.065e-05	0.0003	0.0002	0.0004	4.472e-05	0	0	0	0.0005	3.327e-05	6.623e-05	1.159e-05	4.595e-05	4.593e-05	3.854e-05	5.37e-05	9.62e-05	2.107e-05	1.526e-05	3.242e-05	1.91e-05	9.62e-05	0	0	0	0	0	0	1.47e-05	0.0009	0	0.19	0.36912	T	0.478	0.24477	T	0.001	0.07471	B	0.001	0.04355	B	0.006119	0.32266	N	0.212247	0.915471	0.27413	N	0.895	0.22405	L	2.33	0.16492	T	-1.41	0.34795	N	0.188	0.20528	-1.0459	0.15563	T	0.024	0.10103	T	10	0.042307287	0.02967	T	0.00168	0.02779	T	0.061	0.17616	.	.	0.342631996419	0.33872	0.33937888172755315	0.33850	0.027915624442	0.02864	0.330715894699	0.15043	T	0.016836	0.13838	T	-0.394266	0.02524	T	-0.622585	0.10983	T	0.237125486135483	0.22286	T	0.659534	0.26859	T	0.027199263	0.01878	0.051926326	0.08454	0.027199263	0.01878	0.051926326	0.08453	-3.93	0.22753	T	.	.	0.064	0.02518	B	.;.;.;.;.	.;.;.;.;.	1.216576	0.16100	12.32	0.99029262827310027	0.50764	0.49038	0.28343	N	AEFBI	0.079602	0.16080	N	-0.324206939744701	0.28231	1.555441	-0.123994574769192	0.34426	1.980067	0.991798763235384	0.32611	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.530356	0.10902	0	.	.	5.49	4.58	0.56077	0.076000	0.14570	0.206000	0.15906	0.676000	0.76740	0.448000	0.26550	0.000000	0.08366	0.999000	0.91618	0.1715:0.0:0.8285:0.0	8.368	0.31561	828	0.39726	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.005848	0.000000	0.000000	0.000000	0.000000	0.02632	713.33	41	chr11	7565567	.	G	A	713.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.597;DP=787;ExcessHet=0;FS=3.248;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.2;ReadPosRankSum=0.862;SOR=1.197	GT:AD:DP:GQ:PL	0/1:57,30:87:99:727,0,1561	18	0	1	0
chr11	7565639	7565639	C	T	exonic	PPFIBP2	.	nonsynonymous SNV	PPFIBP2:NM_001351853:exon3:c.C151T:p.L51F,PPFIBP2:NM_001351854:exon3:c.C151T:p.L51F,PPFIBP2:NM_001351855:exon3:c.C151T:p.L51F,PPFIBP2:NM_001351856:exon3:c.C151T:p.L51F,PPFIBP2:NM_003621:exon3:c.C151T:p.L51F,PPFIBP2:NM_001351862:exon4:c.C151T:p.L51F	.	420	1101	1	0	0	1	0.000453926	.	.	.	3366288	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.267	0.015028093553	.	0.000599042	7.413e-05	9.61e-05	0	0	0	2.997e-05	0	0.0004	7.76e-05	12	154602	rs201893667	7.73e-05	7.73e-05	6.942e-05	8.525e-05	0.0005	6.532e-05	6.136e-05	0.0004	0.0004	0.0004	4.472e-05	0	0	0	0.0005	3.777e-05	6.623e-05	0.0005	5.907e-05	5.905e-05	5.138e-05	6.71e-05	0.0004	3.074e-05	2.208e-05	7.287e-05	3.028e-05	9.618e-05	0	0	0	0	0	0	1.47e-05	0.0009	0.0004	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.961	0.70482	D	0.000256	0.46924	D	0.000000	0.912	0.27488	N	2.545	0.74286	M	2.54	0.13916	T	-3.9	0.72932	D	0.561	0.58543	-1.1150	0.02673	T	0.084	0.32814	T	10	0.12440354	0.23627	T	0.015028	0.35522	T	0.267	0.58126	.	.	0.332133492242	0.32818	0.3922735903535336	0.39142	0.231657148612	0.25718	0.474914908409	0.35358	T	0.229473	0.59530	T	-0.303628	0.08322	T	-0.373593	0.36468	T	0.796588659286499	0.46123	D	0.869313	0.57326	D	0.14469805	0.33202	0.21437192	0.45985	0.14469805	0.33202	0.21437192	0.45984	-6.098	0.47092	T	.	.	0.178	0.38764	B	.;.;.;.;.	.;.;.;.;.	3.752651	0.53796	23.4	0.99893143084633651	0.96666	0.61625	0.31539	D	AEFBI	0.128569	0.24639	N	0.414719826639645	0.62230	4.435715	0.356847960906002	0.58921	4.065868	0.976656163557122	0.29745	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.616125	0.45549	0	.	.	5.49	3.58	0.40133	0.701000	0.25293	3.295000	0.37336	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.942000	0.48361	0.3012:0.6988:0.0:0.0	12.620	0.55953	828	0.39726	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.005848	0.000000	0.000000	0.000000	0.000000	0.02632	886.33	41	chr11	7565639	.	C	T	886.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.328;DP=808;ExcessHet=0;FS=1.596;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.28;ReadPosRankSum=-0.609;SOR=0.54	GT:AD:DP:GQ:PL	0/1:67,40:107:99:900,0,1835	18	0	1	0
chr11	8620481	8620481	G	A	exonic	TRIM66	.	nonsynonymous SNV	TRIM66:NM_014818:exon16:c.C3109T:p.R1037W	.	431	1077	13	1	0	15	0.00691563	.	.	.	2816426	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.026	.	0.0037	0.00379393	0.0046	0.0005	0.0026	0	0.0025	0.0047	0.0047	0.0063	0.0012354	191	154602	rs138444298	0.0047	0.0045	0.0047	0.0048	0.0068	0.0046	0.0046	0.0063	0.0062	0.0010	0.0036	0.0031	0	0.0024	0.0047	0.0050	0.0047	0.0068	0.0032	0.0032	0.0034	0.0030	0.0072	0.0030	0.0029	0.0054	0.0047	0.0009	0	0.0029	0.0043	0	0.0023	0.0068	0.0047	0.0047	0.0072	0.001	0.78490	D	0.018	0.59732	D	0.081	0.24602	B	0.027	0.21085	B	0.006642	0.31890	N	0.204155	1	0.08975	N	1.79	0.46772	L	-0.2	0.66474	T	-4.12	0.75058	D	0.217	0.24260	-0.8955	0.48437	T	0.130	0.43887	T	10	0.0055477023	0.00123	T	.	.	.	0.079	0.23065	.	.	0.732548156873	0.73016	0.49871414342802306	0.49792	.	.	0.425918519497	0.28650	T	0.16208	0.50659	T	-0.423098	0.01635	T	-0.375962	0.36194	T	0.0314704420708291	0.02221	T	0.742826	0.36203	T	0.14717536	0.33656	0.17139192	0.39317	0.14717536	0.33655	0.17139192	0.39317	-5.445	0.41350	T	.	.	0.131	0.28232	B	.;.;.	.;.;.	3.567947	0.50241	22.9	0.99702678716745119	0.80729	0.28097	0.23460	N	AEFDBI	0.346012	0.44097	N	-0.432309289709939	0.24343	1.313791	-0.359936476188308	0.26203	1.445801	0.00582570620209449	0.11053	0.706548	0.73137	0	0.724815	0.89359	0	0.653264	0.51672	0	0.683762	0.67416	0	.	.	4.68	3.76	0.42368	0.884000	0.27851	5.827000	0.50131	0.676000	0.76740	0.035000	0.20724	1.000000	0.68203	0.845000	0.39915	0.0875:0.1601:0.7524:0.0	8.067	0.29828	502	0.75873	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008353	0.015957	0.006944	0.008547	0.000000	0.000000	0.005882	0.000000	0.02632	1361.33	36	chr11	8620481	.	G	A	1361.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.33;DP=782;ExcessHet=0;FS=4.878;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.09;ReadPosRankSum=-0.13;SOR=1.07	GT:AD:DP:GQ:PL	0/1:50,54:104:99:1375,0,1181	18	0	1	0
chr11	14775673	14775673	G	T	exonic	PDE3B	.	nonsynonymous SNV	PDE3B:NM_001363570:exon3:c.G1120T:p.D374Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.181e-06	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	.	.	.	.	.	.	.	.	0.04545	54.23	2	chr11	14775673	.	G	T	54.23	.	AC=1;AF=0.045;AN=22;BaseQRankSum=-0.967;DP=26;ExcessHet=0;FS=0;InbreedingCoeff=0.1158;MLEAC=2;MLEAF=0.091;MQ=60;MQRankSum=0;QD=18.08;ReadPosRankSum=0;SOR=0.223	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,2:3:1:0|1:14775673_G_T:61,0,1:14775673	10	0	1	8
chr11	18475640	18475640	G	A	splicing	LDHAL6A	NM_001144071:exon5:c.592+1G>A;NM_144972:exon4:c.592+1G>A	.	.	.	422	1095	5	0	0	5	0.0022779	1.0000	0.926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.000399361	0.0009	0.0004	0.0007	0.0001	0	0.0014	0	0.0004	0.0011061	171	154602	rs145833201	0.0017	0.0017	0.0017	0.0017	0.0033	0.0016	0.0016	0.0022	0.0019	0.0003	0.0009	0.0005	5.047e-05	0.0001	0.0033	0.0020	0.0020	0.0005	0.0011	0.0011	0.0013	0.0010	0.0021	0.0010	0.0010	0.0018	0.0017	0.0005	0	0.0006	0.0003	0	0	0.0034	0.0021	0.0009	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0554217	0.43619	T	0.141447	0.79639	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	3.943431	0.57716	23.9	0.99468149053318733	0.66207	0.95002	0.63082	D	AEFBI	.	.	.	0.867474965530541	0.90079	10.24391	0.633787868114532	0.77410	6.673676	0.998933086992191	0.38009	0.088506	0.02282	0	0.096993	0.02736	0	0.060301	0.00762	0	0.089874	0.02613	0	0.857846	0.52491	3.57	3.57	0.40014	5.907000	0.69646	1.008000	0.23311	0.618000	0.50648	1.000000	0.71638	0.957000	0.29195	0.847000	0.40026	0.0:0.0:1.0:0.0	13.006	0.58111	653	0.62661	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1222.33	34	chr11	18475640	.	G	A	1222.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.575;DP=744;ExcessHet=0;FS=3.567;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.63;ReadPosRankSum=0.911;SOR=0.417	GT:AD:DP:GQ:PL	0/1:66,49:115:99:1236,0,1739	18	0	1	0
chr11	36573881	36573881	G	A	exonic	RAG1	.	nonsynonymous SNV	RAG1:NM_000448:exon2:c.G577A:p.E193K,RAG1:NM_001377280:exon2:c.G577A:p.E193K,RAG1:NM_001377279:exon3:c.G577A:p.E193K,RAG1:NM_001377278:exon4:c.G577A:p.E193K,RAG1:NM_001377277:exon5:c.G577A:p.E193K	Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity;Combined cellular and humoral immune defects with granulomas, Autosomal recessive;Omenn syndrome, Autosomal recessive;Severe combined immunodeficiency, B cell-negative, Autosomal recessive	0	1514	8	0	0	8	0.00263505	.	.	.	320387	Combined_immunodeficiency_with_skin_granulomas|Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-positive|Recombinase_activating_gene_1_deficiency|Histiocytic_medullary_reticulosis|not_specified|not_provided	MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650,Orphanet:157949|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457,Orphanet:331206|MONDO:MONDO:0000572,MedGen:CN375631|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554,Orphanet:39041|MedGen:CN169374|MedGen:C3661900	reviewed_by_expert_panel	Benign	.	.	.	.	.	.	.	.	0.200	.	0.0007	0.00858626	0.0041	0.0020	0.0035	0.0006	0	0.0003	0.0033	0.0250	0.0037516	580	154602	rs34841221	0.0020	0.0020	0.0013	0.0026	0.0239	0.0019	0.0019	0.0231	0.0227	0.0029	0.0022	0	0.0004	1.872e-05	0.0045	0.0003	0.0031	0.0239	0.0020	0.0020	0.0017	0.0024	0.0234	0.0018	0.0018	0.0199	0.0186	0.0031	0	0.0024	0	0.0010	0	0	0.0003	0.0028	0.0234	0.001	0.78490	D	0.059	0.45961	T	0.025	0.19245	B	0.02	0.19048	B	0.029419	0.25458	N	0.460284	0.976992	0.39326	D	2.93	0.84523	M	1.2	0.37405	T	-1.63	0.39119	N	0.198	0.21839	-0.9588	0.39405	T	0.116	0.41097	T	10	0.006309539	0.00142	T	.	.	.	0.200	0.48430	.	.	0.787300041622	0.78532	0.8197709667649028	0.81934	0.742457196902	0.63339	0.362892061472	0.19806	T	0.272725	0.64512	T	-0.39678	0.02430	T	-0.323799	0.42157	T	0.0630453081786486	0.07639	T	0.925407	0.72589	D	0.13762543	0.31859	0.14091061	0.33573	0.13762543	0.31859	0.14091061	0.33572	-3.183	0.12274	T	0.2443072653280299	0.33091	0.089	0.12228	B	.	.	1.797760	0.22853	15.79	0.99806925568530724	0.89085	0.97903	0.78000	D	AEFDGBI	0.699077	0.65654	D	-0.159043220589508	0.34852	1.994568	-0.114613474459995	0.34800	2.005936	0.999999999972496	0.74766	0.516011	0.20929	0	0.563428	0.19063	0	0.573888	0.23631	0	0.586402	0.36253	0	.	.	5.9	4.97	0.65419	4.085000	0.57380	3.868000	0.40172	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.002000	0.04165	0.0:0.1331:0.8669:0.0	16.779	0.85421	485	0.77085	RAG1 importin-binding	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006042	0.020202	0.002717	0.000000	0.000000	0.000000	0.000000	0.018939	0.05263	6251.83	33	chr11	36573881	.	G	A	6251.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.663;DP=1063;ExcessHet=0.119;FS=0.521;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.47;ReadPosRankSum=0.979;SOR=0.778	GT:AD:DP:GQ:PL	0/1:115,123:238:99:3105,0,3107	17	0	2	0
chr11	36593525	36593525	G	A	exonic	RAG2	.	nonsynonymous SNV	RAG2:NM_000536:exon2:c.C644T:p.T215I,RAG2:NM_001243785:exon3:c.C644T:p.T215I,RAG2:NM_001243786:exon3:c.C644T:p.T215I	Combined cellular and humoral immune defects with granulomas, Autosomal recessive;Omenn syndrome, Autosomal recessive;Severe combined immunodeficiency, B cell-negative, Autosomal recessive	0	1514	8	0	0	8	0.00263505	.	.	.	28174	Severe_combined_immunodeficiency,_B_cell-negative|Recombinase_activating_gene_2_deficiency|Histiocytic_medullary_reticulosis|Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-positive|Inborn_error_of_immunity|not_provided|not_specified|Combined_immunodeficiency_with_skin_granulomas	MedGen:C1867362|MONDO:MONDO:0000573,MedGen:CN257931|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554,Orphanet:39041|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457,Orphanet:331206|MONDO:MONDO:0003778,MedGen:C0398686,Orphanet:101997|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650,Orphanet:157949	reviewed_by_expert_panel	Benign	.	.	.	.	.	.	.	.	0.452	.	.	0.00778754	0.0036	0.0009	0.0003	0.0006	0	2.997e-05	0.0022	0.0250	0.0032535	503	154602	rs35691292	0.0016	0.0016	0.0010	0.0022	0.0239	0.0015	0.0015	0.0231	0.0227	0.0013	0.0001	0	0.0004	0	0.0023	4.856e-05	0.0024	0.0239	0.0011	0.0012	0.0009	0.0014	0.0232	0.0010	0.0010	0.0197	0.0184	0.0012	0	6.539e-05	0	0.0010	0	0	1.47e-05	0.0024	0.0232	0.0	0.91255	D	0.048	0.48594	D	0.51	0.37313	P	0.336	0.42263	B	0.000372	0.45194	D	0.186350	0.999328	0.46670	D	2.25	0.63811	M	-0.82	0.74053	T	-2.65	0.56787	D	0.93	0.93487	-0.1307	0.79385	T	0.445	0.78130	T	10	0.012598813	0.00270	T	.	.	.	0.452	0.75211	.	.	0.893026235512	0.89197	0.5584153648609416	0.55768	0.279056390861	0.30382	0.553429543972	0.46341	T	0.801588	0.94947	D	-0.283243	0.10327	T	-0.160711	0.58288	T	0.0735802314253366	0.09145	T	0.878412	0.59357	D	0.48058102	0.65935	0.56858534	0.75023	0.5398673	0.69390	0.6039507	0.76982	-4.508	0.30993	T	0.1452352143613039	0.16656	0.161	0.35602	B	.;.	.;.	3.669444	0.52172	23.2	0.99699520252934004	0.80522	0.94711	0.62067	D	AEFBI	.	.	.	0.403352317745619	0.61608	4.364049	0.461272630612188	0.65446	4.824594	0.999999999733192	0.74766	0.497415	0.19182	0	0.563428	0.19063	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.7	5.7	0.88690	5.853000	0.69232	8.710000	0.78133	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.924000	0.46004	0.0:0.0:1.0:0.0	19.844	0.96698	367	0.84523	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.015152	0.05263	4879.83	33	chr11	36593525	.	G	A	4879.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.77;DP=1065;ExcessHet=0.119;FS=6.568;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.74;ReadPosRankSum=0.682;SOR=0.919	GT:AD:DP:GQ:PL	0/1:99,85:184:99:2326,0,2774	17	0	2	0
chr11	46373045	46373045	G	A	exonic	DGKZ	.	nonsynonymous SNV	DGKZ:NM_001199268:exon13:c.G1201A:p.A401T,DGKZ:NM_001199266:exon14:c.G1270A:p.A424T,DGKZ:NM_001199267:exon14:c.G1267A:p.A423T,DGKZ:NM_003646:exon14:c.G1270A:p.A424T,DGKZ:NM_201532:exon14:c.G1318A:p.A440T,DGKZ:NM_201533:exon14:c.G1282A:p.A428T,DGKZ:NM_001105540:exon15:c.G1834A:p.A612T	.	417	1102	2	1	0	4	0.00181159	.	.	.	1465488	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.133	0.0224790397337	8.2e-05	0.000199681	0.0002	0	0	0	0	0.0001	0	0.0003	7.76e-05	12	154602	rs141331800	0.0002	0.0002	0.0002	0.0002	0.0005	0.0002	0.0001	0.0002	0.0002	0.0002	0.0002	0	0	0	0.0005	0.0002	0.0002	0.0002	0.0003	0.0003	0.0003	0.0002	0.0004	0.0002	0.0002	0.0003	0.0003	0.0001	0	0.0003	0	0.0002	0	0	0.0004	0.0005	0.0002	0.012	0.55530	D	0.008	0.67890	D	0.485	0.36856	P	0.065	0.27321	B	0.000044	0.53742	D	0.121499	0.998673	0.81001	D	0.835	0.21042	L	2.46	0.22881	T	-0.64	0.18670	N	0.421	0.46555	-1.0228	0.22802	T	0.052	0.21960	T	10	0.119769156	0.22673	T	0.022479	0.45373	T	0.133	0.36157	.	.	0.45212351173	0.44835	0.5720260080858557	0.57130	1.0684435865	0.76718	0.514246106148	0.40817	T	0.134802	0.46626	T	-0.332113	0.05953	T	-0.422685	0.30769	T	0.0771503632933973	0.09619	T	0.968503	0.88585	D	0.085999645	0.19972	0.13140245	0.31554	0.085999645	0.19972	0.13140245	0.31553	-10.163	0.75111	D	.	.	0.090	0.20391	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.599108	0.50823	23.0	0.99475165594927251	0.66579	0.99191	0.92574	D	AEFGBI	0.798618	0.72511	D	-0.0716119576665944	0.38640	2.266305	-0.0631017123394781	0.36929	2.155502	0.999999999990962	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	4.15	4.15	0.47978	8.129000	0.89477	8.517000	0.77410	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.034000	0.13613	0.0:0.0:1.0:0.0	16.996	0.86242	37	0.98026	.;.;Diacylglycerol kinase, catalytic domain;.;.;.;.;Diacylglycerol kinase, catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	2474.83	43	chr11	46373045	.	G	A	2474.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.82;DP=1096;ExcessHet=0.119;FS=4.121;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=59.72;MQRankSum=-0.189;QD=12.96;ReadPosRankSum=0.004;SOR=0.515	GT:AD:DP:GQ:PL	0/1:47,42:89:99:1127,0,1303	17	0	2	0
chr11	48130511	48130511	C	G	exonic	PTPRJ	.	nonsynonymous SNV	PTPRJ:NM_001098503:exon8:c.C1410G:p.I470M,PTPRJ:NM_002843:exon8:c.C1410G:p.I470M	Colon cancer, somatic	0	1506	15	0	1	16	0.0049554	.	.	.	3207171	PTPRJ-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.221	0.0704267908221	0.0008	0.000399361	0.0009	9.614e-05	0.0002	0	0	0.0009	0.0033	0.0029	0.000815	126	154602	rs141853869	0.0008	0.0008	0.0007	0.0009	0.0052	0.0007	0.0007	0.0037	0.0033	2.991e-05	0.0004	0.0033	0.0001	7.489e-05	0.0052	0.0006	0.0011	0.0030	0.0006	0.0006	0.0006	0.0005	0.0025	0.0005	0.0004	0.0014	0.0011	0.0003	0	0.0002	0.0026	0	0.0003	0	0.0007	0.0009	0.0025	0.007	0.68238	D	0.007	0.69154	D	0.991	0.64070	D	0.927	0.66185	D	.	.	.	.	1	0.19072	N	2.205	0.62170	M	0.35	0.58029	T	-1.6	0.47852	N	0.573	0.59901	-0.6627	0.62157	T	0.263	0.63458	T	9	0.025517017	0.00744	T	0.070427	0.71001	D	0.221	0.51721	.	.	0.55973633643	0.55634	0.5413254697788727	0.54057	0.827406979319	0.67474	0.340228527784	0.16473	T	0.097963	0.55259	T	-0.374165	0.03389	T	-0.314542	0.43169	T	0.0932946162053477	0.11603	T	0.636336	0.25328	T	0.10300454	0.24344	0.124236524	0.29947	0.11606378	0.27381	0.14157389	0.33708	-4.93	0.39486	T	.	.	0.126	0.31980	B	.;.;.;.	.;.;.;.	0.608153	0.09765	6.533	0.98577963343857589	0.43206	0.26124	0.22902	N	AEFGBI	0.153363	0.27820	N	-0.458090945984254	0.23467	1.26038	-0.695823800056109	0.17065	0.9056831	0.999990151226676	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.71	-4.16	0.03606	-0.753000	0.04897	.	.	-0.826000	0.02916	0.108000	0.22953	0.000000	0.08366	0.001000	0.02609	0.0:0.6009:0.0:0.3991	13.514	0.60989	137	0.94565	Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003033	0.000000	0.001359	0.002924	0.000000	0.017241	0.003086	0.000000	0.05263	2308.83	35	chr11	48130511	.	C	G	2308.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.28;DP=807;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.05;ReadPosRankSum=0.097;SOR=0.685	GT:AD:DP:GQ:PL	0/1:59,41:100:99:1060,0,1437	17	0	2	0
chr11	54603375	54603375	G	T	exonic	OR4C46	.	nonsynonymous SNV	OR4C46:NM_001004703:exon1:c.C624A:p.N208K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	.	2.737e-06	2.736e-06	4.084e-06	1.375e-06	2.236e-05	6.4e-07	4.3e-07	7.2e-07	2e-07	0	2.236e-05	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	0.28772	T	0.243	0.24193	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.22	0.37052	T	-2.53	0.54864	D	0.208	0.23125	.	.	.	.	.	.	.	0.11588934	0.21847	T	.	.	.	.	.	.	.	.	.	0.9084473673679309	0.90817	.	.	.	.	.	0.011388	0.10166	T	.	.	.	.	.	.	.	.	.	0.683432	0.29175	T	.	.	.	.	.	.	.	.	-6.664	0.51539	T	.	.	0.281	0.51445	B	.	.	1.925695	0.24457	16.40	.	.	.	.	.	.	0.053921	0.09758	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.941000	0.04035	.	.	0.241000	0.18245	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1461.33	41	chr11	54603375	.	G	T	1461.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.13;DP=1497;ExcessHet=0;FS=1.313;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.04;MQRankSum=0.562;QD=9.49;ReadPosRankSum=0.566;SOR=0.816	GT:AD:DP:GQ:PL	0/1:99,55:154:99:1475,0,2622	18	0	1	0
chr11	56375950	56375950	A	0	exonic	OR8U1;OR8U8	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4211	775.27	278	chr11	56375950	.	A	*	775.27	.	AC=16;AF=0.421;AN=38;BaseQRankSum=5.68;DP=4836;ExcessHet=38.2876;FS=6.913;InbreedingCoeff=-0.9009;MLEAC=16;MLEAF=0.421;MQ=59.99;MQRankSum=0;QD=0.17;ReadPosRankSum=0.109;SOR=1.269	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:192,66:258:99:0|1:56375918_A_G:2193,0,7860:56375918	3	0	16	0
chr11	56375951	56375951	T	0	exonic	OR8U1;OR8U8	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4444	490.26	278	chr11	56375951	.	T	*	490.26	.	AC=16;AF=0.444;AN=36;BaseQRankSum=4.1;DP=4828;ExcessHet=38.2876;FS=6.951;InbreedingCoeff=-0.9487;MLEAC=16;MLEAF=0.444;MQ=59.99;MQRankSum=0;QD=0.11;ReadPosRankSum=0.061;SOR=1.245	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:192,66:258:99:0|1:56375918_A_G:2193,0,7860:56375918	2	0	16	1
chr11	56375953	56375953	A	0	exonic	OR8U1;OR8U8	.	.	.	.	429	642	47	0	404	451	0.0353118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4444	797.75	278	chr11	56375953	.	A	*	797.75	.	AC=16;AF=0.444;AN=36;BaseQRankSum=3.15;DP=4825;ExcessHet=38.2876;FS=6.913;InbreedingCoeff=-0.9487;MLEAC=16;MLEAF=0.444;MQ=59.99;MQRankSum=0;QD=0.18;ReadPosRankSum=0.371;SOR=1.28	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:192,66:258:99:0|1:56375918_A_G:2193,0,7860:56375918	2	0	16	1
chr11	57309310	57309310	C	T	exonic	TNKS1BP1	.	nonsynonymous SNV	TNKS1BP1:NM_033396:exon6:c.G3401A:p.G1134D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.0493578206327	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1014811700	6.841e-07	6.84e-07	1.361e-06	0	2.987e-05	0	0	.	.	2.987e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.34095	T	0.049	0.48336	D	0.944	0.53183	P	0.646	0.52296	P	0.016520	0.27959	N	0.249736	1	0.08975	N	2.56	0.74772	M	1.08	0.39401	T	-1.05	0.27463	N	0.259	0.29313	-0.9787	0.35299	T	0.129	0.43867	T	10	0.14856064	0.28130	T	0.049358	0.63776	D	0.137	0.36984	0.448	0.50793	0.593829253334	0.59061	0.3452728707068146	0.34441	0.440892115314	0.44086	0.292768567801	0.09326	T	0.015105	0.12732	T	-0.265412	0.12274	T	-0.437495	0.29089	T	0.40715429186821	0.29211	T	0.717128	0.32987	T	0.06616845	0.14211	0.07634612	0.16900	0.06616845	0.14210	0.07634612	0.16900	-3.252	0.13126	T	.	.	0.130	0.27968	B	.;.	.;.	2.809172	0.36980	20.4	0.98970574020710633	0.49520	0.14200	0.18276	N	AEFDBCI	0.065393	0.12753	N	-0.132323126491467	0.35990	2.074361	-0.270271001560419	0.29083	1.626583	0.999988103134603	0.51787	0.706548	0.73137	0	0.643519	0.57511	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.88	3.97	0.45241	0.850000	0.27389	1.107000	0.24123	0.599000	0.40250	0.002000	0.15269	0.001000	0.17328	0.949000	0.49496	0.1657:0.5824:0.1607:0.0912	3.836	0.08406	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	.	.	.	.	.	.	.	.	0.02632	2312.33	33	chr11	57309310	.	C	T	2312.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.109;DP=1002;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.42;ReadPosRankSum=0.094;SOR=0.661	GT:AD:DP:GQ:PL	0/1:129,93:222:99:2326,0,3429	18	0	1	0
chr11	57712035	57712035	C	A	exonic	MED19	.	nonsynonymous SNV	MED19:NM_001317078:exon1:c.G145T:p.A49S,MED19:NM_153450:exon1:c.G145T:p.A49S	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.00511960050775	.	0.000998403	0.0024	0	0	0	0	0.0038	0.0076	0.0022	0.000718	111	154602	rs199862897	0.0036	0.0035	0.0036	0.0036	0.0043	0.0035	0.0035	0.0042	0.0042	0.0005	0.0012	4.047e-05	5.725e-05	0.0017	0.0032	0.0043	0.0022	0.0011	0.0027	0.0027	0.0028	0.0025	0.0042	0.0024	0.0024	0.0038	0.0036	0.0008	0	0.0037	0	0	0.0018	0.0034	0.0042	0.0028	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	0.003949	0.34294	N	0.314029	0.925736	0.27185	N	.	.	.	.	.	.	.	.	.	.	.	-1.0185	0.24204	T	0.052	0.22269	T	9	0.006569475	0.00149	T	0.00512	0.13001	T	0.012	0.01476	.	.	0.082315109003	0.07666	.	.	0.425041072685	0.42916	0.579456925392	0.50009	T	.	.	.	-0.57363	0.00211	T	-0.596489	0.13107	T	0.00998608098987356	0.00133	T	0.750425	0.37198	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	1.146126	0.15336	11.77	0.80564318796584633	0.13262	0.92037	0.54805	D	ALL	0.300700	0.40942	N	-0.7595252279939	0.14376	0.7155984	-0.662207444625267	0.17910	0.9543856	0.99999999999638	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	5.03	2.73	0.31266	1.509000	0.35387	0.264000	0.16579	0.549000	0.26987	0.997000	0.40164	0.013000	0.20296	0.043000	0.14563	0.0:0.7441:0.0:0.2559	7.200	0.25051	333	0.86326	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1008.33	34	chr11	57712035	.	C	A	1008.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.781;DP=733;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.3;ReadPosRankSum=0.508;SOR=0.72	GT:AD:DP:GQ:PL	0/1:45,37:82:99:1022,0,1328	18	0	1	0
chr11	58712821	58712821	G	T	exonic	GLYAT	.	nonsynonymous SNV	GLYAT:NM_005838:exon4:c.C255A:p.N85K,GLYAT:NM_201648:exon4:c.C255A:p.N85K	.	10	1504	8	0	0	8	0.00265252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.00641304071729	.	0.000399361	0.0015	0.0004	0.0010	0	0.0011	0.0023	0	0.0004	0.0012742	197	154602	rs137908036	0.0016	0.0016	0.0017	0.0015	0.0026	0.0015	0.0015	0.0018	0.0018	0.0003	0.0009	0.0002	0	0.0012	0.0026	0.0019	0.0014	0.0003	0.0012	0.0012	0.0012	0.0011	0.0019	0.0010	0.0010	0.0016	0.0015	0.0005	0	0.0007	0	0	0.0011	0	0.0019	0.0033	0.0002	1.0	0.00964	T	1.0	0.03056	T	0.009	0.15093	B	0.038	0.23361	B	0.060675	0.22230	N	0.513957	0.992447	0.23881	N	0.92	0.23413	L	2.38	0.15843	T	-1.82	0.42763	N	0.383	0.46180	-0.9663	0.37954	T	0.019	0.07939	T	10	0.0150876045	0.00317	T	0.006413	0.16870	T	0.041	0.10877	0.529	0.63560	0.203808441222	0.19973	0.18301394953461203	0.18220	0.0199914739455	0.01959	0.577368021011	0.49715	T	0.036045	0.23955	T	-0.686869	0.00044	T	-0.766201	0.02895	T	0.00243172802049241	0.00025	T	0.390061	0.09662	T	0.0658546	0.14116	0.06314419	0.12465	0.0658546	0.14115	0.06314419	0.12465	-2.792	0.08110	T	.	.	0.128	0.30103	B	.;.;.;.	.;.;.;.	0.187650	0.05743	2.187	0.097825764299607765	0.00108	0.06412	0.12416	N	AEFI	0.377562	0.46129	N	-1.1409239168054	0.05931	0.2716914	-1.077985922553	0.08134	0.3986475	1.70090071504786E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.76	0.433	0.15747	-0.237000	0.09007	-3.768000	0.02550	-0.148000	0.12190	0.033000	0.20612	0.000000	0.08366	0.034000	0.13613	0.412:0.0:0.4063:0.1817	3.240	0.06378	649	0.63102	Glycine N-acyltransferase, N-terminal;Glycine N-acyltransferase, N-terminal;Glycine N-acyltransferase, N-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1779.33	33	chr11	58712821	.	G	T	1779.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.33;DP=735;ExcessHet=0;FS=1.574;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.63;ReadPosRankSum=1.37;SOR=0.498	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:60,47:107:99:0|1:58712821_G_T:1793,0,2336:58712821	18	0	1	0
chr11	58712822	58712822	T	G	exonic	GLYAT	.	nonsynonymous SNV	GLYAT:NM_005838:exon4:c.A254C:p.N85T,GLYAT:NM_201648:exon4:c.A254C:p.N85T	.	10	1504	8	0	0	8	0.00265252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.00450410921073	.	0.000399361	0.0015	0.0004	0.0010	0	0.0011	0.0023	0	0.0004	0.0012742	197	154602	rs142339923	0.0016	0.0016	0.0017	0.0015	0.0026	0.0015	0.0015	0.0018	0.0018	0.0003	0.0009	0.0002	0	0.0012	0.0026	0.0019	0.0014	0.0003	0.0012	0.0012	0.0012	0.0012	0.0019	0.0010	0.0010	0.0016	0.0015	0.0005	0	0.0007	0	0	0.0012	0	0.0019	0.0033	0.0002	0.32	0.13566	T	0.497	0.11299	T	0.08	0.24543	B	0.156	0.34472	B	0.060675	0.22230	N	0.513957	0.99804	0.22380	N	2.51	0.73131	M	2.28	0.17271	T	-3.0	0.62343	D	0.353	0.41162	-1.0080	0.27541	T	0.037	0.16160	T	10	0.017341107	0.00370	T	0.004504	0.11063	T	0.045	0.12272	.	.	0.335661160332	0.33175	0.13596285544382625	0.13520	0.0235427775543	0.02386	0.538153648376	0.44185	T	0.072855	0.34555	T	-0.645537	0.00077	T	-0.70683	0.05460	T	0.014763194032938	0.00309	T	0.543646	0.18539	T	0.10039069	0.23703	0.08561488	0.19779	0.10039069	0.23703	0.08561488	0.19779	-3.67	0.18876	T	.	.	0.125	0.26825	B	.;.;.;.	.;.;.;.	1.706761	0.21738	15.33	0.91411372871746632	0.20678	0.06203	0.12189	N	AEFI	0.236675	0.35908	N	-0.681582902373241	0.16547	0.8440112	-0.694281930601866	0.17103	0.9078997	1.71002560367729E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.76	0.553	0.16424	0.866000	0.27608	1.132000	0.24334	0.665000	0.62972	0.052000	0.21487	0.019000	0.20708	0.032000	0.13371	0.0:0.1722:0.3291:0.4987	4.471	0.11131	649	0.63102	Glycine N-acyltransferase, N-terminal;Glycine N-acyltransferase, N-terminal;Glycine N-acyltransferase, 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	0.004028	0.005051	0.004076	0.000000	0.000000	0.000000	0.006098	0.007576	0.02632	1779.33	33	chr11	58712822	.	T	G	1779.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.22;DP=734;ExcessHet=0;FS=1.574;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.63;ReadPosRankSum=1.38;SOR=0.498	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:60,47:107:99:0|1:58712821_G_T:1793,0,2336:58712821	18	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	.	.	.	.	.	.	.	.	0.3421	5859.65	112	chr11	61740527	.	G	C	5859.65	.	AC=13;AF=0.342;AN=38;BaseQRankSum=-2.763;DP=1817;ExcessHet=17.0548;FS=279.402;InbreedingCoeff=-0.5834;MLEAC=13;MLEAF=0.342;MQ=60;MQRankSum=0;QD=4.33;ReadPosRankSum=0.839;SOR=12.095	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,20:75:99:0|1:61740527_G_C:277,0,1433:61740527	6	0	13	0
chr11	61740531	61740531	T	C	exonic	DAGLA	.	nonsynonymous SNV	DAGLA:NM_006133:exon18:c.T1922C:p.I641T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.403	0.0197228382319	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.054e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.34095	T	0.015	0.61642	D	0.948	0.53620	P	0.588	0.50402	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.7	0.43825	L	1.82	0.25018	T	-2.3	0.51157	N	0.794	0.79022	-1.0707	0.09260	T	0.080	0.31675	T	10	0.8145296	0.80704	D	0.019723	0.42154	T	0.403	0.71636	0.74	0.87232	0.236619781664	0.23270	0.7000053541781993	0.69941	0.918852446908	0.71372	0.869591116905	0.92510	D	0.336126	0.70567	T	0.210662	0.74892	D	0.0648253	0.74565	D	0.952781975269318	0.63873	D	0.952105	0.81652	D	0.31849626	0.54512	0.2169086	0.46336	0.31849626	0.54512	0.2169086	0.46335	-9.563	0.71251	D	.	.	0.611	0.69337	P	.	.	4.584081	0.72443	25.8	0.99816410860115734	0.89973	0.98810	0.87149	D	AEFBI	0.685886	0.64774	D	0.421747977381816	0.62620	4.480836	0.433105891452527	0.63640	4.601745	0.999999987493739	0.74766	0.67177	0.52595	0	0.55458	0.17659	0	0.702456	0.68683	0	0.683762	0.67416	0	.	.	4.41	4.41	0.52588	6.166000	0.71739	6.033000	0.52942	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	13.945	0.63586	745	0.52414	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	7196.89	114	chr11	61740531	.	T	C	7196.89	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-1.001;DP=1904;ExcessHet=31.086;FS=256.929;InbreedingCoeff=-0.8097;MLEAC=17;MLEAF=0.447;MQ=60;MQRankSum=0;QD=4.37;ReadPosRankSum=0.515;SOR=12.508	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:52,20:72:99:0|1:61740527_G_C:285,0,1398:61740527	2	0	17	0
chr11	62517930	62517930	C	T	exonic	AHNAK	.	nonsynonymous SNV	AHNAK:NM_001346445:exon5:c.G16487A:p.G5496E,AHNAK:NM_001346446:exon5:c.G16487A:p.G5496E,AHNAK:NM_001620:exon5:c.G16487A:p.G5496E	.	433	1067	22	0	0	22	0.0102041	.	.	.	712936	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.107	0.0103937668529	0.0023	0.00159744	0.0026	0.0003	0.0016	0	0.0002	0.0035	0.0033	0.0031	0.0024191	374	154602	rs141151380	0.0020	0.0020	0.0018	0.0021	0.0102	0.0019	0.0019	0.0081	0.0074	0.0002	0.0015	0.0246	0	0.0002	0.0102	0.0014	0.0034	0.0039	0.0019	0.0019	0.0017	0.0020	0.0025	0.0017	0.0016	0.0016	0.0015	0.0004	0	0.0018	0.0256	0	9.413e-05	0.0102	0.0019	0.0024	0.0025	0.185	0.21550	T	0.04	0.50809	D	1.0	0.90584	D	0.988	0.77976	D	0.108070	0.19543	U	0.354781	0.999839	0.28527	N	1.355	0.33814	L	5.61	0.00817	T	-3.2	0.64710	D	0.243	0.27435	-0.8671	0.50746	T	0.007	0.02244	T	10	0.003341198	0.00058	T	0.010394	0.26871	T	0.107	0.30369	.	.	0.0884992946249	0.08302	0.1402540612639722	0.13948	0.222732914866	0.24812	0.285223901272	0.08231	T	0.460282	0.79753	T	-0.529974	0.00384	T	-0.536783	0.18613	T	0.0316999647067759	0.02258	T	0.633437	0.24778	T	0.19884504	0.41802	0.28104064	0.54083	0.19884504	0.41802	0.28104064	0.54082	-3.575	0.17496	T	.	.	0.165	0.36416	B	.	.	1.696724	0.21614	15.28	0.98743082779192959	0.45542	0.07244	0.13268	N	AEFBI	.	.	.	-0.00891160328353724	0.41451	2.479601	-0.0700399340449222	0.36634	2.134554	0.999216643973066	0.38775	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	5.0	3.87	0.43823	0.812000	0.26869	.	.	0.589000	0.31548	0.000000	0.06391	0.056000	0.21938	0.949000	0.49496	0.0:0.8612:0.0:0.1388	12.325	0.54331	217	0.91564	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007049	0.000000	0.006793	0.005848	0.050000	0.008621	0.018293	0.000000	0.02632	2548.33	34	chr11	62517930	.	C	T	2548.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.06;DP=1020;ExcessHet=0;FS=0.57;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.73;ReadPosRankSum=-1.351;SOR=0.762	GT:AD:DP:GQ:PL	0/1:81,92:173:99:2562,0,2253	18	0	1	0
chr11	62520286	62520286	T	A	exonic	AHNAK	.	nonsynonymous SNV	AHNAK:NM_001346445:exon5:c.A14131T:p.M4711L,AHNAK:NM_001346446:exon5:c.A14131T:p.M4711L,AHNAK:NM_001620:exon5:c.A14131T:p.M4711L	.	425	1091	6	0	0	6	0.00274223	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.0187139357774	0.0006	0.000599042	0.0006	9.614e-05	0.0003	0	0	0.0010	0.0011	0.0004	0.0006986	108	154602	rs144063659	0.0007	0.0007	0.0006	0.0007	0.0130	0.0006	0.0006	0.0106	0.0098	0.0007	0.0006	0.0081	0	0	0.0130	0.0005	0.0012	0.0003	0.0008	0.0008	0.0007	0.0008	0.0008	0.0006	0.0006	0.0005	0.0005	0.0002	0	0.0005	0.0110	0	0	0.0103	0.0007	0.0029	0.0008	0.143	0.25355	T	0.066	0.44501	T	0.067	0.23653	B	0.12	0.32230	B	0.000089	0.51296	D	0.164825	0.82533	0.81001	D	1.69	0.43327	L	5.11	0.01224	T	-2.0	0.46146	N	0.335	0.37613	-1.0097	0.27012	T	0.010	0.03765	T	10	0.0061821043	0.00139	T	0.018714	0.40862	T	0.140	0.37593	0.299	0.26522	0.0297737177859	0.01360	0.08164732033709399	0.08099	0.0674943754929	0.07548	0.469551414251	0.34618	T	0.237379	0.60506	T	-0.359742	0.04145	T	-0.372553	0.36592	T	0.0368839580526113	0.03135	T	0.818618	0.47570	T	0.31320494	0.54061	0.25820267	0.51549	0.31320494	0.54061	0.25820267	0.51548	-7.979	0.60927	D	.	.	0.342	0.56011	A	.	.	1.637962	0.20906	14.96	0.90756559973766815	0.20006	0.96680	0.70368	D	AEFBI	.	.	.	-0.0966656513080991	0.37538	2.185379	0.00276148323149442	0.39845	2.368625	0.991478506150432	0.32501	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	5.16	5.16	0.70563	2.185000	0.42215	.	.	0.634000	0.51959	0.993000	0.37899	0.999000	0.35428	0.920000	0.45560	0.0:0.0:0.0:1.0	13.237	0.59402	219	0.91485	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009514	0.000000	0.010870	0.036885	0.050000	0.017241	0.000000	0.003788	0.02632	4252.33	34	chr11	62520286	.	T	A	4252.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.102;DP=1455;ExcessHet=0;FS=1.279;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.47;ReadPosRankSum=-0.161;SOR=0.786	GT:AD:DP:GQ:PL	0/1:178,163:341:99:4266,0,4866	18	0	1	0
chr11	62616672	62616672	G	C	exonic	B3GAT3	.	nonsynonymous SNV	B3GAT3:NM_001288722:exon4:c.C743G:p.P248R,B3GAT3:NM_001288723:exon4:c.C743G:p.P248R,B3GAT3:NM_012200:exon4:c.C743G:p.P248R,B3GAT3:NM_001288721:exon5:c.C722G:p.P241R	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	1310045	Larsen-like_syndrome,_B3GAT3_type|not_provided	MONDO:MONDO:0009511,MedGen:C3278404,OMIM:245600,Orphanet:284139|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.627	0.0785654289707	.	.	4.967e-05	0	0	0	0	7.536e-05	0	6.06e-05	3.88e-05	6	154602	rs751979169	1.3e-05	1.3e-05	8.167e-06	1.788e-05	1.529e-05	8.31e-06	6.7e-06	9.31e-06	7.61e-06	0	0	0	0	0	0	1.529e-05	1.656e-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	0.049	0.42199	D	0.003	0.83351	D	0.587	0.38961	P	0.445	0.45921	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.935	0.23595	L	-1.17	0.78199	T	-7.3	0.94484	D	0.834	0.84401	-0.2889	0.75295	T	0.493	0.80776	T	10	0.9046594	0.89830	D	0.078565	0.73033	D	0.627	0.85615	0.681	0.81885	0.973653754471	0.97337	0.7481094641902565	0.74756	0.658817819501	0.58771	0.680214285851	0.64298	T	0.291169	0.66393	T	0.0679787	0.60602	T	0.0401662	0.72938	D	0.503653824329376	0.32763	D	0.918408	0.70674	D	0.7463848	0.80659	0.71103597	0.82953	0.7463848	0.80660	0.71103597	0.82954	-6.192	0.47858	T	0.21772002889049247	0.29307	0.175	0.38245	B	.;.;.	.;.;.	4.478336	0.69849	25.4	0.99811374690896892	0.89531	0.99373	0.95182	D	AEFGBI	0.943448	0.94930	D	0.534250777963145	0.69131	5.313435	0.596656107007567	0.74698	6.18172	0.999999999994245	0.74766	0.706548	0.73137	0	0.643519	0.57511	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.31	5.31	0.75063	9.922000	0.98774	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.881000	0.42162	0.0:0.0:1.0:0.0	16.474	0.83970	198	0.92335	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	972.33	76	chr11	62616672	.	G	C	972.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.187;DP=1144;ExcessHet=0;FS=11.386;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.53;ReadPosRankSum=-1.331;SOR=0.68	GT:AD:DP:GQ:PL	0/1:61,41:102:99:986,0,1867	18	0	1	0
chr11	62791933	62791933	G	A	exonic	TMEM223	.	nonsynonymous SNV	TMEM223:NM_001080501:exon1:c.C62T:p.T21I	.	411	1101	9	0	1	10	0.00407056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.0205811171077	0.0008	0.00119808	0.0015	0.0002	0.0022	0	0	0.0022	0.0057	0.0005	0.0009185	142	154602	rs201573295	0.0009	0.0009	0.0009	0.0009	0.0170	0.0009	0.0008	0.0142	0.0131	0.0013	0.0016	0.0081	0	7.816e-05	0.0170	0.0007	0.0016	0.0007	0.0009	0.0009	0.0008	0.0010	0.0010	0.0008	0.0008	0.0008	0.0007	0.0003	0	0.0010	0.0104	0	0	0.0034	0.0010	0.0019	0.0008	0.482	0.08891	T	0.41	0.14633	T	0.085	0.24868	B	0.022	0.19653	B	0.073828	0.02280	N	2.027670	1	0.08975	N	0.55	0.14455	N	0.97	0.42502	T	-1.41	0.34795	N	0.221	0.25745	-1.0740	0.08556	T	0.052	0.22192	T	9	0.0054481626	0.00120	T	0.020581	0.43203	T	0.018	0.03083	.	.	0.0138822411134	0.00435	.	.	0.0258765225282	0.02640	0.625331044197	0.56483	T	0.029284	0.21018	T	-0.57373	0.00210	T	-0.621528	0.11066	T	0.000439379622085349	0.00004	T	0.324967	0.06659	T	0.025714694	0.01542	0.030363865	0.01484	0.025714694	0.01542	0.030363865	0.01483	-6.252	0.48341	T	.	.	0.125	0.26357	B	.;.	.;.	-0.549305	0.01715	0.126	0.73920160660950995	0.10504	0.05500	0.11387	N	ALL	0.072694	0.14517	N	-1.2040821369426	0.04940	0.2240497	-1.29970926051756	0.04435	0.2091864	1.0	0.98316	0.468429	0.09910	2	0.504199	0.08210	0	0.504199	0.09095	0	0.372554	0.06265	0	.	.	5.94	-7.35	0.01275	-0.480000	0.06639	.	.	-0.672000	0.04293	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3837:0.32:0.1988:0.0975	2.675	0.04763	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	0.016211	0.010309	0.021858	0.032353	0.050000	0.017241	0.003086	0.003788	0.02632	1180.33	34	chr11	62791933	.	G	A	1180.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.476;DP=700;ExcessHet=0;FS=1.034;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.67;ReadPosRankSum=1.32;SOR=0.527	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:29,31:60:99:0|1:62791913_T_C:1194,0,1075:62791913	18	0	1	0
chr11	63290238	63290238	C	T	exonic	SLC22A10	.	nonsynonymous SNV	SLC22A10:NM_001039752:exon1:c.C73T:p.L25F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00343814914755	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.299	0.14546	T	0.498	0.11263	T	0.009	0.15093	B	0.008	0.13708	B	0.670784	0.10343	N	0.836159	1	0.08975	N	0.585	0.15399	N	0.6	0.53731	T	-1.06	0.27669	N	0.111	0.09772	-1.0334	0.19363	T	0.070	0.28609	T	10	0.042034864	0.02914	T	0.003438	0.07755	T	0.027	0.05988	0.359	0.36222	0.0884992946249	0.08302	0.34639545789419457	0.34553	0.0155235919736	0.01479	0.325473725796	0.14249	T	0.004242	0.03650	T	-0.264077	0.12426	T	-0.617105	0.11413	T	0.986176431179047	0.76962	D	0.288571	0.05217	T	0.03839796	0.05108	0.03959984	0.04088	0.03839796	0.05108	0.03959984	0.04088	-4.392	0.29448	T	.	.	0.098	0.16363	B	.	.	-1.318392	0.00423	0.008	0.40667526190809317	0.02885	0.00529	0.02453	N	AEFBCI	0.062766	0.12086	N	-1.57802451807214	0.01378	0.06005529	-1.67294110990565	0.01262	0.05688687	0.996999245436295	0.35182	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.89	-3.69	0.04162	-5.163000	0.00171	-20.000000	0.00162	-0.584000	0.04686	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.1616:0.2773:0.0:0.561	4.736	0.12364	794	0.45591	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	128.4	88	chr11	63290238	.	C	T	128.4	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-2.449;DP=1721;ExcessHet=0.119;FS=111.978;InbreedingCoeff=-0.223;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=0.86;ReadPosRankSum=-0.727;SOR=9.301	GT:AD:DP:GQ:PL	0/1:56,21:85:99:127,0,1113	8	0	2	9
chr11	65641112	65641112	C	T	exonic	SIPA1	.	nonsynonymous SNV	SIPA1:NM_006747:exon2:c.C191T:p.T64M,SIPA1:NM_153253:exon2:c.C191T:p.T64M	.	410	1106	6	0	0	6	0.00270514	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238	0.556506037117	0.0006	0.000798722	0.0009	0.0003	0.0005	0	0.0009	0.0011	0.0014	0.0014	0.0007633	118	154602	rs200828887	0.0007	0.0007	0.0007	0.0007	0.0050	0.0007	0.0007	0.0036	0.0031	0.0002	0.0004	0.0002	0	0.0004	0.0050	0.0007	0.0010	0.0008	0.0006	0.0006	0.0007	0.0006	0.0010	0.0005	0.0005	0.0007	0.0007	0.0004	0	0.0001	0	0	0.0002	0.0102	0.0009	0.0009	0.0010	0.005	0.63226	D	0.013	0.63109	D	0.798	0.47902	P	0.197	0.43183	B	0.253200	0.15466	U	0.428407	1	0.08975	N	1.79	0.46772	L	-1.61	0.82254	D	-1.47	0.79829	N	0.262	0.31702	-0.3300	0.74133	T	0.464	0.79290	T	10	0.051036388	0.04923	T	0.556506	0.95933	D	0.238	0.54217	.	.	0.845282700075	0.84380	0.3157718032726202	0.31490	0.902148392747	0.70677	0.816763341427	0.84532	D	0.125064	0.45051	T	-0.255413	0.13442	T	-0.200258	0.54622	T	0.0148980658144745	0.00317	T	0.677032	0.28590	T	0.05558332	0.10820	0.07435434	0.16256	0.05558332	0.10820	0.07435434	0.16256	-6.257	0.48381	T	.	.	0.102	0.21653	B	.;.;.;.	.;.;.;.	3.772668	0.54193	23.5	0.99471782627480054	0.66365	0.17463	0.19848	N	AEFDGBCI	0.301580	0.41006	N	0.11061042244404	0.46958	2.928272	0.105169481324792	0.44812	2.755814	0.99999999637473	0.74766	0.722319	0.85440	0	0.52208	0.09955	0	0.658983	0.55881	0	0.735409	0.98432	0	.	.	5.38	5.38	0.77279	0.679000	0.24971	1.378000	0.26011	0.599000	0.40250	0.001000	0.13787	0.002000	0.18203	0.986000	0.61781	0.0:1.0:0.0:0.0	14.608	0.68093	274	0.89249	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006061	0.005155	0.005450	0.005882	0.000000	0.000000	0.015244	0.000000	0.02632	852.33	33	chr11	65641112	.	C	T	852.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.32;DP=679;ExcessHet=0;FS=1.007;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.21;ReadPosRankSum=0.651;SOR=0.54	GT:AD:DP:GQ:PL	0/1:29,31:60:99:866,0,752	18	0	1	0
chr11	66863811	66863811	C	T	exonic	PC	.	nonsynonymous SNV	PC:NM_022172:exon10:c.G1331A:p.S444N,PC:NM_000920:exon11:c.G1331A:p.S444N,PC:NM_001040716:exon12:c.G1331A:p.S444N	Pyruvate carboxylase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.340	0.0403761480499	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.526	0.07746	T	0.513	0.10821	T	0.001	0.07471	B	0.006	0.12133	B	0.000002	0.62929	D	0.096468	0.999867	0.50061	D	0.27	0.09956	N	-1.49	0.81235	T	0.25	0.04456	N	0.597	0.61596	-0.7183	0.59546	T	0.281	0.65280	T	10	0.371042	0.53477	T	0.040376	0.59342	D	0.340	0.66202	0.353	0.35246	0.417919123248	0.41407	.	.	0.828852337507	0.67540	0.812464594841	0.83870	D	0.306455	0.67866	T	-0.0390994	0.46083	T	-0.29394	0.45361	T	0.607176721096039	0.36687	D	0.939506	0.77539	D	0.16597606	0.36904	0.18945736	0.42293	0.16597606	0.36904	0.18945736	0.42293	-5.616	0.42938	T	0.0686599878140657	0.02511	0.139	0.30370	B	.;.;.;.;.	.;.;.;.;.	2.999539	0.40076	21.1	0.94205998637530508	0.24445	0.96446	0.69180	D	AEFDGBI	0.747219	0.68934	D	-0.12521594567028	0.36297	2.09615	0.0861861627878325	0.43852	2.678501	0.999999992442072	0.74766	0.718356	0.82227	0	0.588066	0.40923	0	0.570548	0.19454	0	0.655142	0.61905	0	.	.	5.54	5.54	0.82907	5.305000	0.65541	7.502000	0.59501	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.8337:0.1663:0.0	12.661	0.56177	297	0.88113	Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2353	1546.45	121	chr11	66863811	.	C	T	1546.45	.	AC=8;AF=0.235;AN=34;BaseQRankSum=-3.71;DP=1734;ExcessHet=4.0268;FS=173.681;InbreedingCoeff=-0.3104;MLEAC=9;MLEAF=0.265;MQ=60;MQRankSum=0;QD=1.43;ReadPosRankSum=1.63;SOR=11.827	GT:AD:DP:GQ:PL	0/1:90,54:144:99:267,0,1554	9	0	8	2
chr11	67441820	67441820	C	G	exonic	CORO1B	.	nonsynonymous SNV	CORO1B:NM_020441:exon4:c.G367C:p.E123Q,CORO1B:NM_001018070:exon5:c.G367C:p.E123Q	.	374	1129	17	2	0	21	0.00921457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.0444039617384	0.0010	0.000199681	0.0013	0.0005	0.0009	0	0	0.0020	0.0023	0.0002	0.0011902	184	154602	rs145707942	0.0012	0.0012	0.0011	0.0012	0.0234	0.0011	0.0011	0.0202	0.0190	0.0008	0.0015	0.0094	0	5.72e-05	0.0234	0.0009	0.0026	0.0006	0.0011	0.0011	0.0011	0.0010	0.0014	0.0009	0.0009	0.0010	0.0009	0.0004	0	0.0014	0.0066	0	0	0.0204	0.0012	0.0052	0.0002	0.039	0.42487	D	0.082	0.45961	T	0.627	0.40110	P	0.288	0.40614	B	0.001648	0.38382	N	0.000000	0.999998	0.58761	D	1.4	0.35362	L	0.08	0.61559	T	-2.39	0.55339	N	0.255	0.33030	-0.6694	0.61856	T	0.194	0.54681	T	10	0.010311604	0.00230	T	0.044404	0.61472	D	0.121	0.33580	.	.	0.664120544419	0.66130	0.2968442600386641	0.29597	0.988996760639	0.74003	0.515059351921	0.40932	T	0.194067	0.54973	T	-0.377789	0.03217	T	-0.350823	0.39112	T	0.0186743929616995	0.00580	T	0.978802	0.93255	D	0.21497856	0.43918	0.12088789	0.29170	0.21497856	0.43918	0.12088789	0.29169	-9.684	0.71998	D	.	.	0.127	0.33273	B	.;.;.;.	.;.;.;.	4.141246	0.62042	24.4	0.99761134971433219	0.85091	0.93366	0.58024	D	AEFGBCI	0.895544	0.83567	D	0.0251099959070321	0.42998	2.601544	0.0660695217039148	0.42855	2.599541	0.999999999990971	0.74766	0.645754	0.44609	0	0.696144	0.67643	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.46	4.46	0.53567	4.950000	0.63305	5.937000	0.51416	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.710000	0.34452	0.0:1.0:0.0:0.0	16.898	0.85972	662	0.61715	WD40-repeat-containing domain;WD40-repeat-containing domain;WD40-repeat-containing domain;WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.025680	0.015152	0.033967	0.040936	0.000000	0.043103	0.009146	0.003788	0.02632	1382.33	36	chr11	67441820	.	C	G	1382.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.9;DP=852;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.34;ReadPosRankSum=-0.882;SOR=0.674	GT:AD:DP:GQ:PL	0/1:54,58:112:99:1396,0,1549	18	0	1	0
chr11	67608412	67608412	C	G	exonic	NDUFV1	.	nonsynonymous SNV	NDUFV1:NM_001166102:exon2:c.C62G:p.T21S,NDUFV1:NM_007103:exon2:c.C89G:p.T30S	Mitochondrial complex I deficiency, Autosomal recessive, X-linked dominant, Mitochondrial	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.249	0.0237339634623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.202	0.21634	T	0.231	0.25438	T	0.005	0.12996	B	0.007	0.16460	B	0.000081	0.52346	D	0.167753	0.999951	0.81001	D	1.735	0.44892	L	-1.19	0.78427	T	-1.01	0.48850	N	0.342	0.40465	-0.4870	0.69115	T	0.348	0.71289	T	10	0.3319496	0.50409	T	0.023734	0.46713	T	0.249	0.55752	0.257	0.19845	0.822129434029	0.82045	0.6979377297507748	0.69734	0.238803893762	0.26431	0.763441562653	0.76443	T	0.245562	0.61488	T	-0.078465	0.39963	T	-0.350486	0.39149	T	0.744090855121613	0.42959	D	0.776122	0.40827	T	0.107709534	0.25468	0.062265858	0.12156	0.107709534	0.25468	0.062265858	0.12155	-6.651	0.51440	T	.	.	0.082	0.26576	B	.;.;.;.;.;.	.;.;.;.;.;.	3.411859	0.47334	22.4	0.98490803181232456	0.42096	0.97411	0.74579	D	AEFBI	0.809988	0.73335	D	0.0583570156422493	0.44526	2.725182	0.196330027643671	0.49646	3.165261	0.999999985050494	0.74766	0.732398	0.92422	0	0.685571	0.66316	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.77	3.84	0.43422	5.647000	0.67597	4.850000	0.45366	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.9063:0.0:0.0937	11.086	0.47306	774	0.48577	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2143	556.75	153	chr11	67608412	.	C	G	556.75	.	AC=6;AF=0.214;AN=28;BaseQRankSum=-4.434;DP=2846;ExcessHet=2.0135;FS=131.701;InbreedingCoeff=-0.3119;MLEAC=8;MLEAF=0.286;MQ=60;MQRankSum=0;QD=0.54;ReadPosRankSum=2.15;SOR=11.518	GT:AD:DP:GQ:PL	0/1:145,45:190:99:126,0,2888	8	0	6	5
chr11	69070460	69070460	C	T	exonic	TPCN2	.	nonsynonymous SNV	TPCN2:NM_139075:exon9:c.C860T:p.A287V	.	415	1104	3	0	0	3	0.00135685	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.472	0.398838150141	0.0002	.	0.0001	0	0	0	0	0.0002	0	0.0002	9.7e-05	15	154602	rs147779433	7.47e-05	7.593e-05	6.411e-05	8.54e-05	0.0014	6.326e-05	5.883e-05	0.0007	0.0005	0	0	0.0010	0.0002	0	0.0014	3.06e-05	0.0002	0.0003	7.879e-05	7.874e-05	7.709e-05	8.057e-05	7.351e-05	4.494e-05	3.51e-05	2.847e-05	1.858e-05	0	0	0	0.0014	0	0	0.0034	7.351e-05	0.0005	0	0.215	0.19293	T	0.562	0.09052	T	0.746	0.52883	P	0.346	0.42645	B	0.000419	0.44736	D	0.187136	0.64155	0.32881	D	2.325	0.66631	M	-4.82	0.98198	D	-1.46	0.35792	N	0.351	0.62696	0.747	0.93752	D	0.863	0.95428	D	10	0.1601755	0.30077	T	0.398838	0.93352	D	0.472	0.76554	.	.	0.743129133944	0.74082	0.46878782644960176	0.46797	0.344598231681	0.36389	0.536858916283	0.44003	T	0.603804	0.87341	D	-0.0856825	0.38786	T	-0.059132	0.66393	T	0.0513368009011972	0.05732	T	0.953105	0.82105	D	0.11491674	0.27124	0.09586104	0.22752	0.11491674	0.27123	0.09586104	0.22752	-9.563	0.71251	D	.	.	0.088	0.17060	B	.;.;.;.	.;.;.;.	3.168066	0.42956	21.6	0.99022768193302657	0.50613	0.77153	0.37904	D	AEFGBI	0.189511	0.31676	N	-0.096072436725769	0.37565	2.187283	-0.0894964792464804	0.35823	2.077145	0.761241661575046	0.23514	0.651	0.46895	0	0.653731	0.59785	0	0.643519	0.47002	0	0.683762	0.67416	0	.	.	4.33	2.35	0.28166	1.285000	0.32866	2.660000	0.33874	0.597000	0.34315	0.991000	0.37257	1.000000	0.68203	0.981000	0.58702	0.0:0.8188:0.0:0.1812	9.821	0.40051	929	0.16858	Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.002924	0.000000	0.008621	0.000000	0.000000	0.02632	801.33	41	chr11	69070460	.	C	T	801.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.886;DP=830;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.35;ReadPosRankSum=0.908;SOR=0.753	GT:AD:DP:GQ:PL	0/1:55,41:96:99:815,0,1425	18	0	1	0
chr11	69296010	69296010	G	A	exonic	MYEOV	.	nonsynonymous SNV	MYEOV:NM_001293294:exon2:c.G386A:p.R129Q,MYEOV:NM_001293296:exon2:c.G386A:p.R129Q,MYEOV:NM_001300924:exon2:c.G386A:p.R129Q,MYEOV:NM_001293291:exon3:c.G560A:p.R187Q,MYEOV:NM_001300923:exon3:c.G386A:p.R129Q,MYEOV:NM_138768:exon3:c.G560A:p.R187Q	.	427	1086	8	1	0	10	0.00458295	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.00210690905787	.	0.00139776	0.0012	9.612e-05	0.0002	0	0	0.0001	0.0022	0.0079	0.0009896	153	154602	rs200177645	0.0006	0.0006	0.0003	0.0009	0.0087	0.0006	0.0005	0.0082	0.0080	5.974e-05	4.473e-05	0	0	0	0.0033	4.946e-05	0.0006	0.0087	0.0003	0.0003	0.0002	0.0005	0.0087	0.0002	0.0002	0.0066	0.0059	2.406e-05	0	0	0	0	0	0	8.821e-05	0	0.0087	.	.	.	.	.	.	0.006	0.13644	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0	0.06538	N	1.84	0.24841	T	-3.69	0.70432	D	0.059	0.03726	-1.0156	0.25143	T	0.028	0.11838	T	9	0.0037336946	0.00069	T	0.002107	0.03908	T	0.049	0.13647	0.265	0.21103	0.0138822411134	0.00435	0.022432533154522878	0.02195	0.0779199742432	0.08771	0.206845760345	0.00685	T	0.018351	0.14809	T	-0.710506	0.00032	T	-0.788242	0.02213	T	0.0127332898869277	0.00215	T	0.505949	0.15996	T	0.32971525	0.55448	0.16151944	0.37565	0.32971525	0.55448	0.16151944	0.37564	-4.488	0.30731	T	.	.	0.105	0.20117	B	.;.;.	.;.;.	0.517025	0.08858	5.637	0.44544677041443209	0.03432	0.00579	0.02613	N	AEFDBHCI	0.033071	0.03856	N	-1.22084020928438	0.04699	0.2126061	-1.31319988209973	0.04259	0.2004842	0.999999164441449	0.74766	0.50712	0.20391	0	0.681609	0.65952	0	0.602189	0.34648	0	0.635259	0.50027	0	.	.	1.71	-1.43	0.08418	-0.244000	0.08921	-0.405000	0.09385	-0.185000	0.09859	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5827:0.0:0.4173:0.0	5.010	0.13651	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	0.002518	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.007576	0.05263	3635.83	33	chr11	69296010	.	G	A	3635.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=4.9;DP=1792;ExcessHet=0.119;FS=3.333;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.99;ReadPosRankSum=0.765;SOR=0.912	GT:AD:DP:GQ:PL	0/1:70,55:125:99:1645,0,1855	17	0	2	0
chr11	73297063	73297063	C	T	exonic	P2RY6	.	nonsynonymous SNV	P2RY6:NM_001277208:exon2:c.C848T:p.P283L,P2RY6:NM_001277204:exon3:c.C545T:p.P182L,P2RY6:NM_001277206:exon3:c.C545T:p.P182L,P2RY6:NM_001277207:exon3:c.C545T:p.P182L,P2RY6:NM_176797:exon3:c.C545T:p.P182L,P2RY6:NM_001277205:exon4:c.C545T:p.P182L,P2RY6:NM_176796:exon4:c.C545T:p.P182L,P2RY6:NM_176798:exon4:c.C545T:p.P182L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.00867232483892	.	.	9.352e-05	0	0	0	0	0	0	0.0007	7.12e-05	11	154602	rs754709234	2.829e-05	3.078e-05	2.061e-05	3.604e-05	0.0003	2.105e-05	1.895e-05	0.0002	0.0002	2.987e-05	0	0	0	0	0	9.893e-06	3.316e-05	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.233	0.58626	T	0.321	0.51737	T	0.375	0.34209	B	0.094	0.30180	B	0.001698	0.38271	N	0.260319	0.999218	0.46353	D	1.09	0.27330	L	1.72	0.26588	T	-1.41	0.46503	N	0.412	0.47115	-1.0802	0.07310	T	0.041	0.17657	T	10	0.07942459	0.12776	T	0.008672	0.22903	T	0.061	0.17616	0.626	0.76141	0.591348262392	0.58811	0.37500987727446883	0.37414	0.528847580626	0.50448	0.447234630585	0.31567	T	0.092526	0.39022	T	-0.409188	0.02013	T	-0.476115	0.24860	T	0.0603960972414693	0.07231	T	0.861914	0.55630	D	0.07989346	0.18276	0.09676421	0.23005	0.07989346	0.18276	0.09676421	0.23005	-5.852	0.45025	T	.	.	0.286	0.56258	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	2.729475	0.35726	19.97	0.89301071391900544	0.18679	0.61836	0.31601	D	AEFBI	0.498468	0.53256	N	-0.450521235021549	0.23722	1.275894	-0.41590657418473	0.24530	1.343772	0.999999885865437	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	4.42	4.42	0.52775	1.541000	0.35732	7.476000	0.59206	0.549000	0.26987	0.004000	0.16614	0.947000	0.28924	0.634000	0.32262	0.0:1.0:0.0:0.0	16.551	0.84321	558	0.71484	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;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	.	.	.	.	.	.	.	.	0.02632	2277.33	33	chr11	73297063	.	C	T	2277.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.47;DP=801;ExcessHet=0;FS=3.767;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.51;ReadPosRankSum=1.35;SOR=1.018	GT:AD:DP:GQ:PL	0/1:79,78:157:99:2291,0,1988	18	0	1	0
chr11	76496253	76496253	C	G	exonic	EMSY	.	nonsynonymous SNV	EMSY:NM_001300943:exon9:c.C1150G:p.L384V,EMSY:NM_020193:exon9:c.C1147G:p.L383V,EMSY:NM_001300942:exon10:c.C1192G:p.L398V,EMSY:NM_001300944:exon10:c.C1192G:p.L398V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.251	0.00453261117237	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.56456	D	1.0	0.01155	T	0.997	0.70673	D	0.978	0.74104	D	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	0.895	0.22405	L	.	.	.	-0.65	0.18877	N	0.564	0.71765	-0.7531	0.57773	T	0.280	0.65159	T	9	0.24627647	0.41889	T	0.004533	0.11157	T	0.251	0.56024	0.179	0.08626	0.161926535498	0.15789	0.24888415373398984	0.24802	1.06807590383	0.76700	.	.	.	0.047385	0.27706	T	0.160681	0.70264	D	-0.00696975	0.69883	D	0.726653091053459	0.42037	D	0.973803	0.91380	D	0.17019881	0.37581	0.21170264	0.45610	0.17019881	0.37581	0.21170264	0.45609	-8.834	0.66622	D	.	.	0.174	0.48807	B	.;.;.;.;.;.	.;.;.;.;.;.	4.457012	0.69330	25.4	0.99597549711436872	0.73983	0.98681	0.85513	D	AEFGBI	0.752831	0.69321	D	0.6031989030994	0.73378	5.956139	0.660773827867368	0.79417	7.077691	0.999999997739998	0.74766	0.706548	0.73137	0	0.708844	0.79440	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.82	5.82	0.92740	7.156000	0.77041	7.656000	0.63963	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	20.109	0.97902	867	0.32089	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08824	170.3	139	chr11	76496253	.	C	G	170.3	.	AC=3;AF=0.088;AN=34;BaseQRankSum=-2.783;DP=2046;ExcessHet=0.3672;FS=176.329;InbreedingCoeff=-0.1218;MLEAC=3;MLEAF=0.088;MQ=60;MQRankSum=0;QD=0.42;ReadPosRankSum=0.479;SOR=11.387	GT:AD:DP:GQ:PL	0/1:93,41:138:35:35,0,1578	14	0	3	2
chr11	78889833	78889833	C	T	exonic	TENM4	.	nonsynonymous SNV	TENM4:NM_001098816:exon9:c.G1036A:p.A346T	Tremor, hereditary essential, 5, Autosomal dominant	417	1102	3	0	0	3	0.00135931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.678	0.132801239967	0.0002	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs369432996	2.501e-05	2.531e-05	2.679e-05	2.318e-05	0.0005	1.816e-05	1.607e-05	0.0001	7.633e-05	3.165e-05	0	0.0002	8.394e-05	0	0.0005	1.019e-05	0.0002	2.524e-05	1.315e-05	1.313e-05	1.285e-05	1.346e-05	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0.0003	0	0	0	1.47e-05	0	0	0.012	0.54683	D	0.003	0.76473	D	1.0	0.90584	D	0.99	0.78936	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.18	0.61292	M	-2.7	0.90509	D	-2.71	0.57762	D	0.805	0.80083	0.731	0.93555	D	0.824	0.94075	D	9	0.8195238	0.81166	D	0.132801	0.81515	D	0.678	0.88157	.	.	0.668374486945	0.66558	0.5461378954824204	0.54539	0.943796152927	0.72323	0.805409431458	0.82788	D	0.365732	0.73110	T	0.0510777	0.58481	T	0.135917	0.79279	D	0.607855677604675	0.36714	D	0.956971	0.83666	D	0.3648918	0.58205	0.3880544	0.63658	0.3648918	0.58205	0.3880544	0.63658	-8.898	0.67038	D	0.5952571549347345	0.66212	0.313	0.54012	B	.	.	5.203110	0.87293	29.2	0.99938145799997025	0.99698	0.98054	0.79209	D	AEFDBI	0.926286	0.90716	D	0.734995390043002	0.81926	7.637894	0.706333951431343	0.82860	7.872937	0.999999997948782	0.74766	0.553676	0.25195	0	0.563428	0.19063	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	4.81	4.81	0.61401	7.899000	0.85994	7.687000	0.65600	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.946000	0.48989	0.0:1.0:0.0:0.0	18.109	0.89458	936	0.14734	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	820.33	35	chr11	78889833	.	C	T	820.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.147;DP=733;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.55;ReadPosRankSum=-0.625;SOR=0.712	GT:AD:DP:GQ:PL	0/1:59,37:96:99:834,0,1475	18	0	1	0
chr11	93370164	93370164	C	T	exonic	DEUP1	.	nonsynonymous SNV	DEUP1:NM_181645:exon6:c.C524T:p.S175F	.	452	1047	20	3	0	26	0.0122642	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.183	.	0.0072	0.00339457	0.0102	0.0026	0.0103	0	0.0030	0.0116	0.0241	0.0167	0.0066881	1034	154602	rs34205920	0.0088	0.0090	0.0085	0.0090	0.0153	0.0086	0.0086	0.0146	0.0144	0.0012	0.0063	0.0171	0	0.0021	0.0065	0.0090	0.0093	0.0153	0.0066	0.0066	0.0070	0.0061	0.0143	0.0062	0.0061	0.0116	0.0106	0.0017	0.0461	0.0076	0.0164	0.0002	0.0019	0.0136	0.0089	0.0071	0.0143	0.005	0.78490	D	0.012	0.64786	D	0.999	0.77913	D	0.972	0.72692	D	0.000059	0.53742	D	0.081678	0.987964	0.40680	D	2.125	0.59049	M	1.94	0.22678	T	-2.91	0.62518	D	0.416	0.45615	-1.0156	0.25143	T	0.097	0.36496	T	10	0.008488923	0.00192	T	.	.	.	0.183	0.45592	.	.	0.643164361049	0.64021	0.39280954524381106	0.39195	0.17326477445	0.19515	0.562373280525	0.47602	T	0.162927	0.50778	T	-0.302329	0.08441	T	-0.195375	0.55084	T	0.0177573481128435	0.00505	T	0.913309	0.70392	D	0.55491143	0.70229	0.58325815	0.75838	0.55491143	0.70230	0.58325815	0.75839	-7.158	0.55179	T	.	.	0.243	0.53891	B	.;.;.;.	.;.;.;.	4.526798	0.71028	25.6	0.9979570481708312	0.88106	0.92133	0.55018	D	AEFDBI	0.520851	0.54554	D	0.66466072990148	0.77321	6.652248	0.655063634552734	0.78989	6.98842	0.780320994261746	0.23830	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.5	5.5	0.81386	3.471000	0.52871	7.543000	0.60123	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.413	0.90504	639	0.64210	Centrosomal protein Cep63/Deup1, N-terminal;Centrosomal protein Cep63/Deup1, N-terminal;Centrosomal protein Cep63/Deup1, N-terminal;Centrosomal protein Cep63/Deup1, N-terminal	C11orf54	Thyroid	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009586	0.000000	0.006793	0.002924	0.050000	0.017241	0.015337	0.011364	0.05263	2430.83	35	chr11	93370164	.	C	T	2430.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.343;DP=836;ExcessHet=0.119;FS=4.399;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.04;ReadPosRankSum=0.219;SOR=0.974	GT:AD:DP:GQ:PL	0/1:62,41:103:99:957,0,1560	17	0	2	0
chr11	94998559	94998559	G	A	exonic	KDM4D	.	nonsynonymous SNV	KDM4D:NM_018039:exon3:c.G1187A:p.R396Q	.	424	1092	6	0	0	6	0.00273973	.	.	.	3265360	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.019	0.00677372582591	7.7e-05	0.000399361	0.0002	0	0	0	0	0.0001	0.0011	0.0013	0.0002005	31	154602	rs200979184	0.0002	0.0002	0.0001	0.0002	0.0092	0.0001	0.0001	0.0072	0.0065	5.974e-05	6.708e-05	0	0	1.897e-05	0.0092	4.047e-05	0.0003	0.0012	0.0001	0.0001	7.71e-05	0.0001	0.0017	7.087e-05	5.744e-05	0.0008	0.0006	2.406e-05	0	0.0002	0	0	0	0	5.882e-05	0.0005	0.0017	0.595	0.05720	T	0.576	0.08624	T	0.847	0.46818	P	0.072	0.28043	B	0.007553	0.01172	N	2587.410000	1	0.08975	N	1.1	0.28011	L	1.68	0.27184	T	-0.26	0.11185	N	0.061	0.03502	-1.0318	0.19873	T	0.026	0.10998	T	10	0.011173248	0.00245	T	0.006774	0.17897	T	0.019	0.03383	.	.	0.19670166235	0.19296	0.11183981764065659	0.11112	0.884254116262	0.69901	0.303763061762	0.10964	T	0.05903	0.31006	T	-0.638452	0.00085	T	-0.730402	0.04310	T	0.012719099437714	0.00215	T	0.40026	0.10182	T	0.019128863	0.00438	0.022312364	0.00259	0.019128863	0.00438	0.022312364	0.00259	-4.216	0.26983	T	.	.	0.085	0.11172	B	.;.;.	.;.;.	-0.138839	0.03417	0.621	0.92096593265501114	0.21447	0.01566	0.05117	N	AEFDGBI	0.026961	0.02118	N	-1.08199454966329	0.06975	0.3226534	-1.19972545666616	0.05915	0.2832113	0.0104810926374121	0.12033	0.615465	0.37627	0	0.633656	0.55848	0	0.616094	0.41390	0	0.567892	0.33627	0	.	.	3.51	-0.582	0.11122	-1.219000	0.03083	-1.089000	0.06365	-1.582000	0.00918	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3503:0.204:0.4457:0.0	3.616	0.07620	944	0.12746	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006546	0.010101	0.008152	0.014620	0.000000	0.000000	0.000000	0.000000	0.02632	1800.33	33	chr11	94998559	.	G	A	1800.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.35;DP=894;ExcessHet=0;FS=4.912;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12;ReadPosRankSum=1.11;SOR=1.112	GT:AD:DP:GQ:PL	0/1:84,66:150:99:1814,0,2296	18	0	1	0
chr11	107806792	107806792	C	T	exonic	SLC35F2	.	nonsynonymous SNV	SLC35F2:NM_017515:exon4:c.G499A:p.A167T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.481	0.0463680383361	.	.	1.656e-05	0	0	0.0002	0	0	0	0	1.29e-05	2	154602	rs752339050	1.573e-05	1.573e-05	1.361e-05	1.788e-05	0.0003	1.048e-05	8.75e-06	6.094e-05	2.522e-05	0	0	0	5.038e-05	0	0.0003	1.529e-05	1.656e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.72154	D	0.008	0.67890	D	0.999	0.77913	D	0.97	0.72226	D	0.000000	0.84330	D	0.000000	0.996861	0.43468	D	2.93	0.84523	M	-0.35	0.68616	T	-2.66	0.56945	D	0.777	0.77978	-0.0391	0.81437	T	0.450	0.78449	T	10	0.91639817	0.91000	D	0.046368	0.62424	D	0.481	0.77142	0.808	0.92512	0.721310929208	0.71885	0.850495081082887	0.85011	0.598160458821	0.54985	0.625774741173	0.56546	T	0.331865	0.70189	T	0.0997797	0.64267	D	0.131252	0.78975	D	0.912651896476746	0.56864	D	0.920308	0.75104	D	0.85403275	0.87635	0.8163648	0.89307	0.85403275	0.87636	0.8163648	0.89307	-12.381	0.86657	D	.	.	0.927	0.84746	P	.;.;.	.;.;.	4.510870	0.70634	25.6	0.99782295065395799	0.86867	0.95160	0.63658	D	AEFBI	0.511081	0.53986	D	0.274355395249779	0.54851	3.649943	0.115455441614459	0.45338	2.798776	0.0549879949343988	0.14997	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.86	3.94	0.44807	4.396000	0.59445	4.691000	0.44365	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.325000	0.25087	0.1473:0.8526:0.0:0.0	14.540	0.67572	738	0.53389	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1381.33	46	chr11	107806792	.	C	T	1381.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.19;DP=893;ExcessHet=0;FS=2.85;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.27;ReadPosRankSum=0.146;SOR=0.93	GT:AD:DP:GQ:PL	0/1:109,58:167:99:1395,0,2741	18	0	1	0
chr11	108172504	108172504	G	A	exonic	NPAT	.	nonsynonymous SNV	NPAT:NM_001321307:exon13:c.C2480T:p.T827I,NPAT:NM_002519:exon13:c.C2480T:p.T827I	.	.	.	.	.	.	.	.	.	.	.	3129140	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.019	0.00610139723531	8.3e-05	.	6.628e-05	0	0	0	0	0.0001	0	0	7.76e-05	12	154602	rs372594394	4.446e-05	4.446e-05	4.492e-05	4.4e-05	0.0007	3.575e-05	3.257e-05	0.0002	0.0001	2.987e-05	8.944e-05	0	0	0	0.0007	4.407e-05	9.935e-05	1.159e-05	8.542e-05	8.537e-05	0.0001	5.381e-05	0.0001	4.957e-05	3.963e-05	6.803e-05	5.086e-05	2.414e-05	0	6.545e-05	0	0	0	0	0.0001	0.0010	0	0.192	0.20988	T	0.443	0.13215	T	0.001	0.07471	B	0.002	0.06944	B	0.183539	0.17038	N	0.613452	1	0.08975	N	1.39	0.34934	L	3.73	0.03982	T	-1.85	0.43334	N	0.03	0.00717	-0.9330	0.43695	T	0.010	0.03627	T	10	0.05923292	0.07087	T	0.006101	0.15964	T	0.019	0.03383	.	.	0.124217242631	0.12060	0.15779161136333986	0.15700	0.0509365600502	0.05596	0.277303516865	0.07119	T	0.06197	0.31793	T	-0.534167	0.00363	T	-0.779369	0.02472	T	0.0280128801091082	0.01690	T	0.564644	0.19916	T	0.0345475	0.03897	0.061849784	0.12010	0.0345475	0.03897	0.061849784	0.12010	-3.513	0.16614	T	.	.	0.081	0.08224	B	.	.	0.841434	0.12131	8.682	0.090111767880096394	0.00083	0.07502	0.13517	N	AEFGBI	0.041086	0.06198	N	-0.8344268324473	0.12436	0.6061902	-0.803169119311432	0.14420	0.7532847	0.0137454255298195	0.12505	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.83	2.53	0.29594	0.295000	0.18821	1.803000	0.28899	0.676000	0.76740	0.000000	0.06391	0.048000	0.21764	0.288000	0.24212	0.2807:0.0:0.5913:0.128	6.353	0.20588	115	0.95340	Protein NPAT, 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	.	.	.	.	.	.	.	.	0.02632	2189.33	33	chr11	108172504	.	G	A	2189.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.242;DP=772;ExcessHet=0;FS=1.407;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.59;ReadPosRankSum=-0.145;SOR=0.84	GT:AD:DP:GQ:PL	0/1:55,77:132:99:2203,0,1436	18	0	1	0
chr11	119116025	119116025	C	G	exonic	C2CD2L	.	nonsynonymous SNV	C2CD2L:NM_001382612:exon14:c.C1913G:p.A638G	.	.	.	.	.	.	.	.	0.0001	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.0120375693004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0012	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	0	0.0001	2.534e-05	0	0	0.0003	0.0003	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	60.42	91	chr11	119116025	.	C	G	60.42	.	AC=3;AF=0.1;AN=30;BaseQRankSum=-3.804;DP=1250;ExcessHet=0.3672;FS=100.253;InbreedingCoeff=-0.147;MLEAC=3;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.34;ReadPosRankSum=0.095;SOR=9.779	GT:AD:DP:GQ:PL	0/1:31,11:51:6:6,0,775	12	0	3	4
chr11	119188754	119188754	G	A	exonic	PDZD3	.	nonsynonymous SNV	PDZD3:NM_001168468:exon9:c.G1174A:p.V392M,PDZD3:NM_024791:exon9:c.G1132A:p.V378M	.	415	1105	2	0	0	2	0.000904159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.00758773273577	0.0022	0.00179712	0.0007	0.0070	0.0003	0	0	2.998e-05	0	6.057e-05	0.0006404	99	154602	rs138457857	0.0003	0.0003	0.0003	0.0002	0.0071	0.0002	0.0002	0.0064	0.0061	0.0071	0.0008	0	0	0	0.0005	3.417e-05	0.0008	5.797e-05	0.0024	0.0024	0.0024	0.0025	0.0075	0.0022	0.0021	0.0068	0.0066	0.0075	0	0.0031	0	0	0	0.0034	7.351e-05	0.0024	0	0.108	0.29554	T	0.115	0.36630	T	0.111	0.26235	B	0.006	0.16460	B	0.272818	0.03783	N	1.650410	1	0.08975	N	0.145	0.08828	N	1.56	0.73523	T	-0.35	0.13418	N	0.049	0.05929	-1.0392	0.17556	T	0.110	0.39675	T	10	0.0062500834	0.00141	T	0.007588	0.20139	T	0.007	0.00512	.	.	0.28722502521	0.28325	0.25168412177417304	0.25082	0.134525795389	0.15145	0.276849418879	0.07057	T	0.01845	0.14872	T	-0.609491	0.00128	T	-0.643422	0.09421	T	0.00136567950844182	0.00014	T	0.480552	0.14510	T	0.024369843	0.01261	0.035653263	0.02858	0.024369843	0.01261	0.035653263	0.02858	-5.165	0.38594	T	.	.	0.078	0.09868	B	.;.;.;.	.;.;.;.	0.118554	0.05166	1.684	0.89816913332025161	0.19127	0.04319	0.09874	N	AEFDBI	0.139298	0.26085	N	-1.35150717517069	0.03109	0.1383737	-1.38768867687502	0.03382	0.1576601	0.00211795922616294	0.09166	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.67	-3.85	0.03964	-0.098000	0.10993	-0.254000	0.10482	-0.678000	0.04252	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.233:0.3002:0.2616:0.2052	0.972	0.01328	319	0.87030	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.004076	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	2541.33	35	chr11	119188754	.	G	A	2541.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4;DP=901;ExcessHet=0;FS=9.721;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.34;ReadPosRankSum=0.672;SOR=1.308	GT:AD:DP:GQ:PL	0/1:112,94:206:99:2555,0,2703	18	0	1	0
chr11	119298451	119298451	C	T	exonic	CBL	.	nonsynonymous SNV	CBL:NM_005188:exon15:c.C2345T:p.P782L	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, Autosomal dominant	0	1519	3	0	0	3	0.000986518	.	.	.	48891	CBL-related_disorder|Noonan_syndrome_and_Noonan-related_syndrome|RASopathy|not_specified|not_provided|Cardiovascular_phenotype	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563,Orphanet:363972|MONDO:MONDO:0020297,MedGen:C5681679,Orphanet:98733|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391|MedGen:CN169374|MedGen:C3661900|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.271	0.0474887960306	0.0023	0.00219649	0.0007	0.0073	0.0005	0.0002	0	5.994e-05	0	0	0.0007244	112	154602	rs2229073	0.0004	0.0004	0.0004	0.0003	0.0076	0.0003	0.0003	0.0068	0.0065	0.0076	0.0011	0	0.0005	0	0.0005	0.0001	0.0010	3.478e-05	0.0026	0.0027	0.0026	0.0027	0.0080	0.0024	0.0023	0.0073	0.0070	0.0080	0	0.0033	0	0	0	0.0034	0.0001	0.0033	0.0002	0.001	0.78490	D	0.01	0.74150	D	0.993	0.65571	D	0.632	0.51815	P	0.000000	0.84330	D	0.052811	1	0.81001	D	1.965	0.53209	M	-1.35	0.80035	T	-2.39	0.52612	N	0.783	0.81261	-0.2475	0.76427	T	0.350	0.71431	T	10	0.005753964	0.00128	T	0.047489	0.62943	D	0.271	0.58633	.	.	0.914779128301	0.91391	0.505637641172727	0.50485	0.212166500798	0.23708	0.589475095272	0.51420	T	0.762289	0.93570	D	-0.239845	0.15368	T	-0.111888	0.62460	T	0.0420486456182277	0.04064	T	0.947205	0.79675	D	0.24501328	0.47456	0.24842174	0.50392	0.26479554	0.49548	0.23277397	0.48447	-6.697	0.51788	T	0.5904815405311906	0.65727	0.100	0.42506	B	.;.;.;.;.	.;.;.;.;.	4.311427	0.65908	24.9	0.99752820141582665	0.84382	0.95853	0.66434	D	AEFBI	0.341966	0.43828	N	0.425224270911372	0.62813	4.503553	0.456166120687671	0.65115	4.782993	0.999999998008929	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.59	5.59	0.84677	5.038000	0.63972	5.955000	0.51719	0.530000	0.24713	1.000000	0.71638	1.000000	0.68203	0.537000	0.29868	0.1411:0.8589:0.0:0.0	15.234	0.73106	727	0.54702	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002018	0.000000	0.004076	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	1267.33	33	chr11	119298451	.	C	T	1267.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.96;DP=722;ExcessHet=0;FS=0.777;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.2;ReadPosRankSum=0.081;SOR=0.542	GT:AD:DP:GQ:PL	0/1:48,48:96:99:1281,0,1196	18	0	1	0
chr11	123606675	123606675	A	G	exonic	GRAMD1B	.	nonsynonymous SNV	GRAMD1B:NM_001286564:exon10:c.A841G:p.I281V,GRAMD1B:NM_020716:exon10:c.A961G:p.I321V,GRAMD1B:NM_001286563:exon11:c.A982G:p.I328V,GRAMD1B:NM_001330396:exon11:c.A841G:p.I281V,GRAMD1B:NM_001367418:exon11:c.A1042G:p.I348V,GRAMD1B:NM_001367419:exon11:c.A1042G:p.I348V,GRAMD1B:NM_001367420:exon11:c.A1042G:p.I348V,GRAMD1B:NM_001367421:exon12:c.A1258G:p.I420V	.	433	1064	24	1	0	26	0.0120706	.	.	.	2809962	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.021	0.00961510552212	0.0006	0.00179712	0.0018	0	0	0	0	0.0017	0.0094	0.006	0.0015006	232	154602	rs191981781	0.0010	0.0011	0.0008	0.0013	0.0123	0.0010	0.0010	0.0100	0.0092	0.0001	0.0002	0.0186	0	0	0.0123	0.0003	0.0025	0.0052	0.0009	0.0009	0.0009	0.0009	0.0060	0.0008	0.0007	0.0043	0.0037	7.217e-05	0	0.0007	0.0159	0	0	0.0137	0.0004	0.0014	0.0060	0.607	0.06243	T	0.592	0.08654	T	0.0	0.02946	B	0.0	0.01387	B	0.019927	0.27150	N	0.428098	1	0.08975	N	.	.	.	2.03	0.28391	T	0.08	0.06026	N	0.104	0.11197	-1.0079	0.27572	T	0.031	0.13155	T	10	0.0061226487	0.00138	T	0.009615	0.25130	T	0.021	0.04004	.	.	0.043077524339	0.03247	0.1719730501957236	0.17117	0.305991248268	0.32896	0.398189902306	0.24816	T	0.001756	0.05765	T	-0.617935	0.00113	T	-0.659306	0.08313	T	0.0248547319038031	0.01253	T	0.857114	0.54640	D	0.024626387	0.01313	0.038432624	0.03710	0.024626387	0.01313	0.038432624	0.03709	-2.676	0.07103	T	.	.	0.059	0.00979	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	1.934568	0.24574	16.45	0.94048183895678528	0.24174	0.64600	0.32460	D	AEFBI	0.093052	0.18832	N	-0.589042774167135	0.19277	1.007591	-0.379683269647464	0.25603	1.409017	0.0222097322305338	0.13412	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.528226	0.09195	0	.	.	5.25	2.71	0.31092	2.542000	0.45403	4.496000	0.43591	0.756000	0.94297	1.000000	0.71638	0.999000	0.35428	0.817000	0.38496	0.7174:0.2826:0.0:0.0	11.592	0.50207	713	0.56348	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.010574	0.020202	0.005435	0.017544	0.000000	0.008621	0.015244	0.003788	0.02632	2695.33	39	chr11	123606675	.	A	G	2695.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.49;DP=1026;ExcessHet=0;FS=3.812;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.77;ReadPosRankSum=-0.317;SOR=0.95	GT:AD:DP:GQ:PL	0/1:118,111:229:99:2709,0,3116	18	0	1	0
chr11	125951818	125951818	C	A	exonic	VSIG10L2	.	nonsynonymous SNV	VSIG10L2:NM_001365077:exon6:c.C1240A:p.P414T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33627754	0.50770	T	.	.	.	.	.	.	.	.	.	0.43530290891344803	0.43447	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.493751	0.15260	T	0.05831838	0.11719	0.2122045	0.45681	0.05831838	0.11718	0.2122045	0.45680	-10.874	0.78962	D	.	.	0.518	0.65395	A	.	.	2.235486	0.28541	17.83	0.76421608201821101	0.11461	0.62061	0.31668	D	AEFDBCI	.	.	.	.	.	.	.	.	.	0.99983313821064	0.43792	0.056701	0.00814	0	0.063388	0.01293	0	0.074216	0.02223	0	0.062806	0.01542	0	0.157897	0.27912	4.88	2.94	0.33188	3.303000	0.51565	3.116000	0.36380	-0.214000	0.08267	0.892000	0.31242	0.583000	0.25631	0.021000	0.11733	0.0:0.7077:0.2923:0.0	13.885	0.63203	853	0.34956	Immunoglobulin-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	35.97	.	chr11	125951818	.	C	A	35.97	.	AC=2;AF=0.071;AN=28;DP=25;ExcessHet=0;FS=0;InbreedingCoeff=0.1836;MLEAC=2;MLEAF=0.071;MQ=60;QD=17.98;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	13	1	0	5
chr12	553246	553246	G	C	exonic	B4GALNT3	.	nonsynonymous SNV	B4GALNT3:NM_173593:exon14:c.G1323C:p.E441D	.	427	1038	55	2	0	59	0.0276347	.	.	.	702400	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.057	.	0.0059	0.00519169	0.0068	0.0022	0.0042	0	0.0005	0.0064	0.0079	0.0191	0.0065458	1012	154602	rs35419938	0.0063	0.0063	0.0059	0.0068	0.0229	0.0062	0.0062	0.0197	0.0185	0.0024	0.0040	0.0172	2.519e-05	0.0005	0.0229	0.0057	0.0076	0.0190	0.0051	0.0051	0.0051	0.0052	0.0174	0.0048	0.0047	0.0144	0.0133	0.0017	0	0.0040	0.0184	0	0.0007	0.0306	0.0069	0.0080	0.0174	0.17	0.28646	T	0.445	0.18449	T	0.001	0.22967	B	0.001	0.18140	B	0.054444	0.22724	N	0.513490	0.694362	0.33358	D	1.965	0.53209	M	3.47	0.33412	T	-0.71	0.20145	N	0.113	0.10056	-1.0298	0.20519	T	0.027	0.11485	T	10	0.003033489	0.00050	T	.	.	.	0.057	0.16321	0.061	0.00225	0.26547132957	0.26150	0.3320672336054664	0.33119	0.137519854837	0.15505	0.303518891335	0.10928	T	0.008035	0.10465	T	-0.55733	0.00263	T	-0.559063	0.16465	T	0.00424846492393013	0.00045	T	0.516848	0.17735	T	0.07017605	0.15436	0.050029136	0.07768	0.07017605	0.15436	0.050029136	0.07767	-4.023	0.24147	T	.	.	0.080	0.11220	B	.;.	.;.	0.637848	0.10061	6.812	0.98851990051414873	0.47305	0.06048	0.12017	N	AEFBI	0.067716	0.13326	N	-0.769882621636174	0.14100	0.6996357	-0.690678665284384	0.17193	0.9131054	0.993072403822061	0.33075	0.695654	0.57023	0	0.475579	0.06741	0	0.723109	0.80598	0	0.63947	0.58350	0	.	.	5.43	1.79	0.23992	0.007000	0.13074	0.008000	0.13396	0.676000	0.76740	0.008000	0.17931	0.003000	0.18671	0.309000	0.24713	0.2545:0.172:0.5735:0.0	4.755	0.12456	804	0.43891	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.020141	0.010101	0.019022	0.035088	0.050000	0.034483	0.018293	0.015152	0.02632	943.33	33	chr12	553246	.	G	C	943.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.732;DP=683;ExcessHet=0;FS=4.919;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=1.23;SOR=1.375	GT:AD:DP:GQ:PL	0/1:36,35:71:99:957,0,957	18	0	1	0
chr12	553529	553529	C	T	exonic	B4GALNT3	.	nonsynonymous SNV	B4GALNT3:NM_173593:exon14:c.C1606T:p.H536Y	.	410	1055	55	2	0	59	0.0272015	.	.	.	702401	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.102	.	0.0058	0.00519169	0.0068	0.0022	0.0042	0	0.0005	0.0064	0.0078	0.0191	0.0066429	1027	154602	rs151321644	0.0063	0.0063	0.0059	0.0068	0.0229	0.0062	0.0062	0.0197	0.0185	0.0024	0.0040	0.0172	2.519e-05	0.0005	0.0229	0.0057	0.0076	0.0190	0.0051	0.0051	0.0051	0.0052	0.0172	0.0048	0.0047	0.0142	0.0131	0.0017	0	0.0040	0.0184	0	0.0007	0.0306	0.0068	0.0080	0.0172	0.698	0.07163	T	0.151	0.35205	T	0.002	0.43260	B	0.001	0.32841	B	0.064754	0.02181	N	1.800440	1	0.08975	N	1.355	0.33814	L	3.47	0.32958	T	-1.58	0.42001	N	0.204	0.22614	-1.0050	0.28457	T	0.025	0.10910	T	10	0.0034027994	0.00060	T	.	.	.	0.102	0.29158	.	.	0.33340067248	0.32956	0.23042138291317035	0.22957	0.216515701183	0.24171	0.293155878782	0.09383	T	0.006203	0.17282	T	-0.508331	0.00513	T	-0.488679	0.23528	T	0.0223731037280573	0.00951	T	0.50185	0.15733	T	0.052662954	0.09854	0.04470011	0.05851	0.052662954	0.09853	0.04470011	0.05851	-4.482	0.30652	T	.	.	0.074	0.07650	B	.;.	.;.	2.071965	0.26352	17.09	0.71380471459127814	0.09609	0.41381	0.26644	N	AEFDGBCI	0.100164	0.20147	N	-0.81097235367886	0.13029	0.6390703	-0.773372746637339	0.15149	0.7952879	0.999988630867901	0.51787	0.718356	0.82227	0	0.491552	0.07993	0	0.570548	0.19454	0	0.620976	0.48614	0	.	.	5.47	3.57	0.40014	4.056000	0.57161	3.976000	0.40865	0.580000	0.29708	0.771000	0.29368	0.735000	0.26442	0.002000	0.04165	0.2924:0.6219:0.0:0.0858	6.671	0.22260	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	0.019637	0.010101	0.019022	0.035088	0.050000	0.034483	0.015244	0.015152	0.02632	1509.33	40	chr12	553529	.	C	T	1509.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.212;DP=1140;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.8;ReadPosRankSum=1.62;SOR=0.681	GT:AD:DP:GQ:PL	0/1:41,61:102:99:1523,0,1008	18	0	1	0
chr12	2679772	2679772	T	C	exonic	CACNA1C	.	nonsynonymous SNV	CACNA1C:NM_001129837:exon41:c.T5444C:p.V1815A,CACNA1C:NM_001129838:exon41:c.T5444C:p.V1815A,CACNA1C:NM_001129839:exon41:c.T5438C:p.V1813A,CACNA1C:NM_001129846:exon41:c.T5387C:p.V1796A,CACNA1C:NM_001167625:exon41:c.T5387C:p.V1796A,CACNA1C:NM_000719:exon42:c.T5420C:p.V1807A,CACNA1C:NM_001129829:exon42:c.T5543C:p.V1848A,CACNA1C:NM_001129830:exon42:c.T5420C:p.V1807A,CACNA1C:NM_001129833:exon42:c.T5477C:p.V1826A,CACNA1C:NM_001129834:exon42:c.T5477C:p.V1826A,CACNA1C:NM_001129835:exon42:c.T5477C:p.V1826A,CACNA1C:NM_001129836:exon42:c.T5471C:p.V1824A,CACNA1C:NM_001129840:exon42:c.T5420C:p.V1807A,CACNA1C:NM_001129841:exon42:c.T5420C:p.V1807A,CACNA1C:NM_001129842:exon42:c.T5420C:p.V1807A,CACNA1C:NM_001129843:exon42:c.T5420C:p.V1807A,CACNA1C:NM_001129844:exon42:c.T5411C:p.V1804A,CACNA1C:NM_001167623:exon42:c.T5420C:p.V1807A,CACNA1C:NM_001167624:exon42:c.T5420C:p.V1807A,CACNA1C:NM_001129831:exon43:c.T5504C:p.V1835A,CACNA1C:NM_001129832:exon43:c.T5480C:p.V1827A,CACNA1C:NM_001129827:exon44:c.T5564C:p.V1855A,CACNA1C:NM_199460:exon44:c.T5564C:p.V1855A	Brugada syndrome 3;Timothy syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.271	0.0805709828546	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.86	0.03741	T	0.69	0.09621	T	0.0	0.02946	B	0.0	0.04355	B	.	.	.	.	0.999788	0.20447	N	-1.7	0.00354	N	-3.72	0.95629	D	0.32	0.05217	N	0.083	0.12198	-0.4550	0.70234	T	0.501	0.81139	D	9	0.033830523	0.01570	T	0.080571	0.73490	D	0.271	0.58633	0.309	0.28128	0.240615537116	0.23683	0.3717506590059687	0.37089	0.228357691727	0.25387	0.3357462883	0.15800	T	9.84E-4	0.03887	T	-0.0964123	0.37019	T	-0.376266	0.36159	T	0.0267796627588227	0.01514	T	.	.	.	.	.	.	.	.	.	.	.	-2.279	0.04528	T	.	.	0.077	0.16973	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	2.506885	0.32374	19.02	0.82096813590510498	0.14017	0.02605	0.07176	N	AEFBI	0.040843	0.06131	N	-0.850625170966091	0.12034	0.5842019	-0.67085653258727	0.17692	0.9418178	0.957078990426814	0.28283	0.516011	0.20929	0	0.610034	0.51514	0	0.603688	0.36954	0	0.564101	0.26826	0	.	.	4.92	2.05	0.25860	4.134000	0.57751	3.215000	0.36822	-0.349000	0.05595	0.994000	0.38300	0.998000	0.33993	0.653000	0.32775	0.0:0.7376:0.0:0.2624	7.776	0.28199	866	0.32446	Voltage-gated calcium channel subunit alpha, C-terminal;.;.;.;.;.;.;.;.;.;.;.;.;.;.;Voltage-gated calcium channel subunit alpha, C-terminal;.;.;.;.;Voltage-gated calcium channel subunit alpha, C-terminal;.;Voltage-gated calcium channel subunit alpha, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1267.33	38	chr12	2679772	.	T	C	1267.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.581;DP=805;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.63;ReadPosRankSum=0.506;SOR=0.631	GT:AD:DP:GQ:PL	0/1:54,55:109:99:1281,0,1526	18	0	1	0
chr12	4591261	4591261	G	C	exonic	DYRK4	.	nonsynonymous SNV	DYRK4:NM_003845:exon3:c.G81C:p.K27N,DYRK4:NM_001371301:exon5:c.G426C:p.K142N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.0114393036777	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.479e-06	0.0002	5.452e-06	5.506e-06	1.16e-05	2.36e-06	1.7e-06	2.62e-06	1.69e-06	0	0	0	0	0	0	6.303e-06	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.314	0.13834	T	0.401	0.14961	T	0.346	0.33564	B	0.084	0.29270	B	0.121393	0.18998	N	0.456574	1	0.08975	N	1.725	0.44537	L	-0.08	0.63911	T	0.73	0.02068	N	0.144	0.14480	-0.9982	0.30423	T	0.134	0.44720	T	10	0.07988778	0.12903	T	0.011439	0.29067	T	0.029	0.06676	0.269	0.21735	0.558735321446	0.55534	0.18653166389102285	0.18571	0.09495456672	0.10722	0.417934507132	0.27553	T	9.22E-4	0.00478	T	-0.259265	0.12987	T	-0.610193	0.11969	T	0.123014807701111	0.14722	T	0.59544	0.22079	T	0.04078166	0.05886	0.040100157	0.04256	0.04078166	0.05886	0.040100157	0.04256	-4.202	0.26780	T	.	.	0.104	0.18869	B	.;.;.	.;.;.	0.165782	0.05554	2.014	0.79475724993608643	0.12759	0.01358	0.04650	N	AEFDBI	0.066344	0.12987	N	-1.06848562840135	0.07230	0.3352268	-1.19599880480459	0.05976	0.2863112	2.00585938924982E-4	0.05898	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	4.34	-2.7	0.05651	-0.445000	0.06918	0.067000	0.14209	-0.678000	0.04252	0.001000	0.13787	0.000000	0.08366	0.446000	0.27806	0.499:0.1481:0.3529:0.0	5.450	0.15851	834	0.38640	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3684	3193.35	94	chr12	4591261	.	G	C	3193.35	.	AC=14;AF=0.368;AN=38;BaseQRankSum=-1.805;DP=1547;ExcessHet=17.0548;FS=274.024;InbreedingCoeff=-0.5842;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=2.94;ReadPosRankSum=1.24;SOR=12.301	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:63,23:98:99:.:.:110,0,918:.	5	0	14	0
chr12	6390242	6390242	C	T	exonic	LTBR	.	nonsynonymous SNV	LTBR:NM_001270987:exon9:c.C875T:p.A292V,LTBR:NM_002342:exon9:c.C932T:p.A311V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.0520128914575	0.0018	0.00239617	0.0005	0.0052	8.648e-05	0	0	0	0	6.056e-05	0.0004398	68	154602	rs144755581	0.0002	0.0002	0.0002	0.0001	0.0055	0.0001	0.0001	0.0048	0.0046	0.0055	0.0004	0	0	0	0.0005	1.799e-06	0.0004	0	0.0015	0.0015	0.0016	0.0015	0.0053	0.0014	0.0013	0.0047	0.0045	0.0053	0	0.0005	0	0	0	0	2.941e-05	0.0029	0	0.024	0.47745	D	0.206	0.27056	T	0.02	0.18235	B	0.018	0.18489	B	.	.	.	.	1	0.08975	N	1.39	0.34934	L	-2.22	0.87038	D	-0.69	0.19720	N	0.051	0.08088	-0.7652	0.57121	T	0.281	0.65260	T	9	0.004599929	0.00096	T	0.052013	0.64898	D	0.056	0.15993	.	.	0.547470054201	0.54402	0.13114489378442432	0.13039	0.0845813052473	0.09552	0.238382264972	0.02646	T	0.157004	0.49941	T	-0.494889	0.00611	T	-0.483246	0.24101	T	0.00393867168454773	0.00042	T	0.747925	0.36851	T	0.019597633	0.00494	0.032653004	0.02033	0.019597633	0.00494	0.032653004	0.02033	-3.753	0.20849	T	.	.	0.077	0.07507	B	.;.;.	.;.;.	-0.500740	0.01864	0.151	0.95840465314002288	0.27963	0.05638	0.11549	N	AEFDBCI	0.239329	0.36131	N	-1.16602686833279	0.05522	0.2519224	-1.16647865197813	0.06477	0.3119083	0.99995026370088	0.48110	0.706548	0.73137	0	0.59043	0.45803	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	5.16	1.21	0.20240	-0.893000	0.04234	-0.079000	0.12201	-0.817000	0.03001	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2701:0.4981:0.1465:0.0853	3.520	0.07296	917	0.20147	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1625.33	39	chr12	6390242	.	C	T	1625.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.963;DP=766;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.7;ReadPosRankSum=-0.544;SOR=0.674	GT:AD:DP:GQ:PL	0/1:61,67:128:99:1639,0,1485	18	0	1	0
chr12	6563355	6563355	A	G	exonic	NOP2	.	nonsynonymous SNV	NOP2:NM_001033714:exon8:c.T836C:p.F279S,NOP2:NM_001258308:exon8:c.T848C:p.F283S,NOP2:NM_001258310:exon8:c.T836C:p.F279S,NOP2:NM_006170:exon8:c.T836C:p.F279S,NOP2:NM_001258309:exon9:c.T947C:p.F316S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.394	0.0960774077691	0.0005	0.000399361	0.0003	0.0033	0.0003	0	0	0	0	0	0.0001617	25	154602	rs371271025	3.517e-05	3.625e-05	3.288e-05	3.749e-05	0.0012	2.719e-05	2.458e-05	0.0009	0.0008	0.0012	7.004e-05	0	0	0	0.0003	9.038e-07	5e-05	1.191e-05	0.0004	0.0004	0.0004	0.0004	0.0015	0.0003	0.0003	0.0012	0.0011	0.0015	0	0	0	0	0	0	0	0	0	0.005	0.72154	D	0.001	0.83351	D	0.963	0.55692	D	0.839	0.60107	P	0.000000	0.84330	D	0.095093	0.999994	0.58761	D	3.815	0.95518	H	2.15	0.53088	T	-7.47	0.94958	D	0.947	0.95491	-0.3834	0.72545	T	0.310	0.68039	T	10	0.05065933	0.04832	T	0.096077	0.76540	D	0.394	0.70924	.	.	0.569349616842	0.56601	0.8027050470538345	0.80224	0.621508943027	0.56437	0.662841379642	0.61816	T	0.163014	0.51229	T	-0.0677456	0.41686	T	0.122648	0.78409	D	0.530395269393921	0.33749	D	0.89671	0.68017	D	0.8128076	0.84739	0.72397983	0.83698	0.8128076	0.84741	0.72397983	0.83699	-14.342	0.94115	D	.	.	0.726	0.75692	P	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.774299	0.77316	26.7	0.99834611878915835	0.91628	0.95881	0.66555	D	AEFDBHCI	0.706014	0.66121	D	0.637106568582146	0.75538	6.323489	0.556727113597388	0.71866	5.720667	0.998102154837009	0.36433	0.722319	0.85440	0	0.67197	0.64623	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.32	4.14	0.47821	4.742000	0.61798	7.784000	0.68736	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.7198:0.0:0.0:0.2802	9.574	0.38607	427	0.81056	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1577.33	33	chr12	6563355	.	A	G	1577.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.04;DP=734;ExcessHet=0;FS=0.794;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.02;ReadPosRankSum=-0.841;SOR=0.836	GT:AD:DP:GQ:PL	0/1:50,55:105:99:1591,0,1365	18	0	1	0
chr12	6960673	6960673	T	C	exonic	PTPN6	.	nonsynonymous SNV	PTPN6:NM_080549:exon15:c.T1684C:p.S562P	.	413	1106	3	0	0	3	0.0013544	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.00451738236384	0.0039	0.00119808	0.0026	0	0	0	0.0038	0.0060	0	0	0.0008085	125	154602	rs61753202	0.0032	0.0031	0.0034	0.0031	0.0037	0.0032	0.0031	0.0036	0.0036	0.0003	0.0005	0.0115	0	0.0007	0.0018	0.0037	0.0026	0.0001	0.0025	0.0025	0.0025	0.0026	0.0041	0.0023	0.0022	0.0037	0.0035	0.0006	0.0066	0.0009	0.0158	0	0.0006	0.0034	0.0041	0.0005	0.0004	0.056	0.38185	T	0.132	0.34477	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.54	0.13916	T	0.16	0.05217	N	0.092	0.07125	-0.9557	0.39970	T	0.013	0.04843	T	9	0.003281474	0.00056	T	0.004517	0.11125	T	0.014	0.01968	.	.	0.151262610727	0.14761	0.40991014041965795	0.40907	0.132070076647	0.14885	.	.	.	.	.	.	-0.718081	0.00028	T	-0.802745	0.01834	T	0.00257669018512048	0.00027	T	0.269473	0.04507	T	.	.	.	.	.	.	.	.	-3.584	0.17625	T	.	.	0.086	0.10787	B	.	.	0.514884	0.08836	5.616	0.95133415716562031	0.26247	0.00650	0.02830	N	AEFDGBHCI	0.036989	0.05017	N	-1.16373320992349	0.05557	0.2536646	-1.20818650675131	0.05778	0.2762427	0.999999754701873	0.74766	0.608966	0.35542	0	0.52208	0.09955	0	0.769059	0.98459	0	0.584449	0.35598	0	.	.	3.83	-1.22	0.09005	0.192000	0.16902	0.053000	0.14027	0.580000	0.29708	0.000000	0.06391	0.000000	0.08366	0.027000	0.12703	0.0:0.5285:0.0:0.4715	7.171	0.24895	466	0.78352	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	663.33	38	chr12	6960673	.	T	C	663.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.66;DP=710;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.06;ReadPosRankSum=-0.498;SOR=0.565	GT:AD:DP:GQ:PL	0/1:36,24:60:99:677,0,1116	18	0	1	0
chr12	7067724	7067724	G	A	exonic	C1S	.	nonsynonymous SNV	C1S:NM_001346850:exon9:c.G647A:p.R216H,C1S:NM_001734:exon10:c.G1148A:p.R383H,C1S:NM_201442:exon10:c.G1148A:p.R383H	C1s deficiency;Ehlers-Danlos syndrome, periodontal type, 2, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	725264	not_provided|C1S-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.047	.	0.0089	0.00938498	0.0027	0.0281	0.0010	0	0	0.0003	0.0011	0.0002	0.0025614	396	154602	rs20573	0.0008	0.0008	0.0009	0.0007	0.0258	0.0008	0.0007	0.0244	0.0238	0.0258	0.0016	0	0.0002	0	0.0010	5.846e-05	0.0021	0.0003	0.0071	0.0071	0.0072	0.0070	0.0246	0.0068	0.0066	0.0234	0.0228	0.0246	0	0.0024	0	0.0006	0	0	0.0002	0.0062	0	0.505	0.07619	T	0.415	0.14326	T	0.008	0.14655	B	0.009	0.14300	B	0.789059	0.09411	N	0.885577	1	0.08975	N	0.785	0.19527	N	-0.18	0.65747	T	-0.31	0.15379	N	0.034	0.07398	-1.0522	0.13790	T	0.044	0.18906	T	10	0.0048104525	0.00102	T	.	.	.	0.047	0.12962	.	.	0.372124015043	0.36827	0.4397990139553735	0.43896	0.274756508465	0.29960	0.173047304153	0.00045	T	0.051189	0.28809	T	-0.580612	0.00191	T	-0.585835	0.14030	T	0.00444739362888546	0.00047	T	0.618638	0.29103	T	0.077581376	0.17616	0.084087126	0.19317	0.10019102	0.23654	0.056747936	0.10193	-6.718	0.51946	T	0.13436395635468984	0.14505	0.060	0.01059	B	.;.;.;.;.	.;.;.;.;.	-0.421382	0.02134	0.204	0.29781702858135617	0.01597	0.01963	0.05953	N	AEFDGBI	0.385960	0.46650	N	-1.26718793455993	0.04077	0.1833432	-1.28442325694574	0.04641	0.2193546	0.999866027983675	0.44398	0.615465	0.37627	0	0.627178	0.54094	0	0.658983	0.55881	0	0.616125	0.45549	0	.	.	5.67	-4.41	0.03339	-0.410000	0.07214	-2.835000	0.03313	-0.103000	0.15852	0.000000	0.06391	0.000000	0.08366	0.701000	0.34172	0.5853:0.0887:0.326:0.0	11.123	0.47527	712	0.56465	Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001511	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	395.33	36	chr12	7067724	.	G	A	395.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.17;DP=626;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.63;ReadPosRankSum=-0.31;SOR=0.724	GT:AD:DP:GQ:PL	0/1:12,17:29:99:409,0,297	18	0	1	0
chr12	9832369	9832369	G	A	exonic	KLRF1	.	nonsynonymous SNV	KLRF1:NM_001291822:exon2:c.G139A:p.V47M,KLRF1:NM_001291823:exon2:c.G139A:p.V47M,KLRF1:NM_001366534:exon2:c.G139A:p.V47M,KLRF1:NM_016523:exon2:c.G139A:p.V47M	.	446	1012	61	3	0	67	0.0320421	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	.	0.0028	0.00738818	0.0077	0.0007	0.0068	0	0.0005	0.0049	0.0078	0.0301	0.0068175	1054	154602	rs146460124	0.0046	0.0047	0.0036	0.0056	0.0321	0.0045	0.0045	0.0311	0.0307	0.0007	0.0060	0.0077	7.582e-05	0.0003	0.0205	0.0027	0.0055	0.0321	0.0039	0.0039	0.0036	0.0042	0.0327	0.0036	0.0035	0.0285	0.0270	0.0009	0.0011	0.0060	0.0081	0.0002	0.0004	0.0102	0.0038	0.0057	0.0327	0.175	0.25768	T	0.191	0.49120	T	0.113	0.26349	B	0.033	0.22329	B	0.722462	0.06322	N	1.214770	1	0.08975	N	0.805	0.20218	L	0.4	0.57261	T	-1.72	0.40850	N	0.161	0.22228	-1.0634	0.10926	T	0.059	0.24612	T	9	0.0059431195	0.00133	T	.	.	.	0.025	0.05312	.	.	0.171388866994	0.16791	0.2775677312493388	0.27669	.	.	0.29831263423	0.10151	T	0.02985	0.21296	T	-0.585658	0.00178	T	-0.591036	0.13576	T	0.000816321794284554	0.00008	T	0.69743	0.30707	T	.	.	.	.	.	.	.	.	-4.949	0.36281	T	.	.	0.098	0.20038	B	.;.;.;.;.	.;.;.;.;.	0.062193	0.04727	1.359	0.08633522959055194	0.00071	0.00566	0.02572	N	AEFBI	0.044400	0.07140	N	-1.68846938339769	0.00883	0.03823578	-1.7559330760471	0.00911	0.04075757	6.07512311615335E-6	0.01202	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.04	-2.27	0.06458	-0.693000	0.05222	-0.056000	0.12484	-1.591000	0.00906	0.003000	0.16062	0.005000	0.19230	0.025000	0.12405	0.296:0.2805:0.4235:0.0	5.229	0.14730	900	0.24599	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.024194	0.010101	0.017663	0.020468	0.000000	0.025862	0.033742	0.034091	0.07895	2308.79	33	chr12	9832369	.	G	A	2308.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.118;DP=759;ExcessHet=0.3672;FS=1.085;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=11.37;ReadPosRankSum=0.652;SOR=0.793	GT:AD:DP:GQ:PL	0/1:23,37:60:99:910,0,505	16	0	3	0
chr12	10073351	10073351	G	A	exonic	CLEC1A	.	nonsynonymous SNV	CLEC1A:NM_001297749:exon3:c.C328T:p.R110C,CLEC1A:NM_001297748:exon4:c.C505T:p.R169C,CLEC1A:NM_001297751:exon5:c.C340T:p.R114C,CLEC1A:NM_016511:exon5:c.C604T:p.R202C,CLEC1A:NM_001297750:exon6:c.C340T:p.R114C	.	436	1084	2	0	0	2	0.000921659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.281	0.0210821801102	.	.	1.655e-05	0	8.728e-05	0	0	1.504e-05	0	0	1.29e-05	2	154602	rs774165401	1.574e-05	1.573e-05	1.77e-05	1.375e-05	8.951e-05	1.048e-05	8.75e-06	2.986e-05	1.805e-05	2.988e-05	8.951e-05	0	2.52e-05	0	0	1.259e-05	3.312e-05	1.16e-05	1.314e-05	1.313e-05	1.285e-05	1.345e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.057	0.61437	T	0.007	0.92824	D	0.977	0.90584	D	0.874	0.79672	P	0.000700	0.42383	D	0.107857	0.999759	0.49512	D	3.055	0.86842	M	2.1	0.19990	T	-6.0	0.89534	D	0.868	0.86511	-0.9567	0.39789	T	0.148	0.47380	T	10	0.873496	0.86627	D	0.021082	0.43792	T	0.281	0.59861	0.636	0.77251	0.491996647052	0.48833	0.5906447496430066	0.58994	0.255766087705	0.28164	0.563328504562	0.47737	T	0.045954	0.27278	T	0.0331593	0.56144	T	0.00749759	0.70820	D	0.955871939659119	0.64616	D	0.913009	0.68959	D	0.19270602	0.40950	0.22091553	0.46883	0.19270602	0.40950	0.22091553	0.46883	-9.683	0.71992	D	.	.	0.744	0.81728	P	.;.;.	.;.;.	4.812133	0.78289	26.9	0.99922132192087865	0.98852	0.89458	0.49935	D	AEFGBI	0.665698	0.63442	D	0.60448783708044	0.73457	5.969347	0.52836799420662	0.69908	5.427773	0.999658580113456	0.41424	0.562547	0.31514	0	0.59043	0.45803	0	0.573888	0.23631	0	0.635551	0.53088	0	.	.	5.4	5.4	0.77957	4.697000	0.61467	9.685000	0.81256	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.030000	0.13115	0.0:0.0:1.0:0.0	15.026	0.71331	923	0.18507	C-type lectin-like|C-type lectin-like|C-type lectin-like|Natural killer cell receptor-like, C-type lectin-like domain;C-type lectin-like|C-type lectin-like|C-type lectin-like|Natural killer cell receptor-like, C-type lectin-like domain;C-type lectin-like|C-type lectin-like|C-type lectin-like|Natural killer cell receptor-like, C-type lectin-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1009.33	33	chr12	10073351	.	G	A	1009.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.471;DP=728;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.97;ReadPosRankSum=-1.827;SOR=0.752	GT:AD:DP:GQ:PL	0/1:50,42:92:99:1023,0,1271	18	0	1	0
chr12	11353474	11353474	-	GGGACTTGTCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCTTGAGGTCTGTTGCCTCCTTGTTGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGGGGACCTTGGGGCTGGTTACCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATCGGGGACTTT	exonic	PRB1	.	nonframeshift insertion	PRB1:NM_001367912:exon7:c.1434_1435insAAAGTCCCCGATCTCCTCCAGGAAAGCCACAAGGACCACCCCCACAAGGAGGTAACCAGCCCCAAGGTCCCCCACCTCCTCCAGGAAAGCCACAAGGACCACCCCAACAAGGAGGCAACAGACCTCAAGGTCCCCCACCTCCAGGAAAGCCACAAGGACCACCCCCACAAGGAGACAAGTCCC:p.E479delinsKVPDLLQESHKDHPHKEVTSPKVPHLLQESHKDHPNKEATDLKVPHLQESHKDHPHKETSPE	.	531	945	7	0	39	46	0.00369004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0036	0.0055	0.0042	0.0054	0.0017	0.0025	0	0.0074	.	.	.	.	0.0047	0.0049	0.0045	0.0050	0.0662	0.0046	0.0046	0.0612	0.0593	0.0040	0.0065	0.0131	0.0662	0.0167	0.0024	0.0033	0.0074	0.0029	0	8.638e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	15923.7	37	chr12	11353474	.	C	CGGGACTTGTCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCTTGAGGTCTGTTGCCTCCTTGTTGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGGGGACCTTGGGGCTGGTTACCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATCGGGGACTTT	15923.7	.	AC=6;AF=0.25;AN=24;BaseQRankSum=1.66;DP=4060;ExcessHet=0;FS=2.46;InbreedingCoeff=0.6232;MLEAC=7;MLEAF=0.292;MQ=54.21;MQRankSum=-1.359;QD=17.21;ReadPosRankSum=0.621;SOR=0.641	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,64:84:99:.:.:5779,180,0:.	8	2	2	7
chr12	11393579	11393701	CTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCTTGAGGTTTGTTGCCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGAGGACCTTGAGGCTGGTTGC	-	exonic	PRB1;PRB2	.	nonframeshift deletion	PRB1:NM_001367912:exon3:c.377_499del:p.126_167del,PRB2:NM_006248:exon3:c.377_499del:p.G126_G166del	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.522e-05	0	0	0	0	0.0001	0	6.268e-05	.	.	.	.	0.0001	0.0001	8.063e-05	0.0002	0.0007	0.0001	9.539e-05	0.0002	0.0002	2.995e-05	8.992e-05	0.0033	0	5.645e-05	0.0007	3.7e-05	9.996e-05	0.0003	5.666e-05	4.886e-05	3.133e-05	8.374e-05	2.912e-05	2.651e-05	1.811e-05	.	.	2.912e-05	0	0	0.0020	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2617.29	96	chr12	11393578	.	TCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCTTGAGGTTTGTTGCCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGAGGACCTTGAGGCTGGTTGC	T	2617.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.16;DP=3298;ExcessHet=0;FS=3.481;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=53.03;MQRankSum=-0.786;QD=7.65;ReadPosRankSum=-2.871;SOR=0.795	GT:AD:DP:GQ:PL	0/1:164,178:342:99:2631,0,6530	18	0	1	0
chr12	39764776	39764776	G	C	exonic	SLC2A13	.	nonsynonymous SNV	SLC2A13:NM_052885:exon8:c.C1528G:p.L510V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.252	0.0443433292116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.747e-06	0.0002	4.1e-06	1.38e-06	3.612e-06	6.4e-07	4.3e-07	8.5e-07	5.7e-07	0	0	0	0	0	0	3.612e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	0.15201	T	0.462	0.12526	T	0.374	0.34192	B	0.326	0.41929	B	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-0.89	0.74793	T	-0.46	0.14978	N	0.564	0.58798	-0.6019	0.64739	T	0.322	0.69134	T	10	0.51726407	0.62438	D	0.044343	0.61442	D	0.252	0.56159	0.421	0.46365	0.695003275107	0.69237	0.8554796860303294	0.85510	0.415926434887	0.42235	0.617287814617	0.55346	T	0.14097	0.47579	T	0.161933	0.70380	D	-0.00517021	0.70000	D	0.952465236186981	0.63797	D	0.912409	0.68863	D	0.25600496	0.48637	0.19588253	0.43288	0.25600496	0.48637	0.19588253	0.43287	-8.267	0.62875	D	.	.	0.147	0.32493	B	.	.	3.372480	0.46612	22.3	0.9975783521054008	0.84772	0.94008	0.59836	D	AEFCI	0.740830	0.68496	D	0.145500679544335	0.48600	3.070197	0.293165215121814	0.55141	3.677321	0.998323112009773	0.36758	0.653281	0.48532	0	0.573888	0.26702	0	0.675528	0.61593	0	0.620846	0.47308	0	.	.	5.39	5.39	0.77615	4.252000	0.58574	11.595000	0.93433	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	19.172	0.93569	507	0.75469	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4444	3192.41	61	chr12	39764776	.	G	C	3192.41	.	AC=16;AF=0.444;AN=36;BaseQRankSum=-0.323;DP=1223;ExcessHet=28.6262;FS=348.508;InbreedingCoeff=-0.7653;MLEAC=16;MLEAF=0.444;MQ=60;MQRankSum=0;QD=3.27;ReadPosRankSum=0.863;SOR=12.249	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:29,23:52:99:.:.:169,0,453:.	2	0	16	1
chr12	40426604	40426604	C	T	exonic	MUC19	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00159744	0.0004	0	0	0.0103	0	0	0	0.0003	0.0001552	24	154602	rs28365245	0.0001	0.0001	0.0002	0.0001	0.0097	0.0001	0.0001	0.0083	0.0078	0	0	0	0.0097	3.657e-05	0	2.932e-05	0.0003	9.187e-05	0.0003	0.0003	0.0002	0.0004	0.0087	0.0002	0.0002	0.0067	0.0059	0	0	0	0	0.0087	0	0	1.47e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1218.33	33	chr12	40426604	.	C	T	1218.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.33;DP=761;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.46;ReadPosRankSum=1.59;SOR=0.749	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:34,32:66:99:0|1:40426601_C_T:1232,0,1323:40426601	18	0	1	0
chr12	40432454	40432454	A	T	exonic	MUC19	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.219	0.0029354004458	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.007e-06	1.368e-06	1.942e-06	0	0.0003	0	0	.	.	0	0	0	0	0	0.0003	0	0	0	6.565e-06	6.561e-06	1.285e-05	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	504.33	34	chr12	40432454	.	A	T	504.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.63;DP=631;ExcessHet=0;FS=5.225;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.63;ReadPosRankSum=-0.32;SOR=1.863	GT:AD:DP:GQ:PL	0/1:20,17:37:99:518,0,475	18	0	1	0
chr12	40485829	40485829	-	GCTGG	exonic	MUC19	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	967.29	1162	chr12	40485829	.	A	AGCTGG	967.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-5.904;DP=15818;ExcessHet=0;FS=2.095;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.24;MQRankSum=-26.58;QD=1.1;ReadPosRankSum=7.24;SOR=1.064	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:799,81:880:99:0|1:40485829_A_AGCTGG:981,0,32474:40485829	18	0	1	0
chr12	40485831	40485831	-	TCTCAGCTGGGGTGACAGAGACAATTGGACTATCAGCTGGAGTGACAGGGACAATTGGATCATCAGCTGGGGTGACAGGTACAAA	exonic	MUC19	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1097.29	1162	chr12	40485831	.	C	CTCTCAGCTGGGGTGACAGAGACAATTGGACTATCAGCTGGAGTGACAGGGACAATTGGATCATCAGCTGGGGTGACAGGTACAAA	1097.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.753;DP=15830;ExcessHet=0;FS=2.086;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.1;MQRankSum=-26.74;QD=1.22;ReadPosRankSum=8.37;SOR=1.056	GT:AD:DP:GQ:PL	0/1:818,80:903:99:1111,0,33327	18	0	1	0
chr12	40485867	40485867	T	C	exonic	MUC19	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1009985851	7.331e-06	1.995e-05	9.09e-06	5.285e-06	8.014e-06	2.64e-06	1.73e-06	2.88e-06	1.89e-06	0	0	0	0	0	0	8.014e-06	0	0	4.388e-05	0.0003	2.836e-05	6.04e-05	0.0002	1.165e-05	6.23e-06	.	.	4.577e-05	0	0.0002	0	0	0	0	3.403e-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	.	.	.	.	.	.	.	.	0.03333	392.04	1349	chr12	40485867	.	T	C	392.04	.	AC=1;AF=0.033;AN=30;BaseQRankSum=-0.338;DP=17924;ExcessHet=0;FS=12.17;InbreedingCoeff=-0.0861;MLEAC=1;MLEAF=0.033;MQ=58.19;MQRankSum=-26.72;QD=0.47;ReadPosRankSum=-7.708;SOR=1.84	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:770,65:835:99:0|1:40485829_A_AGCTGG:404,0,30473:40485829	14	0	1	4
chr12	40485905	40485905	-	AAGTGACA	exonic	MUC19	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	4375.29	1395	chr12	40485905	.	G	GAAGTGACA	4375.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.04;DP=17662;ExcessHet=0;FS=12.235;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.73;MQRankSum=-29.72;QD=4.68;ReadPosRankSum=-1.94;SOR=1.545	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:774,160:934:99:0|1:40485829_A_AGCTGG:4389,0,31983:40485829	18	0	1	0
chr12	40485908	40485908	-	ATAACTGGACTATCAGCTGTGC	exonic	MUC19	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	4695.29	1395	chr12	40485908	.	G	GATAACTGGACTATCAGCTGTGC	4695.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.37;DP=17675;ExcessHet=0;FS=8.838;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.62;MQRankSum=-30.07;QD=4.96;ReadPosRankSum=1.95;SOR=1.411	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:779,168:947:99:0|1:40485829_A_AGCTGG:4709,0,32204:40485829	18	0	1	0
chr12	40485914	40485914	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1403712253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.542e-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	.	.	.	.	.	.	.	.	0.02941	4748.14	1388	chr12	40485914	.	G	A	4748.14	.	AC=1;AF=0.029;AN=34;BaseQRankSum=2.29;DP=17656;ExcessHet=0;FS=10.298;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.029;MQ=56.56;MQRankSum=-29.79;QD=5.11;ReadPosRankSum=10.47;SOR=1.412	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:762,168:930:99:0|1:40485829_A_AGCTGG:4761,0,31491:40485829	16	0	1	2
chr12	40485920	40485920	-	CTGGG	exonic	MUC19	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	4710.29	1372	chr12	40485920	.	A	ACTGGG	4710.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.43;DP=17049;ExcessHet=0;FS=8.836;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.65;MQRankSum=-30.26;QD=5;ReadPosRankSum=10.38;SOR=1.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:774,168:942:99:0|1:40485829_A_AGCTGG:4724,0,31994:40485829	18	0	1	0
chr12	40485923	40485923	-	TCGGCTGTGGTGACAGAGACAACTG	exonic	MUC19	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04545	4751.42	1373	chr12	40485923	.	A	ATCGGCTGTGGTGACAGAGACAACTG	4751.42	.	AC=1;AF=0.045;AN=22;BaseQRankSum=0.09;DP=16957;ExcessHet=0;FS=10.123;InbreedingCoeff=-0.1586;MLEAC=2;MLEAF=0.091;MQ=56.61;MQRankSum=-30.1;QD=5.13;ReadPosRankSum=8.87;SOR=1.432	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:759,168:927:99:0|1:40485829_A_AGCTGG:4761,0,29776:40485829	10	0	1	8
chr12	40485927	40485927	-	AACTGGGGTGACAAGAATAACTGGACT	exonic	MUC19	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	4291.67	1155	chr12	40485927	.	C	CAACTGGGGTGACAAGAATAACTGGACT	4291.67	.	AC=1;AF=0.028;AN=36;BaseQRankSum=3.34;DP=14947;ExcessHet=0;FS=8.771;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=56.85;MQRankSum=-29.9;QD=4.7;ReadPosRankSum=-0.711;SOR=1.474	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:757,157:914:99:0|1:40485829_A_AGCTGG:4305,0,29725:40485829	17	0	1	1
chr12	40486036	40486036	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.113e-06	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	.	.	.	.	.	.	.	.	0.02778	190.71	1155	chr12	40486036	.	G	A	190.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=4.71;DP=14755;ExcessHet=0;FS=3.905;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=59.13;MQRankSum=-26.88;QD=0.25;ReadPosRankSum=-5.202;SOR=1.404	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:700,56:756:99:0|1:40486034_G_A:204,0,29226:40486034	17	0	1	1
chr12	40486037	40486037	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0	26028	rs1358931139	2.41e-06	5.416e-05	0	5.218e-06	0.0001	4e-07	1.5e-07	2.117e-05	8.54e-06	0	0	0	0	0	0	0	0	0.0001	6.208e-05	0.0006	4.548e-05	7.95e-05	0.0002	3.065e-05	2.225e-05	5.576e-05	3.643e-05	0.0001	0	0.0002	0	0	0	0	1.65e-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	.	.	.	.	.	.	.	.	0.02778	615.71	1155	chr12	40486037	.	G	A	615.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=4.62;DP=14763;ExcessHet=0;FS=0.995;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=59.04;MQRankSum=-27.09;QD=0.81;ReadPosRankSum=-5.453;SOR=0.867	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:698,66:764:99:0|1:40486034_G_A:629,0,29112:40486034	17	0	1	1
chr12	40486038	40486038	C	T	exonic	MUC19	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.41e-06	7.541e-06	0	5.218e-06	0.0001	4e-07	1.5e-07	2.117e-05	8.54e-06	0	0	0	0	0	0	0	0	0.0001	0	1.328e-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	.	.	.	.	.	.	.	.	0.02778	714.71	1155	chr12	40486038	.	C	T	714.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-0.246;DP=14760;ExcessHet=0;FS=0;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=59.03;MQRankSum=-27.05;QD=0.94;ReadPosRankSum=-5.737;SOR=0.868	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:693,68:761:99:0|1:40486034_G_A:728,0,28896:40486034	17	0	1	1
chr12	40486047	40486047	C	T	exonic	MUC19	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1216232266	6.025e-06	1.028e-05	6.717e-06	5.218e-06	0.0001	1.77e-06	1.28e-06	2.117e-05	8.53e-06	0	0	0	0	0	0	3.953e-06	0	0.0001	0	9.694e-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	.	.	.	.	.	.	.	.	0.02778	2751.71	1155	chr12	40486047	.	C	T	2751.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=4.75;DP=14801;ExcessHet=0;FS=0;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=58.69;MQRankSum=-27.87;QD=3.43;ReadPosRankSum=-8.129;SOR=0.711	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:686,116:802:99:0|1:40486034_G_A:2765,0,28458:40486034	17	0	1	1
chr12	40486050	40486050	T	C	exonic	MUC19	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1252673078	2.41e-06	5.416e-05	0	5.219e-06	0.0001	4e-07	1.5e-07	2.117e-05	8.54e-06	0	0	0	0	0	0	0	0	0.0001	0.0008	0.0044	0.0007	0.0009	0.0039	0.0006	0.0006	0.0021	0.0016	0.0009	0	0.0008	0	0.0039	0.0002	0.0088	0.0007	0.0008	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	.	.	.	.	.	.	.	.	0.02778	3411.71	1155	chr12	40486050	.	T	C	3411.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=8.63;DP=14827;ExcessHet=0;FS=0;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=58.59;MQRankSum=-28.09;QD=4.15;ReadPosRankSum=-8.542;SOR=0.683	GT:AD:DP:GQ:PL	0/1:690,132:822:99:3425,0,28210	17	0	1	1
chr12	40486078	40486078	A	G	exonic	MUC19	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1157285326	6.025e-06	0.0003	4.478e-06	7.829e-06	6.584e-06	1.77e-06	1.28e-06	1.93e-06	1.4e-06	0	0	0	0	0	0	6.584e-06	0	0	8.686e-05	0.0027	6.544e-05	0.0001	0.0002	5.137e-05	4.024e-05	5.337e-05	2.849e-05	7.547e-05	0	0.0002	0	0	9.477e-05	0	8.877e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	6086.33	1134	chr12	40486078	.	A	G	6086.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=6.87;DP=13889;ExcessHet=0;FS=2.145;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.61;MQRankSum=-27.87;QD=6.78;ReadPosRankSum=-1.745;SOR=0.962	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:691,207:898:99:0|1:40486034_G_A:6100,0,28417:40486034	18	0	1	0
chr12	40486081	40486081	A	G	exonic	MUC19	.	unknown	UNKNOWN	.	570	950	1	1	0	3	0.00157646	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003074	8	26028	rs1410631239	2.41e-06	0.0003	0	5.218e-06	2.633e-06	4e-07	1.5e-07	4.4e-07	1.6e-07	0	0	0	0	0	0	2.633e-06	0	0	0.0001	0.0033	9.167e-05	0.0001	0.0002	6.62e-05	5.411e-05	5.348e-05	3.163e-05	0.0001	0	0.0002	0	0.0002	9.47e-05	0	8.885e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	6443.33	1134	chr12	40486081	.	A	G	6443.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.985;DP=13905;ExcessHet=0;FS=3.005;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.49;MQRankSum=-28.05;QD=7.05;ReadPosRankSum=-0.726;SOR=0.978	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:698,216:914:99:0|1:40486034_G_A:6457,0,28684:40486034	18	0	1	0
chr12	40486113	40486135	CTAGGGTGACAGGGACAACTGTA	-	exonic	MUC19	.	unknown	UNKNOWN	.	541	978	2	1	0	4	0.00204082	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1224179180	1.323e-05	0.0005	6.704e-06	2.083e-05	6.082e-05	7.1e-06	5.19e-06	6.64e-06	4.84e-06	0	0	0	0	0	0	1.314e-05	0	6.082e-05	0.0002	0.0091	0.0002	0.0002	0.0003	0.0002	0.0001	0.0001	0.0001	0.0003	0.0011	0.0003	0.0003	0	0.0002	0.0034	0.0002	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	4862.29	1333	chr12	40486112	.	GCTAGGGTGACAGGGACAACTGTA	G	4862.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.75;DP=15453;ExcessHet=0;FS=2.212;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.94;MQRankSum=-29.04;QD=3.87;ReadPosRankSum=6.21;SOR=0.953	GT:AD:DP:GQ:PL	0/1:990,268:1258:99:4876,0,40537	18	0	1	0
chr12	40487354	40487354	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	544	938	36	0	4	40	0.0188285	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1265246174	0	6.857e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0004	0.0041	0.0004	0.0004	0.0009	0.0003	0.0003	0.0002	0.0002	0.0003	0	0.0005	0.0005	0	0.0007	0	0.0004	0.0027	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1316	5607.37	1334	chr12	40487354	.	G	A	5607.37	.	AC=5;AF=0.132;AN=38;BaseQRankSum=1.26;DP=19611;ExcessHet=1.3;FS=27.943;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=56.47;MQRankSum=-24.28;QD=0.97;ReadPosRankSum=8.34;SOR=3.753	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:1613,136:1749:99:.:.:542,0,48563:.	14	0	5	0
chr12	40487418	40487418	G	C	exonic	MUC19	.	unknown	UNKNOWN	.	527	933	62	0	0	62	0.0321577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796103026	0	1.916e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0005	0.0031	0.0005	0.0004	0.0009	0.0004	0.0004	0.0005	0.0004	0.0002	0	0.0009	0.0003	0	0.0004	0	0.0006	0.0020	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1389	7982.25	1334	chr12	40487418	.	G	C	7982.25	.	AC=5;AF=0.139;AN=36;BaseQRankSum=-5.558;DP=20383;ExcessHet=1.3;FS=14.897;InbreedingCoeff=-0.1692;MLEAC=5;MLEAF=0.139;MQ=55.59;MQRankSum=-28.69;QD=1.4;ReadPosRankSum=-3.687;SOR=2.31	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:1539,114:1658:49:.:.:49,0,65216:.	13	0	5	1
chr12	40487424	40487424	-	TGG	exonic	MUC19	.	unknown	UNKNOWN	.	531	647	136	0	208	344	0.0951049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1394452281	0	6.859e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	4.247e-05	0.0036	3.291e-05	5.266e-05	0.0003	1.641e-05	1.002e-05	6.32e-06	2.36e-06	2.999e-05	0	0	0	0.0003	0.0001	0	3.809e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	55498.9	1319	chr12	40487424	.	T	TTGG	55498.9	.	AC=5;AF=0.132;AN=38;BaseQRankSum=1.81;DP=21295;ExcessHet=25.4433;FS=1.658;InbreedingCoeff=-0.7273;MLEAC=5;MLEAF=0.132;MQ=56.74;MQRankSum=-28.9;QD=5.62;ReadPosRankSum=-0.745;SOR=1.877	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:1550,0:1550:86:.:.:5325,0,64352:.	14	0	5	0
chr12	40490657	40490657	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	.	.	.	.	.	.	.	.	0.0003074	8	26028	rs113156802	7.202e-06	6.156e-06	6.69e-06	7.798e-06	0.0004	2.59e-06	1.7e-06	0.0002	0.0001	0	0	0	0	0	0	0	0	0.0004	2.628e-05	2.625e-05	1.286e-05	4.03e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	6119.33	770	chr12	40490657	.	G	A	6119.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.84;DP=10669;ExcessHet=0;FS=2.473;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.97;MQRankSum=-1.063;QD=12.72;ReadPosRankSum=-0.054;SOR=0.906	GT:AD:DP:GQ:PL	0/1:256,225:481:99:6133,0,7347	18	0	1	0
chr12	42469464	42469464	C	T	exonic	PRICKLE1	.	nonsynonymous SNV	PRICKLE1:NM_001144881:exon4:c.G370A:p.A124T,PRICKLE1:NM_001144882:exon4:c.G370A:p.A124T,PRICKLE1:NM_001144883:exon4:c.G370A:p.A124T,PRICKLE1:NM_153026:exon4:c.G370A:p.A124T	Epilepsy, progressive myoclonic 1B, Autosomal recessive	1	1491	29	1	0	31	0.0102887	.	.	.	135473	not_specified|Self-limited_epilepsy_with_centrotemporal_spikes|not_provided|Epilepsy,_progressive_myoclonic,_1B	MedGen:CN169374|MONDO:MONDO:0007295,MedGen:C0376532,Orphanet:1945|MedGen:C3661900|MONDO:MONDO:0012904,MedGen:C2676254,OMIM:612437,Orphanet:308	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.099	.	0.0017	0.0273562	0.0135	0.0006	0.0195	0.0924	0.0002	0.0021	0.0044	0.0281	0.0125548	1941	154602	rs79087668	0.0067	0.0067	0.0061	0.0073	0.0834	0.0066	0.0066	0.0811	0.0801	0.0005	0.0158	0.0021	0.0834	0.0003	0.0045	0.0025	0.0097	0.0265	0.0071	0.0071	0.0060	0.0082	0.0910	0.0067	0.0066	0.0843	0.0816	0.0007	0	0.0122	0.0017	0.0910	0.0007	0.0034	0.0027	0.0062	0.0373	0.184	0.21634	T	0.256	0.23298	T	0.002	0.09854	B	0.006	0.12133	B	0.000124	0.49741	D	0.207611	0.999915	0.51042	D	0.845	0.21182	L	0.05	0.76561	T	-1.21	0.33197	N	0.078	0.15046	-0.8924	0.48722	T	0.019	0.08033	T	10	0.001621902	0.00019	T	.	.	.	0.099	0.28413	.	.	.	.	0.3095601302993247	0.30869	0.339430259153	0.35891	0.450280964375	0.31982	T	0.118743	0.43978	T	-0.468024	0.00875	T	-0.358207	0.38261	T	0.00760317014155403	0.00088	T	0.819018	0.50309	T	0.08712119	0.20275	0.12031081	0.29035	0.08903565	0.20790	0.12031081	0.29034	-5.203	0.38972	T	0.06110281018219036	0.01722	0.073	0.04723	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	2.598206	0.33719	19.42	0.99004866399912961	0.50231	0.81330	0.40756	D	AEFDGBHCI	0.186650	0.31395	N	-0.107796757099699	0.37053	2.150237	0.00894855236807661	0.40128	2.390033	0.999999983472388	0.74766	0.706548	0.73137	0	0.218748	0.04544	0	0.724815	0.87919	0	0.723	0.93126	0	.	.	5.41	3.55	0.39770	1.948000	0.39929	2.647000	0.33790	0.599000	0.40250	0.952000	0.33172	0.992000	0.31684	0.984000	0.60418	0.0:0.8578:0.0:0.1422	12.584	0.55761	502	0.75873	Zinc finger, LIM-type;Zinc finger, LIM-type;Zinc finger, LIM-type;Zinc finger, LIM-type;Zinc finger, LIM-type;Zinc finger, LIM-type;Zinc finger, LIM-type;Zinc finger, LIM-type;Zinc finger, LIM-type;Zinc finger, LIM-type;Zinc finger, LIM-type;.	.	.	.	.	rs79087668	Likely benign	0	0	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	0.012601	0.010101	0.005435	0.000000	0.000000	0.000000	0.036585	0.015152	0.02632	1132.33	41	chr12	42469464	.	C	T	1132.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.039;DP=707;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.31;ReadPosRankSum=-1.012;SOR=0.698	GT:AD:DP:GQ:PL	0/1:47,45:92:99:1146,0,1270	18	0	1	0
chr12	43795599	43795599	C	G	exonic	TWF1	.	nonsynonymous SNV	TWF1:NM_002822:exon9:c.G1039C:p.A347P,TWF1:NM_001242397:exon10:c.G1060C:p.A354P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.0144312544856	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.43708	D	0.117	0.37037	T	0.337	0.48047	B	0.062	0.46637	B	0.000683	0.42383	D	0.265516	0.639358	0.32861	D	0.69	0.16971	N	1.43	0.32958	T	-0.49	0.16187	N	0.149	0.18920	-1.0276	0.21233	T	0.049	0.20987	T	10	0.12374139	0.23494	T	0.014431	0.34542	T	0.104	0.29647	0.084	0.00795	0.585747170787	0.58248	0.23576959825458196	0.23491	0.817697198664	0.67010	0.534688055515	0.43694	T	0.075626	0.35223	T	-0.107292	0.35216	T	-0.391894	0.34330	T	0.621706008911133	0.37276	D	0.871313	0.57716	D	0.070835754	0.15635	0.13977225	0.33339	0.070835754	0.15634	0.13977225	0.33338	-2.734	0.07593	T	.	.	0.091	0.13080	B	.;.;.	.;.;.	3.367160	0.46514	22.3	0.99639446999657821	0.76571	0.97889	0.77893	D	AEFDGBI	0.576261	0.57832	D	-0.035313430903305	0.40260	2.387949	0.0870892113881607	0.43898	2.682109	0.999123301601903	0.38507	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.24	4.34	0.51267	1.347000	0.33580	3.360000	0.37852	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.719:0.0:0.281	8.911	0.34714	595	0.68488	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1923	164.42	118	chr12	43795599	.	C	G	164.42	.	AC=5;AF=0.192;AN=26;BaseQRankSum=-2.95;DP=2476;ExcessHet=1.3;FS=200.31;InbreedingCoeff=-0.2578;MLEAC=5;MLEAF=0.192;MQ=57.86;MQRankSum=-0.659;QD=0.28;ReadPosRankSum=1.47;SOR=12.301	GT:AD:DP:GQ:PL	0/1:86,32:139:2:2,0,1483	8	0	5	6
chr12	50222358	50222358	C	G	exonic	LIMA1	.	nonsynonymous SNV	LIMA1:NM_001113546:exon4:c.G293C:p.R98T,LIMA1:NM_016357:exon4:c.G293C:p.R98T	.	426	1094	2	0	0	2	0.000913242	.	.	.	3696443	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.414	0.0282525129964	.	.	7.413e-05	0	0	0	0	0.0001	0.0011	0	5.82e-05	9	154602	rs779269873	5.951e-05	5.951e-05	5.036e-05	6.875e-05	0.0047	4.882e-05	4.561e-05	0.0033	0.0028	8.961e-05	2.236e-05	0	0	0	0.0047	3.867e-05	0.0002	2.319e-05	6.568e-05	6.562e-05	0.0001	2.687e-05	0.0003	3.515e-05	2.615e-05	0.0001	8.294e-05	0	0	0.0003	0	0	0	0.0068	4.41e-05	0	0	0.008	0.58626	D	0.226	0.50226	T	0.651	0.40707	P	0.084	0.29270	B	0.111192	0.19410	N	0.575995	1	0.81001	D	2.52	0.73523	M	-1.93	0.84842	D	-1.98	0.71042	N	0.461	0.51583	0.046	0.83157	D	0.514	0.81782	D	10	0.18753085	0.34268	T	0.028253	0.50961	D	0.414	0.72479	0.307	0.27806	0.901925520254	0.90095	0.27038369930362355	0.26951	0.505908923053	0.48822	0.356839001179	0.18925	T	0.10517	0.41539	T	-0.0286288	0.47615	T	-0.0812567	0.64811	T	0.193238092533409	0.20034	T	0.763824	0.39073	T	0.12870967	0.30083	0.23511577	0.48747	0.12870967	0.30083	0.23511577	0.48746	-3.735	0.20134	T	.	.	0.126	0.26638	B	.;.;.;.	.;.;.;.	2.525178	0.32641	19.10	0.95588549254570165	0.27307	0.53628	0.29418	D	AEFDGBHCI	0.257610	0.37631	N	0.21231052887358	0.51794	3.358048	0.260677009582937	0.53257	3.49572	0.999999999979833	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.53	4.63	0.57175	0.921000	0.28338	1.370000	0.25949	0.599000	0.40250	0.259000	0.24939	0.875000	0.27637	0.913000	0.44837	0.0:0.9305:0.0:0.0695	14.971	0.70887	498	0.76166	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.000000	0.001359	0.023392	0.000000	0.000000	0.000000	0.000000	0.02632	1441.33	33	chr12	50222358	.	C	G	1441.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.217;DP=715;ExcessHet=0;FS=0.798;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.41;ReadPosRankSum=0.763;SOR=0.814	GT:AD:DP:GQ:PL	0/1:48,52:100:99:1455,0,1365	18	0	1	0
chr12	50351825	50351825	G	C	exonic	FAM186A	.	nonsynonymous SNV	FAM186A:NM_001145475:exon4:c.C5007G:p.H1669Q	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.0156942483006	.	.	5.836e-05	0	0	0	0	0.0001	0	0	6.5e-06	1	154602	rs777452496	2.153e-06	2.736e-06	1.416e-06	2.912e-06	9.296e-07	5.7e-07	1.6e-07	.	.	0	0	8.139e-05	0	0	0	9.296e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.55	0.02420	N	3.77	0.03863	T	1.59	0.00660	N	0.045	0.01740	-0.9114	0.46682	T	0.006	0.02131	T	9	0.027505606	0.00895	T	0.015694	0.36562	T	0.002	0.00045	0.255	0.19533	0.0138822411134	0.00435	0.09472742068827465	0.09404	.	.	0.256699353456	0.04506	T	0.001506	0.00951	T	-0.514044	0.00476	T	-0.866106	0.00780	T	0.06730574914381	0.08267	T	0.109389	0.00818	T	0.040140633	0.05673	0.046214662	0.06392	0.040140633	0.05673	0.046214662	0.06391	-0.434	0.00545	T	.	.	0.064	0.02228	B	.;.	.;.	-1.071779	0.00675	0.019	0.26918115280121835	0.01312	0.00033	0.00296	N	AEFDGBI	.	.	.	-1.61955719560529	0.01170	0.05085791	-1.66391704482084	0.01306	0.05890339	0.999704713205664	0.41986	0.553676	0.25195	0	0.588015	0.36545	0	0.315538	0.05692	2	0.542086	0.14980	0	.	.	3.36	-2.18	0.06643	-1.520000	0.02345	-20.000000	0.00162	-0.234000	0.07639	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.1497:0.2581:0.2942:0.2981	0.869	0.01133	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	.	.	.	.	.	.	.	.	0.02632	2341.33	57	chr12	50351825	.	G	C	2341.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.15;DP=1460;ExcessHet=0;FS=3.125;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.2;ReadPosRankSum=-0.655;SOR=0.492	GT:AD:DP:GQ:PL	0/1:112,97:209:99:2355,0,2729	18	0	1	0
chr12	50453610	50453610	G	A	exonic	LARP4	.	nonsynonymous SNV	LARP4:NM_001352307:exon8:c.G901A:p.V301I,LARP4:NM_001170804:exon9:c.G955A:p.V319I,LARP4:NM_001170808:exon9:c.G955A:p.V319I,LARP4:NM_001330415:exon9:c.G973A:p.V325I,LARP4:NM_001352305:exon9:c.G970A:p.V324I,LARP4:NM_001352306:exon9:c.G925A:p.V309I,LARP4:NM_001352313:exon9:c.G745A:p.V249I,LARP4:NM_001352314:exon9:c.G745A:p.V249I,LARP4:NM_001352318:exon9:c.G745A:p.V249I,LARP4:NM_001352321:exon9:c.G955A:p.V319I,LARP4:NM_001352323:exon9:c.G955A:p.V319I,LARP4:NM_001352325:exon9:c.G955A:p.V319I,LARP4:NM_052879:exon9:c.G955A:p.V319I,LARP4:NM_199188:exon9:c.G952A:p.V318I,LARP4:NM_001352304:exon10:c.G745A:p.V249I,LARP4:NM_001352309:exon10:c.G745A:p.V249I,LARP4:NM_001352310:exon10:c.G745A:p.V249I,LARP4:NM_001352311:exon10:c.G745A:p.V249I,LARP4:NM_001352312:exon10:c.G745A:p.V249I,LARP4:NM_001352324:exon10:c.G745A:p.V249I	.	0	225	1	0	0	1	0.00221729	.	.	.	3701546	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.069	0.00307752121536	0.0003	.	0.0001	0.0001	0	0	0	0.0002	0	0	8.41e-05	13	154602	rs201761805	8.007e-05	8.072e-05	8.307e-05	7.703e-05	0.0001	6.803e-05	6.357e-05	7.688e-05	7.175e-05	2.987e-05	0.0001	0.0001	0	0	0	9.176e-05	9.938e-05	0	7.231e-05	7.22e-05	9.003e-05	5.378e-05	0.0001	3.973e-05	3.128e-05	6.805e-05	5.088e-05	0	0	6.557e-05	0	0	0	0	0.0001	0.0005	0	0.462	0.15613	T	0.242	0.26145	T	0.001	0.11197	B	0.005	0.12992	B	0.000196	0.48115	D	0.137216	0.888122	0.81001	D	0.46	0.12951	N	1.29	0.35775	T	0.33	0.03955	N	0.077	0.07125	-1.0548	0.13093	T	0.036	0.15465	T	10	0.096876174	0.17407	T	0.003078	0.06666	T	0.069	0.20116	.	.	0.414205011594	0.41037	0.5372826245652725	0.53653	0.179474252234	0.20186	0.410066634417	0.26466	T	0.017028	0.13967	T	-0.421748	0.01667	T	-0.574289	0.15058	T	0.0263574533164501	0.01454	T	0.816918	0.55479	T	0.016803	0.00223	0.02254762	0.00277	0.016803	0.00223	0.02254762	0.00277	-4.643	0.33331	T	.	.	0.075	0.08129	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.417575	0.18337	13.68	0.89930236183674817	0.19228	0.75115	0.36764	D	AEFBI	0.120085	0.23409	N	-0.431305848392892	0.24379	1.315898	-0.256327460776551	0.29553	1.656692	6.8912922879589E-4	0.07622	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	3.89	2.98	0.33575	2.048000	0.40903	3.129000	0.36433	0.618000	0.50648	0.977000	0.34929	0.999000	0.35428	0.997000	0.79791	0.3936:0.0:0.6064:0.0	3.580	0.07498	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	.	.	.	.	.	.	.	.	0.02632	1212.33	33	chr12	50453610	.	G	A	1212.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.552;DP=752;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.78;ReadPosRankSum=1.25;SOR=0.683	GT:AD:DP:GQ:PL	0/1:71,53:124:99:1226,0,1796	18	0	1	0
chr12	50925241	50925241	C	T	exonic	METTL7A	.	nonsynonymous SNV	METTL7A:NM_014033:exon1:c.C203T:p.P68L	.	435	1086	1	0	0	1	0.000460193	.	.	.	3620566	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.090	0.00549492589139	0.0002	.	9.897e-05	9.641e-05	0	0	0	0.0002	0	0	7.76e-05	12	154602	rs142438796	7.73e-05	7.73e-05	8.167e-05	7.288e-05	0.0001	6.532e-05	6.136e-05	7.398e-05	6.797e-05	2.987e-05	0.0001	0.0001	0	0	0	8.813e-05	9.934e-05	0	5.913e-05	5.91e-05	6.423e-05	5.379e-05	0.0001	3.077e-05	2.21e-05	4.764e-05	3.339e-05	0	0	6.546e-05	0	0	0	0	0.0001	0.0005	0	0.06	0.37326	T	0.115	0.41573	T	0.004	0.12183	B	0.013	0.16460	B	0.000195	0.48115	D	0.219670	1	0.81001	D	3.16	0.88528	M	1.86	0.24285	T	-5.84	0.88431	D	0.17	0.22742	-1.0193	0.23943	T	0.099	0.36805	T	10	0.20610735	0.36860	T	0.005495	0.14136	T	0.090	0.26093	.	.	0.297031009988	0.29315	0.6422383158487558	0.64158	0.105274594752	0.11901	0.3651009202	0.20126	T	0.076634	0.35466	T	-0.310542	0.07701	T	-0.424169	0.30598	T	0.804244637489319	0.46644	D	0.882612	0.61235	D	0.23585291	0.46427	0.25864547	0.51600	0.23585291	0.46427	0.25864547	0.51599	-6.246	0.48293	T	.	.	0.092	0.13550	B	.;.;.	.;.;.	3.778266	0.54311	23.5	0.99460666523421859	0.65788	0.65597	0.32791	D	AEFDGBHCI	0.746469	0.68883	D	-0.00694477084683687	0.41540	2.48653	-0.000564918774002596	0.39690	2.357207	0.99999999999925	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.672317	0.60874	0	0.665054	0.64577	0	.	.	5.0	5.0	0.66209	3.392000	0.52279	7.574000	0.60786	0.599000	0.40250	0.292000	0.25252	0.996000	0.32793	0.803000	0.37862	0.0:1.0:0.0:0.0	17.838	0.88618	252	0.90114	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1380.33	34	chr12	50925241	.	C	T	1380.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.507;DP=720;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.9;ReadPosRankSum=0.512;SOR=0.767	GT:AD:DP:GQ:PL	0/1:57,50:107:99:1394,0,1590	18	0	1	0
chr12	51345841	51345841	C	T	exonic	CELA1	.	nonsynonymous SNV	CELA1:NM_001971:exon2:c.G53A:p.R18H	.	397	1115	10	0	0	10	0.00446429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.825	.	0.0060	0.00279553	0.0074	0.0034	0.0038	0	0	0.0123	0	0.0042	0.0035316	546	154602	rs74336876	0.0080	0.0079	0.0083	0.0077	0.0097	0.0079	0.0079	0.0095	0.0095	0.0010	0.0017	0.0003	0.0001	0.0014	0.0018	0.0097	0.0061	0.0034	0.0056	0.0056	0.0059	0.0053	0.0098	0.0053	0.0052	0.0092	0.0089	0.0021	0	0.0041	0	0.0006	0.0009	0	0.0098	0.0066	0.0031	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.86	0.83026	M	-3.57	0.94904	D	-4.4	0.77308	D	0.698	0.70263	0.851	0.95040	D	0.868	0.95614	D	10	0.013401598	0.00284	T	.	.	.	0.825	0.94428	.	.	0.956935441388	0.95647	0.7919676062303795	0.79148	0.648346133805	0.58184	0.641728162766	0.58809	T	0.443304	0.78714	T	0.0683029	0.60641	T	0.334731	0.89704	D	0.0305056942265741	0.02067	T	0.888311	0.61778	D	0.90397924	0.91741	0.82492214	0.89855	0.90397924	0.91742	0.82492214	0.89856	-9.388	0.70160	D	.	.	0.424	0.60857	A	.	.	4.893864	0.80374	27.3	0.9995676482047765	0.99981	0.98788	0.86862	D	AEFDBIJ	0.639327	0.61742	D	0.743883081048087	0.82504	7.779419	0.693340410232827	0.81872	7.629555	0.999999999999775	0.74766	0.428477	0.06694	0	0.547309	0.14657	0	0.48864	0.07692	0	0.613276	0.41899	0	.	.	5.03	5.03	0.67015	6.517000	0.73669	7.357000	0.58325	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.960000	0.51673	0.0:1.0:0.0:0.0	17.541	0.87744	295	0.88218	Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005629	0.005319	0.006868	0.005882	0.055556	0.000000	0.003086	0.003846	0.02632	872.33	46	chr12	51345841	.	C	T	872.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.189;DP=802;ExcessHet=0;FS=1.607;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8;ReadPosRankSum=0.195;SOR=0.53	GT:AD:DP:GQ:PL	0/1:69,40:109:99:886,0,1698	18	0	1	0
chr12	51706661	51706661	G	C	exonic	SCN8A	.	nonsynonymous SNV	SCN8A:NM_001177984:exon11:c.G1581C:p.K527N,SCN8A:NM_001330260:exon11:c.G1581C:p.K527N,SCN8A:NM_001369788:exon11:c.G1581C:p.K527N,SCN8A:NM_014191:exon11:c.G1581C:p.K527N	Epileptic encephalopathy, early infantile, 13, Autosomal dominant;Seizures, benign familial infantile, 5, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.252	0.0719142025239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.392e-06	3.968e-05	1.38e-06	1.404e-06	3.092e-05	2.3e-07	9e-08	.	.	3.092e-05	0	0	0	0	0	9.097e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.72154	D	0.223	0.33109	T	0.431	0.35606	B	0.315	0.41566	B	0.000179	0.48594	D	0.184301	0.816986	0.28930	N	2.195	0.61839	M	-2.82	0.91192	D	-2.89	0.62747	D	0.442	0.53445	0.033	0.82901	D	0.626	0.86854	D	10	0.24059924	0.41222	T	0.071914	0.71394	D	0.252	0.56159	0.33	0.31519	0.902646408154	0.90167	0.5674523308067984	0.56673	1.41807407564	0.85568	0.605724453926	0.53712	T	0.703665	0.91489	D	-0.0247068	0.48179	T	-0.273266	0.47488	T	0.927446901798248	0.59031	D	0.789921	0.45664	T	0.2993846	0.52850	0.29699904	0.55732	0.2993846	0.52850	0.29699904	0.55732	-3.007	0.12177	T	.	.	0.476	0.68156	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.650273	0.34508	19.65	0.9983572789978995	0.91714	0.18883	0.20441	N	AEFBI	0.095722	0.19336	N	-0.290515847983622	0.29512	1.637351	-0.293922467393298	0.28298	1.576831	0.186781275037378	0.17948	0.706548	0.73137	0	0.59043	0.45803	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.41	2.46	0.29032	0.104000	0.15148	1.189000	0.24752	0.676000	0.76740	0.600000	0.27747	1.000000	0.68203	0.996000	0.76049	0.4379:0.0:0.5621:0.0	7.062	0.24310	579	0.69780	Voltage-gated Na+ ion channel, cytoplasmic domain;Voltage-gated Na+ ion channel, cytoplasmic domain;.;.;.;.;Voltage-gated Na+ ion channel, cytoplasmic 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	.	.	.	.	.	.	.	.	0.2941	1136.65	43	chr12	51706661	.	G	C	1136.65	.	AC=10;AF=0.294;AN=34;BaseQRankSum=-2.366;DP=1341;ExcessHet=6.9875;FS=163.767;InbreedingCoeff=-0.4405;MLEAC=11;MLEAF=0.324;MQ=60;MQRankSum=0;QD=1.7;ReadPosRankSum=1.93;SOR=11.652	GT:AD:DP:GQ:PL	0/1:44,18:66:65:65,0,808	7	0	10	2
chr12	53282397	53282397	A	G	exonic	ESPL1	.	nonsynonymous SNV	ESPL1:NM_012291:exon14:c.A2753G:p.N918S	.	426	1094	2	0	0	2	0.000913242	.	.	.	702392	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.030	.	0.0077	0.0105831	0.0026	0.0253	0.0013	0	0	0.0005	0.0033	0.0001	0.0025679	397	154602	rs73309511	0.0010	0.0010	0.0011	0.0009	0.0259	0.0009	0.0009	0.0244	0.0239	0.0259	0.0021	0.0052	0	0	0.0059	0.0001	0.0027	4.637e-05	0.0073	0.0073	0.0076	0.0069	0.0237	0.0069	0.0068	0.0224	0.0219	0.0237	0	0.0043	0.0055	0	0	0.0170	0.0003	0.0062	0	0.75	0.03587	T	0.915	0.02917	T	0.0	0.02946	B	0.0	0.01387	B	0.427198	0.12795	N	0.781386	1	0.08975	N	-1.955	0.00212	N	2.83	0.10771	T	0.49	0.02993	N	0.031	0.01004	-0.9536	0.40345	T	0.002	0.00707	T	10	0.0026177168	0.00040	T	.	.	.	0.030	0.07022	.	.	0.158540857583	0.15491	0.03176641637444302	0.03125	0.519481197324	0.49770	0.317421466112	0.13029	T	0.02366	0.18020	T	-0.758594	0.00015	T	-0.842848	0.01057	T	0.00284857693842914	0.00030	T	0.19518	0.02132	T	0.011934889	0.00024	0.017222807	0.00028	0.011934889	0.00024	0.017222807	0.00028	-1.311	0.01419	T	.	.	0.051	0.00179	B	.;.	.;.	-0.034001	0.04055	0.939	0.14521464524345717	0.00323	0.00121	0.00759	N	AEFDGBI	0.019706	0.00710	N	-1.47797123350466	0.02006	0.08814023	-1.39483276324403	0.03307	0.1539846	0.643288616756383	0.22074	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.67	0.605	0.16731	0.429000	0.21131	2.604000	0.33538	-0.106000	0.15538	0.013000	0.18845	0.966000	0.29516	0.094000	0.17991	0.1776:0.1435:0.3662:0.3127	1.125	0.01625	715	0.56137	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.010070	0.020202	0.008152	0.014620	0.000000	0.034483	0.000000	0.000000	0.02632	977.33	37	chr12	53282397	.	A	G	977.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.214;DP=702;ExcessHet=0;FS=1.891;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.21;ReadPosRankSum=-0.391;SOR=0.495	GT:AD:DP:GQ:PL	0/1:34,40:74:99:991,0,820	18	0	1	0
chr12	55027001	55027001	G	A	exonic	NEUROD4	.	nonsynonymous SNV	NEUROD4:NM_021191:exon2:c.G562A:p.D188N	.	426	1094	2	0	0	2	0.000913242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.0152583718769	0.0030	0.000798722	0.0014	0.0007	0.0010	0	0	0.0020	0	0.0008	0.0015524	240	154602	rs151143558	0.0033	0.0033	0.0033	0.0032	0.0039	0.0032	0.0031	0.0038	0.0038	0.0004	0.0020	0	0	0.0002	0.0009	0.0039	0.0039	0.0007	0.0026	0.0026	0.0029	0.0023	0.0039	0.0024	0.0023	0.0032	0.0031	0.0008	0.0559	0.0039	0	0	9.423e-05	0.0034	0.0036	0.0009	0.0010	0.006	0.61437	D	0.056	0.46632	T	0.101	0.25775	B	0.432	0.45448	B	0.000236	0.47286	D	0.214698	0.927932	0.36880	D	1.59	0.40313	L	-0.14	0.65006	T	-2.75	0.58407	D	0.087	0.06454	-0.4878	0.69086	T	0.292	0.66412	T	10	0.0080369115	0.00182	T	0.015258	0.35889	T	0.186	0.46104	.	.	0.857830542231	0.85645	.	.	0.020249272452	0.01990	0.381946474314	0.22532	T	0.194649	0.55049	T	-0.528179	0.00394	T	-0.529135	0.19374	T	0.0214500334031294	0.00849	T	0.749425	0.37065	T	0.29378405	0.52342	0.26948017	0.52829	0.29378405	0.52342	0.26948017	0.52828	-3.669	0.18861	T	.	.	0.093	0.14062	B	.	.	3.588584	0.50628	23.0	0.99863247595576232	0.94184	0.98681	0.85513	D	AEFBI	0.736662	0.68210	D	0.314683275977318	0.56902	3.855728	0.458572523819068	0.65270	4.802554	0.999999453827063	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.56	5.56	0.83678	6.893000	0.75468	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:1.0:0.0	17.401	0.87350	845	0.36510	Neurogenic differentiation factor, domain of unknown function	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2182.33	41	chr12	55027001	.	G	A	2182.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.85;DP=989;ExcessHet=0;FS=4.212;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.8;ReadPosRankSum=0.151;SOR=0.946	GT:AD:DP:GQ:PL	0/1:103,82:185:99:2196,0,2724	18	0	1	0
chr12	55294632	55294632	C	G	exonic	OR6C6	.	nonsynonymous SNV	OR6C6:NM_001005493:exon1:c.G601C:p.A201P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.217	0.00553845578433	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	2.723e-06	0	2.52e-05	2.3e-07	9e-08	.	.	0	0	0	2.52e-05	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	0.998	0.73220	D	0.988	0.77976	D	0.000090	0.51296	D	0.000000	1	0.08975	N	3.165	0.88605	M	1.08	0.39401	T	-4.9	0.81514	D	0.412	0.45237	-0.6083	0.64474	T	0.319	0.68813	T	10	0.68593127	0.71561	D	0.005538	0.14288	T	0.217	0.51112	0.69	0.82748	0.635979805963	0.63298	0.3398642693792814	0.33899	0.0464318094695	0.05045	0.195644497871	0.00341	T	0.01551	0.12998	T	0.0620346	0.59868	T	-0.148668	0.59363	T	0.991829097270966	0.82178	D	0.957604	0.84033	D	0.924358	0.93675	0.8617482	0.92298	0.924358	0.93676	0.8617482	0.92298	-10.988	0.79593	D	.	.	0.519	0.65457	A	.	.	2.662216	0.34688	19.70	0.99682644589503966	0.79373	0.07283	0.13306	N	AEFI	0.137786	0.25887	N	0.289968540505045	0.55638	3.727939	0.0631401076159905	0.42710	2.588222	1.60119879274923E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.24	4.24	0.49486	-0.048000	0.11898	.	.	0.512000	0.23348	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.0:0.8333:0.1667:0.0	12.682	0.56294	862	0.33134	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	.	.	.	.	.	.	.	.	0.02632	2137.33	40	chr12	55294632	.	C	G	2137.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.895;DP=991;ExcessHet=0;FS=2.806;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.53;ReadPosRankSum=0.781;SOR=0.525	GT:AD:DP:GQ:PL	0/1:79,79:158:99:2151,0,2276	18	0	1	0
chr12	55721281	55721281	A	G	exonic	RDH5	.	nonsynonymous SNV	RDH5:NM_001199771:exon2:c.A97G:p.I33V,RDH5:NM_002905:exon2:c.A97G:p.I33V	Fundus albipunctatus, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	254632	not_provided|Pigmentary_retinal_dystrophy|not_specified	MedGen:C3661900|Human_Phenotype_Ontology:HP:0030642,MONDO:MONDO:0007639,MedGen:C0311338,OMIM:136880,Orphanet:227796,Orphanet:52427|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.466	.	0.0015	0.000798722	0.0022	0.0003	0.0004	0	0.0159	0.0022	0.0011	0.0005	0.001934	299	154602	rs62638195	0.0023	0.0023	0.0023	0.0022	0.0019	0.0022	0.0022	0.0018	0.0018	0.0002	0.0007	0	0	0.0195	0	0.0019	0.0022	0.0003	0.0025	0.0025	0.0017	0.0032	0.0015	0.0023	0.0022	0.0013	0.0012	0.0002	0	0.0009	0	0	0.0231	0	0.0015	0.0014	0.0006	0.048	0.40068	D	0.105	0.38016	T	0.718	0.42284	P	0.309	0.41361	B	0.000001	0.84330	D	0.054615	0.96354	0.81001	D	1.19	0.30124	L	-3.01	0.92208	D	-0.86	0.23372	N	0.258	0.29313	-0.0783	0.80591	T	0.539	0.82980	D	10	0.010990709	0.00242	T	.	.	.	0.466	0.76156	.	.	0.848941654413	0.84749	0.5768467101811158	0.57613	0.15462076254	0.17463	0.501281201839	0.39007	T	0.519126	0.83150	D	-0.210436	0.19319	T	-0.0882833	0.64291	T	0.0362439026230048	0.03023	T	0.831417	0.49863	T	0.18761584	0.40224	0.129267	0.31086	0.1986735	0.41778	0.16714047	0.38575	-5.435	0.41255	T	.	.	0.161	0.36295	B	.;.	.;.	2.526177	0.32649	19.11	0.99846897787238187	0.92663	0.70601	0.34658	D	ALL	0.712446	0.66557	D	-0.0473666247754255	0.39719	2.346913	0.040474343442311	0.41615	2.503038	0.999999999999995	0.74766	0.658043	0.49183	0	0.552637	0.17590	0	0.659943	0.59835	0	0.607083	0.38531	0	.	.	5.11	3.94	0.44807	2.401000	0.44166	.	.	0.756000	0.94297	0.975000	0.34726	1.000000	0.68203	0.997000	0.79791	0.9144:0.0:0.0856:0.0	9.549	0.38464	673	0.60677	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	756.33	40	chr12	55721281	.	A	G	756.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.859;DP=733;ExcessHet=0;FS=2.784;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.88;ReadPosRankSum=0.734;SOR=1.035	GT:AD:DP:GQ:PL	0/1:60,36:96:99:770,0,1686	18	0	1	0
chr12	56267228	56267228	C	T	exonic	COQ10A	.	nonsynonymous SNV	COQ10A:NM_144576:exon1:c.C110T:p.P37L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.0207018733498	.	.	7.35e-05	0	0	0	0	6.261e-05	0	0.0003	4.53e-05	7	154602	rs759310240	3.111e-05	3.557e-05	2.681e-05	3.557e-05	0.0002	2.314e-05	2.083e-05	0.0001	0.0001	0	0	0	0	0	0	2.299e-05	3.704e-05	0.0002	1.989e-05	1.977e-05	0	4.075e-05	0.0004	5.29e-06	2.47e-06	7.372e-05	3.059e-05	0	0	0	0	0	9.524e-05	0	0	0	0.0004	0.119	0.28026	T	0.163	0.31125	T	0.041	0.21357	B	0.025	0.20508	B	.	.	.	.	0.998304	0.44746	D	0.695	0.17993	N	2.03	0.20959	T	0.0	0.07008	N	0.244	0.27554	-1.0910	0.05367	T	0.042	0.17952	T	9	0.07080364	0.10350	T	0.020702	0.43346	T	0.032	0.07718	0.293	0.25560	0.430126000877	0.42631	0.3985729985873948	0.39772	0.281482651218	0.30622	0.741092205048	0.73134	T	0.006031	0.05469	T	-0.277646	0.10920	T	-0.339036	0.40452	T	0.148184382796049	0.16958	T	0.530647	0.17608	T	0.08093527	0.18571	0.16238232	0.37723	0.08093527	0.18570	0.16238232	0.37722	-4.126	0.25672	T	.	.	0.099	0.16670	B	.	.	1.865666	0.23701	16.12	0.93461746542561686	0.23249	0.60571	0.31233	D	ALL	0.138910	0.26034	N	-0.393194054583693	0.25711	1.397734	-0.345327812691017	0.26653	1.473638	0.999999999999965	0.74766	0.266657	0.04791	1	0.218748	0.04544	0	0.519653	0.09787	0	0.249971	0.05119	0	.	.	3.6	3.6	0.40374	2.732000	0.47024	1.645000	0.27813	0.580000	0.29708	0.465000	0.26683	0.015000	0.20450	0.059000	0.15899	0.0:1.0:0.0:0.0	10.954	0.46562	368	0.84463	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	439.33	28	chr12	56267228	.	C	T	439.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.398;DP=684;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.98;ReadPosRankSum=0.672;SOR=0.752	GT:AD:DP:GQ:PL	0/1:24,20:44:99:453,0,745	18	0	1	0
chr12	56718654	56718654	G	T	exonic	NACA	.	nonsynonymous SNV	NACA:NM_001365896:exon3:c.C2876A:p.P959Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	.	0.0023	0.000798722	0.0055	0.0006	0.0012	0	0.0254	0.0064	0.0028	0.0002	0.0041009	634	154602	rs201572567	0.0064	0.0053	0.0066	0.0062	0.0069	0.0063	0.0063	0.0068	0.0067	0.0006	0.0012	7.168e-05	0	0.0255	0.0009	0.0069	0.0047	0.0003	0.0040	0.0043	0.0039	0.0040	0.0046	0.0037	0.0036	0.0042	0.0040	0.0008	0	0.0016	0	0	0.0214	0.0047	0.0046	0.0027	0.0005	0.022	0.48642	D	0.119	0.36101	T	0.987	0.61912	D	0.701	0.54186	P	.	.	.	.	1	0.81001	D	.	.	.	0.88	0.46028	T	-0.35	0.12847	N	0.11	0.09631	-0.9916	0.32193	T	0.142	0.46239	T	7	0.0042159855	0.00084	T	.	.	.	0.098	0.28162	.	.	0.215869574891	0.21205	.	.	.	.	.	.	.	0.054272	0.29678	T	-0.491097	0.00641	T	-0.476423	0.24828	T	0.0352494614255995	0.02851	T	0.407359	0.10471	T	0.08576484	0.19909	0.12916726	0.31062	0.08576484	0.19909	0.12916726	0.31061	-9.048	0.68006	D	.	.	0.159	0.35098	B	.	.	1.644400	0.20984	15.00	0.27562501691339109	0.01374	0.27979	0.23428	N	AEFDBCI	0.133745	0.25351	N	-0.471822125267663	0.23007	1.232493	-0.707242849562288	0.16780	0.8892981	0.999999611455912	0.74766	0.160855	0.03482	2	0.518115	0.08659	0	0.408882	0.06424	0	0.508809	0.08732	0	.	.	2.55	1.6	0.22686	0.238000	0.17782	-0.315000	0.10009	0.509000	0.23192	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.0:0.0:0.7985:0.2015	10.129	0.41839	45	0.97767	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1196.33	38	chr12	56718654	.	G	T	1196.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.32;DP=1474;ExcessHet=0;FS=6.98;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.88;MQRankSum=0;QD=13.75;ReadPosRankSum=1.37;SOR=0.876	GT:AD:DP:GQ:PL	0/1:42,45:87:99:1210,0,961	18	0	1	0
chr12	57193256	57193256	G	A	exonic	LRP1	.	nonsynonymous SNV	LRP1:NM_002332:exon46:c.G7636A:p.G2546S	.	0	1508	13	1	0	15	0.00494886	.	.	.	713663	not_provided|LRP1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.664	0.0682201535046	0.0022	0.00219649	0.0030	0.0002	0.0010	0.0010	0.0062	0.0034	0.0011	0.0048	0.0029948	463	154602	rs113379328	0.0034	0.0034	0.0033	0.0034	0.0050	0.0033	0.0033	0.0046	0.0045	0.0002	0.0020	7.652e-05	0.0008	0.0056	0.0036	0.0035	0.0030	0.0050	0.0031	0.0031	0.0029	0.0033	0.0058	0.0029	0.0028	0.0041	0.0039	0.0004	0	0.0018	0	0.0021	0.0073	0	0.0044	0.0033	0.0058	0.031	0.45039	D	0.045	0.49390	D	0.742	0.43019	P	0.227	0.38084	B	0.003090	0.35449	N	0.176749	0.996487	0.43231	D	2.265	0.64440	M	-4.12	0.96716	D	-2.9	0.60827	D	0.545	0.57177	0.877	0.95367	D	0.848	0.94943	D	10	0.01645419	0.00347	T	0.06822	0.70390	D	0.664	0.87479	.	.	0.758839333704	0.75664	0.7151362645237248	0.71456	.	.	0.613776445389	0.54849	T	0.618095	0.87990	D	-0.111326	0.34548	T	0.0689534	0.74840	D	0.0482458490631428	0.05187	T	0.915808	0.69967	D	0.1983924	0.41740	0.18786196	0.42043	0.1983924	0.41740	0.18786196	0.42043	-7.79	0.59630	D	.	.	0.109	0.20972	B	.	.	3.385795	0.46858	22.4	0.9787938907840843	0.36587	0.98611	0.84680	D	AEFBI	0.951369	0.96587	D	0.277600705627092	0.55016	3.665936	0.234465759488266	0.51771	3.356734	0.999810283852482	0.43459	0.67177	0.52595	0	0.633656	0.55848	0	0.702456	0.68683	0	0.655142	0.61905	0	.	.	4.57	4.57	0.55860	8.129000	0.89477	8.734000	0.78191	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.186000	0.21481	0.0:0.0:1.0:0.0	16.289	0.82564	345	0.85689	Low-density lipoprotein (LDL) receptor class A, conserved site	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004532	0.015152	0.006793	0.005848	0.000000	0.000000	0.003049	0.000000	0.02632	2050.33	34	chr12	57193256	.	G	A	2050.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.09;DP=794;ExcessHet=0;FS=1.941;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.58;ReadPosRankSum=0.85;SOR=0.638	GT:AD:DP:GQ:PL	0/1:83,80:163:99:2064,0,1984	18	0	1	0
chr12	76059802	76059802	A	G	exonic	NAP1L1	.	nonsynonymous SNV	NAP1L1:NM_001330232:exon4:c.T236C:p.I79T,NAP1L1:NM_001307924:exon6:c.T425C:p.I142T,NAP1L1:NM_001330231:exon6:c.T425C:p.I142T,NAP1L1:NM_004537:exon6:c.T425C:p.I142T,NAP1L1:NM_139207:exon6:c.T425C:p.I142T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	0.0140890462673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.298e-05	0.0001	1.007e-05	1.59e-05	3.167e-05	8.11e-06	6.69e-06	6.9e-06	5.32e-06	3.167e-05	0	0	0	0	0	1.237e-05	3.459e-05	2.454e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	0.58626	T	0.515	0.10643	T	0.741	0.42992	P	0.232	0.40572	B	0.000212	0.47681	D	0.219991	0.940363	0.81001	D	1.35	0.33515	L	1.0	0.41392	T	-1.96	0.50666	N	0.224	0.26111	-1.0717	0.09043	T	0.067	0.27708	T	10	0.21725681	0.38332	T	0.014089	0.33970	T	0.154	0.40340	0.451	0.51285	0.265735104816	0.26182	0.28783724609276506	0.28696	0.828852337507	0.67540	0.57043671608	0.48739	T	0.091695	0.38850	T	-0.0750447	0.40518	T	-0.345573	0.39712	T	0.783953189849854	0.45299	D	0.659534	0.37862	T	0.10568608	0.24989	0.1311999	0.31509	0.10568608	0.24989	0.1311999	0.31508	-8.678	0.65603	D	.	.	0.270	0.65692	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.388031	0.67691	25.1	0.9712404844935334	0.32469	0.99811	0.99622	D	AEFBI	0.923144	0.89919	D	0.0872240292922002	0.45869	2.836197	0.26620784129639	0.53577	3.525932	0.999999917027058	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.49	5.49	0.81022	9.263000	0.94779	11.266000	0.91241	0.733000	0.85838	1.000000	0.71638	1.000000	0.68203	0.972000	0.54974	0.8656:0.1344:0.0:0.0	12.985	0.57988	934	0.15400	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08824	141.02	37	chr12	76059802	.	A	G	141.02	.	AC=3;AF=0.088;AN=34;BaseQRankSum=-2.783;DP=1177;ExcessHet=0.3672;FS=203.377;InbreedingCoeff=-0.1169;MLEAC=3;MLEAF=0.088;MQ=60;MQRankSum=0;QD=0.43;ReadPosRankSum=0.53;SOR=8.051	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:86,19:105:21:0|1:76059802_A_G:21,0,2416:76059802	14	0	3	2
chr12	76346285	76346285	A	G	exonic	BBS10	.	nonsynonymous SNV	BBS10:NM_024685:exon2:c.T1700C:p.I567T	Bardet-Biedl syndrome 10, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	956945	Bardet-Biedl_syndrome|BBS10-related_disorder|Bardet-Biedl_syndrome_10	MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110|.|MONDO:MONDO:0014438,MedGen:C1859568,OMIM:615987,Orphanet:110	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.184	0.0330729412953	7.7e-05	0.000199681	4.961e-05	0	0	0.0002	0	1.502e-05	0	0.0002	4.53e-05	7	154602	rs373626588	1.642e-05	1.642e-05	1.498e-05	1.788e-05	0.0004	1.111e-05	9.34e-06	0.0002	0.0002	0	0	0	0.0004	0	0	8.995e-07	1.657e-05	9.28e-05	2.626e-05	2.625e-05	1.285e-05	4.028e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0.0008	0	0	0	0	0	1.0	0.00964	T	0.235	0.24767	T	0.146	0.27821	B	0.038	0.23361	B	0.263373	0.03724	N	1.506310	1	0.08975	N	1.955	0.52871	M	-1.95	0.85003	D	0.42	0.03352	N	0.046	0.01825	-0.7802	0.56291	T	0.417	0.76326	T	10	0.025939226	0.00773	T	0.033073	0.54726	D	0.184	0.45763	.	.	0.608345586348	0.60520	0.1363033304998971	0.13554	0.0705207017891	0.07900	0.336447238922	0.15906	T	0.14637	0.48394	T	-0.316958	0.07150	T	-0.363064	0.37698	T	0.0169096687853122	0.00443	T	0.305869	0.05863	T	0.026004452	0.01604	0.043450266	0.05408	0.026004452	0.01604	0.043450266	0.05407	-3.029	0.10497	T	0.11913371184519053	0.11064	0.087	0.11366	B	.;.	.;.	-0.563333	0.01674	0.120	0.46334595298226339	0.03704	0.05337	0.11192	N	AEFDBCI	0.057516	0.10720	N	-1.07923643904761	0.07026	0.3252092	-1.1745896581535	0.06337	0.3047141	0.99997174060783	0.50053	0.706298	0.61202	0	0.670034	0.63936	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.95	-2.67	0.05703	-1.584000	0.02217	-0.153000	0.11399	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.099000	0.18236	0.3069:0.1982:0.0:0.4949	6.872	0.23309	953	0.10115	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1980.33	34	chr12	76346285	.	A	G	1980.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.69;DP=777;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.47;ReadPosRankSum=0.632;SOR=0.736	GT:AD:DP:GQ:PL	0/1:76,71:147:99:1994,0,1978	18	0	1	0
chr12	91056172	91056172	A	G	exonic	KERA	.	nonsynonymous SNV	KERA:NM_007035:exon2:c.T110C:p.I37T	Cornea plana 2, autosomal recessive, Autosomal recessive	1	1520	1	0	0	1	0.000328839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.00669953889825	7.7e-05	.	5.809e-05	0	8.823e-05	0	0	7.54e-05	0	6.081e-05	5.17e-05	8	154602	rs377616201	4.934e-05	4.925e-05	4.637e-05	5.235e-05	0.0003	4e-05	3.676e-05	6.111e-05	3.831e-05	9.006e-05	4.491e-05	0	0	0	0.0003	5.313e-05	4.981e-05	3.482e-05	7.273e-05	7.227e-05	7.761e-05	6.764e-05	0.0001	3.995e-05	3.145e-05	5.89e-05	4.274e-05	7.246e-05	0	0	0	0	0	0	0.0001	0	0	0.379	0.11227	T	0.392	0.15406	T	0.001	0.07471	B	0.004	0.10090	B	0.002249	0.00871	N	2.644720	1	0.08975	N	0.895	0.22405	L	2.12	0.19726	T	0.01	0.06868	N	0.107	0.09207	-1.0257	0.21853	T	0.025	0.10509	T	10	0.0758962	0.11788	T	0.007	0.17699	T	0.038	0.09825	.	.	0.218845423259	0.21516	0.42331588442279244	0.42248	0.0158656480664	0.01516	0.298179864883	0.10131	T	0.272371	0.64476	T	-0.447721	0.01165	T	-0.694359	0.06139	T	0.0669884085655212	0.08222	T	0.466753	0.13720	T	0.02772405	0.02005	0.040602017	0.04426	0.02772405	0.02005	0.040602017	0.04426	-3.288	0.13583	T	.	.	0.080	0.07937	B	.	.	-0.103497	0.03622	0.715	0.45464569711019537	0.03570	0.12532	0.17326	N	AEFDI	0.146680	0.27018	N	-1.22446656438951	0.04648	0.2101879	-1.23673957511806	0.05330	0.2537174	0.0799224353236919	0.15831	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.93	-3.61	0.04264	-0.139000	0.10338	0.179000	0.15609	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.239000	0.22975	0.3331:0.0:0.1974:0.4695	5.942	0.18436	915	0.20917	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1970.33	33	chr12	91056172	.	A	G	1970.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.716;DP=768;ExcessHet=0;FS=0.654;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.51;ReadPosRankSum=0.933;SOR=0.761	GT:AD:DP:GQ:PL	0/1:57,70:127:99:1984,0,1618	18	0	1	0
chr12	111518261	111518261	C	T	exonic	ATXN2	.	nonsynonymous SNV	ATXN2:NM_001310123:exon7:c.G766A:p.V256I,ATXN2:NM_001310121:exon9:c.G838A:p.V280I,ATXN2:NM_001372574:exon9:c.G1153A:p.V385I,ATXN2:NM_002973:exon9:c.G1153A:p.V385I	Spinocerebellar ataxia 2, Autosomal dominant	3	1511	8	0	0	8	0.00264026	.	.	.	3294104	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.255	0.0273601925724	0.0002	0.000399361	0.0002	9.617e-05	0	0	0	0.0003	0	0.0002	0.0002329	36	154602	rs145810958	0.0002	0.0002	0.0002	0.0002	0.0078	0.0002	0.0002	0.0060	0.0054	0.0004	0.0004	0.0022	2.531e-05	0	0.0078	0.0001	0.0005	0.0002	0.0004	0.0004	0.0003	0.0005	0.0024	0.0003	0.0003	0.0017	0.0015	0.0001	0	0.0024	0.0014	0	0	0.0170	0.0001	0.0005	0.0002	0.027	0.46513	D	0.257	0.35710	T	0.595	0.68779	P	0.192	0.77487	B	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.075	0.57047	M	-0.16	0.66113	T	-0.45	0.15178	N	0.606	0.67132	-0.7036	0.60266	T	0.276	0.64814	T	10	0.053849548	0.05640	T	0.02736	0.50178	D	0.255	0.56562	.	.	0.452650218784	0.44890	0.18625792326796123	0.18543	1.03974101562	0.75753	0.684398651123	0.64900	T	0.021121	0.53836	T	-0.266444	0.12156	T	-0.271073	0.47712	T	0.167464181780815	0.18406	T	0.838616	0.51177	T	0.12865596	0.30073	0.098489664	0.23482	0.16320188	0.36445	0.12748422	0.30686	-3.988	0.23624	T	.	.	0.114	0.26825	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.569641	0.72080	25.8	0.98688761620608934	0.44723	0.98786	0.86836	D	AEFBI	0.822352	0.74270	D	0.143729654188245	0.48515	3.062858	0.195016708105032	0.49572	3.158892	0.999912651260418	0.45857	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.17	4.27	0.50009	7.286000	0.78031	7.669000	0.64672	-0.218000	0.08083	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.1437:0.8563:0.0:0.0	15.012	0.71214	599	0.68140	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	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	0.009567	0.010101	0.019022	0.020468	0.000000	0.000000	0.000000	0.000000	0.02632	400.33	34	chr12	111518261	.	C	T	400.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.435;DP=669;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.15;ReadPosRankSum=0.26;SOR=0.603	GT:AD:DP:GQ:PL	0/1:37,19:56:99:414,0,944	18	0	1	0
chr12	119102258	119102258	G	T	exonic	SRRM4	.	nonsynonymous SNV	SRRM4:NM_194286:exon2:c.G154T:p.V52F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	.	.	0.00239617	0.0008	0	0	0.0111	0	0	0.0022	0.0002	0.0007633	118	154602	rs118023042	0.0006	0.0006	0.0006	0.0006	0.0221	0.0006	0.0006	0.0209	0.0204	2.988e-05	0	0	0.0221	0	0	8.996e-07	0.0005	6.961e-05	0.0004	0.0004	0.0004	0.0005	0.0118	0.0003	0.0003	0.0094	0.0086	0	0	6.539e-05	0	0.0118	0	0	0	0.0005	0.0004	0.104	0.29959	T	0.699	0.05747	T	0.078	0.24389	B	0.091	0.29943	B	0.001805	0.00828	N	3.189600	1	0.08975	N	0.345	0.11182	N	1.91	0.23283	T	-0.77	0.21429	N	0.16	0.16725	-1.0302	0.20390	T	0.014	0.05369	T	10	0.0039785802	0.00077	T	.	.	.	0.033	0.08068	.	.	0.0401082797425	0.02173	0.07663712880761873	0.07599	0.203420915256	0.22757	0.274839431047	0.06783	T	0.008015	0.07382	T	-0.658055	0.00065	T	-0.708632	0.05366	T	0.0309175134033493	0.02132	T	0.420158	0.11156	T	0.059253994	0.12021	0.043735493	0.05508	0.059253994	0.12020	0.043735493	0.05508	-3.659	0.18715	T	.	.	0.089	0.12371	B	.	.	-1.769574	0.00168	0.002	0.89067363969681013	0.18484	0.00745	0.03105	N	AEFBI	0.035089	0.04458	N	-1.74197066383964	0.00703	0.03036113	-1.8639426284822	0.00575	0.02554606	0.999824802223434	0.43622	0.660377	0.49826	0	0.573888	0.26702	0	0.696353	0.63694	0	0.564101	0.26826	0	.	.	4.83	-9.65	0.00450	-2.232000	0.01288	-1.993000	0.04377	-1.475000	0.01066	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.1942:0.2584:0.3759:0.1715	2.502	0.04354	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	.	.	.	.	.	.	.	.	0.02632	958.33	34	chr12	119102258	.	G	T	958.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.655;DP=684;ExcessHet=0;FS=1.992;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.5;ReadPosRankSum=-1.055;SOR=0.434	GT:AD:DP:GQ:PL	0/1:33,38:71:99:972,0,748	18	0	1	0
chr12	122702194	122702198	AAGGA	-	exonic	HCAR2	.	frameshift deletion	HCAR2:NM_177551:exon1:c.1086_1090del:p.P363Nfs*26	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs63475561	8.971e-05	0.0006	9.948e-05	7.984e-05	0.0023	7.697e-05	7.241e-05	0.0019	0.0018	0.0004	2.238e-05	0	0.0023	0	0.0002	3.599e-06	0.0002	0.0001	0.0003	0.0016	0.0002	0.0003	0.0012	0.0002	0.0002	0.0005	0.0004	0.0007	0	0.0002	0	0.0012	0.0002	0	0	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	36.29	35	chr12	122702193	.	TAAGGA	T	36.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.19;DP=795;ExcessHet=0;FS=18.458;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.48;MQRankSum=-10.48;QD=0.27;ReadPosRankSum=-4.658;SOR=3.872	GT:AD:DP:GQ:PL	0/1:123,10:133:50:50,0,5091	18	0	1	0
chr12	122959875	122959875	C	T	exonic	ABCB9	.	nonsynonymous SNV	ABCB9:NM_001243013:exon2:c.G361A:p.V121M,ABCB9:NM_001243014:exon2:c.G361A:p.V121M,ABCB9:NM_019624:exon2:c.G361A:p.V121M,ABCB9:NM_019625:exon2:c.G361A:p.V121M,ABCB9:NM_203444:exon2:c.G361A:p.V121M	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.256	.	.	0.00379393	0.0019	0.0002	0.0018	0.0211	0	0.0002	0.0012	0.0002	0.0016623	257	154602	rs3803002	0.0012	0.0012	0.0012	0.0012	0.0375	0.0012	0.0011	0.0360	0.0353	0.0003	0.0011	0.0015	0.0375	0	0	9.803e-05	0.0010	0.0001	0.0009	0.0009	0.0008	0.0009	0.0210	0.0008	0.0007	0.0178	0.0166	9.618e-05	0	0.0005	0.0017	0.0210	0	0	7.349e-05	0.0005	0	0.023	0.52492	D	0.078	0.43159	T	0.753	0.46605	P	0.151	0.35894	B	0.023807	0.26374	N	0.393235	0.70413	0.30075	N	1.175	0.29870	L	-2.22	0.89822	D	-1.3	0.32590	N	0.152	0.16028	-0.0754	0.80656	T	0.420	0.76576	T	10	0.008930504	0.00202	T	.	.	.	0.256	0.56694	.	.	0.905978493904	0.90504	0.424579376834801	0.42374	0.215637207336	0.24097	0.477903723717	0.35768	T	0.161038	0.50513	T	-0.327889	0.06272	T	-0.199744	0.54670	T	0.011419360014893	0.00171	T	0.860614	0.56501	D	0.10114464	0.23889	0.08943146	0.20911	0.10114464	0.23888	0.08943146	0.20911	-5.838	0.44999	T	.	.	0.135	0.32945	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.445058	0.31476	18.75	0.99392811932454939	0.62428	0.75007	0.36708	D	AEFDBI	0.194857	0.32192	N	0.117768959875989	0.47292	2.956968	0.165677214111306	0.47978	3.020172	0.464413952430163	0.20652	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	5.53	4.63	0.57175	2.114000	0.41535	2.646000	0.33784	0.587000	0.30956	0.969000	0.34210	0.703000	0.26245	0.925000	0.46118	0.0:0.7932:0.135:0.0718	10.533	0.44174	248	0.90287	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.000000	0.000000	0.000000	0.000000	0.000000	0.009202	0.003788	0.02632	1785.33	34	chr12	122959875	.	C	T	1785.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.42;DP=762;ExcessHet=0;FS=0.631;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.94;ReadPosRankSum=0.733;SOR=0.812	GT:AD:DP:GQ:PL	0/1:69,69:138:99:1799,0,1698	18	0	1	0
chr12	131797354	131797354	G	A	exonic	SFSWAP	.	nonsynonymous SNV	SFSWAP:NM_004592:exon16:c.G2711A:p.R904H,SFSWAP:NM_001261411:exon17:c.G2867A:p.R956H	.	429	1059	32	2	0	36	0.0167131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	.	0.0004	0.00359425	0.0028	0.0002	0.0017	0.0005	0	0.0005	0.0013	0.0159	0.0021733	336	154602	rs2229809	0.0013	0.0013	0.0008	0.0017	0.0147	0.0012	0.0012	0.0140	0.0137	0.0002	0.0014	0.0009	5.061e-05	1.92e-05	0.0053	0.0003	0.0021	0.0147	0.0010	0.0010	0.0008	0.0012	0.0145	0.0008	0.0008	0.0118	0.0108	9.62e-05	0	0.0009	0.0026	0	0	0.0034	0.0007	0.0009	0.0145	0.001	0.91255	D	0.07	0.43721	T	0.999	0.77913	D	0.987	0.77487	D	0.000276	0.46590	D	0.176010	1	0.81001	D	2.125	0.59049	M	1.85	0.24472	T	-1.34	0.37375	N	0.489	0.52297	-0.9088	0.47001	T	0.155	0.48568	T	10	0.0063506067	0.00143	T	.	.	.	0.151	0.39764	.	.	0.174091166621	0.17034	0.43951067603578076	0.43868	0.547118669287	0.51680	0.697968900204	0.66850	T	0.07596	0.35303	T	-0.355286	0.04403	T	-0.270796	0.47740	T	0.0346239289348422	0.02744	T	0.892111	0.62800	D	0.17955427	0.39032	0.114189036	0.27561	0.17955427	0.39032	0.114189036	0.27561	-5.681	0.43524	T	.	.	0.093	0.25753	B	.;.	.;.	4.280980	0.65215	24.8	0.99876481571176401	0.95328	0.93280	0.57796	D	AEFDBHCI	0.657473	0.62909	D	0.756565380100216	0.83333	7.989863	0.748075774186384	0.86012	8.755491	0.999999999414607	0.74766	0.741868	0.97996	0	0.724815	0.89359	0	0.774882	0.98623	0	0.635551	0.53088	0	.	.	5.41	5.41	0.78313	6.765000	0.74760	7.190000	0.57771	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	17.955	0.88984	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	0.005181	0.000000	0.002717	0.013986	0.000000	0.000000	0.003049	0.018939	0.02632	685.33	34	chr12	131797354	.	G	A	685.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.868;DP=691;ExcessHet=0;FS=2.481;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.02;ReadPosRankSum=0.599;SOR=0.395	GT:AD:DP:GQ:PL	0/1:29,28:57:99:699,0,795	18	0	1	0
chr12	132139717	132139717	C	T	exonic	DDX51	.	nonsynonymous SNV	DDX51:NM_175066:exon14:c.G1892A:p.R631Q	.	426	1089	7	0	0	7	0.00320366	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.0202105423929	8.1e-05	0.00139776	0.0006	0	0	0.0059	0	1.524e-05	0	0.0015	0.0005433	84	154602	rs200781935	0.0003	0.0003	0.0002	0.0003	0.0047	0.0002	0.0002	0.0042	0.0040	2.987e-05	0.0002	0	0.0047	1.912e-05	0.0012	2.068e-05	0.0003	0.0014	0.0002	0.0002	0.0002	0.0003	0.0046	0.0002	0.0002	0.0032	0.0027	0	0	0.0001	0	0.0046	9.411e-05	0	4.41e-05	0	0.0012	0.261	0.16520	T	0.416	0.14284	T	0.084	0.24799	B	0.011	0.15521	B	0.031973	0.25095	N	0.418032	0.974492	0.25488	N	0.345	0.11182	N	4.52	0.01997	T	0.21	0.04776	N	0.219	0.24510	-0.9072	0.47191	T	0.003	0.00994	T	10	0.0043263435	0.00087	T	0.020211	0.42757	T	0.043	0.11576	.	.	0.200317383148	0.19677	0.5045826835355963	0.50380	0.0457330530629	0.04962	0.284489572048	0.08127	T	0.00864	0.07919	T	-0.588635	0.00171	T	-0.615002	0.11582	T	0.0213708410688014	0.00840	T	0.626337	0.24237	T	0.028891822	0.02298	0.028687328	0.01129	0.028891822	0.02298	0.028687328	0.01128	-3.809	0.20939	T	.	.	0.076	0.06069	B	.	.	2.013864	0.25593	16.82	0.76682753061124942	0.11567	0.30778	0.24170	N	AEFBCI	0.074414	0.14914	N	-0.837600536967952	0.12357	0.6018355	-0.763481026926097	0.15392	0.8092606	0.0115361716200441	0.12199	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	4.59	1.17	0.19998	1.653000	0.36940	0.068000	0.14222	0.599000	0.40250	0.991000	0.37257	0.001000	0.17328	0.011000	0.09372	0.0:0.4616:0.2087:0.3297	3.267	0.06464	912	0.21483	Helicase, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1428.33	33	chr12	132139717	.	C	T	1428.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.45;DP=767;ExcessHet=0;FS=2.567;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.87;ReadPosRankSum=-0.383;SOR=0.487	GT:AD:DP:GQ:PL	0/1:49,54:103:99:1442,0,1220	18	0	1	0
chr12	132583288	132583288	T	C	exonic	FBRSL1	.	nonsynonymous SNV	FBRSL1:NM_001382740:exon12:c.T1898C:p.L633P,FBRSL1:NM_001142641:exon17:c.T2648C:p.L883P,FBRSL1:NM_001367871:exon19:c.T2519C:p.L840P,FBRSL1:NM_001382739:exon19:c.T2573C:p.L858P	.	338	1154	27	2	1	32	0.0132535	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.193455737509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.945e-06	1.975e-05	3.828e-06	1.238e-05	0.0004	3.42e-06	2.47e-06	2.55e-06	1.68e-06	0	0	0	0	0	0.0004	7.101e-06	2.538e-05	0	2.836e-05	2.788e-05	4.152e-05	1.454e-05	1.624e-05	9.63e-06	5.47e-06	.	.	0	0	0	0	0	0	0	1.624e-05	0.0016	0	0.035	0.43708	D	0.028	0.54934	D	0.998	0.73220	D	0.952	0.69102	D	0.210808	0.16370	U	0.595790	0.999916	0.19599	N	1.3	0.32576	L	1.48	0.31731	T	1.43	0.00805	N	0.041	0.01421	-1.0418	0.16770	T	0.070	0.28642	T	10	0.14024186	0.26658	T	0.193456	0.86304	D	0.072	0.21020	0.184	0.09259	0.238096912614	0.23440	0.042928500816608574	0.04237	.	.	0.690930485725	0.65841	T	0.00117	0.00676	T	-0.255663	0.13411	T	-0.605018	0.12392	T	0.270383417606354	0.23764	T	0.273673	0.04648	T	0.2031736	0.42386	0.17289461	0.39578	0.2031736	0.42386	0.17289461	0.39577	-3.737	0.19865	T	.	.	0.060	0.01834	B	.;.	.;.	1.447798	0.18681	13.87	0.92674108569993696	0.22158	0.00330	0.01723	N	AEFDBI	0.033239	0.03905	N	-0.791393908285427	0.13533	0.6673757	-1.09392316699898	0.07819	0.3818704	0.999993999996639	0.74766	0.72623	0.87236	0	0.633656	0.55848	0	0.594344	0.31042	0	0.604944	0.38103	0	.	.	3.43	-6.87	0.01511	0.176000	0.16596	-2.275000	0.03964	0.501000	0.22741	0.004000	0.16614	0.000000	0.08366	0.025000	0.12405	0.0:0.403:0.2214:0.3756	6.465	0.21180	769	0.49307	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	164.6	22	chr12	132583288	.	T	C	164.6	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.483;DP=381;ExcessHet=0.119;FS=1.563;InbreedingCoeff=-0.0671;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=4.7;ReadPosRankSum=0.113;SOR=1.179	GT:AD:DP:GQ:PL	0/1:7,8:15:99:178,0,178	18	0	1	0
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	.	.	.	.	.	.	.	.	0.07895	4091.79	46	chr12	133121791	.	A	G	4091.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.67;DP=1027;ExcessHet=0.3672;FS=1.238;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=11.09;ReadPosRankSum=-0.254;SOR=0.622	GT:AD:DP:GQ:PL	0/1:77,67:144:99:1646,0,1890	16	0	3	0
chr13	36125992	36125992	G	C	exonic	DCLK1	.	nonsynonymous SNV	DCLK1:NM_001330071:exon2:c.C146G:p.T49R,DCLK1:NM_001330072:exon2:c.C146G:p.T49R,DCLK1:NM_004734:exon2:c.C146G:p.T49R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.321	0.00873092984407	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.50676	D	0.383	0.32144	T	0.468	0.36503	P	0.332	0.42135	B	0.000000	0.84330	D	0.052072	0.999913	0.51042	D	1.24	0.30952	L	-0.22	0.66652	T	-0.01	0.22727	N	0.447	0.54322	-0.6098	0.64412	T	0.249	0.61855	T	10	0.27389085	0.44940	T	0.008731	0.23050	T	0.321	0.64318	0.265	0.21103	0.732480699055	0.73009	0.586443289654458	0.58574	1.37082442145	0.84528	0.838552355766	0.87874	D	0.108436	0.42147	T	0.105665	0.64899	D	-0.0859965	0.64462	T	0.839181542396545	0.49261	D	0.912309	0.68816	D	0.62152445	0.73845	0.46187484	0.68753	0.62152445	0.73846	0.46187484	0.68753	-9.074	0.68172	D	.	.	0.607	0.69803	P	.;.;.	.;.;.	5.078242	0.84734	28.4	0.99082669837769555	0.52002	0.99110	0.91373	D	AEFBI	0.940753	0.94313	D	0.420772180649397	0.62566	4.474508	0.569579321855903	0.72768	5.86245	1.0	0.98316	0.713056	0.82018	0	0.573888	0.26702	0	0.608524	0.38960	0	0.586402	0.36253	0	.	.	5.67	5.67	0.87673	9.775000	0.98175	11.841000	0.97811	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.780	0.96409	765	0.49814	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1824.33	48	chr13	36125992	.	G	C	1824.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.72;DP=841;ExcessHet=0;FS=2.397;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.95;ReadPosRankSum=0.619;SOR=0.494	GT:AD:DP:GQ:PL	0/1:56,66:122:99:1838,0,1464	18	0	1	0
chr13	42303097	42303097	G	C	exonic	AKAP11	.	nonsynonymous SNV	AKAP11:NM_016248:exon8:c.G4351C:p.V1451L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00348779331928	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0058	0.0001	0.0001	0.0004	0.0001	0.0001	0.0001	0.0001	0.0001	2.239e-05	0.0002	0.0001	0	0.0004	0.0002	0.0001	5.842e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.732	0.03787	T	0.652	0.06690	T	0.0	0.02946	B	0.0	0.01387	B	0.384222	0.04439	N	1.329080	1	0.08975	N	-0.695	0.01866	N	1.03	0.40469	T	0.12	0.05604	N	0.01	0.00095	-1.0487	0.14761	T	0.025	0.10553	T	10	0.03053692	0.01181	T	0.003488	0.07908	T	0.040	0.10527	0.282	0.23801	0.174091166621	0.17034	0.08873411500846382	0.08806	0.0437477432083	0.04714	0.247362196445	0.03495	T	0.00156	0.01004	T	-0.357409	0.04279	T	-0.75117	0.03440	T	0.0190869918422606	0.00616	T	0.254375	0.03921	T	0.018132178	0.00335	0.025108913	0.00546	0.018132178	0.00334	0.025108913	0.00545	-2.626	0.06703	T	.	.	0.106	0.19839	B	.	.	-0.851205	0.01010	0.042	0.27875280092314592	0.01405	0.12762	0.17464	N	AEFBCI	0.031390	0.03350	N	-1.67084211627419	0.00950	0.04116467	-1.65714055191059	0.01339	0.06045885	0.999931029354219	0.46732	0.706548	0.73137	0	0.702456	0.74545	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.98	-6.75	0.01575	0.231000	0.17651	-0.238000	0.10617	-0.111000	0.15049	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.2747:0.1624:0.2842:0.2787	0.459	0.00478	675	0.60470	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4167	5180.53	132	chr13	42303097	.	G	C	5180.53	.	AC=15;AF=0.417;AN=36;BaseQRankSum=-4.864;DP=2672;ExcessHet=20.8569;FS=361.789;InbreedingCoeff=-0.6834;MLEAC=15;MLEAF=0.417;MQ=60;MQRankSum=0;QD=2.47;ReadPosRankSum=0.708;SOR=13.056	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:106,41:151:99:.:.:308,0,2457:.	3	0	15	1
chr13	69882456	69882456	G	A	exonic	KLHL1	.	nonsynonymous SNV	KLHL1:NM_001286725:exon4:c.C871T:p.L291F,KLHL1:NM_020866:exon5:c.C1054T:p.L352F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.426	0.0648284192983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.021	0.63109	D	0.998	0.73220	D	0.992	0.80445	D	0.000036	0.55875	D	0.000000	0.986518	0.40444	D	2.89	0.83701	M	-0.39	0.69158	T	-2.91	0.60982	D	0.547	0.58629	0.346	0.88281	D	0.580	0.84898	D	10	0.5550405	0.64469	D	0.064828	0.69397	D	0.426	0.73372	0.457	0.52265	0.77630264569	0.77424	0.20463235290269857	0.20380	0.210258746393	0.23511	0.712280154228	0.68924	T	0.595999	0.86982	D	0.0531689	0.58749	T	-0.161403	0.58226	T	0.988282024860382	0.78636	D	0.964204	0.86724	D	0.46265322	0.64836	0.37256262	0.62462	0.46265322	0.64837	0.37256262	0.62462	-10.752	0.78280	D	.	.	0.481	0.63722	A	.;.	.;.	5.474448	0.91308	32	0.99901283922638506	0.97275	0.94895	0.62702	D	AEFI	0.697597	0.65555	D	0.812871305168358	0.86905	9.037639	0.740323524884371	0.85433	8.578981	0.985978107960792	0.30982	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.08	5.08	0.68373	3.554000	0.53466	11.664000	0.94021	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.834	0.92121	907	0.22727	BTB/Kelch-associated|BTB/Kelch-associated;BTB/Kelch-associated|BTB/Kelch-associated	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3421	830.1	154	chr13	69882456	.	G	A	830.1	.	AC=13;AF=0.342;AN=38;BaseQRankSum=-2.494;DP=2397;ExcessHet=13.8672;FS=177.744;InbreedingCoeff=-0.5332;MLEAC=13;MLEAF=0.342;MQ=60;MQRankSum=0;QD=0.54;ReadPosRankSum=0.578;SOR=13.216	GT:AD:DP:GQ:PL	0/1:87,33:126:38:38,0,1473	6	0	13	0
chr13	99982726	99982726	T	C	exonic	ZIC2	.	nonsynonymous SNV	ZIC2:NM_007129:exon1:c.T662C:p.M221T	Holoprosencephaly 5, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.259	0.0178519244245	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.858e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.51248	D	0.1	0.38742	T	0.978	0.58756	D	0.921	0.65636	D	0.000000	0.84330	D	0.000000	0.999631	0.47961	D	2.645	0.77386	M	0.96	0.42888	T	-1.87	0.43717	N	0.763	0.76111	-0.7691	0.56907	T	0.203	0.55961	T	10	0.78815204	0.78426	D	0.017852	0.39707	T	0.259	0.57090	0.398	0.42590	0.811034351174	0.80926	0.467208398964936	0.46639	.	.	0.795973479748	0.81350	T	0.353995	0.72121	T	0.0407889	0.57148	T	-0.179186	0.56599	T	0.888951897621155	0.53961	D	0.928457	0.73631	D	0.40607628	0.61151	0.41964376	0.65952	0.40607628	0.61151	0.41964376	0.65952	-10.574	0.77271	D	.	.	0.781	0.76429	P	.	.	4.823570	0.78594	26.9	0.9367131463857612	0.23567	0.95548	0.65160	D	AEFDGBHCI	0.804071	0.72903	D	0.325505208218098	0.57460	3.913503	0.277729973607977	0.54242	3.589749	0.999999998195551	0.74766	0.542737	0.22433	0	0.596491	0.49125	0	0.685571	0.62057	0	0.63947	0.58350	0	.	.	4.59	3.38	0.37806	6.224000	0.72210	7.804000	0.69231	0.576000	0.29215	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1454:0.0:0.0:0.8546	10.514	0.44066	602	0.67834	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	258.3	43	chr13	99982726	.	T	C	258.3	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-5.333;DP=1129;ExcessHet=0.119;FS=169.358;InbreedingCoeff=-0.0474;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.85;ReadPosRankSum=0.28;SOR=8.838	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:106,39:145:99:.:.:271,0,2371:.	17	0	2	0
chr13	102737670	102737670	C	G	exonic	CCDC168	.	nonsynonymous SNV	CCDC168:NM_001146197:exon4:c.G13027C:p.V4343L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.296e-05	0.0009	1.28e-05	1.313e-05	3.19e-05	8.1e-06	6.68e-06	9.68e-06	7.91e-06	3.19e-05	0	0	0	0	0	1.589e-05	0	0	6.741e-06	1.989e-05	0	1.384e-05	1.492e-05	0	0	.	.	0	0	0	0	0	0	0	1.492e-05	0	0	.	.	.	0.044	0.49663	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.16028	.	.	.	.	.	.	.	0.08621222	0.14631	T	.	.	.	.	.	.	.	0.0806252709748	0.07271	0.08298472189106709	0.08233	.	.	0.344727694988	0.17142	T	.	.	.	-0.118802	0.33320	T	-0.408427	0.32407	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.211	0.43882	B	.	.	-0.018962	0.04151	0.996	0.36670154075650313	0.02372	0.03259	0.08291	N	AEFBI	.	.	.	.	.	.	.	.	.	0.929394545130418	0.26967	0.06567	0.01388	0	0.059962	0.00310	0	0.063197	0.01477	0	0.075334	0.01956	0	0.0516762	0.10602	2.37	-0.837	0.10221	0.258000	0.18156	-2.744000	0.03406	0.581000	0.30040	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.4159:0.0:0.5841	5.246	0.14815	952	0.10565	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2667	1262.59	138	chr13	102737670	.	C	G	1262.59	.	AC=8;AF=0.267;AN=30;BaseQRankSum=-5.507;DP=3002;ExcessHet=4.0268;FS=282.115;InbreedingCoeff=-0.3588;MLEAC=9;MLEAF=0.3;MQ=59.98;MQRankSum=0;QD=0.86;ReadPosRankSum=2.02;SOR=12.288	GT:AD:DP:GQ:PL	0/1:120,40:169:77:77,0,3009	7	0	8	4
chr13	102738219	102738219	C	G	exonic	CCDC168	.	nonsynonymous SNV	CCDC168:NM_001146197:exon4:c.G12478C:p.V4160L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.167e-05	0.0022	6.326e-05	3.979e-05	6.248e-05	4.177e-05	3.835e-05	5.038e-05	4.595e-05	0	2.807e-05	0	0	0	0	6.248e-05	3.499e-05	2.541e-05	1.334e-05	2.64e-05	1.303e-05	1.368e-05	1.486e-05	2.22e-06	8.3e-07	.	.	0	0	0	0	0	9.686e-05	0	1.486e-05	0	0	.	.	.	0.068	0.44106	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	0.19459	.	.	.	.	.	.	.	0.09865704	0.17852	T	.	.	.	.	.	.	.	0.0806252709748	0.07271	0.022759760475440007	0.02227	.	.	0.381038725376	0.22403	T	.	.	.	-0.129836	0.31521	T	-0.424277	0.30586	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.349	0.56507	A	.	.	0.179806	0.05674	2.123	0.42346026630768363	0.03115	0.07449	0.13466	N	AEFBI	.	.	.	.	.	.	.	.	.	0.921212253802681	0.26663	0.06567	0.01388	0	0.059962	0.00310	0	0.063197	0.01477	0	0.075334	0.01956	0	0.0512898	0.10407	3.08	0.322	0.15131	1.882000	0.39283	-0.398000	0.09429	0.454000	0.21428	0.029000	0.20367	0.000000	0.08366	0.017000	0.10941	0.0:0.5804:0.0:0.4196	5.169	0.14429	951	0.11083	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3438	1600.25	68	chr13	102738219	.	C	G	1600.25	.	AC=11;AF=0.344;AN=32;BaseQRankSum=-5.612;DP=3603;ExcessHet=8.9063;FS=275.066;InbreedingCoeff=-0.4786;MLEAC=12;MLEAF=0.375;MQ=60;MQRankSum=0;QD=0.74;ReadPosRankSum=2.08;SOR=13.102	GT:AD:DP:GQ:PL	0/1:135,50:194:99:131,0,3209	5	0	11	3
chr13	102747411	102747411	G	T	exonic	CCDC168	.	nonsynonymous SNV	CCDC168:NM_001146197:exon4:c.C3286A:p.P1096T	.	437	1030	54	1	0	56	0.026465	.	.	.	2814000	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.0059	0.00119808	0.0067	0.0010	0.0049	0	0.0294	0.0077	0.0161	0.0075	0.0017982	278	154602	rs143261898	0.0064	0.0061	0.0063	0.0065	0.0172	0.0063	0.0062	0.0145	0.0135	0.0011	0.0044	0.0057	2.801e-05	0.0049	0.0172	0.0069	0.0068	0.0057	0.0046	0.0046	0.0045	0.0046	0.0069	0.0043	0.0042	0.0063	0.0061	0.0013	0.0022	0.0040	0.0049	0.0006	0.0055	0.0170	0.0069	0.0071	0.0033	.	.	.	0.007	0.69154	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.08925	.	.	.	.	.	.	.	0.0028288662	0.00045	T	.	.	.	.	.	.	.	0.0806252709748	0.07271	0.03888631661266264	0.03834	.	.	0.26743721962	0.05809	T	.	.	.	-0.488708	0.00660	T	-0.467949	0.25737	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	0.41480	B	.	.	0.562261	0.09308	6.089	0.7472471519397319	0.10803	0.03453	0.08599	N	AEFBI	.	.	.	.	.	.	.	.	.	0.98821201155232	0.31445	0.06567	0.01388	0	0.059962	0.00310	0	0.063197	0.01477	0	0.075334	0.01956	0	0.111679	0.23776	4.56	-4.59	0.03158	-0.246000	0.08896	-1.417000	0.05489	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.769000	0.36481	0.226:0.1078:0.1881:0.4781	1.570	0.02455	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007418	0.000000	0.011905	0.014423	0.000000	0.000000	0.007246	0.015152	0.02632	1633.33	87	chr13	102747411	.	G	T	1633.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.454;DP=1873;ExcessHet=0;FS=0.652;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.56;ReadPosRankSum=-0.96;SOR=0.585	GT:AD:DP:GQ:PL	0/1:68,62:130:99:1647,0,1825	18	0	1	0
chr13	113075100	113075100	C	T	exonic	MCF2L	.	nonsynonymous SNV	MCF2L:NM_001366645:exon9:c.C1105T:p.R369W,MCF2L:NM_001366646:exon9:c.C1105T:p.R369W,MCF2L:NM_001112732:exon11:c.C1219T:p.R407W,MCF2L:NM_001320815:exon11:c.C1213T:p.R405W,MCF2L:NM_001320816:exon11:c.C1231T:p.R411W,MCF2L:NM_001320817:exon11:c.C1213T:p.R405W,MCF2L:NM_001366644:exon11:c.C1132T:p.R378W,MCF2L:NM_024979:exon11:c.C1213T:p.R405W	.	423	1097	2	0	0	2	0.000910747	.	.	.	702609	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.225	.	0.0070	0.0133786	0.0069	0.0235	0.0300	0.0203	0.0003	0.0004	0.0056	0.0016	0.0064553	998	154602	rs74926660	0.0031	0.0031	0.0034	0.0029	0.0508	0.0031	0.0030	0.0489	0.0482	0.0249	0.0257	0	0.0508	0.0002	0.0010	0.0001	0.0046	0.0015	0.0087	0.0088	0.0091	0.0083	0.0267	0.0083	0.0082	0.0231	0.0217	0.0225	0	0.0127	0	0.0267	0	0	0.0003	0.0137	0.0025	0.001	0.91255	D	0.001	0.83351	D	0.999	0.77913	D	0.954	0.69447	D	0.196041	0.16722	N	0.622889	0.999999	0.08975	N	2.85	0.82803	M	2.24	0.17923	T	-6.23	0.90490	D	0.305	0.39153	-1.0841	0.06572	T	0.047	0.20116	T	10	0.007579595	0.00172	T	.	.	.	0.237	0.54074	.	.	0.442105453903	0.43831	0.391633898260644	0.39078	0.850202333016	0.68492	0.297303408384	0.10000	T	0.200609	0.55824	T	-0.439569	0.01301	T	-0.351538	0.39030	T	0.0666412395653882	0.08172	T	0.992151	0.98441	D	0.30530867	0.53376	0.40855038	0.65169	0.30530867	0.53376	0.40855038	0.65169	-6.353	0.49782	T	.	.	0.122	0.25592	B	.;.;.;.;.;.	.;.;.;.;.;.	3.746963	0.53689	23.4	0.99900700840135648	0.97275	0.68570	0.33852	D	AEFDBI	0.528010	0.54971	D	0.38452634315618	0.60583	4.248836	0.272577015205012	0.53943	3.561066	0.958468407507523	0.28364	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.542086	0.14980	0	.	.	4.88	4.88	0.63131	2.301000	0.43289	0.959000	0.22978	-0.184000	0.09925	0.266000	0.25007	0.000000	0.08366	0.014000	0.10232	0.0:0.8458:0.1542:0.0	13.745	0.62351	994	0.00715	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05263	3180.81	35	chr13	113075100	.	C	T	3180.81	.	AC=2;AF=0.053;AN=38;DP=734;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.88;SOR=1.125	GT:AD:DP:GQ:PL	1/1:0,103:103:99:3208,309,0	18	1	0	0
chr13	113973975	113973975	G	T	exonic	C13orf46	.	nonsynonymous SNV	C13orf46:NM_001365455:exon1:c.C23A:p.T8K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.771e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13268769	0.25254	T	.	.	.	.	.	.	.	.	.	0.021138606756350438	0.02066	.	.	.	.	.	0.033707	0.23026	T	.	.	.	.	.	.	.	.	.	.	.	.	0.041527513	0.06132	0.11816126	0.28522	0.041527513	0.06132	0.11816126	0.28522	-3.043	0.10651	T	.	.	0.243	0.47741	B	.	.	1.131430	0.15179	11.65	0.73668406479087556	0.10412	0.06634	0.12651	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.999947594726716	0.47345	0.062308	0.01283	0	0.037452	0.00068	0	0.074216	0.02223	0	0.089874	0.02613	0	0.126772	0.25351	4.56	-0.865	0.10122	0.421000	0.20999	0.892000	0.22480	0.616000	0.49467	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.4272:0.1665:0.4064:0.0	4.352	0.10597	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	.	.	.	.	.	.	.	.	0.05882	32.45	1	chr13	113973975	.	G	T	32.45	.	AC=2;AF=0.059;AN=34;DP=48;ExcessHet=0;FS=0;InbreedingCoeff=0.3355;MLEAC=1;MLEAF=0.029;MQ=60;QD=16.23;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	16	1	0	2
chr14	23389488	23389488	C	G	exonic	MYH6	.	nonsynonymous SNV	MYH6:NM_002471:exon28:c.G3883C:p.E1295Q	Atrial septal defect 3;Cardiomyopathy, dilated, 1EE;Cardiomyopathy, hypertrophic, 14	0	1492	30	0	0	30	0.00995355	.	.	.	53659	Hypertrophic_cardiomyopathy_14|Cardiomyopathy|not_specified|Restrictive_cardiomyopathy|Hypertrophic_cardiomyopathy|Cardiovascular_phenotype|not_provided	MONDO:MONDO:0013197,MedGen:C2750467,OMIM:613251|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN169374|Human_Phenotype_Ontology:HP:0001723,MONDO:MONDO:0005201,MeSH:D002313,MedGen:C0007196,Orphanet:217632|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|MedGen:CN230736|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.768	.	0.0030	0.00419329	0.0032	0.0006	0.0020	0.0175	0.0002	0.0026	0.0011	0.0024	0.003247	502	154602	rs34935550	0.0031	0.0031	0.0032	0.0031	0.0125	0.0031	0.0030	0.0116	0.0112	0.0007	0.0025	0.0015	0.0125	0.0002	0.0028	0.0031	0.0036	0.0022	0.0027	0.0027	0.0028	0.0027	0.0166	0.0025	0.0024	0.0138	0.0127	0.0006	0	0.0031	0.0017	0.0166	0.0003	0.0102	0.0033	0.0033	0.0027	0.001	0.78490	D	0.031	0.53788	D	0.993	0.65571	D	0.952	0.69102	D	.	.	.	.	0.999999	0.58761	D	3.02	0.86243	M	-1.55	0.81727	D	-2.12	0.48184	N	0.422	0.49420	0.499	0.90527	D	0.623	0.86718	D	9	0.010231346	0.00228	T	.	.	.	0.768	0.92170	.	.	0.925674000131	0.92491	0.4420870300183488	0.44125	0.787938224428	0.65625	0.565877318382	0.48096	T	0.664995	0.89991	D	-0.234432	0.16067	T	-0.0965478	0.63665	T	0.0172787489390638	0.00469	T	0.955504	0.83071	D	0.2839171	0.51421	0.34163815	0.59901	0.28292412	0.51327	0.43828914	0.67220	-14.923	0.95669	D	0.5510836441010479	0.61968	0.363	0.57386	A	.;.	.;.	4.496248	0.70279	25.5	0.99857872241100321	0.93639	0.98380	0.82188	D	AEFBI	0.962112	0.98360	D	0.862928964111963	0.89831	10.136	0.775668712946799	0.88058	9.441128	0.999999999913264	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.63	4.63	0.57175	7.764000	0.84130	7.576000	0.60835	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.941000	0.48210	0.0:1.0:0.0:0.0	17.870	0.88723	368	0.84463	Myosin tail;Myosin tail	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002518	0.000000	0.001359	0.000000	0.000000	0.008621	0.006098	0.003788	0.02632	2615.33	35	chr14	23389488	.	C	G	2615.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.147;DP=853;ExcessHet=0;FS=3.405;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.69;ReadPosRankSum=0.133;SOR=0.657	GT:AD:DP:GQ:PL	0/1:82,96:178:99:2629,0,2237	18	0	1	0
chr14	35826609	35826609	G	C	exonic	BRMS1L	.	nonsynonymous SNV	BRMS1L:NM_032352:exon1:c.G93C:p.E31D	.	416	1091	14	1	0	16	0.00727934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.00976535292076	0.0005	.	0.0012	0	0.0016	0.0001	0	0.0010	0.0063	0.0036	0.0009056	140	154602	rs140117219	0.0006	0.0006	0.0005	0.0007	0.0047	0.0006	0.0006	0.0033	0.0028	5.977e-05	0.0011	3.85e-05	2.523e-05	1.879e-05	0.0047	0.0004	0.0008	0.0030	0.0005	0.0005	0.0005	0.0005	0.0025	0.0004	0.0004	0.0014	0.0011	4.809e-05	0	0.0008	0	0.0002	0	0	0.0007	0.0009	0.0025	0.596	0.05703	T	0.634	0.07105	T	0.0	0.02946	B	0.001	0.04355	B	0.000000	0.84330	D	0.049557	0.999646	0.81001	D	0.61	0.15665	N	.	.	.	-0.08	0.08187	N	0.099	0.08088	-1.0884	0.05804	T	0.072	0.29291	T	9	0.005649805	0.00125	T	0.009765	0.25472	T	0.102	0.29158	0.177	0.08379	0.363356657567	0.35953	0.05232356874264919	0.05174	0.56158804593	0.52659	0.777621269226	0.78569	T	0.00913	0.08331	T	-0.49808	0.00586	T	-0.491598	0.23223	T	0.0387728366072484	0.03469	T	0.829117	0.49388	T	0.15359467	0.34808	0.16723788	0.38593	0.15359467	0.34807	0.16723788	0.38592	-4.304	0.28232	T	.	.	0.063	0.01534	B	.	.	2.302037	0.29454	18.13	0.87328218550284153	0.17149	0.82679	0.41874	D	ALL	0.307559	0.41440	N	-0.447783479273129	0.23815	1.281601	-0.244502811683357	0.29962	1.682906	0.999999999999989	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.38	4.25	0.49658	0.818000	0.26952	2.704000	0.34183	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.2097:0.0:0.7903:0.0	8.535	0.32518	671	0.60868	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.002717	0.000000	0.000000	0.000000	0.006173	0.003788	0.05263	1704.81	35	chr14	35826609	.	G	C	1704.81	.	AC=2;AF=0.053;AN=38;DP=696;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=27.95;SOR=0.941	GT:AD:DP:GQ:PL	1/1:0,61:61:99:1732,183,0	18	1	0	0
chr14	58138194	58138194	A	G	exonic	ARMH4	.	nonsynonymous SNV	ARMH4:NM_001001872:exon2:c.T1165C:p.S389P,ARMH4:NM_001320173:exon2:c.T1165C:p.S389P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.182	0.00991569293664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.46129	D	0.003	0.76473	D	0.989	0.62824	D	0.885	0.62825	P	0.214351	0.16289	N	0.566984	1	0.08975	N	.	.	.	1.68	0.27184	T	-2.49	0.54217	N	0.17	0.18103	-1.0535	0.13440	T	0.102	0.37568	T	10	0.1590898	0.29900	T	0.009916	0.25833	T	0.182	0.45420	0.374	0.38667	0.0666544352282	0.05500	0.13696643335137432	0.13620	0.121842658127	0.13733	.	.	.	0.025561	0.19086	T	-0.0273703	0.47799	T	-0.277092	0.47102	T	0.522264003753662	0.33449	D	0.49655	0.15423	T	0.24250986	0.47179	0.2958181	0.55614	0.24250986	0.47179	0.2958181	0.55613	-4.12	0.25584	T	.	.	0.088	0.11749	B	.	.	1.334307	0.17401	13.14	0.99607788779664785	0.74634	0.04756	0.10462	N	AEFGBCI	0.103078	0.20660	N	-0.222407257448638	0.32215	1.814444	-0.420636230168889	0.24392	1.335448	0.999940150298763	0.47345	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.620846	0.47308	0	.	.	5.86	2.08	0.26079	0.156000	0.16200	1.252000	0.25176	0.751000	0.87719	0.001000	0.13787	0.087000	0.22477	0.167000	0.20881	0.4904:0.4346:0.075:0.0	7.430	0.26296	875	0.30485	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	243.02	158	chr14	58138194	.	A	G	243.02	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-4.789;DP=1733;ExcessHet=0.119;FS=120.485;InbreedingCoeff=-0.0615;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=0.86;ReadPosRankSum=1.03;SOR=9.869	GT:AD:DP:GQ:PL	0/1:96,29:125:99:238,0,2581	17	0	2	0
chr14	58213644	58213644	T	C	exonic	ACTR10	.	nonsynonymous SNV	ACTR10:NM_018477:exon6:c.T464C:p.I155T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.324	0.0362747916202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0026	0.0003	0.0002	0.0003	0.0002	0.0002	0.0003	0.0003	0.0002	0	8.123e-05	7.948e-05	1.955e-05	0	0.0003	0.0002	7.24e-05	6.639e-06	2.641e-05	0	1.359e-05	1.482e-05	0	0	.	.	0	0	0	0	0	0	0	1.482e-05	0	0	0.35	0.12305	T	0.45	0.12957	T	0.0	0.02946	B	0.001	0.04355	B	0.000051	0.53742	D	0.197305	0.974077	0.39075	D	0.06	0.08197	N	-3.44	0.94428	D	-1.31	0.32791	N	0.456	0.49328	0.114	0.84424	D	0.666	0.88403	D	10	0.36079857	0.52715	T	0.036275	0.56887	D	0.324	0.64624	0.434	0.48500	0.993195394259	0.99311	0.5930593215126997	0.59235	0.374889918543	0.38946	0.782578408718	0.79317	T	0.399172	0.75708	T	0.0213512	0.54564	T	-0.207107	0.53971	T	0.59854531288147	0.36343	D	0.833317	0.50212	T	0.060931925	0.12560	0.09373129	0.22154	0.060931925	0.12560	0.09373129	0.22154	-5.421	0.41121	T	.	.	0.486	0.63951	A	.	.	3.186553	0.43278	21.7	0.8580340382623457	0.16122	0.91508	0.53678	D	AEFBI	0.213280	0.33888	N	-0.111420387238393	0.36894	2.138883	0.0755270437198708	0.43321	2.636326	0.9557581108309	0.28208	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.8	5.8	0.92081	4.582000	0.60668	7.707000	0.66598	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.500000	0.29017	0.0:0.0786:0.0:0.9214	9.930	0.40688	881	0.29269	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4211	2170.86	43	chr14	58213644	.	T	C	2170.86	.	AC=16;AF=0.421;AN=38;BaseQRankSum=-2.448;DP=1186;ExcessHet=25.4433;FS=260.724;InbreedingCoeff=-0.7123;MLEAC=16;MLEAF=0.421;MQ=60;MQRankSum=0;QD=2.13;ReadPosRankSum=1.37;SOR=11.67	GT:AD:DP:GQ:PL	0/1:44,12:56:16:16,0,982	3	0	16	0
chr14	64158707	64158707	T	C	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_015180:exon86:c.T15875C:p.M5292T,SYNE2:NM_182914:exon86:c.T15875C:p.M5292T	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.00538161103081	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1245310548	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.57e-06	6.566e-06	0	1.345e-05	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.099	0.45039	T	0.026	0.60972	D	0.013	0.16609	B	0.009	0.14300	B	0.041119	0.23984	N	0.401918	0.999988	0.54805	D	1.655	0.42436	L	1.39	0.33842	T	-2.65	0.59710	D	0.474	0.55280	-1.0841	0.06572	T	0.073	0.29675	T	10	0.19718808	0.35641	T	0.005382	0.13801	T	0.143	0.38195	0.536	0.64585	0.319402600006	0.31557	0.3253330187294607	0.32446	0.0539322971594	0.05956	0.529864430428	0.43015	T	0.035396	0.50140	T	-0.123387	0.32572	T	-0.415013	0.31648	T	0.172842237501572	0.18771	T	0.611639	0.23235	T	0.08136348	0.18690	0.15216553	0.35812	0.08136348	0.18690	0.15216553	0.35811	-3.679	0.21014	T	.	.	0.191	0.41000	B	.;.;.;.;.	.;.;.;.;.	1.354212	0.17625	13.27	0.893201424526746	0.18696	0.58238	0.30589	D	AEFGBI	0.052091	0.09265	N	-0.429603788888434	0.24437	1.31946	-0.336983711819935	0.26915	1.489921	0.0805734006329366	0.15850	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.645948	0.59608	0	.	.	5.77	3.35	0.37468	0.797000	0.26660	0.426000	0.18273	0.661000	0.55757	1.000000	0.71638	0.995000	0.32472	1.000000	0.97212	0.0:0.0746:0.1466:0.7788	7.200	0.25051	540	0.73006	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4412	2933.03	148	chr14	64158707	.	T	C	2933.03	.	AC=15;AF=0.441;AN=34;BaseQRankSum=-3.339;DP=2339;ExcessHet=20.8569;FS=186.487;InbreedingCoeff=-0.7246;MLEAC=16;MLEAF=0.471;MQ=60;MQRankSum=0;QD=1.57;ReadPosRankSum=0.532;SOR=11.003	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,23:116:14:0|1:64158707_T_C:14,0,2924:64158707	2	0	15	2
chr14	64158708	64158708	G	C	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_015180:exon86:c.G15876C:p.M5292I,SYNE2:NM_182914:exon86:c.G15876C:p.M5292I	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.0083565949609	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.45039	D	0.033	0.53072	D	0.325	0.33132	B	0.108	0.31289	B	0.041119	0.23984	N	0.401918	1	0.81001	D	2.35	0.67516	M	1.39	0.33842	T	-1.61	0.43524	N	0.431	0.49965	-1.0717	0.09043	T	0.088	0.33968	T	10	0.2520115	0.42548	T	0.008357	0.22130	T	0.077	0.22490	0.515	0.61459	0.404034981753	0.40020	0.26592724106991794	0.26505	0.0746054716563	0.08373	0.455664932728	0.32718	T	0.114551	0.49765	T	-0.102008	0.36092	T	-0.384304	0.35219	T	0.651877224445343	0.38542	D	0.879912	0.59649	D	0.19624485	0.41445	0.17938405	0.40669	0.19624485	0.41444	0.17938405	0.40668	-3.183	0.12274	T	.	.	0.388	0.58884	A	.;.;.;.;.	.;.;.;.;.	2.298733	0.29410	18.11	0.97187594042519665	0.32749	0.88851	0.48981	D	AEFGBI	0.256398	0.37533	N	-0.124265557851592	0.36337	2.099065	-0.0236316895668092	0.38649	2.280163	0.900501724960891	0.26077	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.645948	0.59608	0	.	.	5.77	4.86	0.62624	4.416000	0.59567	4.462000	0.43463	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.8511:0.1489	14.318	0.66020	540	0.73006	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1111	1526.87	42	chr14	64158708	.	G	C	1526.87	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-4.476;DP=1445;ExcessHet=2.9153;FS=183.125;InbreedingCoeff=-0.2443;MLEAC=4;MLEAF=0.111;MQ=60;MQRankSum=0;QD=1.92;ReadPosRankSum=0.927;SOR=10.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,23:116:14:0|1:64158707_T_C:14,0,2924:64158707	14	0	4	1
chr14	73934324	73934324	C	T	exonic	FAM161B	.	nonsynonymous SNV	FAM161B:NM_152445:exon9:c.G1876A:p.A626T	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.00138162215319	.	.	4.119e-05	0	0	0	0	0	0	0.0003	3.23e-05	5	154602	rs756164722	1.71e-05	1.71e-05	6.806e-06	2.75e-05	0.0003	1.174e-05	9.92e-06	0.0002	0.0002	0	0	0	0	0	0	0	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.846	0.03548	T	.	.	.	.	.	.	0.719232	0.09949	N	0.844518	1	0.08975	N	.	.	.	2.58	0.13434	T	0.24	0.04533	N	0.013	0.00142	-0.9461	0.41632	T	0.010	0.03856	T	10	0.03488958	0.01715	T	0.001382	0.02011	T	0.049	0.13647	.	.	0.0297737177859	0.01360	.	.	0.0607206208309	0.06755	0.215834051371	0.01083	T	.	.	.	-0.647882	0.00075	T	-0.872222	0.00722	T	0.89759749174118	0.54953	D	0.408959	0.10549	T	.	.	.	.	.	.	.	.	-3.876	0.21943	T	.	.	.	.	.	.	.	0.043315	0.04589	1.265	0.79723791140933908	0.12872	0.00335	0.01744	N	AEFBI	0.021008	0.00889	N	-1.36972431415942	0.02926	0.1299269	-1.31776526480773	0.04201	0.1976384	0.0885025695442015	0.16062	0.562547	0.31514	0	0.379588	0.06130	0	0.602189	0.34648	0	0.635551	0.53088	0	.	.	4.74	-2.34	0.06321	-0.586000	0.05880	0.127000	0.14995	-0.181000	0.10308	0.000000	0.06391	0.732000	0.26423	0.930000	0.46718	0.3163:0.2015:0.1624:0.3198	0.076	0.00024	398	0.82839	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	588.33	36	chr14	73934324	.	C	T	588.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.63;DP=690;ExcessHet=0;FS=2.219;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.32;ReadPosRankSum=-1.175;SOR=0.561	GT:AD:DP:GQ:PL	0/1:30,27:57:99:602,0,709	18	0	1	0
chr14	74552291	74552291	G	A	exonic	LTBP2	.	nonsynonymous SNV	LTBP2:NM_000428:exon6:c.C1295T:p.P432L	Glaucoma 3, primary congenital, D;Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, Autosomal recessive;Weill-Marchesani syndrome 3, recessive, Autosomal recessive	0	1502	19	1	0	21	0.00694215	.	.	.	132462	Glaucoma_3,_primary_congenital,_D|Weill-Marchesani_syndrome|Microspherophakia_and/or_megalocornea,_with_ectopia_lentis_and_with_or_without_secondary_glaucoma|Weill-Marchesani_syndrome_3|LTBP2-related_disorder|not_provided|Pseudoexfoliation_glaucoma	MONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086,Orphanet:98976|MONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS277600,Orphanet:3449|MONDO:MONDO:0009633,MedGen:C3538951,OMIM:251750,Orphanet:238763|MONDO:MONDO:0013899,MedGen:C3553785,OMIM:614819,Orphanet:3449|.|MedGen:C3661900|MONDO:MONDO:0008327,MedGen:C0206368,OMIM:177650	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.086	.	0.0005	0.00219649	0.0019	0.0004	8.705e-05	0.0001	0	0.0011	0.0023	0.0085	0.0015782	244	154602	rs137854861	0.0010	0.0010	0.0008	0.0012	0.0077	0.0010	0.0009	0.0072	0.0070	0.0003	0.0006	3.826e-05	0	3.804e-05	0.0071	0.0006	0.0015	0.0077	0.0009	0.0009	0.0008	0.0010	0.0087	0.0008	0.0007	0.0066	0.0059	0.0002	0	0.0019	0.0003	0.0002	0	0.0068	0.0008	0.0005	0.0087	0.786	0.03235	T	0.175	0.30045	T	0.111	0.26235	B	0.011	0.15521	B	0.140672	0.18302	N	0.397320	0.999997	0.08975	N	1.275	0.32135	L	0.82	0.48142	T	-2.96	0.61722	D	0.66	0.79792	-1.0492	0.14621	T	0.082	0.32295	T	10	0.004658282	0.00098	T	.	.	.	0.086	0.25016	.	.	0.448696893172	0.44491	0.5296310797705625	0.52887	0.158631535098	0.17909	0.457526087761	0.32971	T	0.552772	0.84886	D	-0.447621	0.01166	T	-0.410485	0.32170	T	0.029442969772891	0.01904	T	0.79622	0.43953	T	0.049320247	0.08740	0.061357796	0.11835	0.053248297	0.10048	0.061040673	0.11723	-5.75	0.44136	T	.	.	0.081	0.12418	B	.;.	.;.	3.292165	0.45157	22.1	0.91778519781276557	0.21081	0.67916	0.33607	D	AEFDBHCI	0.362874	0.45197	N	-0.567106761961793	0.19950	1.048139	-0.466526081254271	0.23081	1.256938	0.999982259942032	0.51787	0.722319	0.85440	0	0.59043	0.45803	0	0.535252	0.11790	0	0.735409	0.98432	0	.	.	4.9	2.68	0.30839	4.905000	0.62982	7.197000	0.57788	-0.137000	0.12594	1.000000	0.71638	1.000000	0.68203	0.415000	0.27117	0.2558:0.0:0.7442:0.0	9.475	0.38029	257	0.89904	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006546	0.000000	0.006793	0.000000	0.000000	0.000000	0.009146	0.015152	0.02632	802.33	42	chr14	74552291	.	G	A	802.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.005;DP=836;ExcessHet=0;FS=7.313;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.55;ReadPosRankSum=0.384;SOR=0.882	GT:AD:DP:GQ:PL	0/1:48,36:84:99:816,0,1148	18	0	1	0
chr14	92941732	92941732	G	T	exonic	ITPK1	.	nonsynonymous SNV	ITPK1:NM_001363707:exon9:c.C717A:p.S239R,ITPK1:NM_001142593:exon11:c.C1074A:p.S358R,ITPK1:NM_014216:exon11:c.C1074A:p.S358R	.	417	1099	6	0	0	6	0.00272232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.0290372094218	.	0.000399361	0.0012	0	0.0007	0	0	0.0005	0.0076	0.0031	0.0003493	54	154602	rs567443586	0.0003	0.0003	0.0002	0.0003	0.0025	0.0002	0.0002	0.0023	0.0021	0	0.0002	0	0	0	0.0022	9.972e-05	0.0003	0.0025	0.0002	0.0002	8.99e-05	0.0002	0.0027	0.0001	9.229e-05	0.0016	0.0013	0	0	0	0	0	0	0.0034	0.0001	0	0.0027	0.019	0.50676	D	0.041	0.51112	D	0.03	0.20002	B	0.03	0.21741	B	0.509576	0.11859	N	0.807672	0.976324	0.81001	D	1.65	0.42232	L	.	.	.	-0.74	0.25118	N	0.156	0.20925	-0.7337	0.58776	T	0.210	0.56973	T	9	0.01060459	0.00235	T	0.029037	0.51617	D	0.071	0.20720	0.415	0.45380	0.128874641272	0.12493	0.3961380180446271	0.39528	0.558886656677	0.52455	0.692266702652	0.66032	T	0.110339	0.42496	T	-0.436196	0.01362	T	-0.404889	0.32817	T	0.0412309674587538	0.03914	T	.	.	.	0.0807201	0.18512	0.09399475	0.22228	0.0807201	0.18511	0.09399475	0.22227	-3.783	0.20551	T	.	.	0.217	0.44732	B	.;.;.	.;.;.	1.792478	0.22787	15.76	0.99428485580061599	0.64130	0.97618	0.75940	D	AEFBI	0.617684	0.60377	D	-0.127428297000857	0.36200	2.08932	-0.0229456387727947	0.38680	2.282391	0.999999550149433	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.554053	0.18673	1	0.655142	0.61905	0	.	.	4.49	3.58	0.40133	2.208000	0.42436	3.535000	0.38974	-0.123000	0.13640	1.000000	0.71638	1.000000	0.68203	0.098000	0.18187	0.0817:0.0:0.9183:0.0	13.324	0.59887	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	0.002030	0.000000	0.004087	0.000000	0.000000	0.000000	0.003067	0.000000	0.05263	1768.81	33	chr14	92941732	.	G	T	1768.81	.	AC=2;AF=0.053;AN=38;DP=681;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=32.76;SOR=1.22	GT:AD:DP:GQ:PL	1/1:0,54:54:99:1796,162,0	18	1	0	0
chr14	104952976	104952976	C	A	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G2175T:p.E725D,AHNAK2:NM_138420:exon7:c.G2475T:p.E825D	.	425	1066	31	0	0	31	0.0143319	.	.	.	2333959	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.028	0.00512438298702	.	.	0.0004	0.0012	0.0003	0	0.0002	0.0005	0	0	0.0010373	27	26028	rs201734490	6.088e-05	0.0032	7.382e-05	4.781e-05	0.0014	4.995e-05	4.666e-05	0.0007	0.0005	0.0005	0.0002	8.15e-05	0.0001	5.71e-05	0.0014	3.031e-05	0.0002	2.362e-05	0.0008	0.0041	0.0007	0.0008	0.0025	0.0007	0.0006	0.0014	0.0012	0.0016	0	0.0006	0.0006	0.0025	9.681e-05	0	0.0003	0.0016	0.0007	0.689	0.04315	T	1.0	0.01155	T	0.001	0.07471	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	-1.04	0.01097	N	6.56	0.00523	T	0.45	0.03191	N	0.029	0.00666	-0.9666	0.37894	T	0.000	0.00114	T	9	0.0086449385	0.00196	T	0.005124	0.13001	T	0.028	0.06331	.	.	0.0138822411134	0.00435	0.007317679835181649	0.00697	.	.	0.226426288486	0.01714	T	0.016018	0.13319	T	-0.655655	0.00067	T	-0.84332	0.01050	T	0.00203408097626173	0.00021	T	0.269973	0.04523	T	0.019858923	0.00526	0.032933876	0.02107	0.019858923	0.00526	0.032933876	0.02107	-0.032	0.00361	T	.	.	0.046	0.00066	B	.	.	-2.549883	0.00028	0.001	0.14482228779594011	0.00321	0.00449	0.02181	N	AEFBI	.	.	.	-2.56577318146295	0.00011	0.0004852454	-2.55233232990428	0.00017	0.0007689442	0.983344733312058	0.30544	0.706548	0.73137	0	0.588015	0.36545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	3.61	-7.22	0.01335	-3.536000	0.00489	-20.000000	0.00162	-5.109000	0.00014	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4831:0.2799:0.1433:0.0937	3.667	0.07794	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.016578	0.031250	0.019022	0.020661	0.000000	0.017241	0.009494	0.007692	0.05263	406.83	91	chr14	104952976	.	C	A	406.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-4.899;DP=3111;ExcessHet=0.119;FS=1.703;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=58.22;MQRankSum=-19.53;QD=0.31;ReadPosRankSum=2.55;SOR=0.731	GT:AD:DP:GQ:PL	0/1:548,82:630:99:247,0,15432	17	0	2	0
chr14	105392681	105392681	C	T	exonic	PACS2	.	nonsynonymous SNV	PACS2:NM_001243127:exon22:c.C2048T:p.A683V,PACS2:NM_015197:exon22:c.C2273T:p.A758V,PACS2:NM_001100913:exon23:c.C2318T:p.A773V	.	427	1079	15	1	0	17	0.00781609	.	.	.	1157188	PACS2-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.043	0.0113838267332	.	0.000199681	0.0011	0.0003	0.0002	0	0	0.0001	0.0013	0.0070	0.0007827	121	154602	rs587631980	0.0004	0.0004	0.0003	0.0006	0.0058	0.0004	0.0004	0.0054	0.0052	2.988e-05	8.957e-05	0	0	0	0.0031	9.174e-05	0.0005	0.0058	0.0002	0.0002	7.71e-05	0.0004	0.0056	0.0002	0.0002	0.0039	0.0034	0	0	6.536e-05	0	0	0	0.0034	0.0001	0	0.0056	0.31	0.16251	T	0.575	0.13953	T	0.011	0.15914	B	0.003	0.13708	B	0.011582	0.29474	N	0.349478	0.999999	0.20970	N	-0.345	0.03330	N	0.94	0.43672	T	-1.58	0.38151	N	0.175	0.18784	-1.0545	0.13172	T	0.050	0.21417	T	10	0.004993379	0.00107	T	0.011384	0.28946	T	0.043	0.11576	.	.	0.082315109003	0.07666	0.11558417568226456	0.11486	.	.	0.376492708921	0.21758	T	0.092632	0.39045	T	-0.627114	0.00100	T	-0.671248	0.07528	T	0.0351481681706273	0.02834	T	0.288071	0.05188	T	0.028653009	0.02235	0.043809496	0.05536	0.028653009	0.02234	0.043809496	0.05536	-5.529	0.42361	T	0.13492756935295075	0.14620	0.068	0.03515	B	.;.;.;.	.;.;.;.	1.248524	0.16447	12.55	0.98758479898116158	0.45770	0.06551	0.12564	N	AEFBI	0.080184	0.16208	N	-0.9206171464811	0.10360	0.4947208	-0.899932978305083	0.12096	0.620213	0.999924828087517	0.46280	0.706298	0.61202	0	0.709663	0.81188	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	4.0	1.67	0.23149	0.912000	0.28220	1.394000	0.26140	-0.171000	0.11205	0.001000	0.13787	0.001000	0.17328	0.024000	0.12247	0.0:0.6322:0.0:0.3678	6.193	0.19750	970	0.06235	.;.;.;.	.	.	.	.	.	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	0.003024	0.000000	0.001362	0.000000	0.050000	0.000000	0.006098	0.007576	0.02632	1057.33	33	chr14	105392681	.	C	T	1057.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.27;DP=715;ExcessHet=0;FS=0.869;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.73;ReadPosRankSum=0.404;SOR=0.528	GT:AD:DP:GQ:PL	0/1:35,42:77:99:1071,0,847	18	0	1	0
chr15	20534664	20534665	CT	0	exonic	GOLGA6L6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3889	434.18	45	chr15	20534664	.	CT	*	434.18	.	AC=14;AF=0.389;AN=36;BaseQRankSum=2.28;DP=1323;ExcessHet=20.8569;FS=1.158;InbreedingCoeff=-0.6889;MLEAC=14;MLEAF=0.389;MQ=51.72;MQRankSum=0.854;QD=0.68;ReadPosRankSum=-3.234;SOR=0.835	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:39,12:51:99:.:.:401,0,1518:.	4	0	14	1
chr15	20534666	20534686	CCCTTATCTTCTCCTCCTGCT	0	exonic	GOLGA6L6	.	.	.	.	599	689	226	4	4	238	0.145161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4118	434.55	45	chr15	20534666	.	CCCTTATCTTCTCCTCCTGCT	*	434.55	.	AC=14;AF=0.412;AN=34;BaseQRankSum=0.882;DP=1318;ExcessHet=20.8569;FS=1.158;InbreedingCoeff=-0.7273;MLEAC=15;MLEAF=0.441;MQ=51.07;MQRankSum=1.13;QD=0.68;ReadPosRankSum=-3.191;SOR=0.824	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:39,12:51:99:.:.:401,0,1518:.	3	0	14	2
chr15	20534693	20534693	T	0	exonic	GOLGA6L6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3947	327.06	45	chr15	20534693	.	T	*	327.06	.	AC=15;AF=0.395;AN=38;BaseQRankSum=0.078;DP=1294;ExcessHet=25.4433;FS=1.177;InbreedingCoeff=-0.7344;MLEAC=15;MLEAF=0.395;MQ=50.05;MQRankSum=0.956;QD=0.47;ReadPosRankSum=-1.583;SOR=0.833	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:39,12:51:99:.:.:401,0,1518:.	4	0	15	0
chr15	20534699	20534705	CCTCCTG	0	exonic	GOLGA6L6	.	.	.	.	504	770	47	2	199	250	0.0320553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3947	276.96	45	chr15	20534699	.	CCTCCTG	*	276.96	.	AC=15;AF=0.395;AN=38;BaseQRankSum=0.808;DP=1281;ExcessHet=25.4433;FS=1.176;InbreedingCoeff=-0.7274;MLEAC=15;MLEAF=0.395;MQ=40.86;MQRankSum=-1.387;QD=0.4;ReadPosRankSum=0.802;SOR=0.807	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:39,12:51:99:.:.:401,0,1518:.	4	0	15	0
chr15	20536401	20536401	G	C	exonic	GOLGA6L6	.	nonsynonymous SNV	GOLGA6L6:NM_001145004:exon7:c.C685G:p.Q229E	.	611	860	46	5	0	56	0.0315315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.00125694464534	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1458486201	0.0079	0.0074	0.0076	0.0082	0.0382	0.0078	0.0077	0.0331	0.0311	0.0019	0.0161	0.0452	3.522e-05	0.0024	0.0382	0.0070	0.0131	0.0079	0.0122	0.0096	0.0120	0.0123	0.0362	0.0115	0.0113	0.0322	0.0307	0.0022	0.0019	0.0362	0.0658	0	0.0025	0.0330	0.0126	0.0347	0.0083	.	.	.	0.138	0.33780	T	.	.	.	.	.	.	.	.	.	.	0.999997	0.08975	N	.	.	.	.	.	.	.	.	.	0.083	0.05929	-1.0112	0.26541	T	0.023	0.09741	T	8	0.00540784	0.00119	T	0.001257	0.01708	T	.	.	.	.	0.0138822411134	0.00435	0.0049867945419221	0.00470	.	.	0.586864173412	0.51052	T	0.014193	0.12131	T	-0.237202	0.15708	T	-0.578501	0.14679	T	0.262614488601685	0.23428	T	0.546045	0.18695	T	0.16264509	0.36354	0.16305888	0.37845	0.16264509	0.36353	0.16305888	0.37844	-6.442	0.49836	T	.	.	0.110	0.21315	B	.	.	1.753451	0.22303	15.57	0.67537901567902892	0.08385	0.09628	0.15341	N	AEFI	0.050648	0.08872	N	-0.628359280263332	0.18096	0.9367552	-0.808476766559945	0.14290	0.7459121	1.09775152741156E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.109	0.109	0.13884	1.635000	0.36747	3.018000	0.35990	0.345000	0.19837	0.971000	0.34370	0.996000	0.32793	0.008000	0.08271	.	.	.	1000	0.00083	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07895	2312.79	20	chr15	20536401	.	G	C	2312.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.585;DP=823;ExcessHet=0.3672;FS=3.284;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=47.94;MQRankSum=1.57;QD=7.79;ReadPosRankSum=1.26;SOR=0.892	GT:AD:DP:GQ:PL	0/1:104,44:148:99:875,0,2532	16	0	3	0
chr15	22768275	22768275	C	0	exonic	GOLGA6L7	.	.	.	.	1270	216	4	27	5	63	0.118367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3846	688.52	2	chr15	22768275	.	C	*	688.52	.	AC=10;AF=0.385;AN=26;DP=84;ExcessHet=0.002;FS=0;InbreedingCoeff=0.5212;MLEAC=12;MLEAF=0.462;MQ=56.28;QD=15.65;SOR=0.527	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,4:4:13:1|1:22768260_GCATCTGCTCCTCCTCCTCCCCCATCTGCTCCTCCTGATTCCT_G:162,13,0:22768260	7	4	2	6
chr15	22768302	22768302	T	0	exonic	GOLGA6L7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	75.48	2	chr15	22768302	.	T	*	75.48	.	AC=10;AF=0.357;AN=28;DP=68;ExcessHet=0.0004;FS=0;InbreedingCoeff=0.4151;MLEAC=13;MLEAF=0.464;MQ=52.45;MQRankSum=-0.842;QD=3.77;ReadPosRankSum=-0.524;SOR=0.551	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,4:4:13:1|1:22768260_GCATCTGCTCCTCCTCCTCCCCCATCTGCTCCTCCTGATTCCT_G:192,15,0:22768260	8	4	2	5
chr15	23440492	23440492	C	0	exonic	GOLGA6L2	.	.	.	.	628	57	798	30	9	867	0.882716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	44113.5	193	chr15	23440492	.	C	*	44113.5	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.78;DP=2930;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=19;MLEAF=0.5;MQ=58;MQRankSum=-0.314;QD=15.57;ReadPosRankSum=-0.294;SOR=0.315	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:1,76:147:99:.:.:5319,2358,2818:.	0	0	19	0
chr15	23440587	23440587	C	T	exonic	GOLGA6L2	.	nonsynonymous SNV	GOLGA6L2:NM_001304388:exon8:c.G1888A:p.G630R	.	377	1139	6	0	0	6	0.00262697	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00273111869499	.	0.00139776	0.0051	0.0020	0.0036	0	0	0.0009	0	0.0097	0.0006145	95	154602	rs372129004	0.0007	0.0007	0.0005	0.0009	0.0076	0.0007	0.0006	0.0071	0.0069	0.0001	0.0014	0.0006	2.95e-05	0	0.0023	0.0002	0.0007	0.0076	0.0003	0.0004	0.0002	0.0004	0.0046	0.0003	0.0002	0.0031	0.0026	0	0	0.0004	0.0012	0	0	0	0.0002	0	0.0046	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.81	0.10975	T	1.69	0.00584	N	0.131	0.12627	.	.	.	.	.	.	.	0.0051416755	0.00112	T	0.002731	0.05637	T	.	.	.	.	0.188950314367	0.18478	0.013426868770001222	0.01300	0.0140065937379	0.01334	.	.	.	.	.	.	-0.375741	0.03313	T	-0.777502	0.02529	T	.	.	.	0.568443	0.20183	T	0.0704227	0.15511	0.19674455	0.43420	0.0704227	0.15511	0.19674455	0.43419	-5.287	0.39814	T	.	.	0.194	0.41526	B	.	.	1.518879	0.19502	14.30	0.83715655333144168	0.14879	0.00610	0.02709	N	AEFDBI	0.036510	0.04877	N	.	.	.	.	.	.	1.33875082419496E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	.	.	.	-2.430000	0.01101	-1.440000	0.05434	0.292000	0.18798	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	.	.	.	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	.	.	.	.	.	.	.	.	0.05263	985.83	218	chr15	23440587	.	C	T	985.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.878;DP=3019;ExcessHet=0.119;FS=0.507;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=59.57;MQRankSum=1.51;QD=2.65;ReadPosRankSum=0.663;SOR=0.764	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:162,35:197:99:.:.:582,0,6127:.	17	0	2	0
chr15	30145531	30145531	C	G	exonic	GOLGA8T	.	nonsynonymous SNV	GOLGA8T:NM_001355469:exon19:c.C1860G:p.F620L	.	490	1021	10	1	0	12	0.00584226	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00393936544046	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs200445157	0.0016	0.0033	0.0014	0.0018	0.0059	0.0016	0.0015	0.0054	0.0052	0.0008	0.0011	0.0029	0.0001	0.0003	0.0059	0.0014	0.0016	0.0059	0.0024	0.0032	0.0024	0.0023	0.0066	0.0022	0.0021	0.0046	0.0040	0.0013	0	0.0021	0.0034	0.0002	0.0005	0.0109	0.0029	0.0050	0.0066	0.141	0.25560	T	0.055	0.46862	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.29	0.35775	T	-3.2	0.64710	D	0.445	0.48319	.	.	.	.	.	.	.	0.034193397	0.01619	T	0.003939	0.09305	T	.	.	.	.	0.308613300994	0.30479	0.4224300488599057	0.42160	2.02551538596	0.94040	.	.	.	.	.	.	-0.288926	0.09744	T	-0.652799	0.08759	T	.	.	.	.	.	.	0.09299209	0.21829	0.105632715	0.25396	0.09299209	0.21829	0.105632715	0.25396	-4.254	0.27527	T	.	.	0.563	0.67335	A	.	.	1.329378	0.17347	13.11	0.8156657667198649	0.13749	0.43590	0.27132	N	AEFI	0.039710	0.05805	N	.	.	.	.	.	.	1.13440779514145E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	1.48	0.461	0.15901	0.863000	0.27567	-0.477000	0.08942	0.193000	0.17869	1.000000	0.71638	0.036000	0.21445	0.003000	0.05239	0.0:0.6954:0.0:0.3046	3.366	0.06786	826	0.39940	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	31.72	39	chr15	30145531	.	C	G	31.72	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-1.655;DP=614;ExcessHet=0;FS=5.416;InbreedingCoeff=-0.0286;MLEAC=1;MLEAF=0.028;MQ=33.39;MQRankSum=-0.622;QD=1.06;ReadPosRankSum=-2.9;SOR=2.165	GT:AD:DP:GQ:PL	0/1:26,4:30:45:45,0,833	17	0	1	1
chr15	41027637	41027637	G	A	exonic	INO80	.	nonsynonymous SNV	INO80:NM_017553:exon25:c.C3007T:p.L1003F	.	431	1089	1	1	0	3	0.00137552	.	.	.	2397787	not_specified|INO80-related_disorder	MedGen:CN169374|.	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.257	0.0219340107207	7.7e-05	.	6.601e-05	9.626e-05	0	0	0	0.0001	0	0	5.82e-05	9	154602	rs201049180	8.211e-05	8.277e-05	7.489e-05	8.94e-05	0.0003	7.003e-05	6.554e-05	8.214e-05	7.634e-05	0	0	0	0	0	0.0003	9.714e-05	0.0001	3.48e-05	8.534e-05	8.53e-05	0.0001	6.713e-05	0.0002	4.953e-05	3.959e-05	9.048e-05	7.012e-05	0	0	6.537e-05	0	0	0	0	0.0002	0.0005	0	0.471	0.08458	T	0.722	0.05309	T	0.0	0.02946	B	0.001	0.04355	B	0.000338	0.45700	D	0.195712	0.918439	0.36606	D	0	0.06538	N	-2.79	0.91019	D	-1.58	0.38151	N	0.242	0.27316	-0.4656	0.69878	T	0.393	0.74656	T	10	0.07856551	0.12538	T	0.021934	0.44774	T	0.257	0.56827	.	.	0.240615537116	0.23683	0.5056611620995903	0.50488	0.372401614746	0.38736	0.525950431824	0.42464	T	0.072433	0.34452	T	-0.221093	0.17844	T	-0.300316	0.44692	T	0.0913669392466545	0.11379	T	0.828517	0.49290	T	0.17698853	0.38641	0.105514385	0.25365	0.17698853	0.38641	0.105514385	0.25364	-4.767	0.34204	T	.	.	0.100	0.17103	B	.;.;.	.;.;.	2.883383	0.38162	20.7	0.99223693681206382	0.55994	0.80670	0.40248	D	AEFBI	0.107845	0.21473	N	-0.199004542045888	0.33175	1.879243	0.025379188824139	0.40896	2.448116	0.998068596410946	0.36380	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.7	3.72	0.41857	1.590000	0.36264	7.389000	0.58501	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0872:0.2101:0.4564:0.2462	3.060	0.05821	181	0.92953	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	464.33	33	chr15	41027637	.	G	A	464.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.07;DP=704;ExcessHet=0;FS=2.03;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.45;ReadPosRankSum=2.63;SOR=0.481	GT:AD:DP:GQ:PL	0/1:48,24:72:99:478,0,1256	18	0	1	0
chr15	41522211	41522211	A	G	exonic	RPAP1	.	nonsynonymous SNV	RPAP1:NM_015540:exon20:c.T2782C:p.F928L	.	420	1098	4	0	0	4	0.00181818	.	.	.	3319982	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.073	0.00569075243506	0.0013	0.000199681	0.0013	0.0002	0.0003	0	0.0006	0.0020	0.0023	0.0008	0.0011966	185	154602	rs147913656	0.0010	0.0010	0.0010	0.0011	0.0074	0.0010	0.0010	0.0056	0.0050	8.961e-05	0.0006	0.0010	0	0.0008	0.0074	0.0011	0.0012	0.0009	0.0008	0.0008	0.0008	0.0008	0.0017	0.0007	0.0006	0.0010	0.0009	0.0002	0.0011	0.0003	0.0012	0	0.0008	0.0034	0.0012	0.0009	0.0017	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.002	0.06944	B	0.012815	0.29047	N	0.359399	0.699816	0.30114	N	1.2	0.30300	L	3.19	0.07353	T	1.55	0.00925	N	0.149	0.15187	-1.0732	0.08724	T	0.011	0.04321	T	10	0.010886043	0.00240	T	0.005691	0.14742	T	0.073	0.21317	0.248	0.18447	0.183819452728	0.17975	0.31915644812301214	0.31828	0.235359856156	0.26065	0.456057429314	0.32771	T	0.007061	0.06479	T	-0.593964	0.00159	T	-0.631822	0.10278	T	0.00860955002042055	0.00105	T	0.632737	0.24712	T	0.044538226	0.07136	0.045136753	0.06006	0.044538226	0.07136	0.045136753	0.06006	-0.341	0.00495	T	.	.	0.543	0.66480	A	.;.	.;.	1.578771	0.20203	14.64	0.56868182043444071	0.05645	0.60473	0.31205	D	AEFBI	0.130423	0.24897	N	-0.322763495034588	0.28286	1.558878	-0.142072163500154	0.33714	1.931463	0.0321607156869386	0.14040	0.732398	0.92422	0	0.743671	0.97443	0	0.606735	0.37207	0	0.635551	0.53088	0	.	.	5.0	3.88	0.43959	2.804000	0.47628	3.488000	0.38695	0.740000	0.86194	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.7799:0.0:0.2201:0.0	7.169	0.24883	197	0.92378	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004032	0.000000	0.004076	0.011696	0.050000	0.008621	0.003067	0.000000	0.02632	1020.33	33	chr15	41522211	.	A	G	1020.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.151;DP=772;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.58;ReadPosRankSum=-1.221;SOR=0.582	GT:AD:DP:GQ:PL	0/1:32,38:70:99:1034,0,901	18	0	1	0
chr15	41851065	41851065	G	A	exonic	SPTBN5	.	nonsynonymous SNV	SPTBN5:NM_016642:exon65:c.C10829T:p.S3610F	.	404	1117	0	1	0	2	0.000894454	.	.	.	3334114	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.073	0.00458886585679	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1436289927	8.22e-06	8.893e-06	5.452e-06	1.102e-05	0.0002	4.38e-06	3.46e-06	3.81e-06	2.76e-06	0	0	0	0	0	0.0002	8.097e-06	3.317e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.611	0.05452	T	0.0	0.92824	D	0.005	0.12996	B	0.003	0.08700	B	0.803355	0.09306	N	0.889918	1	0.08975	N	1.995	0.54099	M	1.56	0.29602	T	-2.33	0.51646	N	0.485	0.51940	-0.9893	0.32778	T	0.054	0.22808	T	10	0.23159716	0.40137	T	0.004589	0.11346	T	0.073	0.21317	0.525	0.62967	0.265929055128	0.26215	0.14823396260442542	0.14745	.	.	0.319104999304	0.13285	T	0.054574	0.29763	T	-0.209161	0.19498	T	-0.538222	0.18472	T	0.215476661920547	0.21236	T	0.606739	0.22845	T	0.06910235	0.15112	0.07745201	0.17255	0.06910235	0.15112	0.07745201	0.17255	-7.089	0.54681	T	.	.	0.166	0.36574	B	.	.	1.599845	0.20451	14.76	0.97548694238601374	0.34555	0.06941	0.12967	N	AEFDGBCI	0.050129	0.08731	N	-0.929841874079959	0.10149	0.4836246	-0.992724629650866	0.09947	0.4979823	0.999630517592174	0.41205	0.67177	0.52595	0	0.550933	0.16991	0	0.536957	0.11973	0	0.711	0.71501	0	.	.	4.06	0.767	0.17627	0.366000	0.20099	0.668000	0.20568	0.675000	0.71128	0.163000	0.23839	0.990000	0.31317	0.081000	0.17303	0.1109:0.3483:0.363:0.1778	2.484	0.04314	234	0.90879	Pleckstrin homology domain|Pleckstrin homology domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2553.33	96	chr15	41851065	.	G	A	2553.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.33;DP=2008;ExcessHet=0;FS=1.274;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.96;ReadPosRankSum=0.359;SOR=0.721	GT:AD:DP:GQ:PL	0/1:62,98:160:99:2567,0,1582	18	0	1	0
chr15	41854789	41854789	C	T	exonic	SPTBN5	.	nonsynonymous SNV	SPTBN5:NM_016642:exon56:c.G9611A:p.R3204H	.	.	.	.	.	.	.	.	.	.	.	2287252	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.281	0.234630749848	0.0002	.	0.0003	0	0	0.0015	0	0.0002	0	0.0003	0.0002135	33	154602	rs376322805	0.0001	0.0002	0.0001	0.0001	0.0004	0.0001	0.0001	0.0002	0.0002	6.511e-05	0.0001	0	0.0004	0	0	0.0001	0.0002	0.0001	0.0002	0.0002	0.0002	0.0002	0.0014	0.0002	0.0001	0.0006	0.0005	4.82e-05	0	0.0003	0	0.0014	0	0	0.0003	0	0.0002	0.04	0.42199	D	0.003	0.76473	D	0.804	0.45171	P	0.244	0.38795	B	0.001094	0.40303	N	0.154476	0.98604	0.24654	N	3.335	0.90898	M	0.11	0.61208	T	-4.41	0.77391	D	0.517	0.54757	-0.6034	0.64677	T	0.255	0.62541	T	10	0.17360422	0.32196	T	0.234631	0.88419	D	0.281	0.59861	.	.	0.811282070921	0.80951	0.39734938709119205	0.39649	.	.	0.282105743885	0.07788	T	0.201161	0.55895	T	-0.299348	0.08722	T	-0.243302	0.50474	T	0.204036931509994	0.20637	T	0.59724	0.22223	T	0.21400538	0.43794	0.17027721	0.39125	0.21400538	0.43794	0.17027721	0.39124	-6.509	0.50356	T	.	.	0.166	0.36554	B	.	.	1.969130	0.25016	16.61	0.96161493028170575	0.28899	0.73883	0.36138	D	AEFDGBHCI	0.103100	0.20666	N	-0.10651602340975	0.37108	2.154263	-0.194274408499382	0.31747	1.799528	0.999999832817278	0.74766	0.706548	0.73137	0	0.547309	0.14657	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	5.27	4.36	0.51643	1.592000	0.36286	-1.100000	0.06331	-0.176000	0.10722	0.399000	0.26162	0.000000	0.08366	0.034000	0.13613	0.0:0.8658:0.1342:0.0	16.092	0.80907	216	0.91608	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001523	0.005102	0.000000	0.003012	0.000000	0.000000	0.000000	0.000000	0.02632	521.33	34	chr15	41854789	.	C	T	521.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.588;DP=650;ExcessHet=0;FS=2.857;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.22;ReadPosRankSum=1.15;SOR=1.302	GT:AD:DP:GQ:PL	0/1:30,21:51:99:535,0,813	18	0	1	0
chr15	43021291	43021291	A	G	exonic	UBR1	.	nonsynonymous SNV	UBR1:NM_174916:exon27:c.T2924C:p.I975T	Johanson-Blizzard syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.352	0.0568671016026	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1287101894	1.386e-06	1.508e-05	0	2.783e-06	2.329e-05	2.3e-07	9e-08	3.87e-06	1.45e-06	0	0	0	0	0	0	0	0	2.329e-05	6.571e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.002	0.72154	D	0.003	0.76473	D	0.877	0.48223	P	0.335	0.42239	B	0.000088	0.51296	D	0.168957	0.999825	0.81001	D	1.87	0.49600	L	0.39	0.57419	T	-3.24	0.65171	D	0.897	0.90251	-0.5780	0.65696	T	0.227	0.59208	T	10	0.901292	0.89490	D	0.056867	0.66759	D	0.352	0.67326	0.75	0.88071	0.700849342337	0.69825	0.45486979996443216	0.45404	0.331662542844	0.35236	0.694372951984	0.66333	T	0.758848	0.93451	D	0.0949073	0.63738	D	-0.00459463	0.70038	D	0.908208012580872	0.56272	D	0.962104	0.85685	D	0.3664358	0.58321	0.44078487	0.67385	0.3664358	0.58321	0.44078487	0.67385	-7.526	0.57793	D	0.803226725685942	0.87956	0.531	0.66670	A	.;.	.;.	3.868307	0.56145	23.7	0.99495853286271851	0.67744	0.99753	0.99211	D	AEFBI	0.836665	0.75439	D	0.56937207432988	0.71269	5.625336	0.579739048421578	0.73488	5.978799	0.999853971234939	0.44174	0.706548	0.73137	0	0.653731	0.59785	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	4.83	4.83	0.61880	8.293000	0.89858	11.232000	0.90136	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	14.856	0.69969	15	0.98792	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1316	247.85	118	chr15	43021291	.	A	G	247.85	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-3.978;DP=1871;ExcessHet=1.3;FS=121.683;InbreedingCoeff=-0.1377;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=0.4;ReadPosRankSum=0.139;SOR=11.592	GT:AD:DP:GQ:PL	0/1:92,28:120:55:55,0,1634	14	0	5	0
chr15	44564566	44564566	A	G	exonic	SPG11	.	nonsynonymous SNV	SPG11:NM_001160227:exon37:c.T6793C:p.F2265L,SPG11:NM_025137:exon39:c.T7132C:p.F2378L	Amyotrophic lateral sclerosis 5, juvenile, Autosomal recessive;Charcot-Marie-Tooth disease, axonal, type 2X, Autosomal recessive;Spastic paraplegia 11, autosomal recessive, Autosomal recessive	17	1503	2	0	0	2	0.000664894	.	.	.	213128	Hereditary_spastic_paraplegia_11|not_specified|not_provided|Inborn_genetic_diseases|Charcot-Marie-Tooth_disease_axonal_type_2X|Amyotrophic_lateral_sclerosis_type_5|Hereditary_spastic_paraplegia|Intellectual_disability	MONDO:MONDO:0011445,MedGen:C1858479,OMIM:604360,Orphanet:2822|MedGen:CN169374|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014726,MedGen:C5569024,OMIM:616668,Orphanet:466775|MONDO:MONDO:0011196,MedGen:C1865864,OMIM:602099,Orphanet:300605|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.340	0.0822279793157	0.0003	.	0.0002	0	0.0003	0	0	0.0002	0.0011	0	0.0001358	21	154602	rs150571352	0.0001	0.0001	0.0001	0.0001	0.0066	0.0001	0.0001	0.0050	0.0044	0.0001	0.0004	0	0	0	0.0066	0.0001	0.0002	0.0001	0.0001	0.0001	8.991e-05	0.0001	0.0002	7.09e-05	5.746e-05	7.907e-05	5.993e-05	2.412e-05	0	0.0002	0	0	0	0.0063	0.0001	0.0005	0	0.008	0.58626	D	0.026	0.56640	D	0.998	0.73220	D	0.95	0.68788	D	0.000105	0.50451	D	0.207957	0.99998	0.81001	D	2.215	0.62545	M	-1.0	0.76037	T	-1.02	0.28906	N	0.809	0.81261	-0.1462	0.79010	T	0.506	0.81392	D	10	0.6457062	0.69313	D	0.082228	0.73856	D	0.340	0.66202	0.302	0.27003	0.763591142311	0.76143	0.49356896821873847	0.49277	0.179086514007	0.20148	0.564594507217	0.47915	T	0.066045	0.32845	T	-0.140468	0.29816	T	-0.111588	0.62484	T	0.099732825805945	0.12328	T	0.865513	0.62748	D	0.15253887	0.34622	0.18333335	0.41316	0.1657892	0.36873	0.15869977	0.37047	-4.181	0.26476	T	0.4873593452049235	0.56488	0.872	0.80964	P	.;.	.;.	4.357689	0.66984	25.0	0.99850363376235829	0.93013	0.95509	0.65004	D	AEFBCI	0.566703	0.57258	D	0.488116175224291	0.66393	4.944529	0.497758181772501	0.67840	5.138368	0.991374681155731	0.32467	0.67177	0.52595	0	0.702456	0.74545	0	0.575934	0.27490	0	0.711	0.71501	0	.	.	6.17	5.04	0.67293	4.810000	0.62289	9.357000	0.80345	0.747000	0.86732	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.7291:0.0:0.0:0.2709	9.941	0.40750	170	0.93412	Spatacsin, C-terminal domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.004049	0.000000	0.006793	0.008772	0.000000	0.000000	0.000000	0.000000	0.02632	1168.33	33	chr15	44564566	.	A	G	1168.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.343;DP=718;ExcessHet=0;FS=3.957;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=-0.328;SOR=0.392	GT:AD:DP:GQ:PL	0/1:42,48:90:99:1182,0,1008	18	0	1	0
chr15	45061087	45061087	C	T	exonic	SORD	.	nonsynonymous SNV	SORD:NM_003104:exon4:c.C286T:p.P96S	.	431	1061	30	0	0	30	0.0139405	.	.	.	3539455	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.517	0.0733825270408	.	.	7.417e-05	0.0006	0	0	0	4.497e-05	0	0	3.84e-05	1	26028	rs367815523	0.0005	0.0049	0.0005	0.0005	0.0020	0.0004	0.0004	0.0011	0.0009	0.0010	0.0009	0.0002	0.0007	0.0002	0.0020	0.0004	0.0005	0.0006	0.0008	0.0047	0.0008	0.0007	0.0016	0.0006	0.0006	0.0012	0.0011	0.0016	0.0011	0.0003	0.0003	0.0010	0	0	0.0006	0.0005	0.0004	0.0	0.91255	D	0.009	0.67890	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.68	0.78455	M	3.44	0.05375	T	-7.84	0.96032	D	0.904	0.90476	-1.1546	0.00894	T	0.046	0.19800	T	10	0.69918245	0.72335	D	0.073383	0.71774	D	0.517	0.79400	.	.	0.485420873983	0.48173	0.9197059316775463	0.91946	0.907490128697	0.70902	0.666648447514	0.62360	T	0.265353	0.63721	T	0.113796	0.65744	D	-0.074317	0.65318	T	0.47631374001503	0.31762	T	0.982402	0.99990	D	0.94719636	0.95980	0.8657455	0.92572	0.94719636	0.95980	0.8657455	0.92573	-11.109	0.80252	D	.	.	0.940	0.85879	P	.;.	.;.	4.803971	0.78081	26.8	0.99918417027830564	0.98586	0.99309	0.94295	D	AEFGBI	0.944456	0.95155	D	0.571844831821852	0.71421	5.64843	0.512897990840352	0.68855	5.278264	0.99999999999784	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.23	4.23	0.49319	7.830000	0.84907	7.661000	0.64234	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.303000	0.24570	0.0:1.0:0.0:0.0	15.778	0.78011	409	0.82198	Alcohol dehydrogenase, N-terminal|Polyketide synthase, enoylreductase domain;Alcohol dehydrogenase, N-terminal|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	0.006042	0.015152	0.000000	0.017544	0.000000	0.008621	0.000000	0.000000	0.05263	641.83	45	chr15	45061087	.	C	T	641.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.61;DP=1049;ExcessHet=0.119;FS=10.978;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=59.24;MQRankSum=-7.437;QD=1.88;ReadPosRankSum=-0.786;SOR=1.513	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:134,15:149:99:0|1:45061086_G_A:206,0,5561:45061086	17	0	2	0
chr15	55916278	55916278	A	T	exonic	NEDD4	.	nonsynonymous SNV	NEDD4:NM_001284338:exon1:c.T554A:p.V185D,NEDD4:NM_001284339:exon1:c.T554A:p.V185D,NEDD4:NM_001284340:exon1:c.T554A:p.V185D,NEDD4:NM_198400:exon1:c.T554A:p.V185D	.	436	1084	1	1	0	3	0.00138185	.	.	.	703262	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.045	.	0.0042	0.00279553	0.0010	0.0101	0.0003	0	0	0.0002	0	6.061e-05	0.0009896	153	154602	rs143372577	0.0005	0.0005	0.0005	0.0004	0.0137	0.0004	0.0004	0.0127	0.0123	0.0137	0.0006	0	0	0	0.0078	6.026e-05	0.0013	6.957e-05	0.0030	0.0030	0.0032	0.0028	0.0103	0.0028	0.0027	0.0095	0.0092	0.0103	0	0.0008	0	0	0	0.0068	0.0001	0.0024	0	0.001	0.78490	D	0.01	0.79402	D	0.207	0.29891	B	0.074	0.28220	B	.	.	.	.	0.996269	0.26046	N	1.845	0.48678	L	1.02	0.40749	T	-0.75	0.21003	N	0.243	0.27435	-1.0365	0.18388	T	0.048	0.20434	T	9	0.0031014085	0.00051	T	.	.	.	0.045	0.12272	.	.	0.801936882606	0.80008	0.4542003348950329	0.45338	0.0716000472855	0.08021	0.264917135239	0.05491	T	0.196525	0.55293	T	-0.482484	0.00715	T	-0.456436	0.26988	T	0.0175332241772673	0.00488	T	0.792121	0.43364	T	0.26600528	0.49670	0.18273753	0.41220	0.26600528	0.49670	0.18273753	0.41219	-3.847	0.21508	T	.	.	0.165	0.46226	B	.;.;.	.;.;.	0.993539	0.13714	10.26	0.94468108739227474	0.24913	0.11260	0.16515	N	AEFDGBCI	0.088391	0.17920	N	-0.670898457225508	0.16854	0.8623503	-0.651413268072117	0.18181	0.9701054	0.999955426359537	0.48110	0.500041	0.20204	0	0.624306	0.53593	0	0.573888	0.23631	0	0.727631	0.95156	0	.	.	4.63	2.18	0.26813	1.293000	0.32959	0.735000	0.21116	0.691000	0.84096	0.001000	0.13787	0.000000	0.08366	0.979000	0.57723	0.7183:0.1441:0.0:0.1377	7.746	0.28036	715	0.56137	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007553	0.005051	0.012228	0.011696	0.050000	0.008621	0.000000	0.000000	0.02632	2688.33	33	chr15	55916278	.	A	T	2688.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.117;DP=1422;ExcessHet=0;FS=0.513;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.39;ReadPosRankSum=-0.828;SOR=0.748	GT:AD:DP:GQ:PL	0/1:116,101:217:99:2702,0,3299	18	0	1	0
chr15	61920099	61920099	C	T	exonic	VPS13C	.	nonsynonymous SNV	VPS13C:NM_017684:exon55:c.G7316A:p.R2439H,VPS13C:NM_018080:exon55:c.G7316A:p.R2439H,VPS13C:NM_001018088:exon57:c.G7445A:p.R2482H,VPS13C:NM_020821:exon57:c.G7445A:p.R2482H	Parkinson disease 23, autosomal recessive, early onset, Autosomal recessive	436	1014	71	1	0	73	0.0347454	.	.	.	1260739	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.124	.	0.0050	0.0127796	0.0133	0.0014	0.0046	0.0008	0.0059	0.0091	0.0277	0.0528	0.0121797	1883	154602	rs115481870	0.0095	0.0095	0.0080	0.0110	0.0500	0.0093	0.0093	0.0487	0.0482	0.0020	0.0044	0.0094	0.0004	0.0069	0.0216	0.0071	0.0112	0.0500	0.0065	0.0065	0.0057	0.0075	0.0450	0.0062	0.0061	0.0401	0.0382	0.0017	0.0022	0.0041	0.0086	0.0012	0.0066	0.0102	0.0076	0.0081	0.0450	0.056	0.53172	T	.	.	.	0.98	0.62325	D	0.508	0.56482	P	0.000001	0.62929	D	0.057843	1	0.81001	D	2.82	0.82106	M	0.87	0.46412	T	-2.41	0.52938	N	0.209	0.46649	-0.6703	0.61815	T	0.180	0.52690	T	10	0.004328251	0.00087	T	.	.	.	0.124	0.34239	.	.	.	.	0.4672191266007829	0.46640	0.0288716110594	0.02972	0.397253215313	0.24687	T	0.030815	0.21752	T	-0.384361	0.02924	T	-0.28764	0.46018	T	0.038208985751091	0.03370	T	0.984801	0.94749	D	0.16818276	0.37260	0.14348288	0.34099	0.16495617	0.36736	0.14348288	0.34098	-3.33	0.14963	T	0.6857515238246452	0.76277	0.075	0.05711	B	.;.;.;.;.;.	.;.;.;.;.;.	4.384751	0.67615	25.1	0.99915516095398893	0.98379	0.98276	0.81177	D	AEFBI	0.627211	0.60975	D	0.643695989814926	0.75961	6.399439	0.639632664212464	0.77841	6.757618	0.999999997944018	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.56	5.56	0.83678	5.820000	0.68932	3.257000	0.37065	0.599000	0.40250	1.000000	0.71638	0.998000	0.33993	0.989000	0.64315	0.0:1.0:0.0:0.0	19.522	0.95183	914	0.21048	.;.;.;.;.;.	.	.	.	.	.	Likely benign	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	0.020141	0.000000	0.021739	0.014620	0.000000	0.008621	0.030488	0.022727	0.05263	1525.81	35	chr15	61920099	.	C	T	1525.81	.	AC=2;AF=0.053;AN=38;DP=663;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.52;SOR=1.051	GT:AD:DP:GQ:PL	1/1:0,50:50:99:1553,150,0	18	1	0	0
chr15	65411308	65411308	C	T	exonic	IGDCC4	.	nonsynonymous SNV	IGDCC4:NM_020962:exon2:c.G133A:p.V45M	.	421	1076	24	1	0	26	0.0119376	.	.	.	2814245	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.252	0.155798109168	0.0008	0.000599042	0.0014	9.905e-05	0.0005	0	0	0.0011	0	0.0065	0.0012419	192	154602	rs142198652	0.0010	0.0010	0.0008	0.0012	0.0124	0.0009	0.0009	0.0100	0.0091	0.0001	0.0004	0.0005	0	1.879e-05	0.0124	0.0006	0.0015	0.0062	0.0009	0.0009	0.0008	0.0010	0.0064	0.0008	0.0007	0.0046	0.0040	9.62e-05	0	0.0011	0.0009	0	0	0.0068	0.0011	0.0014	0.0064	0.017	0.51248	D	0.005	0.72224	D	0.999	0.77913	D	0.99	0.78936	D	0.003418	0.34985	N	0.235166	0.995467	0.42703	D	2.46	0.71463	M	0.01	0.62459	T	-1.95	0.45222	N	0.47	0.50598	-0.2355	0.76743	T	0.394	0.74749	T	10	0.0098590255	0.00221	T	0.155798	0.83668	D	0.252	0.56159	.	.	0.597567007519	0.59436	0.7470042285063002	0.74646	0.372920381857	0.38773	0.585131764412	0.50808	T	0.025447	0.19026	T	-0.352648	0.04563	T	-0.27658	0.47154	T	0.0698721953055544	0.08633	T	0.691131	0.30052	T	0.06723215	0.14539	0.12474114	0.30063	0.06723215	0.14538	0.12474114	0.30062	-6.734	0.52066	T	.	.	0.347	0.56409	A	.	.	3.679453	0.52360	23.2	0.9982442129627378	0.90677	0.88747	0.48823	D	AEFBCI	0.674587	0.64026	D	0.285218540029296	0.55399	3.703959	0.183815149241119	0.48962	3.105141	0.999999970988296	0.74766	0.50712	0.20391	0	0.480063	0.06835	0	0.658105	0.52812	0	0.530356	0.10902	0	.	.	5.19	4.27	0.50009	5.221000	0.65104	4.723000	0.44515	-0.808000	0.03092	1.000000	0.71638	1.000000	0.68203	0.002000	0.04165	0.0:0.9188:0.0:0.0812	11.953	0.52253	456	0.79013	Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004028	0.000000	0.002717	0.000000	0.000000	0.008621	0.012195	0.000000	0.05263	1907.81	35	chr15	65411308	.	C	T	1907.81	.	AC=2;AF=0.053;AN=38;DP=699;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=32.89;SOR=1.733	GT:AD:DP:GQ:PL	1/1:0,58:58:99:1935,174,0	18	1	0	0
chr15	67828064	67828064	G	A	exonic	SKOR1	.	nonsynonymous SNV	SKOR1:NM_001365915:exon2:c.G2236A:p.E746K	.	422	1097	3	0	0	3	0.0013655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.110	0.19355630201	.	0.000998403	0.0027	0	0	0	0	0.0004	0	0.0037	0.0004075	63	154602	rs566896623	0.0004	0.0004	0.0003	0.0005	0.0033	0.0004	0.0004	0.0029	0.0028	0	2.877e-05	0.0030	0.0018	0.0025	0.0010	2.976e-05	0.0010	0.0033	0.0004	0.0004	0.0003	0.0006	0.0029	0.0004	0.0003	0.0018	0.0014	2.406e-05	0	6.537e-05	0.0032	0.0029	0.0023	0	7.351e-05	0.0005	0.0021	0.003	0.68238	D	0.151	0.32355	T	.	.	.	.	.	.	0.932884	0.07547	N	1.031550	0.968166	0.25814	N	0.695	0.17993	N	2.5	0.72348	T	-1.95	0.45222	N	0.177	0.34336	-0.9060	0.47332	T	0.238	0.60547	T	10	0.0059768558	0.00134	T	0.193556	0.86310	D	0.110	0.31079	0.122	0.02867	0.388495093706	0.38465	0.25510035737762377	0.25424	.	.	0.895249783993	0.95896	D	0.011725	0.10420	T	-0.346847	0.04928	T	-0.270045	0.47814	T	0.0452287137011595	0.04645	T	0.849515	0.56692	T	0.29899663	0.52815	0.27582932	0.53523	0.29899663	0.52815	0.27582932	0.53522	-3.505	0.31486	T	.	.	0.269	0.50352	B	.;.;.;.	.;.;.;.	3.665544	0.52099	23.2	0.99879289833014984	0.95572	0.94085	0.60067	D	AEFDBCI	0.396733	0.47309	N	-0.0581981279892783	0.39236	2.310615	0.110242477490034	0.45071	2.776929	0.99999878982143	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.616487	0.41570	0	0.63947	0.58350	0	.	.	4.73	4.73	0.59485	1.513000	0.35430	9.710000	0.81330	0.676000	0.76740	0.132000	0.23378	1.000000	0.68203	0.938000	0.47775	0.0:0.0:1.0:0.0	14.585	0.67909	343	0.85802	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002339	0.000000	0.000000	0.000000	0.000000	0.000000	0.006993	0.009009	0.02632	759.33	39	chr15	67828064	.	G	A	759.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.02;DP=752;ExcessHet=0;FS=2.128;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.51;ReadPosRankSum=0.233;SOR=1.09	GT:AD:DP:GQ:PL	0/1:37,29:66:99:773,0,930	18	0	1	0
chr15	77054193	77054193	A	C	exonic	TSPAN3	.	nonsynonymous SNV	TSPAN3:NM_001168412:exon3:c.T225G:p.D75E,TSPAN3:NM_198902:exon3:c.T342G:p.D114E,TSPAN3:NM_005724:exon4:c.T417G:p.D139E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.817	0.295796886391	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1444556058	1.368e-06	1.368e-06	0	2.75e-06	1.159e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	0	1.656e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.91255	D	0.012	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	3.15	0.88382	M	-1.55	0.81727	D	-3.93	0.73267	D	0.964	0.98167	0.492	0.90430	D	0.716	0.90239	D	10	0.96966195	0.96530	D	0.295797	0.90718	D	0.817	0.94123	0.847	0.95025	0.714122781363	0.71161	0.9121320830592783	0.91187	1.6529612223	0.89572	0.802290201187	0.82313	T	0.595334	0.86952	D	0.321689	0.84590	D	0.321161	0.89141	D	0.978883445262909	0.72549	D	0.955304	0.82980	D	0.9173207	0.92988	0.83160406	0.90289	0.9173207	0.92989	0.83160406	0.90289	-9.639	0.75289	D	.	.	0.988	0.93824	P	.;.;.;.	.;.;.;.	3.131884	0.42320	21.5	0.994247693926815	0.63935	0.88778	0.48871	D	AEFBI	0.370674	0.45696	N	0.237147611177746	0.53007	3.471636	0.060482356991123	0.42582	2.578017	0.9990157724244	0.38212	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.735409	0.98432	0	.	.	6.07	-4.54	0.03207	0.271000	0.18390	0.241000	0.16308	0.756000	0.94297	0.985000	0.35982	0.477000	0.25082	1.000000	0.97212	0.4121:0.0:0.5879:0.0	16.659	0.85094	297	0.88113	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1025.33	33	chr15	77054193	.	A	C	1025.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.391;DP=706;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.44;ReadPosRankSum=-0.113;SOR=0.66	GT:AD:DP:GQ:PL	0/1:27,44:71:99:1039,0,675	18	0	1	0
chr15	77470925	77470925	G	C	exonic	HMG20A	.	nonsynonymous SNV	HMG20A:NM_001304504:exon5:c.G466C:p.A156P,HMG20A:NM_001304505:exon5:c.G127C:p.A43P,HMG20A:NM_018200:exon6:c.G466C:p.A156P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.926	0.36457501465	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0017	0.0063	0.0018	0.0016	0.0020	0.0016	0.0016	0.0019	0.0019	0.0015	7.544e-05	0.0004	0.0003	1.886e-05	0.0013	0.0020	0.0012	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.49	0.98946	H	-3.87	0.95922	D	-4.76	0.80340	D	0.951	0.95956	1.083	0.98998	D	0.959	0.98660	D	10	0.8971046	0.90150	D	0.364575	0.92596	D	0.926	0.98192	0.642	0.77903	0.968703745723	0.96836	0.8872671032323289	0.88695	1.50727079688	0.87154	0.880620002747	0.94044	D	0.900783	0.98052	D	0.576488	0.96944	D	0.590309	0.96894	D	0.999476850032806	0.97549	D	0.962604	0.86052	D	0.9461271	0.95872	0.9591841	0.98928	0.9461271	0.95872	0.9591841	0.98928	-15.627	0.97148	D	.	.	1.000	0.99585	P	.;.;.;.	.;.;.;.	6.308495	0.94988	34	0.99786623120083784	0.87308	0.99689	0.98687	D	AEFGBI	0.951203	0.96554	D	1.13537706431312	0.98738	19.20727	1.06046795470621	0.99493	23.16804	0.9999999999968	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	5.88	0.94564	9.602000	0.97623	11.852000	0.98107	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	20.219	0.98314	0	0.99858	High mobility group box domain|High mobility group box domain|High mobility group box domain;High mobility group box domain|High mobility group box domain|High mobility group box domain;High mobility group box domain|High mobility group box domain|High mobility group box domain;High mobility group box domain|High mobility group box domain|High mobility group box domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2632	208.08	25	chr15	77470925	.	G	C	208.08	.	AC=10;AF=0.263;AN=38;BaseQRankSum=-2.769;DP=1005;ExcessHet=6.9875;FS=372.888;InbreedingCoeff=-0.3311;MLEAC=9;MLEAF=0.237;MQ=60;MQRankSum=0;QD=0.37;ReadPosRankSum=0.707;SOR=10.607	GT:AD:DP:GQ:PL	0/1:55,17:72:21:21,0,1277	9	0	10	0
chr15	78101092	78101092	C	T	exonic	SH2D7	.	nonsynonymous SNV	SH2D7:NM_001101404:exon5:c.C839T:p.A280V	.	422	1069	31	0	0	31	0.0142923	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	.	0.0014	0.00459265	0.0037	0.0004	0.0004	0.0001	0	0.0024	0.0051	0.0219	0.0035963	556	154602	rs200468445	0.0033	0.0034	0.0028	0.0038	0.0198	0.0032	0.0032	0.0190	0.0187	0.0004	0.0006	0.0118	5.051e-05	0.0002	0.0104	0.0023	0.0034	0.0198	0.0022	0.0022	0.0022	0.0022	0.0234	0.0020	0.0019	0.0199	0.0186	0.0003	0	0.0006	0.0127	0	0	0	0.0022	0.0019	0.0234	0.097	0.52492	T	0.283	0.21478	T	0.004	0.12183	B	0.006	0.12133	B	0.751469	0.09696	N	0.851362	1	0.08975	N	0.69	0.16971	N	1.48	0.31731	T	-1.67	0.39887	N	0.095	0.08646	-1.0113	0.26510	T	0.043	0.18659	T	10	0.0025669634	0.00039	T	.	.	.	0.011	0.01250	.	.	0.171388866994	0.16791	0.1341926991318437	0.13343	0.0383945426521	0.04090	0.337400346994	0.16049	T	0.002204	0.01604	T	-0.652509	0.00070	T	-0.69578	0.06060	T	0.00164904436769683	0.00017	T	0.510149	0.16261	T	0.060825747	0.12525	0.06729291	0.13903	0.060825747	0.12525	0.06729291	0.13902	-4.203	0.26795	T	.	.	0.133	0.28778	B	.;.	.;.	0.414932	0.07859	4.555	0.82195784847801401	0.14067	0.01596	0.05182	N	AEFDBI	0.083645	0.16947	N	-0.843033345769593	0.12221	0.5944259	-0.817332930343311	0.14075	0.733599	0.987545939951446	0.31289	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.96	0.751	0.17541	-0.666000	0.05380	-0.847000	0.07194	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.772000	0.36596	0.0:0.5467:0.1638:0.2895	4.752	0.12440	790	0.46189	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012588	0.000000	0.000000	0.017544	0.000000	0.000000	0.039634	0.022727	0.05263	2395.83	33	chr15	78101092	.	C	T	2395.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.44;DP=765;ExcessHet=0.119;FS=2.679;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.18;ReadPosRankSum=-0.496;SOR=0.824	GT:AD:DP:GQ:PL	0/1:41,39:80:99:1010,0,1088	17	0	2	0
chr15	82345027	82345110	AGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC	-	exonic	GOLGA6L10	.	nonframeshift deletion	GOLGA6L10:NM_001164465:exon6:c.750_833del:p.R286_L313del,GOLGA6L10:NM_001322400:exon6:c.750_833del:p.R251_L278del	.	637	825	3	0	57	60	0.00181488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0017	0.0007	0.0007	0.0028	0.0007	0.0006	0.0020	0.0017	0.0007	0.0010	0.0026	0.0028	0.0016	0.0008	0.0006	0.0014	0.0005	0.0006	0.0016	0.0005	0.0007	0.0028	0.0004	0.0004	0.0011	0.0007	0.0005	0	0.0003	0.0005	0	0.0017	0	0.0004	0.0010	0.0028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	1978.48	111	chr15	82345026	.	TAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC	T	1978.48	.	AC=5;AF=0.132;AN=38;BaseQRankSum=1.49;DP=2232;ExcessHet=5.6906;FS=1.17;InbreedingCoeff=-0.3098;MLEAC=5;MLEAF=0.132;MQ=41.92;MQRankSum=-2.412;QD=1.77;ReadPosRankSum=0.108;SOR=0.561	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:81,15:96:99:.:.:338,0,3260:.	14	0	5	0
chr15	82345047	82345110	TAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC	0	exonic	GOLGA6L10	.	.	.	.	651	863	6	0	2	8	0.0034642	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	106.96	111	chr15	82345047	.	TAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC	*	106.96	.	AC=12;AF=0.333;AN=36;BaseQRankSum=-1.357;DP=2483;ExcessHet=13.8672;FS=1.209;InbreedingCoeff=-0.5724;MLEAC=13;MLEAF=0.361;MQ=38.64;MQRankSum=-2.151;QD=0.1;ReadPosRankSum=2.39;SOR=0.577	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:81,15:96:99:.:.:338,0,3260:.	6	0	12	1
chr15	82345087	82345087	C	0	exonic	GOLGA6L10	.	.	.	.	748	741	8	0	25	33	0.00536913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	1637.45	111	chr15	82345087	.	C	*	1637.45	.	AC=10;AF=0.263;AN=38;BaseQRankSum=3.81;DP=2350;ExcessHet=13.8672;FS=0.585;InbreedingCoeff=-0.5406;MLEAC=10;MLEAF=0.263;MQ=41.11;MQRankSum=-2.282;QD=1.5;ReadPosRankSum=-2.685;SOR=0.622	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:81,15:96:99:.:.:338,0,3260:.	9	0	10	0
chr15	84512452	84512452	C	0	exonic	GOLGA6L4	.	.	.	.	671	744	60	0	47	107	0.0387597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1389	2926.4	322	chr15	84512452	.	C	*	2926.4	.	AC=5;AF=0.139;AN=36;BaseQRankSum=-1.459;DP=2460;ExcessHet=4.0268;FS=3.021;InbreedingCoeff=-0.2881;MLEAC=5;MLEAF=0.139;MQ=45.99;MQRankSum=-0.666;QD=1.84;ReadPosRankSum=2.54;SOR=0.457	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:160,43:203:99:.:.:1085,0,5346:.	13	0	5	1
chr15	84513296	84513296	T	G	exonic	GOLGA6L4	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1340761536	0.0004	0.0003	0.0002	0.0005	0.0028	0.0003	0.0003	0.0024	0.0023	0	0	0	0	0	0	0	0.0002	0.0028	0.0002	0.0001	0.0001	0.0003	0.0060	0.0001	9.435e-05	0.0035	0.0027	0	0	0.0002	0	0	0	0	0	0	0.0060	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	30.92	10	chr15	84513296	.	T	G	30.92	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.278;DP=122;ExcessHet=0;FS=0;InbreedingCoeff=-0.0608;MLEAC=1;MLEAF=0.026;MQ=22;MQRankSum=0;QD=2.58;ReadPosRankSum=0.786;SOR=0.148	GT:AD:DP:GQ:PL	0/1:9,3:12:44:44,0,205	18	0	1	0
chr15	85247082	85247102	CAGGAGAGGCGGCAGGAGGAG	-	exonic	GOLGA6L3	.	nonframeshift deletion	GOLGA6L3:NM_001310153:exon11:c.1505_1525del:p.G507_A513del	.	435	1078	9	0	0	9	0.00415704	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs1360952351	0.0001	0.0011	9.974e-05	0.0001	0.0001	9.295e-05	8.76e-05	9.94e-05	9.335e-05	3.192e-05	4.948e-05	3.926e-05	0	0.0001	0	0.0001	0.0001	9.614e-05	0.0001	0.0010	0.0001	0.0001	0.0002	7.723e-05	6.402e-05	0.0001	7.955e-05	7.558e-05	0	0.0001	0	0	0	0	0.0002	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	45.29	45	chr15	85247081	.	ACAGGAGAGGCGGCAGGAGGAG	A	45.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.785;DP=748;ExcessHet=0;FS=12.634;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=32.63;MQRankSum=-1.179;QD=0.81;ReadPosRankSum=-0.068;SOR=3.609	GT:AD:DP:GQ:PL	0/1:51,5:56:59:59,0,2103	18	0	1	0
chr15	88626703	88626703	G	A	exonic	AEN	.	nonsynonymous SNV	AEN:NM_022767:exon2:c.G494A:p.R165Q	.	420	1090	12	0	0	12	0.00547445	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	.	.	0.0121805	0.0050	0	0.0002	0	0	6.108e-05	0.0068	0.0357	0.0044372	686	154602	rs200899445	0.0022	0.0022	0.0012	0.0032	0.0340	0.0021	0.0021	0.0330	0.0326	0	4.472e-05	0	7.557e-05	0	0.0029	5.486e-05	0.0024	0.0340	0.0012	0.0012	0.0007	0.0018	0.0377	0.0011	0.0010	0.0332	0.0315	4.81e-05	0	0	0	0.0002	0	0	1.47e-05	0.0009	0.0377	0.122	0.38633	T	0.198	0.46406	T	0.426	0.35504	B	0.135	0.33210	B	0.339945	0.13979	N	0.615929	1	0.08975	N	1.255	0.31814	L	2.13	0.19588	T	-1.82	0.44284	N	0.211	0.23506	-1.0389	0.17648	T	0.035	0.14943	T	10	0.0020347834	0.00029	T	.	.	.	0.018	0.03083	0.444	0.50139	0.165133752707	0.16062	0.24645600362431594	0.24559	0.100238913073	0.11331	0.280011594296	0.07494	T	0.025509	0.28454	T	-0.572887	0.00213	T	-0.569926	0.15456	T	0.0195877320220199	0.00661	T	0.783522	0.45286	T	0.077798955	0.17678	0.093652986	0.22132	0.077798955	0.17678	0.093652986	0.22131	-8.102	0.61764	D	.	.	0.079	0.12371	B	.;.	.;.	2.157721	0.27490	17.48	0.99757228965615097	0.84772	0.13591	0.17943	N	AEFBCI	0.071638	0.14270	N	-0.357069559436553	0.27013	1.478788	-0.295603272592338	0.28243	1.573179	0.999997118940257	0.74766	0.722319	0.85440	0	0.685571	0.66316	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	5.32	3.1	0.34780	0.241000	0.17843	1.471000	0.26753	0.654000	0.53741	0.000000	0.06391	0.115000	0.22839	0.995000	0.73285	0.2925:0.1791:0.5283:0.0	3.987	0.09010	915	0.20917	Exonuclease, RNase T/DNA polymerase III|Exonuclease, RNase T/DNA polymerase III;Exonuclease, RNase T/DNA polymerase III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004032	0.000000	0.000000	0.008772	0.000000	0.000000	0.006098	0.018939	0.02632	1253.33	41	chr15	88626703	.	G	A	1253.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.12;DP=853;ExcessHet=0;FS=5.935;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.57;ReadPosRankSum=-0.873;SOR=1.371	GT:AD:DP:GQ:PL	0/1:44,42:86:99:1267,0,1099	18	0	1	0
chr15	88859394	88859394	G	A	exonic	ACAN	.	nonsynonymous SNV	ACAN:NM_001135:exon12:c.G6809A:p.R2270H,ACAN:NM_001369268:exon12:c.G6809A:p.R2270H,ACAN:NM_013227:exon12:c.G6809A:p.R2270H	Osteochondritis dissecans, short stature, and early-onset osteoarthritis, Autosomal dominant;Spondyloepimetaphyseal dysplasia, aggrecan type;Spondyloepiphyseal dysplasia, Kimberley type, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.0119110794457	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1002981169	1.489e-05	1.642e-05	1.682e-05	1.292e-05	0.0004	9.57e-06	8.12e-06	6.681e-05	5.074e-05	0	0	0	2.743e-05	0	0.0004	7.373e-06	0	0.0001	6.57e-06	6.567e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.483	0.39097	T	0.12	0.35970	T	.	.	.	.	.	.	0.458698	0.04856	N	1.460060	1	0.08975	N	.	.	.	4.65	0.02319	T	-0.78	0.21644	N	0.053	0.04426	-0.9195	0.45621	T	0.009	0.03359	T	10	0.060677618	0.07490	T	0.011911	0.29998	T	0.083	0.24192	0.143	0.04650	0.043077524339	0.03247	0.3457199473406659	0.34485	0.299232278164	0.32289	0.237358480692	0.02557	T	.	.	.	-0.416665	0.01797	T	-0.63797	0.09818	T	0.0957669281054343	0.11884	T	0.368163	0.13811	T	0.026851736	0.01796	0.026173156	0.00692	0.026851736	0.01796	0.026173156	0.00692	-4.084	0.28414	T	0.1267659159798348	0.12860	0.153	0.38300	B	.;.;.;.;.;.	.;.;.;.;.;.	2.340213	0.29987	18.30	0.99546685638147658	0.70836	0.01197	0.04272	N	AEFBI	0.028868	0.02621	N	-0.318866139576084	0.28432	1.568147	-0.416095184351572	0.24524	1.343438	0.00772484641764799	0.11530	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.41	2.01	0.25568	0.944000	0.28641	0.911000	0.22627	0.676000	0.76740	0.001000	0.13787	0.000000	0.08366	0.663000	0.33052	0.3703:0.2069:0.4229:0.0	3.689	0.07872	969	0.06854	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1723.33	45	chr15	88859394	.	G	A	1723.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.6;DP=856;ExcessHet=0;FS=5.267;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.77;ReadPosRankSum=-1.691;SOR=1.164	GT:AD:DP:GQ:PL	0/1:69,66:135:99:1737,0,1629	18	0	1	0
chr15	88909921	88909921	T	C	exonic	MFGE8	.	nonsynonymous SNV	MFGE8:NM_001114614:exon2:c.A76G:p.I26V,MFGE8:NM_005928:exon2:c.A76G:p.I26V,MFGE8:NM_001310320:exon3:c.A52G:p.I18V	.	418	1097	7	0	0	7	0.00318037	.	.	.	726326	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.282	.	7.7e-05	0.0155751	0.0085	0	0.0007	0.0183	0	8.992e-05	0.0077	0.0520	0.0075937	1174	154602	rs143117049	0.0035	0.0035	0.0021	0.0049	0.0502	0.0034	0.0034	0.0490	0.0485	0.0002	0.0002	0	0.0103	1.874e-05	0.0019	7.554e-05	0.0051	0.0502	0.0028	0.0028	0.0018	0.0039	0.0576	0.0026	0.0025	0.0520	0.0499	0.0004	0	0.0005	0	0.0236	0	0	5.879e-05	0.0009	0.0576	0.838	0.16958	T	0.106	0.39799	T	0.005	0.14655	B	0.004	0.10090	B	0.000135	0.49741	D	0.244211	1	0.81001	D	-0.345	0.03330	N	-2.86	0.91421	D	0.08	0.06026	N	0.256	0.29197	-0.6061	0.64565	T	0.265	0.63577	T	10	0.0045621097	0.00095	T	.	.	.	0.282	0.59981	.	.	0.780309997318	0.77828	0.6435828370275465	0.64293	0.0927251273686	0.10471	0.412731528282	0.26835	T	0.044387	0.26799	T	-0.366783	0.03760	T	-0.263129	0.48510	T	0.0157270759769986	0.00364	T	0.350665	0.09032	T	0.019394567	0.00469	0.026178306	0.00694	0.019394567	0.00469	0.026178306	0.00694	-2.388	0.05423	T	.	.	0.079	0.12512	B	.;.;.;.	.;.;.;.	1.552104	0.19892	14.49	0.95068260374652636	0.26104	0.73719	0.36059	D	AEFBCI	0.464936	0.51322	N	-0.539347433875791	0.20819	1.100357	-0.343215859517718	0.26719	1.477697	0.999989497530103	0.51787	0.706548	0.73137	0	0.588015	0.36545	0	0.672317	0.60874	0	0.714379	0.83352	0	.	.	5.39	3.45	0.38602	3.918000	0.56144	3.800000	0.39865	-0.153000	0.12021	1.000000	0.71638	1.000000	0.68203	0.913000	0.44837	0.0:0.1468:0.687:0.1662	9.669	0.39166	958	0.09170	EGF-like domain|EGF-like domain;EGF-like domain|EGF-like domain;EGF-like domain|EGF-like domain;EGF-like domain|EGF-like domain	.	.	.	.	rs143117049	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006546	0.000000	0.001359	0.005882	0.000000	0.000000	0.009146	0.026515	0.05263	3288.83	34	chr15	88909921	.	T	C	3288.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.087;DP=866;ExcessHet=0.119;FS=0.936;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.27;ReadPosRankSum=1.18;SOR=0.608	GT:AD:DP:GQ:PL	0/1:70,54:124:99:1290,0,1833	17	0	2	0
chr15	89215224	89215224	G	A	exonic	RLBP1	.	nonsynonymous SNV	RLBP1:NM_000326:exon6:c.C361T:p.R121W	Bothnia retinal dystrophy, Autosomal recessive;Fundus albipunctatus, Autosomal recessive, Autosomal dominant;Newfoundland rod-cone dystrophy;Retinitis punctata albescens, Autosomal recessive, Autosomal dominant	0	1519	3	0	0	3	0.000986518	.	.	.	422055	Retinal_dystrophy|not_specified|not_provided	Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.920	0.235358670528	.	0.000199681	4.124e-05	9.63e-05	0.0002	0.0002	0	0	0	0	4.53e-05	7	154602	rs201153598	6.772e-05	6.772e-05	7.214e-05	6.325e-05	0.0003	5.67e-05	5.26e-05	6.092e-05	5.461e-05	8.961e-05	8.944e-05	0	2.519e-05	0	0.0003	7.284e-05	0.0001	0	0.0001	0.0001	0.0001	0.0001	0.0002	6.509e-05	5.321e-05	0.0001	8.436e-05	0.0002	0	0.0001	0	0	0	0	7.349e-05	0	0	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.99	0.78936	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.83	0.95627	H	-3.8	0.95696	D	-7.09	0.93950	D	0.988	0.99611	1.065	0.98451	D	0.936	0.97897	D	10	0.98358786	0.98504	D	0.235359	0.88451	D	0.920	0.97965	.	.	0.899993097487	0.89900	0.9167358775907068	0.91648	0.839975404743	0.68004	0.702809154987	0.67551	T	0.905306	0.98174	D	0.266973	0.80169	D	0.499746	0.94626	D	0.987104117870331	0.77667	D	0.975469	0.91344	D	0.8950153	0.90942	0.73306835	0.84225	0.8950153	0.90943	0.73306835	0.84226	-10.749	0.78263	D	0.4690957486359759	0.54988	0.434	0.61424	A	.	.	5.666417	0.92909	33	0.99907380649816036	0.97801	0.94908	0.62748	D	AEFDBI	.	.	.	0.793437178284766	0.85692	8.652941	0.684918022995624	0.81232	7.479168	0.694329882606152	0.22624	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.65	3.66	0.41111	4.501000	0.60115	5.676000	0.49275	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.8458:0.1542	13.769	0.62497	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	999.33	34	chr15	89215224	.	G	A	999.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.7;DP=709;ExcessHet=0;FS=3.687;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.28;ReadPosRankSum=1.06;SOR=1.345	GT:AD:DP:GQ:PL	0/1:35,35:70:99:1013,0,894	18	0	1	0
chr15	89477624	89477624	C	G	exonic	RHCG	.	nonsynonymous SNV	RHCG:NM_001321041:exon7:c.G1005C:p.Q335H,RHCG:NM_016321:exon7:c.G1005C:p.Q335H	.	430	1084	8	0	0	8	0.00367647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.00994568419956	.	0.000199681	0.0002	0	0	0	0	0.0002	0	0.0007	0.0001488	23	154602	rs545843212	8.14e-05	8.14e-05	5.581e-05	0.0001	0.0005	6.935e-05	6.486e-05	0.0003	0.0003	5.974e-05	0.0001	0	0	0	0.0005	6.115e-05	3.312e-05	0.0005	7.882e-05	7.874e-05	8.996e-05	6.717e-05	0.0006	4.495e-05	3.511e-05	0.0002	9.003e-05	2.408e-05	0	0	0	0	0	0	0.0001	0.0005	0.0006	0.607	0.05517	T	0.808	0.03968	T	0.01	0.15535	B	0.015	0.17295	B	0.000000	0.84330	D	0.050352	0.999269	0.46490	D	1.44	0.36004	L	2.07	0.20387	T	0.5	0.02945	N	0.459	0.49602	-1.0532	0.13520	T	0.030	0.12848	T	9	0.13630953	0.25935	T	0.009946	0.25901	T	0.155	0.40530	0.715	0.85051	0.238705975628	0.23479	0.8883357217356472	0.88802	0.485832983668	0.47462	0.460876375437	0.33430	T	0.041588	0.25906	T	-0.347739	0.04870	T	-0.394549	0.34019	T	0.0683294452187839	0.08416	T	0.911709	0.68653	D	0.32897818	0.55387	0.15141785	0.35669	0.32897818	0.55387	0.15141785	0.35669	-4.573	0.31831	T	.	.	0.482	0.63769	A	.	.	2.484169	0.32036	18.92	0.93346901866786325	0.23079	0.90228	0.51239	D	AEFDBI	.	.	.	-0.154881981967217	0.35027	2.006799	0.0464694477199104	0.41901	2.525194	0.0478298065889722	0.14744	0.516011	0.20929	0	0.610034	0.51514	0	0.577349	0.28860	0	0.542086	0.14980	0	.	.	5.58	4.47	0.53770	1.601000	0.36383	2.534000	0.33182	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.1475:0.7208:0.0:0.1317	7.989	0.29387	878	0.29785	Ammonium transporter AmtB-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	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	1587.33	38	chr15	89477624	.	C	G	1587.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.261;DP=754;ExcessHet=0;FS=2.549;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.83;ReadPosRankSum=-0.502;SOR=1.002	GT:AD:DP:GQ:PL	0/1:45,62:107:99:1601,0,1197	18	0	1	0
chr15	89776915	89776915	G	0	exonic	MESP2	.	.	.	Spondylocostal dysostosis 2, autosomal recessive	164	151	35	35	1137	1242	0.257985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9118	2087.72	45	chr15	89776915	.	G	*	2087.72	.	AC=31;AF=0.912;AN=34;DP=1075;ExcessHet=0;FS=0;InbreedingCoeff=0.4414;MLEAC=32;MLEAF=0.941;MQ=60;QD=3.01;SOR=0.704	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,61:61:99:.:.:2579,185,0:.	1	15	1	2
chr15	99712504	99712504	-	CAG	exonic	MEF2A	.	nonframeshift insertion	MEF2A:NM_001130928:exon8:c.1023_1024insCAG:p.Q352_P353insQ,MEF2A:NM_001130926:exon10:c.1227_1228insCAG:p.Q420_P421insQ,MEF2A:NM_001130927:exon10:c.1047_1048insCAG:p.Q360_P361insQ,MEF2A:NM_001365206:exon10:c.1245_1246insCAG:p.Q426_P427insQ,MEF2A:NM_001365207:exon10:c.1233_1234insCAG:p.Q422_P423insQ,MEF2A:NM_001352616:exon11:c.1251_1252insCAG:p.Q428_P429insQ,MEF2A:NM_001352617:exon11:c.1233_1234insCAG:p.Q422_P423insQ,MEF2A:NM_001352618:exon11:c.1245_1246insCAG:p.Q426_P427insQ,MEF2A:NM_001365202:exon11:c.1269_1270insCAG:p.Q434_P435insQ,MEF2A:NM_001365204:exon11:c.1257_1258insCAG:p.Q430_P431insQ,MEF2A:NM_001365205:exon11:c.1251_1252insCAG:p.Q428_P429insQ,MEF2A:NM_001365208:exon11:c.1227_1228insCAG:p.Q420_P421insQ,MEF2A:NM_001365209:exon11:c.1047_1048insCAG:p.Q360_P361insQ,MEF2A:NM_005587:exon11:c.1233_1234insCAG:p.Q422_P423insQ,MEF2A:NM_001171894:exon12:c.1227_1228insCAG:p.Q420_P421insQ,MEF2A:NM_001319206:exon12:c.1251_1252insCAG:p.Q428_P429insQ,MEF2A:NM_001352614:exon12:c.1227_1228insCAG:p.Q420_P421insQ,MEF2A:NM_001365201:exon12:c.1269_1270insCAG:p.Q434_P435insQ,MEF2A:NM_001365203:exon12:c.1257_1258insCAG:p.Q430_P431insQ,MEF2A:NM_001352615:exon13:c.1227_1228insCAG:p.Q420_P421insQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs374033278	0.0029	0.0028	0.0029	0.0028	0.0092	0.0028	0.0027	0.0083	0.0080	0.0092	0.0029	0.0038	0.0026	0.0014	0.0035	0.0027	0.0035	0.0023	0.0044	0.0044	0.0049	0.0039	0.0088	0.0041	0.0040	0.0081	0.0078	0.0088	0	0.0029	0.0043	0.0024	0.0010	0.0034	0.0029	0.0092	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	31018.3	39	chr15	99712504	.	C	CCAG	31018.3	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.196;DP=1827;ExcessHet=0.1862;FS=0.581;InbreedingCoeff=0.2549;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=27.11;ReadPosRankSum=0.469;SOR=0.77	GT:AD:DP:GQ:PL	0/1:2,34:72:99:2663,1374,1375	17	0	2	0
chr16	1348185	1348185	C	T	exonic	BAIAP3	.	nonsynonymous SNV	BAIAP3:NM_001199096:exon32:c.C3131T:p.A1044V,BAIAP3:NM_001199097:exon33:c.C3239T:p.A1080V,BAIAP3:NM_001199098:exon33:c.C3170T:p.A1057V,BAIAP3:NM_001199099:exon33:c.C3155T:p.A1052V,BAIAP3:NM_001286464:exon33:c.C3290T:p.A1097V,BAIAP3:NM_003933:exon33:c.C3344T:p.A1115V	.	430	1091	1	0	0	1	0.000458085	.	.	.	2320285	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.385	0.293228672508	.	.	7.215e-05	0	0	0	0	0	0	0.0005	5.17e-05	8	154602	rs780724620	3.363e-05	3.352e-05	1.776e-05	4.965e-05	0.0005	2.574e-05	2.319e-05	0.0004	0.0003	0	0	0	0	0	0	3.598e-06	6.634e-05	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.01	0.65728	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.0099999999999999	0.07948	N	-0.22	0.66474	T	-2.99	0.62151	D	0.736	0.74553	-0.7305	0.58938	T	0.275	0.64691	T	10	0.8035128	0.79721	D	0.293229	0.90635	D	0.385	0.70194	0.455	0.51938	0.795548414729	0.79365	0.5779761828857274	0.57726	0.447151747283	0.44580	0.844939053059	0.88848	D	0.268482	0.64061	T	-0.225686	0.17223	T	-0.239992	0.50800	T	0.485520479313813	0.32099	T	0.927007	0.75196	D	0.3165641	0.54348	0.22018312	0.46784	0.3165641	0.54348	0.22018312	0.46783	-10.277	0.75554	D	.	.	0.277	0.58120	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.070843	0.41274	21.3	0.99917554142683929	0.98518	0.90617	0.51942	D	AEFBCI	0.742812	0.68632	D	0.106314965926313	0.46757	2.911231	0.0860114157509436	0.43843	2.677805	0.999999559145715	0.74766	0.646311	0.45356	0	0.379588	0.06130	0	0.645312	0.48771	0	0.727631	0.95156	0	.	.	4.65	4.65	0.57626	1.010000	0.29500	4.902000	0.45868	0.599000	0.40250	0.307000	0.25387	1.000000	0.68203	0.004000	0.06068	0.0:1.0:0.0:0.0	15.005	0.71162	862	0.33134	.;.;.;.;C2 domain|C2 domain|C2 domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1440.33	82	chr16	1348185	.	C	T	1440.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.84;DP=976;ExcessHet=0;FS=3.096;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.22;ReadPosRankSum=-0.433;SOR=1.017	GT:AD:DP:GQ:PL	0/1:84,57:141:99:1454,0,2113	18	0	1	0
chr16	2682627	2682627	C	T	exonic	KCTD5	.	nonsynonymous SNV	KCTD5:NM_018992:exon1:c.C79T:p.R27C	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.253	0.44571112274	.	.	4.087e-05	0	0	0	0	7.511e-05	0	0	2.59e-05	4	154602	rs746283358	3.474e-05	3.625e-05	3.383e-05	3.567e-05	3.942e-05	2.66e-05	2.396e-05	2.97e-05	2.639e-05	3.45e-05	2.725e-05	0	0	1.97e-05	0	3.942e-05	5.175e-05	0	3.943e-05	3.94e-05	6.424e-05	1.345e-05	8.823e-05	1.716e-05	1.13e-05	3.763e-05	2.576e-05	0	0	0	0	0	0	0	8.823e-05	0	0	0.009	0.68238	D	0.012	0.83351	D	0.001	0.07471	B	0.001	0.04355	B	0.003267	0.35183	N	0.217169	0.999592	0.47742	D	0.895	0.22405	L	0.54	0.75670	T	-1.93	0.60827	N	0.444	0.48227	-1.0474	0.15130	T	0.086	0.33578	T	10	0.42596036	0.57175	T	0.445711	0.94248	D	0.253	0.56294	0.544	0.65731	0.919406210788	0.91859	0.6569889115355081	0.65635	1.76735228877	0.91241	0.912573575974	0.97708	D	0.049587	0.28350	T	-0.0995209	0.36503	T	-0.179694	0.56551	T	0.241336360770785	0.22481	T	0.872513	0.57956	D	0.13955201	0.32232	0.15904742	0.37112	0.13955201	0.32232	0.15904742	0.37111	-3.459	0.15863	T	.	.	0.403	0.59722	A	.;.	.;.	3.378343	0.46720	22.3	0.99419704321555424	0.63694	0.17497	0.19862	N	AEFGBHCIJ	0.094883	0.19179	N	-0.557978908899758	0.20234	1.065177	-0.473004640675443	0.22900	1.246172	0.999999999976167	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.45	2.32	0.27895	1.064000	0.30189	1.972000	0.29992	0.596000	0.33519	0.133000	0.23395	0.959000	0.29258	0.003000	0.05239	0.185:0.7144:0.0:0.1007	6.053	0.19018	825	0.40060	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1040.33	33	chr16	2682627	.	C	T	1040.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.28;DP=735;ExcessHet=0;FS=0.811;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.1;ReadPosRankSum=-1.73;SOR=0.815	GT:AD:DP:GQ:PL	0/1:45,41:86:99:1054,0,1028	18	0	1	0
chr16	4575930	4575930	C	T	exonic	C16orf96	.	nonsynonymous SNV	C16orf96:NM_001145011:exon5:c.C1450T:p.R484C	.	426	1076	20	0	0	20	0.0092081	.	.	.	703691	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.034	.	0.0081	0.00359425	0.0062	0.0014	0.0049	0	0	0.0124	0.0105	0.0014	0.002128	329	154602	rs185475621	0.0031	0.0030	0.0030	0.0032	0.0219	0.0030	0.0030	0.0187	0.0175	0.0010	0.0044	0.0098	2.798e-05	0.0126	0.0219	0.0026	0.0050	0.0011	0.0074	0.0074	0.0076	0.0071	0.0116	0.0070	0.0069	0.0102	0.0097	0.0018	0	0.0116	0.0159	0	0.0127	0.0340	0.0092	0.0171	0.0021	0.03	0.45393	D	0.001	0.83351	D	0.998	0.73220	D	0.898	0.63708	P	.	.	.	.	1	0.08975	N	0.695	0.17993	N	.	.	.	-1.79	0.42191	N	0.074	0.04790	-1.0846	0.06480	T	0.044	0.18989	T	8	0.005681157	0.00126	T	.	.	.	0.034	0.08419	.	.	0.0666544352282	0.05500	0.03778598341697538	0.03724	.	.	.	.	.	0.005254	0.04698	T	-0.625616	0.00102	T	-0.661042	0.08196	T	0.0243521131946829	0.01189	T	0.642936	0.25461	T	0.08853015	0.20655	0.048997357	0.07397	0.08853015	0.20654	0.048997357	0.07396	-6.412	0.49603	T	.	.	0.149	0.32922	B	.	.	1.869485	0.23749	16.14	0.99656921820020106	0.77694	0.00229	0.01284	N	AEFBI	0.033788	0.04074	N	-0.485404429487925	0.22559	1.205384	-0.710849402510924	0.16691	0.8841411	1.53828782694528E-5	0.02871	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	1.57	1.57	0.22490	-1.823000	0.01804	-0.095000	0.12011	-0.242000	0.07441	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.772:0.0:0.228	3.971	0.08945	520	0.74355	.	.	.	.	.	.	Likely benign	0	0	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	0.031507	0.037500	0.028846	0.035714	0.100000	0.045455	0.006579	0.000000	0.02632	1418.33	38	chr16	4575930	.	C	T	1418.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.22;DP=774;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.64;ReadPosRankSum=-0.013;SOR=0.723	GT:AD:DP:GQ:PL	0/1:52,52:105:99:1432,0,1363	18	0	1	0
chr16	11927452	11927458	GCGGCCC	0	exonic	NPIPB2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	2995.78	34	chr16	11927452	.	GCGGCCC	*	2995.78	.	AC=5;AF=0.132;AN=38;BaseQRankSum=2.46;DP=1582;ExcessHet=2.0135;FS=1.863;InbreedingCoeff=-0.1875;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=3.11;ReadPosRankSum=-1.288;SOR=0.898	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:106,53:159:99:0|1:11927441_GTTCCACCTCAGCGGCCCTCCGCCTCTTGGGTTCGGGTGGTGA_G:1843,0,4137:11927441	14	0	5	0
chr16	11927459	11927495	TCCGCCTCTTGGGTTCGGGTGGTGATTCCACCTCAGC	0	exonic	NPIPB2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	2954.78	34	chr16	11927459	.	TCCGCCTCTTGGGTTCGGGTGGTGATTCCACCTCAGC	*	2954.78	.	AC=5;AF=0.132;AN=38;BaseQRankSum=1.07;DP=1597;ExcessHet=2.0135;FS=2.628;InbreedingCoeff=-0.1875;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=3.02;ReadPosRankSum=-0.684;SOR=0.912	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:106,53:159:99:0|1:11927441_GTTCCACCTCAGCGGCCCTCCGCCTCTTGGGTTCGGGTGGTGA_G:1843,0,4137:11927441	14	0	5	0
chr16	11927475	11927475	G	0	exonic	NPIPB2	.	.	.	.	1	10	87	120	8	335	0.942363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1579	65183.6	187	chr16	11927475	.	G	*	65183.6	.	AC=6;AF=0.158;AN=38;BaseQRankSum=1.94;DP=3186;ExcessHet=0.0151;FS=0.819;InbreedingCoeff=0.4571;MLEAC=6;MLEAF=0.158;MQ=59.99;MQRankSum=0;QD=21.88;ReadPosRankSum=-0.239;SOR=0.763	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,53:157:99:1|0:11927441_GTTCCACCTCAGCGGCCCTCCGCCTCTTGGGTTCGGGTGGTGA_G:5032,3103,4057:11927441	13	0	6	0
chr16	11927729	11927729	T	A	exonic	NPIPB2	.	nonsynonymous SNV	NPIPB2:NM_001355514:exon9:c.A316T:p.T106S	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	.	.	0.00279553	0.0022	0	0.0001	0	0	4.474e-05	0.0015	0.0125	0.0006916	18	26028	rs544179686	0.0006	0.0006	0.0003	0.0009	0.0097	0.0006	0.0006	0.0091	0.0089	0	4.475e-05	0	0	0	0.0007	5.398e-06	0.0006	0.0097	0.0005	0.0005	0.0003	0.0006	0.0134	0.0004	0.0003	0.0108	0.0098	0.0001	0	0	0	0	0	0	0	0.0005	0.0134	0.007	0.59928	D	0.096	0.69154	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.85	0.47130	T	-2.81	0.59389	D	0.079	0.05414	-0.7655	0.57104	T	0.150	0.47699	T	3	0.0060790777	0.00137	T	.	.	.	0.042	0.11227	0.374	0.38667	0.239901079897	0.23603	0.018571685932389784	0.01811	1.02707319515	0.75308	.	.	.	.	.	.	-0.546396	0.00307	T	-0.548241	0.17495	T	0.0522176892409505	0.05885	T	0.770923	0.40277	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.357	0.56997	A	.;.	.;.	1.031240	0.14111	10.69	0.90882057146858375	0.20131	0.00207	0.01180	N	AEFI	0.038711	0.05518	N	-0.764266491465599	0.14248	0.7082318	-1.01842551712478	0.09380	0.4663488	1.09547697404592E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	.	.	.	0.065000	0.14336	-1.849000	0.04615	0.085000	0.17582	0.069000	0.22043	0.000000	0.08366	0.084000	0.17470	.	.	.	758	0.50837	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1924.33	44	chr16	11927729	.	T	A	1924.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.88;DP=950;ExcessHet=0;FS=10.919;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=48.54;MQRankSum=4.9;QD=8.79;ReadPosRankSum=-3.933;SOR=1.348	GT:AD:DP:GQ:PL	0/1:140,79:219:99:1938,0,3699	18	0	1	0
chr16	14582206	14582206	G	C	exonic	PARN	.	nonsynonymous SNV	PARN:NM_001242992:exon16:c.C1029G:p.C343W,PARN:NM_001134477:exon17:c.C984G:p.C328W,PARN:NM_002582:exon17:c.C1167G:p.C389W	Dyskeratosis congenita, autosomal recessive 6, Autosomal recessive;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.641	0.443768951762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0022	0.0008	0.0006	0.0009	0.0007	0.0007	0.0008	0.0008	0.0005	4.476e-05	0.0001	0.0003	0	0.0002	0.0009	0.0006	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.815	0.81989	M	1.91	0.47477	T	-9.08	0.98168	D	0.906	0.93370	-0.6388	0.63197	T	0.257	0.62766	T	10	0.95576084	0.94937	D	0.443769	0.94214	D	0.641	0.86333	0.808	0.92512	0.389283895039	0.38539	0.7594861977466015	0.75896	0.721414007513	0.62234	0.886558771133	0.94825	D	0.366013	0.73134	T	0.23211	0.76920	D	0.0956334	0.76619	D	0.997612833976746	0.91988	D	0.970303	0.89317	D	0.96886563	0.98153	0.88045895	0.93594	0.96886563	0.98153	0.88045895	0.93594	-17.118	0.99008	D	.	.	0.999	0.98765	P	.;.;.;.	.;.;.;.	3.616746	0.51161	23.1	0.9928480025877614	0.58043	0.87022	0.46439	D	AEFBI	0.686411	0.64809	D	0.0378907468480801	0.43587	2.648657	-0.0492109747885764	0.37524	2.19827	0.0661472356186695	0.15384	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.81	0.019	0.13441	0.292000	0.18766	1.715000	0.28221	-0.681000	0.04224	0.982000	0.35529	1.000000	0.68203	0.977000	0.56843	0.4191:0.0:0.5809:0.0	11.520	0.49794	731	0.54177	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3947	3525.85	234	chr16	14582206	.	G	C	3525.85	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-2.534;DP=3197;ExcessHet=20.8569;FS=372.816;InbreedingCoeff=-0.6523;MLEAC=15;MLEAF=0.395;MQ=60;MQRankSum=0;QD=1.44;ReadPosRankSum=1.41;SOR=13.96	GT:AD:DP:GQ:PL	0/1:91,66:157:99:261,0,1638	4	0	15	0
chr16	14667708	14667711	CCCC	-	exonic	BFAR	.	frameshift deletion	BFAR:NM_001330500:exon6:c.859_862del:p.P287Sfs*45,BFAR:NM_016561:exon8:c.1234_1237del:p.P412Sfs*45	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	1416.55	75	chr16	14667707	.	GCCCC	G	1416.55	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-0.548;DP=1073;ExcessHet=4.0268;FS=83.656;InbreedingCoeff=-0.2788;MLEAC=8;MLEAF=0.211;MQ=60;MQRankSum=0;QD=2.24;ReadPosRankSum=0.47;SOR=9.431	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:64,15:79:99:0|1:14667707_GCCCC_G:228,0,2513:14667707	11	0	8	0
chr16	14667711	14667711	-	TGGG	exonic	BFAR	.	frameshift insertion	BFAR:NM_001330500:exon6:c.862_863insTGGG:p.I289Gfs*18,BFAR:NM_016561:exon8:c.1237_1238insTGGG:p.I414Gfs*18	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	1294.52	71	chr16	14667711	.	C	CTGGG	1294.52	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.478;DP=1124;ExcessHet=4.0268;FS=78.34;InbreedingCoeff=-0.2788;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=2.06;ReadPosRankSum=0.638;SOR=9.332	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:64,14:78:99:0|1:14667707_GCCCC_G:203,0,2516:14667707	16	0	3	0
chr16	19309028	19309028	C	G	exonic	CLEC19A	.	nonsynonymous SNV	CLEC19A:NM_001256720:exon5:c.C506G:p.T169S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.870753	0.28210	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11349395	0.21324	T	.	.	.	.	.	.	.	.	.	0.20559373636065106	0.20476	.	.	0.310850739479	0.12036	T	.	.	.	.	.	.	.	.	.	.	.	.	0.475352	0.14216	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.22537	B	.	.	0.952321	0.13286	9.786	0.7385282109635436	0.10479	0.39160	0.26150	N	AEFBCI	.	.	.	.	.	.	.	.	.	0.0152047572176831	0.12686	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.057018	0.00518	0	0.0557263	0.13060	4.61	2.63	0.30420	1.269000	0.32677	0.325000	0.17225	-0.872000	0.02536	0.991000	0.37257	0.041000	0.21590	0.772000	0.36596	0.0:0.6297:0.2215:0.1488	8.49	0.32255	917	0.20147	C-type lectin-like|C-type lectin, conserved site|C-type lectin-like|C-type lectin-like|CEL-1-like C-type lectin-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1913.33	39	chr16	19309028	.	C	G	1913.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.07;DP=776;ExcessHet=0;FS=0.64;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.07;ReadPosRankSum=0.279;SOR=0.78	GT:AD:DP:GQ:PL	0/1:64,72:136:99:1927,0,1627	18	0	1	0
chr16	20346184	20346184	C	T	exonic	UMOD	.	nonsynonymous SNV	UMOD:NM_001008389:exon5:c.G1124A:p.R375Q,UMOD:NM_001378234:exon5:c.G1124A:p.R375Q,UMOD:NM_001378235:exon5:c.G1124A:p.R375Q,UMOD:NM_003361:exon5:c.G1124A:p.R375Q,UMOD:NM_001278614:exon6:c.G1223A:p.R408Q,UMOD:NM_001378232:exon6:c.G1124A:p.R375Q,UMOD:NM_001378233:exon6:c.G1124A:p.R375Q,UMOD:NM_001378237:exon6:c.G1124A:p.R375Q	Glomerulocystic kidney disease with hyperuricemia and isosthenuria;Hyperuricemic nephropathy, familial juvenile 1, Autosomal dominant;Medullary cystic kidney disease 2	0	1506	16	0	0	16	0.00528402	.	.	.	703545	not_provided|Familial_juvenile_hyperuricemic_nephropathy_type_1	MedGen:C3661900|MONDO:MONDO:0008073,MedGen:C4551496,OMIM:162000,Orphanet:209886,Orphanet:34149,Orphanet:88950	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.097	0.0683601995499	0.0005	0.00139776	0.0008	0	0.0003	0	0	0.0003	0.0066	0.0036	0.0006727	104	154602	rs151061376	0.0005	0.0005	0.0004	0.0006	0.0056	0.0004	0.0004	0.0040	0.0035	0.0001	0.0010	0.0013	0	0	0.0056	0.0003	0.0006	0.0029	0.0003	0.0003	0.0003	0.0003	0.0023	0.0002	0.0002	0.0013	0.0010	4.808e-05	0	0.0005	0.0026	0	0	0.0034	0.0002	0.0014	0.0023	0.253	0.20381	T	0.292	0.24264	T	0.104	0.25941	B	0.036	0.22909	B	0.051904	0.22940	N	0.309092	0.99997	0.18612	N	0.625	0.15840	N	-1.59	0.82076	D	-0.35	0.12847	N	0.172	0.24260	-0.8347	0.52996	T	0.238	0.60559	T	10	0.010872722	0.00240	T	0.06836	0.70429	D	0.097	0.27909	.	.	0.372993862945	0.36913	0.42573792019316464	0.42490	0.145579570331	0.16448	0.268536508083	0.05950	T	.	.	.	-0.440334	0.01288	T	-0.408336	0.32417	T	0.0150915128853855	0.00327	T	0.644935	0.25655	T	0.07107321	0.15706	0.06944995	0.14635	0.07107321	0.15706	0.06944995	0.14634	-2.481	0.05653	T	0.13877010277427015	0.15383	0.088	0.11845	B	.;.;.;.	.;.;.;.	2.229180	0.28453	17.80	0.94449044805868143	0.24878	0.04307	0.09857	N	AEFBI	0.078467	0.15833	N	-0.66869644954916	0.16917	0.8661519	-0.680521341231634	0.17448	0.9278165	1.16367304598893E-5	0.02871	0.569682	0.32691	0	0.59043	0.45803	0	0.547309	0.15389	0	0.567339	0.31927	0	.	.	4.85	0.019	0.13439	0.471000	0.21811	0.819000	0.21831	0.549000	0.26987	0.984000	0.35821	0.017000	0.20586	0.122000	0.19250	0.0:0.5681:0.0:0.4319	7.712	0.27847	840	0.37365	.;Zona pellucida domain|Zona pellucida domain|Zona pellucida domain;Zona pellucida domain|Zona pellucida domain|Zona pellucida domain;Zona pellucida domain|Zona pellucida domain|Zona pellucida 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	0.002518	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	1339.33	34	chr16	20346184	.	C	T	1339.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.022;DP=752;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.4;ReadPosRankSum=0.653;SOR=0.683	GT:AD:DP:GQ:PL	0/1:50,58:108:99:1353,0,1090	18	0	1	0
chr16	21122018	21122018	G	A	exonic	DNAH3	.	nonsynonymous SNV	DNAH3:NM_017539:exon10:c.C1511T:p.S504F,DNAH3:NM_001347886:exon11:c.C1424T:p.S475F	.	436	1074	10	2	0	14	0.00647549	.	.	.	3185191	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.196	.	0.0039	0.00399361	0.0040	0.0008	0.0044	0.0001	0.0003	0.0055	0.0055	0.0032	0.0043725	676	154602	rs140516491	0.0058	0.0058	0.0059	0.0058	0.0090	0.0057	0.0057	0.0071	0.0066	0.0014	0.0057	0.0003	2.52e-05	0.0003	0.0090	0.0068	0.0053	0.0032	0.0040	0.0040	0.0043	0.0037	0.0073	0.0037	0.0036	0.0062	0.0058	0.0013	0	0.0073	0	0	0.0002	0.0068	0.0060	0.0062	0.0031	0.011	0.55530	D	.	.	.	0.916	0.50672	P	0.713	0.54588	P	0.047817	0.23309	N	0.449033	0.565036	0.31225	N	2.36	0.67893	M	1.78	0.25678	T	-3.56	0.68880	D	0.556	0.58117	-0.9080	0.47097	T	0.067	0.27468	T	10	0.013245195	0.00282	T	.	.	.	0.196	0.47777	.	.	0.42130639912	0.41750	0.5009426410800479	0.50016	0.181760226822	0.20427	0.391569674015	0.23891	T	0.424061	0.77462	T	-0.416422	0.01803	T	-0.359261	0.38138	T	0.0329234259363974	0.02458	T	0.766923	0.39491	T	0.26528752	0.49597	0.27358353	0.53279	0.26528752	0.49597	0.27358353	0.53278	-8.304	0.63122	D	.	.	0.331	0.55320	B	.	.	3.463164	0.48278	22.6	0.99386293601560449	0.62113	0.76493	0.37520	D	AEFBI	0.148778	0.27274	N	0.450896096621702	0.64254	4.675805	0.422413094791697	0.62963	4.521099	0.0416429066916671	0.14492	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.36	5.36	0.76624	2.748000	0.47160	8.543000	0.77500	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.843000	0.39806	0.0:0.0:0.8431:0.1569	13.498	0.60888	462	0.78611	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009567	0.000000	0.004076	0.017544	0.050000	0.000000	0.006098	0.022727	0.02632	1170.33	33	chr16	21122018	.	G	A	1170.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.26;DP=729;ExcessHet=0;FS=4.809;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.15;ReadPosRankSum=1.19;SOR=0.635	GT:AD:DP:GQ:PL	0/1:60,45:105:99:1184,0,1439	18	0	1	0
chr16	22534472	22534472	G	A	exonic	NPIPB5	.	nonsynonymous SNV	NPIPB5:NM_001135865:exon7:c.G1489A:p.E497K	.	589	932	1	0	0	1	0.000536193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.00138864416403	.	.	0.0005	0	9.178e-05	0	0	0	0	0.0039	3.84e-05	1	26028	rs777320793	5.443e-05	0.0002	4.957e-05	5.888e-05	0.0005	4.172e-05	3.731e-05	0.0004	0.0003	0	2.472e-05	0	5.458e-05	0	0	8.925e-06	2.481e-05	0.0005	6.465e-05	0.0002	6.255e-05	6.691e-05	0.0016	3.175e-05	2.304e-05	0.0007	0.0005	0	0	0	0	0	0	0	3.361e-05	0	0.0016	0.101	0.30375	T	0.405	0.19421	T	0.911	0.50336	P	0.899	0.63802	P	.	.	.	.	1	0.08975	N	.	.	.	2.15	0.19311	T	-1.0	0.26422	N	0.076	0.05037	-1.0466	0.15361	T	0.062	0.25923	T	7	0.0117455125	0.00255	T	0.001389	0.02037	T	0.052	0.14661	0.288	0.24761	0.0138822411134	0.00435	0.13605976221334456	0.13529	.	.	.	.	.	0.016841	0.13845	T	-0.423453	0.01626	T	-0.571737	0.15290	T	0.39772292971611	0.28856	T	0.705629	0.39208	T	0.11188483	0.26437	0.121419765	0.29295	0.11188483	0.26437	0.121419765	0.29295	-9.988	0.73840	D	.	.	0.914	0.83726	P	.;.;.;.;.	.;.;.;.;.	1.943162	0.24678	16.49	0.9928821777697332	0.58149	0.00181	0.01060	N	AEFI	0.028875	0.02624	N	-0.478764144416611	0.22778	1.218651	-0.711747929783522	0.16668	0.8828574	1.64675026946072E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	.	.	.	0.123000	0.15536	-3.449000	0.02779	0.128000	0.17653	0.011000	0.18532	0.000000	0.08366	0.012000	0.09680	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1019.33	37	chr16	22534472	.	G	A	1019.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.54;DP=1590;ExcessHet=0;FS=0.999;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=51.14;MQRankSum=2.86;QD=2.65;ReadPosRankSum=-2.893;SOR=0.791	GT:AD:DP:GQ:PL	0/1:311,74:385:99:1033,0,7442	18	0	1	0
chr16	23682122	23682122	C	T	exonic	PLK1	.	nonsynonymous SNV	PLK1:NM_005030:exon4:c.C781T:p.L261F	.	431	1068	22	1	0	24	0.0111111	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	.	0.0030	0.00299521	0.0030	0.0007	0.0004	0	0.0002	0.0031	0.0022	0.0088	0.0030142	466	154602	rs35056440	0.0035	0.0036	0.0034	0.0037	0.0091	0.0035	0.0034	0.0086	0.0084	0.0005	0.0006	0.0009	2.522e-05	0.0003	0.0031	0.0037	0.0027	0.0091	0.0022	0.0022	0.0022	0.0021	0.0093	0.0020	0.0019	0.0072	0.0064	0.0006	0	0.0008	0.0009	0	0.0002	0	0.0035	0.0028	0.0093	0.078	0.33923	T	0.05	0.48080	T	0.052	0.22494	B	0.094	0.30180	B	0.000008	0.62929	D	0.143821	0.984255	0.40121	D	1.45	0.36711	L	-0.15	0.65192	T	-0.8	0.22078	N	0.206	0.22870	-0.8885	0.49063	T	0.153	0.48205	T	10	0.01010105	0.00226	T	.	.	.	0.048	0.13305	.	.	0.470684501043	0.46696	0.34128735430968515	0.34041	1.23657706264	0.81487	0.658019423485	0.61125	T	0.080503	0.36379	T	-0.393341	0.02559	T	-0.332516	0.41188	T	0.0102229301445178	0.00139	T	0.933807	0.86839	D	0.2704779	0.50120	0.20118128	0.44086	0.2704779	0.50119	0.20118128	0.44085	-6.689	0.51728	T	.	.	0.174	0.38172	B	.;.;.	.;.;.	3.603103	0.50905	23.0	0.99681488349060943	0.79307	0.87737	0.47378	D	AEFDBCI	0.478636	0.52112	N	0.03222409417133	0.43325	2.627675	0.230196518588936	0.51531	3.334822	0.999999711100228	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.85	4.85	0.62375	3.378000	0.52164	6.094000	0.53477	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.306:0.694:0.0:0.0	10.796	0.45661	368	0.84463	Protein kinase domain|Protein kinase domain|Protein kinase domain|Polo-like kinase 1, catalytic 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	0.005035	0.000000	0.002717	0.000000	0.000000	0.008621	0.018293	0.011364	0.02632	1532.33	33	chr16	23682122	.	C	T	1532.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.77;DP=750;ExcessHet=0;FS=4.284;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.36;ReadPosRankSum=0.128;SOR=1.071	GT:AD:DP:GQ:PL	0/1:64,60:124:99:1546,0,1613	18	0	1	0
chr16	23710523	23710523	C	T	exonic	ERN2	.	nonsynonymous SNV	ERN2:NM_001308220:exon3:c.G226A:p.V76I,ERN2:NM_033266:exon3:c.G226A:p.V76I	.	425	1033	61	3	0	67	0.0314112	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	.	0.0025	0.00579073	0.0057	0.0004	0.0013	0.0005	0.0009	0.0032	0.0044	0.0271	0.0051681	799	154602	rs150200841	0.0037	0.0037	0.0027	0.0047	0.0285	0.0036	0.0036	0.0275	0.0271	0.0004	0.0022	0.0072	0.0002	0.0011	0.0212	0.0020	0.0044	0.0285	0.0026	0.0026	0.0021	0.0030	0.0257	0.0023	0.0023	0.0220	0.0206	0.0004	0	0.0016	0.0072	0.0004	0.0006	0.0204	0.0026	0.0047	0.0257	0.125	0.27310	T	0.265	0.25514	T	0.902	0.49745	P	0.167	0.35118	B	0.000922	0.41028	D	0.226724	0.959256	0.38117	D	0.935	0.23595	L	0.41	0.57100	T	-0.53	0.16393	N	0.434	0.47301	-0.9834	0.34211	T	0.080	0.31556	T	10	0.008725643	0.00198	T	.	.	.	0.129	0.35316	.	.	0.779331883665	0.77729	0.28674151242258855	0.28587	0.335070030475	0.35518	0.355879753828	0.18784	T	0.060599	0.31430	T	-0.438073	0.01327	T	-0.382441	0.35437	T	0.0125137267359404	0.00207	T	0.748325	0.36895	T	0.059365295	0.12056	0.12874185	0.30967	0.059365295	0.12055	0.12874185	0.30967	-6.648	0.51418	T	.	.	0.095	0.14842	B	.;.	.;.	3.464842	0.48308	22.6	0.989779952778573	0.49680	0.92195	0.55157	D	AEFBI	0.242587	0.36401	N	0.119815519159688	0.47389	2.965184	0.192833246547164	0.49452	3.14833	0.975892739164718	0.29674	0.516011	0.20929	0	0.573888	0.26702	0	0.577349	0.28860	0	0.530356	0.10902	0	.	.	4.91	4.91	0.63897	1.918000	0.39636	4.738000	0.44591	0.599000	0.40250	0.964000	0.33853	1.000000	0.68203	0.694000	0.33958	0.0:1.0:0.0:0.0	15.646	0.76800	588	0.69043	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.018630	0.005051	0.012228	0.038012	0.050000	0.000000	0.027439	0.022727	0.07895	3808.79	38	chr16	23710523	.	C	T	3808.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.881;DP=924;ExcessHet=0.3672;FS=1.394;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=13.04;ReadPosRankSum=-0.297;SOR=0.806	GT:AD:DP:GQ:PL	0/1:49,46:95:99:1117,0,1130	16	0	3	0
chr16	24910305	24910305	G	-	splicing	SLC5A11	NM_001258414:exon14:c.1183-1G>-;NM_001258412:exon14:c.1441-1G>-;NM_001258411:exon15:c.1546-1G>-;NM_001352242:exon16:c.1651-1G>-;NM_001258413:exon15:c.1459-1G>-;NM_001352246:exon15:c.1375-1G>-;NM_001352248:exon16:c.1651-1G>-;NM_001352247:exon14:c.1270-1G>-;NM_001352250:exon15:c.1570-1G>-;NM_001352259:exon15:c.1459-1G>-;NM_001352238:exon15:c.1546-1G>-;NM_001352249:exon18:c.1459-1G>-;NM_001352237:exon14:c.1354-1G>-;NM_001352236:exon16:c.1459-1G>-;NM_001352235:exon17:c.1612-1G>-;NM_001352245:exon15:c.1375-1G>-;NM_052944:exon15:c.1651-1G>-	.	.	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.253e-06	0	0	0	0	0	0	6.1e-05	3.84e-05	1	26028	rs767014276	1.368e-06	1.368e-06	0	2.751e-06	1.16e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	0	1.656e-05	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1806.29	35	chr16	24910304	.	AG	A	1806.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.37;DP=718;ExcessHet=0;FS=2.652;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.2;ReadPosRankSum=0.489;SOR=0.98	GT:AD:DP:GQ:PL	0/1:48,57:105:99:1820,0,1478	18	0	1	0
chr16	29485229	29485229	C	T	exonic	NPIPB12	.	nonsynonymous SNV	NPIPB12:NM_001355401:exon8:c.G1247A:p.R416Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.0407928883201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0005	0.0004	0.0004	0.0005	0.0003	0.0003	0.0005	0.0004	6.292e-05	0.0002	0.0003	3.547e-05	6.413e-05	0.0004	0.0005	0.0008	3.365e-05	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.33	0.13131	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999998	0.08975	N	.	.	.	1.97	0.22067	T	-0.15	0.09297	N	.	.	-0.9705	0.37094	T	0.031	0.13242	T	3	0.09986949	0.18153	T	0.040793	0.59575	D	0.063	0.18251	0.176	0.08257	0.12205267543	0.11705	.	.	.	.	.	.	.	.	.	.	-0.309163	0.07821	T	-0.681867	0.06871	T	0.0808867977528074	0.10100	T	0.541546	0.18382	T	.	.	.	.	.	.	.	.	-9.567	0.71276	D	.	.	0.211	0.43949	B	.	.	0.749447	0.11188	7.827	0.93521578877102962	0.23338	0.00086	0.00577	N	AEFI	0.039767	0.05821	N	-0.259186709457006	0.30736	1.716752	-0.379277353389978	0.25615	1.409776	1.09648973830877E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	.	.	.	0.105000	0.15169	-3.364000	0.02844	0.116000	0.17634	0.003000	0.16062	0.000000	0.08366	0.003000	0.05239	.	.	.	749	0.51929	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02778	106.71	50	chr16	29485229	.	C	T	106.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=2.78;DP=709;ExcessHet=0;FS=0;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=25.61;MQRankSum=1.49;QD=2.96;ReadPosRankSum=0.772;SOR=0.092	GT:AD:DP:GQ:PL	0/1:28,8:36:99:120,0,756	17	0	1	1
chr16	29485668	29485668	C	0	exonic	NPIPB12	.	.	.	.	580	711	64	0	167	231	0.0430686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3529	533.97	122	chr16	29485668	.	C	*	533.97	.	AC=12;AF=0.353;AN=34;BaseQRankSum=-2.51;DP=2515;ExcessHet=20.8569;FS=6.844;InbreedingCoeff=-0.7273;MLEAC=13;MLEAF=0.382;MQ=28.71;MQRankSum=-1.012;QD=0.28;ReadPosRankSum=-0.682;SOR=0.237	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:68,18:95:99:1|0:29485610_ACACACTC_A:405,0,2270:29485610	5	0	12	2
chr16	52439601	52439603	TGC	-	exonic	TOX3	.	nonframeshift deletion	TOX3:NM_001080430:exon7:c.1353_1355del:p.Q455del,TOX3:NM_001146188:exon8:c.1338_1340del:p.Q450del	.	412	1088	2	0	20	22	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0239	0.00539137	0.0048	0.0252	0.0093	0.0027	0.0008	0.0026	0.0019	0.0022	0.0001537	4	26028	rs546327959	0.0010	0.0041	0.0011	0.0010	0.0148	0.0010	0.0010	0.0138	0.0133	0.0148	0.0014	0.0002	0.0004	3.78e-05	0.0009	0.0007	0.0023	0.0002	0.0045	0.0045	0.0043	0.0046	0.0149	0.0042	0.0041	0.0140	0.0136	0.0149	0	0.0023	0	0.0002	0	0	0.0003	0.0019	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	736.29	34	chr16	52439600	.	TTGC	T	736.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.729;DP=732;ExcessHet=0;FS=2.824;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.73;ReadPosRankSum=-1.197;SOR=0.348	GT:AD:DP:GQ:PL	0/1:24,20:44:99:750,0,921	18	0	1	0
chr16	57440828	57440828	G	A	exonic	CIAPIN1	.	nonsynonymous SNV	CIAPIN1:NM_001308347:exon2:c.C101T:p.A34V,CIAPIN1:NM_001308358:exon2:c.C101T:p.A34V,CIAPIN1:NM_020313:exon2:c.C101T:p.A34V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.00112056683334	.	.	1.657e-05	0	0	0	0	1.499e-05	0	6.08e-05	1.94e-05	3	154602	rs11557672	5.542e-05	5.541e-05	4.629e-05	6.464e-05	0.0003	4.544e-05	4.156e-05	0.0001	0.0001	0.0003	2.237e-05	0	0.0001	0	0.0002	5.396e-05	1.656e-05	4.638e-05	8.547e-05	8.537e-05	0.0001	5.384e-05	0.0001	4.96e-05	3.965e-05	5.842e-05	4.239e-05	0.0001	0	0	0	0	0	0	0.0001	0	0	0.305	0.23813	T	0.295	0.24123	T	0.001	0.14184	B	0.0	0.04355	B	0.477654	0.04962	N	1.395360	1	0.08975	P	0.65	0.16133	N	1.49	0.33412	T	-1.32	0.37566	N	0.077	0.18239	-1.0668	0.10131	T	0.058	0.24502	T	9	0.03337139	0.01511	T	0.001121	0.01360	T	0.053	0.14996	0.417	0.45709	0.144782658237	0.14088	0.32444584737623094	0.32357	0.212098222212	0.23704	0.227265760303	0.01772	T	0.046331	0.27392	T	-0.551488	0.00286	T	-0.793282	0.02076	T	0.0164061984973536	0.00407	T	0.0640936	0.00676	T	0.046205677	0.07694	0.042382166	0.05034	0.046205677	0.07694	0.042382166	0.05034	-4.778	0.34333	T	.	.	0.064	0.02578	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.447254	0.08175	4.908	0.89077577347350756	0.18492	0.02201	0.06424	N	AEFDGBIJ	0.032384	0.03648	N	-1.36069717930519	0.03015	0.1340455	-1.50325739058306	0.02319	0.1064677	0.999999999284007	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.98	-9.96	0.00366	-1.089000	0.03486	-1.317000	0.05732	-0.046000	0.17342	0.000000	0.06391	0.000000	0.08366	0.982000	0.59238	0.0939:0.1347:0.3108:0.4606	3.789	0.08233	713	0.56348	Methyltransferase type 11;.;Methyltransferase type 11;Methyltransferase type 11;Methyltransferase type 11;Methyltransferase type 11;Methyltransferase type 11	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2111.33	41	chr16	57440828	.	G	A	2111.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.278;DP=796;ExcessHet=0;FS=1.294;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.27;ReadPosRankSum=-0.642;SOR=0.81	GT:AD:DP:GQ:PL	0/1:66,82:148:99:2125,0,1623	18	0	1	0
chr16	57727369	57727369	C	A	exonic	DRC7	.	nonsynonymous SNV	DRC7:NM_001289163:exon14:c.C1961A:p.T654N,DRC7:NM_032269:exon15:c.C2156A:p.T719N,DRC7:NM_001289162:exon16:c.C2156A:p.T719N	.	425	1082	15	0	0	15	0.00688389	.	.	.	2382995	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.190	0.0173116942662	0.0005	0.000798722	0.0009	0.0002	0.0015	0.0001	0.0002	0.0012	0.0011	0.0008	0.0008991	139	154602	rs140762606	0.0008	0.0008	0.0007	0.0008	0.0177	0.0007	0.0007	0.0149	0.0139	0.0003	0.0013	0.0015	0	9.439e-05	0.0177	0.0007	0.0013	0.0008	0.0009	0.0009	0.0008	0.0009	0.0016	0.0007	0.0007	0.0011	0.0009	0.0002	0.0219	0.0016	0.0023	0.0002	0	0	0.0010	0.0005	0.0004	0.002	0.72154	D	0.007	0.69154	D	1.0	0.90584	D	0.997	0.88582	D	0.002772	0.35968	N	0.267208	0.999994	0.58761	D	.	.	.	2.9	0.11839	T	-3.81	0.74193	D	0.348	0.39962	-0.9171	0.45945	T	0.116	0.41031	T	10	0.0111756325	0.00245	T	0.017312	0.38957	T	0.190	0.46781	.	.	0.315903272564	0.31202	0.6341422282905357	0.63348	0.262623937004	0.28828	0.705690860748	0.67968	T	0.261101	0.63255	T	-0.355302	0.04402	T	-0.30777	0.43898	T	0.0801970873725517	0.10012	T	0.889011	0.63166	D	0.76812834	0.81935	0.80379045	0.88508	0.76812834	0.81937	0.80379045	0.88508	-3.826	0.21193	T	.	.	0.360	0.58919	A	.;.;.	.;.;.	3.953076	0.57923	23.9	0.99381531878884688	0.61891	0.92372	0.55559	D	AEFDI	0.504910	0.53627	D	0.564766054813788	0.70986	5.582712	0.469142162123264	0.65954	4.889665	0.999757376485812	0.42595	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.47	4.47	0.53770	2.832000	0.47853	5.850000	0.50329	0.547000	0.25779	1.000000	0.71638	1.000000	0.68203	0.972000	0.54974	0.0:1.0:0.0:0.0	16.099	0.80961	867	0.32089	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006048	0.000000	0.008152	0.014620	0.000000	0.008621	0.003067	0.003788	0.05263	2780.83	34	chr16	57727369	.	C	A	2780.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.29;DP=862;ExcessHet=0.119;FS=0.452;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.53;ReadPosRankSum=1.87;SOR=0.659	GT:AD:DP:GQ:PL	0/1:71,54:125:99:1412,0,1959	17	0	2	0
chr16	66480891	66480891	G	A	exonic	BEAN1	.	nonsynonymous SNV	BEAN1:NM_001136106:exon4:c.G419A:p.R140Q,BEAN1:NM_001178020:exon5:c.G746A:p.R249Q	Spinocerebellar ataxia 31, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.00568427524921	.	0.000199681	0.0003	0	0	0	0	0	0	0.0031	2.59e-05	4	154602	rs549207242	6.47e-05	6.841e-05	4.588e-05	8.465e-05	0.0010	5.352e-05	4.93e-05	0.0008	0.0007	0	4.091e-05	0	5.768e-05	2.31e-05	0	7.721e-06	0.0001	0.0010	4.598e-05	4.593e-05	7.71e-05	1.343e-05	0.0008	2.108e-05	1.526e-05	0.0003	0.0002	4.812e-05	0	0	0	0	0	0	1.471e-05	0	0.0008	0.85	0.03117	T	0.47	0.12246	T	0.009	0.15093	B	0.001	0.04355	B	0.327479	0.04111	N	1.556400	1	0.08975	N	0.9	0.23182	L	.	.	.	-0.13	0.09135	N	0.063	0.06322	-0.9558	0.39952	T	0.048	0.20395	T	9	0.0047602654	0.00101	T	0.005684	0.14712	T	0.032	0.07718	.	.	0.0138822411134	0.00435	0.0859665364413383	0.08530	.	.	0.326242804527	0.14366	T	0.004767	0.04184	T	-0.666838	0.00057	T	-0.743873	0.03729	T	0.00780670281434764	0.00091	T	0.642936	0.25461	T	0.018478103	0.00369	0.03240779	0.01971	0.018478103	0.00369	0.03240779	0.01970	-3.211	0.15218	T	.	.	0.069	0.03128	B	.;.	.;.	0.089501	0.04936	1.508	0.57507209266368542	0.05784	0.03767	0.09080	N	AEFDBHCI	0.044699	0.07225	N	-1.74033429142936	0.00708	0.03057508	-1.76316699515044	0.00884	0.03953681	0.999999866484349	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.44	-4.85	0.02911	-0.374000	0.07541	-0.699000	0.07803	-0.680000	0.04236	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.7531:0.0:0.2469:0.0	12.099	0.53072	432	0.80690	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	758.33	34	chr16	66480891	.	G	A	758.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.22;DP=719;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=2.2;SOR=0.647	GT:AD:DP:GQ:PL	0/1:43,26:69:99:772,0,1107	18	0	1	0
chr16	67230180	67230180	C	A	exonic	FHOD1	.	nonsynonymous SNV	FHOD1:NM_013241:exon20:c.G3100T:p.V1034F,FHOD1:NM_001318202:exon22:c.G3178T:p.V1060F	.	418	1095	9	0	0	9	0.00409277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	.	0.0003	0.014377	0.0097	0.0007	0.0006	0.0017	0	1.501e-05	0.0055	0.0686	0.0082664	1278	154602	rs146514223	0.0039	0.0039	0.0022	0.0056	0.0622	0.0038	0.0038	0.0608	0.0602	0.0003	8.944e-05	3.826e-05	0.0016	0	0.0017	2.878e-05	0.0044	0.0622	0.0021	0.0021	0.0011	0.0032	0.0578	0.0019	0.0019	0.0522	0.0500	0.0004	0	0.0003	0	0.0035	0	0	1.47e-05	0.0024	0.0578	0.126	0.27194	T	0.283	0.21478	T	0.542	0.37927	P	0.22	0.37792	B	0.101882	0.19818	N	0.542263	0.964308	0.39981	D	2.52	0.73523	M	1.22	0.37052	T	-1.45	0.35597	N	0.405	0.44570	-1.0654	0.10456	T	0.081	0.32119	T	10	0.0030546486	0.00050	T	.	.	.	0.049	0.13647	.	.	0.647617134539	0.64469	0.2737673664105686	0.27289	0.364620806895	0.38079	0.469140261412	0.34561	T	0.038751	0.24948	T	-0.47986	0.00740	T	-0.412595	0.31926	T	0.00336669596313559	0.00035	T	0.678032	0.28700	T	0.09554652	0.22489	0.0645615	0.12958	0.09554652	0.22489	0.0645615	0.12957	-5.17	0.38635	T	.	.	0.102	0.18080	B	.	.	2.729566	0.35726	19.97	0.98811672444758258	0.46623	0.97873	0.77771	D	AEFGBCI	0.424698	0.48976	N	-0.0940516455453432	0.37654	2.193736	-0.0723755983642936	0.36536	2.127577	0.999984130125693	0.51787	0.67177	0.52595	0	0.697927	0.68747	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.33	2.26	0.27418	0.700000	0.25278	-0.056000	0.12484	0.599000	0.40250	0.868000	0.30757	0.063000	0.22074	0.773000	0.36634	0.0:0.7242:0.0:0.2758	7.254	0.25343	25	0.98345	Formin, FH2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009063	0.000000	0.001359	0.005848	0.000000	0.000000	0.006098	0.030303	0.02632	2440.33	34	chr16	67230180	.	C	A	2440.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.56;DP=789;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.44;ReadPosRankSum=0.291;SOR=0.666	GT:AD:DP:GQ:PL	0/1:82,87:169:99:2454,0,2165	18	0	1	0
chr16	67978581	67978581	C	T	exonic	DPEP3	.	nonsynonymous SNV	DPEP3:NM_001129758:exon3:c.G460A:p.V154M,DPEP3:NM_001370198:exon3:c.G460A:p.V154M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.0178604427351	.	0.000199681	4.944e-05	0	8.637e-05	0.0001	0	4.498e-05	0	6.056e-05	5.17e-05	8	154602	rs200103050	4.378e-05	4.378e-05	3.948e-05	4.813e-05	6.708e-05	3.509e-05	3.193e-05	3.89e-05	3.491e-05	0	6.708e-05	0	2.519e-05	0	0	4.946e-05	4.969e-05	2.319e-05	2.629e-05	2.625e-05	2.572e-05	2.689e-05	0.0001	8.14e-06	5.14e-06	2.261e-05	9.07e-06	0	0	0.0001	0	0	0	0	2.941e-05	0	0	0.001	0.78490	D	0.002	0.79402	D	.	.	.	.	.	.	0.108418	0.19528	N	0.504256	0.669522	0.33129	D	.	.	.	1.85	0.24472	T	-2.08	0.47514	N	0.195	0.21449	-0.8065	0.54760	T	0.154	0.48498	T	10	0.10832426	0.20160	T	0.01786	0.39721	T	0.121	0.33580	.	.	0.117506650769	0.11410	0.29522186692647284	0.29435	0.412704439165	0.42005	0.364369094372	0.20021	T	.	.	.	-0.283149	0.10336	T	-0.464204	0.26144	T	0.920640170574188	0.57990	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.273889	0.29066	18.00	0.99120397909504387	0.52985	0.11406	0.16613	N	AEFBI	0.095098	0.19219	N	0.00824023250414946	0.42228	2.540519	-0.288924830613787	0.28462	1.587169	4.07104299074968E-4	0.06860	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	4.88	-1.47	0.08312	0.525000	0.22664	-0.823000	0.07287	0.599000	0.40250	0.089000	0.22556	0.000000	0.08366	0.500000	0.29017	0.1592:0.4455:0.219:0.1763	2.159	0.03586	10	0.99061	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.02632	1479.33	34	chr16	67978581	.	C	T	1479.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.035;DP=799;ExcessHet=0;FS=6.036;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.45;ReadPosRankSum=-0.907;SOR=1.278	GT:AD:DP:GQ:PL	0/1:52,58:110:99:1493,0,1318	18	0	1	0
chr16	71963257	71963258	CA	-	exonic	PKD1L3	.	stopgain	PKD1L3:NM_181536:exon16:c.2559_2560del:p.C853*	.	440	1061	20	1	0	22	0.0102612	.	.	.	3546956	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0060	0.00199681	0.0033	0.0023	0.0024	0	0	0.0057	0.0083	0.0018	0.0006147	16	26028	rs528199822	0.0031	0.0029	0.0030	0.0031	0.0214	0.0030	0.0030	0.0183	0.0172	0.0010	0.0038	0.0118	2.799e-05	0.0002	0.0214	0.0031	0.0042	0.0018	0.0031	0.0031	0.0033	0.0029	0.0053	0.0029	0.0028	0.0044	0.0040	0.0010	0.0175	0.0053	0.0153	0.0002	0	0.0136	0.0037	0.0038	0.0033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018248	0.036842	0.022727	0.026087	0.000000	0.000000	0.011628	0.000000	0.02632	1230.29	33	chr16	71963256	.	TCA	T	1230.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.616;DP=695;ExcessHet=0;FS=1.892;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.38;ReadPosRankSum=-0.176;SOR=0.96	GT:AD:DP:GQ:PL	0/1:47,33:80:99:1244,0,1874	18	0	1	0
chr16	75715056	75715056	G	T	exonic	CPHXL	.	nonsynonymous SNV	CPHXL:NM_001355613:exon3:c.C386A:p.A129D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13043222	0.24822	T	.	.	.	.	.	.	.	.	.	0.0950128666906301	0.09433	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39666	0.09990	T	.	.	.	.	.	.	.	.	-3.236	0.12926	T	.	.	0.258	0.49304	B	.	.	0.853054	0.12254	8.795	0.73034086536527587	0.10183	0.02539	0.07057	N	AEFBI	.	.	.	.	.	.	.	.	.	0.00113333913213609	0.08261	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.046875	0.06002	1.68	1.68	0.23219	0.362000	0.20020	0.337000	0.17343	0.368000	0.20244	0.060000	0.21767	0.030000	0.21233	0.015000	0.10482	0.0:0.0:1.0:0.0	6.808	0.22970	656	0.62345	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	37.76	.	chr16	75715056	.	G	T	37.76	.	AC=2;AF=0.1;AN=20;DP=22;ExcessHet=0;FS=0;InbreedingCoeff=0.3159;MLEAC=2;MLEAF=0.1;MQ=60;QD=18.88;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	9	1	0	9
chr16	81171050	81171050	G	C	exonic	PKD1L2	.	nonsynonymous SNV	PKD1L2:NM_001278423:exon6:c.C748G:p.L250V,PKD1L2:NM_001076780:exon17:c.C2803G:p.L935V	.	421	1099	2	0	0	2	0.000909091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.0126038279376	.	0.00159744	0.0013	0	8.675e-05	0	0	3.012e-05	0.0011	0.0091	0.0010996	170	154602	rs201282019	0.0006	0.0006	0.0003	0.0008	0.0092	0.0005	0.0005	0.0087	0.0085	0	0	0	0	0	0.0005	6.295e-06	0.0005	0.0092	0.0002	0.0002	6.426e-05	0.0004	0.0066	0.0002	0.0001	0.0048	0.0042	0	0	0	0	0	0	0	0	0	0.0066	.	.	.	.	.	.	1.0	0.90584	D	0.997	0.86255	D	0.003060	0.35512	N	0.215534	0.993145	0.23764	N	.	.	.	1.94	0.22678	T	-1.55	0.37955	N	0.621	0.63628	-0.9873	0.33273	T	0.131	0.44228	T	9	0.008598238	0.00195	T	0.012604	0.31316	T	0.072	0.21020	.	.	0.264547087235	0.26054	.	.	.	.	0.325211524963	0.14209	T	.	.	.	-0.374649	0.03365	T	-0.3034	0.44364	T	0.202192527298391	0.20536	T	0.570643	0.20320	T	.	.	.	.	.	.	.	.	-4.962	0.36425	T	.	.	0.163	0.35910	B	.;.	.;.	2.108627	0.26836	17.25	0.99700711325038971	0.80591	0.52991	0.29264	D	AEFDBHCI	0.225571	0.34964	N	-0.0308405849302156	0.40463	2.403317	-0.0714249464214148	0.36577	2.130418	0.999850251423176	0.44174	0.378192	0.05888	3	0.573888	0.26702	0	0.260811	0.05139	3	0.530356	0.10902	0	.	.	4.42	4.42	0.52775	3.185000	0.50635	2.288000	0.31941	0.665000	0.62972	0.997000	0.40164	0.995000	0.32472	0.041000	0.14368	0.0:0.0:1.0:0.0	14.316	0.66006	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	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	952.33	52	chr16	81171050	.	G	C	952.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.655;DP=825;ExcessHet=0;FS=2.903;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.47;ReadPosRankSum=0.151;SOR=0.441	GT:AD:DP:GQ:PL	0/1:44,39:83:99:966,0,1186	18	0	1	0
chr16	84016654	84016654	C	G	exonic	SLC38A8	.	nonsynonymous SNV	SLC38A8:NM_001080442:exon9:c.G1027C:p.G343R	Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis, Autosomal recessive	412	1066	43	1	0	45	0.0206706	.	.	.	715113	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.123	.	0.0015	0.00339457	0.0035	0.0004	0.0014	0	0.0002	0.0022	0.0045	0.0153	0.0030595	473	154602	rs113733057	0.0021	0.0021	0.0017	0.0026	0.0156	0.0021	0.0021	0.0143	0.0140	0.0004	0.0022	0.0243	0	1.885e-05	0.0156	0.0007	0.0039	0.0150	0.0020	0.0020	0.0018	0.0022	0.0124	0.0018	0.0018	0.0099	0.0090	0.0002	0	0.0039	0.0277	0	0	0.0068	0.0011	0.0033	0.0124	0.734	0.03764	T	0.857	0.03438	T	0.996	0.68779	D	0.843	0.60313	P	0.000626	0.42799	D	0.230494	0.976678	0.39297	D	1.26	0.31868	L	4.44	0.02139	T	0.88	0.01664	N	0.37	0.41162	-0.7667	0.57038	T	0.015	0.05801	T	10	0.0037727654	0.00070	T	.	.	.	0.123	0.34020	0.66	0.79791	0.218845423259	0.21516	0.8221951370456168	0.82176	.	.	0.434606850147	0.29839	T	0.016134	0.13395	T	-0.520904	0.00435	T	-0.508045	0.21517	T	0.0975460260413821	0.12084	T	0.794521	0.43681	T	0.12277327	0.28842	0.13418183	0.32159	0.14010163	0.32336	0.115680836	0.27924	-4.401	0.29571	T	0.19463165127106835	0.25652	0.128	0.27222	B	.	.	1.995967	0.25356	16.73	0.38185314514478214	0.02560	0.87881	0.47576	D	AEFDBI	0.629820	0.61140	D	0.123578966064112	0.47564	2.980404	0.0727503778097324	0.43184	2.625443	0.999998857313412	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.36	4.36	0.51643	2.625000	0.46117	1.737000	0.28371	0.535000	0.24933	0.062000	0.21832	0.265000	0.24010	0.035000	0.13729	0.0:1.0:0.0:0.0	13.809	0.62741	940	0.13648	Amino acid transporter, transmembrane domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.011111	0.000000	0.013587	0.023529	0.000000	0.000000	0.009202	0.011364	0.05263	3864.81	41	chr16	84016654	.	C	G	3864.81	.	AC=2;AF=0.053;AN=38;DP=769;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.19;SOR=1.051	GT:AD:DP:GQ:PL	1/1:0,128:128:99:3892,384,0	18	1	0	0
chr16	84486844	84486844	G	C	exonic	MEAK7	.	nonsynonymous SNV	MEAK7:NM_020947:exon5:c.C745G:p.L249V	.	429	1074	18	1	0	20	0.00922509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.157	0.00571231568794	0.0019	0.00119808	0.0021	0.0009	0.0011	0.0001	0.0017	0.0027	0.0011	0.0027	0.0021022	325	154602	rs148673734	0.0024	0.0024	0.0024	0.0024	0.0040	0.0023	0.0023	0.0027	0.0026	0.0004	0.0012	0.0048	2.519e-05	0.0025	0.0040	0.0025	0.0023	0.0030	0.0020	0.0020	0.0021	0.0019	0.0032	0.0018	0.0017	0.0028	0.0027	0.0006	0	0.0005	0.0055	0	0.0014	0.0068	0.0032	0.0005	0.0031	0.218	0.19090	T	0.277	0.21880	T	0.073	0.24078	B	0.048	0.24975	B	0.000054	0.53742	D	0.167640	0.950683	0.26496	N	2.52	0.73523	M	3.13	0.08014	T	-0.16	0.09460	N	0.268	0.30347	-1.0956	0.04667	T	0.048	0.20434	T	10	0.00836581	0.00190	T	0.005712	0.14802	T	0.157	0.40909	.	.	0.0986583533028	0.09354	0.3022918609357974	0.30142	0.00220502495395	0.00188	0.317984044552	0.13115	T	0.002991	0.02391	T	-0.4794	0.00745	T	-0.463507	0.26218	T	0.0766307343499294	0.09551	T	0.729327	0.34443	T	0.09214469	0.21610	0.06602934	0.13469	0.09214469	0.21610	0.06602934	0.13468	-4.586	0.31995	T	.	.	0.121	0.25199	B	.	.	1.472126	0.18960	14.02	0.95153600594172327	0.26290	0.96587	0.69889	D	AEFDGBHCI	0.541218	0.55746	D	-0.175467469418145	0.34158	1.946336	-0.215073229051886	0.30993	1.750042	0.999999090171992	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.630245	0.45026	0	0.714379	0.83352	0	.	.	5.32	4.36	0.51643	7.202000	0.77370	6.412000	0.55597	0.676000	0.76740	1.000000	0.71638	0.999000	0.35428	0.019000	0.11356	0.0773:0.0:0.9227:0.0	13.079	0.58517	982	0.03397	TLDc domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.001359	0.011696	0.000000	0.000000	0.000000	0.007576	0.05263	4391.81	159	chr16	84486844	.	G	C	4391.81	.	AC=2;AF=0.053;AN=38;DP=2616;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.82;SOR=0.783	GT:AD:DP:GQ:PL	1/1:0,138:138:99:4419,415,0	18	1	0	0
chr16	89920090	89920090	A	G	exonic	MC1R	.	nonsynonymous SNV	MC1R:NM_002386:exon1:c.A832G:p.K278E	.	0	1517	5	0	0	5	0.00164528	.	.	.	401957	Increased_analgesia_from_kappa-opioid_receptor_agonist,_female-specific|Melanoma,_cutaneous_malignant,_susceptibility_to,_5	MedGen:C2751296,OMIM:613098|MONDO:MONDO:0013133,MedGen:C2751295,OMIM:613099,Orphanet:618	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.074	0.0134675470302	0.0002	.	0.0003	0	0.0003	0	0.0002	0.0004	0	0.0006	0.0002717	42	154602	rs201171524	0.0003	0.0003	0.0003	0.0003	0.0024	0.0003	0.0003	0.0015	0.0012	5.974e-05	0.0004	0.0003	0	0.0003	0.0024	0.0003	0.0004	0.0005	0.0002	0.0002	0.0003	0.0002	0.0004	0.0002	0.0001	0.0003	0.0002	4.827e-05	0	0.0001	0	0	0.0005	0	0.0004	0	0	0.0	0.91255	D	0.154	0.63918	T	0.63	0.40197	P	0.314	0.41528	B	0.724211	0.09909	U	0.793754	0.988626	0.24389	N	1.61	0.41143	L	1.21	0.37230	T	-0.84	0.22944	N	0.186	0.21839	-1.0280	0.21103	T	0.072	0.29130	T	9	0.045355886	0.03597	T	0.013468	0.32898	T	0.074	0.21613	.	.	0.644729278666	0.64179	0.47160602733941437	0.47079	0.0600045241563	0.06676	.	.	.	0.107707	0.42013	T	-0.438843	0.01314	T	-0.475949	0.24878	T	0.0681616055686901	0.08391	T	0.849815	0.53298	T	0.2961384	0.52556	0.16556355	0.38295	0.2961384	0.52556	0.16556355	0.38295	-3.304	0.13789	T	0.13894560392902006	0.15417	0.154	0.34645	B	.;.;.;.	.;.;.;.	2.363585	0.30321	18.40	0.99671870894711823	0.78652	0.17927	0.20047	N	AEFDBCI	0.274066	0.38933	N	-0.422285117223128	0.24689	1.334925	-0.443849597376789	0.23723	1.295252	0.999998838385907	0.74766	0.660377	0.49826	0	0.659912	0.62753	0	0.654045	0.52621	0	0.592323	0.36904	0	.	.	5.27	-0.119	0.12883	-0.028000	0.12299	2.029000	0.30245	0.756000	0.94297	0.032000	0.20554	0.999000	0.35428	0.971000	0.54645	0.3844:0.5131:0.0:0.1025	9.929	0.40679	616	0.66398	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.002717	0.005848	0.000000	0.000000	0.000000	0.000000	0.05263	8678.81	42	chr16	89920090	.	A	G	8678.81	.	AC=2;AF=0.053;AN=38;DP=990;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=29.62;SOR=0.756	GT:AD:DP:GQ:PL	1/1:0,293:293:99:8706,878,0	18	1	0	0
chr17	413815	413815	C	0	exonic	C17orf97	.	.	.	.	492	947	19	0	64	83	0.00993204	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08824	3645.09	35	chr17	413815	.	C	*	3645.09	.	AC=3;AF=0.088;AN=34;BaseQRankSum=-1.819;DP=806;ExcessHet=2.0973;FS=0.825;InbreedingCoeff=-0.1014;MLEAC=3;MLEAF=0.088;MQ=51.13;MQRankSum=-3.114;QD=9.99;ReadPosRankSum=-0.989;SOR=0.635	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:5,38:43:88:.:.:925,0,88:.	14	0	3	2
chr17	413822	413822	C	0	exonic	C17orf97	.	.	.	.	509	931	17	0	65	82	0.00904737	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08824	3979.26	37	chr17	413822	.	C	*	3979.26	.	AC=3;AF=0.088;AN=34;BaseQRankSum=-0.523;DP=846;ExcessHet=5.777;FS=0.384;InbreedingCoeff=-0.2941;MLEAC=3;MLEAF=0.088;MQ=50.36;MQRankSum=-3.06;QD=10.42;ReadPosRankSum=-1.422;SOR=0.732	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:5,38:43:88:.:.:925,0,88:.	14	0	3	2
chr17	413824	413824	C	0	exonic	C17orf97	.	.	.	.	487	954	61	4	16	85	0.0349014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08824	3875.26	35	chr17	413824	.	C	*	3875.26	.	AC=3;AF=0.088;AN=34;BaseQRankSum=0.335;DP=838;ExcessHet=5.777;FS=0;InbreedingCoeff=-0.2941;MLEAC=3;MLEAF=0.088;MQ=49.98;MQRankSum=-2.422;QD=10.01;ReadPosRankSum=-1.376;SOR=0.677	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:5,38:43:88:.:.:925,0,88:.	14	0	3	2
chr17	413831	413831	A	0	exonic	C17orf97	.	.	.	.	725	697	61	4	35	104	0.0471634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	3502.03	35	chr17	413831	.	A	*	3502.03	.	AC=3;AF=0.1;AN=30;BaseQRankSum=-0.862;DP=878;ExcessHet=5.0413;FS=1.291;InbreedingCoeff=-0.1846;MLEAC=4;MLEAF=0.133;MQ=49.37;MQRankSum=-2.859;QD=9.73;ReadPosRankSum=-2.316;SOR=0.622	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:5,38:43:88:.:.:925,0,88:.	12	0	3	4
chr17	3592313	3592313	G	A	exonic	TRPV1	.	nonsynonymous SNV	TRPV1:NM_080706:exon1:c.C38T:p.A13V,TRPV1:NM_018727:exon2:c.C38T:p.A13V,TRPV1:NM_080705:exon2:c.C38T:p.A13V,TRPV1:NM_080704:exon3:c.C38T:p.A13V	.	403	1113	5	1	0	7	0.0031348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.236	0.125244798646	0.0011	0.000798722	0.0012	0.0024	0.0018	0	0.0004	0.0015	0.0062	9.246e-05	0.0007633	118	154602	rs200164496	0.0008	0.0008	0.0008	0.0008	0.0054	0.0007	0.0007	0.0039	0.0034	0.0013	0.0013	3.887e-05	7.675e-05	0.0001	0.0054	0.0008	0.0016	5.942e-05	0.0010	0.0010	0.0010	0.0010	0.0022	0.0008	0.0008	0.0016	0.0014	0.0013	0	0.0022	0	0	9.413e-05	0	0.0007	0.0024	0.0004	0.036	0.52492	D	0.121	0.36101	T	0.057	0.38231	B	0.002	0.20792	B	0.376835	0.13446	N	0.708802	1	0.18612	N	0.345	0.11182	N	-2.39	0.88377	D	-0.7	0.23156	N	0.077	0.09349	-0.6167	0.64126	T	0.348	0.71233	T	10	0.006970763	0.00158	T	0.125245	0.80673	D	0.236	0.53931	.	.	0.271763555656	0.26798	0.13979746884530675	0.13902	0.0680820293278	0.07622	0.264905869961	0.05489	T	0.269293	0.64148	T	-0.374833	0.03357	T	-0.351732	0.39008	T	0.00108602810552265	0.00010	T	0.535446	0.17943	T	0.034376018	0.03846	0.037127137	0.03300	0.034376018	0.03846	0.037127137	0.03299	-4.262	0.27641	T	.	.	0.075	0.14247	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.162210	0.05527	1.987	0.76431502026006071	0.11465	0.01855	0.05732	N	AEFDBI	0.034360	0.04242	N	-1.5033992782936	0.01828	0.08011762	-1.48157129497796	0.02496	0.1148705	6.69118265653116E-4	0.07575	0.646311	0.45356	0	0.633656	0.55848	0	0.645312	0.48771	0	0.655142	0.61905	0	.	.	5.19	0.443	0.15798	-0.394000	0.07357	0.491000	0.18902	-2.797000	0.00186	0.000000	0.06391	0.006000	0.19429	0.000000	0.00833	0.2955:0.086:0.1791:0.4395	1.264	0.01885	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	0.014602	0.040404	0.025815	0.005848	0.000000	0.000000	0.003049	0.003788	0.05263	4325.81	33	chr17	3592313	.	G	A	4325.81	.	AC=2;AF=0.053;AN=38;DP=774;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=33.8;SOR=0.895	GT:AD:DP:GQ:PL	1/1:0,128:128:99:4353,384,0	18	1	0	0
chr17	3592324	3592324	C	G	exonic	TRPV1	.	nonsynonymous SNV	TRPV1:NM_080706:exon1:c.G27C:p.L9F,TRPV1:NM_018727:exon2:c.G27C:p.L9F,TRPV1:NM_080705:exon2:c.G27C:p.L9F,TRPV1:NM_080704:exon3:c.G27C:p.L9F	.	401	1116	4	1	0	6	0.00268097	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.202	0.105454324509	0.0013	0.00159744	0.0020	0.0069	0.0025	0	0.0004	0.0021	0.0045	9.486e-05	0.0010802	167	154602	rs146598604	0.0008	0.0008	0.0008	0.0008	0.0060	0.0008	0.0008	0.0044	0.0039	0.0043	0.0014	0.0057	5.133e-05	0.0001	0.0060	0.0006	0.0020	7.146e-05	0.0019	0.0019	0.0019	0.0020	0.0042	0.0017	0.0017	0.0037	0.0035	0.0042	0	0.0024	0.0081	0	9.42e-05	0	0.0006	0.0024	0.0002	0.187	0.21385	T	0.157	0.31730	T	0.21	0.29968	B	0.125	0.32635	B	0.017854	0.01475	N	2.325170	1	0.08975	N	0.55	0.14455	N	-2.4	0.88533	D	-0.34	0.14782	N	0.058	0.11912	-0.5345	0.67371	T	0.373	0.73213	T	10	0.003916204	0.00075	T	0.105454	0.78057	D	0.202	0.48754	0.061	0.00225	0.239305524855	0.23518	0.0785766688435	0.07792	0.0684681097478	0.07664	0.301225244999	0.10583	T	0.268259	0.64036	T	-0.462044	0.00955	T	-0.436478	0.29202	T	0.00968678085319048	0.00126	T	0.575442	0.20674	T	0.033387255	0.03547	0.034694582	0.02582	0.033387255	0.03546	0.034694582	0.02582	-5.121	0.38128	T	.	.	0.063	0.05756	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-1.623986	0.00228	0.003	0.82932183870476561	0.14452	0.05411	0.11281	N	AEFDBI	0.093276	0.18874	N	-1.67011620784549	0.00953	0.04129012	-1.80125414971469	0.00755	0.03366513	0.989464000909193	0.31835	0.646311	0.45356	0	0.633656	0.55848	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	5.19	-9.37	0.00530	-2.013000	0.01538	-2.717000	0.03435	-0.193000	0.09282	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.1061:0.6029:0.0:0.291	10.361	0.43179	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	0.016616	0.040404	0.027174	0.008772	0.000000	0.000000	0.006098	0.000000	0.05263	3759.81	33	chr17	3592324	.	C	G	3759.81	.	AC=2;AF=0.053;AN=38;DP=764;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=33.57;SOR=0.884	GT:AD:DP:GQ:PL	1/1:0,112:112:99:3787,336,0	18	1	0	0
chr17	4739332	4739332	C	G	exonic	CXCL16	.	nonsynonymous SNV	CXCL16:NM_001100812:exon1:c.G65C:p.R22P,CXCL16:NM_022059:exon1:c.G65C:p.R22P	.	402	1067	50	3	0	56	0.0255708	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	.	0.0075	0.0071885	0.0108	0.0091	0.0043	0	0.0038	0.0122	0.0081	0.0190	0.0086868	1343	154602	rs151229852	0.0084	0.0084	0.0081	0.0087	0.0234	0.0083	0.0082	0.0202	0.0189	0.0081	0.0033	0.0143	0	0.0024	0.0234	0.0082	0.0090	0.0186	0.0076	0.0076	0.0080	0.0071	0.0155	0.0072	0.0070	0.0127	0.0117	0.0077	0	0.0049	0.0110	0.0004	0.0032	0.0068	0.0086	0.0090	0.0155	0.029	0.45756	D	0.08	0.41913	T	.	.	.	.	.	.	0.001331	0.00770	N	4.572020	1	0.08975	N	.	.	.	1.28	0.35960	T	-1.45	0.35597	N	0.039	0.01274	-1.0551	0.13013	T	0.035	0.15074	T	10	0.0037389696	0.00069	T	.	.	.	0.039	0.10176	.	.	0.0986583533028	0.09354	0.16216044450475545	0.16136	0.250793124165	0.27656	0.316248208284	0.12852	T	.	.	.	-0.595028	0.00156	T	-0.613213	0.11725	T	0.0047942137709534	0.00051	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.23535	B	.;.	.;.	-0.849950	0.01012	0.042	0.70513484036691765	0.09320	0.02421	0.06840	N	AEFDGBHCI	0.172192	0.29921	N	-1.71474974148589	0.00791	0.03416454	-1.82558825961908	0.00680	0.03028378	0.999999988637891	0.74766	0.652421	0.48094	0	0.609123	0.50646	0	0.64067	0.45733	0	0.604282	0.37693	0	.	.	3.32	-5.98	0.02034	-3.068000	0.00682	-6.206000	0.01465	-3.178000	0.00113	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1343:0.3843:0.1202:0.3613	1.972	0.03200	494	0.76445	.;.	.	.	.	.	rs151229852	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.020222	0.000000	0.020380	0.029240	0.050000	0.034483	0.027778	0.007576	0.05263	1092.83	39	chr17	4739332	.	C	G	1092.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.878;DP=719;ExcessHet=0.119;FS=1.509;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=9.5;ReadPosRankSum=1.36;SOR=0.915	GT:AD:DP:GQ:PL	0/1:40,19:59:99:396,0,961	17	0	2	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6944	5800.48	202	chr17	4933907	.	ACCACCCCAGAGCCCAC	*	5800.48	.	AC=25;AF=0.694;AN=36;DP=3235;ExcessHet=0.004;FS=0;InbreedingCoeff=0.5476;MLEAC=26;MLEAF=0.722;MQ=59.7;MQRankSum=-0.138;QD=3.33;SOR=0.877	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:21,25:46:99:0|1:4933876_GGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCA_G:913,0,521:4933876	3	10	5	1
chr17	4933915	4933915	A	0	exonic	GP1BA	.	.	.	Bernard-Soulier syndrome, type A1 (recessive), Autosomal recessive;Bernard-Soulier syndrome, type A2 (dominant), Autosomal dominant;von Willebrand disease, platelet-type, Autosomal dominant	1045	137	36	84	220	424	0.426778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7941	2221.85	202	chr17	4933915	.	A	*	2221.85	.	AC=27;AF=0.794;AN=34;BaseQRankSum=1.15;DP=3213;ExcessHet=0.1688;FS=0;InbreedingCoeff=0.103;MLEAC=29;MLEAF=0.853;MQ=59.38;MQRankSum=-0.322;QD=1.2;ReadPosRankSum=2.42;SOR=0.937	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:1,25:46:99:1|0:4933876_GGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCA_G:3630,745,534:4933876	1	11	5	2
chr17	7038641	7038641	G	T	exonic	SLC16A13	.	nonsynonymous SNV	SLC16A13:NM_201566:exon3:c.G833T:p.G278V	.	424	1085	11	2	0	15	0.00686499	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.162	0.00825575818824	0.0002	0.00179712	0.0011	0.0002	0.0002	0	0	0.0003	0	0.0065	0.0009638	149	154602	rs184174774	0.0005	0.0005	0.0003	0.0007	0.0062	0.0004	0.0004	0.0058	0.0056	0	0	0.0002	0	1.872e-05	0.0035	8.993e-05	0.0005	0.0062	0.0002	0.0002	0.0002	0.0003	0.0041	0.0002	0.0001	0.0027	0.0023	4.812e-05	0	0	0.0003	0	0	0	0.0001	0	0.0041	0.671	0.04548	T	0.501	0.11153	T	0.025	0.19245	B	0.012	0.16012	B	0.042677	0.23818	N	0.475889	0.99998	0.54805	D	1.08	0.27187	L	-0.06	0.63568	T	0.33	0.03889	N	0.328	0.36884	-1.0683	0.09791	T	0.017	0.07092	T	10	0.0048539937	0.00103	T	0.008256	0.21878	T	0.162	0.41843	.	.	0.413241256734	0.40943	0.5010361464040538	0.50025	0.368163603029	0.38376	0.401091575623	0.25220	T	0.007882	0.07256	T	-0.335478	0.05708	T	-0.252055	0.49613	T	0.0296607524246181	0.01938	T	0.688231	0.29741	T	0.19471332	0.41231	0.18879253	0.42190	0.19471332	0.41231	0.18879253	0.42189	-0.662	0.00693	T	.	.	0.115	0.23005	B	.	.	2.742183	0.35919	20.1	0.88819230020886974	0.18281	0.25863	0.22825	N	AEFDBCI	0.537821	0.55547	D	-0.27498234780677	0.30118	1.676391	-0.0972934918708493	0.35501	2.054705	0.999999993393148	0.74766	0.722319	0.85440	0	0.627608	0.54475	0	0.779548	0.98927	0	0.735409	0.98432	0	.	.	5.59	5.59	0.84677	2.762000	0.47278	11.810000	0.96908	0.676000	0.76740	0.160000	0.23797	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	17.086	0.86487	754	0.51307	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	0.002014	0.005051	0.001359	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	2599.33	37	chr17	7038641	.	G	T	2599.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.533;DP=912;ExcessHet=0;FS=3.409;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.47;ReadPosRankSum=-0.522;SOR=0.479	GT:AD:DP:GQ:PL	0/1:100,93:193:99:2613,0,2866	18	0	1	0
chr17	7222244	7222244	G	A	exonic	ACADVL	.	nonsynonymous SNV	ACADVL:NM_001033859:exon8:c.G754A:p.A252T,ACADVL:NM_001270448:exon8:c.G592A:p.A198T,ACADVL:NM_000018:exon9:c.G820A:p.A274T,ACADVL:NM_001270447:exon10:c.G889A:p.A297T	VLCAD deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.183	0.029421313853	.	.	8.244e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs771624063	4.788e-06	4.788e-06	4.084e-06	5.5e-06	4.637e-05	1.99e-06	1.28e-06	1.583e-05	9.3e-06	0	0	0	0	0	0	2.698e-06	0	4.637e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	0.09600	T	0.461	0.13030	T	0.001	0.07471	B	0.0	0.04355	B	0.005353	0.32875	N	0.320415	0.866116	0.31254	N	0.22	0.09567	N	-4.14	0.96772	D	-0.09	0.08340	N	0.196	0.21710	-0.1171	0.79702	T	0.674	0.88696	D	10	0.10048807	0.18304	T	0.029421	0.51930	D	0.183	0.45592	0.267	0.21418	0.788040571525	0.78607	0.33426175811547026	0.33339	0.187689691387	0.21090	0.265026569366	0.05504	T	0.44898	0.79065	T	-0.159861	0.26781	T	-0.285878	0.46198	T	0.0349433848292804	0.02798	T	0.792821	0.45852	T	0.11649607	0.27476	0.07923589	0.17819	0.11649607	0.27476	0.07923589	0.17818	-5.703	0.45682	T	.	.	0.060	0.01408	B	.;.;.	.;.;.	0.407392	0.07786	4.472	0.82954987815637737	0.14464	0.39866	0.26309	N	AEFDBHCI	0.384648	0.46569	N	-1.12850142315397	0.06141	0.2818927	-1.08960709635725	0.07903	0.386368	0.999997417691111	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.22	0.396	0.15532	1.046000	0.29964	0.170000	0.15507	-0.244000	0.07312	0.032000	0.20554	0.000000	0.08366	0.299000	0.24476	0.3089:0.0:0.6911:0.0	9.266	0.36804	381	0.83684	.;Acyl-CoA oxidase/dehydrogenase, central domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1126.33	37	chr17	7222244	.	G	A	1126.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.199;DP=759;ExcessHet=0;FS=4.614;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.41;ReadPosRankSum=1.38;SOR=0.312	GT:AD:DP:GQ:PL	0/1:40,44:84:99:1140,0,1232	18	0	1	0
chr17	7849163	7849165	AAG	-	exonic	KDM6B	.	nonframeshift deletion	KDM6B:NM_001080424:exon11:c.2875_2877del:p.K959del,KDM6B:NM_001348716:exon11:c.2875_2877del:p.K959del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.813e-05	0	0	0.0010	0	2.053e-05	0	0	5.17e-05	8	154602	rs752737688	3.496e-05	3.489e-05	2.455e-05	4.548e-05	0.0012	2.702e-05	2.443e-05	0.0009	0.0008	2.99e-05	0	0	0.0012	0	0	2.7e-06	1.66e-05	0	6.57e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2003.29	33	chr17	7849162	.	CAAG	C	2003.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.842;DP=767;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.64;ReadPosRankSum=-1.005;SOR=0.685	GT:AD:DP:GQ:PL	0/1:48,54:102:99:2017,0,1832	18	0	1	0
chr17	8268959	8268959	G	T	exonic	PFAS	.	nonsynonymous SNV	PFAS:NM_012393:exon28:c.G3712T:p.V1238L	.	411	1089	21	1	0	23	0.0104498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.0120835770714	0.0009	0.000599042	0.0018	0	0.0019	0	0	0.0011	0.0011	0.0072	0.0014683	227	154602	rs145272400	0.0010	0.0010	0.0008	0.0012	0.0113	0.0009	0.0009	0.0091	0.0083	0.0002	0.0018	0.0096	0	0	0.0113	0.0003	0.0016	0.0070	0.0007	0.0007	0.0005	0.0008	0.0039	0.0006	0.0005	0.0026	0.0021	7.214e-05	0	0.0006	0.0095	0	0	0.0102	0.0004	0.0033	0.0039	0.577	0.06049	T	0.617	0.07518	T	0.001	0.07471	B	0.002	0.06944	B	0.000001	0.62929	D	0.093571	1	0.81001	D	0.345	0.11182	N	2.31	0.16794	T	0.08	0.06026	N	0.202	0.22357	-1.1026	0.03790	T	0.050	0.21339	T	10	0.007105112	0.00162	T	0.012084	0.30328	T	0.091	0.26358	0.637	0.77361	0.667579167303	0.66477	0.5864208428682829	0.58572	0.224318780374	0.24958	0.464102327824	0.33872	T	0.089594	0.38406	T	-0.566955	0.00231	T	-0.583861	0.14202	T	0.00370669600934679	0.00039	T	0.934707	0.75503	D	0.06463443	0.13734	0.069156714	0.14534	0.06463443	0.13733	0.069156714	0.14534	-3.489	0.16278	T	.	.	0.122	0.25429	B	.	.	1.351416	0.17589	13.25	0.60401719347904825	0.06454	0.89276	0.49643	D	AEFDBI	0.384551	0.46563	N	-0.540449663992957	0.20784	1.098247	-0.389717537221014	0.25301	1.39064	0.31468514665544	0.19323	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.48	4.34	0.51267	2.611000	0.45998	8.102000	0.76560	-0.116000	0.14526	1.000000	0.71638	1.000000	0.68203	0.350000	0.25659	0.9143:0.0:0.0857:0.0	9.448	0.37873	507	0.75469	Glutamine amidotransferase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2080.33	36	chr17	8268959	.	G	T	2080.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.67;DP=856;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.25;ReadPosRankSum=1.64;SOR=0.718	GT:AD:DP:GQ:PL	0/1:76,81:157:99:2094,0,1758	18	0	1	0
chr17	9608191	9608191	T	C	exonic	CFAP52	.	nonsynonymous SNV	CFAP52:NM_001080556:exon6:c.T622C:p.C208R,CFAP52:NM_145054:exon7:c.T826C:p.C276R	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.427	0.27158512124	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs779089512	6.852e-07	6.84e-07	0	1.377e-06	9.004e-07	0	0	.	.	0	0	0	0	0	0	9.004e-07	0	0	6.572e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.089	0.32141	T	0.062	0.45318	T	0.895	0.49247	P	0.474	0.46883	P	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-2.58	0.89757	D	-3.7	0.71276	D	0.9	0.90025	0.430	0.89541	D	0.667	0.88460	D	10	0.95042	0.94377	D	0.271585	0.89899	D	0.427	0.73445	0.788	0.91068	0.728798078922	0.72639	0.8626854486684278	0.86232	0.349758134559	0.36824	0.72649949789	0.70995	T	0.226127	0.59106	T	0.391603	0.89423	D	0.324734	0.89290	D	0.986552178859711	0.77243	D	0.692831	0.30243	T	0.7803619	0.82676	0.73778266	0.84502	0.7803619	0.82677	0.73778266	0.84503	-11.076	0.80073	D	.	.	0.795	0.81070	P	.;.	.;.	3.991804	0.58755	24.0	0.9947476764866775	0.66525	0.92524	0.55913	D	AEFI	0.735291	0.68115	D	0.46251674620387	0.64917	4.757327	0.511963535612072	0.68792	5.269485	0.818497642452698	0.24481	0.500041	0.20204	0	0.573888	0.26702	0	0.624306	0.44879	0	0.564101	0.26826	0	.	.	5.42	5.42	0.78666	5.682000	0.67845	7.743000	0.68032	0.659000	0.54702	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.0:0.0:1.0	14.734	0.69020	906	0.23090	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1354.33	39	chr17	9608191	.	T	C	1354.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.121;DP=791;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.85;ReadPosRankSum=-2.538;SOR=0.68	GT:AD:DP:GQ:PL	0/1:88,65:153:99:1368,0,2184	18	0	1	0
chr17	10306941	10306941	C	T	exonic	MYH13	.	nonsynonymous SNV	MYH13:NM_003802:exon36:c.G5293A:p.D1765N	.	.	.	.	.	.	.	.	0.8609	0.798	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.658	0.0797277519347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.022	0.57587	D	0.998	0.73220	D	0.981	0.75168	D	.	.	.	.	0.999765	0.48888	D	3.84	0.95699	H	-1.54	0.81640	D	-3.5	0.68178	D	0.65	0.71321	0.811	0.94553	D	0.763	0.91922	D	9	0.81573963	0.80815	D	0.079728	0.73301	D	0.658	0.87184	0.609	0.74182	0.890167322426	0.88908	0.8197152491594643	0.81928	0.201842738784	0.22596	0.832908153534	0.87009	D	0.483442	0.81116	T	0.0208395	0.54496	T	-0.207842	0.53901	T	0.992041051387787	0.82435	D	0.926607	0.72946	D	0.47615838	0.65667	0.5082755	0.71582	0.47615838	0.65667	0.5082755	0.71583	-11.618	0.82941	D	.	.	0.320	0.54492	B	.;.;.	.;.;.	5.658447	0.92858	33	0.99918735509507872	0.98586	0.99491	0.96677	D	AEFBI	0.949829	0.96286	D	0.888373815946526	0.91179	10.75388	0.76688893553862	0.87413	9.213461	0.999967380440937	0.48965	0.568482	0.32641	0	0.573078	0.20572	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.21	4.21	0.48984	7.866000	0.85474	7.651000	0.63703	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	17.113	0.86558	89	0.96298	Myosin tail;Myosin tail;Myosin tail	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1041.33	33	chr17	10306941	.	C	T	1041.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.018;DP=690;ExcessHet=0;FS=3.638;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.31;ReadPosRankSum=-1.398;SOR=0.346	GT:AD:DP:GQ:PL	0/1:27,41:68:99:1055,0,823	18	0	1	0
chr17	11854426	11854426	G	A	exonic	DNAH9	.	nonsynonymous SNV	DNAH9:NM_001372:exon50:c.G9931A:p.A3311T	.	421	1093	8	0	0	8	0.00364631	0	0.036	.	2231942	not_provided|Inborn_genetic_diseases|DNAH9-related_disorder	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.199	0.0165919456704	0.0002	0.00119808	0.0009	9.897e-05	0.0010	0	0	0.0002	0.0012	0.0057	0.0007438	115	154602	rs139176958	0.0005	0.0005	0.0003	0.0007	0.0053	0.0005	0.0004	0.0049	0.0047	2.996e-05	0.0007	3.873e-05	0	1.876e-05	0.0038	0.0002	0.0005	0.0053	0.0004	0.0004	0.0003	0.0004	0.0054	0.0003	0.0003	0.0038	0.0032	2.408e-05	0	0.0002	0	0.0002	9.457e-05	0.0034	0.0003	0.0009	0.0054	0.426	0.12109	T	0.437	0.13441	T	0.017	0.17573	B	0.022	0.19653	B	0.340874	0.13965	N	0.710500	1	0.08975	N	1.38	0.34346	L	-1.35	0.80035	T	-1.94	0.45042	N	0.144	0.14622	-0.8245	0.53651	T	0.321	0.68969	T	10	0.0053035915	0.00116	T	0.016592	0.37919	T	0.199	0.48268	.	.	0.311691414656	0.30774	0.06991057062677458	0.06929	0.0872234964637	0.09831	0.215966016054	0.01090	T	0.196887	0.67158	T	-0.487925	0.00667	T	-0.472142	0.25286	T	0.0122225140822567	0.00197	T	0.80032	0.44603	T	0.042935245	0.06603	0.07626091	0.16872	0.043369338	0.06745	0.08129773	0.18463	-6.04	0.46613	T	.	.	0.068	0.02639	B	.;.;.	.;.;.	0.320326	0.06949	3.496	0.91704226793336741	0.20998	0.09032	0.14867	N	AEFBI	0.121297	0.23589	N	-1.18035635800702	0.05297	0.2411523	-1.26361198420955	0.04932	0.2338548	2.73436185864375E-4	0.06300	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.44	-6.77	0.01565	0.422000	0.21016	-4.487000	0.02131	-0.116000	0.14526	0.000000	0.06391	0.000000	0.08366	0.936000	0.47498	0.1887:0.0:0.7208:0.0904	10.787	0.45612	692	0.58729	Dynein heavy chain, coiled coil stalk;Dynein heavy chain, coiled coil stalk;Dynein heavy chain, coiled coil stalk	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1062.33	34	chr17	11854426	.	G	A	1062.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.89;DP=720;ExcessHet=0;FS=1.221;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.42;ReadPosRankSum=-0.789;SOR=1.071	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:33,28:61:99:0|1:11854426_G_A:1076,0,1301:11854426	18	0	1	0
chr17	11854427	11854427	C	A	exonic	DNAH9	.	nonsynonymous SNV	DNAH9:NM_001372:exon50:c.C9932A:p.A3311D	.	419	1095	8	0	0	8	0.00363967	0.0156	0.184	YES	2222908	Inborn_genetic_diseases|DNAH9-related_disorder	MeSH:D030342,MedGen:C0950123|.	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.280	0.0526994242547	0.0002	0.000998403	0.0009	9.929e-05	0.0009	0	0	0.0002	0.0012	0.0057	0.0007309	113	154602	rs149935831	0.0005	0.0005	0.0003	0.0007	0.0053	0.0005	0.0004	0.0049	0.0047	2.995e-05	0.0005	3.878e-05	0	1.877e-05	0.0038	0.0002	0.0005	0.0053	0.0004	0.0004	0.0003	0.0004	0.0054	0.0003	0.0003	0.0038	0.0032	2.406e-05	0	0.0001	0	0.0002	9.422e-05	0.0034	0.0003	0.0009	0.0054	0.33	0.16903	T	0.084	0.41239	T	0.421	0.35387	B	0.493	0.47443	P	0.340874	0.13965	N	0.710500	1	0.08975	N	1.605	0.40863	L	-1.4	0.80474	T	-3.43	0.67359	D	0.418	0.45898	-0.0538	0.81126	T	0.523	0.82235	D	10	0.007364273	0.00167	T	0.052699	0.65173	D	0.280	0.59740	.	.	0.827812717529	0.82617	0.33970851897950133	0.33883	0.312824787372	0.33584	0.24742603302	0.03501	T	0.32141	0.82969	T	-0.375914	0.03305	T	-0.311384	0.43509	T	0.0949806294149308	0.11796	T	0.905909	0.66829	D	0.413711	0.61670	0.4236696	0.66230	0.43074062	0.62801	0.4441394	0.67606	-6.907	0.53351	T	.	.	0.149	0.36174	B	.;.;.	.;.;.	2.772828	0.36401	20.2	0.99334938761527458	0.59934	0.20219	0.20959	N	AEFBI	0.211628	0.33740	N	-0.204445868062762	0.32951	1.864017	-0.242335257653652	0.30036	1.687775	5.37750915066184E-4	0.07248	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.44	4.48	0.53973	2.357000	0.43779	3.898000	0.40333	0.599000	0.40250	0.007000	0.17678	0.219000	0.23700	0.943000	0.48514	0.0:0.9286:0.0:0.0713	14.183	0.65125	692	0.58729	Dynein heavy chain, coiled coil stalk;Dynein heavy chain, coiled coil stalk;Dynein heavy chain, coiled coil stalk	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1062.33	34	chr17	11854427	.	C	A	1062.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0;DP=720;ExcessHet=0;FS=1.221;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.42;ReadPosRankSum=-0.775;SOR=1.071	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:33,28:61:99:0|1:11854426_G_A:1076,0,1301:11854426	18	0	1	0
chr17	18120185	18120185	G	A	exonic	MYO15A	.	nonsynonymous SNV	MYO15A:NM_016239:exon2:c.G1385A:p.G462D	Deafness, autosomal recessive 3, Autosomal recessive	0	1496	26	0	0	26	0.00861498	.	.	.	230690	Autosomal_recessive_nonsyndromic_hearing_loss_3|not_specified|MYO15A-related_disorder|not_provided	MONDO:MONDO:0010860,MedGen:C1838263,OMIM:600316,Orphanet:90636|MedGen:CN169374|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.137	0.00846079617299	0.0032	0.00199681	0.0036	0.0005	0.0047	0	0.0020	0.0048	0.0091	0.0019	0.0033958	525	154602	rs145292219	0.0036	0.0036	0.0036	0.0037	0.0135	0.0036	0.0035	0.0111	0.0102	0.0007	0.0043	0.0014	5.038e-05	0.0021	0.0135	0.0041	0.0035	0.0018	0.0033	0.0033	0.0030	0.0035	0.0061	0.0030	0.0029	0.0051	0.0047	0.0006	0	0.0061	0.0014	0	0.0046	0.0068	0.0044	0.0047	0.0017	0.086	0.32610	T	0.252	0.23570	T	0.11	0.26188	B	0.03	0.21741	B	.	.	.	.	0.649619	0.30545	N	1.495	0.37439	L	0.87	0.46412	T	-2.07	0.47344	N	0.453	0.56231	-1.0930	0.05051	T	0.042	0.18202	T	9	0.0044930875	0.00092	T	0.008461	0.22382	T	0.137	0.36984	.	.	0.465294738428	0.46155	0.5363742320479349	0.53562	.	.	0.619306981564	0.55631	T	0.031152	0.56248	T	-0.312222	0.07554	T	-0.220308	0.52708	T	0.00877049237361181	0.00108	T	0.711229	0.32236	T	0.13697459	0.31733	0.14230512	0.33858	0.11124209	0.26288	0.14297454	0.33994	-3.775	0.20432	T	.	.	0.499	0.64550	A	.;.;.	.;.;.	3.921901	0.57260	23.8	0.99655347948461648	0.77568	0.88578	0.48571	D	AEFDBCI	0.551489	0.56354	D	-0.229297224980632	0.31936	1.795857	-0.0328325519200769	0.38241	2.250257	0.0020970045356823	0.09151	0.517182	0.21443	0	0.547309	0.14657	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	5.4	4.43	0.52967	2.953000	0.48798	11.640000	0.93781	0.652000	0.53365	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0759:0.0:0.772:0.1521	8.725	0.33628	246	0.90367	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.010070	0.005051	0.013587	0.002924	0.000000	0.000000	0.006098	0.015152	0.02632	3946.33	36	chr17	18120185	.	G	A	3946.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.857;DP=941;ExcessHet=0;FS=1.414;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.8;ReadPosRankSum=-1.39;SOR=0.592	GT:AD:DP:GQ:PL	0/1:145,141:286:99:3960,0,3917	18	0	1	0
chr17	18778475	18778475	C	T	exonic	FBXW10	.	nonsynonymous SNV	FBXW10:NM_001267586:exon13:c.C2177T:p.A726V,FBXW10:NM_001267585:exon14:c.C2336T:p.A779V	.	.	.	.	.	.	.	.	0.9405	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.0762816345085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.863e-07	6.84e-07	0	1.38e-06	9.005e-07	0	0	.	.	0	0	0	0	0	0	9.005e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.25055	T	0.284	0.22359	T	0.002	0.11197	B	0.001	0.12992	B	.	.	.	.	1	0.81001	D	0.895	0.22405	L	0.39	0.59176	T	-1.16	0.29727	N	0.083	0.06190	-1.0329	0.19522	T	0.092	0.35065	T	7	0.048092306	0.04213	T	0.076282	0.72493	D	0.037	0.09474	0.121	0.02793	0.0551355673512	0.04727	0.15525428449244086	0.15446	.	.	0.26736959815	0.05800	T	0.00708	0.06498	T	-0.240307	0.15308	T	-0.582961	0.14282	T	0.0259550387348338	0.01399	T	0.530047	0.17581	T	0.03245518	0.03273	0.0531972	0.08915	0.03245518	0.03273	0.0531972	0.08914	-3.285	0.13545	T	.	.	0.111	0.26669	B	.;.	.;.	1.723859	0.21947	15.42	0.78169822058956306	0.12185	0.02935	0.07754	N	AEFI	0.122915	0.23827	N	-0.489150254408019	0.22437	1.197974	-0.719783738552562	0.16468	0.8713309	1.3268735807875E-6	0.01202	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.3	1.15	0.19876	-0.244000	0.08921	0.211000	0.15962	0.201000	0.17923	0.004000	0.16614	0.007000	0.19602	0.311000	0.24761	0.2449:0.6153:0.0:0.1397	3.581	0.07505	731	0.54177	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	690.33	33	chr17	18778475	.	C	T	690.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.704;DP=749;ExcessHet=0;FS=0.871;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=46.91;MQRankSum=-2.542;QD=6.28;ReadPosRankSum=-0.349;SOR=0.536	GT:AD:DP:GQ:PL	0/1:77,33:110:99:704,0,2137	18	0	1	0
chr17	35441716	35441716	C	T	exonic	SLFN13	.	nonsynonymous SNV	SLFN13:NM_144682:exon5:c.G1769A:p.R590H	.	447	1072	3	0	0	3	0.0013973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.00716182888017	.	.	8.748e-05	0	0	0.0005	0	9.017e-05	0	0	3.84e-05	1	26028	rs200955907	0.0001	0.0014	0.0001	0.0001	0.0004	9.765e-05	9.233e-05	0.0002	0.0002	3.139e-05	9.476e-05	0	2.545e-05	0	0	0.0001	6.805e-05	0.0004	0.0004	0.0017	0.0003	0.0004	0.0011	0.0003	0.0003	0.0004	0.0003	0.0002	0.0012	0.0008	0	0.0004	0.0004	0	0.0004	0	0.0011	0.153	0.24372	T	0.476	0.14456	T	0.999	0.77913	D	0.98	0.74843	D	0.881109	0.07236	N	1.061880	1	0.08975	N	1.095	0.27400	L	4.46	0.03597	T	-1.18	0.30140	N	0.075	0.05037	-0.9299	0.44153	T	0.018	0.07565	T	10	0.04112664	0.02741	T	0.007162	0.18979	T	0.045	0.12272	.	.	0.356281029322	0.35234	0.1888479518877513	0.18802	2.17442915589	0.95526	0.260066837072	0.04898	T	0.002215	0.01614	T	-0.376637	0.03271	T	-0.77879	0.02490	T	0.0312908365801057	0.02193	T	0.586841	0.21439	T	0.0211579	0.00705	0.020191908	0.00123	0.0211579	0.00704	0.020191908	0.00123	-2.542	0.09999	T	.	.	0.080	0.11797	B	.;.;.;.;.	.;.;.;.;.	0.396056	0.07677	4.346	0.99653604535022244	0.77442	0.00159	0.00951	N	AEFBI	0.069522	0.13765	N	-0.856469299721491	0.11892	0.5764462	-1.00948765204516	0.09575	0.4771982	1.20718916999156E-5	0.02871	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.542086	0.14980	0	.	.	2.89	-0.58	0.11129	-1.203000	0.03129	-20.000000	0.00162	-0.284000	0.06380	0.000000	0.06391	0.000000	0.08366	0.314000	0.24830	0.0:0.5443:0.0:0.4557	5.296	0.15061	392	0.83172	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	107.33	41	chr17	35441716	.	C	T	107.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.21;DP=946;ExcessHet=0;FS=73.96;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=36.49;MQRankSum=-5.359;QD=1.45;ReadPosRankSum=0.54;SOR=4.97	GT:AD:DP:GQ:PL	0/1:63,11:74:99:121,0,1854	18	0	1	0
chr17	35443821	35443821	T	A	exonic	SLFN13	.	nonsynonymous SNV	SLFN13:NM_144682:exon4:c.A1166T:p.H389L	.	430	1086	4	2	0	8	0.00366972	.	.	.	3333018	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.078	0.0115159664791	0.0002	0.000399361	0.0006	0	0.0003	0	0	0.0006	0	0.0018	0.0005304	82	154602	rs184067869	0.0005	0.0005	0.0004	0.0005	0.0021	0.0004	0.0004	0.0018	0.0018	5.975e-05	0.0006	0.0071	0	0	0.0017	0.0002	0.0012	0.0021	0.0005	0.0005	0.0005	0.0006	0.0017	0.0004	0.0004	0.0008	0.0007	4.81e-05	0	0.0012	0.0101	0	0	0.0034	0.0002	0.0024	0.0017	0.647	0.05121	T	0.659	0.06554	T	0.995	0.67487	D	0.969	0.72001	D	0.007352	0.31448	N	0.146331	1	0.08975	N	2.135	0.59519	M	0.4	0.57261	T	-4.97	0.82063	D	0.306	0.34659	-0.8975	0.48244	T	0.173	0.51579	T	10	0.00873071	0.00198	T	0.011516	0.29227	T	0.078	0.22779	.	.	0.666274634411	0.66346	0.18112700107934615	0.18031	0.249144945785	0.27484	0.441260814667	0.30749	T	0.016937	0.35013	T	-0.419071	0.01734	T	-0.399371	0.33457	T	0.139930220092191	0.16269	T	0.739826	0.35853	T	0.05823648	0.11690	0.06686708	0.13754	0.05823648	0.11689	0.06686708	0.13754	-1.222	0.01539	T	.	.	0.177	0.46619	B	.;.;.;.;.;.	.;.;.;.;.;.	0.851131	0.12232	8.777	0.54789028174996957	0.05208	0.01447	0.04852	N	AEFBI	0.037473	0.05159	N	-0.715389949897208	0.15590	0.7869588	-0.923840829369967	0.11532	0.5880733	9.33437994810395E-5	0.04910	0.706548	0.73137	0	0.724815	0.89359	0	0.643519	0.47002	0	0.542086	0.14980	0	.	.	3.68	-0.216	0.12506	-0.305000	0.08227	-5.081000	0.01858	-0.153000	0.12021	0.000000	0.06391	0.000000	0.08366	0.063000	0.16184	0.3836:0.1145:0.0:0.5019	2.927	0.05434	356	0.85138	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.008621	0.003049	0.000000	0.05263	2210.81	38	chr17	35443821	.	T	A	2210.81	.	AC=2;AF=0.053;AN=38;DP=756;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.29;SOR=0.72	GT:AD:DP:GQ:PL	1/1:0,73:73:99:2238,219,0	18	1	0	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	.	.	.	.	.	.	.	.	0.4737	11138.3	106	chr17	37257713	.	C	T	11138.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=0.65;DP=1868;ExcessHet=38.2876;FS=429.8;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=6.26;ReadPosRankSum=-0.138;SOR=13.755	GT:AD:DP:GQ:PL	0/1:40,60:100:99:820,0,417	1	0	18	0
chr17	39872318	39872318	C	T	exonic	ZPBP2	.	nonsynonymous SNV	ZPBP2:NM_198844:exon4:c.C389T:p.T130I,ZPBP2:NM_199321:exon5:c.C455T:p.T152I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.303	0.0610566646681	.	.	8.248e-06	0	0	0	0	0	0	6.066e-05	6.5e-06	1	154602	rs773539004	4.798e-06	4.788e-06	4.091e-06	5.512e-06	0.0002	2e-06	1.28e-06	3e-07	1.1e-07	0	0	0	0	0	0.0002	1.801e-06	4.979e-05	1.168e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.004	0.74150	D	0.999	0.77913	D	0.977	0.73820	D	0.001239	0.39743	N	0.178125	0.824609	0.81001	D	2.045	0.56016	M	0.55	0.54728	T	-3.0	0.62343	D	0.833	0.88137	-0.2005	0.77658	T	0.331	0.69885	T	10	0.87571466	0.86861	D	0.061057	0.68205	D	0.303	0.62400	0.802	0.92089	0.349870743963	0.34602	0.7942194733278887	0.79374	0.647461528529	0.58125	0.608391284943	0.54089	T	0.275087	0.64761	T	0.034697	0.56346	T	-0.0873066	0.64364	T	0.850447714328766	0.50204	D	0.756224	0.38847	T	0.29256698	0.52230	0.36526418	0.61878	0.29256698	0.52230	0.36526418	0.61878	-7.372	0.56707	T	.	.	0.717	0.75313	P	.;.;.	.;.;.	4.584226	0.72443	25.8	0.90289765529958887	0.19558	0.87056	0.46483	D	AEFDGBI	0.326585	0.42781	N	0.631407025546916	0.75171	6.258937	0.617867402067613	0.76237	6.454169	0.999999955137546	0.74766	0.600919	0.35232	0	0.596877	0.49441	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.48	5.48	0.80675	3.334000	0.51814	7.503000	0.59513	0.549000	0.26987	0.991000	0.37257	1.000000	0.68203	0.932000	0.46971	0.0:1.0:0.0:0.0	17.139	0.86627	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	.	.	.	.	.	.	.	.	0.02632	933.33	33	chr17	39872318	.	C	T	933.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.541;DP=758;ExcessHet=0;FS=2.868;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.85;ReadPosRankSum=1.11;SOR=0.498	GT:AD:DP:GQ:PL	0/1:45,41:86:99:947,0,1084	18	0	1	0
chr17	44350293	44350293	T	C	exonic	GRN	.	nonsynonymous SNV	GRN:NM_002087:exon5:c.T415C:p.C139R	Aphasia, primary progressive, Autosomal dominant;Ceroid lipofuscinosis, neuronal, 11, Autosomal recessive;Frontotemporal lobar degeneration with ubiquitin-positive inclusions, Autosomal dominant	0	1518	3	1	0	5	0.0016442	.	.	.	580336	GRN-related_frontotemporal_lobar_degeneration_with_Tdp43_inclusions|not_provided|Inborn_genetic_diseases|GRN-related_disorder|Neuronal_ceroid_lipofuscinosis_11	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485,Orphanet:100070,Orphanet:282|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|.|MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706,Orphanet:314629,Orphanet:79262	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.837	0.711671180279	.	.	0.0002	0	8.639e-05	0	0	0.0002	0	0.0004	0.0001423	22	154602	rs763841075	0.0001	0.0001	0.0001	0.0002	0.0042	0.0001	0.0001	0.0029	0.0024	2.987e-05	0.0002	3.827e-05	0	3.744e-05	0.0042	0.0001	0.0002	0.0003	9.921e-05	9.871e-05	9.039e-05	0.0001	0.0002	6.045e-05	4.91e-05	9.072e-05	7.03e-05	0	0	0.0001	0	0	0	0	0.0002	0.0005	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000426	0.44522	D	0.095317	1	0.81001	D	3.875	0.95948	H	-2.46	0.92613	D	-11.16	0.99359	D	0.944	0.96871	0.927	0.96059	D	0.864	0.95458	D	10	0.9876051	0.99135	D	0.711671	0.97655	D	0.837	0.94877	.	.	0.999776827429	0.99977	0.9844626788853934	0.98439	1.1666736912	0.79651	0.649969637394	0.59982	T	0.455374	0.81609	T	0.273471	0.80751	D	0.465564	0.93909	D	0.994701504707336	0.86158	D	0.788521	0.51841	T	0.9084609	0.92152	0.8884649	0.94159	0.92792344	0.94030	0.87885445	0.93482	-12.505	0.87223	D	0.9232182038188216	0.96702	0.962	0.88362	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.251860	0.64550	24.7	0.9921143879297224	0.55594	0.99295	0.94095	D	AEFDBI	0.945788	0.95449	D	0.647693614577363	0.76219	6.446319	0.468476990666507	0.65912	4.884093	0.999999996314193	0.74766	0.706298	0.61202	0	0.696144	0.67643	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.22	4.22	0.49153	5.062000	0.64156	7.929000	0.74923	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.038000	0.14061	0.0:0.0:0.0:1.0	11.308	0.48584	501	0.75956	Granulin|Granulin;Granulin|Granulin;.;.;Granulin|Granulin;Granulin|Granulin;.	.	.	.	.	.	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	0.002924	0.000000	0.008621	0.003049	0.000000	0.02632	2193.33	105	chr17	44350293	.	T	C	2193.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.104;DP=1466;ExcessHet=0;FS=1.127;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.79;ReadPosRankSum=-1.391;SOR=0.783	GT:AD:DP:GQ:PL	0/1:94,92:186:99:2207,0,2316	18	0	1	0
chr17	44904956	44904956	C	T	exonic	FAM187A	.	nonsynonymous SNV	FAM187A:NM_001258400:exon1:c.C1127T:p.S376L	.	425	1033	62	2	0	66	0.0309568	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	.	.	0.00259585	0.0091	0.0011	0.0068	0	0	0.0013	0.0146	0.0181	0.0013713	212	154602	rs555402721	0.0023	0.0022	0.0017	0.0028	0.0176	0.0022	0.0022	0.0168	0.0165	0.0002	0.0009	0.0004	2.798e-05	0.0007	0.0114	0.0013	0.0028	0.0176	0.0016	0.0016	0.0014	0.0019	0.0172	0.0015	0.0014	0.0142	0.0131	0.0002	0	0.0023	0	0.0002	0.0004	0.0170	0.0016	0.0043	0.0172	0.465	0.08609	T	0.62	0.07444	T	0.103	0.25884	B	0.01	0.14941	B	0.369594	0.04354	N	1.395560	1	0.08975	N	1.7	0.43825	L	0.97	0.42502	T	-1.04	0.27259	N	0.175	0.18784	-1.0236	0.22541	T	0.051	0.21883	T	9	0.004670471	0.00098	T	.	.	.	0.069	0.20116	.	.	0.447609009685	0.44385	0.5473808828241131	0.54664	.	.	0.285807311535	0.08314	T	0.008464	0.07774	T	-0.616405	0.00116	T	-0.64392	0.09385	T	0.0016297578096169	0.00017	T	0.733627	0.34942	T	0.042301055	0.06391	0.033432566	0.02237	0.042301055	0.06391	0.033432566	0.02236	-2.481	0.05653	T	.	.	0.094	0.14523	B	.	.	1.401737	0.18160	13.58	0.63598281148254254	0.07266	0.13302	0.17779	N	AEFDGBHCI	.	.	.	-0.809649728053484	0.13063	0.6409545	-0.827799331297762	0.13823	0.7191289	0.999999166461778	0.74766	0.615465	0.37627	0	0.563428	0.19063	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.54	2.32	0.27895	0.358000	0.19952	2.301000	0.32018	0.599000	0.40250	0.000000	0.06391	0.011000	0.20116	0.043000	0.14563	0.2172:0.4511:0.0:0.3317	4.057	0.09301	764	0.49969	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2398.33	40	chr17	44904956	.	C	T	2398.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.69;DP=857;ExcessHet=0;FS=1.17;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.55;ReadPosRankSum=-1.335;SOR=0.809	GT:AD:DP:GQ:PL	0/1:88,89:177:99:2412,0,2219	18	0	1	0
chr17	45458377	45458377	C	G	exonic	PLEKHM1	.	nonsynonymous SNV	PLEKHM1:NM_001352825:exon6:c.G1371C:p.E457D,PLEKHM1:NM_014798:exon6:c.G1371C:p.E457D	Osteopetrosis, autosomal recessive 6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.0143580586789	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.385	0.11015	T	0.355	0.17217	T	0.0	0.02946	B	0.001	0.04355	B	0.235168	0.15833	N	0.649867	1	0.08975	N	0.95	0.23787	L	-0.08	0.63911	T	-0.45	0.14782	N	0.059	0.03069	-1.0571	0.12491	T	0.122	0.42399	T	10	0.07083118	0.10358	T	0.014358	0.34425	T	0.084	0.24469	0.104	0.01698	0.289027227714	0.28505	0.16051422750294267	0.15972	0.650261180332	0.58318	0.2887776196	0.08745	T	0.032681	0.22592	T	-0.266663	0.12132	T	-0.620819	0.11121	T	0.0419315515854271	0.04043	T	.	.	.	0.0626745	0.13115	0.06319147	0.12479	0.0626745	0.13114	0.06319147	0.12479	-2.859	0.08739	T	.	.	0.086	0.10787	B	.	.	0.513504	0.08826	5.602	0.78159304771646143	0.12180	0.07958	0.13942	N	AEFI	0.128726	0.24661	N	-0.841131931143868	0.12269	0.5969989	-0.841647642415338	0.13488	0.6999802	1.29878646691437E-5	0.02871	0.706548	0.73137	0	0.653731	0.59785	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.12	1.85	0.24418	-0.007000	0.12747	-1.169000	0.06130	0.530000	0.24713	0.005000	0.17040	0.000000	0.08366	0.014000	0.10232	0.2218:0.4783:0.1851:0.1148	2.018	0.03289	368	0.84463	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1665.33	33	chr17	45458377	.	C	G	1665.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.857;DP=744;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=54.56;MQRankSum=-2.003;QD=14.87;ReadPosRankSum=-1.326;SOR=0.687	GT:AD:DP:GQ:PL	0/1:49,63:112:99:1679,0,1136	18	0	1	0
chr17	47831999	47831999	-	GT	exonic	LRRC46	.	frameshift insertion	LRRC46:NM_033413:exon1:c.10_11insGT:p.K5Gfs*24	.	429	1088	5	0	0	5	0.00229253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8e-05	.	0.0006	0	0	0.0044	0	0.0004	0.0011	0.0003	0.0004981	77	154602	rs536101939	0.0004	0.0004	0.0004	0.0004	0.0047	0.0004	0.0004	0.0042	0.0040	2.988e-05	6.708e-05	0.0072	0.0047	0	0.0007	9.622e-05	0.0007	0.0004	0.0003	0.0003	0.0003	0.0004	0.0042	0.0003	0.0002	0.0029	0.0024	0	0	0	0.0063	0.0042	0	0	4.41e-05	0.0005	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002014	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.007576	0.02632	515.29	39	chr17	47831999	.	G	GGT	515.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.266;DP=696;ExcessHet=0;FS=2.778;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.74;ReadPosRankSum=0.394;SOR=0.357	GT:AD:DP:GQ:PL	0/1:32,16:48:99:529,0,1243	18	0	1	0
chr17	49217800	49217800	A	G	exonic	ABI3	.	nonsynonymous SNV	ABI3:NM_001135186:exon3:c.A329G:p.Q110R,ABI3:NM_016428:exon3:c.A347G:p.Q116R	.	417	1100	5	0	0	5	0.00226757	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.00453559977852	0.0008	0.000599042	0.0012	0.0003	0.0005	0	0.0003	0.0015	0.0033	0.0019	0.0010996	170	154602	rs142527437	0.0014	0.0014	0.0014	0.0015	0.0020	0.0014	0.0013	0.0018	0.0017	0.0002	0.0004	0.0002	0	0.0004	0.0016	0.0016	0.0012	0.0020	0.0008	0.0008	0.0009	0.0008	0.0015	0.0007	0.0007	0.0012	0.0011	0.0002	0	0.0005	0	0	0.0003	0	0.0015	0	0.0014	0.012	0.54683	D	0.097	0.40426	T	0.101	0.25775	B	0.138	0.33406	B	0.115946	0.19213	N	0.436137	0.616885	0.32671	D	0.695	0.17993	N	3.02	0.08986	T	0.12	0.05604	N	0.233	0.26717	-1.0450	0.15825	T	0.017	0.07045	T	10	0.011310279	0.00248	T	0.004536	0.11157	T	0.061	0.17616	.	.	0.346315397577	0.34243	0.13968753467718617	0.13891	0.05900156882	0.06553	0.376348644495	0.21738	T	0.052198	0.29093	T	-0.519646	0.00442	T	-0.524138	0.19876	T	0.0255160735672477	0.01340	T	0.567243	0.20104	T	0.044850662	0.07242	0.054977734	0.09558	0.044850662	0.07242	0.054977734	0.09557	-7.574	0.58129	D	.	.	0.081	0.08368	B	.;.	.;.	2.044265	0.25985	16.96	0.98958881482081007	0.49285	0.94584	0.61642	D	AEFDGBCI	0.707635	0.66230	D	-0.235861170875588	0.31671	1.778277	-0.0892259490499853	0.35835	2.077924	0.999999992163253	0.74766	0.730579	0.87903	0	0.749866	0.99406	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	4.92	3.82	0.43153	4.442000	0.59730	5.783000	0.49817	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.206000	0.22070	0.8326:0.0:0.0:0.1674	9.206	0.36451	678	0.60190	Abl-interactor, homeo-domain homologous domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003024	0.000000	0.001359	0.000000	0.000000	0.000000	0.006135	0.007576	0.02632	1063.33	33	chr17	49217800	.	A	G	1063.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.282;DP=721;ExcessHet=0;FS=0.782;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.43;ReadPosRankSum=1.41;SOR=0.804	GT:AD:DP:GQ:PL	0/1:45,48:93:99:1077,0,1119	18	0	1	0
chr17	50578409	50578409	C	G	exonic	CACNA1G	.	nonsynonymous SNV	CACNA1G:NM_001256324:exon9:c.C2146G:p.L716V,CACNA1G:NM_001256325:exon9:c.C2146G:p.L716V,CACNA1G:NM_001256326:exon9:c.C2146G:p.L716V,CACNA1G:NM_001256327:exon9:c.C2146G:p.L716V,CACNA1G:NM_001256328:exon9:c.C2146G:p.L716V,CACNA1G:NM_001256329:exon9:c.C2146G:p.L716V,CACNA1G:NM_001256330:exon9:c.C2146G:p.L716V,CACNA1G:NM_001256331:exon9:c.C2146G:p.L716V,CACNA1G:NM_001256332:exon9:c.C2146G:p.L716V,CACNA1G:NM_001256333:exon9:c.C2146G:p.L716V,CACNA1G:NM_001256334:exon9:c.C2146G:p.L716V,CACNA1G:NM_001256359:exon9:c.C2146G:p.L716V,CACNA1G:NM_001256360:exon9:c.C2146G:p.L716V,CACNA1G:NM_001256361:exon9:c.C2146G:p.L716V,CACNA1G:NM_018896:exon9:c.C2146G:p.L716V,CACNA1G:NM_198376:exon9:c.C2146G:p.L716V,CACNA1G:NM_198377:exon9:c.C2146G:p.L716V,CACNA1G:NM_198378:exon9:c.C2146G:p.L716V,CACNA1G:NM_198379:exon9:c.C2146G:p.L716V,CACNA1G:NM_198380:exon9:c.C2146G:p.L716V,CACNA1G:NM_198382:exon9:c.C2146G:p.L716V,CACNA1G:NM_198383:exon9:c.C2146G:p.L716V,CACNA1G:NM_198384:exon9:c.C2146G:p.L716V,CACNA1G:NM_198385:exon9:c.C2146G:p.L716V,CACNA1G:NM_198386:exon9:c.C2146G:p.L716V,CACNA1G:NM_198387:exon9:c.C2146G:p.L716V,CACNA1G:NM_198388:exon9:c.C2146G:p.L716V,CACNA1G:NM_198396:exon9:c.C2146G:p.L716V	Spinocerebellar ataxia 42, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.221	0.0941166639061	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	0	2.752e-06	2.319e-05	2.3e-07	9e-08	3.85e-06	1.44e-06	0	0	0	0	0	0	0	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.356	0.12837	T	0.538	0.15554	T	0.062	0.23277	B	0.085	0.35348	B	0.000783	0.00685	N	4.694730	1	0.08975	N	0.65	0.16133	N	-4.01	0.96826	D	-0.86	0.23372	N	0.302	0.36148	0.070	0.83613	D	0.835	0.94486	D	10	0.09592971	0.17169	T	0.094117	0.76195	D	0.221	0.51721	0.247	0.18293	0.676037036687	0.67328	0.2151509719885316	0.21431	0.0747485147847	0.08389	0.332052528858	0.15245	T	0.025	0.44901	T	0.0244735	0.54983	T	-0.202622	0.54398	T	0.366293966770172	0.27653	T	0.787421	0.43818	T	0.07126265	0.15763	0.0577495	0.10554	0.07126265	0.15762	0.0577495	0.10554	-5.673	0.45033	T	0.15930614139036198	0.19362	0.067	0.05404	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	1.881734	0.23905	16.19	0.87910544708640104	0.17573	0.21185	0.21311	N	AEFBI	0.240837	0.36255	N	-0.864014272389238	0.11707	0.5664329	-0.900845845286539	0.12074	0.618983	0.142450602797462	0.17298	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	4.98	1.74	0.23636	0.359000	0.19970	2.646000	0.33784	0.599000	0.40250	0.000000	0.06391	0.971000	0.29754	0.927000	0.46353	0.1379:0.6563:0.1329:0.0729	6.314	0.20386	940	0.13648	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2776.33	36	chr17	50578409	.	C	G	2776.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.476;DP=914;ExcessHet=0;FS=1.031;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.62;ReadPosRankSum=0.443;SOR=0.62	GT:AD:DP:GQ:PL	0/1:104,116:220:99:2790,0,2554	18	0	1	0
chr17	61968034	61968034	C	A	splicing	MED13	NM_005121:exon18:c.4191+1G>T	.	.	.	.	.	.	.	.	.	.	1.0000	0.938	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.456739	0.92777	D	0.418298	0.92688	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.387992	0.95128	34	0.99434305550024649	0.64423	0.99019	0.90044	D	AEFDGBI	.	.	.	1.18346581302745	0.99385	22.32749	1.03762206024886	0.99231	21.357	0.999999999803192	0.74766	0.156188	0.03335	0	0.156173	0.03658	0	0.128073	0.03558	0	0.089874	0.02613	0	0.978971	0.83387	5.44	5.44	0.79348	7.568000	0.81546	7.706000	0.66547	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	19.245	0.93883	91	0.96221	.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1316	691.29	68	chr17	61968034	.	C	A	691.29	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-0.705;DP=1218;ExcessHet=25.4433;FS=198.029;InbreedingCoeff=-0.6911;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=0.76;ReadPosRankSum=1.43;SOR=10.515	GT:AD:DP:GQ:PL	0/1:30,14:44:18:18,0,367	14	0	5	0
chr17	62010836	62010836	A	G	exonic	MED13	.	nonsynonymous SNV	MED13:NM_005121:exon9:c.T1681C:p.Y561H	.	422	1095	5	0	0	5	0.0022779	.	.	.	3212295	not_provided|MED13-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.373	0.0766067936641	8.3e-05	0.000199681	0.0003	0	0.0003	0	0	0.0001	0.0011	0.0012	0.000207	32	154602	rs373796910	0.0002	0.0002	0.0001	0.0002	0.0033	0.0002	0.0001	0.0022	0.0018	0	8.944e-05	0	0	0	0.0033	5.306e-05	0.0004	0.0016	0.0001	0.0001	0.0001	0.0001	0.0012	8.162e-05	6.719e-05	0.0005	0.0004	2.406e-05	0	0.0003	0	0	0	0	7.349e-05	0.0009	0.0012	0.026	0.46910	D	0.001	0.83351	D	0.999	0.77913	D	0.994	0.82059	D	0.000006	0.62929	D	0.110970	0.999984	0.54805	D	2.165	0.60562	M	-0.91	0.75001	T	-1.41	0.34795	N	0.774	0.77132	-0.1546	0.78803	T	0.504	0.81295	D	10	0.25547162	0.42940	T	0.076607	0.72573	D	0.373	0.69188	.	.	0.424463159835	0.42065	0.4099128670844817	0.40907	0.840773140511	0.68051	0.792129397392	0.80767	T	0.225351	0.59005	T	-0.297553	0.08893	T	-0.219205	0.52814	T	0.0935145069661999	0.11628	T	0.929307	0.73951	D	0.12230217	0.28743	0.109002374	0.26264	0.12230217	0.28743	0.109002374	0.26263	-3.262	0.13252	T	.	.	0.322	0.54653	B	.	.	4.597109	0.72769	25.9	0.95017384593321652	0.25998	0.98965	0.89272	D	AEDGBI	0.855953	0.77312	D	0.264548452038356	0.54362	3.601987	0.332133515729618	0.57437	3.909442	0.862688314009017	0.25256	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	6.02	4.94	0.64645	8.185000	0.89651	9.290000	0.79784	-0.065000	0.16512	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.9337:0.0:0.0663:0.0	12.221	0.53745	233	0.90919	.	.	.	.	.	.	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	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2122.33	34	chr17	62010836	.	A	G	2122.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.37;DP=777;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.34;ReadPosRankSum=-1.367;SOR=0.693	GT:AD:DP:GQ:PL	0/1:74,74:148:99:2136,0,2025	18	0	1	0
chr17	63838644	63838644	C	G	exonic	SMARCD2	.	nonsynonymous SNV	SMARCD2:NM_001330440:exon1:c.G38C:p.W13S	.	408	1113	1	0	0	1	0.000449035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.0117318364973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.449e-07	2.052e-06	0	1.513e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.788e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.403	0.14865	T	0.89	0.48942	P	0.607	0.51000	P	.	.	.	.	0.999999	0.20694	N	.	.	.	1.08	0.39401	T	0.94	0.01529	N	0.449	0.48689	-1.0525	0.13709	T	0.099	0.36856	T	8	0.18052217	0.33240	T	0.011732	0.29644	T	0.093	0.26882	0.101	0.01536	0.110392049598	0.10638	.	.	.	.	.	.	.	.	.	.	-0.182011	0.23436	T	-0.499222	0.22427	T	0.184633139936623	0.19522	T	0.281772	0.04941	T	.	.	.	.	.	.	.	.	-2.067	0.03445	T	.	.	0.080	0.07650	B	.	.	1.720652	0.21908	15.40	0.74802346819741927	0.10833	0.17557	0.19888	N	AEFDBHCIJ	0.104171	0.20850	N	-0.440192890361603	0.24073	1.297328	-0.63737719135243	0.18536	0.9906161	0.999999999995315	0.74766	0.50284	0.20314	0	0.587265	0.34161	0	0.338622	0.05889	2	0.645665	0.59343	0	.	.	2.78	1.8	0.24069	1.615000	0.36533	1.054000	0.23662	0.517000	0.23534	0.021000	0.19753	0.868000	0.27561	0.014000	0.10232	0.0:0.8433:0.0:0.1566	5.490	0.16061	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	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	651.33	34	chr17	63838644	.	C	G	651.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.089;DP=703;ExcessHet=0;FS=0.889;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.05;ReadPosRankSum=-0.771;SOR=0.826	GT:AD:DP:GQ:PL	0/1:42,30:72:99:665,0,1073	18	0	1	0
chr17	69194391	69194391	T	G	exonic	ABCA10	.	nonsynonymous SNV	ABCA10:NM_001377321:exon12:c.A1339C:p.T447P,ABCA10:NM_080282:exon13:c.A1339C:p.T447P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.526	0.0706512358573	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	0.999	0.77913	D	0.991	0.79672	D	0.134411	0.18517	U	0.279124	1	0.08975	N	2.905	0.84014	M	-3.44	0.94428	D	-5.19	0.83625	D	0.316	0.35620	0.986	0.96957	D	0.905	0.96836	D	10	0.6209373	0.67973	D	0.070651	0.71060	D	0.526	0.79947	0.631	0.76699	0.699037688466	0.69643	0.5532918652599023	0.55255	0.243943641455	0.26902	0.252976089716	0.04087	T	0.533151	0.83880	D	0.135842	0.67927	D	-0.0426483	0.67523	D	0.895191133022308	0.54670	D	0.914809	0.69637	D	0.6011463	0.72753	0.5017864	0.71199	0.6011463	0.72754	0.5017864	0.71199	-11.463	0.82137	D	.	.	0.239	0.47261	B	.	.	1.737620	0.22111	15.49	0.99165558929957254	0.54241	0.13345	0.17803	N	AEFBIJ	0.286709	0.39903	N	-0.111038399058478	0.36910	2.140095	-0.406183954240203	0.24816	1.361035	7.03656766406363E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	3.8	-0.0796	0.13044	-0.113000	0.10745	-5.355000	0.01750	0.587000	0.30956	0.003000	0.16062	0.000000	0.08366	0.207000	0.22098	0.7412:0.0:0.0:0.2588	10.925	0.46398	910	0.22284	ABC transporter-like|ABC transporter-like|AAA+ ATPase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	96.33	103	chr17	69194391	.	T	G	96.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.538;DP=1177;ExcessHet=0;FS=298.69;InbreedingCoeff=-0.0272;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.58;ReadPosRankSum=0.578;SOR=9.981	GT:AD:DP:GQ:PL	0/1:112,55:167:99:110,0,1832	18	0	1	0
chr17	74893569	74893569	A	0	exonic	FADS6	.	.	.	.	427	899	3	0	193	196	0.00166574	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	810.55	60	chr17	74893569	.	A	*	810.55	.	AC=7;AF=0.184;AN=38;BaseQRankSum=0.891;DP=1146;ExcessHet=0.6689;FS=3.245;InbreedingCoeff=0.0483;MLEAC=7;MLEAF=0.184;MQ=59.31;MQRankSum=-2.9;QD=2.05;ReadPosRankSum=2.93;SOR=0.97	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,44:44:99:.:.:1818,137,0:.	13	1	5	0
chr17	75588164	75588164	G	A	exonic	MYO15B	.	nonsynonymous SNV	MYO15B:NM_001309242:exon1:c.G107A:p.R36Q	.	936	581	4	1	0	6	0.00513699	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00359425	.	.	.	.	.	.	.	.	0.003842	100	26028	rs138310978	0.0077	0.0033	0.0077	0.0076	0.0082	0.0074	0.0073	0.0079	0.0077	0.0011	0.0036	0.0112	0	0.0160	0.0023	0.0082	0.0059	0.0053	0.0068	0.0068	0.0067	0.0068	0.0091	0.0064	0.0063	0.0085	0.0082	0.0018	0.0230	0.0027	0.0124	0	0.0193	0	0.0091	0.0038	0.0048	.	.	.	0.02	0.58613	D	.	.	.	.	.	.	.	.	.	.	0.999917	0.19599	N	.	.	.	.	.	.	.	.	.	0.061	0.03283	.	.	.	.	.	.	.	0.004285753	0.00086	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010639	0.09586	T	.	.	.	.	.	.	.	.	.	0.517348	0.16736	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.07985	B	.;.	.;.	-0.354299	0.02388	0.265	0.91627651622962736	0.20913	0.01361	0.04657	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999999991738432	0.74766	0.199473	0.04044	0	0.225491	0.04819	0	0.215285	0.04585	0	0.104772	0.03119	1	0.0731678	0.17106	2.58	-5.17	0.02632	-2.507000	0.01038	-2.944000	0.03206	-0.832000	0.02862	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.1373:0.2383:0.5048:0.1196	3.172	0.06166	973	0.05605	.;.	.	.	.	.	rs138310978	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	126.33	16	chr17	75588164	.	G	A	126.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.517;DP=444;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.02;ReadPosRankSum=0.065;SOR=0.368	GT:AD:DP:GQ:PL	0/1:8,6:14:99:140,0,219	18	0	1	0
chr17	76101266	76101266	C	A	exonic	EXOC7	.	nonsynonymous SNV	EXOC7:NM_001282314:exon4:c.G422T:p.R141M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.0378504159536	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.39334	T	0.004	0.74150	D	0.32	0.32998	B	0.244	0.38795	B	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	-0.48	0.15379	N	0.448	0.48596	-0.8015	0.55056	T	0.198	0.55315	T	7	0.3191113	0.49302	T	0.03785	0.57866	D	0.124	0.34239	0.405	0.43738	0.723402577445	0.72095	.	.	.	.	.	.	.	0.100992	0.40732	T	-0.0610733	0.42738	T	-0.325504	0.41969	T	0.42159089687041	0.29749	T	0.159784	0.01435	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.207	0.43393	B	.	.	4.505170	0.70502	25.5	0.93455728792751869	0.23240	0.98943	0.88962	D	AEFBI	0.880621	0.80740	D	0.700131903697102	0.79642	7.120684	0.68219019462069	0.81027	7.431805	0.99999999521943	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.463624	0.06942	0	0.491896	0.07777	0	.	.	5.84	5.84	0.93373	4.935000	0.63199	.	.	0.581000	0.30040	1.000000	0.71638	1.000000	0.68203	0.589000	0.31115	0.0:1.0:0.0:0.0	20.139	0.98050	670	0.60992	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	319.83	33	chr17	76101266	.	C	A	319.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-4.285;DP=931;ExcessHet=0.119;FS=180.589;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=0.98;ReadPosRankSum=1.34;SOR=8.349	GT:AD:DP:GQ:PL	0/1:154,29:183:99:109,0,3514	17	0	2	0
chr17	76574484	76574484	C	T	exonic	ST6GALNAC2	.	nonsynonymous SNV	ST6GALNAC2:NM_006456:exon3:c.G242A:p.R81H	.	.	.	.	.	.	.	.	.	.	.	3475085	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.032	0.0143299530033	.	.	8.466e-06	0	0	0	0	0	0	6.095e-05	6.5e-06	1	154602	rs767316340	1.519e-05	1.505e-05	1.374e-05	1.666e-05	5.16e-05	9.95e-06	8.49e-06	9.25e-06	4.58e-06	3.029e-05	0	0	5.16e-05	3.817e-05	0	1.088e-05	3.36e-05	3.484e-05	1.328e-05	1.321e-05	0	2.722e-05	0.0002	2.21e-06	8.3e-07	.	.	0	0	0	0	0	0	0	1.479e-05	0	0.0002	0.091	0.31834	T	0.164	0.31026	T	0.031	0.20130	B	0.006	0.12133	B	0.104048	0.19720	N	0.506251	0.999997	0.08975	N	1.14	0.29013	L	1.42	0.33189	T	-2.27	0.50666	N	0.161	0.16864	-1.0415	0.16860	T	0.048	0.20355	T	10	0.117180794	0.22123	T	0.01433	0.34374	T	0.032	0.07718	0.646	0.78330	0.221734844693	0.21761	0.46828304918134916	0.46747	0.213063653711	0.23811	0.232325062156	0.02145	T	0.075725	0.35247	T	-0.402439	0.02232	T	-0.646724	0.09186	T	0.0347699892971249	0.02769	T	0.651635	0.26249	T	0.057572953	0.11476	0.059842646	0.11297	0.057572953	0.11475	0.059842646	0.11297	-6.892	0.53240	T	.	.	0.086	0.10545	B	.	.	1.814110	0.23053	15.87	0.97252872686825764	0.33052	0.02796	0.07514	N	AEFDBI	0.098708	0.19884	N	-1.16343490789377	0.05562	0.2538947	-1.23653671831033	0.05334	0.2538679	0.00984345942058723	0.11923	0.554377	0.28877	0	0.547309	0.14657	0	0.573078	0.19857	0	0.567892	0.33627	0	.	.	4.6	-2.42	0.06164	0.156000	0.16200	.	.	-0.203000	0.08628	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.0:0.4618:0.0:0.5382	9.361	0.37360	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	.	.	.	.	.	.	.	.	0.02632	1126.33	41	chr17	76574484	.	C	T	1126.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.31;DP=833;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=-1.176;SOR=0.714	GT:AD:DP:GQ:PL	0/1:47,45:92:99:1140,0,979	18	0	1	0
chr17	76775071	76775071	G	A	exonic	MFSD11	.	nonsynonymous SNV	MFSD11:NM_001242536:exon10:c.G793A:p.V265M,MFSD11:NM_001242537:exon10:c.G793A:p.V265M,MFSD11:NM_001242532:exon11:c.G949A:p.V317M,MFSD11:NM_001242533:exon12:c.G949A:p.V317M,MFSD11:NM_001242534:exon12:c.G949A:p.V317M,MFSD11:NM_001242535:exon12:c.G949A:p.V317M,MFSD11:NM_001353017:exon12:c.G949A:p.V317M,MFSD11:NM_001353018:exon12:c.G949A:p.V317M,MFSD11:NM_001353019:exon12:c.G949A:p.V317M,MFSD11:NM_024311:exon12:c.G949A:p.V317M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.389	0.113494546619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.25154	T	0.072	0.43344	T	0.444	0.77913	B	0.206	0.69900	B	0.000022	0.55875	N	0.157312	0.99995	0.52396	D	2.035	0.55589	M	-1.51	0.81399	D	-1.59	0.38345	N	0.362	0.41360	0.089	0.83967	D	0.587	0.85180	D	10	0.35098064	0.51958	T	0.113495	0.79202	D	0.389	0.70521	0.386	0.40624	0.77215876921	0.77007	0.5823514746423063	0.58164	0.375274958935	0.38983	0.518441021442	0.41406	T	0.081199	0.36540	T	-0.0375309	0.46315	T	-0.291687	0.45596	T	0.66774570941925	0.39237	D	0.909509	0.70254	D	0.100189134	0.23654	0.14299433	0.33999	0.100189134	0.23654	0.14299433	0.33998	-5.131	0.38232	T	.	.	0.334	0.55521	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.543789	0.49785	22.8	0.99831393996182194	0.91284	0.90831	0.52342	D	AEFBI	0.319501	0.42288	N	0.24044712594981	0.53168	3.48698	0.254911135762694	0.52928	3.464604	0.201832108864295	0.18133	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.51	3.54	0.39650	2.572000	0.45663	.	.	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.138:0.0:0.862:0.0	12.197	0.53612	827	0.39843	Major facilitator superfamily domain;Major facilitator superfamily domain;Major facilitator superfamily domain;.;.;Major facilitator superfamily domain;Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1182.33	35	chr17	76775071	.	G	A	1182.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.42;DP=721;ExcessHet=0;FS=0.823;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.91;ReadPosRankSum=-0.46;SOR=0.546	GT:AD:DP:GQ:PL	0/1:38,47:85:99:1196,0,1008	18	0	1	0
chr17	78171999	78171999	G	C	exonic	SYNGR2	.	stoploss	SYNGR2:NM_001363778:exon3:c.G827C:p.X276S	.	425	1036	59	2	0	63	0.0295082	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00559105	0.0079	0.0018	0.0076	0	0.0048	0.0099	0.0165	0.0083	0.0067334	1041	154602	rs143144653	0.0067	0.0067	0.0064	0.0071	0.0240	0.0066	0.0066	0.0208	0.0195	0.0017	0.0083	0.0146	0	0.0058	0.0240	0.0066	0.0080	0.0085	0.0063	0.0063	0.0066	0.0060	0.0135	0.0060	0.0058	0.0120	0.0115	0.0013	0	0.0135	0.0109	0	0.0051	0.0204	0.0079	0.0104	0.0085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.001	0.00004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.75592	0.00016	T	-0.847572	0.00991	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.232574	0.02928	0.427	0.50376417526431616	0.04373	0.07884	0.13873	N	AEFDBHCI	.	.	.	.	.	.	.	.	.	0.999987626685079	0.51787	0.256867	0.04430	0	0.261133	0.04861	0	0.203592	0.04532	1	0.375513	0.06772	0	0.0496666	0.09133	2.0	-0.67	0.10812	-0.824000	0.04545	-0.255000	0.10474	-1.506000	0.01022	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2093:0.0:0.4797:0.311	2.049	0.03351	923	0.18507	.	TK1|AFMID|LGALS3BP|TMC8|SYNGR2	Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Testis|Whole_Blood	.	.	.	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	.	.	.	.	.	.	.	.	0.05263	4268.83	38	chr17	78171999	.	G	C	4268.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.83;DP=881;ExcessHet=0.119;FS=7.291;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=59.99;MQRankSum=0;QD=14.77;ReadPosRankSum=0.636;SOR=1.136	GT:AD:DP:GQ:PL	0/1:82,74:156:99:2100,0,2186	17	0	2	0
chr17	80065569	80065569	C	T	exonic	CCDC40	.	nonsynonymous SNV	CCDC40:NM_001243342:exon10:c.C1525T:p.R509C,CCDC40:NM_001330508:exon10:c.C1525T:p.R509C,CCDC40:NM_017950:exon10:c.C1525T:p.R509C	Ciliary dyskinesia, primary, 15	.	.	.	.	.	.	.	.	.	.	846368	Primary_ciliary_dyskinesia	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.524	0.568224702929	.	.	3.388e-05	0	0	0	0	4.633e-05	0	6.076e-05	2.59e-05	4	154602	rs749901313	1.095e-05	1.094e-05	1.362e-05	8.257e-06	1.169e-05	6.48e-06	5.25e-06	6.52e-06	5.03e-06	0	0	0	0	0	0	1.169e-05	3.313e-05	1.16e-05	1.316e-05	1.314e-05	2.571e-05	0	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	0.001	0.78490	D	0.004	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	0.999992	0.81001	D	2.965	0.85198	M	0.02	0.85003	T	-7.4	0.95394	D	0.856	0.86511	0.696	0.93121	D	0.766	0.92040	D	9	0.93200195	0.92536	D	0.568225	0.96085	D	0.524	0.79825	0.651	0.78858	0.838348293362	0.83680	0.6232625051390058	0.62259	0.841245219512	0.68085	0.546136200428	0.45313	T	0.598727	0.87108	D	0.13905	0.68236	D	0.142255	0.79690	D	0.952154397964478	0.63725	D	0.929107	0.75346	D	0.37836188	0.59198	0.38410223	0.63359	0.37836188	0.59198	0.38410223	0.63358	-9.956	0.76242	D	0.7818054722173851	0.86158	0.308	0.58132	B	.;.;.	.;.;.	4.460889	0.69433	25.4	0.99871927311625852	0.94989	0.73459	0.35933	D	AEFDBHCI	0.393424	0.47107	N	0.458416598512243	0.64682	4.72833	0.294957561456362	0.55243	3.687663	0.999998674307699	0.74766	0.554377	0.28877	0	0.657636	0.61667	0	0.615044	0.40820	1	0.567892	0.33627	0	.	.	5.14	5.14	0.70008	4.005000	0.56787	4.604000	0.44009	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.029000	0.12982	0.1497:0.8503:0.0:0.0	14.256	0.65598	884	0.28482	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	824.33	42	chr17	80065569	.	C	T	824.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.98;DP=787;ExcessHet=0;FS=7.273;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.33;ReadPosRankSum=0.571;SOR=1.501	GT:AD:DP:GQ:PL	0/1:65,34:99:99:838,0,1558	18	0	1	0
chr17	82436732	82436732	G	A	exonic	HEXD	.	nonsynonymous SNV	HEXD:NM_001369488:exon6:c.G421A:p.G141S,HEXD:NM_001330542:exon7:c.G697A:p.G233S,HEXD:NM_173620:exon7:c.G697A:p.G233S,HEXD:NM_001369487:exon8:c.G421A:p.G141S	.	431	1087	4	0	0	4	0.00183655	.	.	.	3273917	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.112	0.00938694115301	.	.	0.0002	0	0	0.0001	0	7.19e-05	0.0015	0.0008	0.00011	17	154602	rs748862815	0.0002	0.0002	0.0001	0.0002	0.0007	0.0002	0.0001	0.0005	0.0005	0	8.987e-05	0.0005	5.045e-05	0	0.0005	0.0001	0.0002	0.0007	5.909e-05	5.905e-05	7.709e-05	4.029e-05	0.0008	3.075e-05	2.209e-05	0.0003	0.0002	0	0	0	0.0006	0	0	0	4.41e-05	0	0.0008	0.255	0.16848	T	0.86	0.17014	T	.	.	.	.	.	.	0.466298	0.12331	N	0.767882	1	0.08975	N	.	.	.	1.52	0.43279	T	0.02	0.06739	N	0.35	0.45426	-0.9752	0.36082	T	0.030	0.12892	T	10	0.020420253	0.00470	T	0.009387	0.24623	T	0.112	0.31546	.	.	0.0551355673512	0.04727	0.4714904332761294	0.47068	0.189338636663	0.21250	0.321428596973	0.13638	T	.	.	.	-0.424298	0.01607	T	-0.457665	0.26854	T	0.00532598591941409	0.00058	T	0.256474	0.24270	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.08465	B	.;.;.;.;.	.;.;.;.;.	1.378421	0.17898	13.43	0.84668150352143923	0.15427	0.17180	0.19724	N	AEFDGBHCI	0.056432	0.10432	N	-1.35078912469601	0.03117	0.13871	-1.3522550594879	0.03779	0.1769968	0.898374824673666	0.26025	0.634777	0.41761	0	0.643519	0.57511	0	0.643519	0.47002	0	0.699875	0.68795	0	.	.	5.37	-3.2	0.04838	0.129000	0.15656	-0.652000	0.08023	-0.707000	0.03972	0.003000	0.16062	0.000000	0.08366	0.092000	0.17891	0.5287:0.0:0.3616:0.1097	7.587	0.27167	.	.	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1175.33	33	chr17	82436732	.	G	A	1175.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.06;DP=768;ExcessHet=0;FS=1.821;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.67;ReadPosRankSum=0.813;SOR=0.484	GT:AD:DP:GQ:PL	0/1:41,45:86:99:1189,0,1043	18	0	1	0
chr17	82735638	82735638	T	C	exonic	FN3K	.	startloss	FN3K:NM_022158:exon1:c.T2C:p.M1?	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.326	0.934256063682	.	.	7.399e-05	0	0	0	0	0.0002	0	0	6.5e-06	1	154602	rs765794717	1.157e-05	1.368e-05	1.145e-05	1.17e-05	2.743e-05	6.85e-06	5.54e-06	5.92e-06	4.68e-06	0	2.743e-05	0	0	0	0	1.111e-05	3.481e-05	1.276e-05	2.636e-05	2.629e-05	1.288e-05	4.049e-05	0.0002	8.16e-06	5.15e-06	4.89e-06	1.83e-06	0	0	0	0	0.0002	0	0	2.947e-05	0.0005	0	0.001	0.78490	D	0.001	0.83351	D	0.932	0.51990	P	0.775	0.57058	P	0.000000	0.84330	D	0.040310	1	0.81001	D	.	.	.	0.8	0.48769	T	-4.68	0.79659	D	0.851	0.84713	-0.7998	0.55156	T	0.197	0.55158	T	8	0.98815405	0.99219	D	0.934256	0.99527	D	0.326	0.64826	0.836	0.94356	0.82419745837	0.82253	0.8265045619443577	0.82608	.	.	.	.	.	0.644798	0.89149	D	0.134367	0.67785	D	-0.0244963	0.68733	D	0.996223926544189	0.88912	D	0.9	0.65058	D	0.8799621	0.89663	0.92453414	0.96716	0.8799621	0.89665	0.92453414	0.96716	-6.851	0.52937	T	.	.	.	.	.	.	.	3.771126	0.54171	23.5	0.98936332939658578	0.48845	0.91716	0.54112	D	ALL	0.025032	0.01647	N	0.231814933431725	0.52747	3.446943	0.193357437436437	0.49482	3.150848	0.999999996851096	0.74766	0.421363	0.06395	0	0.550933	0.16991	0	0.52208	0.10781	0	0.581474	0.35302	0	.	.	4.12	4.12	0.47504	3.570000	0.53578	4.572000	0.43884	0.570000	0.28895	1.000000	0.71638	1.000000	0.68203	0.253000	0.23340	0.0:0.0:0.0:1.0	10.120	0.41787	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	169.33	33	chr17	82735638	.	T	C	169.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.549;DP=545;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.06;ReadPosRankSum=0.06;SOR=0.802	GT:AD:DP:GQ:PL	0/1:15,9:24:99:183,0,347	18	0	1	0
chr18	6729915	6729915	C	G	exonic	ARHGAP28	.	nonsynonymous SNV	ARHGAP28:NM_001366230:exon1:c.C94G:p.R32G,ARHGAP28:NM_001366231:exon1:c.C94G:p.R32G	.	410	1091	20	1	0	22	0.00998185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	.	.	0.000599042	0.0035	0	0	0	.	0.0104	0	0.0021	0.0002135	33	154602	rs534903406	0.0009	0.0009	0.0009	0.0010	0.0152	0.0009	0.0009	0.0120	0.0108	0.0006	0.0021	0.0076	3.643e-05	0	0.0152	0.0007	0.0021	0.0008	0.0012	0.0012	0.0013	0.0012	0.0033	0.0011	0.0010	0.0026	0.0023	0.0003	0	0.0033	0.0095	0.0002	0	0.0205	0.0012	0.0033	0.0002	.	.	.	0.262	0.22895	T	.	.	.	.	.	.	.	.	.	.	0.990449	0.24170	N	0	0.06538	N	3.23	0.06931	T	.	.	.	0.208	0.23125	-1.1103	0.03044	T	0.032	0.13767	T	6	0.0059042573	0.00132	T	.	.	.	.	.	.	.	0.36453787251	0.36064	.	.	.	.	.	.	.	0.004606	0.04008	T	-0.501887	0.00558	T	-0.539254	0.18370	T	0.201755300164223	0.20512	T	0.538946	0.18179	T	0.15021877	0.34208	0.20427191	0.44543	0.15021877	0.34208	0.20427191	0.44542	-3.175	0.12177	T	.	.	0.134	0.29172	B	.	.	3.032434	0.40627	21.2	0.99172381963764689	0.54441	0.24333	0.22361	N	ALL	0.095873	0.19364	N	0.0750600097214143	0.45300	2.788953	0.0905123175035551	0.44071	2.695909	0.99999999999602	0.74766	0.369785	0.05700	0	0.475579	0.06741	0	0.519653	0.09787	0	0.249971	0.05119	0	.	.	4.54	2.64	0.30504	2.434000	0.44460	2.015000	0.30182	0.543000	0.25316	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.1417:0.4736:0.3847:0.0	6.782	0.22835	929	0.16858	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	415.33	35	chr18	6729915	.	C	G	415.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.16;DP=717;ExcessHet=0;FS=4.615;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.44;ReadPosRankSum=-1.707;SOR=1.627	GT:AD:DP:GQ:PL	0/1:26,18:44:99:429,0,625	18	0	1	0
chr18	9887397	9887397	C	0	exonic	TXNDC2	.	.	.	.	477	317	422	139	167	867	0.524738	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4211	121308.0	599	chr18	9887397	.	C	*	121308.0	.	AC=16;AF=0.421;AN=38;BaseQRankSum=2.27;DP=10943;ExcessHet=0.0506;FS=0;InbreedingCoeff=0.3091;MLEAC=16;MLEAF=0.421;MQ=59.34;MQRankSum=1.04;QD=14.78;ReadPosRankSum=0.235;SOR=0.697	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:11,168:440:99:.:.:13490,7320,9657:.	6	3	10	0
chr18	14757831	14757831	G	T	exonic	ANKRD30B	.	nonsynonymous SNV	ANKRD30B:NM_001367607:exon5:c.G634T:p.A212S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.376	0.570040324917	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.37118	T	0.339	0.18071	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	2.57	0.75187	M	-1.38	0.80301	T	-0.42	0.14193	N	0.566	0.58968	-0.4076	0.71787	T	0.587	0.85189	D	9	0.9252491	0.91874	D	0.57004	0.96108	D	0.376	0.69443	0.808	0.92512	0.66126974013	0.65843	0.1900994497287423	0.18927	0.221710870317	0.24707	0.869276642799	0.92464	D	0.006977	0.06403	T	0.0438145	0.57542	T	-0.17484	0.56999	T	0.532230496406555	0.33816	D	0.753825	0.37593	T	0.056235686	0.11037	0.07097188	0.15143	0.056235686	0.11036	0.07097188	0.15142	-8.286	0.63002	D	.	.	0.420	0.60678	A	.	.	2.583542	0.33503	19.36	0.98868599652892852	0.47597	0.41543	0.26680	N	AEFGBI	0.073603	0.14728	N	-0.0627749115064627	0.39034	2.295477	-0.336183010928242	0.26939	1.49148	8.05727505473246E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.971	0.971	0.18818	3.688000	0.54430	.	.	0.343000	0.19815	1.000000	0.71638	0.191000	0.23496	0.005000	0.06747	0.0:0.0:1.0:0.0	5.280	0.14980	929	0.16858	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1404.33	36	chr18	14757831	.	G	T	1404.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.822;DP=726;ExcessHet=0;FS=3.937;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.33;ReadPosRankSum=-0.559;SOR=1.11	GT:AD:DP:GQ:PL	0/1:46,52:98:99:1418,0,1115	18	0	1	0
chr18	23437828	23437828	C	T	exonic	TMEM241	.	nonsynonymous SNV	TMEM241:NM_032933:exon1:c.G25A:p.G9S	.	420	1096	6	0	0	6	0.00272975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	0.00674949173653	0.0015	0.000998403	0.0015	0.0001	0.0008	0	0.0032	0.0018	0.0012	0.0021	0.0014359	222	154602	rs141175653	0.0020	0.0020	0.0021	0.0019	0.0022	0.0020	0.0019	0.0021	0.0021	0.0003	0.0011	0.0015	0	0.0022	0.0016	0.0022	0.0018	0.0017	0.0016	0.0016	0.0016	0.0015	0.0022	0.0014	0.0013	0.0019	0.0018	0.0002	0	0.0015	0.0017	0	0.0040	0	0.0022	0.0014	0.0012	0.406	0.14694	T	0.348	0.34596	T	0.931	0.51899	P	0.155	0.34417	B	0.000160	0.49130	N	0.142496	0.988695	0.40811	D	1.63	0.41750	L	0.88	0.46028	T	-1.55	0.37566	N	0.238	0.36254	-1.0803	0.07291	T	0.057	0.23828	T	10	0.011115015	0.00244	T	0.006749	0.17840	T	0.167	0.42761	.	.	0.532938547298	0.52943	0.6941257421589175	0.69353	0.152049090641	0.17156	0.422081172466	0.28122	T	0.002329	0.01729	T	-0.427896	0.01526	T	-0.392346	0.34276	T	0.0600212924416485	0.07173	T	0.792821	0.43457	T	0.09366622	0.22004	0.13118826	0.31506	0.09366622	0.22004	0.13118826	0.31506	-9.121	0.68472	D	.	.	0.129	0.29887	B	.;.;.;.	.;.;.;.	3.200237	0.43516	21.7	0.97465917712008121	0.34110	0.70908	0.34787	D	AEFDGBHCI	0.196390	0.32337	N	-0.00767630048463162	0.41508	2.483961	-0.0251124450179937	0.38584	2.275335	0.999999999998273	0.74766	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	5.39	2.6	0.30173	0.907000	0.28154	1.961000	0.29937	0.599000	0.40250	0.926000	0.32145	0.997000	0.33255	0.992000	0.67800	0.145:0.701:0.0:0.154	6.718	0.22500	891	0.26808	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	855.33	38	chr18	23437828	.	C	T	855.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.18;DP=739;ExcessHet=0;FS=5.502;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.4;ReadPosRankSum=-0.552;SOR=1.319	GT:AD:DP:GQ:PL	0/1:55,36:91:99:869,0,1386	18	0	1	0
chr18	31536375	31536375	G	A	exonic	DSG2	.	nonsynonymous SNV	DSG2:NM_001943:exon11:c.G1597A:p.V533I	Arrhythmogenic right ventricular dysplasia 10, Autosomal dominant;Cardiomyopathy, dilated, 1BB	1	1517	3	1	0	5	0.00164528	.	.	.	245257	Arrhythmogenic_right_ventricular_dysplasia_10|Cardiovascular_phenotype|Cardiomyopathy|not_specified|not_provided	MONDO:MONDO:0012434,MedGen:C1857777,OMIM:610193|MedGen:CN230736|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.082	0.017086688745	8.3e-05	0.000199681	0.0003	0.0002	0.0002	0.0033	0	6.003e-05	0.0011	0.0001	0.0002587	40	154602	rs199761749	0.0002	0.0002	0.0002	0.0002	0.0043	0.0002	0.0002	0.0037	0.0035	0.0003	0.0002	3.826e-05	0.0043	3.746e-05	0.0002	5.845e-05	0.0002	0.0002	0.0001	0.0001	0.0001	0.0001	0.0023	9.145e-05	7.701e-05	0.0013	0.0010	4.815e-05	0	6.535e-05	0	0.0023	0	0	5.881e-05	0.0009	0	0.578	0.06030	T	0.87	0.03314	T	0.073	0.24078	B	0.008	0.13708	B	0.041283	0.23965	N	0.352028	0.999997	0.08975	N	0.055	0.08163	N	0.49	0.55775	T	-0.11	0.08653	N	0.029	0.00666	-1.0983	0.04303	T	0.093	0.35498	T	10	0.0049951375	0.00107	T	0.017087	0.38644	T	0.082	0.23913	.	.	0.194818534648	0.19098	0.2455775906490049	0.24471	0.0600646549258	0.06680	0.27642005682	0.06999	T	0.116419	0.43575	T	-0.631891	0.00093	T	-0.685682	0.06642	T	0.00163292632988357	0.00017	T	0.675032	0.28342	T	0.04313335	0.06669	0.04012004	0.04263	0.04313335	0.06669	0.04012004	0.04263	-3.633	0.18335	T	0.06186461213943439	0.01796	0.067	0.02578	B	.	.	0.163329	0.05536	1.995	0.8030584226696561	0.13141	0.01476	0.04917	N	AEFBHI	0.046662	0.07772	N	-1.19878195485836	0.05019	0.2278236	-1.24210282182283	0.05249	0.249651	0.885863125386524	0.25728	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.89	-2.89	0.05326	0.025000	0.13469	-0.680000	0.07891	-0.106000	0.15538	0.002000	0.15269	0.000000	0.08366	0.570000	0.30651	0.3985:0.0:0.6015:0.0	12.643	0.56083	702	0.57624	.	.	.	.	.	.	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	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	1360.33	33	chr18	31536375	.	G	A	1360.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.022;DP=732;ExcessHet=0;FS=2.582;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.47;ReadPosRankSum=-0.167;SOR=0.968	GT:AD:DP:GQ:PL	0/1:48,53:101:99:1374,0,1210	18	0	1	0
chr18	31541297	31541297	G	A	exonic	DSG2	.	nonsynonymous SNV	DSG2:NM_001943:exon13:c.G1984A:p.A662T	Arrhythmogenic right ventricular dysplasia 10, Autosomal dominant;Cardiomyopathy, dilated, 1BB	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.426	0.0891150511824	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1186896680	1.368e-06	1.368e-06	2.723e-06	0	2.236e-05	2.3e-07	9e-08	.	.	0	2.236e-05	0	0	0	0	8.995e-07	0	0	6.575e-06	6.568e-06	1.285e-05	0	6.549e-05	0	0	.	.	0	0	6.549e-05	0	0	0	0	0	0	0	0.0	0.91255	D	0.021	0.58089	D	1.0	0.90584	D	0.999	0.92359	D	0.000006	0.62929	D	0.000000	0.999817	0.49394	D	3.05	0.86762	M	-0.92	0.75108	T	-3.52	0.68412	D	0.56	0.58458	0.372	0.88677	D	0.658	0.88122	D	10	0.69900656	0.72324	D	0.089115	0.75265	D	0.426	0.73372	0.21	0.12781	0.956247277456	0.95578	0.9288824395156199	0.92866	0.414509619234	0.42131	0.434575915337	0.29834	T	0.621993	0.88164	D	0.0720377	0.61095	D	-0.051434	0.66924	D	0.993339002132416	0.84094	D	0.858914	0.54988	D	0.6406292	0.74865	0.679	0.81137	0.6406292	0.74866	0.679	0.81138	-8.715	0.65844	D	0.8609242873125713	0.92441	0.562	0.67302	A	.	.	4.707566	0.75589	26.4	0.99913393119932348	0.98238	0.99258	0.93561	D	AEFBI	0.734853	0.68086	D	0.925276561188041	0.92941	11.723	0.887186071652214	0.94988	13.21417	0.999999990424555	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.86	5.86	0.93936	6.638000	0.74166	11.800000	0.96626	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:1.0:0.0	20.563	0.99337	702	0.57624	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4444	3348.45	99	chr18	31541297	.	G	A	3348.45	.	AC=16;AF=0.444;AN=36;BaseQRankSum=-0.192;DP=1152;ExcessHet=25.4433;FS=375.107;InbreedingCoeff=-0.7874;MLEAC=17;MLEAF=0.472;MQ=60;MQRankSum=0;QD=3.6;ReadPosRankSum=1.09;SOR=12.356	GT:AD:DP:GQ:PL	0/1:26,29:58:99:236,0,477	2	0	16	1
chr18	45663865	45663865	G	A	exonic	SLC14A2	.	nonsynonymous SNV	SLC14A2:NM_007163:exon11:c.G1432A:p.V478I,SLC14A2:NM_001242692:exon12:c.G1432A:p.V478I,SLC14A2:NM_001371319:exon15:c.G1432A:p.V478I	.	399	1122	1	0	0	1	0.000445434	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.0076056943464	0.0018	.	0.0014	0.0001	0.0013	0	0.0005	0.0020	0	0.0011	0.0014553	225	154602	rs150313115	0.0024	0.0024	0.0025	0.0023	0.0028	0.0023	0.0023	0.0027	0.0027	0.0003	0.0008	0.0016	0	0.0003	0.0007	0.0028	0.0023	0.0012	0.0014	0.0014	0.0016	0.0013	0.0028	0.0013	0.0012	0.0024	0.0023	0.0003	0	0.0004	0.0012	0	0	0	0.0028	0.0009	0.0008	0.06	0.37326	T	0.354	0.17268	T	0.005	0.12996	B	0.005	0.11217	B	0.271488	0.15119	N	0.629214	0.887842	0.27935	N	2.295	0.65404	M	1.29	0.35775	T	-0.02	0.07299	N	0.214	0.23884	-1.0359	0.18575	T	0.090	0.34683	T	10	0.014525443	0.00305	T	0.007606	0.20192	T	0.069	0.20116	.	.	0.0551355673512	0.04727	0.4659877895542462	0.46517	0.167689513179	0.18908	0.34398496151	0.17033	T	0.144645	0.48138	T	-0.527335	0.00398	T	-0.533935	0.18895	T	0.0195424297055923	0.00658	T	.	.	.	0.0354843	0.04184	0.054159045	0.09262	0.0354843	0.04184	0.054159045	0.09261	-3.507	0.16529	T	.	.	0.081	0.08081	B	.;.	.;.	2.761019	0.36214	20.2	0.99739897002858979	0.83409	0.73877	0.36135	D	AEFBI	0.158108	0.28372	N	-0.061269694468375	0.39100	2.300471	0.0537772868847524	0.42254	2.552615	0.999835688219983	0.43792	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.52	4.46	0.53567	2.894000	0.48339	8.432000	0.77174	-0.108000	0.15293	0.995000	0.38783	1.000000	0.68203	0.098000	0.18187	0.1054:0.0:0.8946:0.0	10.126	0.41823	971	0.05719	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002016	0.000000	0.001359	0.000000	0.000000	0.000000	0.003067	0.000000	0.02632	622.33	35	chr18	45663865	.	G	A	622.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.431;DP=686;ExcessHet=0;FS=2.485;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.24;ReadPosRankSum=-0.075;SOR=0.962	GT:AD:DP:GQ:PL	0/1:21,26:47:99:636,0,497	18	0	1	0
chr18	45672939	45672939	G	A	exonic	SLC14A2	.	nonsynonymous SNV	SLC14A2:NM_007163:exon17:c.G2269A:p.G757S,SLC14A2:NM_001242692:exon18:c.G2269A:p.G757S,SLC14A2:NM_001371319:exon21:c.G2269A:p.G757S	.	424	1093	5	0	0	5	0.00228206	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.364	.	0.0007	0.00559105	0.0033	0.0004	0.0004	0.0001	0.0002	0.0011	0.0088	0.0189	0.0029301	453	154602	rs142459777	0.0020	0.0020	0.0015	0.0025	0.0177	0.0019	0.0019	0.0170	0.0167	0.0003	0.0002	0	5.038e-05	0.0003	0.0005	0.0011	0.0021	0.0177	0.0013	0.0013	0.0011	0.0015	0.0216	0.0011	0.0011	0.0182	0.0170	0.0002	0	0.0003	0	0.0004	0	0	0.0011	0.0005	0.0216	0.033	0.44358	D	0.045	0.49390	D	0.949	0.53761	P	0.685	0.53610	P	0.000255	0.46924	N	0.092755	0.999543	0.49177	D	2.16	0.60381	M	0.74	0.50459	T	-3.97	0.73684	D	0.655	0.66529	-0.6466	0.62861	T	0.238	0.60607	T	10	0.015065521	0.00316	T	.	.	.	0.364	0.68407	.	.	0.48461828368	0.48093	0.9611278262397311	0.96098	0.203956626658	0.22808	0.738605201244	0.72766	T	0.458092	0.79620	T	-0.219505	0.18060	T	-0.0731433	0.65401	T	0.0289260090185013	0.01825	T	.	.	.	0.7970701	0.83719	0.78373677	0.87258	0.7970701	0.83721	0.78373677	0.87259	-11.521	0.82440	D	.	.	0.224	0.46121	B	.;.	.;.	4.516141	0.70766	25.6	0.99779546764078131	0.86606	0.98241	0.80848	D	AEFDGBI	0.936743	0.93351	D	0.582003923542698	0.72054	5.745417	0.575741600888398	0.73207	5.932574	0.999999999833211	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.79	4.92	0.64147	7.778000	0.84271	6.706000	0.56386	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0695:0.0:0.9305:0.0	14.644	0.68345	974	0.05496	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.000000	0.001359	0.005848	0.000000	0.008621	0.000000	0.015152	0.02632	1619.33	42	chr18	45672939	.	G	A	1619.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.83;DP=840;ExcessHet=0;FS=1.409;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=-0.356;SOR=0.6	GT:AD:DP:GQ:PL	0/1:69,59:128:99:1633,0,1632	18	0	1	0
chr18	49902703	49902703	C	T	exonic	MYO5B	.	nonsynonymous SNV	MYO5B:NM_001080467:exon21:c.G2702A:p.R901Q	Microvillus inclusion disease, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	879326	Inborn_genetic_diseases|MYO5B-related_disorder|not_provided|Congenital_microvillous_atrophy	MeSH:D030342,MedGen:C0950123|.|MedGen:C3661900|MONDO:MONDO:0009635,MedGen:C0341306,OMIM:251850,Orphanet:2290	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.075	0.0181130439631	0.0002	0.00139776	0.0009	0	0.0002	0	0	0.0001	0.0011	0.0061	0.0008085	125	154602	rs199782770	0.0005	0.0005	0.0003	0.0007	0.0056	0.0004	0.0004	0.0052	0.0050	0	0	0	2.519e-05	9.742e-05	0.0005	0.0002	0.0004	0.0056	0.0002	0.0002	0.0001	0.0003	0.0041	0.0001	0.0001	0.0027	0.0023	4.81e-05	0	0	0	0	9.411e-05	0	8.821e-05	0	0.0041	0.152	0.24468	T	0.1	0.38742	T	0.051	0.22415	B	0.061	0.26820	B	0.091391	0.20328	N	0.483097	0.873627	0.35611	D	1.78	0.46185	L	1.45	0.32482	T	-2.15	0.48687	N	0.084	0.06059	-1.0400	0.17313	T	0.078	0.31012	T	10	0.00918448	0.00207	T	0.018113	0.40062	T	0.075	0.21907	.	.	0.252162846088	0.24830	0.15015893288584448	0.14937	0.176405578011	0.19857	0.228121072054	0.01831	T	0.096501	0.39838	T	-0.586602	0.00176	T	-0.613747	0.11682	T	0.690129339694977	0.40254	D	0.672833	0.32195	T	0.030323487	0.02677	0.09859294	0.23511	0.03871455	0.05211	0.09442644	0.22350	-5.012	0.36970	T	0.1967918698673201	0.26005	0.069	0.02960	B	.;.	.;.	1.155953	0.15446	11.85	0.95596854700337464	0.27326	0.11172	0.16456	N	AEFDBI	0.129138	0.24719	N	-1.29229384194057	0.03767	0.1688757	-1.40309239081237	0.03221	0.1498007	0.25322388405615	0.18702	0.713056	0.82018	0	0.627178	0.54094	0	0.608524	0.38960	0	0.564101	0.26826	0	.	.	5.63	-6.62	0.01646	0.021000	0.13381	-1.276000	0.05839	-0.834000	0.02848	0.002000	0.15269	0.000000	0.08366	0.034000	0.13613	0.0:0.8264:0.0:0.1736	19.987	0.97354	926	0.17793	IQ motif, EF-hand binding site|IQ motif, EF-hand binding site|IQ motif, EF-hand binding site;IQ motif, EF-hand binding site|IQ motif, EF-hand binding site|IQ motif, EF-hand binding site	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	3319.33	38	chr18	49902703	.	C	T	3319.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.5;DP=931;ExcessHet=0;FS=0.45;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.77;ReadPosRankSum=-0.114;SOR=0.657	GT:AD:DP:GQ:PL	0/1:126,134:260:99:3333,0,2884	18	0	1	0
chr18	59347527	59347527	G	A	exonic	LMAN1	.	nonsynonymous SNV	LMAN1:NM_005570:exon7:c.C808T:p.P270S	Combined factor V and VIII deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.216	0.0239750997555	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.372e-06	1.368e-06	1.365e-06	1.379e-06	1.802e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.802e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.37750	T	0.08	0.41913	T	0.381	0.34388	B	0.038	0.23361	B	0.000002	0.62929	D	0.104882	1	0.81001	D	1.98	0.53716	M	0.34	0.58176	T	-3.42	0.67241	D	0.634	0.64733	-0.9029	0.47684	T	0.154	0.48412	T	10	0.47330776	0.59993	T	0.023975	0.46960	T	0.216	0.50959	0.264	0.20946	0.819483537445	0.81778	0.5064545664791593	0.50567	0.205324008835	0.22955	0.628649711609	0.56953	T	0.578053	0.86138	D	0.115008	0.65868	D	-0.072576	0.65442	T	0.957061886787415	0.64915	D	0.943906	0.78806	D	0.38014275	0.59327	0.3449876	0.60188	0.38014275	0.59327	0.3449876	0.60188	-7.919	0.60517	D	.	.	0.251	0.48531	B	.	.	4.276600	0.65116	24.8	0.99576078446312799	0.72682	0.99503	0.96817	D	AEFGBI	0.929119	0.91438	D	0.370810896557074	0.59845	4.16759	0.516462405447118	0.69096	5.311983	0.999999999988615	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.71	5.71	0.89031	8.898000	0.92168	11.739000	0.95154	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.0:1.0:0.0	17.631	0.88008	912	0.21483	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1344.33	45	chr18	59347527	.	G	A	1344.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.799;DP=981;ExcessHet=0;FS=6.818;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.93;ReadPosRankSum=-1.325;SOR=0.685	GT:AD:DP:GQ:PL	0/1:68,55:123:99:1358,0,1789	18	0	1	0
chr18	62187755	62187755	G	T	exonic	RELCH	.	nonsynonymous SNV	RELCH:NM_001346229:exon1:c.G250T:p.G84C,RELCH:NM_001346230:exon1:c.G250T:p.G84C,RELCH:NM_001346231:exon1:c.G250T:p.G84C,RELCH:NM_001346233:exon1:c.G250T:p.G84C,RELCH:NM_001346234:exon1:c.G250T:p.G84C,RELCH:NM_020854:exon1:c.G250T:p.G84C	.	0	224	2	0	0	2	0.00444444	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.0634180674736	.	0.000199681	0.0002	0	0.0001	0.0023	0	2.025e-05	0	0.0003	0.0001423	22	154602	rs562549635	0.0001	0.0001	0.0001	0.0001	0.0032	0.0001	9.916e-05	0.0027	0.0026	0	4.511e-05	0	0.0032	0	0.0003	2.431e-05	9.964e-05	0.0001	5.251e-05	5.249e-05	0.0001	0	0.0012	2.555e-05	1.828e-05	0.0005	0.0003	2.404e-05	0	0	0	0.0012	0	0	0	0	0.0002	0.027	0.46513	D	0.048	0.48594	D	0.858	0.47274	P	0.629	0.51727	P	0.023411	0.26448	U	0.306668	0.797567	0.29153	N	.	.	.	0.88	0.46028	T	-2.24	0.50175	N	0.209	0.23884	-1.0392	0.17556	T	0.080	0.31824	T	9	0.012226403	0.00264	T	0.063418	0.68962	D	0.046	0.12618	0.308	0.27967	0.0675242888579	0.06100	0.5442356611789002	0.54349	1.04843531002	0.76047	0.682005286217	0.64557	T	0.054538	0.29751	T	-0.479576	0.00743	T	-0.497033	0.22657	T	0.121625632663986	0.14587	T	0.723828	0.33737	T	0.16367269	0.36525	0.13797472	0.32964	0.16367269	0.36524	0.13797472	0.32964	-7.485	0.57737	T	.	.	0.089	0.19398	B	.;.;.	.;.;.	3.483029	0.48648	22.6	0.99288521795281992	0.58184	0.62969	0.31944	D	AEFDGBCI	0.213776	0.33932	N	-0.4343660443733	0.24273	1.309467	-0.365342377305534	0.26038	1.435726	0.999999832147054	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	5.29	2.16	0.26663	2.588000	0.45802	0.707000	0.20898	-0.244000	0.07312	1.000000	0.71638	0.668000	0.26052	0.878000	0.41950	0.08:0.1218:0.3506:0.4477	4.077	0.09386	973	0.05605	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1353.33	37	chr18	62187755	.	G	T	1353.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.41;DP=737;ExcessHet=0;FS=0.896;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.58;ReadPosRankSum=1.04;SOR=0.572	GT:AD:DP:GQ:PL	0/1:28,49:77:99:1367,0,862	18	0	1	0
chr18	65824683	65824683	C	G	exonic	CDH7	.	nonsynonymous SNV	CDH7:NM_001317214:exon6:c.C833G:p.A278G,CDH7:NM_001362438:exon6:c.C833G:p.A278G,CDH7:NM_004361:exon6:c.C833G:p.A278G,CDH7:NM_033646:exon6:c.C833G:p.A278G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.00490096248541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.072800	0.21387	N	0.451193	0.982979	0.39957	D	-3.075	0.00011	N	1.84	0.24656	T	3.87	0.00076	N	0.227	0.25499	-0.9038	0.47583	T	0.008	0.02884	T	10	0.04493016	0.03505	T	0.004901	0.12318	T	0.155	0.40530	0.546	0.66015	0.15499578495	0.15088	0.21276109158363124	0.21192	0.352591177131	0.37089	0.615600824356	0.55106	T	0.044351	0.26789	T	-0.291422	0.09494	T	-0.656384	0.08512	T	0.0723997502850542	0.08984	T	0.824517	0.48627	T	0.09681208	0.22810	0.12931228	0.31094	0.09681208	0.22809	0.12931228	0.31094	3.359	0.00015	T	.	.	0.078	0.06663	B	.;.;.	.;.;.	2.090507	0.26594	17.17	0.15872056406126045	0.00404	0.74711	0.36555	D	AEFDGBI	0.136260	0.25686	N	-0.923050984542219	0.10304	0.4917672	-0.581236897984816	0.19982	1.074571	0.870688873629593	0.25410	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.65	3.76	0.42368	1.558000	0.35917	3.329000	0.37611	0.589000	0.31548	0.946000	0.32893	0.998000	0.33993	0.969000	0.54022	0.0:0.7002:0.2998:0.0	13.494	0.60866	994	0.00715	Cadherin-like;Cadherin-like;Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4737	3265.29	67	chr18	65824683	.	C	G	3265.29	.	AC=18;AF=0.474;AN=38;BaseQRankSum=0.376;DP=1741;ExcessHet=38.2876;FS=194.625;InbreedingCoeff=-0.8995;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=2.24;ReadPosRankSum=1.26;SOR=12.236	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,26:99:99:0|1:65824683_C_G:128,0,1475:65824683	1	0	18	0
chr18	69010950	69010950	A	G	exonic	CCDC102B	.	nonsynonymous SNV	CCDC102B:NM_024781:exon7:c.A1280G:p.Q427R,CCDC102B:NM_001093729:exon9:c.A1280G:p.Q427R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.00125224316485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.768e-06	2.736e-06	2.754e-06	2.783e-06	3.627e-06	6.5e-07	4.4e-07	8.5e-07	5.7e-07	0	0	0	0	0	0	3.627e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.414	0.10020	T	0.632	0.07150	T	0.936	0.52359	P	0.512	0.47969	P	0.004726	0.33446	N	0.137391	0.995213	0.23345	N	-0.35	0.03145	N	2.97	0.09450	T	0.71	0.02130	N	0.098	0.07949	-0.9227	0.45182	T	0.015	0.06234	T	10	0.13157666	0.25043	T	0.001252	0.01683	T	0.126	0.34673	.	.	0.32580497728	0.32196	0.07055804335413594	0.06992	0.0289947564145	0.02989	0.335702776909	0.15794	T	6.36E-4	0.00271	T	-0.322619	0.06685	T	-0.701196	0.05761	T	0.692678391933441	0.40372	D	0.417158	0.10968	T	0.06757463	0.14646	0.09065902	0.21273	0.06757463	0.14646	0.09065902	0.21273	-1.577	0.01929	T	.	.	0.098	0.16407	B	.;.	.;.	2.295965	0.29372	18.10	0.91194015925448635	0.20449	0.68988	0.34012	D	AEFGI	0.161287	0.28733	N	-0.138249091604451	0.35737	2.056456	-0.0816055136206166	0.36151	2.100196	0.0161922610345178	0.12803	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.4	4.21	0.48984	4.389000	0.59403	0.297000	0.16936	0.756000	0.94297	1.000000	0.71638	0.000000	0.08366	0.961000	0.51904	0.8174:0.1826:0.0:0.0	9.236	0.36629	965	0.07246	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	651.33	33	chr18	69010950	.	A	G	651.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.195;DP=721;ExcessHet=0;FS=3.878;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.86;ReadPosRankSum=-0.788;SOR=1.402	GT:AD:DP:GQ:PL	0/1:33,27:60:99:665,0,869	18	0	1	0
chr19	856130	856130	C	T	exonic	ELANE	.	nonsynonymous SNV	ELANE:NM_001972:exon5:c.C770T:p.P257L	Neutropenia, cyclic, Autosomal dominant;Neutropenia, severe congenital 1, autosomal dominant, Autosomal dominant	0	1484	37	1	0	39	0.0129697	.	.	.	257299	Neutropenia,_severe_congenital,_1,_autosomal_dominant|Cyclical_neutropenia|Autoinflammatory_syndrome|not_provided|not_specified	MONDO:MONDO:0042490,MedGen:C1859966,OMIM:202700|Human_Phenotype_Ontology:HP:0040289,MONDO:MONDO:0008090,MedGen:C0221023,OMIM:162800,Orphanet:2686|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.122	.	0.0077	0.00519169	0.0060	0.0013	0.0064	0	0.0008	0.0081	0.0079	0.0057	0.0061448	950	154602	rs17216663	0.0076	0.0076	0.0075	0.0077	0.0107	0.0075	0.0074	0.0086	0.0082	0.0017	0.0083	0.0127	0	0.0012	0.0107	0.0084	0.0073	0.0056	0.0059	0.0059	0.0062	0.0055	0.0091	0.0055	0.0054	0.0085	0.0082	0.0013	0.0011	0.0088	0.0078	0	0.0008	0.0102	0.0091	0.0090	0.0064	0.008	0.58626	D	0.197	0.27855	T	0.01	0.15535	B	0.002	0.06944	B	.	.	.	.	0.979218	0.25197	N	1.385	0.34509	L	-2.47	0.88997	D	-0.97	0.25770	N	0.191	0.20925	-0.6932	0.60759	T	0.330	0.69792	T	9	0.0060737133	0.00136	T	.	.	.	0.122	0.33800	.	.	0.629560987919	0.62653	0.5437504112375167	0.54301	0.564959735949	0.52855	0.355158269405	0.18679	T	0.333962	0.70375	T	-0.329213	0.06171	T	-0.236273	0.51162	T	0.0222328351555962	0.00935	T	0.381362	0.09225	T	0.05828733	0.11709	0.09174262	0.21584	0.054917492	0.10601	0.0659258	0.13431	-4.083	0.25039	T	.	.	0.096	0.15206	B	.;.	.;.	1.513561	0.19439	14.26	0.90103442402545098	0.19385	0.10613	0.16070	N	AEFGBI	0.063733	0.12334	N	-0.993156792222934	0.08749	0.4114283	-1.01747891032933	0.09401	0.4675117	0.0713684615949456	0.15564	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	3.57	1.22	0.20300	0.526000	0.22680	1.601000	0.27583	0.473000	0.21965	0.001000	0.13787	0.016000	0.20520	0.027000	0.12703	0.0:0.6614:0.2123:0.1263	5.208	0.14623	994	0.00715	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.009567	0.005051	0.010870	0.011696	0.050000	0.008621	0.012195	0.007576	0.05263	3165.83	34	chr19	856130	.	C	T	3165.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.728;DP=839;ExcessHet=0.119;FS=2.316;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.26;ReadPosRankSum=-0.167;SOR=0.854	GT:AD:DP:GQ:PL	0/1:45,67:112:99:1772,0,1096	17	0	2	0
chr19	1828149	1828149	G	A	exonic	REXO1	.	nonsynonymous SNV	REXO1:NM_020695:exon2:c.C640T:p.R214C	.	424	1091	6	1	0	8	0.00365297	.	.	.	2815115	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.055	0.0246311298593	0.0065	0.00179712	0.0064	0.0005	0.0011	0.0001	0.0068	0.0098	0.0012	0.0038	0.0057761	893	154602	rs77108843	0.0068	0.0068	0.0070	0.0067	0.0078	0.0067	0.0067	0.0077	0.0076	0.0007	0.0010	0.0059	0.0001	0.0087	0.0009	0.0078	0.0049	0.0031	0.0045	0.0045	0.0048	0.0041	0.0076	0.0042	0.0041	0.0071	0.0069	0.0010	0	0.0014	0.0037	0.0002	0.0060	0	0.0076	0.0024	0.0035	0.002	0.72154	D	0.061	0.45530	T	0.013	0.16609	B	0.002	0.06944	B	0.057715	0.22459	N	0.275195	0.999998	0.08975	N	1.975	0.53506	M	2.61	0.13095	T	-2.0	0.46146	N	0.354	0.39558	-1.0791	0.07524	T	0.048	0.20355	T	10	0.0056836903	0.00126	T	0.024631	0.47617	T	0.055	0.15663	.	.	0.232442253697	0.22838	0.1847945718327867	0.18397	0.571528777169	0.53278	0.408511221409	0.26250	T	0.019501	0.15525	T	-0.459747	0.00987	T	-0.426915	0.30286	T	0.02719478342435	0.01572	T	0.875712	0.58780	D	0.15696128	0.35393	0.07081009	0.15091	0.15696128	0.35393	0.07081009	0.15090	-6.044	0.46646	T	.	.	0.100	0.17317	B	.	.	3.880322	0.56390	23.7	0.99862063948522239	0.94002	0.59658	0.30976	D	AEFDBCI	0.256553	0.37545	N	-0.154604325981079	0.35039	2.007625	-0.243147942033992	0.30007	1.685927	0.312812565929294	0.19304	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	4.05	1.83	0.24279	3.337000	0.51838	6.506000	0.55795	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.445000	0.27784	0.1007:0.1497:0.4425:0.3071	2.445	0.04230	958	0.09170	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.004028	0.000000	0.001359	0.002924	0.000000	0.000000	0.015244	0.000000	0.02632	1669.33	35	chr19	1828149	.	G	A	1669.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.355;DP=759;ExcessHet=0;FS=5.356;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.03;ReadPosRankSum=0.979;SOR=0.336	GT:AD:DP:GQ:PL	0/1:35,63:98:99:1683,0,830	18	0	1	0
chr19	3179886	3179886	G	T	exonic	S1PR4	.	nonsynonymous SNV	S1PR4:NM_003775:exon1:c.G1094T:p.R365L	.	426	1071	23	2	0	27	0.0124481	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.317	.	0.0051	0.00758786	0.0073	0.0009	0.0068	0.0169	0.0015	0.0072	0.0092	0.0097	0.0070892	1096	154602	rs3746072	0.0078	0.0078	0.0077	0.0080	0.0279	0.0077	0.0077	0.0265	0.0260	0.0008	0.0083	0.0076	0.0279	0.0027	0.0100	0.0074	0.0079	0.0099	0.0067	0.0067	0.0067	0.0066	0.0188	0.0063	0.0062	0.0158	0.0147	0.0014	0	0.0104	0.0089	0.0188	0.0023	0	0.0085	0.0109	0.0096	0.111	0.29029	T	0.357	0.17115	T	0.956	0.54666	P	0.421	0.45113	B	0.429652	0.12764	N	0.704329	0.999997	0.08975	N	2.24	0.63355	M	-1.51	0.81399	D	-0.9	0.24244	N	0.169	0.17966	-0.8482	0.52093	T	0.191	0.54286	T	10	0.0041588843	0.00082	T	.	.	.	0.317	0.63904	.	.	0.673373174604	0.67061	0.564520091980595	0.56379	0.520053127806	0.49812	0.707280218601	0.68198	T	0.11485	0.43298	T	-0.294597	0.09179	T	-0.181664	0.56369	T	0.0259824680036602	0.01403	T	0.644036	0.25562	T	0.18535873	0.39896	0.22214901	0.47049	0.18535873	0.39895	0.22214901	0.47048	-2.998	0.10159	T	.	.	0.253	0.48725	B	.	.	2.147419	0.27353	17.43	0.98146009376575305	0.38647	0.13145	0.17689	N	AEFDBHCI	.	.	.	-0.388218661261633	0.25887	1.408693	-0.494609765323304	0.22301	1.210653	0.999999999070413	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	3.94	3.94	0.44807	0.307000	0.19048	8.054000	0.76369	0.575000	0.29119	0.000000	0.06391	1.000000	0.68203	0.046000	0.14843	0.0:0.1823:0.8177:0.0	11.574	0.50105	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007553	0.005051	0.004076	0.008772	0.050000	0.008621	0.018293	0.026515	0.02632	1799.33	35	chr19	3179886	.	G	T	1799.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.63;DP=804;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.51;ReadPosRankSum=0.593;SOR=0.703	GT:AD:DP:GQ:PL	0/1:56,68:124:99:1813,0,1282	18	0	1	0
chr19	4267684	4267684	C	T	exonic	YJU2	.	nonsynonymous SNV	YJU2:NM_018074:exon7:c.C769T:p.R257W	.	424	1086	12	0	0	12	0.00549451	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.0559187771413	0.0038	0.00239617	0.0027	0.0004	0.0026	0	0.0002	0.0042	0.0059	0.0004	0.0030401	470	154602	rs149224144	0.0045	0.0045	0.0046	0.0044	0.0085	0.0044	0.0044	0.0066	0.0059	0.0010	0.0043	0.0145	2.519e-05	0.0003	0.0085	0.0050	0.0049	0.0007	0.0033	0.0033	0.0034	0.0032	0.0056	0.0030	0.0029	0.0047	0.0043	0.0011	0	0.0056	0.0118	0.0002	9.413e-05	0.0103	0.0045	0.0080	0.0002	0.001	0.78490	D	0.002	0.79402	D	0.999	0.77913	D	0.969	0.72001	D	0.008110	0.31013	N	0.331465	1	0.08975	N	.	.	.	1.12	0.38718	T	-3.86	0.72471	D	0.36	0.40164	-0.9606	0.39068	T	0.136	0.45106	T	10	0.0053313375	0.00117	T	0.055919	0.66415	D	0.104	0.29647	.	.	0.653912592101	0.65102	0.3605280921804403	0.35966	0.441904996886	0.44173	0.440458506346	0.30639	T	0.138003	0.47125	T	-0.418518	0.01748	T	-0.368681	0.37043	T	0.0567885823498827	0.06654	T	0.783522	0.42019	T	0.17133884	0.37762	0.13191643	0.31667	0.17133884	0.37762	0.13191643	0.31666	-9.315	0.69701	D	.	.	0.134	0.28920	B	.	.	3.519185	0.49320	22.8	0.99844509020741112	0.92489	0.35260	0.25260	N	AEFDGBHCI	0.407546	0.47958	N	0.0268854939408461	0.43080	2.608024	-0.142578930569859	0.33694	1.930114	0.984373600322735	0.30707	0.631515	0.41029	0	0.697927	0.68747	0	0.779548	0.98927	0	0.699908	0.69081	0	.	.	4.96	1.53	0.22224	2.209000	0.42445	0.621000	0.20131	0.453000	0.21368	0.892000	0.31242	0.000000	0.08366	0.005000	0.06747	0.5208:0.3319:0.0:0.1474	6.275	0.20186	895	0.25842	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.011628	0.020202	0.010899	0.017647	0.000000	0.008621	0.009317	0.000000	0.02632	504.33	36	chr19	4267684	.	C	T	504.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.01;DP=695;ExcessHet=0;FS=2.336;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.34;ReadPosRankSum=1.06;SOR=0.425	GT:AD:DP:GQ:PL	0/1:31,23:54:99:518,0,736	18	0	1	0
chr19	4817681	4817681	C	G	exonic	TICAM1	.	nonsynonymous SNV	TICAM1:NM_001385679:exon2:c.G562C:p.D188H,TICAM1:NM_182919:exon2:c.G697C:p.D233H,TICAM1:NM_001385678:exon3:c.G655C:p.D219H,TICAM1:NM_001385680:exon3:c.G55C:p.D19H	.	0	1520	2	0	0	2	0.000657462	.	.	.	573202	Herpes_simplex_encephalitis,_susceptibility_to,_4	MONDO:MONDO:0013921,MedGen:C3553869,OMIM:614850,Orphanet:1930	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.023	0.00818373280196	.	.	0.0001	0	0	0	0	9.472e-05	0	0.0006	9.06e-05	14	154602	rs141739488	7.123e-05	7.114e-05	5.537e-05	8.737e-05	0.0011	5.968e-05	5.57e-05	0.0005	0.0004	0	0	4.159e-05	0	0	0.0011	4.463e-05	5.068e-05	0.0005	6.572e-05	6.563e-05	9.003e-05	4.032e-05	0.0001	3.517e-05	2.617e-05	6.807e-05	5.09e-05	2.409e-05	0	0	0	0	0	0	0.0001	0	0	0.226	0.18562	T	0.133	0.34359	T	0.031	0.20130	B	0.012	0.16012	B	0.262410	0.03718	N	1.740110	1	0.08975	N	0.755	0.19153	N	0.84	0.47477	T	-0.82	0.22508	N	0.039	0.03841	-1.0386	0.17740	T	0.079	0.31314	T	10	0.038913608	0.02343	T	0.008184	0.21674	T	0.023	0.04649	.	.	0.128874641272	0.12493	.	.	0.263343563485	0.28890	0.341755330563	0.16701	T	0.116188	0.43534	T	-0.574185	0.00209	T	-0.724162	0.04598	T	0.0135087833040097	0.00248	T	0.433257	0.11819	T	0.02901167	0.02329	0.03463913	0.02566	0.02901167	0.02329	0.03463913	0.02566	-3.621	0.18161	T	.	.	0.087	0.18372	B	.;.	.;.	-0.912610	0.00905	0.033	0.85508148488253866	0.15936	0.16334	0.19340	N	AEFDBCI	0.107047	0.21339	N	-1.22073944059147	0.04700	0.2126734	-1.28803800218613	0.04591	0.2169343	0.00118801546671862	0.08314	0.706548	0.73137	0	0.697927	0.68747	0	0.576033	0.28219	0	0.714379	0.83352	0	.	.	4.13	-2.95	0.05229	-0.363000	0.07645	-2.061000	0.04272	-1.003000	0.01794	0.000000	0.06391	0.000000	0.08366	0.026000	0.12556	0.0:0.3105:0.5178:0.1717	7.915	0.28974	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	0.001009	0.000000	0.001359	0.000000	0.000000	0.000000	0.003067	0.000000	0.02632	751.33	37	chr19	4817681	.	C	G	751.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.143;DP=770;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.66;ReadPosRankSum=-2.142;SOR=0.589	GT:AD:DP:GQ:PL	0/1:26,29:55:99:765,0,659	18	0	1	0
chr19	5687976	5687976	G	A	exonic	HSD11B1L	.	nonsynonymous SNV	HSD11B1L:NM_001267870:exon5:c.G557A:p.R186Q	.	410	1111	1	0	0	1	0.000449843	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	0.0003	0	0	0	0	0	0	0.0008	8.41e-05	13	154602	rs544743697	5.067e-05	5.814e-05	3.664e-05	6.508e-05	0.0008	4.096e-05	3.76e-05	0.0006	0.0006	0	5.521e-05	0	0	0	0	2.778e-06	6.891e-05	0.0008	3.939e-05	3.937e-05	2.569e-05	5.37e-05	0.0008	1.714e-05	1.129e-05	0.0003	0.0002	2.405e-05	0	6.537e-05	0	0	0	0	0	0	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999995	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015899777	0.00334	T	.	.	.	.	.	.	.	0.7492080826	0.74694	.	.	.	.	.	.	.	.	.	.	-0.69251	0.00040	T	-0.823867	0.01376	T	.	.	.	0.355164	0.08047	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.25462	B	.	.	0.666997	0.10352	7.082	0.72275789815742175	0.09917	0.03061	0.07965	N	AEFBI	0.027901	0.02361	N	.	.	.	.	.	.	0.999751173422318	0.42595	0.718356	0.82227	0	0.588066	0.40923	0	0.570548	0.19454	0	0.567892	0.33627	0	.	.	1.84	0.787	0.17740	0.897000	0.28022	-0.165000	0.11284	0.526000	0.24426	0.002000	0.15269	0.000000	0.08366	0.006000	0.07323	0.1716:0.0:0.8284:0.0	5.948	0.18464	808	0.43318	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1855.33	36	chr19	5687976	.	G	A	1855.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.47;DP=827;ExcessHet=0;FS=5.943;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.45;ReadPosRankSum=0.763;SOR=1.155	GT:AD:DP:GQ:PL	0/1:91,71:162:99:1869,0,2153	18	0	1	0
chr19	6392895	6392895	G	T	exonic	GTF2F1	.	nonsynonymous SNV	GTF2F1:NM_002096:exon2:c.C21A:p.S7R	.	.	.	.	.	.	.	.	.	.	.	2346482	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.076	0.0228215654832	0.0002	0.000199681	0.0004	0.0002	0	0	0	0.0007	0	0	0.0003558	55	154602	rs151336104	0.0004	0.0004	0.0003	0.0004	0.0004	0.0003	0.0003	0.0004	0.0003	5.974e-05	0.0002	0.0028	2.519e-05	1.872e-05	0.0002	0.0004	0.0006	0	0.0004	0.0004	0.0003	0.0004	0.0007	0.0003	0.0003	0.0005	0.0005	0	0	0.0001	0.0026	0	0	0	0.0007	0	0	0.011	0.55530	D	0.177	0.57587	T	0.305	0.32678	B	0.172	0.35394	B	0.002061	0.37317	N	0.314292	1	0.81001	D	2.28	0.64929	M	0.76	0.49919	T	-2.53	0.54864	D	0.359	0.40063	-0.9995	0.30058	T	0.094	0.35524	T	10	0.025895327	0.00770	T	0.022822	0.45741	T	0.076	0.22200	0.656	0.79379	0.622510390952	0.61944	0.30327391471647935	0.30240	0.540760568797	0.51266	0.432539045811	0.29555	T	0.211104	0.57177	T	-0.336962	0.05601	T	-0.354206	0.38722	T	0.10364954121386	0.12754	T	0.555844	0.19272	T	0.42457727	0.62394	0.33755398	0.59544	0.42457727	0.62395	0.33755398	0.59543	-6.778	0.52395	T	.	.	0.661	0.72340	P	.;.	.;.	3.313838	0.45546	22.1	0.99217682802800755	0.55808	0.77647	0.38202	D	ALL	0.401179	0.47577	N	-0.252807234421069	0.30992	1.733413	-0.147428017505242	0.33508	1.917418	0.999999989105673	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.07	2.86	0.32427	3.281000	0.51389	6.127000	0.53864	-0.263000	0.06870	1.000000	0.71638	1.000000	0.68203	0.656000	0.32857	0.086:0.156:0.758:0.0	8.383	0.31640	776	0.48302	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1941.33	36	chr19	6392895	.	G	T	1941.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.034;DP=745;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.18;ReadPosRankSum=-0.278;SOR=0.732	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:62,51:113:99:0|1:6392895_G_T:1955,0,2432:6392895	18	0	1	0
chr19	6392897	6392897	T	C	exonic	GTF2F1	.	nonsynonymous SNV	GTF2F1:NM_002096:exon2:c.A19G:p.S7G	.	.	.	.	.	.	.	.	.	.	.	2346481	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.081	0.00295828244997	.	0.000199681	0.0004	0.0002	0	0	0	0.0007	0	0	0.0003558	55	154602	rs140541374	0.0004	0.0004	0.0003	0.0004	0.0004	0.0003	0.0003	0.0004	0.0003	5.974e-05	0.0001	0.0028	7.557e-05	1.872e-05	0.0002	0.0004	0.0006	0	0.0004	0.0004	0.0003	0.0004	0.0007	0.0003	0.0003	0.0005	0.0005	0	0	0.0001	0.0026	0	0	0	0.0007	0	0	0.219	0.19023	T	0.276	0.34241	T	0.0	0.02946	B	0.0	0.01387	B	0.002061	0.37317	N	0.314292	0.999348	0.46733	D	1.13	0.28900	L	0.77	0.49642	T	-1.58	0.38151	N	0.174	0.18649	-1.1148	0.02688	T	0.065	0.26878	T	10	0.01716876	0.00365	T	0.002958	0.06309	T	0.081	0.23632	.	.	0.492816438443	0.48917	0.18684741994023205	0.18602	0.226218915231	0.25174	0.372128456831	0.21137	T	0.106817	0.41849	T	-0.499765	0.00573	T	-0.586904	0.13935	T	0.0188766804561544	0.00598	T	0.489851	0.15827	T	0.2635842	0.49423	0.2421069	0.49623	0.2635842	0.49423	0.2421069	0.49622	-3.538	0.16968	T	.	.	0.052	0.00239	B	.;.	.;.	1.464519	0.18873	13.97	0.81667180946445361	0.13800	0.38501	0.26002	N	ALL	0.088555	0.17952	N	-0.869921559787842	0.11562	0.5586754	-0.772120308897472	0.15179	0.7970503	0.999999889310946	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.07	-2.96	0.05212	0.448000	0.21443	-0.262000	0.10418	-0.211000	0.08354	1.000000	0.71638	0.021000	0.20819	0.645000	0.32557	0.0:0.1636:0.0:0.8364	12.372	0.54589	776	0.48302	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	1941.33	36	chr19	6392897	.	T	C	1941.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.176;DP=745;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.18;ReadPosRankSum=-0.129;SOR=0.732	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:62,51:113:99:0|1:6392895_G_T:1955,0,2432:6392895	18	0	1	0
chr19	6392899	6392899	G	A	exonic	GTF2F1	.	nonsynonymous SNV	GTF2F1:NM_002096:exon2:c.C17T:p.P6L	.	.	.	.	.	.	.	.	.	.	.	2346480	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.050	0.00748789490328	0.0003	0.000199681	0.0004	0.0002	0	0	0	0.0007	0	0	0.0003558	55	154602	rs150462935	0.0004	0.0004	0.0003	0.0004	0.0004	0.0003	0.0003	0.0004	0.0003	5.974e-05	0.0001	0.0028	5.038e-05	1.872e-05	0.0002	0.0004	0.0006	0	0.0004	0.0004	0.0003	0.0004	0.0007	0.0003	0.0003	0.0005	0.0005	0	0	0.0001	0.0026	0	0	0	0.0007	0	0	0.008	0.58626	D	0.048	0.48594	D	0.053	0.22573	B	0.015	0.17295	B	0.030059	0.25365	N	0.397846	0.648643	0.32943	D	1.735	0.44892	L	0.87	0.46412	T	-2.22	0.49846	N	0.357	0.39861	-1.0641	0.10760	T	0.065	0.26807	T	10	0.022917926	0.00585	T	0.007488	0.19872	T	0.050	0.13987	.	.	0.620024924115	0.61694	0.19396468991086918	0.19314	0.276881313614	0.30156	0.465507954359	0.34065	T	0.118208	0.43885	T	-0.419732	0.01717	T	-0.4731	0.25184	T	0.103630115115818	0.12752	T	0.842916	0.51943	T	0.27469647	0.50535	0.23672417	0.48951	0.27469647	0.50535	0.23672417	0.48950	-3.719	0.19599	T	.	.	0.118	0.24599	B	.;.	.;.	4.145910	0.62150	24.4	0.99677203396109992	0.78977	0.78272	0.38592	D	AEFDGBHCI	0.436039	0.49642	N	-0.157334907083145	0.34923	1.999557	0.0464779074108789	0.41901	2.525222	0.999999997672757	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.07	5.07	0.68106	2.178000	0.42148	11.535000	0.93106	0.604000	0.46097	1.000000	0.71638	1.000000	0.68203	0.698000	0.34080	0.0:0.0:1.0:0.0	15.469	0.75155	776	0.48302	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1944.33	36	chr19	6392899	.	G	A	1944.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.065;DP=744;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.36;ReadPosRankSum=0.006;SOR=0.702	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:61,51:112:99:0|1:6392895_G_T:1958,0,2408:6392895	18	0	1	0
chr19	6427423	6427423	G	A	exonic	SLC25A41	.	stopgain	SLC25A41:NM_173637:exon5:c.C703T:p.R235X,SLC25A41:NM_001321298:exon6:c.C289T:p.R97X	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00299521	0.0020	0	0.0001	0	0	0	0	0.0145	0.0013195	204	154602	rs552989074	0.0006	0.0007	0.0003	0.0010	0.0106	0.0006	0.0006	0.0100	0.0098	2.993e-05	2.264e-05	0	5.054e-05	0	0.0002	8.11e-06	0.0005	0.0106	0.0004	0.0004	0.0002	0.0005	0.0118	0.0003	0.0003	0.0093	0.0085	0	0	0	0	0.0002	0	0	0	0	0.0118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.22	0.24634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0287981	0.55564	T	0.277985	0.87014	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	8.568144	0.97729	38	0.99681884316337632	0.79307	0.17905	0.20037	N	AEFBI	0.171369	0.29833	N	0.176300804375487	0.50063	3.199985	-0.116859415685605	0.34710	1.999709	0.0592831420296672	0.15157	0.615465	0.37627	0	0.633656	0.55848	0	0.577349	0.28860	0	0.542086	0.14980	0	.	.	4.07	3.02	0.33970	2.054000	0.40961	4.341000	0.43058	0.676000	0.76740	0.021000	0.19753	0.905000	0.28034	0.202000	0.21954	0.0:0.0:0.4946:0.5054	9.895	0.40483	806	0.43582	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	1886.33	38	chr19	6427423	.	G	A	1886.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.703;DP=821;ExcessHet=0;FS=7.466;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.38;ReadPosRankSum=-0.006;SOR=0.922	GT:AD:DP:GQ:PL	0/1:68,73:141:99:1900,0,1639	18	0	1	0
chr19	7870294	7870294	C	T	exonic	PRR36	.	nonsynonymous SNV	PRR36:NM_001190467:exon5:c.G2950A:p.A984T	.	340	1178	4	0	0	4	0.00169492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	.	.	0.00319489	0.0133	0	0	0	0	0.02	.	0	0.0004722	73	154602	rs138896713	0.0082	0.0071	0.0082	0.0082	0.0093	0.0081	0.0080	0.0092	0.0091	0.0010	0.0048	0.0074	0	0.0008	0.0007	0.0093	0.0069	0	0.0043	0.0053	0.0048	0.0039	0.0066	0.0040	0.0039	0.0060	0.0058	0.0014	0	0.0042	0.0060	0	0.0002	0.0063	0.0066	0.0053	0	.	.	.	0.341	0.17964	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.049	0.02088	-1.0388	0.17678	T	0.061	0.25310	T	8	0.003385067	0.00059	T	.	.	.	.	.	.	.	0.0138822411134	0.00435	0.1120410950803723	0.11133	.	.	0.549222052097	0.45748	T	0.020862	0.16347	T	-0.524545	0.00414	T	-0.515861	0.20715	T	0.0226574434323909	0.00983	T	0.349965	0.07784	T	0.06791743	0.14750	0.06589508	0.13421	0.06791743	0.14750	0.06589508	0.13420	-6.932	0.53536	T	.	.	0.143	0.31583	B	.	.	0.500233	0.08693	5.466	0.37704475013879407	0.02500	0.01741	0.05494	N	ALL	0.030969	0.03219	N	-0.907647495592968	0.10662	0.5105892	-1.038936131596	0.08939	0.4420422	0.999896565493851	0.45129	0.839682	0.99964	0	0.607795	0.50457	0	0.736553	0.94036	0	0.562822	0.20929	0	.	.	3.03	0.722	0.17379	-0.575000	0.05953	-2.220000	0.04039	-0.705000	0.03985	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.6997:0.0:0.3003	5.553	0.16388	923	0.18507	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003289	0.000000	0.000000	0.008850	0.000000	0.000000	0.004673	0.000000	0.02632	509.33	50	chr19	7870294	.	C	T	509.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.22;DP=861;ExcessHet=0;FS=0;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.19;ReadPosRankSum=-0.426;SOR=0.627	GT:AD:DP:GQ:PL	0/1:30,20:50:99:523,0,724	18	0	1	0
chr19	7872929	7872929	A	T	exonic	PRR36	.	nonsynonymous SNV	PRR36:NM_001190467:exon4:c.T407A:p.I136N	.	424	1094	4	0	0	4	0.00182482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	.	.	0.00279553	0.0024	0.0072	0	0	0	0.0070	0	0	0.0012354	191	154602	rs147331962	0.0074	0.0071	0.0075	0.0074	0.0088	0.0073	0.0073	0.0087	0.0086	0.0009	0.0039	0.0077	0	0.0009	0.0007	0.0088	0.0063	3.786e-05	0.0046	0.0046	0.0052	0.0041	0.0075	0.0043	0.0042	0.0070	0.0068	0.0016	0	0.0048	0.0081	0	0.0003	0.0136	0.0075	0.0090	0	.	.	.	0.242	0.24264	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.364	0.40565	-1.0195	0.23877	T	0.031	0.13418	T	6	0.005706668	0.00127	T	.	.	.	.	.	.	.	0.252681307341	0.24864	0.036222337537804586	0.03569	.	.	0.429368138313	0.29121	T	0.008611	0.07893	T	-0.581699	0.00188	T	-0.602373	0.12613	T	0.00177726721740528	0.00018	T	0.485551	0.14815	T	0.065106794	0.13880	0.09458222	0.22395	0.065106794	0.13880	0.09458222	0.22394	-2.89	0.09044	T	.	.	0.360	0.57199	A	.	.	1.697124	0.21620	15.28	0.53742489929016324	0.04999	0.03726	0.09019	N	AEFDBCI	0.074310	0.14891	N	-0.974746795697728	0.09145	0.4316298	-1.09056517935586	0.07885	0.3853692	0.99932338971388	0.39149	0.766844	0.99359	0	0.563428	0.19063	0	0.851219	0.99655	0	0.530356	0.10902	0	.	.	2.8	-0.959	0.09816	0.738000	0.25826	2.043000	0.30309	-0.267000	0.06790	0.001000	0.13787	0.067000	0.22148	0.072000	0.16771	0.4252:0.0:0.5748:0.0	5.347	0.15320	917	0.20147	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005764	0.000000	0.009259	0.012346	0.000000	0.000000	0.006173	0.000000	0.02632	914.33	35	chr19	7872929	.	A	T	914.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.342;DP=745;ExcessHet=0;FS=1.036;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.24;ReadPosRankSum=0.098;SOR=0.948	GT:AD:DP:GQ:PL	0/1:24,36:60:99:928,0,569	18	0	1	0
chr19	8697692	8697692	T	C	exonic	ACTL9	.	nonsynonymous SNV	ACTL9:NM_178525:exon1:c.A1010G:p.N337S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.00253526304372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.845e-07	6.84e-07	1.362e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.099	0.38891	T	.	.	.	.	.	.	0.130542	0.18655	N	0.432089	0.739734	0.29747	N	.	.	.	2.83	0.10771	T	-4.4	0.77308	D	0.095	0.07535	-1.0825	0.06871	T	0.035	0.14857	T	10	0.7490698	0.75502	D	0.002535	0.05065	T	0.082	0.23913	0.918	0.98496	0.31501682445	0.31101	0.6925489173997654	0.69194	0.318032334486	0.34034	0.447309404612	0.31577	T	.	.	.	-0.275471	0.11154	T	-0.633471	0.10153	T	0.636651635169983	0.37895	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	0.27493	B	.;.	.;.	1.156351	0.15446	11.86	0.91674057500047135	0.20965	0.45511	0.27555	N	AEFDBI	0.079026	0.15956	N	-0.63874361150759	0.17789	0.9183798	-0.693653757405048	0.17119	0.9088107	0.00632871486259517	0.11188	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.58	2.49	0.29274	-0.051000	0.11840	.	.	0.661000	0.55757	0.000000	0.06391	0.243000	0.23865	0.088000	0.17685	0.0:0.1543:0.0:0.8457	8.303	0.31188	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1907.33	33	chr19	8697692	.	T	C	1907.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.572;DP=754;ExcessHet=0;FS=5.763;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.89;ReadPosRankSum=-1.13;SOR=1.192	GT:AD:DP:GQ:PL	0/1:49,71:120:99:1921,0,1305	18	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	.	.	.	.	.	.	.	.	0.125	7310.79	681	chr19	8888745	.	G	A	7310.79	.	AC=4;AF=0.125;AN=32;BaseQRankSum=-1.188;DP=8858;ExcessHet=4.0268;FS=2.799;InbreedingCoeff=-0.3333;MLEAC=4;MLEAF=0.125;MQ=56.47;MQRankSum=-12.32;QD=1.68;ReadPosRankSum=0.732;SOR=0.824	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:366,29:395:92:.:.:92,0,15588:.	12	0	4	3
chr19	8888746	8888746	T	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon56:c.A40753C:p.T13585P	.	389	1129	2	2	0	6	0.00265018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.243	0.0120267409717	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796543936	6.848e-07	0.0002	1.363e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	8.155e-05	0.0054	7.944e-05	8.377e-05	0.0003	3.999e-05	2.926e-05	3.581e-05	1.462e-05	7.564e-05	0	0.0002	0	0.0003	0.0001	0	4.466e-05	0	0	0.003	0.68238	D	0.008	0.67890	D	.	.	.	.	.	.	.	.	.	.	0.999901	0.19694	N	.	.	.	1.83	0.24841	T	-1.47	0.35991	N	0.343	0.38438	-0.9752	0.36082	T	0.078	0.31224	T	8	0.23827633	0.40944	T	0.012027	0.30231	T	0.243	0.54921	.	.	0.183819452728	0.17975	0.3716080186309978	0.37074	.	.	0.330018043518	0.14937	T	.	.	.	-0.0267869	0.47882	T	-0.276254	0.47187	T	0.55762339756057	0.34765	D	0.381362	0.09225	T	.	.	.	.	.	.	.	.	-9.731	0.72285	D	.	.	0.197	0.41903	B	.	.	1.973733	0.25071	16.63	0.99543563627523812	0.70648	0.56973	0.30255	D	AEFBI	0.258310	0.37687	N	0.00527281236618241	0.42094	2.529898	-0.0874775071530277	0.35907	2.083018	1.07242915990077E-5	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.48	1.26	0.20534	0.979000	0.29098	.	.	0.639000	0.52094	0.948000	0.32982	0.000000	0.08366	0.008000	0.08271	0.2207:0.1276:0.0:0.6517	2.783	0.05037	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	.	.	.	.	.	.	.	.	0.1053	2086.43	696	chr19	8888746	.	T	G	2086.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-1.145;DP=8818;ExcessHet=0.7564;FS=0;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=56.24;MQRankSum=-9.961;QD=0.94;ReadPosRankSum=-3.348;SOR=0.745	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:375,29:404:89:.:.:89,0,15612:.	15	0	4	0
chr19	8888826	8888826	T	0	exonic	MUC16	.	.	.	.	415	770	176	0	161	337	0.102564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4474	423.41	466	chr19	8888826	.	T	*	423.41	.	AC=17;AF=0.447;AN=38;BaseQRankSum=2.69;DP=7860;ExcessHet=48.2876;FS=8.285;InbreedingCoeff=-1;MLEAC=17;MLEAF=0.447;MQ=57.63;MQRankSum=-9.46;QD=0.05;ReadPosRankSum=0.739;SOR=1.296	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:231,75:350:99:0|1:8888826_T_*:2461,0,9471:8888826	2	0	17	0
chr19	8908637	8908637	C	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon23:c.G37574C:p.G12525A	.	425	921	175	1	0	177	0.0876672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.00100971464853	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796118737	0	1.984e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.704e-06	0.0012	0	1.379e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.069	0.35537	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.5	0.02032	T	-1.0	0.26422	N	0.149	0.15187	-1.0489	0.14705	T	0.019	0.07893	T	8	0.14229593	0.27028	T	0.00101	0.01096	T	0.092	0.26621	0.068	0.00352	0.0920862733494	0.08535	0.09297556608109382	0.09229	.	.	0.207300364971	0.00702	T	.	.	.	-0.324618	0.06526	T	-0.704068	0.05606	T	0.128357648849487	0.15229	T	0.250075	0.03765	T	.	.	.	.	.	.	.	.	-9.338	0.69846	D	.	.	0.128	0.27222	B	.	.	0.716944	0.10859	7.536	0.51191884600897364	0.04518	0.02560	0.07095	N	AEFBI	0.024210	0.01462	N	-0.258816728321443	0.30752	1.717725	-0.553394696242798	0.20716	1.117387	2.41537016268443E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	1.42	0.21524	-0.166000	0.09943	.	.	0.321000	0.19380	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.0:1.0:0.0:0.0	6.239	0.19989	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2105	1917.3	201	chr19	8908637	.	C	G	1917.3	.	AC=8;AF=0.211;AN=38;BaseQRankSum=1.96;DP=3143;ExcessHet=4.0268;FS=16.444;InbreedingCoeff=-0.2764;MLEAC=8;MLEAF=0.211;MQ=58.64;MQRankSum=-9.108;QD=1.27;ReadPosRankSum=0.13;SOR=2.478	GT:AD:DP:GQ:PL	0/1:185,22:207:99:367,0,7641	11	0	8	0
chr19	8908644	8908644	C	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon23:c.G37567C:p.D12523H	.	422	906	191	3	0	197	0.0980587	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00120507919294	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796881038	6.844e-07	2.805e-05	0	1.376e-06	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	6.682e-06	0.0013	0	1.372e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.555	0.06482	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.53	0.01980	T	-0.67	0.19297	N	0.127	0.12055	-0.9652	0.38171	T	0.005	0.01833	T	8	0.059954166	0.07290	T	0.001205	0.01558	T	0.015	0.02232	.	.	0.0401082797425	0.02173	0.17377359918076668	0.17297	.	.	0.218874275684	0.01246	T	.	.	.	-0.367293	0.03734	T	-0.765368	0.02923	T	0.0819785980810491	0.10239	T	0.169583	0.01587	T	.	.	.	.	.	.	.	.	-8.635	0.65320	D	.	.	0.155	0.34383	B	.	.	-0.155485	0.03325	0.581	0.2311562001233356	0.00962	0.00236	0.01316	N	AEFBI	0.021935	0.01036	N	-1.22951270346983	0.04577	0.2068566	-1.43744946049098	0.02886	0.1335886	3.83668398290725E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.84	0.05408	-3.238000	0.00603	.	.	0.321000	0.19380	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.4784:0.3304:0.0:0.1912	2.526	0.04405	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2105	1957.35	205	chr19	8908644	.	C	G	1957.35	.	AC=8;AF=0.211;AN=38;BaseQRankSum=2.61;DP=3180;ExcessHet=4.0268;FS=14.083;InbreedingCoeff=-0.2681;MLEAC=8;MLEAF=0.211;MQ=58.45;MQRankSum=-9.064;QD=1.3;ReadPosRankSum=0.763;SOR=2.414	GT:AD:DP:GQ:PL	0/1:182,22:204:99:376,0,7505	11	0	8	0
chr19	9251869	9251869	G	T	exonic	OR7E24	.	nonsynonymous SNV	OR7E24:NM_001079935:exon1:c.G826T:p.G276W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.0012507490271	0.0002	0.000599042	0.0002	0.0003	0	0.0021	0	0	0	6.083e-05	0.0001746	27	154602	rs184473277	0.0001	0.0001	0.0001	0.0001	0.0025	9.333e-05	8.817e-05	0.0021	0.0019	5.974e-05	0	0	0.0025	0	0.0002	3.597e-06	0.0003	0.0004	0.0002	0.0002	0.0002	0.0002	0.0021	0.0001	9.701e-05	0.0012	0.0009	0.0003	0	0	0	0.0021	0	0	0	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	0.02	0.18235	B	0.037	0.23121	B	.	.	.	.	1	0.08975	N	0.805	0.20218	L	8.73	0.00091	T	-0.61	0.18042	N	0.193	0.21188	-1.0086	0.27354	T	0.000	0.00152	T	9	0.01376304	0.00291	T	0.001251	0.01683	T	0.019	0.03383	.	.	0.461583377977	0.45782	.	.	0.0156864422281	0.01497	0.188851892948	0.00205	T	0.00281	0.02207	T	-0.554996	0.00272	T	-0.576774	0.14834	T	0.0395187439213905	0.03604	T	0.90391	0.66280	D	0.1777713	0.38760	0.24156941	0.49558	0.1777713	0.38760	0.24156941	0.49557	-6.212	0.48020	T	.	.	0.306	0.53448	B	.;.	.;.	2.382664	0.30587	18.48	0.47745623393390996	0.03928	0.02843	0.07595	N	AEFI	0.083170	0.16847	N	-0.962279903090534	0.09419	0.4456793	-1.06211749803933	0.08456	0.415862	2.07238171631385E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.21	1.14	0.19817	0.051000	0.14025	.	.	0.552000	0.28158	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3017:0.0:0.6983:0.0	5.265	0.14909	970	0.06235	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1627.33	33	chr19	9251869	.	G	T	1627.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.009;DP=941;ExcessHet=0;FS=0.714;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.79;ReadPosRankSum=0.968;SOR=0.788	GT:AD:DP:GQ:PL	0/1:48,62:110:99:1641,0,1369	18	0	1	0
chr19	10552121	10552121	G	C	exonic	ATG4D	.	nonsynonymous SNV	ATG4D:NM_001281504:exon8:c.G933C:p.E311D,ATG4D:NM_032885:exon8:c.G1122C:p.E374D	.	426	1076	20	0	0	20	0.0092081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.202	.	0.0002	0.000599042	0.0007	0	0.0003	0	0	0.0003	0.0022	0.0033	0.0005563	86	154602	rs141346756	0.0003	0.0003	0.0002	0.0005	0.0040	0.0003	0.0003	0.0033	0.0032	0	0.0002	0.0001	0	0	0.0040	0.0001	0.0005	0.0037	0.0002	0.0002	0.0001	0.0003	0.0031	0.0002	0.0001	0.0019	0.0015	0	0	0	0.0003	0	0	0	0.0002	0.0005	0.0031	0.025	0.47320	D	0.118	0.59159	T	0.392	0.34646	B	0.261	0.39516	B	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.465	0.36909	L	0.99	0.41750	T	-1.99	0.45949	N	0.553	0.57860	-1.0952	0.04723	T	0.084	0.32843	T	10	0.016469032	0.00347	T	0.023869	0.46847	T	0.202	0.48754	0.542	0.65446	0.458101713262	0.45433	0.403865083192334	0.40302	0.981003695399	0.73741	0.661559700966	0.61633	T	0.061153	0.31577	T	-0.405011	0.02146	T	-0.356336	0.38476	T	0.0440389193697354	0.04428	T	0.925307	0.72522	D	0.5230501	0.68434	0.35204622	0.60789	0.5230501	0.68435	0.35204622	0.60788	-7.826	0.59879	D	.	.	0.305	0.54616	B	.;.;.	.;.;.	4.653263	0.74205	26.1	0.99712663118766443	0.81423	0.95848	0.66412	D	AEFDGBHCI	0.951781	0.96665	D	-0.15424566245146	0.35055	2.008676	-0.0828658949234684	0.36099	2.096491	0.999999999811327	0.74766	0.712529	0.81865	0	0.697927	0.68747	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	5.17	4.12	0.47504	7.096000	0.76614	8.309000	0.76944	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.802000	0.37819	0.0:0.0:0.8489:0.1511	14.217	0.65341	735	0.53711	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.002717	0.000000	0.050000	0.000000	0.000000	0.003788	0.02632	1400.33	39	chr19	10552121	.	G	C	1400.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.883;DP=818;ExcessHet=0;FS=2.206;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=-1.124;SOR=0.577	GT:AD:DP:GQ:PL	0/1:70,61:131:99:1414,0,1865	18	0	1	0
chr19	10687390	10687390	G	A	exonic	ILF3	.	nonsynonymous SNV	ILF3:NM_012218:exon18:c.G2104A:p.G702S,ILF3:NM_017620:exon18:c.G2116A:p.G706S	.	429	1069	21	3	0	27	0.0124711	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.0180897248204	0.0027	0.000798722	0.0034	0.0004	0.0019	0	0.0004	0.0054	0.0065	0.0008	0.0030142	466	154602	rs200928937	0.0028	0.0028	0.0029	0.0028	0.0166	0.0028	0.0027	0.0137	0.0126	0.0008	0.0029	0.0198	0	0.0008	0.0166	0.0026	0.0051	0.0010	0.0025	0.0025	0.0025	0.0025	0.0046	0.0023	0.0022	0.0038	0.0035	0.0005	0	0.0046	0.0216	0	0.0004	0.0068	0.0029	0.0043	0.0008	0.256	0.16793	T	0.037	0.51737	D	1.0	0.90584	D	0.987	0.77487	D	0.086124	0.20604	N	0.501216	0.581031	0.31099	N	0.895	0.22405	L	2.58	0.13434	T	0.11	0.05706	N	0.397	0.44187	-1.1387	0.01407	T	0.052	0.22153	T	10	0.007963777	0.00181	T	0.01809	0.40035	T	0.086	0.25016	.	.	0.63116510682	0.62815	0.21223151268231025	0.21139	0.309918074836	0.33302	0.461486816406	0.33515	T	0.185931	0.53906	T	-0.495792	0.00604	T	-0.486103	0.23801	T	0.0452670708221947	0.04650	T	0.761924	0.38711	T	0.061783712	0.12834	0.061892174	0.12024	0.061783712	0.12833	0.061892174	0.12023	-5.15	0.38789	T	.	.	0.069	0.03515	B	.;.;.	.;.;.	3.636222	0.51531	23.1	0.96031580595347221	0.28506	0.80585	0.40184	D	AEFDBCI	0.290847	0.40212	N	0.349802305639975	0.58730	4.047036	0.327860217749199	0.57182	3.883211	0.99994976792358	0.47345	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.59	3.52	0.39415	4.634000	0.61023	9.397000	0.80618	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.942000	0.48361	0.1169:0.0:0.8831:0.0	9.102	0.35837	730	0.54327	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008891	0.000000	0.004087	0.021875	0.000000	0.000000	0.019355	0.003906	0.05263	3714.83	34	chr19	10687390	.	G	A	3714.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.61;DP=804;ExcessHet=0.119;FS=1.161;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=17.69;ReadPosRankSum=0.73;SOR=0.793	GT:AD:DP:GQ:PL	0/1:32,69:101:99:1815,0,582	17	0	2	0
chr19	10923874	10923874	A	G	exonic	YIPF2	.	nonsynonymous SNV	YIPF2:NM_001321440:exon6:c.T493C:p.C165R,YIPF2:NM_001321439:exon7:c.T610C:p.C204R,YIPF2:NM_024029:exon7:c.T610C:p.C204R	.	0	224	2	0	0	2	0.00444444	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.595	0.128446961157	.	.	1.82e-05	0	0	0	0	3.281e-05	0	0	1.29e-05	2	154602	rs753829429	1.095e-05	1.094e-05	6.81e-06	1.513e-05	0.0002	6.48e-06	5.25e-06	2.196e-05	1.431e-05	0	0	0	0	0	0.0002	8.096e-06	1.657e-05	5.804e-05	6.571e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.043526	1	0.81001	D	3.52	0.92970	H	0.95	0.44856	T	-11.15	0.99356	D	0.831	0.82660	-0.5348	0.67360	T	0.283	0.65468	T	10	0.9874712	0.99115	D	0.128447	0.81038	D	0.595	0.83911	0.905	0.97985	0.362758974969	0.35886	0.9559444501808454	0.95579	0.718172578876	0.62081	0.778898239136	0.78761	T	0.428741	0.77777	T	0.150579	0.69323	D	0.160048	0.80809	D	0.994489312171936	0.85802	D	0.953905	0.82456	D	0.93200105	0.94437	0.8780677	0.93426	0.93200105	0.94438	0.8780677	0.93427	-12.902	0.88955	D	.	.	0.957	0.88748	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.005744	0.59058	24.1	0.96099941516956389	0.28709	0.98718	0.85968	D	AEFDBHCI	0.930796	0.91865	D	0.324154284537134	0.57391	3.906214	0.176524242954016	0.48565	3.070615	0.990578569750041	0.32199	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.62	3.47	0.38831	6.237000	0.72297	6.877000	0.56803	-0.089000	0.16174	1.000000	0.71638	1.000000	0.68203	0.079000	0.17189	0.7317:0.0:0.0:0.2683	10.080	0.41556	511	0.75131	Yip1 domain;Yip1 domain;.;.;.;Yip1 domain;Yip1 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1084.33	35	chr19	10923874	.	A	G	1084.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.757;DP=764;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.3;ReadPosRankSum=-0.004;SOR=0.711	GT:AD:DP:GQ:PL	0/1:52,44:96:99:1098,0,1472	18	0	1	0
chr19	12076186	12076186	A	G	exonic	ZNF844	.	nonsynonymous SNV	ZNF844:NM_001136501:exon4:c.A1066G:p.K356E	.	419	1088	14	1	0	16	0.00729927	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	.	0.0042	0.00359425	0.0066	0.0029	0.0041	0	0.0014	0.0065	0.0023	0.0115	0.0032729	506	154602	rs61998199	0.0053	0.0053	0.0053	0.0054	0.0098	0.0052	0.0052	0.0093	0.0090	0.0008	0.0021	0.0013	0	0.0007	0.0021	0.0058	0.0047	0.0098	0.0034	0.0034	0.0035	0.0034	0.0064	0.0032	0.0031	0.0050	0.0048	0.0011	0	0.0041	0	0	0.0006	0.0068	0.0055	0.0028	0.0064	0.016	0.51853	D	0.026	0.55759	D	0.298	0.32505	B	0.144	0.33818	B	.	.	.	.	1	0.18612	N	1.29	0.32370	L	3.29	0.06445	T	-1.82	0.42763	N	0.066	0.03841	-0.9958	0.31082	T	0.012	0.04795	T	9	0.005078733	0.00110	T	.	.	.	0.018	0.03083	.	.	0.0297737177859	0.01360	0.019703609881135866	0.01923	0.0140823179326	0.01340	0.225910156965	0.01680	T	0.006	0.05051	T	-0.67362	0.00052	T	-0.733846	0.04155	T	0.00836196739726162	0.00101	T	0.0134986	0.00072	T	0.10117602	0.23896	0.08319262	0.19046	0.10117602	0.23896	0.08319262	0.19046	-6.089	0.47018	T	.	.	0.408	0.60019	A	.	.	1.141019	0.15283	11.73	0.99585638236336271	0.73277	0.00001	0.00044	N	AEDBCI	.	.	.	-0.669499871888202	0.16895	0.864769	-0.749832738805937	0.15726	0.8285321	0.00901801513552424	0.11781	0.562547	0.31514	0	0.653731	0.59785	0	0.575934	0.27490	0	0.714379	0.83352	0	.	.	2.5	2.5	0.29355	-1.680000	0.02040	.	.	0.497000	0.22564	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.7554:0.2446:0.0:0.0	6.624	0.22014	934	0.15400	Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002520	0.000000	0.001362	0.002924	0.000000	0.000000	0.009146	0.000000	0.02632	1695.33	36	chr19	12076186	.	A	G	1695.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.692;DP=1132;ExcessHet=0;FS=2.226;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.14;ReadPosRankSum=-0.116;SOR=0.51	GT:AD:DP:GQ:PL	0/1:67,62:129:99:1709,0,1871	18	0	1	0
chr19	12430730	12430730	A	0	exonic	ZNF443	.	.	.	.	412	412	423	155	120	853	0.470777	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	15365.4	34	chr19	12430730	.	A	*	15365.4	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-3.331;DP=3014;ExcessHet=1.1637;FS=3.239;InbreedingCoeff=-0.0192;MLEAC=4;MLEAF=0.105;MQ=58.32;MQRankSum=-4.846;QD=12.05;ReadPosRankSum=0.056;SOR=0.515	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,74:137:99:1|0:12430718_C_A:5873,2064,1679:12430718	15	0	4	0
chr19	12948355	12948355	C	T	exonic	RAD23A	.	nonsynonymous SNV	RAD23A:NM_001270362:exon3:c.C413T:p.S138L,RAD23A:NM_001270363:exon3:c.C413T:p.S138L,RAD23A:NM_005053:exon3:c.C413T:p.S138L	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00761703229564	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1381401815	7.709e-06	7.524e-06	6.94e-06	8.493e-06	1.006e-05	4.14e-06	3.02e-06	5.4e-06	3.95e-06	0	0	0	0	0	0	1.006e-05	0	0	6.572e-06	6.566e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.088	0.32296	T	0.119	0.39954	T	0.011	0.15914	B	0.006	0.12133	B	0.139913	0.18327	N	0.508000	0.964194	0.81001	D	0.695	0.17993	N	2.18	0.19020	T	-2.05	0.47008	N	0.306	0.34552	-1.0705	0.09304	T	0.033	0.14160	T	10	0.19162971	0.34858	T	0.007617	0.20219	T	0.025	0.05312	0.215	0.13498	0.620768986564	0.61769	0.3793580263221205	0.37850	0.371181252797	0.38618	0.555374205112	0.46614	T	0.220472	0.58377	T	-0.182218	0.23405	T	-0.49952	0.22398	T	0.32501079798074	0.26024	T	0.758124	0.38180	T	0.1237665	0.29054	0.10573551	0.25424	0.1237665	0.29054	0.10573551	0.25424	-5.566	0.42481	T	.	.	0.078	0.06990	B	.;.;.	.;.;.	2.973435	0.39636	21.0	0.99738266837684864	0.83264	0.62263	0.31729	D	AEFBHCI	0.365367	0.45357	N	-0.38461273663288	0.26016	1.416709	-0.238633312389938	0.30164	1.696093	0.99999999947816	0.74766	0.722319	0.85440	0	0.697927	0.68747	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.68	4.68	0.58319	1.381000	0.33969	.	.	0.599000	0.40250	0.002000	0.15269	1.000000	0.68203	0.973000	0.55318	0.0:1.0:0.0:0.0	13.108	0.58673	528	0.73785	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1037.33	36	chr19	12948355	.	C	T	1037.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.511;DP=732;ExcessHet=0;FS=1.725;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.53;ReadPosRankSum=0.82;SOR=0.479	GT:AD:DP:GQ:PL	0/1:47,43:90:99:1051,0,1300	18	0	1	0
chr19	12969758	12969758	C	-	exonic	DAND5	.	frameshift deletion	DAND5:NM_152654:exon1:c.98delC:p.W34Gfs*54	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	856.29	33	chr19	12969757	.	TC	T	856.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.18;DP=691;ExcessHet=0;FS=2.021;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=1.83;SOR=1.071	GT:AD:DP:GQ:PL	0/1:43,29:72:99:870,0,1390	18	0	1	0
chr19	14799940	14799940	A	G	exonic	OR7C1	.	nonsynonymous SNV	OR7C1:NM_198944:exon1:c.T197C:p.L66P,OR7C1:NM_001370485:exon5:c.T347C:p.L116P	.	432	1085	5	0	0	5	0.00229885	.	.	.	2337348	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.326	0.0248273427601	0.0006	0.000599042	0.0007	9.617e-05	0.0005	0.0001	0	0.0007	0.0033	0.0013	0.0005951	92	154602	rs145774543	0.0005	0.0005	0.0005	0.0006	0.0016	0.0005	0.0005	0.0012	0.0011	0.0001	0.0004	0.0010	0	0	0.0016	0.0005	0.0005	0.0014	0.0004	0.0004	0.0004	0.0003	0.0017	0.0003	0.0003	0.0008	0.0006	0.0001	0	0.0002	0.0006	0.0002	0	0	0.0005	0.0014	0.0017	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.010481	0.29911	U	0.000000	0.999961	0.52935	D	4.17	0.97676	H	6.35	0.00549	T	-5.85	0.88495	D	0.747	0.74644	-1.1739	0.00468	T	0.016	0.06616	T	10	0.35201013	0.52038	T	0.024827	0.47815	T	0.326	0.64826	.	.	0.552822141497	0.54940	0.8463667177452696	0.84597	1.0451690455	0.75935	0.257679343224	0.04619	T	0.122631	0.44644	T	-0.0665279	0.41879	T	0.0962827	0.76662	D	0.258438520966617	0.23247	T	0.544446	0.18591	T	0.9370023	0.94943	0.84512174	0.91178	0.9370023	0.94943	0.84512174	0.91179	-8.504	0.64456	D	.	.	0.362	0.58832	A	.;.;.;.	.;.;.;.	3.328261	0.45808	22.2	0.99840325054939438	0.92057	0.93987	0.59773	D	AEFBI	0.908501	0.86388	D	0.720371134325402	0.80967	7.413433	0.493731924707153	0.67573	5.102243	0.216862224196471	0.18308	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.64	3.64	0.40864	7.691000	0.83459	.	.	0.522000	0.23927	0.990000	0.36992	0.039000	0.21534	0.083000	0.17415	1.0:0.0:0.0:0.0	10.523	0.44117	976	0.04745	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.004076	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	966.33	43	chr19	14799940	.	A	G	966.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.477;DP=798;ExcessHet=0;FS=0.87;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.23;ReadPosRankSum=-0.236;SOR=0.836	GT:AD:DP:GQ:PL	0/1:43,36:79:99:980,0,1290	18	0	1	0
chr19	16392341	16392341	G	A	exonic	EPS15L1	.	nonsynonymous SNV	EPS15L1:NM_001258374:exon19:c.C2066T:p.S689L,EPS15L1:NM_001258375:exon19:c.C2066T:p.S689L,EPS15L1:NM_021235:exon19:c.C2066T:p.S689L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.0231569791984	.	.	1.648e-05	9.61e-05	0	0	0	1.499e-05	0	0	1.29e-05	2	154602	rs374304767	7.525e-06	7.524e-06	2.722e-06	1.238e-05	4.637e-05	4.04e-06	2.95e-06	1.583e-05	9.3e-06	0	0	0	0	0	0	6.295e-06	0	4.637e-05	1.314e-05	1.313e-05	1.284e-05	1.344e-05	4.823e-05	2.18e-06	8.2e-07	7.99e-06	2.99e-06	4.823e-05	0	0	0	0	0	0	0	0	0	0.012	0.54683	D	0.054	0.51421	T	0.967	0.56408	D	0.226	0.38054	B	0.037017	0.24452	N	0.360958	0.999084	0.46578	D	2.215	0.62545	M	1.74	0.34452	T	-2.49	0.54217	N	0.387	0.44952	-1.0564	0.12672	T	0.067	0.27502	T	10	0.26516762	0.44011	T	0.023157	0.46105	T	0.125	0.34456	0.077	0.00572	0.220282294035	0.21616	0.16482515344444007	0.16402	0.201976119051	0.22616	0.584871470928	0.50772	T	0.257092	0.62808	T	-0.194105	0.21658	T	-0.335067	0.40902	T	0.823434591293335	0.48029	D	0.837416	0.62748	T	0.14474216	0.33209	0.14949372	0.35295	0.14474216	0.33209	0.14949372	0.35294	-9.268	0.70110	D	.	.	0.082	0.12797	B	.;.;.;.	.;.;.;.	4.154538	0.62344	24.4	0.99805175472850727	0.88995	0.99345	0.94800	D	AEFBI	0.725473	0.67444	D	0.149333151687694	0.48782	3.086155	0.163893073642576	0.47881	3.011921	0.999953396631684	0.48110	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	3.68	3.68	0.41359	7.128000	0.76828	11.321000	0.92526	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.383000	0.26402	0.0:0.0:1.0:0.0	14.843	0.69872	970	0.06235	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2209.33	34	chr19	16392341	.	G	A	2209.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.918;DP=786;ExcessHet=0;FS=1.239;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.72;ReadPosRankSum=-0.678;SOR=0.569	GT:AD:DP:GQ:PL	0/1:73,88:161:99:2223,0,1654	18	0	1	0
chr19	16661231	16661231	C	T	exonic	TMEM38A	.	nonsynonymous SNV	TMEM38A:NM_024074:exon1:c.C14T:p.S5L	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.465415115191	0.0008	0.000599042	0.0015	0	0	0	0.0004	0.0026	0.0041	0.0005	0.0008732	135	154602	rs141700561	0.0007	0.0007	0.0007	0.0007	0.0007	0.0006	0.0006	0.0007	0.0006	0	7.495e-05	0.0020	0	0.0011	0.0005	0.0007	0.0008	0.0005	0.0004	0.0004	0.0005	0.0004	0.0008	0.0004	0.0003	0.0005	0.0005	0	0	6.549e-05	0.0029	0	0.0005	0	0.0007	0	0.0008	0.056	0.38185	T	0.185	0.28958	T	0.897	0.49385	P	0.084	0.29270	B	0.156532	0.17797	N	0.503008	0.803871	0.34547	D	1.15	0.29295	L	.	.	.	-1.41	0.34795	N	0.316	0.35620	-0.9267	0.44616	T	0.067	0.27468	T	9	0.01045239	0.00232	T	0.465415	0.94587	D	0.047	0.12962	.	.	0.0611884634855	0.05136	0.5040289640108612	0.50324	0.298450713578	0.32224	0.902976870537	0.96763	D	0.057881	0.30689	T	-0.404724	0.02156	T	-0.384214	0.35229	T	0.0337519469264825	0.02596	T	0.849315	0.53201	T	0.21773879	0.44264	0.1222116	0.29480	0.21773879	0.44264	0.1222116	0.29479	-4.621	0.32435	T	.	.	0.305	0.53363	B	.	.	3.804619	0.54844	23.5	0.99637069320830396	0.76387	0.35449	0.25304	N	ALL	0.232216	0.35532	N	-0.241383179128928	0.31449	1.763505	-0.243810316775966	0.29984	1.684451	0.99999999995736	0.74766	0.789315	0.99827	0	0.52208	0.09955	0	0.768056	0.98339	0	0.56751	0.32155	0	.	.	3.55	3.55	0.39770	0.416000	0.20918	4.637000	0.44139	0.446000	0.21189	0.001000	0.13787	1.000000	0.68203	0.867000	0.41218	0.0:1.0:0.0:0.0	10.653	0.44852	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	.	.	.	.	.	.	.	.	0.02632	339.33	34	chr19	16661231	.	C	T	339.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.51;DP=667;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.71;ReadPosRankSum=-1.473;SOR=0.664	GT:AD:DP:GQ:PL	0/1:27,17:44:99:353,0,603	18	0	1	0
chr19	17212276	17212276	G	T	exonic	MYO9B	.	nonsynonymous SNV	MYO9B:NM_004145:exon40:c.G6440T:p.C2147F	.	427	1093	2	0	0	2	0.000914077	.	.	.	756808	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.030	0.110605621021	0.0007	.	0.0009	0	0.0016	0	0	0.0014	0	0.0002	0.0002846	44	154602	rs201009683	0.0003	0.0004	0.0004	0.0003	0.0018	0.0003	0.0003	0.0010	0.0007	0.0002	0.0006	0.0016	0	0	0.0018	0.0003	0.0005	0.0001	0.0005	0.0005	0.0004	0.0006	0.0021	0.0004	0.0004	0.0015	0.0013	4.811e-05	0	0.0021	0.0020	0	0	0.0034	0.0004	0.0009	0.0002	.	.	.	0.102	0.38450	T	.	.	.	.	.	.	0.202366	0.16567	N	0.511841	0.999884	0.50402	D	.	.	.	-2.05	0.85799	D	.	.	.	0.398	0.43899	-0.9210	0.45417	T	0.110	0.39699	T	9	0.031621575	0.01299	T	0.110606	0.78806	D	.	.	.	.	0.267718591433	0.26370	.	.	.	.	0.518901228905	0.41472	T	0.024605	0.18561	T	-0.218814	0.18155	T	-0.209356	0.53757	T	0.0492037875694996	0.05359	T	0.754824	0.37774	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.11797	B	.	.	3.432573	0.47710	22.5	0.89194487684164336	0.18590	0.87509	0.47071	D	AEFBI	0.371469	0.45747	N	0.181932966608269	0.50332	3.224187	0.242113777422032	0.52201	3.39662	0.00194315580774608	0.09028	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.84	3.76	0.42368	2.017000	0.40600	5.263000	0.48128	0.614000	0.49286	0.997000	0.40164	1.000000	0.68203	0.688000	0.33778	0.0:0.2162:0.7838:0.0	12.357	0.54507	917	0.20147	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003550	0.005155	0.002717	0.008929	0.050000	0.000000	0.006173	0.000000	0.02632	1044.33	39	chr19	17212276	.	G	T	1044.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.72;DP=754;ExcessHet=0;FS=1.814;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.58;ReadPosRankSum=-1.988;SOR=0.977	GT:AD:DP:GQ:PL	0/1:43,40:83:99:1058,0,1022	18	0	1	0
chr19	17286690	17286692	GTT	0	exonic	ANKLE1	.	.	.	.	521	443	240	2	316	560	0.215929	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	1637.94	40	chr19	17286690	.	GTT	*	1637.94	.	AC=14;AF=0.368;AN=38;BaseQRankSum=1.46;DP=1151;ExcessHet=0.463;FS=1.245;InbreedingCoeff=0.1559;MLEAC=14;MLEAF=0.368;MQ=59.99;MQRankSum=0;QD=3.04;ReadPosRankSum=1.16;SOR=0.576	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:5,25:39:41:.:.:908,41,132:.	7	2	10	0
chr19	17286692	17286692	T	0	exonic	ANKLE1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5556	2986.13	40	chr19	17286692	.	T	*	2986.13	.	AC=20;AF=0.556;AN=36;BaseQRankSum=0;DP=1155;ExcessHet=0.5777;FS=0;InbreedingCoeff=0.0134;MLEAC=21;MLEAF=0.583;MQ=59.97;MQRankSum=0;QD=4.33;ReadPosRankSum=1.35;SOR=0.666	GT:AD:DP:GQ:PL	1/1:4,36:41:21:1738,21,0	4	6	8	1
chr19	19492319	19492319	G	A	exonic	GATAD2A	.	nonsynonymous SNV	GATAD2A:NM_001359631:exon3:c.G283A:p.E95K,GATAD2A:NM_001384513:exon3:c.G283A:p.E95K,GATAD2A:NM_001384519:exon3:c.G283A:p.E95K,GATAD2A:NM_001384527:exon3:c.G283A:p.E95K,GATAD2A:NM_001384528:exon3:c.G283A:p.E95K,GATAD2A:NM_001384530:exon3:c.G283A:p.E95K,GATAD2A:NM_001384532:exon3:c.G283A:p.E95K,GATAD2A:NM_001384535:exon3:c.G283A:p.E95K,GATAD2A:NM_001384536:exon3:c.G283A:p.E95K,GATAD2A:NM_001384537:exon3:c.G283A:p.E95K,GATAD2A:NM_001384538:exon3:c.G283A:p.E95K,GATAD2A:NM_001384539:exon3:c.G283A:p.E95K,GATAD2A:NM_017660:exon3:c.G283A:p.E95K,GATAD2A:NM_001300946:exon4:c.G283A:p.E95K,GATAD2A:NM_001384511:exon4:c.G283A:p.E95K,GATAD2A:NM_001384515:exon4:c.G283A:p.E95K,GATAD2A:NM_001384516:exon4:c.G283A:p.E95K,GATAD2A:NM_001384517:exon4:c.G283A:p.E95K,GATAD2A:NM_001384518:exon4:c.G283A:p.E95K,GATAD2A:NM_001384524:exon4:c.G283A:p.E95K,GATAD2A:NM_001384525:exon4:c.G283A:p.E95K,GATAD2A:NM_001384529:exon4:c.G283A:p.E95K,GATAD2A:NM_001384531:exon4:c.G283A:p.E95K,GATAD2A:NM_001384533:exon4:c.G283A:p.E95K,GATAD2A:NM_001384534:exon4:c.G283A:p.E95K,GATAD2A:NM_001384512:exon5:c.G283A:p.E95K,GATAD2A:NM_001384521:exon5:c.G283A:p.E95K,GATAD2A:NM_001384522:exon5:c.G283A:p.E95K,GATAD2A:NM_001384523:exon5:c.G283A:p.E95K,GATAD2A:NM_001384526:exon5:c.G283A:p.E95K,GATAD2A:NM_001384514:exon6:c.G283A:p.E95K	.	419	1092	11	0	0	11	0.00501139	.	.	.	2375046	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.226	0.042003906137	0.0005	.	0.0006	0.0002	0.0004	0	0	0.0009	0	0.0002	0.0003363	52	154602	rs200305535	0.0005	0.0005	0.0005	0.0005	0.0017	0.0005	0.0005	0.0009	0.0007	6.011e-05	0.0002	0	0	1.897e-05	0.0017	0.0006	0.0006	0.0002	0.0004	0.0004	0.0005	0.0003	0.0008	0.0003	0.0003	0.0007	0.0006	7.236e-05	0	0.0003	0	0	0	0	0.0008	0	0	0.132	0.91255	T	0.268	0.62352	T	0.999	0.77913	D	0.845	0.60432	P	0.000000	0.84330	D	0.049320	0.999998	0.81001	D	2.36	0.67893	M	1.21	0.57100	T	-0.89	0.62630	N	0.67	0.74007	-0.6105	0.64382	T	0.295	0.66669	T	10	0.14298913	0.27154	T	0.042004	0.60234	D	0.226	0.52472	.	.	0.569458706314	0.56611	0.3335892771895236	0.33271	1.12921193493	0.78546	0.642696261406	0.58947	T	0.208434	0.56836	T	-0.196683	0.21284	T	-0.145654	0.59626	T	0.106863949724166	0.13095	T	0.972303	0.89961	D	0.15650605	0.35315	0.17145163	0.39329	0.15650605	0.35314	0.17145163	0.39328	-10.6	0.77477	D	.	.	0.191	0.55624	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.269667	0.88479	29.6	0.99915281956807378	0.98379	0.99259	0.93576	D	AEFBCI	0.933727	0.92606	D	0.701328625152215	0.79718	7.13752	0.688075674765453	0.81471	7.534878	0.999999999999123	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.606735	0.37207	0	0.714379	0.83352	0	.	.	5.61	5.61	0.85347	8.980000	0.93030	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.288000	0.24212	0.0:0.0:1.0:0.0	18.201	0.89772	432	0.80690	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004032	0.005051	0.002717	0.002924	0.000000	0.000000	0.009202	0.003788	0.02632	1160.33	37	chr19	19492319	.	G	A	1160.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.52;DP=737;ExcessHet=0;FS=1.804;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.81;ReadPosRankSum=-0.238;SOR=0.963	GT:AD:DP:GQ:PL	0/1:39,45:84:99:1174,0,864	18	0	1	0
chr19	21383191	21383191	G	A	exonic	ZNF738	.	nonsynonymous SNV	ZNF738:NM_001355237:exon5:c.G645A:p.M215I	.	525	981	16	0	0	16	0.00808898	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs910428921	1.384e-06	0.0003	0	2.783e-06	2.276e-05	2.3e-07	9e-08	.	.	0	2.276e-05	0	0	0	0	9.092e-07	0	0	0	0.0038	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	3242.86	183	chr19	21383191	.	G	A	3242.86	.	AC=8;AF=0.25;AN=32;BaseQRankSum=-0.267;DP=2155;ExcessHet=4.0268;FS=7.059;InbreedingCoeff=-0.3333;MLEAC=9;MLEAF=0.281;MQ=58.7;MQRankSum=-11.53;QD=2.49;ReadPosRankSum=-1.253;SOR=1.407	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:170,18:188:99:0|1:21383168_A_G:244,0,7084:21383168	8	0	8	3
chr19	21383196	21383196	T	C	exonic	ZNF738	.	nonsynonymous SNV	ZNF738:NM_001355237:exon5:c.T650C:p.L217S	.	531	981	10	0	0	10	0.00507099	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1380787073	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.719e-06	0.0012	1.31e-05	0	1.497e-05	0	0	.	.	0	0	0	0	0	0	0	1.497e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2353	2200.43	182	chr19	21383196	.	T	C	2200.43	.	AC=8;AF=0.235;AN=34;BaseQRankSum=1.69;DP=2105;ExcessHet=4.0268;FS=7.984;InbreedingCoeff=-0.3099;MLEAC=9;MLEAF=0.265;MQ=58.83;MQRankSum=-11.88;QD=1.72;ReadPosRankSum=-1.247;SOR=1.604	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:170,14:184:76:0|1:21383168_A_G:76,0,7096:21383168	9	0	8	2
chr19	23827519	23827519	C	T	exonic	RPSAP58	.	nonsynonymous SNV	RPSAP58:NM_001355283:exon4:c.C358T:p.R120W,RPSAP58:NM_001355287:exon5:c.C358T:p.R120W	.	11	1407	98	6	0	110	0.0376197	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.277	.	.	0.00599042	0.0111	0.0008	0.0087	0	0.0015	0.0126	0.0126	0.0165	0.0009961	154	154602	rs200743636	0.0098	0.0100	0.0096	0.0101	0.0447	0.0097	0.0097	0.0396	0.0376	0.0019	0.0100	0.0266	5.039e-05	0.0035	0.0447	0.0096	0.0128	0.0150	0.0088	0.0089	0.0083	0.0094	0.0124	0.0085	0.0083	0.0117	0.0114	0.0019	0.0022	0.0122	0.0277	0.0004	0.0030	0.0340	0.0124	0.0161	0.0122	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	1373.81	33	chr19	23827519	.	C	T	1373.81	.	AC=2;AF=0.053;AN=38;DP=674;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=44.21;QD=34.35;SOR=0.793	GT:AD:DP:GQ:PL	1/1:0,40:40:99:1401,120,0	18	1	0	0
chr19	30444832	30444832	G	C	exonic	ZNF536	.	nonsynonymous SNV	ZNF536:NM_001352260:exon2:c.G1270C:p.A424P,ZNF536:NM_014717:exon2:c.G1270C:p.A424P,ZNF536:NM_001376110:exon3:c.G1270C:p.A424P,ZNF536:NM_001376111:exon3:c.G1270C:p.A424P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.397	0.0411241634046	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.41364	D	0.064	0.50809	T	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.04	0.26193	L	2.97	0.09915	T	-2.16	0.48850	N	0.918	0.92084	-1.1500	0.01025	T	0.063	0.26065	T	10	0.5899613	0.66324	D	0.041124	0.59757	D	0.397	0.71163	0.479	0.55823	0.263709349026	0.25991	0.7902625042852016	0.78978	2.12773366393	0.95105	0.772441267967	0.77790	T	0.031189	0.28549	T	0.173816	0.71473	D	0.0118988	0.71104	D	0.988329172134399	0.78670	D	0.967203	0.88094	D	0.5575797	0.70376	0.62898314	0.78362	0.5575797	0.70377	0.62898314	0.78363	-5.272	0.39665	T	.	.	0.521	0.65515	A	.;.	.;.	4.264749	0.64845	24.8	0.99632047899128851	0.76081	0.98926	0.88723	D	AEFDBI	0.970764	0.99296	D	0.680110334787486	0.78329	6.849665	0.698259660988615	0.82247	7.719829	0.999999996544198	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	5.44	5.44	0.79348	8.112000	0.89421	8.631000	0.77853	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.867000	0.41218	0.0:0.0:1.0:0.0	19.25	0.93908	773	0.48803	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1293.33	34	chr19	30444832	.	G	C	1293.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.49;DP=804;ExcessHet=0;FS=2.639;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.33;ReadPosRankSum=1.24;SOR=0.699	GT:AD:DP:GQ:PL	0/1:50,47:97:99:1307,0,1306	18	0	1	0
chr19	32999594	32999594	C	T	exonic	RHPN2	.	nonsynonymous SNV	RHPN2:NM_033103:exon10:c.G1217A:p.R406Q	.	393	1026	102	1	0	104	0.0482375	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.0142889467842	.	.	7.456e-05	0.0002	8.699e-05	0.0002	0	6.023e-05	0	0	3.84e-05	1	26028	rs201438314	6.167e-06	7.524e-06	4.091e-06	8.265e-06	0.0002	2.9e-06	2.1e-06	8.222e-05	5.8e-05	0	2.239e-05	0	0.0002	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	0.13131	T	0.262	0.22895	T	0.046	0.21875	B	0.011	0.15521	B	0.546131	0.05342	N	1.251570	1	0.08975	N	0.72	0.18721	N	1.92	0.23082	T	-1.58	0.38151	N	0.079	0.05414	-1.0477	0.15045	T	0.066	0.27364	T	10	0.048371255	0.04278	T	0.014289	0.34307	T	0.081	0.23632	.	.	0.27132560031	0.26736	0.06164481015293202	0.06104	0.382972438731	0.39630	0.201459959149	0.00501	T	0.059124	0.31030	T	-0.36165	0.04038	T	-0.757261	0.03211	T	0.0508323867332556	0.05645	T	0.756024	0.37907	T	0.041213904	0.06027	0.04124066	0.04644	0.041213904	0.06027	0.04124066	0.04643	-5.092	0.37823	T	.	.	0.066	0.02257	B	.	.	1.142576	0.15300	11.74	0.98445629126539858	0.41564	0.00752	0.03125	N	AEFDBI	0.050936	0.08950	N	-1.11366119687686	0.06399	0.2944523	-1.21024942297574	0.05744	0.2745707	0.999756840206791	0.42595	0.67177	0.52595	0	0.708844	0.79440	0	0.702456	0.68683	0	0.655142	0.61905	0	.	.	4.72	-6.97	0.01459	-0.603000	0.05770	-3.390000	0.02823	0.537000	0.25018	0.000000	0.06391	0.000000	0.08366	0.629000	0.32131	0.1977:0.0875:0.0954:0.6194	3.396	0.06880	819	0.41190	BRO1 domain|BRO1 domain|BRO1 domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.010585	0.050505	0.000000	0.011765	0.000000	0.000000	0.018405	0.000000	0.02632	121.33	112	chr19	32999594	.	C	T	121.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.378;DP=1964;ExcessHet=0;FS=3.642;InbreedingCoeff=-0.0272;MLEAC=1;MLEAF=0.026;MQ=52.64;MQRankSum=-3.113;QD=1.43;ReadPosRankSum=-1.597;SOR=1.27	GT:AD:DP:GQ:PL	0/1:73,12:85:99:135,0,2394	18	0	1	0
chr19	32999679	32999679	G	A	exonic	RHPN2	.	stopgain	RHPN2:NM_033103:exon10:c.C1132T:p.Q378X	.	392	647	479	4	0	487	0.273442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2531	0.3917	0.1262	0.2590	0.2378	0.2220	0.2567	0.3809	0.0003842	10	26028	rs78615454	1.45e-05	0.0007	1.512e-05	1.387e-05	0.0011	9.32e-06	7.91e-06	0.0005	0.0003	0	2.247e-05	0	0	0	0.0011	9.078e-07	0	0.0002	0	1.97e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.295	0.33360	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.195965	0.73516	D	0.652534	0.98317	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	9.996723	0.99494	44	0.99829210797084544	0.91112	0.99069	0.90771	D	AEFDBI	0.292062	0.40303	N	1.04336661485944	0.96932	15.344	0.880771434466692	0.94678	12.953	0.999999999954891	0.74766	0.67177	0.52595	0	0.708844	0.79440	0	0.702456	0.68683	0	0.567892	0.33627	0	.	.	4.72	4.72	0.59248	9.105000	0.93598	11.713000	0.94685	0.604000	0.46097	1.000000	0.71638	1.000000	0.68203	0.930000	0.46718	0.0:0.0:1.0:0.0	17.685	0.88159	819	0.41190	BRO1 domain|BRO1 domain|BRO1 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.282981	0.237374	0.312500	0.260234	0.250000	0.301724	0.234756	0.329545	0.1579	1182.37	210	chr19	32999679	.	G	A	1182.37	.	AC=6;AF=0.158;AN=38;BaseQRankSum=-3.027;DP=3336;ExcessHet=2.0135;FS=2.622;InbreedingCoeff=-0.1869;MLEAC=6;MLEAF=0.158;MQ=55.09;MQRankSum=-5.133;QD=1;ReadPosRankSum=4.16;SOR=0.749	GT:AD:DP:GQ:PL	0/1:165,27:192:78:78,0,4627	13	0	6	0
chr19	35644778	35644778	C	T	exonic	ETV2	.	nonsynonymous SNV	ETV2:NM_001304549:exon5:c.C394T:p.R132C,ETV2:NM_001300974:exon6:c.C676T:p.R226C,ETV2:NM_014209:exon7:c.C955T:p.R319C	.	422	1097	2	1	0	4	0.00181984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.208	0.0594157956808	.	0.000399361	0.0002	0	0	0	0	9.163e-05	0	0.0013	0.0001617	25	154602	rs149153832	8.974e-05	9.029e-05	4.498e-05	0.0001	0.0012	7.7e-05	7.243e-05	0.0010	0.0009	0	2.248e-05	0	0	0	0.0003	1.8e-05	0.0001	0.0012	3.938e-05	3.937e-05	2.569e-05	5.37e-05	0.0010	1.714e-05	1.128e-05	0.0004	0.0003	0	0	0	0	0	0	0	1.47e-05	0	0.0010	0.0	0.91255	D	0.0	0.92824	D	0.777	0.44168	P	0.244	0.38795	B	0.013586	0.28793	N	0.297232	0.999999	0.58761	D	1.415	0.35607	L	2.24	0.17923	T	-7.19	0.95789	D	0.468	0.50958	-1.0838	0.06628	T	0.086	0.33410	T	10	0.073232055	0.11038	T	0.059416	0.67655	D	0.208	0.49714	.	.	0.476908202251	0.47319	0.7293760925422329	0.72882	1.37440599727	0.84619	0.665876150131	0.62249	T	0.582	0.92447	D	-0.27146	0.11595	T	-0.208261	0.53862	T	0.306392334284892	0.25266	T	0.839916	0.51465	T	0.65044004	0.75387	0.46044004	0.68661	0.65044004	0.75389	0.46044004	0.68662	-6.615	0.51168	T	.	.	0.187	0.48998	B	.;.;.;.;.	.;.;.;.;.	4.827802	0.78691	27.0	0.99878125333336254	0.95491	0.87868	0.47558	D	ALL	0.582706	0.58222	D	0.305269844313703	0.56420	3.806545	0.282213354383388	0.54500	3.614892	0.999999999999853	0.74766	0.652421	0.48094	0	0.218748	0.04544	0	0.64067	0.45733	0	0.56214	0.19341	0	.	.	4.7	3.66	0.41111	0.195000	0.16960	1.755000	0.28506	0.599000	0.40250	0.750000	0.29133	1.000000	0.68203	0.990000	0.65344	0.1881:0.7149:0.0:0.097	5.908	0.18256	912	0.21483	.;Ets domain|Ets domain|Ets domain|Ets domain;Ets domain|Ets domain|Ets domain|Ets domain;Ets domain|Ets domain|Ets domain|Ets domain;Ets domain|Ets domain|Ets domain|Ets domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001009	0.000000	0.000000	0.000000	0.000000	0.000000	0.006173	0.000000	0.02632	1719.33	34	chr19	35644778	.	C	T	1719.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.83;DP=773;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.21;ReadPosRankSum=1.09;SOR=0.684	GT:AD:DP:GQ:PL	0/1:57,64:121:99:1733,0,1262	18	0	1	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	.	.	.	.	.	.	.	.	0.3214	3330.01	92	chr19	37887095	.	C	T	3330.01	.	AC=9;AF=0.321;AN=28;BaseQRankSum=-3.747;DP=1972;ExcessHet=5.3738;FS=263.164;InbreedingCoeff=-0.434;MLEAC=11;MLEAF=0.393;MQ=60;MQRankSum=0;QD=3.19;ReadPosRankSum=1.09;SOR=11.381	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:82,35:117:99:.:.:394,0,2236:.	5	0	9	5
chr19	37887096	37887096	A	G	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.T6575C:p.M2192T,WDR87:NM_031951:exon6:c.T6458C:p.M2153T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.0229314344301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.173e-07	2.259e-05	1.416e-06	0	9.296e-07	0	0	.	.	0	0	0	0	0	0	9.296e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.639	0.06992	T	0.213	0.30041	B	0.033	0.22329	B	.	.	.	.	1	0.08975	N	.	.	.	1.06	0.39781	T	-1.37	0.33998	N	0.241	0.27197	-1.0379	0.17954	T	0.045	0.19437	T	9	0.07963219	0.12831	T	0.022931	0.45860	T	0.034	0.08419	0.354	0.35408	0.132336055621	0.12781	0.09333230472886582	0.09265	.	.	0.44281449914	0.30962	T	.	.	.	-0.187347	0.22650	T	-0.506887	0.21634	T	0.185715109109879	0.19588	T	0.310469	0.06031	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.507	0.66846	A	.;.	.;.	1.675669	0.21359	15.17	0.2656475844503623	0.01278	0.05870	0.11817	N	AEFGBI	0.068161	0.13433	N	-0.937720259489842	0.09970	0.4742779	-0.936529822273914	0.11236	0.5712116	0.00186976402927546	0.08957	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.6	2.35	0.28166	3.208000	0.50816	.	.	0.743000	0.86499	0.302000	0.25342	0.056000	0.21938	0.017000	0.10941	0.637:0.1851:0.0:0.1778	5.276	0.14959	646	0.63441	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3667	4138.4	92	chr19	37887096	.	A	G	4138.4	.	AC=11;AF=0.367;AN=30;BaseQRankSum=-3.922;DP=2038;ExcessHet=8.9063;FS=263.024;InbreedingCoeff=-0.515;MLEAC=13;MLEAF=0.433;MQ=60;MQRankSum=0;QD=3.31;ReadPosRankSum=1.27;SOR=11.427	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:96,21:117:10:.:.:10,0,2935:.	4	0	11	4
chr19	38100016	38100016	C	T	exonic	SIPA1L3	.	nonsynonymous SNV	SIPA1L3:NM_015073:exon5:c.C1720T:p.H574Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.465	0.0182491132571	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.003	0.76473	D	0.99	0.63424	D	0.76	0.56425	P	0.000004	0.62929	D	0.104364	0.99973	0.48635	D	2.415	0.69758	M	-1.16	0.78082	T	-4.89	0.81431	D	0.576	0.59816	0.111	0.84370	D	0.529	0.82516	D	10	0.41175723	0.56272	T	0.018249	0.40250	T	0.465	0.76089	0.387	0.40788	0.360929992642	0.35699	0.4409793017771548	0.44014	1.38090304394	0.84778	0.793018877506	0.80902	T	0.267311	0.63933	T	0.106423	0.64978	D	-0.084907	0.64542	T	0.989697754383087	0.79917	D	0.939006	0.77019	D	0.6631182	0.76065	0.6152392	0.77604	0.6631182	0.76067	0.6152392	0.77605	-11.962	0.84666	D	.	.	0.177	0.38729	B	.	.	4.283546	0.65264	24.8	0.99818432007406033	0.90150	0.98201	0.80484	D	AEFDBI	0.591335	0.58747	D	0.652865941356503	0.76553	6.508049	0.64899844911708	0.78535	6.896054	0.99999957466884	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.88	4.79	0.60909	4.008000	0.56815	5.883000	0.50667	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.897000	0.43391	0.0:0.8608:0.1392:0.0	15.459	0.75064	633	0.64743	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	715.33	33	chr19	38100016	.	C	T	715.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.529;DP=685;ExcessHet=0;FS=4.44;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.29;ReadPosRankSum=-0.925;SOR=1.214	GT:AD:DP:GQ:PL	0/1:46,31:77:99:729,0,1319	18	0	1	0
chr19	38815889	38815889	C	T	exonic	ECH1	.	nonsynonymous SNV	ECH1:NM_001398:exon9:c.G850A:p.D284N	.	426	1062	32	2	0	36	0.0166667	.	.	.	549788	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.184	.	0.0007	0.0439297	0.0217	0.0015	0.0138	0.1011	0.0108	0.0010	0.0111	0.0872	0.0196634	3040	154602	rs58750431	0.0088	0.0088	0.0069	0.0108	0.0926	0.0087	0.0087	0.0902	0.0891	0.0005	0.0126	0.0042	0.0926	0.0111	0.0066	0.0003	0.0128	0.0790	0.0086	0.0086	0.0065	0.0109	0.1036	0.0082	0.0081	0.0963	0.0934	0.0008	0	0.0086	0.0026	0.1036	0.0105	0	0.0006	0.0080	0.0901	0.052	0.39097	T	0.043	0.49942	D	0.58	0.38813	P	0.232	0.38314	B	0.000557	0.43413	N	0.224693	0.995888	0.42905	D	1.96	0.53105	M	-0.34	0.68474	T	-3.92	0.73151	D	0.127	0.12055	-1.0969	0.04487	T	0.016	0.06425	T	10	0.003258437	0.00056	T	.	.	.	0.184	0.45763	.	.	.	.	0.5948108593860878	0.59411	0.210675352167	0.23564	.	.	.	0.126685	0.45322	T	-0.608825	0.00129	T	-0.560458	0.16333	T	0.0442205592395221	0.04461	T	.	.	.	0.0875064	0.20380	0.08958698	0.20957	0.0875064	0.20379	0.08958698	0.20957	-7.382	0.56778	T	.	.	0.113	0.22464	B	.	.	1.427526	0.18454	13.74	0.99155882767163839	0.53959	0.76974	0.37797	D	AEFDBHCI	0.564811	0.57144	D	-0.363951650050263	0.26763	1.463097	-0.386532372428914	0.25398	1.396471	0.934234573778894	0.27162	0.706548	0.73137	0	0.702456	0.74545	0	0.570548	0.19454	0	0.714379	0.83352	0	.	.	4.85	1.52	0.22158	2.858000	0.48055	-0.124000	0.11690	-0.260000	0.06918	0.990000	0.36992	0.000000	0.08366	0.009000	0.08673	0.0:0.7388:0.0:0.2612	8.821	0.34186	583	0.69484	.	.	.	.	.	rs58750431	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.012588	0.000000	0.006793	0.005848	0.000000	0.000000	0.003049	0.030303	0.07895	4185.79	34	chr19	38815889	.	C	T	4185.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.65;DP=993;ExcessHet=0.3672;FS=0.822;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=11.72;ReadPosRankSum=0.61;SOR=0.627	GT:AD:DP:GQ:PL	0/1:56,59:115:99:1489,0,1309	16	0	3	0
chr19	39268683	39268683	C	G	exonic	IFNL2	.	nonsynonymous SNV	IFNL2:NM_172138:exon2:c.C17G:p.T6S	.	394	1069	58	1	0	60	0.0272975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	.	0.0060	0.0103834	0.0084	0.0015	0.0049	0.0001	0.0005	0.0081	0.0143	0.0235	0.0082405	1274	154602	rs142031126	0.0087	0.0087	0.0081	0.0092	0.0232	0.0086	0.0085	0.0223	0.0220	0.0013	0.0052	0.0127	2.519e-05	0.0011	0.0217	0.0084	0.0089	0.0232	0.0062	0.0062	0.0062	0.0062	0.0251	0.0059	0.0058	0.0214	0.0201	0.0016	0	0.0071	0.0095	0	0.0006	0.0170	0.0086	0.0071	0.0251	0.346	0.12469	T	0.272	0.22223	T	0.017	0.17573	B	0.036	0.22909	B	0.402935	0.04545	N	1.539810	1	0.08975	N	0.205	0.09354	N	2.55	0.13795	T	0.16	0.05217	N	0.09	0.06854	-0.9760	0.35904	T	0.014	0.05369	T	10	0.0037507713	0.00070	T	.	.	.	0.034	0.08419	0.152	0.05544	0.104622674875	0.10061	0.10945525285505907	0.10874	0.282123927823	0.30676	0.33310854435	0.15404	T	0.006617	0.06047	T	-0.721941	0.00027	T	-0.792209	0.02105	T	0.00170357977358575	0.00017	T	0.19678	0.02180	T	0.022907108	0.00988	0.02842597	0.01077	0.022907108	0.00988	0.02842597	0.01077	-3.021	0.10409	T	.	.	0.085	0.10111	B	.	.	-0.061201	0.03878	0.845	0.56440122075619437	0.05553	0.03824	0.09165	N	AEFDGI	0.022517	0.01135	N	-1.1275330983598	0.06157	0.282706	-1.1155589654113	0.07402	0.3599391	0.00107984509852559	0.08194	0.525926	0.21836	0	0.615948	0.52940	0	0.48864	0.07692	0	0.542086	0.14980	0	.	.	3.29	2.18	0.26813	0.602000	0.23833	.	.	-2.382000	0.00299	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.0:0.7638:0.2362:0.0	8.711	0.33543	636	0.64483	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013575	0.000000	0.016349	0.008547	0.000000	0.000000	0.026316	0.027344	0.05263	5102.83	33	chr19	39268683	.	C	G	5102.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.38;DP=1029;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=59.83;MQRankSum=-1;QD=12.36;ReadPosRankSum=2.71;SOR=0.67	GT:AD:DP:GQ:PL	0/1:120,87:207:99:2331,0,3367	17	0	2	0
chr19	40667990	40667993	CTGT	0	exonic	NUMBL	.	.	.	.	0	27	2	1	196	200	0.0689655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6316	853.21	33	chr19	40667990	.	CTGT	*	853.21	.	AC=24;AF=0.632;AN=38;DP=856;ExcessHet=5.6906;FS=0.635;InbreedingCoeff=-0.2859;MLEAC=24;MLEAF=0.632;MQ=60;QD=1.1;SOR=0.605	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:23,23:46:99:.:.:888,0,893:.	1	6	12	0
chr19	40667993	40668002	TTGCTGTTGC	0	exonic	NUMBL	.	.	.	.	438	226	37	0	821	858	0.0756646	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6579	78.42	33	chr19	40667993	.	TTGCTGTTGC	*	78.42	.	AC=25;AF=0.658;AN=38;BaseQRankSum=-1.002;DP=861;ExcessHet=1.8686;FS=0.664;InbreedingCoeff=-0.0857;MLEAC=25;MLEAF=0.658;MQ=60;MQRankSum=0;QD=0.1;ReadPosRankSum=0.057;SOR=0.589	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:20,23:45:99:.:.:1021,0,761:.	1	7	11	0
chr19	41625739	41625739	T	A	exonic	CEACAM4	.	nonsynonymous SNV	CEACAM4:NM_001362492:exon2:c.A286T:p.S96C,CEACAM4:NM_001362495:exon2:c.A286T:p.S96C,CEACAM4:NM_001817:exon2:c.A286T:p.S96C	.	381	1138	3	0	0	3	0.00131637	.	.	.	2779498	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.166	0.00472211459832	.	.	6.593e-05	0	0	0	0	5.998e-05	0	0.0002	5.17e-05	8	154602	rs202066347	3.284e-05	3.283e-05	2.178e-05	4.4e-05	0.0002	2.543e-05	2.249e-05	0.0001	0.0001	2.987e-05	0	0	0	0	0	2.338e-05	6.624e-05	0.0002	6.576e-06	6.568e-06	1.286e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.01	0.56456	D	0.001	0.83351	D	0.69	0.41631	P	0.455	0.46267	P	.	.	.	.	1	0.08975	N	2.575	0.75298	M	-0.44	0.69777	T	-4.74	0.80172	D	0.199	0.22742	-0.5517	0.66723	T	0.483	0.80255	T	9	0.3362785	0.50770	T	0.004722	0.11753	T	0.166	0.42578	0.729	0.86286	0.510407551169	0.50681	0.16208747179313437	0.16129	0.195422479786	0.21877	0.299593836069	0.10340	T	0.258914	0.63012	T	-0.309219	0.07816	T	-0.3898	0.34575	T	0.428560048341751	0.30007	T	.	.	.	0.52299315	0.68431	0.26861876	0.52733	0.52299315	0.68433	0.26861876	0.52732	-9.969	0.73726	D	.	.	0.490	0.66635	A	.;.	.;.	2.063115	0.26232	17.05	0.97853035338544492	0.36412	0.00923	0.03588	N	AEFDBI	0.036526	0.04880	N	-0.353483623604557	0.27144	1.486937	-0.68294563179408	0.17387	0.9243006	0.999545781126453	0.40300	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.76	0.613	0.16773	0.277000	0.18496	0.326000	0.17235	0.331000	0.19555	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	0.0:0.0:0.3496:0.6504	4.457	0.11068	840	0.37365	Immunoglobulin V-set domain|Immunoglobulin-like domain;Immunoglobulin V-set domain|Immunoglobulin-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2925.33	34	chr19	41625739	.	T	A	2925.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.689;DP=846;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.4;ReadPosRankSum=-0.743;SOR=0.721	GT:AD:DP:GQ:PL	0/1:84,106:190:99:2939,0,2143	18	0	1	0
chr19	41902802	41902802	C	T	exonic	ARHGEF1	.	nonsynonymous SNV	ARHGEF1:NM_198977:exon17:c.C1543T:p.R515W,ARHGEF1:NM_004706:exon18:c.C1642T:p.R548W,ARHGEF1:NM_199002:exon18:c.C1687T:p.R563W	.	.	.	.	.	.	.	.	.	.	.	1509740	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.172	0.271559492242	.	.	3.382e-05	0	0	0	0	6.202e-05	0	0	4.53e-05	7	154602	rs782602658	1.985e-05	1.984e-05	2.044e-05	1.927e-05	2.519e-05	1.393e-05	1.204e-05	1.377e-05	1.15e-05	0	0	0	2.519e-05	0	0	2.068e-05	4.969e-05	2.319e-05	6.57e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.036	0.43393	D	0.189	0.30143	T	0.877	0.90584	P	0.342	0.82059	B	0.001104	0.40219	N	0.164332	0.984607	0.24786	N	1.545	0.39105	L	-0.11	0.64445	T	-3.25	0.65283	D	0.269	0.37613	-0.6994	0.60467	T	0.296	0.66773	T	10	0.28487206	0.46069	T	0.271559	0.89898	D	0.172	0.43662	0.446	0.50466	0.631262190296	0.62824	0.9031703482746946	0.90290	2.3112671158	0.96577	0.608030200005	0.54037	T	0.688973	0.90938	D	-0.3172	0.07129	T	-0.495095	0.22857	T	0.7845458984375	0.45336	D	0.983102	0.94254	D	0.24232925	0.47159	0.15033348	0.35459	0.24232925	0.47158	0.15033348	0.35458	-7.98	0.60934	D	.	.	0.405	0.61067	A	.;.;.;.;.	.;.;.;.;.	2.362984	0.30314	18.40	0.99526692513196113	0.69591	0.54902	0.29730	D	AEFBI	0.502298	0.53477	D	-0.590908542884802	0.19220	1.004184	-0.815714379425151	0.14115	0.7358536	0.902127945034692	0.26118	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.53	-2.57	0.05885	0.856000	0.27473	-0.441000	0.09160	-0.180000	0.10397	0.005000	0.17040	0.000000	0.08366	0.514000	0.29336	0.5305:0.3903:0.0:0.0791	7.845	0.28582	654	0.62520	Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1493.33	40	chr19	41902802	.	C	T	1493.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.78;DP=788;ExcessHet=0;FS=1.519;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.34;ReadPosRankSum=0.884;SOR=0.555	GT:AD:DP:GQ:PL	0/1:65,56:121:99:1507,0,1541	18	0	1	0
chr19	42402689	42402691	GAG	-	exonic	LIPE	.	nonframeshift deletion	LIPE:NM_005357:exon9:c.2883_2885del:p.S962del	Lipodystrophy, familial partial, type 6, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8e-05	0.000599042	0.0003	0	0	0	0	6.26e-05	0.0013	0.0036	0.0002911	45	154602	rs372004452	0.0002	0.0002	0.0002	0.0003	0.0028	0.0002	0.0002	0.0025	0.0024	3.303e-05	6.502e-05	0	7.83e-05	0	0.0006	8.952e-05	0.0002	0.0028	0.0002	0.0002	0.0002	0.0002	0.0039	0.0001	0.0001	0.0026	0.0021	7.231e-05	0	0	0	0	0	0	7.355e-05	0	0.0039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	1015.29	38	chr19	42402688	.	TGAG	T	1015.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.054;DP=675;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=21.15;ReadPosRankSum=0.374;SOR=0.62	GT:AD:DP:GQ:PL	0/1:21,27:48:99:1029,0,801	18	0	1	0
chr19	42935721	42935721	A	G	exonic	PSG7	.	nonsynonymous SNV	PSG7:NM_002783:exon2:c.T113C:p.I38T	.	10	1510	1	1	0	3	0.000992392	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.7e-05	0.000399361	0.0001	0	0.0002	0	0	0.0002	0	0	0.00011	17	154602	rs1387014907	9.995e-05	0.0001	9.4e-05	0.0001	0.0009	8.652e-05	8.14e-05	0.0003	0.0003	2.989e-05	0.0005	0	0	0	0.0009	9.719e-05	0.0002	0	9.259e-05	9.195e-05	9.049e-05	9.478e-05	0.0001	5.562e-05	4.392e-05	7.935e-05	6.013e-05	4.86e-05	0	0.0001	0	0	0	0	0.0001	0	0	.	.	.	0.039	0.51112	D	0.96	0.55278	D	0.955	0.69585	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.21056	.	.	.	.	.	.	.	0.037228853	0.02065	T	.	.	.	.	.	.	.	0.0482279557977	0.04254	.	.	.	.	.	.	.	0.094994	0.39530	T	-0.261153	0.12766	T	-0.265733	0.48250	T	.	.	.	0.724128	0.33779	T	0.066462256	0.14303	0.12818275	0.30844	0.066462256	0.14303	0.12818275	0.30843	-6.201	0.47931	T	.	.	0.117	0.23744	B	.;.	.;.	2.103161	0.26757	17.23	0.97392712181726493	0.33731	0.01026	0.03852	N	AEFBI	0.019652	0.00702	N	.	.	.	.	.	.	0.00135162203020229	0.08470	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.062806	0.01542	0	.	.	1.41	0.331	0.15174	0.677000	0.24942	3.765000	0.39732	0.513000	0.23382	0.007000	0.17678	0.059000	0.21998	0.002000	0.04165	0.7542:0.0:0.2458:0.0	3.363	0.06773	778	0.48011	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000534	0.000000	0.001362	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	3560.33	78	chr19	42935721	.	A	G	3560.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.324;DP=1707;ExcessHet=0;FS=0.446;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.75;MQRankSum=2.12;QD=12.19;ReadPosRankSum=-1.076;SOR=0.656	GT:AD:DP:GQ:PL	0/1:155,137:292:99:3574,0,4205	18	0	1	0
chr19	43919614	43919614	C	T	exonic	ZNF45	.	nonsynonymous SNV	ZNF45:NM_003425:exon8:c.G101A:p.R34Q	.	.	.	.	.	.	.	.	.	.	.	3354196	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.016	0.002361741247	.	.	8.237e-06	0	8.639e-05	0	0	0	0	0	1.94e-05	3	154602	rs775164589	2.191e-05	2.189e-05	1.907e-05	2.477e-05	8.949e-05	1.585e-05	1.357e-05	2.986e-05	1.805e-05	0	8.949e-05	0	0	0	0	2.43e-05	1.657e-05	0	2.629e-05	2.627e-05	5.141e-05	0	4.829e-05	8.14e-06	5.14e-06	8e-06	2.99e-06	4.829e-05	0	0	0	0	0	0	2.94e-05	0	0	0.332	0.13045	T	0.318	0.19246	T	0.035	0.20614	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	1.1	0.28011	L	4.24	0.02590	T	-1.16	0.29727	N	0.093	0.07262	-0.9521	0.40608	T	0.008	0.02638	T	9	0.04228127	0.02963	T	0.002362	0.04590	T	0.016	0.02506	.	.	0.170165803431	0.16609	0.10601623996060602	0.10531	0.21363709283	0.23881	0.186939567327	0.00176	T	0.026613	0.19659	T	-0.444362	0.01219	T	-0.793206	0.02078	T	0.0470829842823157	0.04980	T	0.0468953	0.00335	T	0.020758785	0.00647	0.042668525	0.05134	0.020758785	0.00647	0.042668525	0.05134	-5.883	0.45290	T	.	.	0.076	0.08512	B	.;.;.	.;.;.	0.225615	0.06073	2.518	0.85005649536255601	0.15628	0.01564	0.05113	N	AEFDBI	0.027975	0.02381	N	-1.32375876304843	0.03405	0.1520418	-1.38260537724474	0.03437	0.1603227	5.41359081259397E-4	0.07273	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	3.79	-4.24	0.03519	-1.161000	0.03255	.	.	-1.913000	0.00513	0.000000	0.06391	0.000000	0.08366	0.636000	0.32315	0.0:0.3898:0.0:0.6102	8.843	0.34310	850	0.35610	Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	3035.33	38	chr19	43919614	.	C	T	3035.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.326;DP=1096;ExcessHet=0;FS=3.166;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.88;ReadPosRankSum=0.942;SOR=0.502	GT:AD:DP:GQ:PL	0/1:92,112:204:99:3049,0,2430	18	0	1	0
chr19	43966527	43966527	C	T	exonic	ZNF221	.	nonsynonymous SNV	ZNF221:NM_001297588:exon5:c.C1025T:p.T342I,ZNF221:NM_001297589:exon5:c.C1025T:p.T342I,ZNF221:NM_013359:exon6:c.C1025T:p.T342I	.	403	1101	18	0	0	18	0.00810811	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	.	0.0059	0.00359425	0.0062	0.0012	0.0047	0.0002	0.0027	0.0089	0.0055	0.0040	0.0059249	916	154602	rs56023723	0.0073	0.0073	0.0072	0.0074	0.0111	0.0072	0.0071	0.0089	0.0081	0.0013	0.0056	0.0191	2.519e-05	0.0026	0.0111	0.0080	0.0072	0.0037	0.0057	0.0057	0.0062	0.0051	0.0087	0.0054	0.0053	0.0081	0.0079	0.0013	0.0033	0.0069	0.0170	0.0002	0.0021	0.0136	0.0087	0.0071	0.0035	0.078	0.33923	T	0.011	0.64786	D	0.0	0.02946	B	0.007	0.12992	B	.	.	.	.	1	0.08975	N	-0.415	0.02918	N	2.3	0.16953	T	-1.8	0.42384	N	0.075	0.05287	-0.9479	0.41330	T	0.009	0.03271	T	9	0.0060515106	0.00136	T	.	.	.	0.050	0.13987	.	.	0.0401082797425	0.02173	.	.	0.0241402631145	0.02450	0.303737193346	0.10960	T	0.010907	0.09797	T	-0.738337	0.00021	T	-0.826807	0.01320	T	0.00472865501355915	0.00051	T	0.136386	0.01077	T	0.027148634	0.01866	0.08603125	0.19904	0.027148634	0.01866	0.08603125	0.19903	-1.614	0.02014	T	.	.	0.091	0.13080	B	.;.;.;.	.;.;.;.	-0.879671	0.00960	0.038	0.63319774181903199	0.07193	0.01812	0.05644	N	AEFBHCI	0.036465	0.04863	N	-2.01210049894588	0.00199	0.00853707	-2.10076132793371	0.00186	0.008175531	0.292126304102952	0.19098	0.562547	0.31514	0	0.546412	0.12157	0	0.608884	0.39905	0	0.491896	0.07777	0	.	.	2.54	-5.08	0.02708	-3.283000	0.00584	.	.	-1.124000	0.01467	0.000000	0.06391	0.000000	0.08366	0.137000	0.19835	0.1916:0.6894:0.0:0.119	11.167	0.47773	656	0.62345	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007056	0.000000	0.008152	0.000000	0.000000	0.000000	0.018293	0.000000	0.05263	7739.83	169	chr19	43966527	.	C	T	7739.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-2.565;DP=3498;ExcessHet=0.119;FS=4.02;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.63;ReadPosRankSum=0.716;SOR=0.47	GT:AD:DP:GQ:PL	0/1:132,142:274:99:3758,0,3731	17	0	2	0
chr19	44288548	44288548	T	C	exonic	ZNF235	.	nonsynonymous SNV	ZNF235:NM_004234:exon5:c.A887G:p.H296R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.00112293635069	.	.	4.122e-05	0	0	0	0	7.496e-05	0	0	3.23e-05	5	154602	rs2125579	2.463e-05	2.463e-05	2.45e-05	2.475e-05	0.0007	1.803e-05	1.6e-05	0.0002	0.0001	0	0	0	0	0	0.0007	2.698e-05	3.312e-05	0	6.579e-06	6.568e-06	0	1.347e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.389	0.10874	T	0.375	0.16231	T	0.001	0.07471	B	0.002	0.08700	B	0.324715	0.04095	N	1.533750	1	0.08975	P	0.85	0.21244	L	2.48	0.14657	T	-1.55	0.37566	N	0.06	0.03175	-0.9876	0.33200	T	0.024	0.10013	T	9	0.08312899	0.13795	T	0.001123	0.01360	T	0.075	0.21907	0.465	0.53566	0.115124310173	0.11017	0.02331062939604126	0.02283	0.086922727421	0.09802	0.188506558537	0.00200	T	0.007868	0.07247	T	-0.494129	0.00617	T	-0.767262	0.02859	T	0.126550987362862	0.15060	T	0.0378962	0.00263	T	0.027977536	0.02066	0.037474345	0.03407	0.027977536	0.02066	0.037474345	0.03407	-4.375	0.29421	T	.	.	0.056	0.00505	B	.;.	.;.	-1.427929	0.00341	0.006	0.36171443725888808	0.02312	0.01592	0.05174	N	AEFGBI	0.031006	0.03231	N	-1.40515158231953	0.02593	0.1147209	-1.56212404850676	0.01893	0.08635255	0.990358499467191	0.32125	0.562547	0.31514	0	0.653731	0.59785	0	0.463624	0.06942	0	0.491896	0.07777	0	.	.	4.32	-8.64	0.00758	-1.557000	0.02270	.	.	-0.123000	0.13640	0.000000	0.06391	.	.	0.001000	0.02609	0.0:0.3701:0.4061:0.2238	8.937	0.34869	917	0.20147	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	74203.1	219	chr19	44288548	.	T	C	74203.1	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.25;DP=3197;ExcessHet=0.5777;FS=0.65;InbreedingCoeff=0.1044;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=24.35;ReadPosRankSum=1.15;SOR=0.608	GT:AD:DP:GQ:PL	0/1:0,75:169:99:4821,2741,2516	18	0	1	0
chr19	47072577	47072577	G	A	exonic	ZC3H4	.	nonsynonymous SNV	ZC3H4:NM_015168:exon12:c.C1577T:p.P526L	.	.	.	.	.	.	.	.	.	.	.	3353292	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.064	.	.	0.000199681	0.0008	0	0	0	0	0.0014	0.0101	0.0003	0.0002199	34	154602	rs551623720	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0001	8.098e-05	6.042e-05	0.0001	0.0085	2.571e-05	0	0.0002	5.276e-05	0.0009	0.0002	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	7.324e-05	3.041e-05	0	0	0	0.0069	0	0	0	5.892e-05	0.0005	0.0004	0.008	0.58626	D	0.003	0.76473	D	0.778	0.44187	P	0.186	0.36104	B	.	.	.	.	0.999699	0.48338	D	2.34	0.67151	M	2.24	0.17923	T	-2.86	0.60188	D	0.261	0.29544	-1.0959	0.04625	T	0.038	0.16591	T	9	0.0055454075	0.00122	T	.	.	.	0.064	0.18567	.	.	0.043077524339	0.03247	.	.	0.447694606286	0.44630	0.767300009727	0.77020	T	0.492932	0.81669	T	-0.3042	0.08269	T	-0.405439	0.32752	T	0.0666461533822215	0.08172	T	0.746125	0.36682	T	0.110795096	0.26186	0.14705734	0.34816	0.110795096	0.26185	0.14705734	0.34815	-6.877	0.53129	T	.	.	0.134	0.29032	B	.	.	3.705541	0.52874	23.3	0.76039780337464047	0.11309	0.72896	0.35666	D	AEFBI	0.160497	0.28644	N	0.0499113984823548	0.44138	2.693393	0.0571498214903608	0.42417	2.565331	0.994194827779315	0.33529	0.751926	0.98777	0	0.639134	0.57113	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.69	4.69	0.58546	3.900000	0.56008	10.999000	0.84752	0.569000	0.28856	1.000000	0.71638	1.000000	0.68203	0.466000	0.28252	0.0:0.0:1.0:0.0	16.445	0.83766	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	0.002599	0.000000	0.001359	0.006897	0.000000	0.000000	0.000000	0.003817	0.02632	297.33	19	chr19	47072577	.	G	A	297.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.69;DP=374;ExcessHet=0;FS=0;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.87;ReadPosRankSum=-0.114;SOR=1.329	GT:AD:DP:GQ:PL	0/1:10,10:20:99:311,0,230	18	0	1	0
chr19	48443875	48443875	G	A	exonic	GRIN2D	.	nonsynonymous SNV	GRIN2D:NM_000836:exon14:c.G3949A:p.G1317S	Epileptic encephalopathy, early infantile, 46, Autosomal dominant	439	1065	17	1	0	19	0.00884132	.	.	.	1610322	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.035	.	.	0.0123802	0.0528	0	0.0312	0	0	0.0064	0.0125	0.0720	0.0048641	752	154602	rs191119443	0.0059	0.0058	0.0044	0.0074	0.0551	0.0058	0.0058	0.0537	0.0531	0.0005	0.0040	0.0047	3.448e-05	9.159e-05	0.0051	0.0030	0.0066	0.0551	0.0038	0.0037	0.0032	0.0043	0.0555	0.0035	0.0034	0.0501	0.0479	0.0008	0	0.0037	0.0040	0.0004	0	0	0.0028	0.0033	0.0555	0.401	0.10447	T	0.616	0.07543	T	0.011	0.15914	B	0.01	0.14941	B	0.911519	0.08549	U	0.924145	0.986144	0.24644	N	-0.205	0.04094	N	2.96	0.09542	T	0.17	0.05125	N	0.166	0.17553	-0.9666	0.37894	T	0.005	0.01725	T	10	0.0019791722	0.00028	T	.	.	.	0.035	0.08770	.	.	.	.	0.14639003486082292	0.14561	.	.	0.900060594082	0.96447	D	0.046192	0.27349	T	-0.613197	0.00121	T	-0.612612	0.11774	T	0.0198147061849218	0.00683	T	0.567543	0.20130	T	0.062713966	0.13127	0.07339499	0.15944	0.068769485	0.15009	0.07339499	0.15943	-3.692	0.19200	T	.	.	0.106	0.19839	B	.	.	3.550016	0.49897	22.9	0.9749647172538225	0.34272	0.39949	0.26327	N	AEFDBCI	0.124563	0.24068	N	-0.495661383120007	0.22223	1.185071	-0.335326958120525	0.26967	1.493161	0.999996145135024	0.74766	0.700653	0.57754	0	0.596491	0.49125	0	0.717052	0.78885	0	0.63947	0.58350	0	.	.	3.24	3.24	0.36257	1.751000	0.37967	10.920000	0.84231	0.504000	0.22967	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.1385:0.0:0.8615:0.0	6.535	0.21543	958	0.09170	.	.	.	.	.	rs191119443	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.010808	0.006494	0.004601	0.009615	0.000000	0.000000	0.017730	0.021186	0.07895	1272.79	34	chr19	48443875	.	G	A	1272.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.337;DP=460;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=13.99;ReadPosRankSum=-1.358;SOR=0.75	GT:AD:DP:GQ:PL	0/1:18,14:32:99:338,0,414	16	0	3	0
chr19	48745729	48745729	T	C	exonic	IZUMO1	.	nonsynonymous SNV	IZUMO1:NM_182575:exon2:c.A131G:p.H44R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.013548312624	.	.	8.237e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs748592828	6.84e-07	6.84e-07	0	1.375e-06	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	0.17126	T	0.23	0.25135	T	0.713	0.42139	P	0.303	0.41149	B	0.000458	0.44317	N	0.101942	0.943838	0.26709	N	1.9	0.50570	L	2.11	0.19860	T	-4.86	0.81187	D	0.396	0.43706	-1.0696	0.09501	T	0.046	0.19599	T	10	0.29339552	0.46914	T	0.013548	0.33038	T	0.137	0.36984	0.337	0.32654	0.237489013734	0.23353	0.7517866746678213	0.75125	1.24422842172	0.81626	0.425935268402	0.28653	T	0.321012	0.69215	T	-0.198937	0.20958	T	-0.426682	0.30313	T	0.739437699317932	0.42707	D	0.626037	0.24205	T	0.48632398	0.66282	0.3794223	0.62997	0.48632398	0.66283	0.3794223	0.62997	-5.965	0.45986	T	.	.	0.426	0.60978	A	.	.	2.451626	0.31569	18.78	0.84925999261936636	0.15580	0.57655	0.30434	D	AEFDBI	0.169310	0.29613	N	-0.19227900771772	0.33455	1.898222	-0.234205689381497	0.30320	1.706095	0.999922273885198	0.46280	0.608966	0.35542	0	0.578056	0.33634	0	0.769059	0.98459	0	0.526803	0.08958	0	.	.	5.01	3.97	0.45241	1.401000	0.34198	0.270000	0.16646	0.665000	0.62972	0.978000	0.35038	0.996000	0.32793	0.288000	0.24212	0.1743:0.0:0.0:0.8257	8.433	0.31930	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	.	.	.	.	.	.	.	.	0.02632	2056.33	41	chr19	48745729	.	T	C	2056.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.77;DP=857;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.24;ReadPosRankSum=-1.528;SOR=0.673	GT:AD:DP:GQ:PL	0/1:92,91:183:99:2070,0,2349	18	0	1	0
chr19	49430667	49430667	C	A	exonic	SLC17A7	.	nonsynonymous SNV	SLC17A7:NM_020309:exon12:c.G1535T:p.G512V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.0207024556571	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.35165	T	0.065	0.44702	T	0.417	0.35244	B	0.142	0.33681	B	0.031338	0.25183	N	0.292894	0.999999	0.58761	D	0.695	0.17993	N	-0.08	0.63911	T	-1.51	0.36787	N	0.151	0.16864	-0.9970	0.30755	T	0.121	0.42079	T	10	0.118993044	0.22509	T	0.020702	0.43346	T	0.063	0.18251	0.262	0.20631	0.082315109003	0.07666	0.2973517915138093	0.29648	0.0706932169073	0.07925	0.578177452087	0.49829	T	0.420147	0.77194	T	-0.0565565	0.43443	T	-0.319016	0.42682	T	0.388729283117756	0.28516	T	0.941706	0.78221	D	0.11555089	0.27266	0.13435932	0.32197	0.11555089	0.27265	0.13435932	0.32196	-4.462	0.32071	T	.	.	0.184	0.39848	B	.;.	.;.	3.947979	0.57820	23.9	0.99120864080146531	0.52985	0.91552	0.53768	D	AEFDGBCI	0.762556	0.69993	D	0.00639864534157422	0.42146	2.533908	0.14467291012475	0.46860	2.925211	0.999999987871485	0.74766	0.475244	0.09938	2	0.541168	0.11318	0	0.641878	0.46077	1	0.63947	0.58350	0	.	.	4.68	3.65	0.40985	3.986000	0.56647	5.801000	0.49937	0.549000	0.26987	0.993000	0.37899	1.000000	0.68203	0.991000	0.66497	0.0:0.8078:0.0:0.1922	6.423	0.20958	862	0.33134	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2027.33	34	chr19	49430667	.	C	A	2027.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.192;DP=814;ExcessHet=0;FS=1.267;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13;ReadPosRankSum=-0.768;SOR=0.558	GT:AD:DP:GQ:PL	0/1:79,77:156:99:2041,0,2132	18	0	1	0
chr19	50961768	50961768	C	G	exonic	KLK6	.	nonsynonymous SNV	KLK6:NM_001012965:exon4:c.G237C:p.E79D,KLK6:NM_001319949:exon4:c.G237C:p.E79D,KLK6:NM_001012964:exon5:c.G558C:p.E186D,KLK6:NM_001319948:exon5:c.G237C:p.E79D,KLK6:NM_002774:exon6:c.G558C:p.E186D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.0253049027962	.	.	1.652e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs780618962	2.805e-05	2.805e-05	1.089e-05	4.538e-05	0.0005	2.087e-05	1.878e-05	0.0003	0.0003	0	0	0	0	0	0	0	1.656e-05	0.0005	6.57e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.282	0.15406	T	0.529	0.10138	T	0.0	0.19245	B	0.003	0.21332	B	0.261011	0.15315	N	0.480599	1	0.08975	N	0.105	0.08473	N	-2.44	0.88767	D	-0.94	0.28906	N	0.13	0.12484	-0.5944	0.65044	T	0.407	0.75628	T	10	0.075995445	0.11816	T	0.025305	0.48284	D	0.114	0.32008	0.456	0.52102	0.898879924185	0.89787	0.4690689483471357	0.46825	0.229822010945	0.25536	0.345213413239	0.17215	T	0.232713	0.59934	T	-0.291808	0.09455	T	-0.340782	0.40255	T	0.0376730556855447	0.03274	T	0.916008	0.70013	D	0.25683668	0.48725	0.12668844	0.30509	0.25683668	0.48725	0.12668844	0.30508	-4.58	0.32596	T	.	.	0.178	0.41433	B	.;.;.;.	.;.;.;.	0.907931	0.12819	9.336	0.98886202320422845	0.47912	0.08663	0.14560	N	AEFDBI	0.096000	0.19388	N	-0.874725614092154	0.11446	0.5524101	-0.849639675961514	0.13296	0.6889672	1.81901561811325E-4	0.05844	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	3.91	1.65	0.23015	0.195000	0.16960	1.335000	0.25696	-0.258000	0.06954	0.000000	0.06391	0.001000	0.17328	0.002000	0.04165	0.0:0.6809:0.2041:0.115	5.453	0.15869	912	0.21483	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;.;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1050.33	44	chr19	50961768	.	C	G	1050.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.746;DP=733;ExcessHet=0;FS=7.159;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.07;ReadPosRankSum=0.162;SOR=1.501	GT:AD:DP:GQ:PL	0/1:46,41:87:99:1064,0,1313	18	0	1	0
chr19	52016507	52016507	G	A	exonic	ZNF614	.	nonsynonymous SNV	ZNF614:NM_025040:exon5:c.C1091T:p.T364I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.190	0.000698247110904	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.20683	T	0.259	0.23097	T	1.0	0.90584	D	0.988	0.77976	D	.	.	.	.	1	0.08975	N	0.13	0.08652	N	2.66	0.12575	T	-4.73	0.80085	D	0.088	0.06587	-1.0519	0.13872	T	0.034	0.14596	T	9	0.24871445	0.42172	T	6.98E-4	0.00435	T	0.190	0.46781	0.479	0.55823	0.427139414373	0.42328	0.022337320222243565	0.02185	0.603633865928	0.55333	0.543269991875	0.44907	T	0.055808	0.30109	T	-0.149071	0.28458	T	-0.451906	0.27487	T	0.848348736763	0.50023	D	0.361264	0.08331	T	0.16427074	0.36623	0.23762372	0.49064	0.16427074	0.36623	0.23762372	0.49063	-5.658	0.43318	T	.	.	0.443	0.61842	A	.	.	2.885708	0.38205	20.7	0.99819938450512558	0.90326	0.00200	0.01150	N	AEFBCI	0.039683	0.05799	N	-0.0662150739336025	0.38881	2.284124	-0.0939042546559885	0.35642	2.06446	0.0182562603588857	0.13038	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	3.8	2.69	0.30923	1.303000	0.33075	.	.	0.520000	0.23804	0.000000	0.06391	0.000000	0.08366	0.989000	0.64315	0.119:0.0:0.881:0.0	10.340	0.43053	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	.	.	.	.	.	.	.	.	0.02632	1990.33	41	chr19	52016507	.	G	A	1990.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.723;DP=1377;ExcessHet=0;FS=3.192;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.19;ReadPosRankSum=-0.188;SOR=1.002	GT:AD:DP:GQ:PL	0/1:56,75:131:99:2004,0,1522	18	0	1	0
chr19	52116724	52116724	C	T	exonic	ZNF616	.	nonsynonymous SNV	ZNF616:NM_178523:exon4:c.G440A:p.R147H	.	428	1092	2	0	0	2	0.000914913	.	.	.	2338576	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.040	0.000683238555942	0.0003	.	0.0002	0	8.64e-05	0	0	0.0003	0.0011	0.0001	0.000207	32	154602	rs143649418	0.0003	0.0003	0.0004	0.0003	0.0004	0.0003	0.0003	0.0004	0.0004	2.987e-05	8.944e-05	0	0	1.873e-05	0.0002	0.0004	0.0001	5.797e-05	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	0.0001	0.0002	0.0002	0.0001	0	0.0002	0	0	0	0	0.0003	0	0	.	.	.	0.995	0.02336	T	0.001	0.07471	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.805	0.01590	N	2.51	0.14284	T	.	.	.	0.018	0.00252	-0.9995	0.30058	T	0.016	0.06425	T	8	0.022433788	0.00560	T	6.83E-4	0.00400	T	.	.	.	.	0.0884992946249	0.08302	0.02511800881417815	0.02462	0.0787164710794	0.08858	0.205152213573	0.00622	T	0.002309	0.01710	T	-0.589778	0.00168	T	-0.78323	0.02357	T	0.00516877187200962	0.00056	T	0.0661934	0.00482	T	0.009218272	0.00002	0.02545838	0.00591	0.009218272	0.00002	0.02545838	0.00591	-2.054	0.03392	T	.	.	0.082	0.08657	B	.	.	-0.771930	0.01163	0.055	0.055863034064743085	0.00013	0.00002	0.00064	N	AEFGBCI	0.019420	0.00672	N	-1.68708581261934	0.00889	0.03845319	-1.71431756540191	0.01075	0.04828784	0.00321611007266555	0.09995	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	1.64	-2.76	0.05547	-0.141000	0.10308	.	.	-1.031000	0.01692	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2241:0.3467:0.0:0.4293	2.756	0.04967	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	2790.33	40	chr19	52116724	.	C	T	2790.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.7;DP=980;ExcessHet=0;FS=1.638;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.92;ReadPosRankSum=0.053;SOR=0.738	GT:AD:DP:GQ:PL	0/1:110,106:216:99:2804,0,2633	18	0	1	0
chr19	52582831	52582831	C	T	exonic	ZNF701	.	nonsynonymous SNV	ZNF701:NM_018260:exon4:c.C772T:p.L258F,ZNF701:NM_001172655:exon5:c.C970T:p.L324F	.	.	.	.	.	.	.	.	.	.	.	2256963	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.084	0.00402974244337	.	.	.	.	.	.	.	.	.	.	.	.	.	rs561925183	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	6.573e-06	6.567e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.045	0.44358	D	0.062	0.47336	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.265	0.31966	L	2.9	0.10101	T	-3.46	0.68178	D	0.22	0.26957	-1.1003	0.04055	T	0.063	0.26279	T	9	0.4455901	0.58375	T	0.00403	0.09587	T	0.084	0.24469	0.764	0.89213	0.265010934533	0.26120	0.022585432950168988	0.02210	0.268949311716	0.29407	0.295427501202	0.09720	T	0.222931	0.58693	T	-0.233045	0.16248	T	-0.57253	0.15218	T	0.719521211542222	0.41674	D	0.039696	0.00287	T	0.15262745	0.34638	0.1600704	0.37302	0.15262745	0.34638	0.1600704	0.37301	-6.643	0.51380	T	.	.	0.501	0.68433	A	.;.;.	.;.;.	2.003927	0.25460	16.77	0.9954601218154695	0.70836	0.07249	0.13273	N	AEFDBI	0.040213	0.05950	N	-0.225855923653461	0.32075	1.805144	-0.52139976701089	0.21573	1.16763	0.00254755439286046	0.09519	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	1.48	1.48	0.21900	0.811000	0.26855	.	.	0.401000	0.20554	0.015000	0.19116	0.000000	0.08366	0.006000	0.07323	0.0:1.0:0.0:0.0	9.941	0.40750	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	.	.	.	.	.	.	.	.	0.02632	3803.33	207	chr19	52582831	.	C	T	3803.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.43;DP=3143;ExcessHet=0;FS=4.19;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.8;ReadPosRankSum=-0.291;SOR=0.682	GT:AD:DP:GQ:PL	0/1:116,141:257:99:3817,0,2996	18	0	1	0
chr19	54983434	54983434	C	T	exonic	NLRP2	.	nonsynonymous SNV	NLRP2:NM_001174082:exon5:c.C1670T:p.P557L,NLRP2:NM_001174081:exon6:c.C1736T:p.P579L,NLRP2:NM_001348003:exon6:c.C1727T:p.P576L,NLRP2:NM_017852:exon6:c.C1736T:p.P579L,NLRP2:NM_001174083:exon7:c.C1667T:p.P556L	.	1	1509	12	0	0	12	0.0039604	.	.	.	3213726	NLRP2-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.047	.	0.0007	0.00299521	0.0021	0.0003	0.0004	0	0	0.0008	0.0011	0.0119	0.0019017	294	154602	rs149897717	0.0014	0.0014	0.0012	0.0017	0.0109	0.0014	0.0014	0.0104	0.0101	0.0002	0.0003	0.0007	2.519e-05	0	0.0028	0.0009	0.0014	0.0109	0.0008	0.0008	0.0007	0.0009	0.0100	0.0007	0.0006	0.0077	0.0069	0.0002	0	0.0004	0.0003	0	0	0.0034	0.0008	0.0009	0.0100	1.0	0.00964	T	0.33	0.18675	T	0.015	0.19245	B	0.002	0.11217	B	0.005687	0.01090	N	3.947260	1	0.08975	N	0.61	0.15665	N	-0.8	0.73845	T	0.66	0.02638	N	0.12	0.11197	-0.9913	0.32270	T	0.209	0.56906	T	10	0.0066336095	0.00150	T	.	.	.	0.047	0.12962	.	.	0.523650220922	0.52011	0.09322517985177575	0.09254	0.0456806916263	0.04958	0.233090355992	0.02204	T	0.021155	0.16527	T	-0.506753	0.00524	T	-0.491297	0.23255	T	0.000592152556546238	0.00005	T	.	.	.	0.019879818	0.00529	0.02972352	0.01343	0.019879818	0.00529	0.02972352	0.01343	-4.284	0.28302	T	.	.	0.095	0.16670	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-1.368701	0.00383	0.007	0.32901926915320839	0.01931	0.01018	0.03833	N	AEFDGBI	0.058314	0.10932	N	-1.73101622409608	0.00737	0.03184456	-1.84456676417532	0.00627	0.02786181	0.00494558523825066	0.10771	0.706298	0.61202	0	0.709663	0.81188	0	0.576033	0.28219	0	0.655142	0.61905	0	.	.	1.79	-3.32	0.04663	-1.623000	0.02143	.	.	-1.102000	0.01507	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.482:0.2189:0.2992	4.392	0.10775	895	0.25842	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.004028	0.010101	0.000000	0.002924	0.000000	0.000000	0.009146	0.007576	0.02632	3385.33	34	chr19	54983434	.	C	T	3385.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.05;DP=2347;ExcessHet=0;FS=2.965;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.98;ReadPosRankSum=0.024;SOR=0.914	GT:AD:DP:GQ:PL	0/1:108,118:226:99:3399,0,2724	18	0	1	0
chr19	55358524	55358524	C	0	exonic	FAM71E2	.	.	.	.	438	22	102	3	957	1065	0.710526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8947	3628.45	124	chr19	55358524	.	C	*	3628.45	.	AC=34;AF=0.895;AN=38;DP=2110;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=34;MLEAF=0.895;MQ=60;QD=2.07;SOR=0.847	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:60,59:119:99:.:.:2305,0,2320:.	0	15	4	0
chr19	55358535	55358535	T	0	exonic	FAM71E2	.	.	.	.	454	13	102	3	950	1058	0.80597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8947	3915.38	124	chr19	55358535	.	T	*	3915.38	.	AC=34;AF=0.895;AN=38;DP=2124;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=34;MLEAF=0.895;MQ=60;QD=2.23;SOR=0.837	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:60,59:119:99:.:.:2305,0,2320:.	0	15	4	0
chr19	58571146	58571146	G	C	exonic	MZF1	.	nonsynonymous SNV	MZF1:NM_001267033:exon2:c.C244G:p.Q82E,MZF1:NM_003422:exon2:c.C244G:p.Q82E,MZF1:NM_198055:exon2:c.C244G:p.Q82E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	0.00567561728848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.005	0.92824	D	0.942	0.52977	P	0.788	0.57636	P	0.003080	0.35480	N	0.000000	0.72539	0.33661	D	2.08	0.57402	M	3.23	0.06931	T	-2.03	0.46673	N	0.655	0.66529	-0.9213	0.45376	T	0.074	0.29897	T	9	0.6078953	0.67278	D	0.005676	0.14681	T	0.172	0.43662	0.749	0.87988	0.587478218395	0.58422	0.40978173929432204	0.40894	0.370738333658	0.38584	0.710194826126	0.68622	T	0.139101	0.61654	T	-0.128639	0.31715	T	-0.422558	0.30783	T	0.909407377243042	0.56430	D	0.854814	0.54193	D	0.74599224	0.80636	0.75882417	0.85749	0.74599224	0.80637	0.75882417	0.85750	-6.619	0.51199	T	.	.	0.072	0.11461	B	.;.;.;.	.;.;.;.	3.124869	0.42199	21.5	0.99438872672531409	0.64670	0.92854	0.56708	D	AEFDBI	0.270435	0.38650	N	0.474774870753481	0.65622	4.845644	0.3901960171216	0.60959	4.289647	0.999999992779279	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	4.35	4.35	0.51454	0.491000	0.22128	11.353000	0.92575	0.676000	0.76740	0.159000	0.23783	1.000000	0.68203	0.719000	0.34739	0.0:0.0:1.0:0.0	14.774	0.69325	952	0.10565	.;SCAN domain|SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN domain|SCAN domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1557.33	33	chr19	58571146	.	G	C	1557.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.676;DP=731;ExcessHet=0;FS=0.86;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.93;ReadPosRankSum=-0.361;SOR=0.844	GT:AD:DP:GQ:PL	0/1:42,50:92:99:1571,0,1289	18	0	1	0
chr20	3803192	3803192	G	C	exonic	CDC25B	.	nonsynonymous SNV	CDC25B:NM_001287524:exon9:c.G766C:p.G256R,CDC25B:NM_001287518:exon12:c.G1069C:p.G357R,CDC25B:NM_001287522:exon12:c.G883C:p.G295R,CDC25B:NM_021872:exon12:c.G1219C:p.G407R,CDC25B:NM_001287516:exon13:c.G1150C:p.G384R,CDC25B:NM_001287517:exon13:c.G1108C:p.G370R,CDC25B:NM_001287519:exon13:c.G1006C:p.G336R,CDC25B:NM_001287520:exon13:c.G1006C:p.G336R,CDC25B:NM_004358:exon13:c.G1300C:p.G434R,CDC25B:NM_021873:exon13:c.G1342C:p.G448R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.774	0.123202022054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0011	0.0007	0.0006	0.0008	0.0006	0.0006	0.0007	0.0007	0.0006	0	0.0002	7.607e-05	0	0.0002	0.0008	0.0004	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.085	0.87354	M	1.81	0.25182	T	-7.58	0.95276	D	0.931	0.98268	-0.6717	0.61752	T	0.200	0.55640	T	10	0.98157537	0.98189	D	0.123202	0.80433	D	0.774	0.92419	0.92	0.98568	0.736929849786	0.73457	0.9132364924811667	0.91297	2.14713465814	0.95289	0.696103453636	0.66582	T	0.201973	0.83660	T	0.280949	0.81396	D	0.165788	0.81157	D	0.999002754688263	0.95858	D	0.989968	0.96869	D	0.92810935	0.94047	0.8602535	0.92196	0.92810935	0.94048	0.8602535	0.92197	-11.248	0.81537	D	.	.	0.994	0.95995	P	.;.;.;.;.	.;.;.;.;.	5.603180	0.92472	32	0.99900572155913103	0.97275	0.97177	0.73143	D	AEFGBCI	0.864053	0.78274	D	0.851518238386656	0.89196	9.872593	0.791774268680612	0.89217	9.884684	0.999999999996727	0.74766	0.706548	0.73137	0	0.696144	0.67643	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.24	5.24	0.72863	7.420000	0.79394	11.730000	0.94979	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.879000	0.42020	0.0:0.0:1.0:0.0	16.698	0.85199	809	0.43032	Rhodanese-like domain|Rhodanese-like domain|Rhodanese-like domain;Rhodanese-like domain|Rhodanese-like domain|Rhodanese-like domain;Rhodanese-like domain|Rhodanese-like domain|Rhodanese-like domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4118	3174.68	176	chr20	3803192	.	G	C	3174.68	.	AC=14;AF=0.412;AN=34;BaseQRankSum=-1.235;DP=2216;ExcessHet=17.0548;FS=208.448;InbreedingCoeff=-0.6531;MLEAC=15;MLEAF=0.441;MQ=60;MQRankSum=0;QD=2.1;ReadPosRankSum=2.04;SOR=13.387	GT:AD:DP:GQ:PL	0/1:80,36:122:30:30,0,1311	3	0	14	2
chr20	23035511	23035511	G	T	exonic	SSTR4	.	nonsynonymous SNV	SSTR4:NM_001052:exon1:c.G28T:p.G10W	.	417	1072	31	2	0	35	0.0160624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	.	0.0010	0.00579073	0.0101	0.0013	0.0005	0.0003	0.0129	0.0045	0.0118	0.0364	0.0038486	595	154602	rs200128778	0.0027	0.0027	0.0020	0.0033	0.0229	0.0026	0.0026	0.0220	0.0217	0.0002	0.0006	0.0002	0.0001	0.0037	0.0116	0.0013	0.0028	0.0229	0.0018	0.0018	0.0018	0.0018	0.0181	0.0016	0.0016	0.0150	0.0139	0.0002	0	0.0003	0.0003	0	0.0037	0.0171	0.0018	0.0019	0.0181	0.009	0.57480	D	0.032	0.53426	D	0.888	0.48822	P	0.186	0.36104	B	0.014314	0.01387	U	3.839660	1	0.08975	N	0.695	0.17993	N	-0.31	0.68030	T	0.7	0.02163	N	0.396	0.43706	-0.9558	0.39952	T	0.109	0.39439	T	10	0.004093647	0.00080	T	.	.	.	0.111	0.31313	.	.	0.520963378925	0.51741	0.32484460145015054	0.32397	0.51393972005	0.49362	0.719942033291	0.70038	T	0.047282	0.27676	T	-0.486337	0.00681	T	-0.453781	0.27279	T	0.010656141811405	0.00149	T	0.416558	0.10945	T	0.04749387	0.08127	0.057956647	0.10629	0.04749387	0.08127	0.057956647	0.10628	-4.25	0.27470	T	.	.	0.145	0.31882	B	.	.	1.310436	0.17132	12.98	0.7811163771348596	0.12160	0.02511	0.07006	N	AEFDBI	0.104038	0.20828	N	-0.972582954969699	0.09193	0.4340507	-1.09379127734444	0.07822	0.3820119	0.989063552908199	0.31712	0.59774	0.34471	0	0.59043	0.45803	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	3.39	0.012	0.13411	-0.117000	0.10681	0.360000	0.17566	-0.261000	0.06906	0.000000	0.06391	0.001000	0.17328	0.001000	0.02609	0.1881:0.131:0.3713:0.3096	1.229	0.01821	862	0.33134	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.011270	0.005319	0.002740	0.020588	0.050000	0.000000	0.022013	0.015385	0.02632	374.33	34	chr20	23035511	.	G	T	374.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.34;DP=633;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.37;ReadPosRankSum=1.51;SOR=0.655	GT:AD:DP:GQ:PL	0/1:16,12:28:99:388,0,397	18	0	1	0
chr20	25078783	25078783	C	G	exonic	VSX1	.	nonsynonymous SNV	VSX1:NM_199425:exon3:c.G673C:p.V225L	Keratoconus 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.0401855078385	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.423	0.09746	T	0.0	0.92824	D	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	-2.9	0.91643	D	0.18	0.05035	N	0.033	0.00882	-0.5459	0.66941	T	0.522	0.82158	D	8	0.04878807	0.04377	T	0.040186	0.59235	D	0.155	0.40530	0.19	0.10039	0.577006569591	0.57369	.	.	.	.	.	.	.	.	.	.	-0.220464	0.17930	T	-0.554458	0.16900	T	0.025669625332625	0.01362	T	0.258474	0.04102	T	.	.	.	.	.	.	.	.	-2.388	0.05060	T	.	.	0.126	0.26576	B	.	.	-0.903036	0.00921	0.035	0.7538843546215398	0.11056	0.01108	0.04057	N	AEFDBI	0.037954	0.05297	N	-1.48896318028788	0.01927	0.08458847	-1.626463129932	0.01502	0.06800164	0.999998543501183	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.596491	0.31596	0	0.530356	0.10902	0	.	.	3.46	-5.24	0.02576	-1.383000	0.02650	-3.484000	0.02751	-0.923000	0.02187	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1267:0.1869:0.3983:0.2881	1.997	0.03249	808	0.43318	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	625.33	77	chr20	25078783	.	C	G	625.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.28;DP=1308;ExcessHet=0;FS=0.814;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=5.9;ReadPosRankSum=1.36;SOR=0.846	GT:AD:DP:GQ:PL	0/1:75,31:106:99:639,0,1903	18	0	1	0
chr20	33217630	33217630	G	C	exonic	BPIFA3	.	nonsynonymous SNV	BPIFA3:NM_001042439:exon1:c.G94C:p.A32P,BPIFA3:NM_178466:exon1:c.G94C:p.A32P	.	426	1075	21	0	0	21	0.00967296	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	.	0.0002	0.00319489	0.0014	0	0.0010	0	0	0.0010	0.0011	0.0057	0.0013195	204	154602	rs181900900	0.0008	0.0008	0.0007	0.0010	0.0056	0.0008	0.0008	0.0052	0.0050	0.0003	0.0007	0.0083	2.519e-05	0	0.0047	0.0003	0.0014	0.0056	0.0009	0.0009	0.0007	0.0010	0.0083	0.0007	0.0007	0.0063	0.0056	0.0001	0	0.0007	0.0061	0	0	0	0.0007	0.0019	0.0083	0.017	0.58626	D	0.014	0.62352	D	0.877	0.68779	P	0.451	0.69275	P	0.165763	0.17523	N	0.481193	0.998	0.22589	N	1.65	0.42232	L	1.75	0.37746	T	-1.1	0.32791	N	0.276	0.33140	-1.0687	0.09701	T	0.112	0.40029	T	10	0.0075567067	0.00172	T	.	.	.	0.123	0.34020	.	.	0.459192005304	0.45545	0.6299885124784714	0.62932	0.0782960899249	0.08811	0.363554656506	0.19902	T	0.030091	0.21412	T	-0.445801	0.01196	T	-0.41191	0.32006	T	0.0636152545167251	0.07724	T	0.648035	0.25918	T	0.25490013	0.48521	0.20711122	0.44955	0.25490013	0.48521	0.20711122	0.44954	-3.708	0.20640	T	.	.	0.147	0.45593	B	.;.	.;.	1.593372	0.20375	14.72	0.99503038794280496	0.68147	0.08710	0.14600	N	AEFDBI	0.086296	0.17498	N	-0.275635036701696	0.30092	1.674727	-0.416724984199146	0.24506	1.342324	1.94871559436246E-4	0.05898	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.36	2.28	0.27583	0.589000	0.23640	1.661000	0.27900	-0.103000	0.15852	0.000000	0.06391	0.004000	0.18990	0.011000	0.09372	0.2333:0.0:0.7667:0.0	6.506	0.21391	96	0.96030	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.000000	0.009511	0.000000	0.000000	0.000000	0.006098	0.000000	0.05263	3360.83	33	chr20	33217630	.	G	C	3360.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.677;DP=875;ExcessHet=0.119;FS=2.627;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.05;ReadPosRankSum=0.249;SOR=0.85	GT:AD:DP:GQ:PL	0/1:82,63:145:99:1612,0,2147	17	0	2	0
chr20	34852409	34852409	G	C	exonic	GGT7	.	nonsynonymous SNV	GGT7:NM_001351702:exon11:c.C1449G:p.D483E,GGT7:NM_178026:exon11:c.C1449G:p.D483E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.296	0.0112495980913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.422e-06	6.02e-05	1.362e-06	5.502e-06	2.988e-05	1e-06	7.3e-07	8.4e-07	5.7e-07	2.988e-05	0	0	0	0	0	3.599e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.32141	T	0.012	0.63918	D	0.994	0.66517	D	0.926	0.66095	D	0.000000	0.84330	D	0.000000	0.999841	0.49770	D	2.215	0.62545	M	1.98	0.21865	T	-1.73	0.41046	N	0.499	0.53181	-1.0404	0.17192	T	0.128	0.43585	T	10	0.5826987	0.65938	D	0.01125	0.28682	T	0.296	0.61616	0.689	0.82653	0.228066490088	0.22430	0.82941257752094	0.82899	0.68760950996	0.60391	0.738000631332	0.72679	T	0.103498	0.41220	T	0.0708259	0.60949	D	-0.13604	0.60460	T	0.885277701002196	0.53559	D	0.910309	0.68205	D	0.41792053	0.61953	0.41181666	0.65402	0.41792053	0.61953	0.41181666	0.65402	-4.579	0.31907	T	.	.	0.782	0.76474	P	.	.	5.638633	0.92727	33	0.99733629509333355	0.82975	0.97405	0.74540	D	AEFDBI	0.720442	0.67100	D	0.820974805350757	0.87399	9.204616	0.835720227276759	0.92153	11.26631	0.92021159446374	0.26625	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.567892	0.33627	0	.	.	6.17	6.17	0.99707	4.488000	0.60028	9.966000	0.82830	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0685:0.0:0.9315:0.0	13.996	0.63912	522	0.74218	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	4376.86	158	chr20	34852409	.	G	C	4376.86	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-3.129;DP=2851;ExcessHet=31.086;FS=291.473;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=60;MQRankSum=0;QD=1.76;ReadPosRankSum=0.306;SOR=13.781	GT:AD:DP:GQ:PL	0/1:82,58:149:99:381,0,1477	2	0	17	0
chr20	37007453	37007453	C	G	exonic	RBL1	.	nonsynonymous SNV	RBL1:NM_001323281:exon19:c.G1548C:p.K516N,RBL1:NM_001323282:exon20:c.G1548C:p.K516N,RBL1:NM_002895:exon20:c.G2829C:p.K943N,RBL1:NM_183404:exon20:c.G2829C:p.K943N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.645	0.0858146876721	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0024	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0003	2.269e-05	7.792e-05	7.702e-05	3.801e-05	0	0.0003	0.0002	7.038e-05	6.586e-06	6.573e-06	1.287e-05	0	.	0	0	.	.	0	0	0	0	0	9.495e-05	0	0	0	0	0.002	0.72154	D	0.005	0.72224	D	0.738	0.48822	P	0.765	0.56630	P	0.000005	0.62929	D	0.104648	0.973806	0.39053	D	3.28	0.90206	M	-3.12	0.92774	D	-3.34	0.66325	D	0.708	0.71143	0.840	0.94902	D	0.839	0.94628	D	10	0.8987119	0.89228	D	0.085815	0.74611	D	0.645	0.86536	0.835	0.94294	0.945463439951	0.94489	0.6022124185921854	0.60152	0.625094447251	0.56694	0.728086709976	0.71226	T	0.758	0.93414	D	0.118849	0.66256	D	-0.0670579	0.65836	T	0.990135967731476	0.80349	D	0.882912	0.61284	D	0.88073915	0.89727	0.67431754	0.80880	0.88073915	0.89729	0.67431754	0.80881	-10.734	0.78179	D	.	.	0.883	0.81684	P	.;.	.;.	3.686440	0.52496	23.2	0.9987577306951968	0.95244	0.83174	0.42314	D	AEFBI	0.222942	0.34736	N	0.416761997621375	0.62342	4.448737	0.369751200552894	0.59705	4.150779	0.977451831980098	0.29823	0.732398	0.92422	0	0.708844	0.79440	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.29	3.32	0.37134	0.426000	0.21081	0.386000	0.17834	0.446000	0.21189	0.998000	0.41325	0.994000	0.32194	0.992000	0.67800	0.0:0.7242:0.0:0.2758	9.678	0.39217	793	0.45818	Retinoblastoma-associated protein, B-box;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1053	198.74	34	chr20	37007453	.	C	G	198.74	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-4.541;DP=1201;ExcessHet=0.7564;FS=109.594;InbreedingCoeff=-0.1229;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=0.45;ReadPosRankSum=1.19;SOR=9.558	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:92,15:107:21:0|1:37007452_A_G:21,0,3252:37007452	15	0	4	0
chr20	38213153	38213156	GGGG	-	exonic	KIAA1755	.	frameshift deletion	KIAA1755:NM_001348708:exon12:c.2442_2445del:p.P815Gfs*38,KIAA1755:NM_001029864:exon14:c.3489_3492del:p.P1164Gfs*38	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.682e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs773746541	1.3e-05	1.3e-05	1.226e-05	1.376e-05	0.0002	8.32e-06	6.7e-06	0.0001	0.0001	0	0	0	0	0	0.0002	8.995e-07	0	0.0002	6.574e-06	6.567e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2427.29	41	chr20	38213152	.	TGGGG	T	2427.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.813;DP=820;ExcessHet=0;FS=1.394;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.82;ReadPosRankSum=-0.28;SOR=0.859	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,63:129:99:0|1:38213152_TGGGG_T:2441,0,2582:38213152	18	0	1	0
chr20	38213157	38213157	-	AA	exonic	KIAA1755	.	frameshift insertion	KIAA1755:NM_001348708:exon12:c.2440_2441insTT:p.P814Lfs*41,KIAA1755:NM_001029864:exon14:c.3487_3488insTT:p.P1163Lfs*41	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.675e-05	0	0	0	0	0	0	0.0001	3.84e-05	1	26028	rs747113270	1.3e-05	1.3e-05	1.225e-05	1.376e-05	0.0002	8.32e-06	6.7e-06	0.0001	0.0001	0	0	0	0	0	0.0002	8.994e-07	0	0.0002	6.57e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2427.29	41	chr20	38213157	.	G	GAA	2427.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.045;DP=821;ExcessHet=0;FS=1.394;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.82;ReadPosRankSum=-0.493;SOR=0.859	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,63:129:99:0|1:38213152_TGGGG_T:2441,0,2582:38213152	18	0	1	0
chr20	38354288	38354288	C	A	exonic	LBP	.	nonsynonymous SNV	LBP:NM_004139:exon4:c.C373A:p.L125I	.	423	1089	10	0	0	10	0.00457038	.	.	.	705476	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.104	.	0.0022	0.00658946	0.0065	0.0005	0.0408	0	0.0057	0.0036	0.0068	0.0007	0.0062095	960	154602	rs2232585	0.0038	0.0038	0.0041	0.0035	0.0403	0.0037	0.0037	0.0388	0.0381	0.0004	0.0403	0.0053	0	0.0072	0.0121	0.0025	0.0045	0.0006	0.0050	0.0050	0.0045	0.0054	0.0301	0.0047	0.0045	0.0279	0.0270	0.0006	0	0.0301	0.0063	0	0.0061	0.0068	0.0024	0.0066	0.0006	0.231	0.18246	T	0.176	0.29843	T	0.121	0.26708	B	0.139	0.33484	B	0.041478	0.23946	N	0.278627	1	0.08975	N	2.155	0.60227	M	3.28	0.06523	T	-0.28	0.11547	N	0.357	0.39861	-1.0342	0.19109	T	0.009	0.03140	T	10	0.0025353432	0.00038	T	.	.	.	0.104	0.29647	.	.	0.165133752707	0.16062	0.24094005708314123	0.24008	0.360181560162	0.37701	0.417621672153	0.27510	T	0.039495	0.25209	T	-0.499113	0.00578	T	-0.460442	0.26552	T	0.0115454771060379	0.00174	T	0.530647	0.17608	T	0.21520232	0.43947	0.18266867	0.41209	0.21520232	0.43947	0.18266867	0.41208	-6.334	0.48991	T	.	.	0.110	0.21125	B	.	.	0.656481	0.10250	6.985	0.95388182246364173	0.26823	0.04045	0.09488	N	AEFDBI	0.452601	0.50608	N	-0.640038501448112	0.17751	0.9160617	-0.719753782831051	0.16469	0.8713751	0.98745487603267	0.31269	0.616025	0.39624	0	0.547309	0.14657	0	0.574621	0.27300	0	0.530356	0.10902	0	.	.	4.77	2.83	0.32150	0.927000	0.28418	-1.371000	0.05598	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.307000	0.24666	0.0:0.8034:0.0:0.1966	7.407	0.26168	794	0.45591	Lipid-binding serum glycoprotein, N-terminal|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	0	0	1	0	0.009063	0.000000	0.006793	0.014620	0.050000	0.017241	0.009146	0.007576	0.02632	2099.33	33	chr20	38354288	.	C	A	2099.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.14;DP=805;ExcessHet=0;FS=8.414;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=0.003;SOR=1.195	GT:AD:DP:GQ:PL	0/1:107,84:191:99:2113,0,2760	18	0	1	0
chr20	44503956	44503956	C	T	exonic	SERINC3	.	nonsynonymous SNV	SERINC3:NM_006811:exon8:c.G914A:p.R305H,SERINC3:NM_198941:exon8:c.G914A:p.R305H	.	.	.	.	.	.	.	.	.	.	.	4056536	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.046	0.00438915012071	.	.	5.766e-05	0	0	0	0	1.498e-05	0	0.0004	4.53e-05	7	154602	rs774380356	2.42e-05	2.531e-05	2.062e-05	2.781e-05	0.0004	1.757e-05	1.555e-05	0.0003	0.0002	0	2.45e-05	0	0	0	0	2.709e-06	1.671e-05	0.0004	3.945e-05	3.941e-05	3.856e-05	4.039e-05	0.0008	1.716e-05	1.13e-05	0.0003	0.0002	0	0	0	0	0	0	0	2.94e-05	0	0.0008	0.602	0.05601	T	0.576	0.08624	T	0.001	0.07471	B	0.002	0.06944	B	0.096114	0.20092	N	0.508880	1	0.08975	N	-1.11	0.00959	N	1.4	0.33630	T	0.42	0.03352	N	0.151	0.15469	-1.0234	0.22606	T	0.029	0.12673	T	10	0.03250611	0.01404	T	0.004389	0.10718	T	0.046	0.12618	0.638	0.77470	0.043077524339	0.03247	0.3944236481932554	0.39357	0.096357886575	0.10875	0.235294193029	0.02383	T	0.002917	0.27199	T	-0.548391	0.00298	T	-0.676071	0.07225	T	0.0461434763774476	0.04810	T	0.669833	0.27843	T	0.01751174	0.00279	0.022350194	0.00261	0.01751174	0.00279	0.022350194	0.00261	-3.99	0.23654	T	.	.	0.056	0.00524	B	.;.;.	.;.;.	2.132639	0.27151	17.36	0.61051494442184695	0.06613	0.05158	0.10972	N	AEFDBI	0.067599	0.13297	N	-0.886963959521391	0.11152	0.5366298	-0.697304660737957	0.17027	0.9035604	0.992624792334589	0.32908	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.39	4.3	0.50540	1.962000	0.40066	1.839000	0.29174	-0.343000	0.05659	0.998000	0.41325	0.993000	0.31925	0.901000	0.43729	0.0:0.0779:0.1519:0.7702	6.792	0.22888	273	0.89298	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	550.33	34	chr20	44503956	.	C	T	550.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.09;DP=663;ExcessHet=0;FS=6.286;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=0;SOR=1.634	GT:AD:DP:GQ:PL	0/1:27,19:46:99:564,0,660	18	0	1	0
chr20	45834377	45834385	CGAGGACGA	-	exonic	SNX21	.	nonframeshift deletion	SNX21:NM_001042632:exon2:c.198_206del:p.D72_D74del,SNX21:NM_001042633:exon2:c.198_206del:p.D72_D74del,SNX21:NM_033421:exon2:c.198_206del:p.D72_D74del,SNX21:NM_152897:exon2:c.198_206del:p.D72_D74del	.	382	1139	1	0	0	1	0.000438789	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0057	0.000599042	0.0003	0.0005	0	0.0002	0.0003	0.0002	0	0.0009	0.0001153	3	26028	rs547874769	0.0003	0.0003	0.0003	0.0003	0.0007	0.0003	0.0003	0.0006	0.0005	0.0002	0.0002	3.854e-05	0.0003	0.0004	0.0007	0.0003	0.0002	0.0007	0.0003	0.0003	0.0002	0.0003	0.0006	0.0002	0.0002	0.0002	0.0002	0.0002	0	0.0002	0	0.0006	0.0002	0	0.0004	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1778.29	36	chr20	45834376	.	CCGAGGACGA	C	1778.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.055;DP=761;ExcessHet=0;FS=0.733;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.62;ReadPosRankSum=0.076;SOR=0.58	GT:AD:DP:GQ:PL	0/1:60,47:107:99:1792,0,2377	18	0	1	0
chr20	45857313	45857313	-	ATCT	exonic	ACOT8	.	startloss	ACOT8:NM_005469:exon1:c.2_3insAGAT:p.M1?	.	425	1040	53	4	0	61	0.0284914	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023	0.029353	0.0253	0.0006	0.0021	0.0353	0.0008	0.0044	0.0100	0.1046	0.0014215	37	26028	rs201025211	0.0089	0.0090	0.0066	0.0112	0.0854	0.0087	0.0087	0.0838	0.0831	0.0011	0.0011	0.0061	0.0228	0.0003	0.0110	0.0033	0.0133	0.0854	0.0058	0.0059	0.0046	0.0072	0.0886	0.0055	0.0054	0.0817	0.0790	0.0005	0	0.0014	0.0084	0.0286	0	0.0204	0.0032	0.0099	0.0886	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013158	0.000000	0.000000	0.014620	0.000000	0.000000	0.028125	0.049618	0.05263	2553.79	35	chr20	45857313	.	C	CATCT	2553.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.06;DP=766;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=15.86;ReadPosRankSum=1.66;SOR=0.678	GT:AD:DP:GQ:PL	0/1:45,39:84:99:1502,0,1767	17	0	2	0
chr20	51516834	51516834	C	G	exonic	NFATC2	.	nonsynonymous SNV	NFATC2:NM_001136021:exon3:c.G1222C:p.G408R,NFATC2:NM_001258292:exon3:c.G1222C:p.G408R,NFATC2:NM_001258294:exon3:c.G625C:p.G209R,NFATC2:NM_001258295:exon3:c.G625C:p.G209R,NFATC2:NM_001258296:exon3:c.G625C:p.G209R,NFATC2:NM_001258297:exon3:c.G625C:p.G209R,NFATC2:NM_012340:exon3:c.G1282C:p.G428R,NFATC2:NM_173091:exon3:c.G1282C:p.G428R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.887	0.291469148357	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.619e-05	0.0007	0.0001	7.042e-05	0.0001	8.278e-05	7.817e-05	9.981e-05	9.381e-05	6.002e-05	0	0	5.044e-05	0	0	0.0001	0.0001	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.9	0.83903	M	-0.72	0.72994	T	-7.31	0.94511	D	0.952	0.97095	0.381	0.88810	D	0.611	0.86246	D	10	0.92848086	0.92191	D	0.291469	0.90578	D	0.887	0.96725	0.754	0.88402	0.90210233382	0.90113	0.8239515636362394	0.82352	1.30562062205	0.83120	0.866135060787	0.92011	D	0.671936	0.90273	D	0.39566	0.89663	D	0.330562	0.89533	D	0.997253000736237	0.91125	D	0.999394	0.99801	D	0.9024346	0.91602	0.87273586	0.93055	0.9024346	0.91603	0.87273586	0.93056	-12.284	0.86643	D	.	.	1.0	0.99952	P	.;.;.;.;.;.	.;.;.;.;.;.	5.540515	0.91959	32	0.99941663280488358	0.99797	0.98728	0.86094	D	AEFDBHI	0.897828	0.84044	D	0.916431156634983	0.92541	11.483	0.851822094425726	0.93121	11.83822	0.999999999999247	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.635551	0.53088	0	.	.	5.25	5.25	0.73169	7.900000	0.86025	7.651000	0.63703	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0:1.0:0.0:0.0	18.871	0.92287	957	0.09725	.;Rel homology domain (RHD), DNA-binding domain|Rel homology domain (RHD), DNA-binding domain;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3667	1005.35	57	chr20	51516834	.	C	G	1005.35	.	AC=11;AF=0.367;AN=30;BaseQRankSum=-1.047;DP=1441;ExcessHet=8.9063;FS=279.737;InbreedingCoeff=-0.4889;MLEAC=12;MLEAF=0.4;MQ=60;MQRankSum=0;QD=1.24;ReadPosRankSum=0.596;SOR=11.305	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:53,24:77:37:.:.:37,0,970:.	4	0	11	4
chr20	56524998	56524998	C	T	exonic	FAM209A	.	nonsynonymous SNV	FAM209A:NM_001012971:exon1:c.C190T:p.L64F	.	431	1064	27	0	0	27	0.012529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.00221928690667	.	.	0.0001	0.0002	0.0003	0	0	0.0001	0	0.0001	3.84e-05	1	26028	rs2019515	1.028e-05	0.0004	6.814e-06	1.378e-05	0.0001	6.17e-06	4.89e-06	5.428e-05	4.065e-05	0	0	0	2.519e-05	0	0	2.701e-06	3.317e-05	0.0001	1.981e-05	0.0003	0	4.056e-05	0.0002	5.27e-06	2.46e-06	4.91e-06	1.84e-06	0	0	0	0	0	0	0	2.959e-05	0	0.0002	0.612	0.05436	T	0.773	0.04431	T	0.002	0.09854	B	0.004	0.10090	B	0.300512	0.03952	N	1.580940	1	0.08975	N	0.895	0.22405	L	3.04	0.08810	T	0.08	0.06026	N	0.062	0.03392	-0.9840	0.34069	T	0.011	0.03949	T	10	0.02841866	0.00974	T	0.002219	0.04206	T	0.005	0.00259	.	.	0.0297737177859	0.01360	0.03433896955149916	0.03381	0.844967140893	0.68244	.	.	.	0.003816	0.03222	T	-0.372816	0.03454	T	-0.773301	0.02661	T	0.0671559348702431	0.08246	T	0.462454	0.13421	T	0.038233127	0.05054	0.049408853	0.07543	0.038233127	0.05053	0.049408853	0.07542	-4.498	0.30863	T	.	.	0.104	0.19032	B	.	.	-0.469087	0.01968	0.170	0.96523846478246433	0.30126	0.00138	0.00846	N	AEFDGBI	0.019902	0.00734	N	-1.56715141177652	0.01437	0.06267459	-1.58472377924509	0.01749	0.07952678	0.0122422385556242	0.12299	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.51	-3.08	0.05022	-2.308000	0.01212	-2.687000	0.03467	-0.189000	0.09497	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3755:0.2307:0.1287:0.2652	0.472	0.00497	988	0.01987	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008560	0.040404	0.001359	0.002924	0.050000	0.000000	0.012195	0.007576	0.02941	407.14	34	chr20	56524998	.	C	T	407.14	.	AC=1;AF=0.029;AN=34;BaseQRankSum=3.87;DP=1707;ExcessHet=0;FS=38.265;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.029;MQ=58.62;MQRankSum=-17.24;QD=1.11;ReadPosRankSum=-3.185;SOR=3.428	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:332,35:367:99:0|1:56524998_C_T:420,0,13680:56524998	16	0	1	2
chr20	56525005	56525005	T	C	exonic	FAM209A	.	nonsynonymous SNV	FAM209A:NM_001012971:exon1:c.T197C:p.V66A	.	431	1066	25	0	0	25	0.0115902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.00413359579284	.	.	0.0001	0.0002	0.0002	0	0	0.0001	0	0.0001	3.84e-05	1	26028	rs707554	1.164e-05	0.0002	8.172e-06	1.514e-05	0.0001	7.09e-06	5.8e-06	5.414e-05	4.055e-05	0	0	0	5.038e-05	1.874e-05	0	2.699e-06	3.314e-05	0.0001	2.637e-05	0.0003	2.578e-05	2.699e-05	0.0002	8.16e-06	5.15e-06	7.99e-06	2.99e-06	4.82e-05	0	0	0	0	0	0	1.476e-05	0	0.0002	0.222	0.18823	T	0.16	0.31427	T	0.0	0.02946	B	0.003	0.08700	B	0.971007	0.07778	N	1.017990	1	0.08975	N	1.295	0.32453	L	2.87	0.10386	T	-2.37	0.52289	N	0.136	0.13341	-0.9305	0.44066	T	0.022	0.09330	T	10	0.04262361	0.03030	T	0.004134	0.09900	T	0.095	0.27398	.	.	0.0138822411134	0.00435	0.11297937074249534	0.11225	0.256975690804	0.28266	.	.	.	0.01954	0.15549	T	-0.301829	0.08488	T	-0.671333	0.07523	T	0.0392241445291004	0.03550	T	0.368563	0.08641	T	0.049625613	0.08839	0.06962658	0.14694	0.049625613	0.08839	0.06962658	0.14694	-3.495	0.16361	T	.	.	0.069	0.03197	B	.	.	0.623466	0.09921	6.678	0.47635595541083875	0.03910	0.04211	0.09723	N	AEFDGBI	0.048429	0.08264	N	-1.39070259787422	0.02724	0.1207108	-1.34673273108721	0.03844	0.1801648	0.00889146502148676	0.11760	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.51	3.17	0.35510	0.454000	0.21539	1.500000	0.26949	-0.840000	0.02799	0.000000	0.06391	0.008000	0.19753	0.000000	0.00833	0.0:0.1709:0.0:0.8291	9.126	0.35973	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006042	0.020202	0.001359	0.000000	0.050000	0.000000	0.012195	0.007576	0.02632	229.33	34	chr20	56525005	.	T	C	229.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.03;DP=1073;ExcessHet=0;FS=36.439;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.35;MQRankSum=-17.15;QD=0.65;ReadPosRankSum=-3.351;SOR=3.616	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:322,29:351:99:0|1:56524998_C_T:243,0,13315:56524998	18	0	1	0
chr20	57519222	57519222	C	G	exonic	CTCFL	.	nonsynonymous SNV	CTCFL:NM_001269054:exon2:c.G124C:p.V42L,CTCFL:NM_001269055:exon2:c.G124C:p.V42L,CTCFL:NM_001269041:exon3:c.G910C:p.V304L,CTCFL:NM_001269044:exon3:c.G910C:p.V304L,CTCFL:NM_001269048:exon3:c.G910C:p.V304L,CTCFL:NM_001269049:exon3:c.G295C:p.V99L,CTCFL:NM_001269050:exon3:c.G295C:p.V99L,CTCFL:NM_001269052:exon3:c.G910C:p.V304L,CTCFL:NM_001269040:exon4:c.G910C:p.V304L,CTCFL:NM_001269042:exon4:c.G910C:p.V304L,CTCFL:NM_001269043:exon4:c.G910C:p.V304L,CTCFL:NM_001269045:exon4:c.G910C:p.V304L,CTCFL:NM_001269046:exon4:c.G910C:p.V304L,CTCFL:NM_001269047:exon4:c.G910C:p.V304L,CTCFL:NM_001269051:exon4:c.G910C:p.V304L,CTCFL:NM_080618:exon5:c.G910C:p.V304L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.00455010480724	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.20683	T	0.226	0.27503	T	0.103	0.25884	B	0.083	0.29179	B	0.622135	0.10767	N	0.774326	0.999893	0.20292	N	-0.17	0.04298	N	3.32	0.06214	T	-1.59	0.39314	N	0.185	0.21580	-0.9613	0.38936	T	0.007	0.02321	T	10	0.09690827	0.17416	T	0.00455	0.11220	T	0.049	0.13647	0.549	0.66436	0.246926113748	0.24311	0.24507355701661335	0.24421	0.727886391485	0.62587	0.306280910969	0.11345	T	0.091504	0.38810	T	-0.385754	0.02864	T	-0.791885	0.02113	T	0.652024686336517	0.38549	D	0.847115	0.52772	T	0.07529126	0.16953	0.11019696	0.26567	0.07529126	0.16953	0.11019696	0.26567	-5.663	0.51244	T	.	.	0.380	0.69386	A	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	-1.533304	0.00275	0.004	0.82071389232656267	0.14004	0.04173	0.09670	N	AEFBI	0.169526	0.29636	N	-1.57966644165454	0.01369	0.05967142	-1.64962578061119	0.01378	0.06224278	0.999547216487471	0.40300	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.25	-7.4	0.01252	-1.126000	0.03365	-11.030000	0.00642	-0.242000	0.07441	0.000000	0.06391	0.000000	0.08366	0.034000	0.13613	0.0:0.2029:0.0952:0.7018	12.677	0.56262	912	0.21483	.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.;.;.;.;.;.;.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	943.33	38	chr20	57519222	.	C	G	943.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.65;DP=698;ExcessHet=0;FS=5.701;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.74;ReadPosRankSum=-1.572;SOR=1.552	GT:AD:DP:GQ:PL	0/1:31,33:64:99:957,0,767	18	0	1	0
chr20	62311441	62311441	G	A	exonic	LAMA5	.	nonsynonymous SNV	LAMA5:NM_005560:exon72:c.C9902T:p.P3301L	.	413	1108	1	0	0	1	0.00045106	.	.	.	2824560	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.004	0.00333744394006	.	0.000199681	6.014e-05	0	0.0003	0	0	7.248e-05	0	0	2.59e-05	4	154602	rs576584555	4.216e-05	4.515e-05	3.981e-05	4.455e-05	0.0002	3.345e-05	3.032e-05	3.653e-05	3.308e-05	3.019e-05	6.984e-05	0	2.571e-05	0	0.0002	4.705e-05	3.346e-05	1.183e-05	5.252e-05	5.249e-05	6.424e-05	4.028e-05	0.0004	2.555e-05	1.829e-05	0.0002	0.0001	2.406e-05	0	0.0004	0	0	0	0	0	0.0005	0	0.701	0.04162	T	0.791	0.04181	T	0.001	0.07471	B	0.001	0.04355	B	0.458904	0.04858	N	1.331060	1	0.08975	N	0.205	0.09354	N	2.13	0.19588	T	-0.26	0.11185	N	0.078	0.05287	-1.0076	0.27665	T	0.025	0.10733	T	10	0.017113239	0.00363	T	0.003337	0.07451	T	0.004	0.00165	.	.	0.102598925029	0.09809	0.2112922730477748	0.21045	.	.	0.433155477047	0.29640	T	0.033528	0.22951	T	-0.545458	0.00311	T	-0.78462	0.02317	T	0.0169309911884123	0.00444	T	0.370463	0.08742	T	0.0209828	0.00678	0.02714867	0.00847	0.0209828	0.00678	0.02714867	0.00847	-3.954	0.23113	T	.	.	0.071	0.03849	B	.	.	-0.664132	0.01406	0.082	0.55234022002421213	0.05300	0.03891	0.09264	N	AEFDBCI	0.044396	0.07137	N	-2.25858779452492	0.00056	0.002422229	-2.37109122203489	0.00046	0.002014897	0.999999983151231	0.74766	0.67177	0.52595	0	0.588066	0.40923	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	3.28	-6.57	0.01674	-1.772000	0.01885	-3.678000	0.02611	-1.715000	0.00737	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2975:0.1955:0.31:0.197	0.677	0.00813	779	0.47767	.	.	.	.	.	.	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	0.003030	0.005102	0.002725	0.002959	0.000000	0.008621	0.000000	0.003817	0.02632	936.33	37	chr20	62311441	.	G	A	936.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.33;DP=931;ExcessHet=0;FS=1.798;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.28;ReadPosRankSum=-1.826;SOR=0.61	GT:AD:DP:GQ:PL	0/1:48,35:83:99:950,0,1263	18	0	1	0
chr20	62813277	62813277	A	0	exonic	OGFR	.	.	.	.	523	886	20	13	80	126	0.0253025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2851.57	17	chr20	62813277	.	A	*	2851.57	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.066;DP=442;ExcessHet=0.0107;FS=0;InbreedingCoeff=0.4745;MLEAC=1;MLEAF=0.026;MQ=54.91;MQRankSum=1.3;QD=25.69;ReadPosRankSum=1.17;SOR=0.851	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:2,11:13:33:.:.:445,0,33:.	18	0	1	0
chr20	62813313	62813313	G	0	exonic	OGFR	.	.	.	.	901	501	16	13	91	133	0.0402299	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	2365.88	9	chr20	62813313	.	G	*	2365.88	.	AC=1;AF=0.063;AN=16;BaseQRankSum=1.28;DP=317;ExcessHet=0.3701;FS=7.461;InbreedingCoeff=0.1087;MLEAC=2;MLEAF=0.125;MQ=52.93;MQRankSum=0;QD=27.83;ReadPosRankSum=0.801;SOR=0.743	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:2,11:13:33:.:.:445,0,33:.	7	0	1	11
chr20	62882075	62882086	GCTGCTGTTGTG	-	exonic	DIDO1	.	nonframeshift deletion	DIDO1:NM_001193369:exon16:c.3870_3881del:p.T1291_A1294del,DIDO1:NM_033081:exon16:c.3870_3881del:p.T1291_A1294del	.	415	1067	37	3	0	43	0.019752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0028	0.00259585	0.0049	0.0009	0.0029	0	0.0017	0.0045	0.0045	0.0139	0.000461	12	26028	rs374696200	0.0040	0.0040	0.0035	0.0044	0.0154	0.0039	0.0038	0.0147	0.0144	0.0004	0.0026	0.0010	0	0.0016	0.0083	0.0036	0.0033	0.0154	0.0030	0.0030	0.0025	0.0036	0.0166	0.0028	0.0027	0.0137	0.0126	0.0006	0.0011	0.0060	0.0023	0	0.0015	0.0374	0.0032	0.0033	0.0166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2550.29	38	chr20	62882074	.	CGCTGCTGTTGTG	C	2550.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.812;DP=948;ExcessHet=0;FS=9.543;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.08;ReadPosRankSum=-0.091;SOR=0.863	GT:AD:DP:GQ:PL	0/1:61,66:127:99:2564,0,2340	18	0	1	0
chr20	63561117	63561117	G	T	exonic	HELZ2	.	nonsynonymous SNV	HELZ2:NM_033405:exon9:c.C5404A:p.L1802I,HELZ2:NM_001037335:exon15:c.C7111A:p.L2371I	.	427	1092	2	1	0	4	0.00182815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.560	0.0585356888723	.	.	8.374e-06	0	0	0	0	0	0	6.204e-05	6.5e-06	1	154602	rs764576989	1.301e-05	1.3e-05	5.45e-06	2.064e-05	0.0002	8.32e-06	6.71e-06	0.0001	0.0001	0	0	0	0	0	0	0	1.656e-05	0.0002	6.565e-06	6.561e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.035	0.47745	D	0.018	0.59732	D	0.983	0.60381	D	0.913	0.64886	D	0.161766	0.17641	N	0.549745	0.987627	0.40622	D	2.425	0.70256	M	-2.55	0.89561	D	-1.54	0.37375	N	0.52	0.57860	0.642	0.92442	D	0.768	0.92126	D	10	0.51832557	0.62496	D	0.058536	0.67351	D	0.560	0.81946	0.424	0.46857	0.703969262359	0.70140	0.23074138044099424	0.22989	0.748255062631	0.63626	0.546921372414	0.45423	T	0.233758	0.60064	T	-0.0215437	0.48634	T	-0.0871946	0.64373	T	0.819772720336914	0.47756	D	0.837116	0.50934	T	0.30970147	0.53760	0.2425035	0.49672	0.30970147	0.53760	0.2425035	0.49671	-7.865	0.60146	D	.	.	0.210	0.45124	B	.;.	.;.	4.415057	0.68328	25.2	0.99496608126423258	0.67801	0.95500	0.64968	D	AEFDGBI	0.599549	0.59253	D	0.53973155171182	0.69459	5.359908	0.473129793666525	0.66213	4.923157	0.978742033690472	0.29954	0.706548	0.73137	0	0.643519	0.57511	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.27	4.27	0.50009	5.533000	0.66873	10.330000	0.83288	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.794000	0.37478	0.0:0.1677:0.8323:0.0	12.579	0.55730	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1598.33	66	chr20	63561117	.	G	T	1598.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.312;DP=1032;ExcessHet=0;FS=0.665;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.49;ReadPosRankSum=-0.418;SOR=0.604	GT:AD:DP:GQ:PL	0/1:67,61:128:99:1612,0,1702	18	0	1	0
chr20	63862838	63862838	G	C	exonic	ABHD16B	.	nonsynonymous SNV	ABHD16B:NM_080622:exon1:c.G1298C:p.R433P	.	421	1098	3	0	0	3	0.00136426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	.	.	0.00319489	0.0075	0	0.0039	0	0	0.0002	0.0076	0.0142	0.0012031	186	154602	rs369855711	0.0009	0.0010	0.0005	0.0014	0.0156	0.0009	0.0009	0.0148	0.0146	0	0	0	2.806e-05	0	0.0009	2.785e-06	0.0011	0.0156	0.0004	0.0004	0.0003	0.0006	0.0139	0.0004	0.0003	0.0112	0.0102	0	0	0	0	0	0	0	1.471e-05	0	0.0139	0.091	0.31834	T	0.134	0.34241	T	0.785	0.44430	P	0.359	0.43123	B	0.020207	0.27088	N	0.335796	1	0.08975	N	2.44	0.70756	M	0.92	0.44461	T	-1.65	0.39503	N	0.451	0.48872	-1.0069	0.27881	T	0.089	0.34243	T	10	0.0059812367	0.00134	T	.	.	.	0.084	0.24469	0.367	0.37524	0.429666569261	0.42586	0.7136727065230333	0.71310	1.27094808875	0.82264	0.471149116755	0.34839	T	0.005659	0.05109	T	-0.428049	0.01523	T	-0.375315	0.36270	T	0.0545993516631287	0.06291	T	0.590841	0.21745	T	0.38560924	0.59718	0.31247407	0.57249	0.38560924	0.59719	0.31247407	0.57248	-3.561	0.17296	T	.	.	0.143	0.31355	B	.	.	2.289391	0.29282	18.07	0.93043341493089127	0.22648	0.41649	0.26704	N	AEFDGBCI	0.253995	0.37340	N	-0.109571450985956	0.36974	2.144665	-0.183010448051174	0.32160	1.826952	0.99999819068356	0.74766	0.700653	0.57754	0	0.577304	0.33150	0	0.717052	0.78885	0	0.491896	0.07777	0	.	.	5.41	3.36	0.37579	2.715000	0.46879	3.309000	0.37448	0.676000	0.76740	0.058000	0.21700	0.998000	0.33993	0.065000	0.16320	0.0855:0.1556:0.7589:0.0	8.647	0.33175	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003236	0.000000	0.000000	0.003125	0.000000	0.000000	0.000000	0.015873	0.05263	918.83	40	chr20	63862838	.	G	C	918.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.268;DP=749;ExcessHet=0.119;FS=6.599;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.44;ReadPosRankSum=0.92;SOR=1.516	GT:AD:DP:GQ:PL	0/1:26,18:44:99:420,0,743	17	0	2	0
chr21	14582280	14582280	G	T	exonic	SAMSN1	.	nonsynonymous SNV	SAMSN1:NM_001256370:exon2:c.C117A:p.H39Q	.	426	1092	3	1	0	5	0.00228415	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	.	.	0.00678914	0.0062	0	0.0034	0.0061	0.0030	0.0071	0	0.0072	0.0015524	240	154602	rs139465416	0.0049	0.0047	0.0047	0.0051	0.0177	0.0048	0.0048	0.0165	0.0161	0.0007	0.0014	0.0062	0.0177	0.0030	0.0012	0.0047	0.0046	0.0071	0.0034	0.0034	0.0032	0.0036	0.0150	0.0032	0.0031	0.0124	0.0114	0.0007	0.0099	0.0015	0.0084	0.0150	0.0020	0	0.0043	0.0024	0.0068	0.211	0.19569	T	0.197	0.27855	T	.	.	.	.	.	.	0.850141	0.07052	N	1.078960	0.999636	0.20820	N	.	.	.	1.03	0.40469	T	0.07	0.06138	N	0.033	0.00882	-0.9089	0.46989	T	0.131	0.44148	T	9	0.0062390864	0.00141	T	.	.	.	0.069	0.20116	0.245	0.17984	0.374076547971	0.37021	0.04355858072744278	0.04300	0.130872178573	0.14763	0.241241544485	0.02903	T	.	.	.	-0.701228	0.00036	T	-0.766416	0.02887	T	0.00334240836151075	0.00035	T	0.288271	0.05202	T	.	.	.	.	.	.	.	.	-3.301	0.13750	T	.	.	0.097	0.16010	B	.;.	.;.	0.478040	0.08477	5.235	0.72350919477098707	0.09943	0.60428	0.31193	D	AEFGBHCIJ	0.100900	0.20278	N	-0.43358084922464	0.24299	1.311116	-0.43314033324808	0.24031	1.313715	0.999999999999506	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.87	2.9	0.32809	-0.211000	0.09336	0.100000	0.14636	-0.115000	0.14600	0.732000	0.28943	0.000000	0.08366	0.786000	0.37147	0.1904:0.1046:0.705:0.0	10.456	0.43735	994	0.00715	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1526.33	133	chr21	14582280	.	G	T	1526.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.338;DP=2029;ExcessHet=0;FS=3.511;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14;ReadPosRankSum=-0.848;SOR=0.829	GT:AD:DP:GQ:PL	0/1:51,58:109:99:1540,0,1349	18	0	1	0
chr21	29062139	29062139	C	T	exonic	CCT8	.	nonsynonymous SNV	CCT8:NM_001282909:exon10:c.G982A:p.V328I,CCT8:NM_001282908:exon11:c.G1048A:p.V350I,CCT8:NM_006585:exon11:c.G1201A:p.V401I,CCT8:NM_001282907:exon12:c.G1144A:p.V382I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.224	0.012684035955	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.44694	D	0.153	0.32144	T	0.009	0.15093	B	0.009	0.14300	B	0.000281	0.46590	N	0.185154	0.996649	0.43328	D	1.39	0.34934	L	-1.2	0.78537	T	-0.86	0.23372	N	0.246	0.28616	-0.5459	0.66941	T	0.328	0.69631	T	10	0.2778936	0.45357	T	0.012684	0.31464	T	0.224	0.52174	0.462	0.53079	0.433221091474	0.42940	0.4136180740751105	0.41277	0.145016126387	0.16386	0.665733397007	0.62229	T	0.268058	0.64014	T	-0.0454185	0.45142	T	-0.303017	0.44406	T	0.853407323360443	0.50462	D	0.944306	0.78939	D	0.22779615	0.45487	0.16450755	0.38106	0.22779615	0.45487	0.16450755	0.38105	-8.229	0.65857	D	.	.	0.123	0.25689	B	.;.;.	.;.;.	2.989453	0.39905	21.1	0.99434143661799856	0.64423	0.94060	0.59991	D	AEFDGBCI	0.255453	0.37457	N	-0.046680612862538	0.39752	2.349264	0.0980967445047941	0.44453	2.726785	0.99999988511773	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	5.15	4.26	0.49832	3.676000	0.54347	4.009000	0.41144	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.8476:0.0:0.1524	10.071	0.41505	968	0.07033	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1355.33	33	chr21	29062139	.	C	T	1355.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.144;DP=703;ExcessHet=0;FS=0.813;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.89;ReadPosRankSum=1.03;SOR=0.828	GT:AD:DP:GQ:PL	0/1:41,50:91:99:1369,0,1099	18	0	1	0
chr21	38392418	38392418	A	G	exonic	ERG	.	nonsynonymous SNV	ERG:NM_001136155:exon6:c.T496C:p.S166P,ERG:NM_001243429:exon6:c.T424C:p.S142P,ERG:NM_001331025:exon6:c.T700C:p.S234P,ERG:NM_182918:exon7:c.T772C:p.S258P,ERG:NM_004449:exon8:c.T721C:p.S241P,ERG:NM_001136154:exon9:c.T793C:p.S265P,ERG:NM_001243428:exon9:c.T793C:p.S265P,ERG:NM_001243432:exon9:c.T793C:p.S265P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.010159857368	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.32453	T	0.179	0.44302	T	0.002	0.19556	B	0.005	0.18783	B	0.004793	0.33389	N	0.283163	1	0.81001	D	1.63	0.41750	L	2.45	0.15724	T	-1.55	0.43524	N	0.691	0.74371	-1.0376	0.18048	T	0.099	0.36856	T	10	0.5482459	0.64106	D	0.01016	0.26368	T	0.128	0.35103	0.236	0.16608	0.869303640231	0.86803	0.7031906357626659	0.70260	1.19930797931	0.80486	0.608542442322	0.54109	T	0.533343	0.83890	D	0.160644	0.70261	D	-0.00702281	0.69879	D	0.601437389850616	0.36458	D	0.722228	0.34027	T	0.37169892	0.58710	0.3220593	0.58149	0.37169892	0.58711	0.3220593	0.58148	-3.147	0.11843	T	.	.	0.079	0.12132	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.083567	0.41495	21.4	0.99698537402530008	0.80453	0.93118	0.57374	D	AEFBCI	0.901681	0.84866	D	0.190353975032746	0.50737	3.260834	0.339227270551105	0.57861	3.953639	0.99999999886364	0.74766	0.722319	0.85440	0	0.59043	0.45803	0	0.602189	0.34648	0	0.735409	0.98432	0	.	.	5.85	5.85	0.93663	4.649000	0.61129	4.666000	0.44258	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	15.899	0.79144	917	0.20147	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	649.33	33	chr21	38392418	.	A	G	649.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.879;DP=697;ExcessHet=0;FS=0.881;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.89;ReadPosRankSum=-0.988;SOR=0.579	GT:AD:DP:GQ:PL	0/1:42,31:73:99:663,0,920	18	0	1	0
chr21	41918930	41918930	C	G	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G58C:p.D20H,C2CD2:NM_015500:exon4:c.G523C:p.D175H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	0.0154551292841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.655e-05	0.0018	8.339e-05	4.965e-05	7.588e-05	5.548e-05	5.15e-05	6.221e-05	5.689e-05	6.157e-05	0	0	2.542e-05	0	0	7.588e-05	0.0001	2.345e-05	0	1.972e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.081	0.39575	T	0.008	0.69154	D	0.991	0.64070	D	0.635	0.51908	P	0.000159	0.49130	D	0.177285	0.997695	0.47157	D	.	.	.	1.75	0.26301	T	-3.35	0.67241	D	0.495	0.52829	-1.0406	0.17132	T	0.094	0.35578	T	10	0.36435574	0.52982	T	0.015455	0.36203	T	0.184	0.45763	0.5	0.59147	0.412715890961	0.40891	0.48026109495753466	0.47946	0.939492545994	0.72166	0.386622190475	0.23192	T	0.11001	0.42436	T	-0.0654905	0.42045	T	-0.331849	0.41263	T	0.957460343837738	0.65017	D	0.80112	0.44691	T	0.13993374	0.32304	0.19344127	0.42913	0.13993374	0.32304	0.19344127	0.42912	-4.866	0.35351	T	.	.	0.297	0.52720	B	.;.	.;.	3.167608	0.42947	21.6	0.98968893955553749	0.49481	0.97817	0.77351	D	AEFGBCI	0.178683	0.30595	N	0.120232727473123	0.47407	2.966873	0.0765168796991302	0.43369	2.640186	0.999806047820681	0.43304	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	4.65	0.57626	2.712000	0.46854	2.536000	0.33191	-0.193000	0.09282	0.998000	0.41325	0.990000	0.31317	0.261000	0.23543	0.0:0.9112:0.0:0.0888	10.542	0.44226	985	0.02828	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3889	2032.79	96	chr21	41918930	.	C	G	2032.79	.	AC=14;AF=0.389;AN=36;BaseQRankSum=-2.78;DP=1565;ExcessHet=17.0548;FS=105.468;InbreedingCoeff=-0.617;MLEAC=14;MLEAF=0.389;MQ=60;MQRankSum=0;QD=1.67;ReadPosRankSum=0.897;SOR=10.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:79,10:89:22:0|1:41918930_C_G:22,0,3115:41918930	4	0	14	1
chr21	41918931	41918931	C	G	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G57C:p.E19D,C2CD2:NM_015500:exon4:c.G522C:p.E174D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.00492569628037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.451e-05	0.0016	7.555e-05	5.341e-05	7.873e-05	5.358e-05	4.967e-05	6.511e-05	5.999e-05	6.098e-05	0	0	0	0	0	7.873e-05	6.752e-05	1.17e-05	0	1.971e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.236	0.18061	T	0.601	0.07919	T	0.026	0.19406	B	0.018	0.18489	B	0.000050	0.53742	N	0.125982	0.99197	0.25906	N	.	.	.	1.63	0.29342	T	-1.04	0.27259	N	0.215	0.24010	-1.0662	0.10269	T	0.041	0.17530	T	10	0.08271399	0.13680	T	0.004926	0.12380	T	0.072	0.21020	0.35	0.34760	0.220303561663	0.21668	0.1572690006054573	0.15647	0.316597008402	0.33914	0.371157944202	0.20998	T	0.066614	0.32991	T	-0.190454	0.22190	T	-0.51135	0.21176	T	0.0971272264662142	0.12037	T	0.621038	0.23867	T	0.06723062	0.14539	0.068933986	0.14461	0.06723062	0.14538	0.068933986	0.14461	-4.061	0.26403	T	.	.	0.138	0.30076	B	.;.	.;.	-0.008587	0.04225	1.036	0.97585889396706837	0.34764	0.55769	0.29947	D	AEFGBCI	0.075069	0.15065	N	-1.00383072654947	0.08524	0.3999859	-1.03972205038638	0.08921	0.4411397	0.987282828575251	0.31228	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	-3.89	0.03916	-2.263000	0.01256	-2.617000	0.03544	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.255000	0.23391	0.0:0.2473:0.135:0.6177	7.143	0.24745	985	0.02828	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3889	2022.74	96	chr21	41918931	.	C	G	2022.74	.	AC=14;AF=0.389;AN=36;BaseQRankSum=-2.847;DP=1558;ExcessHet=17.0548;FS=106.404;InbreedingCoeff=-0.6166;MLEAC=14;MLEAF=0.389;MQ=60;MQRankSum=0;QD=1.66;ReadPosRankSum=1.13;SOR=10.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:79,10:89:22:0|1:41918930_C_G:22,0,3115:41918930	4	0	14	1
chr21	41918933	41918933	C	G	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G55C:p.E19Q,C2CD2:NM_015500:exon4:c.G520C:p.E174Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.0219031869935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.478e-05	0.0011	4.439e-05	2.512e-05	4.037e-05	2.676e-05	2.415e-05	3.06e-05	2.725e-05	3.035e-05	0	0	0	0	0	4.037e-05	6.709e-05	1.166e-05	0	6.568e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.094	0.31383	T	0.077	0.42436	T	0.993	0.65571	D	0.796	0.58006	P	0.000050	0.53742	D	0.125982	0.558298	0.35134	D	.	.	.	1.45	0.34050	T	-1.93	0.45404	N	0.445	0.48319	-0.8942	0.48558	T	0.124	0.42799	T	10	0.385596	0.54516	T	0.021903	0.44729	T	0.123	0.34020	0.335	0.32329	0.475272412942	0.47157	0.2669297999209157	0.26605	0.875831749287	0.69562	0.368384510279	0.20599	T	0.169624	0.51706	T	-0.071456	0.41094	T	-0.340418	0.40296	T	0.892000317573547	0.54302	D	0.780422	0.42483	T	0.12762854	0.29860	0.090659045	0.21273	0.12762854	0.29860	0.090659045	0.21273	-4.173	0.26359	T	.	.	0.172	0.37802	B	.;.	.;.	3.657104	0.51934	23.2	0.99734899065078686	0.83047	0.98645	0.85080	D	AEFGBCI	0.411583	0.48200	N	0.342246259245579	0.58331	4.00473	0.324919729865026	0.57008	3.865243	0.999999844603992	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	5.53	0.82530	5.201000	0.64999	4.599000	0.43989	0.599000	0.40250	0.989000	0.36753	1.000000	0.68203	0.215000	0.22324	0.0:1.0:0.0:0.0	14.966	0.70847	985	0.02828	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3684	1945.18	98	chr21	41918933	.	C	G	1945.18	.	AC=14;AF=0.368;AN=38;BaseQRankSum=-3.313;DP=1548;ExcessHet=17.0548;FS=103.494;InbreedingCoeff=-0.5813;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=1.61;ReadPosRankSum=1.16;SOR=10.341	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:79,9:88:15:0|1:41918930_C_G:15,0,3117:41918930	5	0	14	0
chr21	42115932	42115932	C	T	exonic	UMODL1	.	nonsynonymous SNV	UMODL1:NM_001199527:exon13:c.C2590T:p.R864C,UMODL1:NM_173568:exon13:c.C2806T:p.R936C,UMODL1:NM_001004416:exon14:c.C2422T:p.R808C,UMODL1:NM_001199528:exon14:c.C2206T:p.R736C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.0222544389909	8.2e-05	.	4.97e-05	0	0	0.0001	0	5.996e-05	0	6.057e-05	3.88e-05	6	154602	rs375502641	2.805e-05	2.805e-05	2.859e-05	2.75e-05	0.0002	2.087e-05	1.878e-05	2.116e-05	1.862e-05	0	0	0	7.557e-05	0	0.0002	2.968e-05	4.968e-05	1.159e-05	3.945e-05	3.94e-05	2.571e-05	5.385e-05	0.0002	1.716e-05	1.13e-05	2.263e-05	9.08e-06	2.415e-05	0	0.0001	0.0003	0.0002	0	0	1.47e-05	0	0	0.02	0.50132	D	0.102	0.38450	T	0.007	0.77913	B	0.001	0.61978	B	0.222644	0.03465	N	1.645210	1	0.08975	N	1.39	0.34934	L	0.98	0.42122	T	-1.51	0.38924	N	0.177	0.19055	-0.8022	0.55015	T	0.099	0.36983	T	9	0.0793235	0.12748	T	0.022254	0.45130	T	0.036	0.09122	.	.	0.262662153117	0.25859	0.33564717926661697	0.33477	0.509076387246	0.49044	0.247185900807	0.03477	T	0.004001	0.03413	T	-0.510624	0.00498	T	-0.74555	0.03661	T	0.0477274509853364	0.05094	T	0.633437	0.24975	T	0.061616875	0.12779	0.042733353	0.05158	0.061616875	0.12779	0.042733353	0.05158	-6.728	0.55882	T	.	.	0.117	0.36093	B	.;.;.;.	.;.;.;.	0.397617	0.07687	4.363	0.95589107427256148	0.27307	0.01024	0.03847	N	AEFBI	0.108377	0.21563	N	-1.6288324922303	0.01127	0.04896621	-1.83603025562199	0.00650	0.0289284	0.999999997356161	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	4.39	-8.78	0.00712	-1.463000	0.02467	-6.166000	0.01477	-1.978000	0.00464	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3961:0.1:0.3722:0.1317	4.091	0.09443	981	0.03995	.;.;.;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	.	.	.	.	.	.	.	.	0.02632	1950.33	33	chr21	42115932	.	C	T	1950.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.902;DP=791;ExcessHet=0;FS=1.944;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=0.355;SOR=0.831	GT:AD:DP:GQ:PL	0/1:83,80:163:99:1964,0,1932	18	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	0.02632	1097.33	33	chr22	17689010	.	G	A	1097.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.385;DP=702;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=1.03;SOR=0.723	GT:AD:DP:GQ:PL	0/1:37,47:84:99:1111,0,778	18	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	0.02632	894.33	64	chr22	18922842	.	G	T	894.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.95;DP=1055;ExcessHet=0;FS=2.079;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.96;ReadPosRankSum=0.643;SOR=0.415	GT:AD:DP:GQ:PL	0/1:33,36:69:99:908,0,858	18	0	1	0
chr22	18925165	18925165	A	G	exonic	LOC102724788;PRODH	.	nonsynonymous SNV	PRODH:NM_001195226:exon4:c.T229C:p.W77R,LOC102724788:NM_001368249:exon4:c.T553C:p.W185R,LOC102724788:NM_001368250:exon4:c.T229C:p.W77R,PRODH:NM_016335:exon4:c.T553C:p.W185R	.	0	170	630	722	0	2074	0.859155	.	.	.	1159081	Proline_dehydrogenase_deficiency|not_provided	MONDO:MONDO:0009400,MedGen:C0268529,OMIM:239500,Orphanet:419|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.076	.	0.6739	0.78095	0.6417	0.8658	0.6056	0.9683	0.4835	0.5769	0.6024	0.6814	0.02359	614	26028	rs386819653	0.0003	0.0047	0.0004	0.0002	0.0023	0.0002	0.0001	0.0006	0.0003	0	0.0023	0	0	0	0	0.0004	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	.	0	0	0	0.503	0.07670	T	0.534	0.09965	T	0.0	0.02946	B	0.0	0.01387	B	0.094139	0.20188	N	0.520350	0.999439	0.21199	P	.	.	.	-0.92	0.75108	T	3.71	0.00075	N	0.033	0.01068	-0.9908	0.32398	T	0.000	0.00011	T	8	1.1503014e-06	0.00003	T	.	.	.	0.124	0.34239	0.323	0.30387	.	.	0.36059814543275515	0.35973	0.483945717353	0.47326	0.248760938644	0.03638	T	0.002583	0.06018	T	-0.601222	0.00143	T	-0.49257	0.23121	T	0.00184463573786778	0.00019	T	0.00685721	0.00048	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00015	B	.;.;.;.;.	.;.;.;.;.	0.485323	0.08545	5.311	0.22177376406136032	0.00880	0.05952	0.11910	N	AEFDBI	0.024100	0.01439	N	-0.980425259653166	0.09021	0.425321	-0.911628502467974	0.11819	0.6044718	0.999452624102034	0.39788	0.722319	0.85440	0	0.627178	0.54094	0	0.698795	0.65105	0	0.613276	0.41899	0	.	.	5.03	2.88	0.32617	3.825000	0.55430	1.457000	0.26651	-2.966000	0.00148	0.770000	0.29357	0.835000	0.27248	0.022000	0.11911	0.1618:0.0:0.6925:0.1458	6.438	0.21037	929	0.16858	.;.;.;.;.	.	.	.	.	rs4819756	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	1	0	0.686304	0.752525	0.689373	0.602339	0.700000	0.612069	0.704268	0.655303	0.7632	70360.4	209	chr22	18925165	.	A	G	70360.4	.	AC=29;AF=0.763;AN=38;BaseQRankSum=-1.068;DP=3050;ExcessHet=0.1204;FS=0;InbreedingCoeff=0.272;MLEAC=29;MLEAF=0.763;MQ=60;MQRankSum=0;QD=24.25;ReadPosRankSum=0.274;SOR=0.651	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,148:148:99:.:.:4546,444,0:.	2	12	5	0
chr22	20094770	20094770	A	G	exonic	DGCR8	.	nonsynonymous SNV	DGCR8:NM_001190326:exon8:c.A1664G:p.K555R,DGCR8:NM_022720:exon9:c.A1763G:p.K588R	.	410	1080	30	2	0	34	0.0154968	.	.	.	2821944	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.157	0.0256118393623	0.0070	0.00339457	0.0060	0.0013	0.0033	0	0.0041	0.0083	0.0077	0.0058	0.0059702	923	154602	rs35569747	0.0074	0.0074	0.0073	0.0075	0.0154	0.0073	0.0072	0.0129	0.0119	0.0009	0.0047	0.0144	2.519e-05	0.0037	0.0154	0.0079	0.0084	0.0069	0.0054	0.0054	0.0059	0.0048	0.0078	0.0051	0.0050	0.0069	0.0067	0.0013	0.0066	0.0078	0.0115	0.0002	0.0046	0.0170	0.0074	0.0104	0.0035	0.13	0.31987	T	0.18	0.29442	T	0.985	0.68779	D	0.637	0.78936	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.55	0.14455	N	1.4	0.33630	T	-0.7	0.21215	N	0.426	0.47301	-0.9752	0.36082	T	0.130	0.44028	T	10	0.0076841116	0.00175	T	0.025612	0.48570	D	0.157	0.40909	.	.	0.389984549148	0.38611	0.4073866396673601	0.40654	1.8671837485	0.92471	0.765044927597	0.76682	T	0.182182	0.53411	T	-0.393458	0.02555	T	-0.332684	0.41169	T	0.0218102442706932	0.00888	T	0.943306	0.78595	D	0.14382163	0.33039	0.18520966	0.41620	0.14382163	0.33039	0.18520966	0.41619	-5.532	0.42166	T	.	.	0.117	0.23570	B	.;.;.	.;.;.	4.787177	0.77651	26.7	0.99878657614916455	0.95491	0.98176	0.80261	D	AEFBHCI	0.894824	0.83422	D	0.645528606152984	0.76081	6.42092	0.690430907318687	0.81653	7.576989	0.999999999999967	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.82	5.82	0.92740	8.941000	0.92488	11.286000	0.91899	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.836	0.78574	538	0.73119	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.012085	0.015152	0.013587	0.023392	0.000000	0.000000	0.006098	0.011364	0.05263	1235.83	63	chr22	20094770	.	A	G	1235.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.909;DP=697;ExcessHet=0.119;FS=1.517;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.13;ReadPosRankSum=1.8;SOR=0.818	GT:AD:DP:GQ:PL	0/1:21,27:48:99:680,0,605	17	0	2	0
chr22	21216084	21216084	C	T	exonic	GGT2	.	nonsynonymous SNV	GGT2:NM_001351304:exon10:c.G589A:p.G197S	.	708	711	85	18	0	121	0.0784187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025511	664	26028	rs55710139	7.199e-06	1.59e-05	2.859e-06	1.16e-05	2.647e-05	3.64e-06	2.65e-06	2.72e-06	1.75e-06	0	0	0	2.647e-05	0	0	6.546e-06	1.74e-05	1.241e-05	5.682e-05	7.425e-05	5.532e-05	5.84e-05	9.519e-05	2.739e-05	2.062e-05	4.112e-05	2.739e-05	2.491e-05	0	8e-05	0	0	0	0	9.519e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3611	1557.51	24	chr22	21216084	.	C	T	1557.51	.	AC=13;AF=0.361;AN=36;BaseQRankSum=2.24;DP=256;ExcessHet=13.8672;FS=0;InbreedingCoeff=-0.5792;MLEAC=14;MLEAF=0.389;MQ=46.12;MQRankSum=-2.189;QD=9.27;ReadPosRankSum=-0.593;SOR=0.681	GT:AD:DP:GQ:PL	0/1:7,3:10:51:51,0,177	5	0	13	1
chr22	23311788	23311788	-	CCGG	exonic	BCR	.	frameshift insertion	BCR:NM_021574:exon18:c.3142_3143insCCGG:p.V1050Rfs*17,BCR:NM_004327:exon19:c.3274_3275insCCGG:p.V1094Rfs*17	Leukemia, acute lymphocytic, somatic;Leukemia, chronic myeloid, somatic	25	583	905	9	0	923	0.441838	.	.	.	1196252	Chronic_myelogenous_leukemia,_BCR-ABL1_positive|not_provided	Human_Phenotype_Ontology:HP:0005506,Human_Phenotype_Ontology:HP:0005544,MONDO:MONDO:0011996,MeSH:D015464,MedGen:C0279543,OMIM:608232,Orphanet:521|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012679	33	26028	rs372013175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4211	10811.0	92	chr22	23311788	.	T	TCCGG	10811.0	.	AC=16;AF=0.421;AN=38;BaseQRankSum=0.736;DP=1944;ExcessHet=25.4433;FS=20.732;InbreedingCoeff=-0.7273;MLEAC=16;MLEAF=0.421;MQ=55.07;MQRankSum=-7.837;QD=6.32;ReadPosRankSum=-0.502;SOR=2.084	GT:AD:DP:GQ:PL	0/1:81,15:96:99:385,0,3336	3	0	16	0
chr22	24232851	24232851	G	A	exonic	GGT5	.	nonsynonymous SNV	GGT5:NM_001302465:exon2:c.C341T:p.A114V,GGT5:NM_001099782:exon3:c.C472T:p.R158W,GGT5:NM_001302464:exon3:c.C472T:p.R158W,GGT5:NM_001099781:exon4:c.C568T:p.R190W,GGT5:NM_004121:exon4:c.C568T:p.R190W	.	405	1115	2	0	0	2	0.000896057	.	.	.	2673056	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.083	0.0546425233167	7.7e-05	0.000199681	0.0003	0.0006	0.0009	0	0	0.0004	0	0	9.06e-05	14	154602	rs146969821	7.681e-05	0.0001	7.161e-05	8.214e-05	0.0022	6.495e-05	6.037e-05	0.0013	0.0010	0.0002	0.0001	0	2.673e-05	0	0.0022	5.916e-05	0.0003	5.029e-05	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	9.698e-05	0.0001	9.904e-05	0.0002	0	0.0003	0	0	0	0	0.0002	0	0	0.003	0.68238	D	0.003	0.76473	D	0.988	0.67487	D	0.764	0.63276	P	0.376865	0.04396	N	1.433940	1	0.08975	N	2.015	0.55033	M	1.9	0.23486	T	-2.78	0.61435	D	0.508	0.56489	-0.9001	0.47983	T	0.116	0.40986	T	10	0.16185963	0.30350	T	0.054643	0.65935	D	0.145	0.38592	.	.	0.305410167561	0.30157	0.7722193506555136	0.77171	0.721110815847	0.62218	0.378246188164	0.22006	T	0.175463	0.52506	T	-0.124074	0.32460	T	-0.416	0.31534	T	0.125588240145167	0.14969	T	0.877812	0.59215	D	0.34906015	0.56994	0.3010832	0.56141	0.34906015	0.56994	0.3010832	0.56140	-7.126	0.55165	T	.	.	0.141	0.30920	B	.;.;.	.;.;.	2.419895	0.31114	18.64	0.9966650081894457	0.78266	0.09638	0.15349	N	AEFDBI	0.198417	0.32528	N	-0.677371209525004	0.16668	0.8512222	-0.910126465179528	0.11855	0.6064943	0.00445417175288555	0.10566	0.706548	0.73137	0	0.573888	0.26702	0	0.59043	0.30614	0	0.714379	0.83352	0	.	.	3.61	-1.73	0.07646	-0.380000	0.07484	-0.686000	0.07862	-0.244000	0.07312	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.0:0.0:0.3136:0.6864	10.362	0.43181	878	0.29785	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004103	0.000000	0.006831	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	603.33	35	chr22	24232851	.	G	A	603.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.02;DP=693;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.94;ReadPosRankSum=-0.109;SOR=0.749	GT:AD:DP:GQ:PL	0/1:49,27:76:99:617,0,1184	18	0	1	0
chr22	32221015	32221015	C	T	exonic	SLC5A4	.	nonsynonymous SNV	SLC5A4:NM_014227:exon14:c.G1673A:p.R558H	.	436	1077	9	0	0	9	0.00416089	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.369	.	0.0020	0.00938498	0.0055	0.0018	0.0024	0.0227	0.0015	0.0019	0.0078	0.0170	0.0051358	794	154602	rs74530943	0.0030	0.0031	0.0027	0.0034	0.0151	0.0030	0.0029	0.0144	0.0141	0.0022	0.0013	0.0001	0.0119	0.0012	0.0023	0.0020	0.0032	0.0151	0.0034	0.0034	0.0030	0.0037	0.0195	0.0031	0.0030	0.0163	0.0151	0.0022	0	0.0009	0	0.0185	0.0012	0	0.0029	0.0028	0.0195	0.067	0.35918	T	0.062	0.45318	T	0.396	0.34753	B	0.077	0.28532	B	0.000003	0.62929	D	0.060319	0.999979	0.53665	D	3.795	0.95366	H	-1.54	0.81640	D	-4.39	0.77225	D	0.415	0.45520	-0.2754	0.75665	T	0.360	0.72178	T	10	0.011101097	0.00244	T	.	.	.	0.369	0.68844	.	.	0.667061428616	0.66425	0.3824672367122118	0.38161	0.709260744387	0.61606	0.340156078339	0.16462	T	0.135292	0.46703	T	-0.335446	0.05709	T	-0.232309	0.51547	T	0.118817867007295	0.14315	T	0.971703	0.89738	D	0.22683	0.45372	0.19507827	0.43165	0.22683	0.45372	0.19507827	0.43164	-8.267	0.62875	D	.	.	0.154	0.34004	B	.	.	3.944963	0.57750	23.9	0.99325729805332119	0.59584	0.93370	0.58035	D	AEFBI	0.610881	0.59954	D	-0.0488394912627333	0.39654	2.341997	-0.0668980013888442	0.36767	2.143983	0.999553041317539	0.40362	0.553676	0.25195	0	0.59043	0.45803	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	4.49	3.48	0.38946	4.507000	0.60155	3.222000	0.36859	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.9026:0.0:0.0974	10.191	0.42202	259	0.89842	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.005051	0.004076	0.002924	0.000000	0.000000	0.003049	0.000000	0.07895	3773.77	34	chr22	32221015	.	C	T	3773.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.535;DP=750;ExcessHet=0;FS=1.675;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=23.44;ReadPosRankSum=0.617;SOR=0.536	GT:AD:DP:GQ:PL	1/1:0,85:85:99:2733,255,0	17	1	1	0
chr22	37713346	37713346	G	A	exonic	TRIOBP	.	nonsynonymous SNV	TRIOBP:NM_001039141:exon5:c.G391A:p.G131S	Deafness, autosomal recessive 28, Autosomal recessive	0	1475	45	2	0	49	0.0163388	.	.	.	53019	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.052	.	0.0049	0.00299521	0.0047	0.0013	0.0023	0	0.0003	0.0072	0.0033	0.0022	0.0045601	705	154602	rs144634857	0.0052	0.0052	0.0051	0.0053	0.0291	0.0051	0.0050	0.0255	0.0242	0.0015	0.0034	0.0277	5.038e-05	0.0003	0.0291	0.0053	0.0061	0.0024	0.0046	0.0046	0.0046	0.0045	0.0071	0.0043	0.0042	0.0060	0.0056	0.0009	0.0548	0.0071	0.0254	0.0002	9.434e-05	0.0137	0.0055	0.0062	0.0031	0.421	0.09806	T	0.74	0.04982	T	0.066	0.23586	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	2.0	0.21473	T	0.21	0.04776	N	0.142	0.14196	-1.0020	0.29342	T	0.020	0.08453	T	9	0.0030972362	0.00051	T	.	.	.	0.052	0.14661	.	.	0.139678290688	0.13603	0.06387593807253937	0.06326	0.115210398567	0.12999	0.240315154195	0.02819	T	0.011006	0.09875	T	-0.662728	0.00060	T	-0.722128	0.04694	T	0.00037377022165025	0.00003	T	0.320668	0.06474	T	0.01437947	0.00091	0.03935685	0.04010	0.014525475	0.00097	0.044263344	0.05697	-3.516	0.16657	T	.	.	0.083	0.09143	B	.;.	.;.	0.046857	0.04616	1.282	0.88336276201371966	0.17897	0.00904	0.03537	N	AEFDBI	0.027802	0.02336	N	-1.33806225441425	0.03250	0.1448681	-1.4064561002538	0.03187	0.1481455	0.0416091776877352	0.14491	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.562822	0.20929	0	.	.	4.84	-4.59	0.03158	-0.333000	0.07938	-0.436000	0.09190	-1.875000	0.00548	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.7062:0.0:0.2938:0.0	11.702	0.50839	929	0.16858	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.030211	0.035354	0.020380	0.064327	0.000000	0.051724	0.021341	0.011364	0.05263	1447.83	36	chr22	37713346	.	G	A	1447.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.79;DP=733;ExcessHet=0.119;FS=1.313;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=9.85;ReadPosRankSum=1.07;SOR=0.574	GT:AD:DP:GQ:PL	0/1:44,28:72:99:713,0,994	17	0	2	0
chr22	41909797	41909797	T	C	exonic	SHISA8	.	nonsynonymous SNV	SHISA8:NM_001207020:exon4:c.A1162G:p.R388G,SHISA8:NM_001353438:exon4:c.A1447G:p.R483G,SHISA8:NM_001353439:exon4:c.A1339G:p.R447G	.	431	1053	37	1	0	39	0.0181818	.	.	.	2819613	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0052	0	0	0	.	0.0168	0	0.0015	0.0004528	70	154602	rs756893043	0.0011	0.0011	0.0011	0.0012	0.0196	0.0011	0.0011	0.0166	0.0155	0.0012	0.0010	0.0166	0	0	0.0196	0.0007	0.0026	0.0011	0.0012	0.0012	0.0012	0.0012	0.0019	0.0010	0.0010	0.0010	0.0008	0.0003	0.0033	0.0010	0.0158	0	0	0.0204	0.0011	0.0028	0.0019	.	.	.	0.424	0.13953	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.163	0.17140	.	.	.	.	.	.	.	0.008136481	0.00185	T	.	.	.	.	.	.	.	0.631991100555	0.62898	0.1294892711660731	0.12873	.	.	0.441900193691	0.30837	T	.	.	.	-0.308221	0.07906	T	-0.271863	0.47630	T	.	.	.	0.50265	0.15781	T	0.33455953	0.55842	0.341038	0.59848	0.33455953	0.55842	0.341038	0.59848	-4.31	0.28316	T	.	.	0.108	0.20313	B	.	.	2.696450	0.35208	19.84	0.64420621177009363	0.07489	0.14849	0.18617	N	AEFDBCIJ	.	.	.	.	.	.	.	.	.	0.999979861925652	0.50053	0.256391	0.04301	0	0.274575	0.05135	0	0.183864	0.04481	0	0.109499	0.03221	0	0.145135	0.27050	3.8	2.63	0.30420	1.037000	0.29850	1.412000	0.26289	0.659000	0.54702	0.775000	0.29414	0.999000	0.35428	0.889000	0.42754	0.2262:0.1233:0.0:0.6505	2.706	0.04843	131	0.94738	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003559	0.020000	0.019231	0.017241	0.000000	0.000000	0.008065	0.000000	0.07895	3181.79	33	chr22	41909797	.	T	C	3181.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.098;DP=802;ExcessHet=0.3672;FS=1.588;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=13.43;ReadPosRankSum=-0.711;SOR=0.833	GT:AD:DP:GQ:PL	0/1:31,36:67:99:917,0,762	16	0	3	0
chr22	42086248	42086248	G	A	exonic	NDUFA6	.	nonsynonymous SNV	NDUFA6:NM_002490:exon3:c.C322T:p.H108Y	.	414	1070	37	1	0	39	0.0178981	.	.	.	215603	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.182	0.00650887435971	0.0036	0.00339457	0.0028	0.0074	0.0017	0	0	0.0034	0.0077	0.0008	0.0026261	406	154602	rs113437301	0.0017	0.0017	0.0017	0.0018	0.0199	0.0017	0.0016	0.0170	0.0159	0.0079	0.0021	0.0307	0	0	0.0199	0.0008	0.0046	0.0011	0.0037	0.0037	0.0038	0.0037	0.0073	0.0034	0.0033	0.0067	0.0064	0.0073	0.0033	0.0037	0.0288	0	0	0.0238	0.0011	0.0052	0.0019	.	.	.	0.115	0.36630	T	.	.	.	.	.	.	0.000001	0.62929	D	0.131299	0.999274	0.46519	D	.	.	.	.	.	.	.	.	.	0.179	0.23125	-0.7386	0.58524	T	0.220	0.58253	T	10	0.007718563	0.00175	T	0.006509	0.17157	T	0.182	0.45420	.	.	0.215869574891	0.21205	0.7120836117721743	0.71150	0.240868912627	0.26625	0.622457921505	0.56076	T	0.035167	0.23613	T	-0.316477	0.07190	T	-0.223508	0.52398	T	0.0155966509877632	0.00356	T	.	.	.	0.4964389	0.66885	0.66959906	0.80617	0.7058119	0.78377	0.63814104	0.78868	-6.719	0.51954	T	.	.	0.149	0.38263	B	.;.;.	.;.;.	3.598522	0.50813	23.0	0.99581292421025602	0.73040	0.93725	0.59013	D	AEFDBCIJ	0.748094	0.68995	D	0.270511061285913	0.54660	3.631111	0.44168999425464	0.64186	4.667936	0.999999466425253	0.74766	0.741895	0.98168	0	0.702456	0.74545	0	0.702456	0.68683	0	0.725737	0.93299	0	.	.	6.17	6.17	0.99707	5.603000	0.67304	9.943000	0.82671	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	20.474	0.99171	108	0.95573	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.017120	0.015152	0.023098	0.040936	0.000000	0.008621	0.012195	0.003788	0.07895	2758.79	33	chr22	42086248	.	G	A	2758.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.31;DP=838;ExcessHet=0.3672;FS=0.945;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=10.37;ReadPosRankSum=0.191;SOR=0.616	GT:AD:DP:GQ:PL	0/1:64,43:107:99:921,0,1647	16	0	3	0
chr22	42128812	42128812	A	G	exonic	CYP2D6;CYP2D7	.	nonsynonymous SNV	CYP2D6:NM_001025161:exon3:c.T485C:p.L162P,CYP2D6:NM_000106:exon4:c.T638C:p.L213P	.	1	1317	204	0	0	204	0.0718816	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.557	0.0602619546016	.	.	0.0034	0.0012	0.0015	0.0014	0.0018	0.0047	0.0040	0.0021	0.0023544	364	154602	rs199535154	0.0003	0.0094	0.0003	0.0003	0.0022	0.0002	0.0002	0.0013	0.0011	0.0015	0.0003	0.0004	0.0006	0.0006	0.0022	0.0002	0.0003	0.0003	0.0001	0.0016	6.523e-05	0.0002	0.0004	7.691e-05	6.376e-05	0.0001	8.654e-05	0.0002	0	0	0	0.0004	0	0	0.0001	0	0	0.016	0.72154	D	0.004	0.74150	D	.	.	.	.	.	.	0.079050	0.21007	N	0.393637	0.984414	0.40142	D	3.135	0.88152	M	-1.43	0.80730	T	-5.73	0.87611	D	0.817	0.81261	0.414	0.89311	D	0.663	0.88295	D	10	0.12101528	0.22933	T	0.060262	0.67943	D	0.557	0.81774	.	.	0.906819982349	0.90588	0.8191287958858098	0.81869	0.67802315983	0.59861	0.312496066093	0.12283	T	0.044594	0.40051	T	0.029515	0.55659	T	0.219179	0.84132	D	0.250423282384872	0.22892	T	0.739826	0.35853	T	0.5728783	0.71218	0.38634163	0.63529	0.5728783	0.71219	0.38634163	0.63529	-9.555	0.71201	D	.	.	0.479	0.69738	A	.;.;.;.;.	.;.;.;.;.	3.184167	0.43231	21.7	0.99267575361889293	0.57423	0.11286	0.16533	N	AEFDBI	0.398871	0.47438	N	0.0379738385441093	0.43589	2.64896	-0.230169009795182	0.30461	1.715271	5.06273264100705E-4	0.07176	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.604944	0.38103	0	.	.	3.52	3.52	0.39415	2.920000	0.48541	1.949000	0.29874	-0.094000	0.16080	0.013000	0.18845	0.000000	0.08366	0.000000	0.00833	1.0:0.0:0.0:0.0	8.696	0.33455	106	0.95650	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.018182	0.005747	0.016484	0.050420	0.000000	0.043860	0.003546	0.004065	0.1667	3393.89	35	chr22	42128812	.	A	G	3393.89	.	AC=6;AF=0.167;AN=36;BaseQRankSum=-0.086;DP=2055;ExcessHet=2.1469;FS=9.869;InbreedingCoeff=-0.2;MLEAC=6;MLEAF=0.167;MQ=52.6;MQRankSum=-7.41;QD=2.56;ReadPosRankSum=-3.691;SOR=2.067	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:267,29:296:99:0|1:42128812_A_G:414,0,11100:42128812	12	0	6	1
chr22	42141910	42141910	T	G	exonic	CYP2D7	.	unknown	UNKNOWN	.	1	1466	53	2	0	57	0.0190699	.	.	.	2819621	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0058	0.0063	0.0031	0.0011	0.0002	0.0045	0.0087	0.0159	0.0037322	577	154602	rs199515619	0.0022	0.0024	0.0022	0.0023	0.0202	0.0022	0.0022	0.0172	0.0161	0.0071	0.0027	0.0317	0.0068	0.0004	0.0202	0.0011	0.0046	0.0028	0.0036	0.0037	0.0035	0.0037	0.0059	0.0034	0.0033	0.0053	0.0050	0.0059	0.0033	0.0039	0.0306	0.0016	0.0005	0.0238	0.0013	0.0043	0.0040	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.07895	3241.79	39	chr22	42141910	.	T	G	3241.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.51;DP=1499;ExcessHet=0.3672;FS=1.756;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=54.01;MQRankSum=-4.337;QD=8.96;ReadPosRankSum=1.57;SOR=0.599	GT:AD:DP:GQ:PL	0/1:84,41:125:99:922,0,2207	16	0	3	0
chr22	42628212	42628212	G	C	exonic	CYB5R3	.	nonsynonymous SNV	CYB5R3:NM_000398:exon5:c.C403G:p.Q135E,CYB5R3:NM_001129819:exon5:c.C334G:p.Q112E,CYB5R3:NM_001171660:exon5:c.C502G:p.Q168E,CYB5R3:NM_007326:exon5:c.C334G:p.Q112E,CYB5R3:NM_001171661:exon6:c.C334G:p.Q112E	Methemoglobinemia, type I, Autosomal recessive;Methemoglobinemia, type II, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	3529139	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.135	0.02278608635	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.163e-05	1.163e-05	1.906e-05	4.125e-06	0.0004	7.08e-06	5.79e-06	0.0003	0.0002	0	0	0	0.0004	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	0.15509	T	0.158	0.31629	T	0.0	0.02946	B	0.001	0.04355	B	0.122656	0.18947	N	0.560821	0.910659	0.27513	N	0.31	0.10265	N	-1.88	0.84487	D	-0.67	0.19297	N	0.156	0.19861	-0.7660	0.57077	T	0.378	0.73535	T	10	0.17329568	0.32148	T	0.022786	0.45709	T	0.135	0.36572	0.347	0.34274	0.84911352479	0.84766	0.45253909369462064	0.45171	0.0421983210301	0.04548	0.341808229685	0.16709	T	0.120949	0.44355	T	-0.0186466	0.49046	T	-0.264561	0.48367	T	0.0894569021099759	0.11152	T	0.926807	0.73422	D	0.39689773	0.60517	0.16313446	0.37859	0.39689773	0.60517	0.16313446	0.37859	-4.836	0.35008	T	0.10829718905198908	0.08913	0.081	0.11366	B	.;.;.;.;.;.	.;.;.;.;.;.	1.893244	0.24047	16.25	0.93182061926077575	0.22844	0.81044	0.40533	D	AEFDBI	0.360398	0.45038	N	-0.462268667999279	0.23325	1.251817	-0.3628814882154	0.26114	1.440323	0.998329225089256	0.36758	0.722319	0.85440	0	0.702456	0.74545	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	3.92	0.162	0.14269	2.114000	0.41535	1.324000	0.25623	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.3356:0.6644	12.172	0.53471	264	0.89640	.;Flavoprotein pyridine nucleotide cytochrome reductase-like, FAD-binding domain|FAD-binding domain, ferredoxin reductase-type;.;.;.;Flavoprotein pyridine nucleotide cytochrome reductase-like, FAD-binding domain|FAD-binding domain, ferredoxin reductase-type	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1028.33	33	chr22	42628212	.	G	C	1028.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.571;DP=718;ExcessHet=0;FS=1.763;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=1.14;SOR=0.645	GT:AD:DP:GQ:PL	0/1:44,42:86:99:1042,0,1158	18	0	1	0
chr22	42808780	42808780	T	C	exonic	ARFGAP3	.	nonsynonymous SNV	ARFGAP3:NM_001142293:exon12:c.A1175G:p.Q392R,ARFGAP3:NM_014570:exon13:c.A1307G:p.Q436R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.263	0.0230439425846	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.111	0.37173	T	0.917	0.50750	P	0.424	0.45210	B	0.000064	0.52346	D	0.128721	0.999995	0.58761	D	2.66	0.77858	M	3.46	0.05507	T	-2.75	0.58407	D	0.637	0.64989	-1.1037	0.03672	T	0.037	0.15986	T	10	0.5012514	0.61561	D	0.023044	0.45988	T	0.263	0.57612	0.247	0.18293	0.39843156188	0.39459	0.3578040163111844	0.35694	0.305991248268	0.32896	0.558672904968	0.47080	T	0.079186	0.36069	T	-0.00437859	0.51050	T	-0.244066	0.50400	T	0.964187204837799	0.66881	D	0.866813	0.70605	D	0.49214524	0.66630	0.51489633	0.71970	0.49214524	0.66631	0.51489633	0.71971	-11.586	0.82972	D	.	.	0.108	0.27762	B	.;.	.;.	4.198050	0.63329	24.6	0.99833671031109561	0.91542	0.99534	0.97166	D	AEFDBI	0.876994	0.80134	D	0.416082353979794	0.62306	4.444377	0.460667606260105	0.65404	4.820	0.999999995315203	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.709663	0.75317	0	0.735409	0.98432	0	.	.	4.95	4.95	0.64894	7.014000	0.76124	7.708000	0.66649	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.0:0.0:1.0	13.573	0.61320	645	0.63593	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1217.33	35	chr22	42808780	.	T	C	1217.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.876;DP=788;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.32;ReadPosRankSum=-0.669;SOR=0.722	GT:AD:DP:GQ:PL	0/1:37,48:85:99:1231,0,933	18	0	1	0
chr22	43555069	43555069	G	A	exonic	EFCAB6	.	nonsynonymous SNV	EFCAB6:NM_198856:exon25:c.C2992T:p.P998S,EFCAB6:NM_022785:exon27:c.C3448T:p.P1150S	.	429	1044	45	4	0	53	0.0247548	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	.	0.0048	0.00339457	0.0063	0.0012	0.0046	0.0001	0.0002	0.0070	0.0088	0.0134	0.0063065	975	154602	rs34344550	0.0064	0.0064	0.0060	0.0068	0.0385	0.0063	0.0062	0.0343	0.0327	0.0017	0.0056	0.0239	2.519e-05	0.0004	0.0385	0.0058	0.0085	0.0142	0.0052	0.0052	0.0051	0.0052	0.0116	0.0049	0.0048	0.0092	0.0083	0.0012	0.0121	0.0074	0.0262	0.0002	0.0008	0.0408	0.0062	0.0114	0.0116	0.019	0.50132	D	0.044	0.50514	D	0.782	0.44333	P	0.327	0.41976	B	0.017104	0.27806	N	0.331763	0.988932	0.40856	D	2.135	0.59519	M	2.53	0.14038	T	-2.12	0.48184	N	0.359	0.40063	-1.0884	0.05804	T	0.026	0.11176	T	10	0.005732	0.00128	T	.	.	.	0.053	0.14996	.	.	0.460438652622	0.45667	0.17847128462516607	0.17766	0.289139264481	0.31319	0.345039188862	0.17189	T	0.005845	0.05287	T	-0.524154	0.00416	T	-0.514657	0.20838	T	0.0161385539555044	0.00390	T	0.679032	0.28770	T	0.08406054	0.19440	0.12487603	0.30094	0.08406054	0.19439	0.12487603	0.30093	-3.395	0.14990	T	.	.	0.376	0.58167	A	.;.	.;.	3.640759	0.51624	23.1	0.99251523262501273	0.56891	0.89131	0.49414	D	AEFDBI	0.519927	0.54500	D	0.0774063705510916	0.45409	2.798018	0.167255593261242	0.48063	3.02744	0.719762785863193	0.22917	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.88	4.88	0.63131	3.159000	0.50430	9.379000	0.80502	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.629000	0.32131	0.0:0.0:1.0:0.0	14.877	0.70142	846	0.36215	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.032729	0.040404	0.028533	0.052632	0.000000	0.068966	0.033537	0.022727	0.07895	6636.79	36	chr22	43555069	.	G	A	6636.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.821;DP=1128;ExcessHet=0.3672;FS=0.527;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=12.67;ReadPosRankSum=-0.389;SOR=0.643	GT:AD:DP:GQ:PL	0/1:83,88:171:99:2459,0,2184	16	0	3	0
chr22	46256839	46256839	C	T	exonic	PKDREJ	.	nonsynonymous SNV	PKDREJ:NM_006071:exon1:c.G6484A:p.V2162I	.	422	1074	26	0	0	26	0.0119595	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	.	0.0022	0.00399361	0.0044	9.639e-05	0.0018	0.0001	0.0005	0.0032	0.0033	0.0174	0.0040232	622	154602	rs76372072	0.0031	0.0031	0.0025	0.0037	0.0191	0.0030	0.0030	0.0183	0.0180	0.0005	0.0019	0.0170	7.557e-05	0.0007	0.0104	0.0018	0.0041	0.0191	0.0022	0.0022	0.0019	0.0025	0.0207	0.0020	0.0019	0.0174	0.0162	0.0003	0	0.0011	0.0153	0.0004	0.0005	0.0238	0.0020	0.0014	0.0207	1.0	0.00964	T	1.0	0.01155	T	0.083	0.24734	B	0.018	0.18489	B	0.119433	0.19074	N	0.500458	1	0.08975	N	-1.32	0.00691	N	-0.3	0.67874	T	0.31	0.04022	N	0.044	0.01658	-0.9706	0.37073	T	0.042	0.18243	T	10	0.0026666224	0.00041	T	.	.	.	0.064	0.18567	.	.	0.270447802918	0.26645	0.09058381281550645	0.08991	.	.	0.261234730482	0.05039	T	0.130753	0.45983	T	-0.595348	0.00156	T	-0.613673	0.11689	T	0.000663350369647646	0.00006	T	0.511749	0.16382	T	0.0204741	0.00607	0.029370124	0.01267	0.0204741	0.00607	0.029370124	0.01267	-2.764	0.07856	T	.	.	0.055	0.00382	B	.	.	-0.625561	0.01504	0.095	0.67633524143193113	0.08413	0.03233	0.08247	N	AEFBCI	0.022214	0.01082	N	-1.41335156673469	0.02521	0.1114255	-1.30052812905977	0.04424	0.2086448	0.990116198005955	0.32043	0.516011	0.20929	0	0.59043	0.45803	0	0.577349	0.28860	0	0.530356	0.10902	0	.	.	5.56	-1.25	0.08920	-0.078000	0.11338	-4.310000	0.02224	-0.811000	0.03066	0.059000	0.21734	0.000000	0.08366	0.670000	0.33251	0.0:0.4655:0.1792:0.3553	5.541	0.16325	928	0.17405	Polycystin cation channel, PKD1/PKD2	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.010070	0.000000	0.008152	0.000000	0.150000	0.025862	0.009146	0.007576	0.02632	1400.33	64	chr22	46256839	.	C	T	1400.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.27;DP=881;ExcessHet=0;FS=1.378;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.93;ReadPosRankSum=-0.418;SOR=0.532	GT:AD:DP:GQ:PL	0/1:87,54:141:99:1414,0,2338	18	0	1	0
chrX	6533978	6533978	G	C	exonic	VCX3A	.	nonsynonymous SNV	VCX3A:NM_016379:exon3:c.C328G:p.L110V	.	475	1046	1	0	0	1	0.000477783	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.000827059541861	.	.	0.0002	0	0	0	0	0.0003	0	0	2.59e-05	4	154602	rs201730048	6.744e-05	0.0003	0.0001	0	0.0007	5.481e-05	5.042e-05	0.0005	0.0004	0.0007	8.658e-05	0	0.0001	2.541e-05	0	4.927e-05	8.816e-05	1.88e-05	0.0015	0.0024	0.0020	0	0.0047	0.0013	0.0012	0.0040	0.0037	0.0047	0	0.0006	0	0	0	0	0.0005	0	0.0005	0.328	0.17410	T	0.565	0.36497	T	0.93	0.51791	P	0.38	0.43842	B	.	.	.	.	1	0.08975	N	1.205	0.30389	L	1.97	0.22067	T	-0.1	0.08495	N	0.05	0.12627	-1.0602	0.11706	T	0.032	0.13767	T	8	0.018476099	0.00402	T	8.27E-4	0.00691	T	0.080	0.23350	0.197	0.10975	0.043077524339	0.03247	0.0027520172981819785	0.00256	0.269621044273	0.29486	0.40237224102	0.25400	T	0.002825	0.02217	T	-0.435289	0.01378	T	-0.863039	0.00811	T	0.0260989832728526	0.01420	T	0.455254	0.17838	T	0.10022819	0.23664	0.1043182	0.25051	0.10022819	0.23664	0.1043182	0.25050	0.873	0.00149	T	.	.	0.058	0.00670	B	.;.;.	.;.;.	-0.515715	0.01818	0.143	0.23495925723658584	0.00996	0.00086	0.00577	N	AEFGI	.	.	.	.	.	.	.	.	.	5.56504007266669E-5	0.04171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.587	-1.17	0.09152	-0.828000	0.04526	-1.677000	0.04934	-3.731000	0.00063	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	1000	0.00083	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.010027	0.029851	0.007890	0.006579	0.142857	0.000000	0.013333	0.006944	0.02778	450.74	53	chrX	6533978	.	G	C	450.74	.	AC=1;AF=0.028;AN=36;BaseQRankSum=0.679;DP=891;ExcessHet=0;FS=8.736;InbreedingCoeff=-0.0428;MLEAC=1;MLEAF=0.028;MQ=34.04;MQRankSum=1.65;QD=5.43;ReadPosRankSum=1.23;SOR=1.981	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:67,16:83:99:0|1:6533973_C_T:464,0,2745:6533973	17	0	1	1
chrX	7843963	7843963	G	A	exonic	VCX	.	nonsynonymous SNV	VCX:NM_013452:exon3:c.G568A:p.V190M	.	437	977	32	24	52	132	0.0393314	.	.	.	2823790	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.114	.	.	0.00397351	0.0023	0.0005	0.0015	0	0.0064	0.0024	0.0034	0.0033	0.0033311	515	154602	rs201876650	0.0058	0.0087	0.0070	0.0034	0.0127	0.0057	0.0056	0.0090	0.0078	0.0004	0.0027	0.0047	4.041e-05	0.0127	0.0127	0.0060	0.0058	0.0058	0.0042	0.0065	0.0052	0.0001	0.0066	0.0038	0.0037	0.0059	0.0056	0.0006	0	0.0016	0.0077	0	0.0070	0	0.0066	0.0033	0.0061	0.138	0.25873	T	0.106	0.37872	T	0.96	0.55278	D	0.35	0.42815	B	.	.	.	.	1	0.08975	N	0.255	0.09829	N	1.95	0.22474	T	-0.73	0.25986	N	0.067	0.03956	-0.9754	0.36037	T	0.015	0.06090	T	8	0.0065913796	0.00149	T	.	.	.	0.114	0.32008	.	.	0.043077524339	0.03247	0.0032430097609367696	0.00302	0.354020575304	0.37190	0.454822123051	0.32603	T	0.011581	0.10309	T	-0.720018	0.00028	T	-0.892538	0.00557	T	0.00885473886292793	0.00110	T	0.460954	0.13351	T	0.105991945	0.25061	0.08594243	0.19877	0.105991945	0.25061	0.08594243	0.19877	-6.074	0.46894	T	.	.	0.125	0.26514	B	.;.	.;.	1.214405	0.16076	12.30	0.56313972898184261	0.05526	0.00026	0.00253	N	AEFI	.	.	.	.	.	.	.	.	.	2.63253077637493E-4	0.06244	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.318000	0.02813	-3.812000	0.02521	-2.279000	0.00328	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.0:0.6784:0.3216:0.0	5.945	0.18451	1000	0.00083	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.007212	0.010753	0.001873	0.011628	0.000000	0.012048	0.010582	0.011561	0.03571	912.69	367	chrX	7843963	.	G	A	912.69	.	AC=1;AF=0.036;AN=28;BaseQRankSum=2.04;DP=4175;ExcessHet=0.4139;FS=2.597;InbreedingCoeff=0.0411;MLEAC=1;MLEAF=0.036;MQ=47.75;MQRankSum=-4.171;QD=1.81;ReadPosRankSum=0.08;SOR=0.993	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:268,65:333:99:.:.:924,0,8949:.	13	0	1	5
chrX	8466126	8466215	GAACCACTGAGTCAGGAGAGCGAGGTGGAAGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGGTGGAA	-	exonic	VCX3B	.	nonframeshift deletion	VCX3B:NM_001001888:exon3:c.484_573del:p.E169_S198del	.	573	905	12	5	27	49	0.0120087	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0013	0.0099	0.0021	0.0061	0.0003	0.0005	0	0.0013	3.84e-05	1	26028	.	0.0037	0.0043	0.0046	0.0012	0.0412	0.0036	0.0036	0.0387	0.0377	0.0127	0.0412	0.0042	0.0227	0.0085	0.0074	0.0016	0.0073	0.0067	0.0085	0.0086	0.0103	0.0001	0.0528	0.0077	0.0074	0.0384	0.0335	0.0377	0	0.0279	0.0007	0.0528	0.0031	0	0.0034	0.0021	0.0064	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1389	3348.83	6	chrX	8466125	.	GGAACCACTGAGTCAGGAGAGCGAGGTGGAAGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGGTGGAA	G	3348.83	.	AC=5;AF=0.139;AN=36;BaseQRankSum=2.44;DP=763;ExcessHet=0;FS=1.892;InbreedingCoeff=0.5813;MLEAC=4;MLEAF=0.111;MQ=43.64;MQRankSum=0.774;QD=9.82;ReadPosRankSum=0.111;SOR=0.808	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:195,53:248:99:0|1:8466125_GGAACCACTGAGTCAGGAGAGCGAGGTGGAAGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGGTGGAA_G:866,0,6310:8466125	15	2	1	1
chrX	10136714	10136714	C	T	exonic	WWC3	.	nonsynonymous SNV	WWC3:NM_015691:exon20:c.C2845T:p.R949C	.	439	1079	3	1	0	5	0.0023116	.	.	.	706030	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.491	.	0.0029	0.00211921	0.0032	0.0012	0.0013	0	0.0075	0.0044	0	0.0013	0.003053	472	154602	rs56399961	0.0047	0.0047	0.0049	0.0045	0.0053	0.0046	0.0046	0.0052	0.0051	0.0005	0.0014	0.0004	9.935e-05	0.0087	0.0017	0.0053	0.0038	0.0022	0.0031	0.0031	0.0032	0.0030	0.0049	0.0029	0.0028	0.0044	0.0042	0.0007	0	0.0011	0.0004	0	0.0086	0.0046	0.0049	0.0013	0.0016	0.013	0.53900	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.047041	1	0.81001	D	2.47	0.71715	M	0.32	0.58468	T	-7.28	0.94430	D	0.597	0.61596	0.016	0.82572	D	0.474	0.79800	T	9	0.011451811	0.00250	T	.	.	.	0.491	0.77783	.	.	0.903254300653	0.90229	0.7149916273487567	0.71442	0.733945560766	0.62870	0.762564659119	0.76311	T	0.31203	0.68388	T	0.0204195	0.54438	T	0.26112	0.86147	D	0.0345290282816599	0.02728	T	0.955604	0.83128	D	0.79333913	0.83483	0.79917395	0.88218	0.79333913	0.83484	0.79917395	0.88219	-10.165	0.74893	D	.	.	0.723	0.73892	P	.	.	5.137844	0.86009	28.8	0.99941005935291372	0.99797	0.96049	0.67302	D	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999999999998306	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.75	5.75	0.90390	4.670000	0.61276	7.480000	0.59248	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:1.0:0.0:0.0	18.985	0.92743	728	0.54609	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1175.33	54	chrX	10136714	.	C	T	1175.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.77;DP=781;ExcessHet=0;FS=6.674;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.87;ReadPosRankSum=1.61;SOR=1.361	GT:AD:DP:GQ:PL	0/1:53,46:99:99:1189,0,1250	18	0	1	0
chrX	24364312	24364312	-	TCCTGCTCCTGCTCTAGCTGCTGCTG	exonic	SUPT20HL1	.	stopgain	SUPT20HL1:NM_001136234:exon1:c.1630_1631insTCCTGCTCCTGCTCTAGCTGCTGCTG:p.P544Lfs*6	.	385	1083	16	7	31	61	0.0136612	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.943e-05	0.0002	4.363e-05	0	0.0001	1.766e-05	1.4e-05	5.086e-05	3.046e-05	0	0	9.59e-05	0	0	0	2.12e-05	8.789e-05	0.0001	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03571	1243.64	146	chrX	24364312	.	C	CTCCTGCTCCTGCTCTAGCTGCTGCTG	1243.64	.	AC=1;AF=0.036;AN=28;BaseQRankSum=1.99;DP=1570;ExcessHet=0.0012;FS=7.718;InbreedingCoeff=0.3681;MLEAC=1;MLEAF=0.036;MQ=59.79;MQRankSum=0;QD=6.38;ReadPosRankSum=2.49;SOR=1.205	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:24,5:29:99:.:.:645,0,2167:.	13	0	1	5
chrX	46860080	46860080	C	G	exonic	RP2	.	nonsynonymous SNV	RP2:NM_006915:exon3:c.C861G:p.D287E	Retinitis pigmentosa 2, X-linked	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.230313912941	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1164991027	1.322e-05	0.0002	1.926e-05	0	1.486e-05	7.67e-06	6e-06	7.92e-06	6.26e-06	0	0	0	0	2.497e-05	0	1.486e-05	2.235e-05	0	1.798e-05	2.619e-05	2.576e-05	0	6.526e-05	2.99e-06	1.12e-06	1.081e-05	4.04e-06	6.526e-05	0	0	0	0	0	0	0	0	0	0.761	0.03471	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.004404	0.33773	N	0.334919	0.507853	0.31672	N	0.57	0.15267	N	-1.05	0.76690	T	0.03	0.06612	N	0.03	0.00717	-0.9042	0.47538	T	0.175	0.51911	T	10	0.058759242	0.06959	T	0.230314	0.88224	D	0.168	0.42943	0.195	0.10705	0.128874641272	0.12493	0.2934621766006824	0.29259	0.277198454346	0.30193	0.347113490105	0.17496	T	0.056646	0.30345	T	-0.384829	0.02904	T	-0.790557	0.02150	T	0.0884944275021553	0.11037	T	0.659134	0.26825	T	0.07924659	0.18093	0.045651473	0.06190	0.07924659	0.18093	0.045651473	0.06189	-3.296	0.13686	T	0.16473243430326467	0.20376	0.083	0.09094	B	.	.	1.155586	0.15440	11.85	0.95785485670045956	0.27815	0.83476	0.42591	D	AEFBI	.	.	.	.	.	.	.	.	.	0.752834093680785	0.23387	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.65	-0.524	0.11325	-0.132000	0.10446	0.440000	0.18415	0.599000	0.40250	0.838000	0.30254	0.994000	0.32194	0.991000	0.66497	0.3325:0.2238:0.0:0.4437	4.248	0.10130	131	0.94738	Tubulin binding cofactor C-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07895	85.14	33	chrX	46860080	.	C	G	85.14	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-2.058;DP=678;ExcessHet=0.3672;FS=247.053;InbreedingCoeff=-0.0851;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=0.74;ReadPosRankSum=1;SOR=8.121	GT:AD:DP:GQ:PL	0/1:46,17:63:84:84,0,938	16	0	3	0
chrX	50607726	50607726	-	C	exonic	SHROOM4	.	frameshift insertion	SHROOM4:NM_020717:exon6:c.3415dupG:p.E1139Gfs*39	.	103	1386	25	8	0	41	0.0145752	.	.	.	135753	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	no_assertion_criteria_provided	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0022	0.0009	0.0021	0	0.0017	0.0032	0.0049	0.0003	0.0005763	15	26028	rs587780460	0.0048	0.0056	0.0056	0.0030	0.0160	0.0047	0.0046	0.0129	0.0117	0.0007	0.0032	0.0385	0.0014	0.0025	0.0160	0.0044	0.0072	0.0022	0.0061	0.0058	0.0062	0.0055	0.0073	0.0056	0.0055	0.0067	0.0064	0.0010	0	0.0054	0.0573	0.0010	0.0026	0.0343	0.0073	0.0105	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	1481.79	36	chrX	50607726	.	T	TC	1481.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.24;DP=809;ExcessHet=0.119;FS=3.547;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13;ReadPosRankSum=3.31;SOR=0.485	GT:AD:DP:GQ:PL	0/1:35,24:59:99:862,0,1330	17	0	2	0
chrX	50607728	50607728	-	CC	exonic	SHROOM4	.	frameshift insertion	SHROOM4:NM_020717:exon6:c.3413_3414insGG:p.E1140Kfs*42	.	119	884	227	240	52	759	0.285657	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023	0.0008	0.0022	0	0.0026	0.0032	0.0055	0.0002	0.0006531	17	26028	rs143151534	0.0056	0.0057	0.0060	0.0048	0.0188	0.0055	0.0055	0.0152	0.0139	0.0009	0.0036	0.0445	0.0016	0.0028	0.0188	0.0052	0.0083	0.0031	0.0054	0.0055	0.0058	0.0044	0.0065	0.0051	0.0049	0.0059	0.0057	0.0010	0	0.0048	0.0503	0.0009	0.0024	0.0284	0.0065	0.0092	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	14499.4	36	chrX	50607728	.	T	TCC	14499.4	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.679;DP=857;ExcessHet=0.0125;FS=0.589;InbreedingCoeff=0.4737;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=31.25;ReadPosRankSum=-0.14;SOR=0.647	GT:AD:DP:GQ:PL	0/1:26,24:50:99:1053,0,1315	17	0	2	0
chrX	55146104	55146104	G	A	exonic	FAM104B	.	stopgain	FAM104B:NM_001166700:exon3:c.C331T:p.R111X,FAM104B:NM_001166701:exon3:c.C328T:p.R110X,FAM104B:NM_001166702:exon3:c.C319T:p.R107X,FAM104B:NM_001166703:exon3:c.C325T:p.R109X	.	438	7	893	184	0	1261	0.98902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.0042	0	0	0.0002	7.025e-05	0	0.0001	0.0310669	4803	154602	rs1047054	7.297e-06	9.106e-06	9.533e-06	2.762e-06	3.791e-05	3.14e-06	2.27e-06	6.14e-06	2.3e-06	3.791e-05	0	0	0	0	0	5.942e-06	0	3.701e-05	1.802e-05	1.746e-05	1.286e-05	3.013e-05	0.0004	2.99e-06	1.12e-06	.	.	3.282e-05	0	0	0	0	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.984587	0.24787	N	.	.	.	.	.	.	.	.	.	0.121	0.18512	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334032	0.85436	D	0.242037	0.85245	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	4.503254	0.70449	25.5	0.92570320911590998	0.22025	0.23489	0.22092	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999986651300857	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	0.637	0.16907	1.269000	0.32677	-0.938000	0.06858	0.596000	0.33519	1.000000	0.71638	0.000000	0.08366	0.291000	0.24285	0.0:0.0:0.6198:0.3802	4.504	0.11285	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.069015	0.068027	0.074212	0.055556	0.000000	0.094118	0.048673	0.068421	0.6053	329440.0	742	chrX	55146104	.	G	A	329440.0	.	AC=23;AF=0.605;AN=38;BaseQRankSum=1.47;DP=13074;ExcessHet=20.8569;FS=0;InbreedingCoeff=-0.6522;MLEAC=23;MLEAF=0.605;MQ=60;MQRankSum=0;QD=26.15;ReadPosRankSum=0.694;SOR=0.726	GT:AD:DP:GQ:PL	0/1:129,561:690:99:16457,0,1836	0	4	15	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	248356.0	575	chrX	55146212	.	C	T	248356.0	.	AC=19;AF=0.5;AN=38;BaseQRankSum=2.62;DP=10110;ExcessHet=48.2876;FS=1.42;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=60;MQRankSum=0;QD=26;ReadPosRankSum=1.35;SOR=0.54	GT:AD:DP:GQ:PL	0/1:126,378:504:99:11790,0,2317	0	0	19	0
chrX	55146226	55146226	A	G	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.T209C:p.I70T,FAM104B:NM_001166700:exon3:c.T209C:p.I70T,FAM104B:NM_001166701:exon3:c.T206C:p.I69T,FAM104B:NM_001166702:exon3:c.T197C:p.I66T,FAM104B:NM_001166703:exon3:c.T203C:p.I68T,FAM104B:NM_138362:exon3:c.T206C:p.I69T	.	377	953	191	1	0	193	0.0919485	.	.	.	2292730	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.021	0.00406903138937	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs5018687	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.403	0.10378	T	0.268	0.22694	T	0.393	0.34680	B	0.291	0.53365	B	0.039374	0.24178	N	0.273281	1	0.08975	N	0.64	0.16041	N	0.95	0.43279	T	-0.72	0.25332	N	0.2	0.23506	-0.9521	0.40608	T	0.090	0.34463	T	10	0.055033892	0.05951	T	0.004069	0.09712	T	0.021	0.04004	.	.	0.141422826196	0.13715	0.06275098226723172	0.06214	0.248494845932	0.27412	0.330263495445	0.14974	T	0.020098	0.15887	T	-0.449697	0.01134	T	-0.883735	0.00624	T	0.0690480346428045	0.08518	T	0.637636	0.25136	T	0.03846359	0.05127	0.06403163	0.12771	0.03846359	0.05127	0.06403163	0.12771	-2.966	0.10052	T	.	.	0.086	0.10787	B	.;.;.;.;.	.;.;.;.;.	-0.138938	0.03417	0.621	0.94453687128581543	0.24887	0.00870	0.03447	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999988350960953	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	-0.877	0.10083	-0.230000	0.09093	-3.501000	0.02739	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.713000	0.34548	0.5262:0.0:0.4738:0.0	4.189	0.09871	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05556	2759.58	426	chrX	55146226	.	A	G	2759.58	.	AC=2;AF=0.056;AN=36;BaseQRankSum=3.05;DP=7635;ExcessHet=0.119;FS=3.408;InbreedingCoeff=-0.0704;MLEAC=2;MLEAF=0.056;MQ=60;MQRankSum=0;QD=2.97;ReadPosRankSum=1.55;SOR=0.73	GT:AD:DP:GQ:PL	0/1:403,62:465:99:609,0,13222	16	0	2	1
chrX	55146254	55146254	T	C	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.A181G:p.S61G,FAM104B:NM_001166700:exon3:c.A181G:p.S61G,FAM104B:NM_001166701:exon3:c.A178G:p.S60G,FAM104B:NM_001166702:exon3:c.A169G:p.S57G,FAM104B:NM_001166703:exon3:c.A175G:p.S59G,FAM104B:NM_138362:exon3:c.A178G:p.S60G	.	431	15	1050	26	0	1102	0.973498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.0041360361776	.	.	0	0	0	0	0	0	0	0	0.0095666	249	26028	rs1047037	9.142e-07	4.651e-05	1.362e-06	0	1.191e-06	0	0	.	.	0	0	0	0	0	0	1.191e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.115	0.36630	T	0.18	0.29046	B	0.013	0.26930	B	0.022656	0.26593	N	0.266251	1	0.08975	N	1.125	0.28843	L	0.62	0.53302	T	-3.25	0.65972	D	0.165	0.17691	-1.0460	0.15534	T	0.083	0.32556	T	10	0.08577216	0.14513	T	0.004136	0.09900	T	0.075	0.21907	0.066	0.00312	0.141422826196	0.13715	0.08695167493373998	0.08629	0.0811463258042	0.09130	0.299347400665	0.10303	T	0.051814	0.28986	T	-0.403148	0.02207	T	-0.816871	0.01517	T	0.062755441338216	0.07595	T	0.529347	0.19916	T	0.15294263	0.34692	0.18436645	0.41484	0.15294263	0.34692	0.18436645	0.41484	-4.147	0.26024	T	.	.	0.074	0.04932	B	.;.;.;.;.	.;.;.;.;.	0.505601	0.08746	5.521	0.88816084291515585	0.18278	0.01111	0.04064	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999988486351367	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-0.917	0.09952	0.342000	0.19669	0.018000	0.13546	0.587000	0.30956	0.001000	0.13787	0.000000	0.08366	0.925000	0.46118	0.0:0.4736:0.0:0.5264	4.198	0.09911	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	119400.0	395	chrX	55146254	.	T	C	119400.0	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.566;DP=7115;ExcessHet=48.2876;FS=6.049;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.09;ReadPosRankSum=-1.393;SOR=0.475	GT:AD:DP:GQ:PL	0/1:123,232:355:99:6829,0,2826	0	0	19	0
chrX	55146275	55146275	T	G	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.A160C:p.I54L,FAM104B:NM_001166700:exon3:c.A160C:p.I54L,FAM104B:NM_001166701:exon3:c.A157C:p.I53L,FAM104B:NM_001166702:exon3:c.A148C:p.I50L,FAM104B:NM_001166703:exon3:c.A154C:p.I52L,FAM104B:NM_138362:exon3:c.A157C:p.I53L	.	427	21	1052	22	0	1096	0.963093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.0118030854457	.	.	1.142e-05	0	0	0	0	2.088e-05	0	0	0.0196828	3043	154602	rs1047034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.051	0.47828	T	0.105	0.26966	B	0.068	0.39904	B	0.152569	0.17919	U	0.451659	1	0.08975	N	1.955	0.52871	M	0.27	0.59176	T	-1.83	0.45042	N	0.551	0.57690	-0.8632	0.51032	T	0.155	0.48687	T	10	0.1871016	0.34206	T	0.011803	0.29782	T	0.098	0.28162	0.189	0.09907	0.0884992946249	0.08302	0.12338101866159702	0.12264	0.0928677804986	0.10486	0.449103206396	0.31821	T	0.163737	0.50891	T	-0.214808	0.18708	T	-0.546333	0.17678	T	0.224603921175003	0.21691	T	0.758424	0.38228	T	0.50850886	0.67592	0.29124478	0.55149	0.50850886	0.67593	0.29124478	0.55148	-2.996	0.10138	T	.	.	0.123	0.25689	B	.;.;.;.;.	.;.;.;.;.	1.130701	0.15173	11.64	0.8192711395344332	0.13930	0.34538	0.25091	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999989777015944	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-1.26	0.08892	0.742000	0.25884	-6.329000	0.01429	-0.214000	0.08267	1.000000	0.71638	0.000000	0.08366	0.065000	0.16320	0.0:0.5197:0.0:0.4803	4.529	0.11402	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.000688	0.000000	0.000000	0.000000	0.000000	0.000000	0.004425	0.000000	0.5	119815.0	315	chrX	55146275	.	T	G	119815.0	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-0.969;DP=5611;ExcessHet=48.2876;FS=13.766;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.27;ReadPosRankSum=-3.985;SOR=0.493	GT:AD:DP:GQ:PL	0/1:108,181:289:99:6027,0,3383	0	0	19	0
chrX	55146283	55146283	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G152A:p.S51N,FAM104B:NM_001166700:exon3:c.G152A:p.S51N,FAM104B:NM_001166701:exon3:c.G149A:p.S50N,FAM104B:NM_001166702:exon3:c.G140A:p.S47N,FAM104B:NM_001166703:exon3:c.G146A:p.S49N,FAM104B:NM_138362:exon3:c.G149A:p.S50N	.	397	623	499	3	0	505	0.288407	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.0110921071969	.	.	.	.	.	.	.	.	.	.	0.0152528	397	26028	rs5018688	0	9.106e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.59928	D	0.093	0.43913	T	0.393	0.56973	B	0.383	0.56425	B	0.059846	0.22293	U	0.378995	1	0.08975	N	1.89	0.50145	L	0.58	0.54149	T	-1.28	0.38924	N	0.403	0.45237	-0.9915	0.32218	T	0.137	0.45260	T	10	0.1055212	0.19508	T	0.011092	0.28353	T	0.056	0.15993	0.195	0.10705	0.117506650769	0.11410	0.13308873038305813	0.13232	0.421847818605	0.42694	0.421121031046	0.27990	T	0.02108	0.16480	T	-0.332179	0.05948	T	-0.714929	0.05044	T	0.244155928492546	0.22609	T	0.533147	0.22079	T	0.27807146	0.50863	0.22633299	0.47608	0.27807146	0.50863	0.22633299	0.47607	-4.287	0.28968	T	.	.	0.120	0.24733	B	.;.;.;.;.	.;.;.;.;.	0.299513	0.06751	3.267	0.94323433060273598	0.24650	0.08620	0.14524	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999986223079379	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	0.279	0.14929	0.332000	0.19494	-0.521000	0.08690	0.530000	0.24713	0.996000	0.39380	0.000000	0.08366	0.128000	0.19490	0.5333:0.4667:0.0:0.0	4.875	0.13009	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2647	7637.88	285	chrX	55146283	.	C	T	7637.88	.	AC=9;AF=0.265;AN=34;BaseQRankSum=-0.157;DP=4808;ExcessHet=5.3738;FS=4.353;InbreedingCoeff=-0.3572;MLEAC=10;MLEAF=0.294;MQ=60;MQRankSum=0;QD=3.68;ReadPosRankSum=-1.518;SOR=1.047	GT:AD:DP:GQ:PL	0/1:162,86:248:99:1942,0,5662	8	0	9	2
chrX	67546517	67546517	C	0	exonic	AR	.	.	.	Androgen insensitivity, X-linked recessive;Androgen insensitivity, partial, with or without breast cancer, X-linked recessive;Hypospadias 1, X-linked, X-linked recessive;Spinal and bulbar muscular atrophy of Kennedy, X-linked recessive	170	1174	107	66	5	244	0.092385	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1562	216.15	58	chrX	67546517	.	C	*	216.15	.	AC=5;AF=0.156;AN=32;BaseQRankSum=1.31;DP=620;ExcessHet=0.1688;FS=2.79;InbreedingCoeff=0.1387;MLEAC=6;MLEAF=0.188;MQ=60;MQRankSum=0;QD=1.53;ReadPosRankSum=-0.423;SOR=1.053	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:6,34:40:99:.:.:1383,0,115:.	12	1	3	3
chrX	101492694	101492694	G	A	exonic	ARMCX4	.	nonsynonymous SNV	ARMCX4:NM_001256155:exon2:c.G4105A:p.V1369I	.	422	1090	8	2	0	12	0.00547445	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00327312744138	.	0.000794702	0.0047	0	0	0	0	0.0088	0	0.0011	0.0005175	80	154602	rs111768798	0.0026	0.0024	0.0026	0.0025	0.0060	0.0025	0.0024	0.0042	0.0035	0.0005	0.0008	0.0150	0	0.0012	0.0060	0.0026	0.0031	0.0010	0.0018	0.0019	0.0020	0.0013	0.0025	0.0016	0.0015	0.0021	0.0020	0.0005	0	0.0008	0.0157	0	0.0005	0	0.0025	0.0007	0.0004	.	.	.	0.372	0.16376	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.2	0.18570	T	.	.	.	0.047	0.01911	-1.0245	0.22246	T	0.049	0.20789	T	4	0.0049176216	0.00105	T	0.003273	0.07237	T	0.021	0.04004	.	.	0.0846915920261	0.08053	0.02176080963547163	0.02128	.	.	0.600645780563	0.52995	T	.	.	.	-0.96552	0.00000	T	-1.1621	0.00006	T	0.00401072786559609	0.00043	T	0.339366	0.07307	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.110	0.21315	B	.	.	0.134198	0.05294	1.787	0.49739895296577563	0.04262	0.04419	0.10011	N	AEFBI	.	.	.	.	.	.	.	.	.	0.741358143149509	0.23217	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.61	0.64	0.16924	0.014000	0.13228	-0.416000	0.09315	-0.207000	0.08511	0.000000	0.06391	0.000000	0.08366	0.204000	0.22012	0.162:0.2386:0.3537:0.2456	0.765	0.00949	124	0.95048	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1367.33	68	chrX	101492694	.	G	A	1367.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.046;DP=1355;ExcessHet=0;FS=2.412;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.1;ReadPosRankSum=-0.948;SOR=0.831	GT:AD:DP:GQ:PL	0/1:58,55:113:99:1381,0,1478	18	0	1	0
chrX	103586288	103586288	G	T	exonic	TCEAL4	.	nonsynonymous SNV	TCEAL4:NM_001300901:exon4:c.G389T:p.R130L	.	438	1083	1	0	0	1	0.000461467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	.	.	0.00582781	0.0019	0	0	0.0426	0	0	0.0087	0.0007	0.0004657	72	154602	rs187636747	0.0006	0.0006	0.0006	0.0006	0.0190	0.0006	0.0005	0.0176	0.0171	0	0	0	0.0190	0	0	2.807e-05	0.0014	0.0004	0.0010	0.0010	0.0010	0.0009	0.0277	0.0008	0.0008	0.0233	0.0216	3.213e-05	0	0.0003	0	0.0277	0	0	3.754e-05	0.0026	0.0007	0.106	0.29688	T	0.231	0.25061	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	1.76	0.25996	T	-0.55	0.16799	N	0.03	0.00717	-1.0908	0.05400	T	0.038	0.16246	T	6	0.003612101	0.00066	T	.	.	.	0.029	0.06676	.	.	0.0675242888579	0.06100	0.006713640950517561	0.00638	.	.	.	.	.	.	.	.	-0.82687	0.00004	T	-0.940246	0.00294	T	0.017925383692543	0.00518	T	0.363764	0.08432	T	.	.	.	.	.	.	.	.	-3.9	0.22303	T	.	.	0.198	0.42037	B	.	.	0.904126	0.12780	9.299	0.986066461782514	0.43585	0.06202	0.12188	N	AEFDGBCI	.	.	.	.	.	.	.	.	.	0.999999798448405	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.49	1.71	0.23429	0.815000	0.26910	0.727000	0.21057	-0.128000	0.13240	0.724000	0.28861	0.172000	0.23351	0.061000	0.16044	0.2773:0.0:0.7227:0.0	5.304	0.15104	428	0.80967	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	487.33	35	chrX	103586288	.	G	T	487.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.295;DP=504;ExcessHet=0;FS=0;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.72;ReadPosRankSum=-0.24;SOR=0.542	GT:AD:DP:GQ:PL	0/1:13,18:31:99:501,0,343	18	0	1	0
chrX	107794347	107794347	A	G	exonic	NCBP2L	.	nonsynonymous SNV	NCBP2L:NM_001348372:exon2:c.A127G:p.M43V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.00189970518841	.	.	2.467e-05	0	0	0.0003	0	0	0	0	3.84e-05	1	26028	rs760967552	4.382e-06	4.371e-06	7.003e-06	0	3.679e-05	7.3e-07	2.7e-07	.	.	0	2.91e-05	0	3.679e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	0.000006	0.62929	N	0.062472	0.998145	0.22327	N	.	.	.	.	.	.	.	.	.	0.146	0.14763	-0.9128	0.46505	T	0.006	0.02206	T	7	0.10907659	0.20333	T	0.002	0.03351	T	.	.	.	.	0.0846915920261	0.08053	0.15213580619615577	0.15135	0.0305707374998	0.03161	.	.	.	0.058358	0.30821	T	-0.498212	0.00585	T	-0.693744	0.06175	T	0.107779964804649	0.13192	T	0.842116	0.51841	T	0.0733858	0.16395	0.07099343	0.15149	0.0733858	0.16394	0.07099343	0.15149	0.96	0.00137	T	.	.	0.043	0.00032	B	.;.	.;.	-0.639946	0.01466	0.090	0.40524731839358846	0.02865	0.04639	0.10307	N	AEFBI	.	.	.	.	.	.	.	.	.	0.333494144276928	0.19510	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.05	2.15	0.26590	4.485000	0.60009	0.587000	0.19777	-0.870000	0.02561	1.000000	0.71638	0.007000	0.19602	0.001000	0.02609	0.1865:0.1576:0.656:0.0	6.010	0.18794	13	0.98894	RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain;RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2841.33	106	chrX	107794347	.	A	G	2841.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.21;DP=1016;ExcessHet=0;FS=1.107;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.57;ReadPosRankSum=-0.454;SOR=0.795	GT:AD:DP:GQ:PL	0/1:96,99:195:99:2855,0,2493	18	0	1	0
chrX	118628226	118628226	C	A	exonic	DOCK11	.	nonsynonymous SNV	DOCK11:NM_144658:exon34:c.C3728A:p.P1243Q	.	.	.	.	.	.	.	.	.	.	.	3237767	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.052	0.206642429886	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1040916295	3.657e-06	4.553e-06	4.085e-06	2.783e-06	0.0005	8.6e-07	5.8e-07	8.589e-05	3.574e-05	0	0	0	0	0	0.0005	2.385e-06	0	0	8.95e-06	8.712e-06	1.285e-05	0	1.882e-05	0	0	.	.	0	0	0	0	0	0	0	1.882e-05	0	0	0.051	0.39575	T	0.03	0.54159	D	0.017	0.17573	B	0.053	0.25678	B	0.551355	0.11432	N	0.820298	0.836284	0.28692	N	0	0.06538	N	2.28	0.17271	T	-0.03	0.07444	N	0.322	0.36254	-1.0497	0.14481	T	0.026	0.10998	T	10	0.17654565	0.32644	T	0.206642	0.87050	D	0.052	0.14661	0.243	0.17677	0.138757226776	0.13463	0.4968939569478353	0.49610	0.340037095638	0.35948	0.370239526033	0.20867	T	0.007172	0.08911	T	-0.304394	0.08252	T	-0.675017	0.07291	T	0.384547908629898	0.28357	T	0.885311	0.61048	D	0.09871695	0.23288	0.17905541	0.40615	0.09871695	0.23288	0.17905541	0.40614	-3.42	0.15327	T	.	.	0.100	0.18456	B	.;.;.	.;.;.	3.131538	0.42320	21.5	0.96983826656238459	0.31871	0.96884	0.71464	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.924902800968291	0.26796	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.48	5.48	0.80675	2.728000	0.46990	5.877000	0.50600	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.9132:0.0:0.0868	11.053	0.47119	505	0.75648	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	973.33	33	chrX	118628226	.	C	A	973.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.461;DP=599;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.7;ReadPosRankSum=0.058;SOR=0.741	GT:AD:DP:GQ:PL	0/1:24,38:62:99:987,0,626	18	0	1	0
chrX	130384742	130384742	G	C	exonic	GPR119	.	nonsynonymous SNV	GPR119:NM_178471:exon1:c.C706G:p.L236V	.	435	1049	18	20	0	58	0.0269017	.	.	.	706099	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.102	0.252115600102	0.0026	0.0018543	0.0022	0.0004	0.0003	0	0.0018	0.0033	0.0063	0.0022	0.002348	363	154602	rs41310452	0.0032	0.0032	0.0032	0.0034	0.0196	0.0032	0.0031	0.0162	0.0149	0.0006	0.0008	0.0007	0	0.0015	0.0196	0.0036	0.0034	0.0033	0.0023	0.0023	0.0024	0.0021	0.0036	0.0021	0.0020	0.0032	0.0030	0.0006	0.0073	0.0015	0.0008	0	0.0008	0.0046	0.0036	0.0039	0.0030	0.396	0.10623	T	0.435	0.13518	T	0.905	0.49920	P	0.493	0.47443	P	0.007079	0.31620	N	0.270585	0.709009	0.33499	D	1.075	0.27130	L	1.19	0.37578	T	-0.97	0.25770	N	0.052	0.02366	-0.9257	0.44758	T	0.077	0.30859	T	10	0.012250364	0.00264	T	0.252116	0.89159	D	0.102	0.29158	.	.	0.72341110774	0.72096	0.49764782468746016	0.49685	0.984425732197	0.73851	0.496496796608	0.38339	T	0.025164	0.18872	T	-0.537071	0.00349	T	-0.546347	0.17678	T	0.0176764243814382	0.00499	T	0.683432	0.29175	T	0.1734513	0.38093	0.112142295	0.27056	0.1734513	0.38093	0.112142295	0.27055	-3.675	0.18950	T	.	.	0.070	0.03661	B	.	.	2.426414	0.31206	18.67	0.99423980889278363	0.63935	0.65208	0.32661	D	AEFBI	.	.	.	.	.	.	.	.	.	0.00494949168087758	0.10771	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.15	4.29	0.50359	1.355000	0.33671	8.526000	0.77440	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.995000	0.73285	0.0958:0.1667:0.5623:0.1751	3.283	0.06515	361	0.84870	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.015895	0.013605	0.014842	0.011858	0.071429	0.023529	0.022222	0.010526	0.02632	1427.33	34	chrX	130384742	.	G	C	1427.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.176;DP=759;ExcessHet=0;FS=5.575;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.8;ReadPosRankSum=0.21;SOR=0.936	GT:AD:DP:GQ:PL	0/1:60,61:121:99:1441,0,1531	18	0	1	0
chrX	135580144	135580144	G	C	exonic	INTS6L	.	nonsynonymous SNV	INTS6L:NM_001351603:exon15:c.G2365C:p.V789L,INTS6L:NM_001351604:exon15:c.G2233C:p.V745L,INTS6L:NM_001351605:exon15:c.G2233C:p.V745L,INTS6L:NM_001351606:exon15:c.G1639C:p.V547L,INTS6L:NM_182540:exon15:c.G2365C:p.V789L,INTS6L:NM_001351601:exon16:c.G2476C:p.V826L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.320721839563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	9.106e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.33254	T	0.144	0.33109	T	0.054	0.22658	B	0.016	0.17743	B	0.000000	0.84330	D	0.000000	0.998439	0.44913	D	.	.	.	1.12	0.38718	T	-1.47	0.35991	N	0.585	0.60579	-0.8446	0.52338	T	0.185	0.53376	T	10	0.3336386	0.50551	T	0.320722	0.91466	D	0.116	0.32463	0.358	0.36060	0.707954595072	0.70541	0.7275652152813423	0.72700	1.18866698664	0.80215	0.648726463318	0.59806	T	0.054	0.29627	T	0.00945918	0.52950	T	-0.224189	0.52332	T	0.882806301116943	0.53294	D	0.539346	0.18229	T	0.6511502	0.75426	0.50532985	0.71408	0.6511502	0.75427	0.50532985	0.71409	-8.677	0.65596	D	.	.	0.978	0.90664	P	.;.	.;.	3.376911	0.46690	22.3	0.98498159316290479	0.42180	0.97707	0.76556	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.999999042486774	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.88	4.88	0.63131	4.677000	0.61324	5.234000	0.48040	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	16.741	0.85319	91	0.96221	INTS6/SAGE1/DDX26B/CT45, C-terminal;INTS6/SAGE1/DDX26B/CT45, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	1139.66	111	chrX	135580144	.	G	C	1139.66	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-0.835;DP=1343;ExcessHet=31.086;FS=227.944;InbreedingCoeff=-0.8004;MLEAC=17;MLEAF=0.447;MQ=60;MQRankSum=0;QD=1.05;ReadPosRankSum=0.257;SOR=12.389	GT:AD:DP:GQ:PL	0/1:57,29:95:48:48,0,776	2	0	17	0
chrX	154928659	154928659	G	T	exonic	F8	.	nonsynonymous SNV	F8:NM_000132:exon14:c.C5131A:p.Q1711K	Hemophilia A, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.417	0.580312381874	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.184e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.40573	D	0.015	0.61642	D	0.89	0.48942	P	0.402	0.44547	B	0.087023	0.20555	N	0.525914	0.526319	0.31527	N	2.11	0.58565	M	-5.19	0.98838	D	-2.11	0.48020	N	0.254	0.28732	0.894	0.95585	D	0.891	0.96375	D	10	0.4315882	0.57526	T	0.580312	0.96237	D	0.417	0.72705	0.325	0.30711	0.909904499923	0.90900	0.599139701443422	0.59844	0.0576120744431	0.06381	0.435637295246	0.29980	T	0.466501	0.80122	T	0.0217563	0.54619	T	-0.206525	0.54027	T	0.476094104983387	0.31754	T	0.750425	0.37198	T	0.4894178	0.66468	0.28348273	0.54341	0.4894178	0.66469	0.28348273	0.54340	-4.423	0.29867	T	0.3898220600648977	0.48314	0.111	0.21466	B	.	.	2.782803	0.36562	20.3	0.99445289241789481	0.64971	0.62169	0.31701	D	AEFBI	.	.	.	.	.	.	.	.	.	1.41832043686386E-4	0.05573	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.01	3.05	0.34272	1.386000	0.34025	5.577000	0.48958	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.587:0.413	8.686	0.33402	91	0.96221	.	.	.	.	.	.	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	0.000688	0.000000	0.000000	0.000000	0.071429	0.000000	0.000000	0.000000	0.1	530.74	315	chrX	154928659	.	G	T	530.74	.	AC=3;AF=0.1;AN=30;BaseQRankSum=-4.562;DP=2372;ExcessHet=0.3672;FS=183.52;InbreedingCoeff=-0.1523;MLEAC=3;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.72;ReadPosRankSum=4.08;SOR=11.059	GT:AD:DP:GQ:PL	0/1:200,89:289:99:509,0,4028	12	0	3	4